Datasets:
wanglab
/
variant_effect_non_snv

Dataset card Data Studio Files
xet
Community
question
stringlengths
84
268
answer
stringlengths
6
879
reference_sequence
stringlengths
4.1k
4.1k
mutated_sequence
stringlengths
4.1k
4.1k
cleaned_pathogenicity
stringclasses
2 values
__index_level_0__
int64
67
343k
Mutation at chromosome 7, position 5982981, within PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
GAGTACTCAGTAAACTACACAGGAGAGTACTCAGCAAACTACACAGGTTCAGTGGTACATTTCTCCATGTGGGATCTACTTGTTGGGATCTGAGTTTACTTCACTACGTGGTTTAATTTCCCACACGAAAATCCATGACCTCTTCTTCTAACTTTGCTGAAGACAAGACTTTGGTTTTACATGATACTATCACACCTGACCTTTGTGAAGTAGTCAGGGTAAAACATTCCAGTTTGGCCGAGGAGAGAGAAATACCAAATTCTGCAGTGACTATCTTAAAATAATTTTTAAATTTTATTTTATTTTATTTATTAATTTATTTGTGAGACAGAGTCTCACTGTCTCACTCTGTCACCCAGGCTGGAGAGCTGTGCAGTGGCACGATCATGGCAGCCTCAATCTCCTGGGCTCAAACGATCCTCCCACCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCATCAAGTCTGACTAATTTTTTACATTTGTTGTAGAGACAAGGTTTCACCATGATGCCCAGGCTGGTCTCAAACTCCTAAGCTCGAGGGATCTGCCTGCCTCAGCCTCCCAAAGCTCTGGGATTACAGGCGTGTGCCCCTGCATCCAACCTGCAGTGACTATCTGACTTCTGATTACTCTACTGTCAATCAACACTGGCGCACAGGCTGTCTGTCTTTCTGAACACACACATTCCATACACTATGCATACTAATACTCCATACTATCAATTGCCCTCATCAGAAGGATCTTCTGGCTAACCAGTGATCAACATTTTTAATAGCGAAAAATACCTGATACTTAGAGAACATGTTAACCACGTGAACTGGGGCAGGTTACTCAACCTCTCTGCATGTGCCTCAGTTTTATCGCTTGTGGAATGGTGATGGTAACAGTAACAACCCCATAGGTTTTTGAGGATTAAAGGAACTAATACACATACATTATTTCAACAGTGCCTGGCAGATTCTAGGCACTGAATAAATGGTAACTATCACTATTATGTAAAAAGTATAAAAATCTGCTATATGAATACTTATGGAAAAATACATATATACATATAGACACACATATAAACTATTAGGTCTCTTTTTTTTTTTGAGATAGAATCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCGATTCTCCTACCTCAGTCTCCTGAGTAGCTGGAATTACAGGCGTGCACTGCCATGCCCAGCTAATTTTTTGTATTTTTATTTTTTATCATTATTATTATTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCGATGGCACGAACTCGGCTCGCTGCAAACTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTCTCACCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTGAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCCGGGATTATAGGCGTGAGCCACCGTGCCTGGCCTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCACGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGGCACCGCGCCTGGCCAACTAGATATTTTTTATTTTTTACACCCCTCCTTCCTAGATCTCTTCTTTTTTAAAGTAGATACAAGGTCTTGCTGTGTTGTCCGGGCTGGTCTCAAACTCCTGGCCTCTTGTGATCCTCCTGCCTTGGCCTCTATTAGATCTTCAATTTGAGGGGGAGTCTGGGAATGAACACTAAACACACTCACGCTATGAGCCTCTGCCCCTGGAGCACGGTGTGCTGCTGCAGCATCTCGAAGTTATACTTCTCGTCCGTGGCATGCTGGTCCACTATGAAGATATCCTCATTCAGTTTGGTTATTATAAATCCCAGGTTAAACTGACCAATGATTTCCATTTCTGCAAACATCGTTTTACTGCAGGTAGAAAATGTTAATTATCAGACATTTTACAAGATTATTTTTCTGATTATGTTATAGAACACTGTAATAAAAAAAAAGTCAAACAATACAAAAACAAAATAAAGTCCCTAGCCATCCCGCTTTCTTTTTTTTTGAAACAGAGTCTCGTTCTGTCACCCAGGCTACAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCGAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTCCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTTCGGCTTAACCATCCCACTTTCTAAAGATAACATTAATTATTCATTCATCCAACTCTCCGGAGAAGACATCAGTTGCTACTATTAACGATTTAAATGGAATATATCCTTCTAGACCCTTGTCTCCATATATAATTTTTTTTAATTTTAAAAAACAAAAATGGAATCTTAATTCTCCATTCTGTCATCACTTAATGCATCTGAAACAAGTTTTCAGACCTGTACACATAGATCTACTTCATTATTTTTTCTTTTTTTTTTTCTTTTAAGACGGAGTCTCACTCTCTGTTGCCCAGGCTGGACTGCAGTGGCGTGACCGTGGCTCACTGCAACCTGCGCCTCCCAGGTTCGAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCGCCAAGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCTAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCTACTTCATTCTTTTTAATGGCCACATAGGAATTCATTGCATGGATGTACCATAATTTGTCTGACAAATCCCCTACTAAAGGACATTTCAGTTGTTTCCAATTTCAATAGCGCACTCAAAGCTGCAACAAATACTTCTGTGCATAAACCTACTCATCTGTGGGTGCATTTCCGTGAGACAGACGCTAGAGGGAGAACTACATATGTACTTCTTGACGGGAAATCTGTGAAAAGTCACACTCCCACCAATGGTGTGTAAGAGCACCTTTCTGCCAATGCTGGATATCAATCCTTCTCATCTTTGCCAGGCCCACCACTGGGTCCTTTGCGGGTGGCTTCAACATCTAATGTCATTAAATACTAACTTAGTCAATCTGGACAAAAGACAGACACCACCGCTAACCTTCACACGAGAAATTGACACTGTCATTCTCAGTCCCACACAATTAAATCCGGTGAAAATGGATTTTCCGCAGTATCAGCGCGGTGATGACAAGAAATGGCTCTGTTAAAGCAGCCATGGACGTTTTCTGGTTCTCACCTGGTGGCCTGAGCTGAGGATGAAAGCAGCTGTAATGTAATCCCAGCACTTTGGGAAGACAAGGTGGGCAGATCATTTGAGGTTGGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTGGACACCTGTACTCCCAGCTACTTGGGAAACGAAGGCAGAAGAATCGTTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGTGCCAGTGCACTCCAGCCTGGGCGAAAGAGTGAGACTCTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTT
GAGTACTCAGTAAACTACACAGGAGAGTACTCAGCAAACTACACAGGTTCAGTGGTACATTTCTCCATGTGGGATCTACTTGTTGGGATCTGAGTTTACTTCACTACGTGGTTTAATTTCCCACACGAAAATCCATGACCTCTTCTTCTAACTTTGCTGAAGACAAGACTTTGGTTTTACATGATACTATCACACCTGACCTTTGTGAAGTAGTCAGGGTAAAACATTCCAGTTTGGCCGAGGAGAGAGAAATACCAAATTCTGCAGTGACTATCTTAAAATAATTTTTAAATTTTATTTTATTTTATTTATTAATTTATTTGTGAGACAGAGTCTCACTGTCTCACTCTGTCACCCAGGCTGGAGAGCTGTGCAGTGGCACGATCATGGCAGCCTCAATCTCCTGGGCTCAAACGATCCTCCCACCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCATCAAGTCTGACTAATTTTTTACATTTGTTGTAGAGACAAGGTTTCACCATGATGCCCAGGCTGGTCTCAAACTCCTAAGCTCGAGGGATCTGCCTGCCTCAGCCTCCCAAAGCTCTGGGATTACAGGCGTGTGCCCCTGCATCCAACCTGCAGTGACTATCTGACTTCTGATTACTCTACTGTCAATCAACACTGGCGCACAGGCTGTCTGTCTTTCTGAACACACACATTCCATACACTATGCATACTAATACTCCATACTATCAATTGCCCTCATCAGAAGGATCTTCTGGCTAACCAGTGATCAACATTTTTAATAGCGAAAAATACCTGATACTTAGAGAACATGTTAACCACGTGAACTGGGGCAGGTTACTCAACCTCTCTGCATGTGCCTCAGTTTTATCGCTTGTGGAATGGTGATGGTAACAGTAACAACCCCATAGGTTTTTGAGGATTAAAGGAACTAATACACATACATTATTTCAACAGTGCCTGGCAGATTCTAGGCACTGAATAAATGGTAACTATCACTATTATGTAAAAAGTATAAAAATCTGCTATATGAATACTTATGGAAAAATACATATATACATATAGACACACATATAAACTATTAGGTCTCTTTTTTTTTTTGAGATAGAATCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCGATTCTCCTACCTCAGTCTCCTGAGTAGCTGGAATTACAGGCGTGCACTGCCATGCCCAGCTAATTTTTTGTATTTTTATTTTTTATCATTATTATTATTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCGATGGCACGAACTCGGCTCGCTGCAAACTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTCTCACCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTGAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCCGGGATTATAGGCGTGAGCCACCGTGCCTGGCCTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCACGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGGCACCGCGCCTGGCCAACTAGATATTTTTTATTTTTTACACCCCTCCTTCCTAGATCTCTTCTTTTTTAAAGTAGATACAAGGTCTTGCTGTGTTGTCCGGGCTGGTCTCAAACTCCTGGCCTCTTGTGATCCTCCTGCCTTGGCCTCTATTAGATCTTCAATTTGAGGGGGAGTCTGGGAATGAACACTAAACACACTCACGCTATGAGCCTCTGCCCCTGGAGCACGGTGTGCTGCTGCAGCATCTCGAAGTTATACTTCTCGTCCGTGGCATGCTGGTCCACTATGAAGATATCCTCATTCAGTTTGGTTATTATAAATCCCAGGTTAAACTGACCAATGATTTCCATTTCTGCAAAATCGTTTTACTGCAGGTAGAAAATGTTAATTATCAGACATTTTACAAGATTATTTTTCTGATTATGTTATAGAACACTGTAATAAAAAAAAAGTCAAACAATACAAAAACAAAATAAAGTCCCTAGCCATCCCGCTTTCTTTTTTTTTGAAACAGAGTCTCGTTCTGTCACCCAGGCTACAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCGAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTCCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTTCGGCTTAACCATCCCACTTTCTAAAGATAACATTAATTATTCATTCATCCAACTCTCCGGAGAAGACATCAGTTGCTACTATTAACGATTTAAATGGAATATATCCTTCTAGACCCTTGTCTCCATATATAATTTTTTTTAATTTTAAAAAACAAAAATGGAATCTTAATTCTCCATTCTGTCATCACTTAATGCATCTGAAACAAGTTTTCAGACCTGTACACATAGATCTACTTCATTATTTTTTCTTTTTTTTTTTCTTTTAAGACGGAGTCTCACTCTCTGTTGCCCAGGCTGGACTGCAGTGGCGTGACCGTGGCTCACTGCAACCTGCGCCTCCCAGGTTCGAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCGCCAAGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCTAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCTACTTCATTCTTTTTAATGGCCACATAGGAATTCATTGCATGGATGTACCATAATTTGTCTGACAAATCCCCTACTAAAGGACATTTCAGTTGTTTCCAATTTCAATAGCGCACTCAAAGCTGCAACAAATACTTCTGTGCATAAACCTACTCATCTGTGGGTGCATTTCCGTGAGACAGACGCTAGAGGGAGAACTACATATGTACTTCTTGACGGGAAATCTGTGAAAAGTCACACTCCCACCAATGGTGTGTAAGAGCACCTTTCTGCCAATGCTGGATATCAATCCTTCTCATCTTTGCCAGGCCCACCACTGGGTCCTTTGCGGGTGGCTTCAACATCTAATGTCATTAAATACTAACTTAGTCAATCTGGACAAAAGACAGACACCACCGCTAACCTTCACACGAGAAATTGACACTGTCATTCTCAGTCCCACACAATTAAATCCGGTGAAAATGGATTTTCCGCAGTATCAGCGCGGTGATGACAAGAAATGGCTCTGTTAAAGCAGCCATGGACGTTTTCTGGTTCTCACCTGGTGGCCTGAGCTGAGGATGAAAGCAGCTGTAATGTAATCCCAGCACTTTGGGAAGACAAGGTGGGCAGATCATTTGAGGTTGGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTGGACACCTGTACTCCCAGCTACTTGGGAAACGAAGGCAGAAGAATCGTTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGTGCCAGTGCACTCCAGCCTGGGCGAAAGAGTGAGACTCTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTN
pathogenic
115,799
Variant chromosome 7, position 5982992, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? Disease(s)?
pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
AAACTACACAGGAGAGTACTCAGCAAACTACACAGGTTCAGTGGTACATTTCTCCATGTGGGATCTACTTGTTGGGATCTGAGTTTACTTCACTACGTGGTTTAATTTCCCACACGAAAATCCATGACCTCTTCTTCTAACTTTGCTGAAGACAAGACTTTGGTTTTACATGATACTATCACACCTGACCTTTGTGAAGTAGTCAGGGTAAAACATTCCAGTTTGGCCGAGGAGAGAGAAATACCAAATTCTGCAGTGACTATCTTAAAATAATTTTTAAATTTTATTTTATTTTATTTATTAATTTATTTGTGAGACAGAGTCTCACTGTCTCACTCTGTCACCCAGGCTGGAGAGCTGTGCAGTGGCACGATCATGGCAGCCTCAATCTCCTGGGCTCAAACGATCCTCCCACCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCATCAAGTCTGACTAATTTTTTACATTTGTTGTAGAGACAAGGTTTCACCATGATGCCCAGGCTGGTCTCAAACTCCTAAGCTCGAGGGATCTGCCTGCCTCAGCCTCCCAAAGCTCTGGGATTACAGGCGTGTGCCCCTGCATCCAACCTGCAGTGACTATCTGACTTCTGATTACTCTACTGTCAATCAACACTGGCGCACAGGCTGTCTGTCTTTCTGAACACACACATTCCATACACTATGCATACTAATACTCCATACTATCAATTGCCCTCATCAGAAGGATCTTCTGGCTAACCAGTGATCAACATTTTTAATAGCGAAAAATACCTGATACTTAGAGAACATGTTAACCACGTGAACTGGGGCAGGTTACTCAACCTCTCTGCATGTGCCTCAGTTTTATCGCTTGTGGAATGGTGATGGTAACAGTAACAACCCCATAGGTTTTTGAGGATTAAAGGAACTAATACACATACATTATTTCAACAGTGCCTGGCAGATTCTAGGCACTGAATAAATGGTAACTATCACTATTATGTAAAAAGTATAAAAATCTGCTATATGAATACTTATGGAAAAATACATATATACATATAGACACACATATAAACTATTAGGTCTCTTTTTTTTTTTGAGATAGAATCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCGATTCTCCTACCTCAGTCTCCTGAGTAGCTGGAATTACAGGCGTGCACTGCCATGCCCAGCTAATTTTTTGTATTTTTATTTTTTATCATTATTATTATTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCGATGGCACGAACTCGGCTCGCTGCAAACTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTCTCACCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTGAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCCGGGATTATAGGCGTGAGCCACCGTGCCTGGCCTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCACGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGGCACCGCGCCTGGCCAACTAGATATTTTTTATTTTTTACACCCCTCCTTCCTAGATCTCTTCTTTTTTAAAGTAGATACAAGGTCTTGCTGTGTTGTCCGGGCTGGTCTCAAACTCCTGGCCTCTTGTGATCCTCCTGCCTTGGCCTCTATTAGATCTTCAATTTGAGGGGGAGTCTGGGAATGAACACTAAACACACTCACGCTATGAGCCTCTGCCCCTGGAGCACGGTGTGCTGCTGCAGCATCTCGAAGTTATACTTCTCGTCCGTGGCATGCTGGTCCACTATGAAGATATCCTCATTCAGTTTGGTTATTATAAATCCCAGGTTAAACTGACCAATGATTTCCATTTCTGCAAACATCGTTTTACTGCAGGTAGAAAATGTTAATTATCAGACATTTTACAAGATTATTTTTCTGATTATGTTATAGAACACTGTAATAAAAAAAAAGTCAAACAATACAAAAACAAAATAAAGTCCCTAGCCATCCCGCTTTCTTTTTTTTTGAAACAGAGTCTCGTTCTGTCACCCAGGCTACAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCGAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTCCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTTCGGCTTAACCATCCCACTTTCTAAAGATAACATTAATTATTCATTCATCCAACTCTCCGGAGAAGACATCAGTTGCTACTATTAACGATTTAAATGGAATATATCCTTCTAGACCCTTGTCTCCATATATAATTTTTTTTAATTTTAAAAAACAAAAATGGAATCTTAATTCTCCATTCTGTCATCACTTAATGCATCTGAAACAAGTTTTCAGACCTGTACACATAGATCTACTTCATTATTTTTTCTTTTTTTTTTTCTTTTAAGACGGAGTCTCACTCTCTGTTGCCCAGGCTGGACTGCAGTGGCGTGACCGTGGCTCACTGCAACCTGCGCCTCCCAGGTTCGAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCGCCAAGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCTAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCTACTTCATTCTTTTTAATGGCCACATAGGAATTCATTGCATGGATGTACCATAATTTGTCTGACAAATCCCCTACTAAAGGACATTTCAGTTGTTTCCAATTTCAATAGCGCACTCAAAGCTGCAACAAATACTTCTGTGCATAAACCTACTCATCTGTGGGTGCATTTCCGTGAGACAGACGCTAGAGGGAGAACTACATATGTACTTCTTGACGGGAAATCTGTGAAAAGTCACACTCCCACCAATGGTGTGTAAGAGCACCTTTCTGCCAATGCTGGATATCAATCCTTCTCATCTTTGCCAGGCCCACCACTGGGTCCTTTGCGGGTGGCTTCAACATCTAATGTCATTAAATACTAACTTAGTCAATCTGGACAAAAGACAGACACCACCGCTAACCTTCACACGAGAAATTGACACTGTCATTCTCAGTCCCACACAATTAAATCCGGTGAAAATGGATTTTCCGCAGTATCAGCGCGGTGATGACAAGAAATGGCTCTGTTAAAGCAGCCATGGACGTTTTCTGGTTCTCACCTGGTGGCCTGAGCTGAGGATGAAAGCAGCTGTAATGTAATCCCAGCACTTTGGGAAGACAAGGTGGGCAGATCATTTGAGGTTGGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTGGACACCTGTACTCCCAGCTACTTGGGAAACGAAGGCAGAAGAATCGTTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGTGCCAGTGCACTCCAGCCTGGGCGAAAGAGTGAGACTCTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCA
AAACTACACAGGAGAGTACTCAGCAAACTACACAGGTTCAGTGGTACATTTCTCCATGTGGGATCTACTTGTTGGGATCTGAGTTTACTTCACTACGTGGTTTAATTTCCCACACGAAAATCCATGACCTCTTCTTCTAACTTTGCTGAAGACAAGACTTTGGTTTTACATGATACTATCACACCTGACCTTTGTGAAGTAGTCAGGGTAAAACATTCCAGTTTGGCCGAGGAGAGAGAAATACCAAATTCTGCAGTGACTATCTTAAAATAATTTTTAAATTTTATTTTATTTTATTTATTAATTTATTTGTGAGACAGAGTCTCACTGTCTCACTCTGTCACCCAGGCTGGAGAGCTGTGCAGTGGCACGATCATGGCAGCCTCAATCTCCTGGGCTCAAACGATCCTCCCACCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCATCAAGTCTGACTAATTTTTTACATTTGTTGTAGAGACAAGGTTTCACCATGATGCCCAGGCTGGTCTCAAACTCCTAAGCTCGAGGGATCTGCCTGCCTCAGCCTCCCAAAGCTCTGGGATTACAGGCGTGTGCCCCTGCATCCAACCTGCAGTGACTATCTGACTTCTGATTACTCTACTGTCAATCAACACTGGCGCACAGGCTGTCTGTCTTTCTGAACACACACATTCCATACACTATGCATACTAATACTCCATACTATCAATTGCCCTCATCAGAAGGATCTTCTGGCTAACCAGTGATCAACATTTTTAATAGCGAAAAATACCTGATACTTAGAGAACATGTTAACCACGTGAACTGGGGCAGGTTACTCAACCTCTCTGCATGTGCCTCAGTTTTATCGCTTGTGGAATGGTGATGGTAACAGTAACAACCCCATAGGTTTTTGAGGATTAAAGGAACTAATACACATACATTATTTCAACAGTGCCTGGCAGATTCTAGGCACTGAATAAATGGTAACTATCACTATTATGTAAAAAGTATAAAAATCTGCTATATGAATACTTATGGAAAAATACATATATACATATAGACACACATATAAACTATTAGGTCTCTTTTTTTTTTTGAGATAGAATCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCGATTCTCCTACCTCAGTCTCCTGAGTAGCTGGAATTACAGGCGTGCACTGCCATGCCCAGCTAATTTTTTGTATTTTTATTTTTTATCATTATTATTATTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCGATGGCACGAACTCGGCTCGCTGCAAACTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTCTCACCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTGAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCCGGGATTATAGGCGTGAGCCACCGTGCCTGGCCTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCACGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGGCACCGCGCCTGGCCAACTAGATATTTTTTATTTTTTACACCCCTCCTTCCTAGATCTCTTCTTTTTTAAAGTAGATACAAGGTCTTGCTGTGTTGTCCGGGCTGGTCTCAAACTCCTGGCCTCTTGTGATCCTCCTGCCTTGGCCTCTATTAGATCTTCAATTTGAGGGGGAGTCTGGGAATGAACACTAAACACACTCACGCTATGAGCCTCTGCCCCTGGAGCACGGTGTGCTGCTGCAGCATCTCGAAGTTATACTTCTCGTCCGTGGCATGCTGGTCCACTATGAAGATATCCTCATTCAGTTTGGTTATTATAAATCCCAGGTTAAACTGACCAATGATTTCCATTTCTGCAAACATCGTTTTAGTGTAGGTAGAAAATGTTAATTATCAGACATTTTACAAGATTATTTTTCTGATTATGTTATAGAACACTGTAATAAAAAAAAAGTCAAACAATACAAAAACAAAATAAAGTCCCTAGCCATCCCGCTTTCTTTTTTTTTGAAACAGAGTCTCGTTCTGTCACCCAGGCTACAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCGAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTCCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTTCGGCTTAACCATCCCACTTTCTAAAGATAACATTAATTATTCATTCATCCAACTCTCCGGAGAAGACATCAGTTGCTACTATTAACGATTTAAATGGAATATATCCTTCTAGACCCTTGTCTCCATATATAATTTTTTTTAATTTTAAAAAACAAAAATGGAATCTTAATTCTCCATTCTGTCATCACTTAATGCATCTGAAACAAGTTTTCAGACCTGTACACATAGATCTACTTCATTATTTTTTCTTTTTTTTTTTCTTTTAAGACGGAGTCTCACTCTCTGTTGCCCAGGCTGGACTGCAGTGGCGTGACCGTGGCTCACTGCAACCTGCGCCTCCCAGGTTCGAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCGCCAAGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCTAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCTACTTCATTCTTTTTAATGGCCACATAGGAATTCATTGCATGGATGTACCATAATTTGTCTGACAAATCCCCTACTAAAGGACATTTCAGTTGTTTCCAATTTCAATAGCGCACTCAAAGCTGCAACAAATACTTCTGTGCATAAACCTACTCATCTGTGGGTGCATTTCCGTGAGACAGACGCTAGAGGGAGAACTACATATGTACTTCTTGACGGGAAATCTGTGAAAAGTCACACTCCCACCAATGGTGTGTAAGAGCACCTTTCTGCCAATGCTGGATATCAATCCTTCTCATCTTTGCCAGGCCCACCACTGGGTCCTTTGCGGGTGGCTTCAACATCTAATGTCATTAAATACTAACTTAGTCAATCTGGACAAAAGACAGACACCACCGCTAACCTTCACACGAGAAATTGACACTGTCATTCTCAGTCCCACACAATTAAATCCGGTGAAAATGGATTTTCCGCAGTATCAGCGCGGTGATGACAAGAAATGGCTCTGTTAAAGCAGCCATGGACGTTTTCTGGTTCTCACCTGGTGGCCTGAGCTGAGGATGAAAGCAGCTGTAATGTAATCCCAGCACTTTGGGAAGACAAGGTGGGCAGATCATTTGAGGTTGGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTGGACACCTGTACTCCCAGCTACTTGGGAAACGAAGGCAGAAGAATCGTTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGTGCCAGTGCACTCCAGCCTGGGCGAAAGAGTGAGACTCTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCA
pathogenic
115,805
Chromosome 7, position 5983001, gene PMS2 (PMS1 homolog 2, mismatch repair system component): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
benign
AGGAGAGTACTCAGCAAACTACACAGGTTCAGTGGTACATTTCTCCATGTGGGATCTACTTGTTGGGATCTGAGTTTACTTCACTACGTGGTTTAATTTCCCACACGAAAATCCATGACCTCTTCTTCTAACTTTGCTGAAGACAAGACTTTGGTTTTACATGATACTATCACACCTGACCTTTGTGAAGTAGTCAGGGTAAAACATTCCAGTTTGGCCGAGGAGAGAGAAATACCAAATTCTGCAGTGACTATCTTAAAATAATTTTTAAATTTTATTTTATTTTATTTATTAATTTATTTGTGAGACAGAGTCTCACTGTCTCACTCTGTCACCCAGGCTGGAGAGCTGTGCAGTGGCACGATCATGGCAGCCTCAATCTCCTGGGCTCAAACGATCCTCCCACCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCATCAAGTCTGACTAATTTTTTACATTTGTTGTAGAGACAAGGTTTCACCATGATGCCCAGGCTGGTCTCAAACTCCTAAGCTCGAGGGATCTGCCTGCCTCAGCCTCCCAAAGCTCTGGGATTACAGGCGTGTGCCCCTGCATCCAACCTGCAGTGACTATCTGACTTCTGATTACTCTACTGTCAATCAACACTGGCGCACAGGCTGTCTGTCTTTCTGAACACACACATTCCATACACTATGCATACTAATACTCCATACTATCAATTGCCCTCATCAGAAGGATCTTCTGGCTAACCAGTGATCAACATTTTTAATAGCGAAAAATACCTGATACTTAGAGAACATGTTAACCACGTGAACTGGGGCAGGTTACTCAACCTCTCTGCATGTGCCTCAGTTTTATCGCTTGTGGAATGGTGATGGTAACAGTAACAACCCCATAGGTTTTTGAGGATTAAAGGAACTAATACACATACATTATTTCAACAGTGCCTGGCAGATTCTAGGCACTGAATAAATGGTAACTATCACTATTATGTAAAAAGTATAAAAATCTGCTATATGAATACTTATGGAAAAATACATATATACATATAGACACACATATAAACTATTAGGTCTCTTTTTTTTTTTGAGATAGAATCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCGATTCTCCTACCTCAGTCTCCTGAGTAGCTGGAATTACAGGCGTGCACTGCCATGCCCAGCTAATTTTTTGTATTTTTATTTTTTATCATTATTATTATTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCGATGGCACGAACTCGGCTCGCTGCAAACTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTCTCACCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTGAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCCGGGATTATAGGCGTGAGCCACCGTGCCTGGCCTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCACGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGGCACCGCGCCTGGCCAACTAGATATTTTTTATTTTTTACACCCCTCCTTCCTAGATCTCTTCTTTTTTAAAGTAGATACAAGGTCTTGCTGTGTTGTCCGGGCTGGTCTCAAACTCCTGGCCTCTTGTGATCCTCCTGCCTTGGCCTCTATTAGATCTTCAATTTGAGGGGGAGTCTGGGAATGAACACTAAACACACTCACGCTATGAGCCTCTGCCCCTGGAGCACGGTGTGCTGCTGCAGCATCTCGAAGTTATACTTCTCGTCCGTGGCATGCTGGTCCACTATGAAGATATCCTCATTCAGTTTGGTTATTATAAATCCCAGGTTAAACTGACCAATGATTTCCATTTCTGCAAACATCGTTTTACTGCAGGTAGAAAATGTTAATTATCAGACATTTTACAAGATTATTTTTCTGATTATGTTATAGAACACTGTAATAAAAAAAAAGTCAAACAATACAAAAACAAAATAAAGTCCCTAGCCATCCCGCTTTCTTTTTTTTTGAAACAGAGTCTCGTTCTGTCACCCAGGCTACAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCGAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTCCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTTCGGCTTAACCATCCCACTTTCTAAAGATAACATTAATTATTCATTCATCCAACTCTCCGGAGAAGACATCAGTTGCTACTATTAACGATTTAAATGGAATATATCCTTCTAGACCCTTGTCTCCATATATAATTTTTTTTAATTTTAAAAAACAAAAATGGAATCTTAATTCTCCATTCTGTCATCACTTAATGCATCTGAAACAAGTTTTCAGACCTGTACACATAGATCTACTTCATTATTTTTTCTTTTTTTTTTTCTTTTAAGACGGAGTCTCACTCTCTGTTGCCCAGGCTGGACTGCAGTGGCGTGACCGTGGCTCACTGCAACCTGCGCCTCCCAGGTTCGAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCGCCAAGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCTAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCTACTTCATTCTTTTTAATGGCCACATAGGAATTCATTGCATGGATGTACCATAATTTGTCTGACAAATCCCCTACTAAAGGACATTTCAGTTGTTTCCAATTTCAATAGCGCACTCAAAGCTGCAACAAATACTTCTGTGCATAAACCTACTCATCTGTGGGTGCATTTCCGTGAGACAGACGCTAGAGGGAGAACTACATATGTACTTCTTGACGGGAAATCTGTGAAAAGTCACACTCCCACCAATGGTGTGTAAGAGCACCTTTCTGCCAATGCTGGATATCAATCCTTCTCATCTTTGCCAGGCCCACCACTGGGTCCTTTGCGGGTGGCTTCAACATCTAATGTCATTAAATACTAACTTAGTCAATCTGGACAAAAGACAGACACCACCGCTAACCTTCACACGAGAAATTGACACTGTCATTCTCAGTCCCACACAATTAAATCCGGTGAAAATGGATTTTCCGCAGTATCAGCGCGGTGATGACAAGAAATGGCTCTGTTAAAGCAGCCATGGACGTTTTCTGGTTCTCACCTGGTGGCCTGAGCTGAGGATGAAAGCAGCTGTAATGTAATCCCAGCACTTTGGGAAGACAAGGTGGGCAGATCATTTGAGGTTGGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTGGACACCTGTACTCCCAGCTACTTGGGAAACGAAGGCAGAAGAATCGTTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGTGCCAGTGCACTCCAGCCTGGGCGAAAGAGTGAGACTCTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGAT
AGGAGAGTACTCAGCAAACTACACAGGTTCAGTGGTACATTTCTCCATGTGGGATCTACTTGTTGGGATCTGAGTTTACTTCACTACGTGGTTTAATTTCCCACACGAAAATCCATGACCTCTTCTTCTAACTTTGCTGAAGACAAGACTTTGGTTTTACATGATACTATCACACCTGACCTTTGTGAAGTAGTCAGGGTAAAACATTCCAGTTTGGCCGAGGAGAGAGAAATACCAAATTCTGCAGTGACTATCTTAAAATAATTTTTAAATTTTATTTTATTTTATTTATTAATTTATTTGTGAGACAGAGTCTCACTGTCTCACTCTGTCACCCAGGCTGGAGAGCTGTGCAGTGGCACGATCATGGCAGCCTCAATCTCCTGGGCTCAAACGATCCTCCCACCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCATCAAGTCTGACTAATTTTTTACATTTGTTGTAGAGACAAGGTTTCACCATGATGCCCAGGCTGGTCTCAAACTCCTAAGCTCGAGGGATCTGCCTGCCTCAGCCTCCCAAAGCTCTGGGATTACAGGCGTGTGCCCCTGCATCCAACCTGCAGTGACTATCTGACTTCTGATTACTCTACTGTCAATCAACACTGGCGCACAGGCTGTCTGTCTTTCTGAACACACACATTCCATACACTATGCATACTAATACTCCATACTATCAATTGCCCTCATCAGAAGGATCTTCTGGCTAACCAGTGATCAACATTTTTAATAGCGAAAAATACCTGATACTTAGAGAACATGTTAACCACGTGAACTGGGGCAGGTTACTCAACCTCTCTGCATGTGCCTCAGTTTTATCGCTTGTGGAATGGTGATGGTAACAGTAACAACCCCATAGGTTTTTGAGGATTAAAGGAACTAATACACATACATTATTTCAACAGTGCCTGGCAGATTCTAGGCACTGAATAAATGGTAACTATCACTATTATGTAAAAAGTATAAAAATCTGCTATATGAATACTTATGGAAAAATACATATATACATATAGACACACATATAAACTATTAGGTCTCTTTTTTTTTTTGAGATAGAATCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCGATTCTCCTACCTCAGTCTCCTGAGTAGCTGGAATTACAGGCGTGCACTGCCATGCCCAGCTAATTTTTTGTATTTTTATTTTTTATCATTATTATTATTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCGATGGCACGAACTCGGCTCGCTGCAAACTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTCTCACCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTGAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCCGGGATTATAGGCGTGAGCCACCGTGCCTGGCCTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCACGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGGCACCGCGCCTGGCCAACTAGATATTTTTTATTTTTTACACCCCTCCTTCCTAGATCTCTTCTTTTTTAAAGTAGATACAAGGTCTTGCTGTGTTGTCCGGGCTGGTCTCAAACTCCTGGCCTCTTGTGATCCTCCTGCCTTGGCCTCTATTAGATCTTCAATTTGAGGGGGAGTCTGGGAATGAACACTAAACACACTCACGCTATGAGCCTCTGCCCCTGGAGCACGGTGTGCTGCTGCAGCATCTCGAAGTTATACTTCTCGTCCGTGGCATGCTGGTCCACTATGAAGATATCCTCATTCAGTTTGGTTATTATAAATCCCAGGTTAAACTGACCAATGATTTCCATTTCTGCAAACATCGTTTTACTGCAGGTAGAAAAATGTTAATTATCAGACATTTTACAAGATTATTTTTCTGATTATGTTATAGAACACTGTAATAAAAAAAAAGTCAAACAATACAAAAACAAAATAAAGTCCCTAGCCATCCCGCTTTCTTTTTTTTTGAAACAGAGTCTCGTTCTGTCACCCAGGCTACAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCGAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTCCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTTCGGCTTAACCATCCCACTTTCTAAAGATAACATTAATTATTCATTCATCCAACTCTCCGGAGAAGACATCAGTTGCTACTATTAACGATTTAAATGGAATATATCCTTCTAGACCCTTGTCTCCATATATAATTTTTTTTAATTTTAAAAAACAAAAATGGAATCTTAATTCTCCATTCTGTCATCACTTAATGCATCTGAAACAAGTTTTCAGACCTGTACACATAGATCTACTTCATTATTTTTTCTTTTTTTTTTTCTTTTAAGACGGAGTCTCACTCTCTGTTGCCCAGGCTGGACTGCAGTGGCGTGACCGTGGCTCACTGCAACCTGCGCCTCCCAGGTTCGAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCGCCAAGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCTAGGCTGGTCTTGAACTCCCGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCTACTTCATTCTTTTTAATGGCCACATAGGAATTCATTGCATGGATGTACCATAATTTGTCTGACAAATCCCCTACTAAAGGACATTTCAGTTGTTTCCAATTTCAATAGCGCACTCAAAGCTGCAACAAATACTTCTGTGCATAAACCTACTCATCTGTGGGTGCATTTCCGTGAGACAGACGCTAGAGGGAGAACTACATATGTACTTCTTGACGGGAAATCTGTGAAAAGTCACACTCCCACCAATGGTGTGTAAGAGCACCTTTCTGCCAATGCTGGATATCAATCCTTCTCATCTTTGCCAGGCCCACCACTGGGTCCTTTGCGGGTGGCTTCAACATCTAATGTCATTAAATACTAACTTAGTCAATCTGGACAAAAGACAGACACCACCGCTAACCTTCACACGAGAAATTGACACTGTCATTCTCAGTCCCACACAATTAAATCCGGTGAAAATGGATTTTCCGCAGTATCAGCGCGGTGATGACAAGAAATGGCTCTGTTAAAGCAGCCATGGACGTTTTCTGGTTCTCACCTGGTGGCCTGAGCTGAGGATGAAAGCAGCTGTAATGTAATCCCAGCACTTTGGGAAGACAAGGTGGGCAGATCATTTGAGGTTGGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGTGGACACCTGTACTCCCAGCTACTTGGGAAACGAAGGCAGAAGAATCGTTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGTGCCAGTGCACTCCAGCCTGGGCGAAAGAGTGAGACTCTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGA
benign
115,811
Clinical significance of chromosome 7, position 5986754, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
ACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGTGCCAGTGCACTCCAGCCTGGGCGAAAGAGTGAGACTCTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACT
ACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGTGCCAGTGCACTCCAGCCTGGGCGAAAGAGTGAGACTCTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTNNNNN
pathogenic
115,815
Evaluate if the mutation on chromosome 7 at position 5986762 in PMS2 (PMS1 homolog 2, mismatch repair system component) is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
GGCAGAGCTTGCAGTGAGCTGAGATCGTGCCAGTGCACTCCAGCCTGGGCGAAAGAGTGAGACTCTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACT
GGCAGAGCTTGCAGTGAGCTGAGATCGTGCCAGTGCACTCCAGCCTGGGCGAAAGAGTGAGACTCTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTNN
pathogenic
115,817
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 5986794, gene PMS2 (PMS1 homolog 2, mismatch repair system component). What disease(s) is it linked to if pathogenic?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_4']
GTGCACTCCAGCCTGGGCGAAAGAGTGAGACTCTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTT
GTGCACTCCAGCCTGGGCGAAAGAGTGAGACTCTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTT
pathogenic
115,827
Considering the genetic mutation at chromosome 7, position 5986794, impacting PMS2 (PMS1 homolog 2, mismatch repair system component): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4']
GTGCACTCCAGCCTGGGCGAAAGAGTGAGACTCTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTT
GTGCACTCCAGCCTGGGCGAAAGAGTGAGACTCTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTN
pathogenic
115,828
Assess the variant on chromosome 7, position 5986807, impacting PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome']
TGGGCGAAAGAGTGAGACTCTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTG
TGGGCGAAAGAGTGAGACTCTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGN
pathogenic
115,830
Gene PMS2 (PMS1 homolog 2, mismatch repair system component) variant at chromosome 7, position 5986826—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4']
CTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTT
CTTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTN
pathogenic
115,834
Is the genetic variant on chromosome 7, position 5986827, gene PMS2 (PMS1 homolog 2, mismatch repair system component), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4']
TTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTG
TTGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGNNNNNNNN
pathogenic
115,835
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 5986828, gene PMS2 (PMS1 homolog 2, mismatch repair system component). What disease(s) is it linked to if pathogenic?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
TGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGA
TGTCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAN
pathogenic
115,836
A genetic variant at chromosome 7, position 5986830, affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
pathogenic; ['Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_4']
TCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGA
TCTCAAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAG
pathogenic
115,838
Chromosome 7, position 5986834, gene PMS2 (PMS1 homolog 2, mismatch repair system component): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4']
AAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGA
AAAAAAAAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGANN
pathogenic
115,839
For chromosome 7, position 5986840, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
AAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCG
AAAACAAAGGAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGN
pathogenic
115,842
Does the chromosome 7 mutation at position 5986849 within gene PMS2 (PMS1 homolog 2, mismatch repair system component) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms']
GAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCAC
GAGCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACN
pathogenic
115,844
Located at chromosome 7 position 5986851, the variant affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms']
GCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCC
GCTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCNNNNN
pathogenic
115,845
For chromosome 7, position 5986852, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_4']
CTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCA
CTGATATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAN
pathogenic
115,846
The mutation impacting PMS2 (PMS1 homolog 2, mismatch repair system component) on chromosome 7 at position 5986856: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4']
TATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCT
TATTGTTGTTTCTTTCTATAAGTGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTN
pathogenic
115,849
Variant on chromosome 7, at position 5986878, affecting PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_4']
TGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTG
TGCTCCAGGAAGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAA
pathogenic
115,854
Is the chromosome 7, position 5986888 variant in PMS2 (PMS1 homolog 2, mismatch repair system component) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
pathogenic; ['Lynch_syndrome_4']
AGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCA
AGACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTACCTAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAN
pathogenic
115,857
Located at chromosome 7 position 5986890, the variant affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4', 'PMS2-related_disorder']
ACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAG
ACCCGGTCCCATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGN
pathogenic
115,858
Considering the genetic mutation at chromosome 7, position 5986899, impacting PMS2 (PMS1 homolog 2, mismatch repair system component): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
CATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTC
CATGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCNN
pathogenic
115,861
Gene PMS2 (PMS1 homolog 2, mismatch repair system component) variant at chromosome position 5986901 on chromosome 7: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
TGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCC
TGCCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCN
pathogenic
115,862
Evaluate if the mutation on chromosome 7 at position 5986903 in PMS2 (PMS1 homolog 2, mismatch repair system component) is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['Hereditary_cancer-predisposing_syndrome']
CCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGG
CCACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGN
pathogenic
115,863
Considering the genetic mutation at chromosome 7, position 5986905, impacting PMS2 (PMS1 homolog 2, mismatch repair system component): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4', 'PMS2-related_disorder']
ACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGT
ACCATGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAATAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGG
pathogenic
115,864
A mutation at chromosome position 5986909 on chromosome 7 in gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
TGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCAC
TGCTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACN
pathogenic
115,866
A genetic variant on chromosome 7, position 5986911, affects the gene PMS2 (PMS1 homolog 2, mismatch repair system component). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms']
CTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGC
CTCGTCACCATCACAATCAACCACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCN
pathogenic
115,868
Clinical classification of chromosome 7, position 5986933, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? Disease(s) if pathogenic?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_1', 'likely other unspecified diseases']
ACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCT
ACAGGGGACAGTTTGGTGAACTGTGAGACCTCCACATGGCATGGATTACTGAGCCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCC
pathogenic
115,872
Does the variant impacting PMS2 (PMS1 homolog 2, mismatch repair system component) on chromosome 7, position 5986986, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_4']
CCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATT
CCCACATTTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTN
pathogenic
115,885
Mutation at chromosome 7, position 5986993, within PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4']
TTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTA
TTCCTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAN
pathogenic
115,887
Does the variant impacting PMS2 (PMS1 homolog 2, mismatch repair system component) on chromosome 7, position 5986996, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome']
CTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG
CTATGGTGAGGGGCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAAGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGN
pathogenic
115,888
Gene mutation in PMS2 (PMS1 homolog 2, mismatch repair system component) at chromosome 7, position 5987008—is it benign or pathogenic? If pathogenic, specify the disease(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4']
GCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCAC
GCTCCACACAGAGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACN
pathogenic
115,891
Determine whether the variant at chromosome 7, position 5987019, in gene PMS2 (PMS1 homolog 2, mismatch repair system component) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms']
AGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATA
AGCTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATANN
pathogenic
115,892
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 5987021, gene PMS2 (PMS1 homolog 2, mismatch repair system component). What disease(s) is it linked to if pathogenic?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
CTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGT
CTCAAATCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTN
pathogenic
115,893
Clinical classification of chromosome 7, position 5987027, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? Disease(s) if pathogenic?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4']
TCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGAT
TCCAAGTCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATN
pathogenic
115,895
Considering the genetic mutation at chromosome 7, position 5987033, impacting PMS2 (PMS1 homolog 2, mismatch repair system component): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Carcinoma_of_colon', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_4']
TCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTG
TCATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACACTTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCT
pathogenic
115,897
Regarding the variant at chromosome 7 and position 5987034, affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4']
CATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGA
CATAACCAAACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTG
pathogenic
115,898
A genetic alteration at chromosome 7, position 5987043, in gene PMS2 (PMS1 homolog 2, mismatch repair system component)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4']
ACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAG
ACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGA
pathogenic
115,901
Considering the genetic mutation at chromosome 7, position 5987043, impacting PMS2 (PMS1 homolog 2, mismatch repair system component): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
ACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAG
ACCAGTCCCCAAATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGN
pathogenic
115,902
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 5987055, gene PMS2 (PMS1 homolog 2, mismatch repair system component). What disease(s) is it linked to if pathogenic?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
ATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTG
ATCCTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTT
pathogenic
115,906
Is the genetic variant on chromosome 7, position 5987058, gene PMS2 (PMS1 homolog 2, mismatch repair system component), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4']
CTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCC
CTATCTTTGAGGGTCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTTTGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGC
pathogenic
115,908
Is the genetic mutation found on chromosome 7 at position 5987071, within the gene PMS2 (PMS1 homolog 2, mismatch repair system component), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4']
TCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTG
TCTGTTTCCTGGTACCAATTCCAGATCAGGCAGAGTGCAATCAATCAAGAGACAAAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGNNNNNNN
pathogenic
115,910
Clinical significance of chromosome 7, position 5987125, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome', 'Lynch_syndrome_4']
AAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAG
AAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCA
pathogenic
115,929
Determine whether the variant at chromosome 7, position 5987125, in gene PMS2 (PMS1 homolog 2, mismatch repair system component) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
AAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAG
AAAACCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGNN
pathogenic
115,930
Is the genetic mutation found on chromosome 7 at position 5987129, within the gene PMS2 (PMS1 homolog 2, mismatch repair system component), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome']
CCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAA
CCACACCAGTGATTTTAACAGGGACTTTTTTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAANN
pathogenic
115,931
Benign or pathogenic: chromosome 7, position 5987158, gene PMS2 (PMS1 homolog 2, mismatch repair system component) variant? Disease(s) if pathogenic?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
TTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGA
TTTTTTAAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGANN
pathogenic
115,941
A genetic alteration at chromosome 7, position 5987181, in gene PMS2 (PMS1 homolog 2, mismatch repair system component)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
TGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTT
TGTCACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTN
pathogenic
115,949
Is the variant located on chromosome 7 at position 5987184, gene PMS2 (PMS1 homolog 2, mismatch repair system component), benign or pathogenic? If pathogenic, specify the disease(s) linked.
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4', 'PMS2-related_disorder']
CACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAG
CACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGNN
pathogenic
115,950
Variant at chromosome position 5987185, chromosome 7, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
ACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGA
ACCCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGAN
pathogenic
115,951
Located at chromosome 7 position 5987187, the variant affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
CCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACC
CCAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCN
pathogenic
115,953
Does the variant on chromosome 7 at location 5987188 affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms']
CAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCA
CAGGCTGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAN
pathogenic
115,954
Does the chromosome 7 mutation at position 5987193 within gene PMS2 (PMS1 homolog 2, mismatch repair system component) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
TGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTG
TGGAGTGCAATGGCATGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCT
pathogenic
115,958
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 5987211, gene PMS2 (PMS1 homolog 2, mismatch repair system component): what disease(s) if pathogenic?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms']
TCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCC
TCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCN
pathogenic
115,966
Does the chromosome 7 mutation at position 5987232 within gene PMS2 (PMS1 homolog 2, mismatch repair system component) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms']
AACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAA
AACTCCTGGGCTCAAGTGAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAAN
pathogenic
115,976
Mutation at chromosome 7, position 5987249, within PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms']
GAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGT
GAGCCTCCTGCCTCAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTN
pathogenic
115,983
Does the variant on chromosome 7 at location 5987262 affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
CAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGT
CAGCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTNNNNNNNNNNN
pathogenic
115,987
Regarding the variant found on chromosome 7 at position 5987264 in gene PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
GCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAA
GCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTA
pathogenic
115,988
Regarding the variant found on chromosome 7 at position 5987264 in gene PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4']
GCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAA
GCCCCCTGAGTACCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAAN
pathogenic
115,989
Regarding the variant at chromosome 7 and position 5987276, affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome']
CCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTC
CCTGGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGGCAGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCT
pathogenic
115,993
Determine whether the variant at chromosome 7, position 5987279, in gene PMS2 (PMS1 homolog 2, mismatch repair system component) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4']
GGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGG
GGGACTACAGGCGTACAGCAATGTACTTAGCTAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGNNNNNNNNNNNNNN
pathogenic
115,995
Evaluate this variant at chromosome 7, position 5987336, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms']
TAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGA
TAGAGATGGGGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGANNNN
pathogenic
116,015
Is the genetic mutation found on chromosome 7 at position 5987345, within the gene PMS2 (PMS1 homolog 2, mismatch repair system component), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_4']
GGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATC
GGCCTCATTATATTGCCCAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCNN
pathogenic
116,018
The genetic variant at chromosome 7, position 5987398, affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
CCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGAC
CCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACN
pathogenic
116,033
Is the genetic mutation found on chromosome 7 at position 5987432, within the gene PMS2 (PMS1 homolog 2, mismatch repair system component), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4']
GGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGA
GGTGTGCACCACCATGTTAGGCCTGAGGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGAN
pathogenic
116,045
Does the variant impacting PMS2 (PMS1 homolog 2, mismatch repair system component) on chromosome 7, position 5987458, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Lynch_syndrome', 'Mismatch_repair_cancer_syndrome_4']
GGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATG
GGAGGAAAAATGTATAATAAGGCATTACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATAT
pathogenic
116,051
For chromosome 7, position 5987483, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
TACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAA
TACACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGCGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAN
pathogenic
116,057
A genetic alteration at chromosome 7, position 5987485, in gene PMS2 (PMS1 homolog 2, mismatch repair system component)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4']
CACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAA
CACAAACTAGTAAAAGGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAANNNNN
pathogenic
116,059
A genetic alteration at chromosome 7, position 5987500, in gene PMS2 (PMS1 homolog 2, mismatch repair system component)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms']
GGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGG
GGTGGTTAACTACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGN
pathogenic
116,064
The mutation impacting PMS2 (PMS1 homolog 2, mismatch repair system component) on chromosome 7 at position 5987510: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4']
TACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTAC
TACTATGCTAAGAAATACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACN
pathogenic
116,068
Clinical significance of chromosome 7, position 5987525, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
TACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGC
TACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCATTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGG
pathogenic
116,073
Variant in gene PMS2 (PMS1 homolog 2, mismatch repair system component), located at chromosome 7 position 5987525: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_4', 'PMS2-related_disorder']
TACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGC
TACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGG
pathogenic
116,074
Gene PMS2 (PMS1 homolog 2, mismatch repair system component) variant at chromosome position 5987525 on chromosome 7: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
TACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGC
TACAGGAATGGAAAATGCTACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCN
pathogenic
116,075
Determine whether the variant at chromosome 7, position 5987543, in gene PMS2 (PMS1 homolog 2, mismatch repair system component) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Mismatch_repair_cancer_syndrome_4']
TACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCC
TACTATCCTAGGGAAGAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCN
pathogenic
116,078
Is the genetic change at chromosome 7, position 5987558, within gene PMS2 (PMS1 homolog 2, mismatch repair system component) benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_1']
GAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCT
GAGGGAGAGTCCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTN
pathogenic
116,083
Determine if the mutation at chromosome 7, position 5987568 in gene PMS2 (PMS1 homolog 2, mismatch repair system component) is benign or pathogenic. If pathogenic, what disease(s) is associated?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_1']
CCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCT
CCTCAGAAAAGGAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGC
pathogenic
116,088
Regarding the variant at chromosome 7 and position 5987579, affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome']
GAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACC
GAACTCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCN
pathogenic
116,091
Mutation found at chromosome 7 position 5987583, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
pathogenic; ['Carcinoma_of_colon', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
TCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTG
TCTTTTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGN
pathogenic
116,093
Is the variant located on chromosome 7 at position 5987600, gene PMS2 (PMS1 homolog 2, mismatch repair system component), benign or pathogenic? If pathogenic, specify the disease(s) linked.
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_1']
TTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGA
TTTTTCTTTTTTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCTGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGAN
pathogenic
116,096
Gene PMS2 (PMS1 homolog 2, mismatch repair system component) variant at chromosome position 5987610 on chromosome 7: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms']
TTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGT
TTTTTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTTTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTN
pathogenic
116,098
A mutation at chromosome position 5987613 on chromosome 7 in gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Hereditary_cancer-predisposing_syndrome']
TTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCC
TTTTTTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCNN
pathogenic
116,099
Regarding the variant found on chromosome 7 at position 5987617 in gene PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
TTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTC
TTTGAGATGGAGTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATATCCCACTAATTTTGCATTTTTAGTAGAGAAAAGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGAAAAGGAACTCTTGTAAGAGGCTCCTACCCACTCAGGCTGAGTTTCAGACCTCCTTGGAGCAGGAGTGGCCGCAGCCTGCTGGATGGAGAGAAGCTGCCAGAGTGAGTGATGACACAGGAACTCCTGCCGCACAGGAGGGAAGGAAAAGAACATCCCAGAAGCATCCCAGATGCCAGCACAAATACCACCTCCCCTGGCGCCGATCCCAGGCTCTCCCAGGAATTGTCTGAATATGCCCTGGTTCCCAGTACATAGATAATCTGCTCAAAAGCTGGTGCTGGCCTAAAAGACCCAAGTCTTCCATGTGTTTGGAGTCTGTGTCCTGCCACAGAGAACAGGATCTGGCCAGGCGCAGATGCCGGAATTACAACTGCGCACTACCGCGCCCAGCCAATTTTATTGTAGAGACGAGGTCTCCCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTTGGCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCACACCTAGCCTCAAAATACTCTTAAGAAAAAACTTTACCTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCCAGCCAACATGGTGAAACCCTGTTTCCACCAAAAATATAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAACGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAAAAAATAAAAAATAAAAATAAAAATTTTAGATAAAAAGAGAAAAAGTAAAAAATTAAAACTTTACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTATACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTG
pathogenic
116,102
Variant in gene PMS2 (PMS1 homolog 2, mismatch repair system component), located at chromosome 7 position 5989798: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
GTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAA
GTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAN
pathogenic
116,116
Assess the variant on chromosome 7, position 5989821, impacting PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4', 'Malignant_tumor_of_breast', 'Mismatch_repair_cancer_syndrome_4']
GGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATG
GGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGNNNN
pathogenic
116,125
A genetic alteration at chromosome 7, position 5989826, in gene PMS2 (PMS1 homolog 2, mismatch repair system component)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
GGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCAT
GGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCA
pathogenic
116,127
A genetic variant on chromosome 7, position 5989831, affects the gene PMS2 (PMS1 homolog 2, mismatch repair system component). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4']
GGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATT
GGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACTAAATTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAA
pathogenic
116,129
Assess the variant on chromosome 7, position 5989831, impacting PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
GGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATT
GGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTNN
pathogenic
116,130
Clinically, how would you classify the variant at chromosome 7, position 5989867, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_4']
CCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATT
CCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAAT
pathogenic
116,137
Does the chromosome 7 mutation at position 5989872 within gene PMS2 (PMS1 homolog 2, mismatch repair system component) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
GCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATTTCATT
GCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATTTCATTN
pathogenic
116,138
Is the genetic mutation found on chromosome 7 at position 5989875, within the gene PMS2 (PMS1 homolog 2, mismatch repair system component), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms']
GGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATTTCATTTTA
GGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATTTCATTTTAN
pathogenic
116,139
Is the genetic mutation found on chromosome 7 at position 5989876, within the gene PMS2 (PMS1 homolog 2, mismatch repair system component), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_4']
GGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATTTCATTTTAT
GGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATTTCATTTTATN
pathogenic
116,140
Evaluate if the mutation on chromosome 7 at position 5989890 in PMS2 (PMS1 homolog 2, mismatch repair system component) is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['Colon_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4']
GCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATTTCATTTTATTCTTTGAGGCATTA
GCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAAAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATTTCATTTTATTCTTTGAGGCATTAN
pathogenic
116,143
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 5989891, gene PMS2 (PMS1 homolog 2, mismatch repair system component): what disease(s) if pathogenic?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms']
CTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATTTCATTTTATTCTTTGAGGCATTAG
CTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATTTCATTTTATTCTTTGAGGCATTAGN
pathogenic
116,145
Regarding the variant found on chromosome 7 at position 5989895 in gene PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
GAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATTTCATTTTATTCTTTGAGGCATTAGTCAC
GAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAACTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATTTCATTTTATTCTTTGAGGCATTAGTCACN
pathogenic
116,147
The genetic variant at chromosome 7, position 5989922, affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4']
GTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATTTCATTTTATTCTTTGAGGCATTAGTCACTAGTTGTACTGAAATGCCAATGGAACT
GTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATTTCATTTTATTCTTTGAGGCATTAGTCACTAGTTGTACTGAAATGCCAATGGAACTN
pathogenic
116,154
Determine if the mutation at chromosome 7, position 5989926 in gene PMS2 (PMS1 homolog 2, mismatch repair system component) is benign or pathogenic. If pathogenic, what disease(s) is associated?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
AACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATTTCATTTTATTCTTTGAGGCATTAGTCACTAGTTGTACTGAAATGCCAATGGAACTTACC
AACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTCATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATTTCATTTTATTCTTTGAGGCATTAGTCACTAGTTGTACTGAAATGCCAATGGAACTTAC
pathogenic
116,156
Considering the variant on chromosome 7, location 5989933, involving gene PMS2 (PMS1 homolog 2, mismatch repair system component), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer']
TTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATTTCATTTTATTCTTTGAGGCATTAGTCACTAGTTGTACTGAAATGCCAATGGAACTTACCTGAATCA
TTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGATAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATTTCATTTTATTCTTTGAGGCATTAGTCACTAGTTGTACTGAAATGCCAATGGAACTTACCTGAATCAN
pathogenic
116,160
Variant on chromosome 7, at position 5989934, affecting PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
TTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATTTCATTTTATTCTTTGAGGCATTAGTCACTAGTTGTACTGAAATGCCAATGGAACTTACCTGAATCAA
TTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATTTCATTTTATTCTTTGAGGCATTAGTCACTAGTTGTACTGAAATGCCAATGGAACTTACCTGAATCA
pathogenic
116,161
Does the genetic variant at chromosome 7, position 5989974, impacting gene PMS2 (PMS1 homolog 2, mismatch repair system component), appear benign or pathogenic? If pathogenic, name the associated disease(s).
benign
ATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATTTCATTTTATTCTTTGAGGCATTAGTCACTAGTTGTACTGAAATGCCAATGGAACTTACCTGAATCAACAGAAATGTTAAGAACAACAAATGGATACTGGTGTCGATT
ATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAGACGTGGATGAGGATGTTCATGACAGCATTCTTCATTATAGCCCCAAACTGGAAACAATTCAAATATTCACAAATGATGATATCTGACTATAATGGAACACTGTATAGCGAACGAATAAATGAATTTTGCCACATGACTTGGGTGAATCTCACAAACAAAATAATGAGAGAAAGAAACAAATCACAGAAAAGGACAGACTGAATAACTTCAAATTAAAAACAGATTAAACTATACCGTTTTGGGTTTTTTTTGTTTGTTTGTCTGTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCCCCTCCTCCCGGGTTCACGCCATTCTCCTGAGTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATTTCATTTTATTCTTTGAGGCATTAGTCACTAGTTGTACTGAAATGCCAATGGAACTTACCTGAATCAACAGAAATGTTAAGAACAACAAATGGATACTGGTGTCGATTNN
benign
116,170
Classify the chromosome 7 variant at position 5992000 affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component) as benign or pathogenic. If pathogenic, which disease(s) is associated?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
CATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATTTCATTTTATTCTTTGAGGCATTAGTCACTAGTTGTACTGAAATGCCAATGGAACTTACCTGAATCAACAGAAATGTTAAGAACAACAAATGGATACTGGTGTCGATTATACATGTGGTAGACCTCATTCACGAGTCTGCAGACCTGCACAAAATACAAGGAGTAGAAAAGAATAAATGACAAATGTTCCCAGCCCCCCGCATTCTAACAACATTCTATTCTAACCAACCAGCATGTTCTTAGAAGGGGATACTTTTTTGTTTTTTTTTTTTTTGAGTCAAGGTCTCGCCTTGTCACAGCCTGGAGTGCAGTGGAGCAATCATGGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCTGTGTCAGCCTGACATGTAACTTGGATTACAGGCAGGATTTTTTTTTCTTTTTTTTTTTCAACGGAGTCTCGCTCTTGTTACCCAGACTGGAGTGTAATGGCACGATCTTGGCTCACTGCAACCTCTGCCTCCGGGGCTCAAGTGATTATCCTGACTCAGCCTCCAGAGTAGCTGGGATTACAGGCACACGCCACCATGACCAGATAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGTTGATCCGCCCGCCTCAACCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACTACACCTGGCCTAAGGATACATTTTTTTAACAGCTTTACTGAGATATGACTAACATGGAATAAACTACACATATTTAAAGTGTGCAATTTCATAAGTTTTGACATATACACAAACACCTGTGAAACTATCCCCACAATCAAGATAATGAATATATCCATCACCAAAAGTTTCCTCACAATCTCAAAGTGATATTTCTCTAATCATAGATTCCTAAAACTGAATATTTTTCCAACTTAAAGTTGCTCTATGAGAAATTCTAGTGAAATGCAAGTGCAGCTTAAATGTTCATAAAACATATTCAATGTACATAGAAAAGTATCTATGACATTAAAATGTCATTAGAAATAAACCAAAATATCACATTATTAATAGTTATAATTAATAATTATGAATCCATCACACTATAGGTTAAAAAATTTAGAAGTTCAACCACATCTGGCAGATTACAAGCAAACTCTAAAGCATCATTGAAAAACAGGGGCTGGGAGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCAAGGCAGGTGGATTGCCTGAGCTCAGGAGTTCTTGACTAGCCTGGGCAACACAGTGAAACCCCATCTCTACTCAAATACAAAAAATTAGCCAGGCATGGCAGCATGTGCCTATAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGAGAGCTTGCAGTGAGCCAAGATCACGTCACTGCACTCTAGCCTGGGCGACAGAGCTAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAAAAACAAAATATTACTGAGGTACAATGTGTTGCTAAGATACAAACTCAAAAAACCCATGTCATCATATCAAGATGATCAATTTAAATCTGAGGCAGAAGTAATCTGAGCCCTTATTTTCCTAGGAAAATAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAATATAGAAACCATGTAATCAGTCTATACTGAAAGGTGACATAGAATGTTATAAAATGTTTAGTTTCTTCAAATAGTTTTAGTTTTTACAATAATAAATATACTGGTAATATGTGTTTATATATTTATGTATCTATACACACAACACATATAATGTA
CATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATTTCATTTTATTCTTTGAGGCATTAGTCACTAGTTGTACTGAAATGCCAATGGAACTTACCTGAATCAACAGAAATGTTAAGAACAACAATGGATACTGGTGTCGATTATACATGTGGTAGACCTCATTCACGAGTCTGCAGACCTGCACAAAATACAAGGAGTAGAAAAGAATAAATGACAAATGTTCCCAGCCCCCCGCATTCTAACAACATTCTATTCTAACCAACCAGCATGTTCTTAGAAGGGGATACTTTTTTGTTTTTTTTTTTTTTGAGTCAAGGTCTCGCCTTGTCACAGCCTGGAGTGCAGTGGAGCAATCATGGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCTGTGTCAGCCTGACATGTAACTTGGATTACAGGCAGGATTTTTTTTTCTTTTTTTTTTTCAACGGAGTCTCGCTCTTGTTACCCAGACTGGAGTGTAATGGCACGATCTTGGCTCACTGCAACCTCTGCCTCCGGGGCTCAAGTGATTATCCTGACTCAGCCTCCAGAGTAGCTGGGATTACAGGCACACGCCACCATGACCAGATAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGTTGATCCGCCCGCCTCAACCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACTACACCTGGCCTAAGGATACATTTTTTTAACAGCTTTACTGAGATATGACTAACATGGAATAAACTACACATATTTAAAGTGTGCAATTTCATAAGTTTTGACATATACACAAACACCTGTGAAACTATCCCCACAATCAAGATAATGAATATATCCATCACCAAAAGTTTCCTCACAATCTCAAAGTGATATTTCTCTAATCATAGATTCCTAAAACTGAATATTTTTCCAACTTAAAGTTGCTCTATGAGAAATTCTAGTGAAATGCAAGTGCAGCTTAAATGTTCATAAAACATATTCAATGTACATAGAAAAGTATCTATGACATTAAAATGTCATTAGAAATAAACCAAAATATCACATTATTAATAGTTATAATTAATAATTATGAATCCATCACACTATAGGTTAAAAAATTTAGAAGTTCAACCACATCTGGCAGATTACAAGCAAACTCTAAAGCATCATTGAAAAACAGGGGCTGGGAGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCAAGGCAGGTGGATTGCCTGAGCTCAGGAGTTCTTGACTAGCCTGGGCAACACAGTGAAACCCCATCTCTACTCAAATACAAAAAATTAGCCAGGCATGGCAGCATGTGCCTATAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGAGAGCTTGCAGTGAGCCAAGATCACGTCACTGCACTCTAGCCTGGGCGACAGAGCTAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAAAAACAAAATATTACTGAGGTACAATGTGTTGCTAAGATACAAACTCAAAAAACCCATGTCATCATATCAAGATGATCAATTTAAATCTGAGGCAGAAGTAATCTGAGCCCTTATTTTCCTAGGAAAATAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAATATAGAAACCATGTAATCAGTCTATACTGAAAGGTGACATAGAATGTTATAAAATGTTTAGTTTCTTCAAATAGTTTTAGTTTTTACAATAATAAATATACTGGTAATATGTGTTTATATATTTATGTATCTATACACACAACACATATAATGTAN
pathogenic
116,178
Assess the variant on chromosome 7, position 5992012, impacting PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4']
AAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATTTCATTTTATTCTTTGAGGCATTAGTCACTAGTTGTACTGAAATGCCAATGGAACTTACCTGAATCAACAGAAATGTTAAGAACAACAAATGGATACTGGTGTCGATTATACATGTGGTAGACCTCATTCACGAGTCTGCAGACCTGCACAAAATACAAGGAGTAGAAAAGAATAAATGACAAATGTTCCCAGCCCCCCGCATTCTAACAACATTCTATTCTAACCAACCAGCATGTTCTTAGAAGGGGATACTTTTTTGTTTTTTTTTTTTTTGAGTCAAGGTCTCGCCTTGTCACAGCCTGGAGTGCAGTGGAGCAATCATGGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCTGTGTCAGCCTGACATGTAACTTGGATTACAGGCAGGATTTTTTTTTCTTTTTTTTTTTCAACGGAGTCTCGCTCTTGTTACCCAGACTGGAGTGTAATGGCACGATCTTGGCTCACTGCAACCTCTGCCTCCGGGGCTCAAGTGATTATCCTGACTCAGCCTCCAGAGTAGCTGGGATTACAGGCACACGCCACCATGACCAGATAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGTTGATCCGCCCGCCTCAACCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACTACACCTGGCCTAAGGATACATTTTTTTAACAGCTTTACTGAGATATGACTAACATGGAATAAACTACACATATTTAAAGTGTGCAATTTCATAAGTTTTGACATATACACAAACACCTGTGAAACTATCCCCACAATCAAGATAATGAATATATCCATCACCAAAAGTTTCCTCACAATCTCAAAGTGATATTTCTCTAATCATAGATTCCTAAAACTGAATATTTTTCCAACTTAAAGTTGCTCTATGAGAAATTCTAGTGAAATGCAAGTGCAGCTTAAATGTTCATAAAACATATTCAATGTACATAGAAAAGTATCTATGACATTAAAATGTCATTAGAAATAAACCAAAATATCACATTATTAATAGTTATAATTAATAATTATGAATCCATCACACTATAGGTTAAAAAATTTAGAAGTTCAACCACATCTGGCAGATTACAAGCAAACTCTAAAGCATCATTGAAAAACAGGGGCTGGGAGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCAAGGCAGGTGGATTGCCTGAGCTCAGGAGTTCTTGACTAGCCTGGGCAACACAGTGAAACCCCATCTCTACTCAAATACAAAAAATTAGCCAGGCATGGCAGCATGTGCCTATAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGAGAGCTTGCAGTGAGCCAAGATCACGTCACTGCACTCTAGCCTGGGCGACAGAGCTAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAAAAACAAAATATTACTGAGGTACAATGTGTTGCTAAGATACAAACTCAAAAAACCCATGTCATCATATCAAGATGATCAATTTAAATCTGAGGCAGAAGTAATCTGAGCCCTTATTTTCCTAGGAAAATAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAATATAGAAACCATGTAATCAGTCTATACTGAAAGGTGACATAGAATGTTATAAAATGTTTAGTTTCTTCAAATAGTTTTAGTTTTTACAATAATAAATATACTGGTAATATGTGTTTATATATTTATGTATCTATACACACAACACATATAATGTATATATGCAGATA
AAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAAATTCACTTTTAACAATAGAAATTTCCCCATCTATTATTTCATTCACTTGTATTTATCACAAGTGCTATTAAAAACATTACAGTGTCCAGGTTAAGATTCATAAGTTATGAAATCAGCTTTTTCAAATAAATGAGCAAAAGACAATTTTTGAATAGACAAAATACGGAAGGGCTTAATTAGGTAAATTGTTAAAGGAAAAGCAAATAAACACATAAAAATAATTTTAAATATGCAAACTAAAATAAGATATTTTAATCCCCTACTGAATTTAGCTTAACAATTATAATACCTAGTACATTATAGGTAGGTGTGTAAATTGGTACATCTAGAACACAATACAGAAAAAGCCTTAAAATGATCATATTCACTGACCCAGTAATTCTACTCCCGGCAATTTATATTCAGAATAATTAAAGATGTAGGCTGAGTGCAGTGGCTCACACCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAACAGATAAGTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGTCAGGCATGGTGGCAGGTGCCTGTAATCCGTGCTACTCAGGAGGCTGAGGCGGGAGAATCGCTTGAACTCAGGAATCGGAGGTTACAGTGAGCTGATATTACACCACTGCACTCCAGCTTGGGAGACAGAGCAAGACTCTGTCTCAAAAAATATCTAATAATAAAGATGCAGATAATGATTTAATTATAAGGAAAGTATTTATAATTTCCAAAAACTAAAAACAATTTAATTTTGAAAAATTTAAAAATTAAAATACCAAACTATAACCATGCATTGGAATATAATTCACCTATTAAAACCACATTTCTGATCAATTTCTAATAACATGGAAAAGAAAACATTCACATCTAAGGATAAAGAGCAGTATACAAAATTATTTTCTCATCCCAAAGAATATGGGAGTAGGGGAGAGAGAGAGAAAGAGAGAGAGGACAGAAGATATTTTTTAAGGTATGTACATATGTGTTTCTAAGTATCTAGAAAAAATACTCAATTACAATAAACCAAAATTTTAACAATCAGAAAAAAAAATCTATATGAAATGAATTATTTATGAAATTAGGAAGAACATTTCATCTACTTTCTCCCTTGGTTGACATTAAAAAAAATTACATTTTCCTAACAATATAATTAACATAGTCTCAAGTAGAAAGCGGGAACTCTGTTTAAAAAAAAAAAAAATTATAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACCACACTCCAGCCTGGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATTTCATTTTATTCTTTGAGGCATTAGTCACTAGTTGTACTGAAATGCCAATGGAACTTACCTGAATCAACAGAAATGTTAAGAACAACAAATGGATACTGGTCGATTATACATGTGGTAGACCTCATTCACGAGTCTGCAGACCTGCACAAAATACAAGGAGTAGAAAAGAATAAATGACAAATGTTCCCAGCCCCCCGCATTCTAACAACATTCTATTCTAACCAACCAGCATGTTCTTAGAAGGGGATACTTTTTTGTTTTTTTTTTTTTTGAGTCAAGGTCTCGCCTTGTCACAGCCTGGAGTGCAGTGGAGCAATCATGGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCTGTGTCAGCCTGACATGTAACTTGGATTACAGGCAGGATTTTTTTTTCTTTTTTTTTTTCAACGGAGTCTCGCTCTTGTTACCCAGACTGGAGTGTAATGGCACGATCTTGGCTCACTGCAACCTCTGCCTCCGGGGCTCAAGTGATTATCCTGACTCAGCCTCCAGAGTAGCTGGGATTACAGGCACACGCCACCATGACCAGATAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGTTGATCCGCCCGCCTCAACCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACTACACCTGGCCTAAGGATACATTTTTTTAACAGCTTTACTGAGATATGACTAACATGGAATAAACTACACATATTTAAAGTGTGCAATTTCATAAGTTTTGACATATACACAAACACCTGTGAAACTATCCCCACAATCAAGATAATGAATATATCCATCACCAAAAGTTTCCTCACAATCTCAAAGTGATATTTCTCTAATCATAGATTCCTAAAACTGAATATTTTTCCAACTTAAAGTTGCTCTATGAGAAATTCTAGTGAAATGCAAGTGCAGCTTAAATGTTCATAAAACATATTCAATGTACATAGAAAAGTATCTATGACATTAAAATGTCATTAGAAATAAACCAAAATATCACATTATTAATAGTTATAATTAATAATTATGAATCCATCACACTATAGGTTAAAAAATTTAGAAGTTCAACCACATCTGGCAGATTACAAGCAAACTCTAAAGCATCATTGAAAAACAGGGGCTGGGAGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCAAGGCAGGTGGATTGCCTGAGCTCAGGAGTTCTTGACTAGCCTGGGCAACACAGTGAAACCCCATCTCTACTCAAATACAAAAAATTAGCCAGGCATGGCAGCATGTGCCTATAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGAGAGCTTGCAGTGAGCCAAGATCACGTCACTGCACTCTAGCCTGGGCGACAGAGCTAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAAAAACAAAATATTACTGAGGTACAATGTGTTGCTAAGATACAAACTCAAAAAACCCATGTCATCATATCAAGATGATCAATTTAAATCTGAGGCAGAAGTAATCTGAGCCCTTATTTTCCTAGGAAAATAGAAAGAAGAGAAAATATAGAAATCTATAGAAAATATAGAAACCATGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACAGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGTGCCTGTAGTCCTAGCTACTAGAGAGGCTGGGGCAGGAGAATGGCGTGAACCTGGGAGGCGGTGCTTGCAGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAATATAGAAACCATGTAATCAGTCTATACTGAAAGGTGACATAGAATGTTATAAAATGTTTAGTTTCTTCAAATAGTTTTAGTTTTTACAATAATAAATATACTGGTAATATGTGTTTATATATTTATGTATCTATACACACAACACATATAATGTATATATGCAGATANN
pathogenic
116,181