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
Does the variant impacting HNF4A (hepatocyte nuclear factor 4 alpha) on chromosome 20, position 44355804, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Maturity-onset_diabetes_of_the_young_type_1', 'Monogenic_diabetes']
TGGGAAATTGACATAGGGTTAGCAAACCTCCCCCACCCCCATATAAAAATATTAATACTTTTTTTTTTTCTGAGATGGAGTCTGGCTCTGTCGCCAAGGCTGCAGTGCAGTAGTGCAATCTTGGCTCACTGCAACATTTGCCTCCTAGGTTGAAACGATTCTCCTCCTTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCTCGCTGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGATTACACCGTGTTGGCCAGCCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAACTGCTGGGATTACAGGCATGAGCCACTACACCCGACCAAGAATATTAATACTTTTTTTTAAAAAATATCGAAGTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTGAGATGGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGTCCCCCTGGTTCAAACGATTCTCTTGCCTCAGCCTCCCGTTTGCCACCATGCCCGGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGCCTCAAACTCCTGACCTCGTGATCGGTGCGCCTCGGCCTCCCAAAATGCTGGGGTTACAGGCGTGAGCCACTGCACCCGGCCCCAAAATCTAACGTTTGTTATCACTGTTGTTTTAGAAAAGAAAGGACATTTTAATGCAACCCATGCCCATCTGTAGGGGCTGAAGGTCCCTCTGAGGTGATTGATAAAGCTGAAAAAAGAGACTATGGGAAGAGAAGAGGAATATTATCAATTAGCTATTTTAGAAGCAGGGCAAACTATGAGCTAGGTATTCCTATAAGGAAATGAAATAATTTACTAAAAAACATACAGCAAGAAAATAATAGAGCTGGAGTTTTCTGATTTTTCTGAGTCCAGAATTTGTTTCACTGTTCTCATTTCAGCTCTCTCTAACAGGATGAATGACCTTGATTTCAGAATCCCCAAGCAGGTGGTGAGATCCAAAACTGAGACAAAAGAAACGGGGCTGTTCCAAAAAAAAAGCTAGGTGGCAGGTGTCTAACATGCCAGGGAGCTAAAACAGAGTGTGTGAGTTTCAGCAGCAGGTTGAATTTAGAATGGGGAAGGAGACCAGAGGAGACGCCAGACAGGATGACTTTGTCCCATTGGCCTGGAGGCAGCCCCATGTTTCTCCACCCCTCATATCACTCACCAGTTTGTAATAGTATCTTTGAATGACGATCTGATTAAGGTCCGTCTCCTCCATTAGTCCACAAGTTTCGGGGGTACATCTACTTTGCTCATTTCCATATCCCCAGAGTCTAGCACAAGGCCTGGTACATAGTAGGTGCTCAATAAATATGTTAGATGAAAGGAAGATAACACCTCTATGTACTAGCAGTGAGACTCCAGGCATGCAATTTCTCTCTGTCCTTCAGTCCCTTCATCTCAAGGTTTAATTTAAATATGGTAACGCCTGTATGCAACTCCCAGCATCCAGTAGGCACTCACTAAACACAGTTCTCCACCCTCCTTTTTTCCTCTGCCCCTCCCTCGGTTTTCCCACTACTTCCTGCATGGTGACACACCCATAGTTTGGAGCCATAAAACCCAACCCAGGTTGGACTCTCACCTCTCCAGCCCCTTCTGCTCCGGCCCTGTCCTCAAATTGGGGGGCTGATGTCCCCATACACCTGGCTCTGGGTTCCCCTAACCCCAGAGTGCAGGACTAGGACCCGAGTGGACCTCAGGTCTGGCCAGGTCGCCATTGCCATGGAGACAGCAACAGTCCCCAGCCGCGGGTTCCCTAAGTGACTGGTTACTCTTTAACGTATCCACCCACCTTGGGTGATTAGAAGAATCAATAAGATAACCGGGCGGTGGCAGCTGGCCGCACTCACCGCCTTCCTGGTGGACGGGCTCCTGGTGGCTGTGCTGCTGCTGTGAGCGGGCCCCTGCTCCTCCATGCCCCCAGCTCTCCGGCTGGGTGGGCTTGGCCATGGTCAGCGTGAACGCGCCCCTCGGGGCTCCAGTGGAGAGTTCTTACGGTAAGTGGGGCTGGGGGAAGACTGGACAGGGCGGGACTGCGGTCAGCTTTGGGAGGCCATGGGACACCTCCCCGTGTGTTTCTTACGGGCCCAAAGCTCCTCCTGGAGCTCCTCTGGAAGGGCAGGAAGCCCCACGGAGGCAATGTGACCGCTTCCCTAAGCTCTCAAGCCGGGGCATGGCCTGCTTGGTGCGAGAAGTGCTGGGAGGGGCCGAGAAGCCCTGGGGCAGAGGCTTGGCTCATTTTGTCTGTCCAGAGGCCTTCCTGGGAATGCATCTCAGGGGTCTTTCCAAAACCCCACAGAGGGTGGGGCTTGGAAGCACCGTCCTGTTTCGATGCGGGGCAAATTGAGGTCCACCAGGAGAGGCTTGCTGGGCCTAGGTCACGTTGCTGGTGCATTATCAAGCTGGGCGTGGGACCGGGCAGCTCGGTCGCTCCGCACCTCCGTTGGCTCTGGATAATGGGGAGGAGGTAGAAAGCGCCGCGCAGGGTGGAGCGTTGGAAAATGAGAATATCTTGTGCGGACGTGTGAAACTCAGATGCAGGGCTAGAAAGCATGTGTTACTGAGAGTGAAAGGCTCAGGCTCACTCCTTAGGGTGACCCCCACATTGGAAGCAACCCAATGTCCCTCAGCAGAGGGAAGACGGGTAAATAAAGCGTGAGACGTCTTTACAGTGGAATGCTATCCCATTGTTCAAGGAAACAACGCACATCTGTGTGTGACAGGGAAGAACCTCTCAGTTAAATTAAGTGAAAACGGTACACTGAAGAACTGTGTAGTTGCTGATAGCGAAACGGATATAGATGTATATATGTACACACGCGTATACGTGTACATTCCACGCATAGAAAATTCGTGGAATGACACAATAAAATTGGTGACAGGTTTGTTTCTGAGGAGGGAAATTCAAGAGAATGTTTTATCTTTTGGGGACACATTTTGGATTTTTTAAAAGTTGGGTGCCTTTTATAAACCTGTTCAAATCACACACCCGCACAGAACTTGGTCTCTGGAATCCAGCAGACCTCGGGGTCTAGTTGTGACTCTGTCACACGGCTCAACATTCACGTGCCTCTTGCTTTCTTTCTGAAGTGGAGACAGGACTAGGATGTGTCTTAAGATCATGGTGGATGCCGTGGGGAACAAGGATGTAAAGCCCTTGATACCACGTGCATTGCAAAGACACAATCAACATTTATGTCATCAATTGCTGAGGACAGAGGGCCAGGGAATGACAGAATCAGGGCCTGATCTCCTGACTCTAGTCAGGAAGAATCTTCTTTGCTTTGACCCCCATCAAACAGGAATATGTGATGCACTGGAAATGGCAGAGGCTGAAGAAACCAACAGCCTGGGAACCCATCCCACACACCAGCTGTGTGACCTTGGGCAAGACATTTCCCCTCTCTGAACCTATTTCCTCATCTGTAAAATGAAGATAACAACAGGACCTATCTCCCAGAGAGCGGGGAGATTAGAGGAGATAGCATAGAGGAGATTAAGGGTGAGGCCACCCTTAATCCACAATTTTAAGACCTGGAGTATAGATGCCAATGGATGACTTGGTTGAACCTGTGGCTAGGGGAAGACATTGTCTCTCAAAGGGGCCAGACAGCTTCTGGGGAAGGACAGCCCAGGTCATAAGGCTAAGCTAGGGGTGAACAGAAGGCCCCACAGTGTCTCTTAAAGGATGATACAATAATATAACCTGACAGCCTTTCACTGTCTCCCACGTCTCTGCACCTTGTAGGATGTCCTCATGTCTCTTCATCTCTGCTCCTGTGTCATACTCATTATATAGCAAACATTCAGCAATTATTAGAATGGTTGCTTCTATCGACAGGTAGGTGGGTGAATGGATGGATGAATGGGTTAGTGAATGTTCTACTATTATCTCTCAGACAGCTGTTTCATTTTCCAAACGGCTGTCTGAGATAAATAATATTGTAATCTCCAAGGACAGAAGAAAAAACTAAGGTTCAAGATTAAAAAAAAAA
TGGGAAATTGACATAGGGTTAGCAAACCTCCCCCACCCCCATATAAAAATATTAATACTTTTTTTTTTTCTGAGATGGAGTCTGGCTCTGTCGCCAAGGCTGCAGTGCAGTAGTGCAATCTTGGCTCACTGCAACATTTGCCTCCTAGGTTGAAACGATTCTCCTCCTTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCTCGCTGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGATTACACCGTGTTGGCCAGCCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAACTGCTGGGATTACAGGCATGAGCCACTACACCCGACCAAGAATATTAATACTTTTTTTTAAAAAATATCGAAGTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTGAGATGGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGTCCCCCTGGTTCAAACGATTCTCTTGCCTCAGCCTCCCGTTTGCCACCATGCCCGGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGCCTCAAACTCCTGACCTCGTGATCGGTGCGCCTCGGCCTCCCAAAATGCTGGGGTTACAGGCGTGAGCCACTGCACCCGGCCCCAAAATCTAACGTTTGTTATCACTGTTGTTTTAGAAAAGAAAGGACATTTTAATGCAACCCATGCCCATCTGTAGGGGCTGAAGGTCCCTCTGAGGTGATTGATAAAGCTGAAAAAAGAGACTATGGGAAGAGAAGAGGAATATTATCAATTAGCTATTTTAGAAGCAGGGCAAACTATGAGCTAGGTATTCCTATAAGGAAATGAAATAATTTACTAAAAAACATACAGCAAGAAAATAATAGAGCTGGAGTTTTCTGATTTTTCTGAGTCCAGAATTTGTTTCACTGTTCTCATTTCAGCTCTCTCTAACAGGATGAATGACCTTGATTTCAGAATCCCCAAGCAGGTGGTGAGATCCAAAACTGAGACAAAAGAAACGGGGCTGTTCCAAAAAAAAAGCTAGGTGGCAGGTGTCTAACATGCCAGGGAGCTAAAACAGAGTGTGTGAGTTTCAGCAGCAGGTTGAATTTAGAATGGGGAAGGAGACCAGAGGAGACGCCAGACAGGATGACTTTGTCCCATTGGCCTGGAGGCAGCCCCATGTTTCTCCACCCCTCATATCACTCACCAGTTTGTAATAGTATCTTTGAATGACGATCTGATTAAGGTCCGTCTCCTCCATTAGTCCACAAGTTTCGGGGGTACATCTACTTTGCTCATTTCCATATCCCCAGAGTCTAGCACAAGGCCTGGTACATAGTAGGTGCTCAATAAATATGTTAGATGAAAGGAAGATAACACCTCTATGTACTAGCAGTGAGACTCCAGGCATGCAATTTCTCTCTGTCCTTCAGTCCCTTCATCTCAAGGTTTAATTTAAATATGGTAACGCCTGTATGCAACTCCCAGCATCCAGTAGGCACTCACTAAACACAGTTCTCCACCCTCCTTTTTTCCTCTGCCCCTCCCTCGGTTTTCCCACTACTTCCTGCATGGTGACACACCCATAGTTTGGAGCCATAAAACCCAACCCAGGTTGGACTCTCACCTCTCCAGCCCCTTCTGCTCCGGCCCTGTCCTCAAATTGGGGGGCTGATGTCCCCATACACCTGGCTCTGGGTTCCCCTAACCCCAGAGTGCAGGACTAGGACCCGAGTGGACCTCAGGTCTGGCCAGGTCGCCATTGCCATGGAGACAGCAACAGTCCCCAGCCGCGGGTTCCCTAAGTGACTGGTTACTCTTTAACGTATCCACCCACCTTGGGTGATTAGAAGAATCAATAAGATAACCGGGCGGTGGCAGCTGGCCGCACTCACCGCCTTCCTGGTGGACGGGCTCCTGGTGGCTGTGCTGCTGCTGTGAGCGGGCCCCTGCTCCTCCATGCCCCCAGCTCTCCGGCTGGGTGGGCTTGGCCTGGTCAGCGTGAACGCGCCCCTCGGGGCTCCAGTGGAGAGTTCTTACGGTAAGTGGGGCTGGGGGAAGACTGGACAGGGCGGGACTGCGGTCAGCTTTGGGAGGCCATGGGACACCTCCCCGTGTGTTTCTTACGGGCCCAAAGCTCCTCCTGGAGCTCCTCTGGAAGGGCAGGAAGCCCCACGGAGGCAATGTGACCGCTTCCCTAAGCTCTCAAGCCGGGGCATGGCCTGCTTGGTGCGAGAAGTGCTGGGAGGGGCCGAGAAGCCCTGGGGCAGAGGCTTGGCTCATTTTGTCTGTCCAGAGGCCTTCCTGGGAATGCATCTCAGGGGTCTTTCCAAAACCCCACAGAGGGTGGGGCTTGGAAGCACCGTCCTGTTTCGATGCGGGGCAAATTGAGGTCCACCAGGAGAGGCTTGCTGGGCCTAGGTCACGTTGCTGGTGCATTATCAAGCTGGGCGTGGGACCGGGCAGCTCGGTCGCTCCGCACCTCCGTTGGCTCTGGATAATGGGGAGGAGGTAGAAAGCGCCGCGCAGGGTGGAGCGTTGGAAAATGAGAATATCTTGTGCGGACGTGTGAAACTCAGATGCAGGGCTAGAAAGCATGTGTTACTGAGAGTGAAAGGCTCAGGCTCACTCCTTAGGGTGACCCCCACATTGGAAGCAACCCAATGTCCCTCAGCAGAGGGAAGACGGGTAAATAAAGCGTGAGACGTCTTTACAGTGGAATGCTATCCCATTGTTCAAGGAAACAACGCACATCTGTGTGTGACAGGGAAGAACCTCTCAGTTAAATTAAGTGAAAACGGTACACTGAAGAACTGTGTAGTTGCTGATAGCGAAACGGATATAGATGTATATATGTACACACGCGTATACGTGTACATTCCACGCATAGAAAATTCGTGGAATGACACAATAAAATTGGTGACAGGTTTGTTTCTGAGGAGGGAAATTCAAGAGAATGTTTTATCTTTTGGGGACACATTTTGGATTTTTTAAAAGTTGGGTGCCTTTTATAAACCTGTTCAAATCACACACCCGCACAGAACTTGGTCTCTGGAATCCAGCAGACCTCGGGGTCTAGTTGTGACTCTGTCACACGGCTCAACATTCACGTGCCTCTTGCTTTCTTTCTGAAGTGGAGACAGGACTAGGATGTGTCTTAAGATCATGGTGGATGCCGTGGGGAACAAGGATGTAAAGCCCTTGATACCACGTGCATTGCAAAGACACAATCAACATTTATGTCATCAATTGCTGAGGACAGAGGGCCAGGGAATGACAGAATCAGGGCCTGATCTCCTGACTCTAGTCAGGAAGAATCTTCTTTGCTTTGACCCCCATCAAACAGGAATATGTGATGCACTGGAAATGGCAGAGGCTGAAGAAACCAACAGCCTGGGAACCCATCCCACACACCAGCTGTGTGACCTTGGGCAAGACATTTCCCCTCTCTGAACCTATTTCCTCATCTGTAAAATGAAGATAACAACAGGACCTATCTCCCAGAGAGCGGGGAGATTAGAGGAGATAGCATAGAGGAGATTAAGGGTGAGGCCACCCTTAATCCACAATTTTAAGACCTGGAGTATAGATGCCAATGGATGACTTGGTTGAACCTGTGGCTAGGGGAAGACATTGTCTCTCAAAGGGGCCAGACAGCTTCTGGGGAAGGACAGCCCAGGTCATAAGGCTAAGCTAGGGGTGAACAGAAGGCCCCACAGTGTCTCTTAAAGGATGATACAATAATATAACCTGACAGCCTTTCACTGTCTCCCACGTCTCTGCACCTTGTAGGATGTCCTCATGTCTCTTCATCTCTGCTCCTGTGTCATACTCATTATATAGCAAACATTCAGCAATTATTAGAATGGTTGCTTCTATCGACAGGTAGGTGGGTGAATGGATGGATGAATGGGTTAGTGAATGTTCTACTATTATCTCTCAGACAGCTGTTTCATTTTCCAAACGGCTGTCTGAGATAAATAATATTGTAATCTCCAAGGACAGAAGAAAAAACTAAGGTTCAAGATTAAAAAAAAAAN
pathogenic
313,657
A mutation at chromosome position 44401297 on chromosome 20 in gene HNF4A (hepatocyte nuclear factor 4 alpha): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
benign
CTCAGAGTCTTGTCCTGGCTAACAGAAAACTGAGCCAGGATCATCTTTCTATTTTACAGAGGGAGAAATTGAAGCCCTGAGAAGAGACGATGTAAATAAAGTTATCGGAATAGTGACTGAGCTAGTTCCTAACCCCAGGTCTCCTGACATCAAATCTAGCCTCTCTTGTCCTCCACAACAGTTGCTCCCTCTCCCCTTTCCCTACAGGCAATAGCACTCCCCAGTCATCTCAGCTTCAGAGGTCAGATCAAGTGGACAGAATAAAGCTAAGCAGGGCAGAGAAAGGGCTTCTAGCAGTGGAAAGAACATGAAGATGCCTCCTCATACCACTCGAACACACATGCCCTGACTCCCGATTTGCTCACTCATTAATCCACCCACACATTCACTCATTCACTCACTCATTAATTCACCCACCCATTCACTCATTAATTCACCCACCCATTTGCTCACTTACTCAGTAATTTACCCTCATTCGTTCATTCACTCACTCATTCATGCATTCACTCAACTCACTCATTAATTCTCCCTGTCTCTAATTCACTCACTCCTAATTCACCCACTCATCAATTCCCCCACACACTCACTCATTAATTGGTGCTCCCACTAATTCGCCCACTCTTGCTCACAGGTGTCACCGAGGCCCTCCAACCTGCCCTTCCAGCCAGCAGTGGAGGACAGGCTCCCAGGCCTCCCAAGTCTCAGGCTTTTCTTCCTCTGCCCTCACTCTCTGCCTTCTACATCAAGACTTTACTTCCCCAGATTGATTGGCAGCCCTTGAAAATGTCTGCACAGAAGGCAATGAGGGCTGGAGGGAGTGAGAAGAACAGAGTGCACCATGAGCTTCAGACAGCCAGGACCAGCTGTGTAATTTTCAGGGCCCCGTCCAAAACAAAAATGCACAATCCCTTGTTCAAAAGTCATGATGAATTTTAGGACAACCACAGCAGAGCACTGAACCAGGAACCAGGACTTTCTAAGGGTTGGGTTGCCTGTGACTGCACTGGCGATACCCCCACAAAGCCCACTCTGAAGGTAGGAGACGGGTGGAGAGAAACAGGGGGATGGCAAGGGGGATACGAAACAGGGAGAGGGAGGAGGGGGAAGAGGATGGACGTCTACCAGGCCCCACTTGGTGCTTGATTTATGCCATCTCATTTCCTTCTCAAACCACCCTTTGAAGTTGATTGTACATTTTACAGAAAAGGAAACTGAGGCTCGGAGAGGAGAATCATTTACCCAAGGTCCCAGTTAGTAGACGGTAGGTGCCTGAATGTAAATCCAGGTCTCTGCCTGCTCCGGGAGGGGGTGGGGGTGAGGGAAACAGGAGAATGTGATGGGAAAATCCGAGATGGAGCCAGCCTGGGCCAGAAACACTGGGAGCTGTGGGAGACGGAGAGGGGCAGGGTGGGATCACAGGGAGCAGGAGCGGGGAATTGGAGGTGAATCTGGCCCTCCCAAACTTCCAGTCCATTCTGCTCCCAGGGGAACCGGGAAACTGCGGGGGAACTGGAAGGGAGCTCCCAGAACAAGGATCCAGAAGATTGGCATCTGGGGCCTGGGATTTAGGTTTCTAAATCGTGGGCCATGGGGCAGCCTTATCTCTGCAAAAGCATTGAGGGTAGAAGTCAATGATTTGGGAAGTTATTGAATTAGGGGATCTCGGAGGTAGGCTGTCAGTGCCTGATAGTATCAGTTAGAATGCCTGACTTGGGGTGACAATGGCTTGGAGGGGTGGGTGAGTCAAGGGTCAAATGAGTGCCCGTGAGTCATGATGCCTGCCTTGTACAATTGATAACTGAACATCGGTGAGTTAGGGCCCCAGCAGTTGTAATTAGCACCCCGGGTGTCAGCCAGAAACCAACAAACAGCCAAATCCCTGCAGCCCCGCCCAGCCTATCCACCGGCGGGGGACCGATTAACCATTAACCCCCACCCCTCCCCGGCAGAGCCTCCACCCCTTCACAGAGGCTAGGCCAAGACTCCCAGCAGATCTTCCCAGAGGACGGTTTGAAAGGAAGGCAGAGAGGGCACTGGGAGGAGGCAGTGGGAGGGCGGAGGGCGGGGGCCTTCGGGGTGGGCGCCCAGGGTAGGGCAGGTGGCCGCGGCGTGGAGGCAGGGAGAATGCGACTCTCCAAAACCCTCGTCGACATGGACATGGCCGACTACAGTGCTGCACTGGACCCAGCCTACACCACCCTGGAATTTGAGAATGTGCAGGTGTTGACGATGGGCAATGGTAGGTGGGGGCAGATGTGCCCAGGTGTGCCAGTGGGGGCAGGTGTGCCTGGGTCCAGGAGCAGATCTTTGGCACTCAACTTTGGGGTGGGAGGAGAATGATACAAAATGGTAGGTTGGTCCTACAGGCCAGCACAGGTGTTGCCAAGTGAAGCCCATGTGCCCAGGCACAGTGATCACAGGCATTCTGGGTGAAGGGAGGCCTGCAAGGGCCAATTTCCAGCAAAAGTCGATCCCGGCTATTCCTCCCAGGCCCTTCCAGTCCTCACTGCCTCACAGTGGCTCTGCTTGGCGCTTGGCACAGTGACGTGATGGTGAGCTCCCCCTTGGTGCCCAGCTCCAGCGATTCAGCCCAGCACGGCCCCTTCGTGAACCCCTTGGGCCTAGGTTCAGAGAGACGGCAAGGGATGTTGTATCCCTGGAGATGGTGGTTGGAGACATAACCGCATTTCTCGGTGTCTTTGGGACTTTCCTAGGGAAATGAAATTGGCACTTAGGGAAAATGGAGCTCTCAGGGAAGTTTTGCTAACTACGAAGCCAACTCAGCACTGTGTGTGTTGTGTGTGCGTTCGTGTGTGATAGTGAGTTTCCATGTAGGTTGTATGGGTGGGGTGATGCCTTCAGGAACCCATTTGCATATGTGTGTTCATTTGTCTCTGTGTGTGAGTTCTGGGTCTATTTTCCTTTGTATTCATTGAGTGGGTCTGTGTTTGTGTCTTAGGAGTTGCCCGTGTTGATCTTGCTTATGTATGTAAGTGTGTATGTGTGTGTACTTGTGTCTGTGGATGTTTGTACATGTGTGCTGTGTGTGCGGGTCATAGAGCACATGCGTTTGTGCATGCGGACCTGTTGGAGTGCCCTGTTCTTCCTGCATCTTTATCCTGTATGGGCGTTTTGTCGTGTGCCCATATTTGTACCTGCTGTGTATATATGCAGTTCCCTGTGCTGCGGGCGGGGGTCAGCGGTCTCTGGTGTGCACGACTGCACAGACCCAAATGCAGGACTCTGTTGTTGCCACTCACCAAGTGAGATTCATATCAGCAACATGTCCGTTTGTCTCTGAGCAGATTTTGTTGCCGCTGCGTCTCGCCAGATTGAGGCATCCCCTCCGACATCACTGGAGCATATCTGGAGGGGTGGACAGTTCTCCACAGGGAGGTAGGGGAAAAGAGGAGGCCCGGAAACCCCTCCTGGAGGGAAGAGCCCCATCGGTCCCAGGCCAGCCTCAGAGGAGAGGGGGCAGGCAGCTGGCTGAGGTCAGCCTGCCACCCTGCTTCCTTCTGTGTCTTGGAGCCACTCAGCCAGTATGAGGCTGCAGCTCCAGCTGAGGTCTGGAATCTTGTGGTCAGCTCAGCTAGGGTGAGGAGGCAGCTGCTGGGCACTGCTTGTTGTCAGCTCAGCAGGTGCTCACCTGCCCCTGCCGTCCAGTCACGTGTGACCTTGGGCATGTCACCTCCCCTATCCTGGCTTCTGTATCTTCTACAAAACAGGCTTCATTCCCCCAGGCCTGCTGGCTGGACGGCTTTTAGGCCTGTCTGAGGACCACGCCAGGAGCGCAAGGCAAAAACACACCAGAGATAGCAAACAAGCTGCTGCTGCACTAGGTGGAGTGTTGTGTGGCCCCACGAGGACCACTGCCCTGCCCTGGGCTGCTCCCCGCCCCCATCACTTTTTCCAAGCCCAGGAACTGTGTGCTCCTGAGGCAGAGGCCAAGCCCCTGAACTGGGAGTCCCAAAGACAAGACCACCTCCAGCTCTGGAACCAGAAAGATCTGGGCTCAAATCCGGCATAGATCCTTCCAACCTGTGTGAATGTGGCAAGGCAATTTCCTCTCTGAGCCTCAGTTTCCTCACCTATA
CTCAGAGTCTTGTCCTGGCTAACAGAAAACTGAGCCAGGATCATCTTTCTATTTTACAGAGGGAGAAATTGAAGCCCTGAGAAGAGACGATGTAAATAAAGTTATCGGAATAGTGACTGAGCTAGTTCCTAACCCCAGGTCTCCTGACATCAAATCTAGCCTCTCTTGTCCTCCACAACAGTTGCTCCCTCTCCCCTTTCCCTACAGGCAATAGCACTCCCCAGTCATCTCAGCTTCAGAGGTCAGATCAAGTGGACAGAATAAAGCTAAGCAGGGCAGAGAAAGGGCTTCTAGCAGTGGAAAGAACATGAAGATGCCTCCTCATACCACTCGAACACACATGCCCTGACTCCCGATTTGCTCACTCATTAATCCACCCACACATTCACTCATTCACTCACTCATTAATTCACCCACCCATTCACTCATTAATTCACCCACCCATTTGCTCACTTACTCAGTAATTTACCCTCATTCGTTCATTCACTCACTCATTCATGCATTCACTCAACTCACTCATTAATTCTCCCTGTCTCTAATTCACTCACTCCTAATTCACCCACTCATCAATTCCCCCACACACTCACTCATTAATTGGTGCTCCCACTAATTCGCCCACTCTTGCTCACAGGTGTCACCGAGGCCCTCCAACCTGCCCTTCCAGCCAGCAGTGGAGGACAGGCTCCCAGGCCTCCCAAGTCTCAGGCTTTTCTTCCTCTGCCCTCACTCTCTGCCTTCTACATCAAGACTTTACTTCCCCAGATTGATTGGCAGCCCTTGAAAATGTCTGCACAGAAGGCAATGAGGGCTGGAGGGAGTGAGAAGAACAGAGTGCACCATGAGCTTCAGACAGCCAGGACCAGCTGTGTAATTTTCAGGGCCCCGTCCAAAACAAAAATGCACAATCCCTTGTTCAAAAGTCATGATGAATTTTAGGACAACCACAGCAGAGCACTGAACCAGGAACCAGGACTTTCTAAGGGTTGGGTTGCCTGTGACTGCACTGGCGATACCCCCACAAAGCCCACTCTGAAGGTAGGAGACGGGTGGAGAGAAACAGGGGGATGGCAAGGGGGATACGAAACAGGGAGAGGGAGGAGGGGGAAGAGGATGGACGTCTACCAGGCCCCACTTGGTGCTTGATTTATGCCATCTCATTTCCTTCTCAAACCACCCTTTGAAGTTGATTGTACATTTTACAGAAAAGGAAACTGAGGCTCGGAGAGGAGAATCATTTACCCAAGGTCCCAGTTAGTAGACGGTAGGTGCCTGAATGTAAATCCAGGTCTCTGCCTGCTCCGGGAGGGGGTGGGGGTGAGGGAAACAGGAGAATGTGATGGGAAAATCCGAGATGGAGCCAGCCTGGGCCAGAAACACTGGGAGCTGTGGGAGACGGAGAGGGGCAGGGTGGGATCACAGGGAGCAGGAGCGGGGAATTGGAGGTGAATCTGGCCCTCCCAAACTTCCAGTCCATTCTGCTCCCAGGGGAACCGGGAAACTGCGGGGGAACTGGAAGGGAGCTCCCAGAACAAGGATCCAGAAGATTGGCATCTGGGGCCTGGGATTTAGGTTTCTAAATCGTGGGCCATGGGGCAGCCTTATCTCTGCAAAAGCATTGAGGGTAGAAGTCAATGATTTGGGAAGTTATTGAATTAGGGGATCTCGGAGGTAGGCTGTCAGTGCCTGATAGTATCAGTTAGAATGCCTGACTTGGGGTGACAATGGCTTGGAGGGGTGGGTGAGTCAAGGGTCAAATGAGTGCCCGTGAGTCATGATGCCTGCCTTGTACAATTGATAACTGAACATCGGTGAGTTAGGGCCCCAGCAGTTGTAATTAGCACCCCGGGTGTCAGCCAGAAACCAACAAACAGCCAAATCCCTGCAGCCCCGCCCAGCCTATCCACCGGCGGGGGACCGATTAACCATTAACCCCCACCCCTCCCCGGCAGAGCCTCCACCCCTTCACAGAGGCTAGGCCAAGACTCCCAGCAGATCTTCCCAGAGGACGGTTTGAAAGGAAGGCAGAGAGGGCACTGGGAGGAGGCAGTGGGAGGGCGGGGGCCTTCGGGGTGGGCGCCCAGGGTAGGGCAGGTGGCCGCGGCGTGGAGGCAGGGAGAATGCGACTCTCCAAAACCCTCGTCGACATGGACATGGCCGACTACAGTGCTGCACTGGACCCAGCCTACACCACCCTGGAATTTGAGAATGTGCAGGTGTTGACGATGGGCAATGGTAGGTGGGGGCAGATGTGCCCAGGTGTGCCAGTGGGGGCAGGTGTGCCTGGGTCCAGGAGCAGATCTTTGGCACTCAACTTTGGGGTGGGAGGAGAATGATACAAAATGGTAGGTTGGTCCTACAGGCCAGCACAGGTGTTGCCAAGTGAAGCCCATGTGCCCAGGCACAGTGATCACAGGCATTCTGGGTGAAGGGAGGCCTGCAAGGGCCAATTTCCAGCAAAAGTCGATCCCGGCTATTCCTCCCAGGCCCTTCCAGTCCTCACTGCCTCACAGTGGCTCTGCTTGGCGCTTGGCACAGTGACGTGATGGTGAGCTCCCCCTTGGTGCCCAGCTCCAGCGATTCAGCCCAGCACGGCCCCTTCGTGAACCCCTTGGGCCTAGGTTCAGAGAGACGGCAAGGGATGTTGTATCCCTGGAGATGGTGGTTGGAGACATAACCGCATTTCTCGGTGTCTTTGGGACTTTCCTAGGGAAATGAAATTGGCACTTAGGGAAAATGGAGCTCTCAGGGAAGTTTTGCTAACTACGAAGCCAACTCAGCACTGTGTGTGTTGTGTGTGCGTTCGTGTGTGATAGTGAGTTTCCATGTAGGTTGTATGGGTGGGGTGATGCCTTCAGGAACCCATTTGCATATGTGTGTTCATTTGTCTCTGTGTGTGAGTTCTGGGTCTATTTTCCTTTGTATTCATTGAGTGGGTCTGTGTTTGTGTCTTAGGAGTTGCCCGTGTTGATCTTGCTTATGTATGTAAGTGTGTATGTGTGTGTACTTGTGTCTGTGGATGTTTGTACATGTGTGCTGTGTGTGCGGGTCATAGAGCACATGCGTTTGTGCATGCGGACCTGTTGGAGTGCCCTGTTCTTCCTGCATCTTTATCCTGTATGGGCGTTTTGTCGTGTGCCCATATTTGTACCTGCTGTGTATATATGCAGTTCCCTGTGCTGCGGGCGGGGGTCAGCGGTCTCTGGTGTGCACGACTGCACAGACCCAAATGCAGGACTCTGTTGTTGCCACTCACCAAGTGAGATTCATATCAGCAACATGTCCGTTTGTCTCTGAGCAGATTTTGTTGCCGCTGCGTCTCGCCAGATTGAGGCATCCCCTCCGACATCACTGGAGCATATCTGGAGGGGTGGACAGTTCTCCACAGGGAGGTAGGGGAAAAGAGGAGGCCCGGAAACCCCTCCTGGAGGGAAGAGCCCCATCGGTCCCAGGCCAGCCTCAGAGGAGAGGGGGCAGGCAGCTGGCTGAGGTCAGCCTGCCACCCTGCTTCCTTCTGTGTCTTGGAGCCACTCAGCCAGTATGAGGCTGCAGCTCCAGCTGAGGTCTGGAATCTTGTGGTCAGCTCAGCTAGGGTGAGGAGGCAGCTGCTGGGCACTGCTTGTTGTCAGCTCAGCAGGTGCTCACCTGCCCCTGCCGTCCAGTCACGTGTGACCTTGGGCATGTCACCTCCCCTATCCTGGCTTCTGTATCTTCTACAAAACAGGCTTCATTCCCCCAGGCCTGCTGGCTGGACGGCTTTTAGGCCTGTCTGAGGACCACGCCAGGAGCGCAAGGCAAAAACACACCAGAGATAGCAAACAAGCTGCTGCTGCACTAGGTGGAGTGTTGTGTGGCCCCACGAGGACCACTGCCCTGCCCTGGGCTGCTCCCCGCCCCCATCACTTTTTCCAAGCCCAGGAACTGTGTGCTCCTGAGGCAGAGGCCAAGCCCCTGAACTGGGAGTCCCAAAGACAAGACCACCTCCAGCTCTGGAACCAGAAAGATCTGGGCTCAAATCCGGCATAGATCCTTCCAACCTGTGTGAATGTGGCAAGGCAATTTCCTCTCTGAGCCTCAGTTTCCTCACCTATANNNNNNN
benign
313,663
A mutation at chromosome position 44406107 on chromosome 20 in gene HNF4A (hepatocyte nuclear factor 4 alpha): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes']
GGGAGTCTGCGATGGCAGAAATGAGATGCGGCAGTGTCTGCTTGTGCAAGGAGCCTGGAAGTCCTCTGCTCCGAGAGTTTTCCTATGTGGAAAAGTTTTTATTTCATGAACACTGATATAGTGCTTACTATGTGCCAAGCACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGCTGTGCTGTTACCTACAGTGCATGGCCCTCTCTGGGTCTTAACTGGATGCCCCTGAGGAATCCAAGGTTGGATTCAGGATTTCTATGAATACACGTGTGTGTGTGTGTGTCTGTGTATGTGTGTATGTTTGTGCATGTGAGCATGTGTGTGTGGACTGTGTGTATGTGTATGTATATGTGTGGACTGTATGTGTGCACACATTTGTATATGTGTGTGTTGATGTGTTTGTATGTATGCATGTGTGTGGACTATGTGCAAGTGTGTGCAATGTATGTGGACTGTGTGCATGTGTGGACTGTGTGTATGTGTGTGCATGTGTGTGGAGCGTGTGTGTGCTTATGTGTGGACTCTGTGTTCATGTGTGTGTACTGTATGTGTACACATGTGTGTATATATGTGTGTGTGTGCGTGTGTCTGTGTGGTGTGTGGACTGTGTGGTGTGTGTGAACTGTGGTGTGTGTGTGCGTGACTGTGTGGTGTGTGTGCGCGTGTGTGTGACTGCTTGGTGTGTGTGAACTGTGGTGTGTGTGGTGTGTGTGTGCTTGTGTGTGGTGTGTGTGCGTGTGTGGGAACTGTGTGGTGTGTGTGGACTGTGGTGTGTAAGGTGTGTGTGTGCTTGTGTGTGGTGTGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGTGGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGCGTAGCGTGTGTGCGTGTGTGTGGACTGTGTGGCACACACGCTTGCATTTTCCCGGGGGCTGACCCATTGCATTTGTCATCTTCTTCAAAGGGGTCTATCTTTGCTGAAAGATTTGCTGACAAATAAAGGGGGTTCAGCTGCTGCTATTTTTTTAAATTTGGAAACAAATTTTTTAAATTTTTTAAATTTTTTAAATTTGGAAACAGACCAGTCAAACTGCTGCCTTTTATGGTTAGAGAAAATGAGGCCCAGAAGAAATTGAAGCAGGGAAAGCGAAGTTGCCCAAGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGGGGAATGTTTCTCCCTTCCACAGCCCCCTTGCGAGTTAGGAGGCCGGCTCCCACCCCAGAAGGTGGCCAGGTTTTCATGCCTTCCTAGAGAAAGCTGGGGCTCGTGGCCTCCACCACAGGAAGACGCAGACCCTCAGAAACAAGTCTGTGAAGTCACAACCAGCCCCAGTTTACAGATGTGAAACTGAAGCTCCAAAAAGTCAGGAGGTCACTGAGTGGGGAGGTGATGGAGTGGGAACAGCCCCCAGATCTGGCTGAGGCCGAAGCCCTGGAGAGATCCCCGCAAGGCTCCCTTAGATGCCTGACATTCTGTTCTTCCTGAAGCCTCACTCCCTTCTCTCCTGGCGCAGACACGTCCCCATCAGAAGGCACCAACCTCAACGCGCCCAACAGCCTGGGTGTCAGCGCCCTGTGTGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGTGCCTCGAGCTGTGACGGCTGCAAGGGCTTCTTCCGGAGGAGCGTGCGGAAGAACCACATGTACTCCTGCAGGTGAGGAGCCTCAATTTCTTCAGCTGGGAAATGGGCACACTTGGGCTCATGGCCCCAAGGTCTGTCTTCTCCCTGAGTGGGTAGGTCCCAGAGACAGCTGCCCTTCAGGGCCTTCAAGGCTCTTCTGGTTTTGTAAAAGACTTTGTGAATCCAAGAAGAGCATCTATTCTAGGAACCACATTTACTGATCATCAAGCTACTGGCTGCCGTTTATTGAGCTCTTATCATATGCCAGGCACAATACTAAGTCTTTGTGTGTATTTACCCATCCCCTTGAGCCCATTGTTGTTTTTCCCATTCCATGGGGCCTCTCCTGAAGCCTCAGTAGATGAGCCCGTCTTCCAGTCTGGTGCTGTTTTTGGGACAAATAGGAGATTGACCCCAGGCCGTTCCACCTACCCCAGGGGCTTCCACCAACCCCAAAGTCTTCCCAAGGCCTTGGAGAGCCCTCTTTCGAAAGCATCTCCTGTTCTGGGTAATGACAATAATAAAATCATAGCAGCTGTCAATTGCGAGCACTTGTCATGTACAAAGACTGTGCCCCATCGGCGCATGACTTCATTTCACCTGTCAACACCCCTGTGAGATGGTTACTGTTGTTATTCCCATTTTATAGAGGAGGAAGCTGTGGCTTGGAGGGCTAGGCATTTGCCCAAGGTCAACCAGCTTGAATCACTGGCAGAGCCAGGGTTAACATTCAGGGCCCCACCCATCACCACGGTGTGGCACTGCCTCTACTTCCTATCCCCCTCCAGAGAGAGGCTTATGTGAACCGAGTATTAACTCTGAGCCATAACCAGGAGCCTGCTATGGGTTCTGAGCTTTTATAGGATGTGGTGGAAATAGCAGGGCTCTGGTACTCCAGAGGTCAAGGTTCCCAACTCAGCTCTAACACCAACCAGCAGAGCGACCCAGGACCACATGTTGCCTCTCTGAGCCTCAGTTTTCCCATGTTTAGCAGGACAGGACTGGGCTCTTAGAGAGTTCATAGCACCTTTCCAGCTCCTGGTGGGTTCAAGAGAGAACTCCCGGGATGAAGAGATGAGAGCACTGAGGTTGGGGGGTCAACTGGATAGCCAGGGCCCTAGTTCTGTCCTAAGAGGAGGAAGTTGTGTCTTCTCCATCCAACCATCCAAAGCCCTCCCCAGATTTAGCCGGCAGTGCGTGGTGGACAAAGACAAGAGGAACCAGTGCCGCTACTGCAGGCTCAAGAAATGCTTCCGGGCTGGCATGAAGAAGGAAGGTGAGCCTCGGCCCTCCCCGCCCCACCACCACTGCCCCACCTGCACCCACAGCTCCCCGACAGTCATTTACAACTGTAGCCACACTTTATGACTCAGTGGCAGGCCCCAGGGTGACTGGCTAATGGCTGAGAAGAGGGAGGGCCTGGAAATCTGACCATAGGGAGCGGCTGGGCTTGGTCTTGAGAAAGATTCAGAGAGATAAGCTCCCACTCTTGGCTCCTCAGGCTCCCAGCAACCACCACCCCTGCCTGCCTGTCTGCGCCACCACAAAGCAGCCACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAATATAATATTTCGAACGTTAGGACAAGCATAGAGAATGATATTGCAAACATCTGAGTACTCACTATCCCAACTTTACAAAAGGGACAGCCAGAGGAGCCCGATGCCTGAGCTTCCGGTCCCAGGGACAAATGCCCCAGTTCCCTTAGTATTCATTCGTGGGTATCACGTGATCTCCAAAGTCTTCACATTCTAGAAAATGGGAACAAGACCCCAGACCCATCCTGGACAAAGGAGGAGAAGACCAGAGCACAACATTTATTAAGGTCTTGCCAGGCTTCCTGCTACCAGCAGGTATCAGTCACTGGGCTGTGCTTTTTCCACACTTCAGTAGGTTGGGTTCATTTCATTTTCATGACAA
GGGAGTCTGCGATGGCAGAAATGAGATGCGGCAGTGTCTGCTTGTGCAAGGAGCCTGGAAGTCCTCTGCTCCGAGAGTTTTCCTATGTGGAAAAGTTTTTATTTCATGAACACTGATATAGTGCTTACTATGTGCCAAGCACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGCTGTGCTGTTACCTACAGTGCATGGCCCTCTCTGGGTCTTAACTGGATGCCCCTGAGGAATCCAAGGTTGGATTCAGGATTTCTATGAATACACGTGTGTGTGTGTGTGTCTGTGTATGTGTGTATGTTTGTGCATGTGAGCATGTGTGTGTGGACTGTGTGTATGTGTATGTATATGTGTGGACTGTATGTGTGCACACATTTGTATATGTGTGTGTTGATGTGTTTGTATGTATGCATGTGTGTGGACTATGTGCAAGTGTGTGCAATGTATGTGGACTGTGTGCATGTGTGGACTGTGTGTATGTGTGTGCATGTGTGTGGAGCGTGTGTGTGCTTATGTGTGGACTCTGTGTTCATGTGTGTGTACTGTATGTGTACACATGTGTGTATATATGTGTGTGTGTGCGTGTGTCTGTGTGGTGTGTGGACTGTGTGGTGTGTGTGAACTGTGGTGTGTGTGTGCGTGACTGTGTGGTGTGTGTGCGCGTGTGTGTGACTGCTTGGTGTGTGTGAACTGTGGTGTGTGTGGTGTGTGTGTGCTTGTGTGTGGTGTGTGTGCGTGTGTGGGAACTGTGTGGTGTGTGTGGACTGTGGTGTGTAAGGTGTGTGTGTGCTTGTGTGTGGTGTGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGTGGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGCGTAGCGTGTGTGCGTGTGTGTGGACTGTGTGGCACACACGCTTGCATTTTCCCGGGGGCTGACCCATTGCATTTGTCATCTTCTTCAAAGGGGTCTATCTTTGCTGAAAGATTTGCTGACAAATAAAGGGGGTTCAGCTGCTGCTATTTTTTTAAATTTGGAAACAAATTTTTTAAATTTTTTAAATTTTTTAAATTTGGAAACAGACCAGTCAAACTGCTGCCTTTTATGGTTAGAGAAAATGAGGCCCAGAAGAAATTGAAGCAGGGAAAGCGAAGTTGCCCAAGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGGGGAATGTTTCTCCCTTCCACAGCCCCCTTGCGAGTTAGGAGGCCGGCTCCCACCCCAGAAGGTGGCCAGGTTTTCATGCCTTCCTAGAGAAAGCTGGGGCTCGTGGCCTCCACCACAGGAAGACGCAGACCCTCAGAAACAAGTCTGTGAAGTCACAACCAGCCCCAGTTTACAGATGTGAAACTGAAGCTCCAAAAAGTCAGGAGGTCACTGAGTGGGGAGGTGATGGAGTGGGAACAGCCCCCAGATCTGGCTGAGGCCGAAGCCCTGGAGAGATCCCCGCAAGGCTCCCTTAGATGCCTGACATTCTGTTCTTCCTGAAGCCTCACTCCCTTCTCTCCTGGCGCAGACACGTCCCCATCAGAAGGCACCAACCTCAACGCGCCCAACAGCCTGGGTTCAGCGCCCTGTGTGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGTGCCTCGAGCTGTGACGGCTGCAAGGGCTTCTTCCGGAGGAGCGTGCGGAAGAACCACATGTACTCCTGCAGGTGAGGAGCCTCAATTTCTTCAGCTGGGAAATGGGCACACTTGGGCTCATGGCCCCAAGGTCTGTCTTCTCCCTGAGTGGGTAGGTCCCAGAGACAGCTGCCCTTCAGGGCCTTCAAGGCTCTTCTGGTTTTGTAAAAGACTTTGTGAATCCAAGAAGAGCATCTATTCTAGGAACCACATTTACTGATCATCAAGCTACTGGCTGCCGTTTATTGAGCTCTTATCATATGCCAGGCACAATACTAAGTCTTTGTGTGTATTTACCCATCCCCTTGAGCCCATTGTTGTTTTTCCCATTCCATGGGGCCTCTCCTGAAGCCTCAGTAGATGAGCCCGTCTTCCAGTCTGGTGCTGTTTTTGGGACAAATAGGAGATTGACCCCAGGCCGTTCCACCTACCCCAGGGGCTTCCACCAACCCCAAAGTCTTCCCAAGGCCTTGGAGAGCCCTCTTTCGAAAGCATCTCCTGTTCTGGGTAATGACAATAATAAAATCATAGCAGCTGTCAATTGCGAGCACTTGTCATGTACAAAGACTGTGCCCCATCGGCGCATGACTTCATTTCACCTGTCAACACCCCTGTGAGATGGTTACTGTTGTTATTCCCATTTTATAGAGGAGGAAGCTGTGGCTTGGAGGGCTAGGCATTTGCCCAAGGTCAACCAGCTTGAATCACTGGCAGAGCCAGGGTTAACATTCAGGGCCCCACCCATCACCACGGTGTGGCACTGCCTCTACTTCCTATCCCCCTCCAGAGAGAGGCTTATGTGAACCGAGTATTAACTCTGAGCCATAACCAGGAGCCTGCTATGGGTTCTGAGCTTTTATAGGATGTGGTGGAAATAGCAGGGCTCTGGTACTCCAGAGGTCAAGGTTCCCAACTCAGCTCTAACACCAACCAGCAGAGCGACCCAGGACCACATGTTGCCTCTCTGAGCCTCAGTTTTCCCATGTTTAGCAGGACAGGACTGGGCTCTTAGAGAGTTCATAGCACCTTTCCAGCTCCTGGTGGGTTCAAGAGAGAACTCCCGGGATGAAGAGATGAGAGCACTGAGGTTGGGGGGTCAACTGGATAGCCAGGGCCCTAGTTCTGTCCTAAGAGGAGGAAGTTGTGTCTTCTCCATCCAACCATCCAAAGCCCTCCCCAGATTTAGCCGGCAGTGCGTGGTGGACAAAGACAAGAGGAACCAGTGCCGCTACTGCAGGCTCAAGAAATGCTTCCGGGCTGGCATGAAGAAGGAAGGTGAGCCTCGGCCCTCCCCGCCCCACCACCACTGCCCCACCTGCACCCACAGCTCCCCGACAGTCATTTACAACTGTAGCCACACTTTATGACTCAGTGGCAGGCCCCAGGGTGACTGGCTAATGGCTGAGAAGAGGGAGGGCCTGGAAATCTGACCATAGGGAGCGGCTGGGCTTGGTCTTGAGAAAGATTCAGAGAGATAAGCTCCCACTCTTGGCTCCTCAGGCTCCCAGCAACCACCACCCCTGCCTGCCTGTCTGCGCCACCACAAAGCAGCCACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAATATAATATTTCGAACGTTAGGACAAGCATAGAGAATGATATTGCAAACATCTGAGTACTCACTATCCCAACTTTACAAAAGGGACAGCCAGAGGAGCCCGATGCCTGAGCTTCCGGTCCCAGGGACAAATGCCCCAGTTCCCTTAGTATTCATTCGTGGGTATCACGTGATCTCCAAAGTCTTCACATTCTAGAAAATGGGAACAAGACCCCAGACCCATCCTGGACAAAGGAGGAGAAGACCAGAGCACAACATTTATTAAGGTCTTGCCAGGCTTCCTGCTACCAGCAGGTATCAGTCACTGGGCTGTGCTTTTTCCACACTTCAGTAGGTTGGGTTCATTTCATTTTCATGACAAN
pathogenic
313,672
Clinically, how would you classify the variant at chromosome 20, position 44406158, gene HNF4A (hepatocyte nuclear factor 4 alpha): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Monogenic_diabetes']
AGCCTGGAAGTCCTCTGCTCCGAGAGTTTTCCTATGTGGAAAAGTTTTTATTTCATGAACACTGATATAGTGCTTACTATGTGCCAAGCACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGCTGTGCTGTTACCTACAGTGCATGGCCCTCTCTGGGTCTTAACTGGATGCCCCTGAGGAATCCAAGGTTGGATTCAGGATTTCTATGAATACACGTGTGTGTGTGTGTGTCTGTGTATGTGTGTATGTTTGTGCATGTGAGCATGTGTGTGTGGACTGTGTGTATGTGTATGTATATGTGTGGACTGTATGTGTGCACACATTTGTATATGTGTGTGTTGATGTGTTTGTATGTATGCATGTGTGTGGACTATGTGCAAGTGTGTGCAATGTATGTGGACTGTGTGCATGTGTGGACTGTGTGTATGTGTGTGCATGTGTGTGGAGCGTGTGTGTGCTTATGTGTGGACTCTGTGTTCATGTGTGTGTACTGTATGTGTACACATGTGTGTATATATGTGTGTGTGTGCGTGTGTCTGTGTGGTGTGTGGACTGTGTGGTGTGTGTGAACTGTGGTGTGTGTGTGCGTGACTGTGTGGTGTGTGTGCGCGTGTGTGTGACTGCTTGGTGTGTGTGAACTGTGGTGTGTGTGGTGTGTGTGTGCTTGTGTGTGGTGTGTGTGCGTGTGTGGGAACTGTGTGGTGTGTGTGGACTGTGGTGTGTAAGGTGTGTGTGTGCTTGTGTGTGGTGTGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGTGGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGCGTAGCGTGTGTGCGTGTGTGTGGACTGTGTGGCACACACGCTTGCATTTTCCCGGGGGCTGACCCATTGCATTTGTCATCTTCTTCAAAGGGGTCTATCTTTGCTGAAAGATTTGCTGACAAATAAAGGGGGTTCAGCTGCTGCTATTTTTTTAAATTTGGAAACAAATTTTTTAAATTTTTTAAATTTTTTAAATTTGGAAACAGACCAGTCAAACTGCTGCCTTTTATGGTTAGAGAAAATGAGGCCCAGAAGAAATTGAAGCAGGGAAAGCGAAGTTGCCCAAGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGGGGAATGTTTCTCCCTTCCACAGCCCCCTTGCGAGTTAGGAGGCCGGCTCCCACCCCAGAAGGTGGCCAGGTTTTCATGCCTTCCTAGAGAAAGCTGGGGCTCGTGGCCTCCACCACAGGAAGACGCAGACCCTCAGAAACAAGTCTGTGAAGTCACAACCAGCCCCAGTTTACAGATGTGAAACTGAAGCTCCAAAAAGTCAGGAGGTCACTGAGTGGGGAGGTGATGGAGTGGGAACAGCCCCCAGATCTGGCTGAGGCCGAAGCCCTGGAGAGATCCCCGCAAGGCTCCCTTAGATGCCTGACATTCTGTTCTTCCTGAAGCCTCACTCCCTTCTCTCCTGGCGCAGACACGTCCCCATCAGAAGGCACCAACCTCAACGCGCCCAACAGCCTGGGTGTCAGCGCCCTGTGTGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGTGCCTCGAGCTGTGACGGCTGCAAGGGCTTCTTCCGGAGGAGCGTGCGGAAGAACCACATGTACTCCTGCAGGTGAGGAGCCTCAATTTCTTCAGCTGGGAAATGGGCACACTTGGGCTCATGGCCCCAAGGTCTGTCTTCTCCCTGAGTGGGTAGGTCCCAGAGACAGCTGCCCTTCAGGGCCTTCAAGGCTCTTCTGGTTTTGTAAAAGACTTTGTGAATCCAAGAAGAGCATCTATTCTAGGAACCACATTTACTGATCATCAAGCTACTGGCTGCCGTTTATTGAGCTCTTATCATATGCCAGGCACAATACTAAGTCTTTGTGTGTATTTACCCATCCCCTTGAGCCCATTGTTGTTTTTCCCATTCCATGGGGCCTCTCCTGAAGCCTCAGTAGATGAGCCCGTCTTCCAGTCTGGTGCTGTTTTTGGGACAAATAGGAGATTGACCCCAGGCCGTTCCACCTACCCCAGGGGCTTCCACCAACCCCAAAGTCTTCCCAAGGCCTTGGAGAGCCCTCTTTCGAAAGCATCTCCTGTTCTGGGTAATGACAATAATAAAATCATAGCAGCTGTCAATTGCGAGCACTTGTCATGTACAAAGACTGTGCCCCATCGGCGCATGACTTCATTTCACCTGTCAACACCCCTGTGAGATGGTTACTGTTGTTATTCCCATTTTATAGAGGAGGAAGCTGTGGCTTGGAGGGCTAGGCATTTGCCCAAGGTCAACCAGCTTGAATCACTGGCAGAGCCAGGGTTAACATTCAGGGCCCCACCCATCACCACGGTGTGGCACTGCCTCTACTTCCTATCCCCCTCCAGAGAGAGGCTTATGTGAACCGAGTATTAACTCTGAGCCATAACCAGGAGCCTGCTATGGGTTCTGAGCTTTTATAGGATGTGGTGGAAATAGCAGGGCTCTGGTACTCCAGAGGTCAAGGTTCCCAACTCAGCTCTAACACCAACCAGCAGAGCGACCCAGGACCACATGTTGCCTCTCTGAGCCTCAGTTTTCCCATGTTTAGCAGGACAGGACTGGGCTCTTAGAGAGTTCATAGCACCTTTCCAGCTCCTGGTGGGTTCAAGAGAGAACTCCCGGGATGAAGAGATGAGAGCACTGAGGTTGGGGGGTCAACTGGATAGCCAGGGCCCTAGTTCTGTCCTAAGAGGAGGAAGTTGTGTCTTCTCCATCCAACCATCCAAAGCCCTCCCCAGATTTAGCCGGCAGTGCGTGGTGGACAAAGACAAGAGGAACCAGTGCCGCTACTGCAGGCTCAAGAAATGCTTCCGGGCTGGCATGAAGAAGGAAGGTGAGCCTCGGCCCTCCCCGCCCCACCACCACTGCCCCACCTGCACCCACAGCTCCCCGACAGTCATTTACAACTGTAGCCACACTTTATGACTCAGTGGCAGGCCCCAGGGTGACTGGCTAATGGCTGAGAAGAGGGAGGGCCTGGAAATCTGACCATAGGGAGCGGCTGGGCTTGGTCTTGAGAAAGATTCAGAGAGATAAGCTCCCACTCTTGGCTCCTCAGGCTCCCAGCAACCACCACCCCTGCCTGCCTGTCTGCGCCACCACAAAGCAGCCACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAATATAATATTTCGAACGTTAGGACAAGCATAGAGAATGATATTGCAAACATCTGAGTACTCACTATCCCAACTTTACAAAAGGGACAGCCAGAGGAGCCCGATGCCTGAGCTTCCGGTCCCAGGGACAAATGCCCCAGTTCCCTTAGTATTCATTCGTGGGTATCACGTGATCTCCAAAGTCTTCACATTCTAGAAAATGGGAACAAGACCCCAGACCCATCCTGGACAAAGGAGGAGAAGACCAGAGCACAACATTTATTAAGGTCTTGCCAGGCTTCCTGCTACCAGCAGGTATCAGTCACTGGGCTGTGCTTTTTCCACACTTCAGTAGGTTGGGTTCATTTCATTTTCATGACAACCCTATATGGGAAAATGTTGTGAAAATGAAATGAGCCCAGCCCATTGAACC
AGCCTGGAAGTCCTCTGCTCCGAGAGTTTTCCTATGTGGAAAAGTTTTTATTTCATGAACACTGATATAGTGCTTACTATGTGCCAAGCACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGCTGTGCTGTTACCTACAGTGCATGGCCCTCTCTGGGTCTTAACTGGATGCCCCTGAGGAATCCAAGGTTGGATTCAGGATTTCTATGAATACACGTGTGTGTGTGTGTGTCTGTGTATGTGTGTATGTTTGTGCATGTGAGCATGTGTGTGTGGACTGTGTGTATGTGTATGTATATGTGTGGACTGTATGTGTGCACACATTTGTATATGTGTGTGTTGATGTGTTTGTATGTATGCATGTGTGTGGACTATGTGCAAGTGTGTGCAATGTATGTGGACTGTGTGCATGTGTGGACTGTGTGTATGTGTGTGCATGTGTGTGGAGCGTGTGTGTGCTTATGTGTGGACTCTGTGTTCATGTGTGTGTACTGTATGTGTACACATGTGTGTATATATGTGTGTGTGTGCGTGTGTCTGTGTGGTGTGTGGACTGTGTGGTGTGTGTGAACTGTGGTGTGTGTGTGCGTGACTGTGTGGTGTGTGTGCGCGTGTGTGTGACTGCTTGGTGTGTGTGAACTGTGGTGTGTGTGGTGTGTGTGTGCTTGTGTGTGGTGTGTGTGCGTGTGTGGGAACTGTGTGGTGTGTGTGGACTGTGGTGTGTAAGGTGTGTGTGTGCTTGTGTGTGGTGTGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGTGGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGCGTAGCGTGTGTGCGTGTGTGTGGACTGTGTGGCACACACGCTTGCATTTTCCCGGGGGCTGACCCATTGCATTTGTCATCTTCTTCAAAGGGGTCTATCTTTGCTGAAAGATTTGCTGACAAATAAAGGGGGTTCAGCTGCTGCTATTTTTTTAAATTTGGAAACAAATTTTTTAAATTTTTTAAATTTTTTAAATTTGGAAACAGACCAGTCAAACTGCTGCCTTTTATGGTTAGAGAAAATGAGGCCCAGAAGAAATTGAAGCAGGGAAAGCGAAGTTGCCCAAGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGGGGAATGTTTCTCCCTTCCACAGCCCCCTTGCGAGTTAGGAGGCCGGCTCCCACCCCAGAAGGTGGCCAGGTTTTCATGCCTTCCTAGAGAAAGCTGGGGCTCGTGGCCTCCACCACAGGAAGACGCAGACCCTCAGAAACAAGTCTGTGAAGTCACAACCAGCCCCAGTTTACAGATGTGAAACTGAAGCTCCAAAAAGTCAGGAGGTCACTGAGTGGGGAGGTGATGGAGTGGGAACAGCCCCCAGATCTGGCTGAGGCCGAAGCCCTGGAGAGATCCCCGCAAGGCTCCCTTAGATGCCTGACATTCTGTTCTTCCTGAAGCCTCACTCCCTTCTCTCCTGGCGCAGACACGTCCCCATCAGAAGGCACCAACCTCAACGCGCCCAACAGCCTGGGTGTCAGCGCCCTGTGTGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGGTGCCTCGAGCTGTGACGGCTGCAAGGGCTTCTTCCGGAGGAGCGTGCGGAAGAACCACATGTACTCCTGCAGGTGAGGAGCCTCAATTTCTTCAGCTGGGAAATGGGCACACTTGGGCTCATGGCCCCAAGGTCTGTCTTCTCCCTGAGTGGGTAGGTCCCAGAGACAGCTGCCCTTCAGGGCCTTCAAGGCTCTTCTGGTTTTGTAAAAGACTTTGTGAATCCAAGAAGAGCATCTATTCTAGGAACCACATTTACTGATCATCAAGCTACTGGCTGCCGTTTATTGAGCTCTTATCATATGCCAGGCACAATACTAAGTCTTTGTGTGTATTTACCCATCCCCTTGAGCCCATTGTTGTTTTTCCCATTCCATGGGGCCTCTCCTGAAGCCTCAGTAGATGAGCCCGTCTTCCAGTCTGGTGCTGTTTTTGGGACAAATAGGAGATTGACCCCAGGCCGTTCCACCTACCCCAGGGGCTTCCACCAACCCCAAAGTCTTCCCAAGGCCTTGGAGAGCCCTCTTTCGAAAGCATCTCCTGTTCTGGGTAATGACAATAATAAAATCATAGCAGCTGTCAATTGCGAGCACTTGTCATGTACAAAGACTGTGCCCCATCGGCGCATGACTTCATTTCACCTGTCAACACCCCTGTGAGATGGTTACTGTTGTTATTCCCATTTTATAGAGGAGGAAGCTGTGGCTTGGAGGGCTAGGCATTTGCCCAAGGTCAACCAGCTTGAATCACTGGCAGAGCCAGGGTTAACATTCAGGGCCCCACCCATCACCACGGTGTGGCACTGCCTCTACTTCCTATCCCCCTCCAGAGAGAGGCTTATGTGAACCGAGTATTAACTCTGAGCCATAACCAGGAGCCTGCTATGGGTTCTGAGCTTTTATAGGATGTGGTGGAAATAGCAGGGCTCTGGTACTCCAGAGGTCAAGGTTCCCAACTCAGCTCTAACACCAACCAGCAGAGCGACCCAGGACCACATGTTGCCTCTCTGAGCCTCAGTTTTCCCATGTTTAGCAGGACAGGACTGGGCTCTTAGAGAGTTCATAGCACCTTTCCAGCTCCTGGTGGGTTCAAGAGAGAACTCCCGGGATGAAGAGATGAGAGCACTGAGGTTGGGGGGTCAACTGGATAGCCAGGGCCCTAGTTCTGTCCTAAGAGGAGGAAGTTGTGTCTTCTCCATCCAACCATCCAAAGCCCTCCCCAGATTTAGCCGGCAGTGCGTGGTGGACAAAGACAAGAGGAACCAGTGCCGCTACTGCAGGCTCAAGAAATGCTTCCGGGCTGGCATGAAGAAGGAAGGTGAGCCTCGGCCCTCCCCGCCCCACCACCACTGCCCCACCTGCACCCACAGCTCCCCGACAGTCATTTACAACTGTAGCCACACTTTATGACTCAGTGGCAGGCCCCAGGGTGACTGGCTAATGGCTGAGAAGAGGGAGGGCCTGGAAATCTGACCATAGGGAGCGGCTGGGCTTGGTCTTGAGAAAGATTCAGAGAGATAAGCTCCCACTCTTGGCTCCTCAGGCTCCCAGCAACCACCACCCCTGCCTGCCTGTCTGCGCCACCACAAAGCAGCCACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAATATAATATTTCGAACGTTAGGACAAGCATAGAGAATGATATTGCAAACATCTGAGTACTCACTATCCCAACTTTACAAAAGGGACAGCCAGAGGAGCCCGATGCCTGAGCTTCCGGTCCCAGGGACAAATGCCCCAGTTCCCTTAGTATTCATTCGTGGGTATCACGTGATCTCCAAAGTCTTCACATTCTAGAAAATGGGAACAAGACCCCAGACCCATCCTGGACAAAGGAGGAGAAGACCAGAGCACAACATTTATTAAGGTCTTGCCAGGCTTCCTGCTACCAGCAGGTATCAGTCACTGGGCTGTGCTTTTTCCACACTTCAGTAGGTTGGGTTCATTTCATTTTCATGACAACCCTATATGGGAAAATGTTGTGAAAATGAAATGAGCCCAGCCCATTGAAC
pathogenic
313,680
The mutation in gene HNF4A (hepatocyte nuclear factor 4 alpha) at chromosome 20, position 44406191—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Monogenic_diabetes']
ATGTGGAAAAGTTTTTATTTCATGAACACTGATATAGTGCTTACTATGTGCCAAGCACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGCTGTGCTGTTACCTACAGTGCATGGCCCTCTCTGGGTCTTAACTGGATGCCCCTGAGGAATCCAAGGTTGGATTCAGGATTTCTATGAATACACGTGTGTGTGTGTGTGTCTGTGTATGTGTGTATGTTTGTGCATGTGAGCATGTGTGTGTGGACTGTGTGTATGTGTATGTATATGTGTGGACTGTATGTGTGCACACATTTGTATATGTGTGTGTTGATGTGTTTGTATGTATGCATGTGTGTGGACTATGTGCAAGTGTGTGCAATGTATGTGGACTGTGTGCATGTGTGGACTGTGTGTATGTGTGTGCATGTGTGTGGAGCGTGTGTGTGCTTATGTGTGGACTCTGTGTTCATGTGTGTGTACTGTATGTGTACACATGTGTGTATATATGTGTGTGTGTGCGTGTGTCTGTGTGGTGTGTGGACTGTGTGGTGTGTGTGAACTGTGGTGTGTGTGTGCGTGACTGTGTGGTGTGTGTGCGCGTGTGTGTGACTGCTTGGTGTGTGTGAACTGTGGTGTGTGTGGTGTGTGTGTGCTTGTGTGTGGTGTGTGTGCGTGTGTGGGAACTGTGTGGTGTGTGTGGACTGTGGTGTGTAAGGTGTGTGTGTGCTTGTGTGTGGTGTGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGTGGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGCGTAGCGTGTGTGCGTGTGTGTGGACTGTGTGGCACACACGCTTGCATTTTCCCGGGGGCTGACCCATTGCATTTGTCATCTTCTTCAAAGGGGTCTATCTTTGCTGAAAGATTTGCTGACAAATAAAGGGGGTTCAGCTGCTGCTATTTTTTTAAATTTGGAAACAAATTTTTTAAATTTTTTAAATTTTTTAAATTTGGAAACAGACCAGTCAAACTGCTGCCTTTTATGGTTAGAGAAAATGAGGCCCAGAAGAAATTGAAGCAGGGAAAGCGAAGTTGCCCAAGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGGGGAATGTTTCTCCCTTCCACAGCCCCCTTGCGAGTTAGGAGGCCGGCTCCCACCCCAGAAGGTGGCCAGGTTTTCATGCCTTCCTAGAGAAAGCTGGGGCTCGTGGCCTCCACCACAGGAAGACGCAGACCCTCAGAAACAAGTCTGTGAAGTCACAACCAGCCCCAGTTTACAGATGTGAAACTGAAGCTCCAAAAAGTCAGGAGGTCACTGAGTGGGGAGGTGATGGAGTGGGAACAGCCCCCAGATCTGGCTGAGGCCGAAGCCCTGGAGAGATCCCCGCAAGGCTCCCTTAGATGCCTGACATTCTGTTCTTCCTGAAGCCTCACTCCCTTCTCTCCTGGCGCAGACACGTCCCCATCAGAAGGCACCAACCTCAACGCGCCCAACAGCCTGGGTGTCAGCGCCCTGTGTGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGTGCCTCGAGCTGTGACGGCTGCAAGGGCTTCTTCCGGAGGAGCGTGCGGAAGAACCACATGTACTCCTGCAGGTGAGGAGCCTCAATTTCTTCAGCTGGGAAATGGGCACACTTGGGCTCATGGCCCCAAGGTCTGTCTTCTCCCTGAGTGGGTAGGTCCCAGAGACAGCTGCCCTTCAGGGCCTTCAAGGCTCTTCTGGTTTTGTAAAAGACTTTGTGAATCCAAGAAGAGCATCTATTCTAGGAACCACATTTACTGATCATCAAGCTACTGGCTGCCGTTTATTGAGCTCTTATCATATGCCAGGCACAATACTAAGTCTTTGTGTGTATTTACCCATCCCCTTGAGCCCATTGTTGTTTTTCCCATTCCATGGGGCCTCTCCTGAAGCCTCAGTAGATGAGCCCGTCTTCCAGTCTGGTGCTGTTTTTGGGACAAATAGGAGATTGACCCCAGGCCGTTCCACCTACCCCAGGGGCTTCCACCAACCCCAAAGTCTTCCCAAGGCCTTGGAGAGCCCTCTTTCGAAAGCATCTCCTGTTCTGGGTAATGACAATAATAAAATCATAGCAGCTGTCAATTGCGAGCACTTGTCATGTACAAAGACTGTGCCCCATCGGCGCATGACTTCATTTCACCTGTCAACACCCCTGTGAGATGGTTACTGTTGTTATTCCCATTTTATAGAGGAGGAAGCTGTGGCTTGGAGGGCTAGGCATTTGCCCAAGGTCAACCAGCTTGAATCACTGGCAGAGCCAGGGTTAACATTCAGGGCCCCACCCATCACCACGGTGTGGCACTGCCTCTACTTCCTATCCCCCTCCAGAGAGAGGCTTATGTGAACCGAGTATTAACTCTGAGCCATAACCAGGAGCCTGCTATGGGTTCTGAGCTTTTATAGGATGTGGTGGAAATAGCAGGGCTCTGGTACTCCAGAGGTCAAGGTTCCCAACTCAGCTCTAACACCAACCAGCAGAGCGACCCAGGACCACATGTTGCCTCTCTGAGCCTCAGTTTTCCCATGTTTAGCAGGACAGGACTGGGCTCTTAGAGAGTTCATAGCACCTTTCCAGCTCCTGGTGGGTTCAAGAGAGAACTCCCGGGATGAAGAGATGAGAGCACTGAGGTTGGGGGGTCAACTGGATAGCCAGGGCCCTAGTTCTGTCCTAAGAGGAGGAAGTTGTGTCTTCTCCATCCAACCATCCAAAGCCCTCCCCAGATTTAGCCGGCAGTGCGTGGTGGACAAAGACAAGAGGAACCAGTGCCGCTACTGCAGGCTCAAGAAATGCTTCCGGGCTGGCATGAAGAAGGAAGGTGAGCCTCGGCCCTCCCCGCCCCACCACCACTGCCCCACCTGCACCCACAGCTCCCCGACAGTCATTTACAACTGTAGCCACACTTTATGACTCAGTGGCAGGCCCCAGGGTGACTGGCTAATGGCTGAGAAGAGGGAGGGCCTGGAAATCTGACCATAGGGAGCGGCTGGGCTTGGTCTTGAGAAAGATTCAGAGAGATAAGCTCCCACTCTTGGCTCCTCAGGCTCCCAGCAACCACCACCCCTGCCTGCCTGTCTGCGCCACCACAAAGCAGCCACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAATATAATATTTCGAACGTTAGGACAAGCATAGAGAATGATATTGCAAACATCTGAGTACTCACTATCCCAACTTTACAAAAGGGACAGCCAGAGGAGCCCGATGCCTGAGCTTCCGGTCCCAGGGACAAATGCCCCAGTTCCCTTAGTATTCATTCGTGGGTATCACGTGATCTCCAAAGTCTTCACATTCTAGAAAATGGGAACAAGACCCCAGACCCATCCTGGACAAAGGAGGAGAAGACCAGAGCACAACATTTATTAAGGTCTTGCCAGGCTTCCTGCTACCAGCAGGTATCAGTCACTGGGCTGTGCTTTTTCCACACTTCAGTAGGTTGGGTTCATTTCATTTTCATGACAACCCTATATGGGAAAATGTTGTGAAAATGAAATGAGCCCAGCCCATTGAACCTATTACAATTCCTCCCTTTTTGTGGATGAAGGA
ATGTGGAAAAGTTTTTATTTCATGAACACTGATATAGTGCTTACTATGTGCCAAGCACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGCTGTGCTGTTACCTACAGTGCATGGCCCTCTCTGGGTCTTAACTGGATGCCCCTGAGGAATCCAAGGTTGGATTCAGGATTTCTATGAATACACGTGTGTGTGTGTGTGTCTGTGTATGTGTGTATGTTTGTGCATGTGAGCATGTGTGTGTGGACTGTGTGTATGTGTATGTATATGTGTGGACTGTATGTGTGCACACATTTGTATATGTGTGTGTTGATGTGTTTGTATGTATGCATGTGTGTGGACTATGTGCAAGTGTGTGCAATGTATGTGGACTGTGTGCATGTGTGGACTGTGTGTATGTGTGTGCATGTGTGTGGAGCGTGTGTGTGCTTATGTGTGGACTCTGTGTTCATGTGTGTGTACTGTATGTGTACACATGTGTGTATATATGTGTGTGTGTGCGTGTGTCTGTGTGGTGTGTGGACTGTGTGGTGTGTGTGAACTGTGGTGTGTGTGTGCGTGACTGTGTGGTGTGTGTGCGCGTGTGTGTGACTGCTTGGTGTGTGTGAACTGTGGTGTGTGTGGTGTGTGTGTGCTTGTGTGTGGTGTGTGTGCGTGTGTGGGAACTGTGTGGTGTGTGTGGACTGTGGTGTGTAAGGTGTGTGTGTGCTTGTGTGTGGTGTGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGTGGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGCGTAGCGTGTGTGCGTGTGTGTGGACTGTGTGGCACACACGCTTGCATTTTCCCGGGGGCTGACCCATTGCATTTGTCATCTTCTTCAAAGGGGTCTATCTTTGCTGAAAGATTTGCTGACAAATAAAGGGGGTTCAGCTGCTGCTATTTTTTTAAATTTGGAAACAAATTTTTTAAATTTTTTAAATTTTTTAAATTTGGAAACAGACCAGTCAAACTGCTGCCTTTTATGGTTAGAGAAAATGAGGCCCAGAAGAAATTGAAGCAGGGAAAGCGAAGTTGCCCAAGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGGGGAATGTTTCTCCCTTCCACAGCCCCCTTGCGAGTTAGGAGGCCGGCTCCCACCCCAGAAGGTGGCCAGGTTTTCATGCCTTCCTAGAGAAAGCTGGGGCTCGTGGCCTCCACCACAGGAAGACGCAGACCCTCAGAAACAAGTCTGTGAAGTCACAACCAGCCCCAGTTTACAGATGTGAAACTGAAGCTCCAAAAAGTCAGGAGGTCACTGAGTGGGGAGGTGATGGAGTGGGAACAGCCCCCAGATCTGGCTGAGGCCGAAGCCCTGGAGAGATCCCCGCAAGGCTCCCTTAGATGCCTGACATTCTGTTCTTCCTGAAGCCTCACTCCCTTCTCTCCTGGCGCAGACACGTCCCCATCAGAAGGCACCAACCTCAACGCGCCCAACAGCCTGGGTGTCAGCGCCCTGTGTGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGTGCCTCGAGCTGTGACGGCTGCAAGGGCTTCTCCGGAGGAGCGTGCGGAAGAACCACATGTACTCCTGCAGGTGAGGAGCCTCAATTTCTTCAGCTGGGAAATGGGCACACTTGGGCTCATGGCCCCAAGGTCTGTCTTCTCCCTGAGTGGGTAGGTCCCAGAGACAGCTGCCCTTCAGGGCCTTCAAGGCTCTTCTGGTTTTGTAAAAGACTTTGTGAATCCAAGAAGAGCATCTATTCTAGGAACCACATTTACTGATCATCAAGCTACTGGCTGCCGTTTATTGAGCTCTTATCATATGCCAGGCACAATACTAAGTCTTTGTGTGTATTTACCCATCCCCTTGAGCCCATTGTTGTTTTTCCCATTCCATGGGGCCTCTCCTGAAGCCTCAGTAGATGAGCCCGTCTTCCAGTCTGGTGCTGTTTTTGGGACAAATAGGAGATTGACCCCAGGCCGTTCCACCTACCCCAGGGGCTTCCACCAACCCCAAAGTCTTCCCAAGGCCTTGGAGAGCCCTCTTTCGAAAGCATCTCCTGTTCTGGGTAATGACAATAATAAAATCATAGCAGCTGTCAATTGCGAGCACTTGTCATGTACAAAGACTGTGCCCCATCGGCGCATGACTTCATTTCACCTGTCAACACCCCTGTGAGATGGTTACTGTTGTTATTCCCATTTTATAGAGGAGGAAGCTGTGGCTTGGAGGGCTAGGCATTTGCCCAAGGTCAACCAGCTTGAATCACTGGCAGAGCCAGGGTTAACATTCAGGGCCCCACCCATCACCACGGTGTGGCACTGCCTCTACTTCCTATCCCCCTCCAGAGAGAGGCTTATGTGAACCGAGTATTAACTCTGAGCCATAACCAGGAGCCTGCTATGGGTTCTGAGCTTTTATAGGATGTGGTGGAAATAGCAGGGCTCTGGTACTCCAGAGGTCAAGGTTCCCAACTCAGCTCTAACACCAACCAGCAGAGCGACCCAGGACCACATGTTGCCTCTCTGAGCCTCAGTTTTCCCATGTTTAGCAGGACAGGACTGGGCTCTTAGAGAGTTCATAGCACCTTTCCAGCTCCTGGTGGGTTCAAGAGAGAACTCCCGGGATGAAGAGATGAGAGCACTGAGGTTGGGGGGTCAACTGGATAGCCAGGGCCCTAGTTCTGTCCTAAGAGGAGGAAGTTGTGTCTTCTCCATCCAACCATCCAAAGCCCTCCCCAGATTTAGCCGGCAGTGCGTGGTGGACAAAGACAAGAGGAACCAGTGCCGCTACTGCAGGCTCAAGAAATGCTTCCGGGCTGGCATGAAGAAGGAAGGTGAGCCTCGGCCCTCCCCGCCCCACCACCACTGCCCCACCTGCACCCACAGCTCCCCGACAGTCATTTACAACTGTAGCCACACTTTATGACTCAGTGGCAGGCCCCAGGGTGACTGGCTAATGGCTGAGAAGAGGGAGGGCCTGGAAATCTGACCATAGGGAGCGGCTGGGCTTGGTCTTGAGAAAGATTCAGAGAGATAAGCTCCCACTCTTGGCTCCTCAGGCTCCCAGCAACCACCACCCCTGCCTGCCTGTCTGCGCCACCACAAAGCAGCCACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAATATAATATTTCGAACGTTAGGACAAGCATAGAGAATGATATTGCAAACATCTGAGTACTCACTATCCCAACTTTACAAAAGGGACAGCCAGAGGAGCCCGATGCCTGAGCTTCCGGTCCCAGGGACAAATGCCCCAGTTCCCTTAGTATTCATTCGTGGGTATCACGTGATCTCCAAAGTCTTCACATTCTAGAAAATGGGAACAAGACCCCAGACCCATCCTGGACAAAGGAGGAGAAGACCAGAGCACAACATTTATTAAGGTCTTGCCAGGCTTCCTGCTACCAGCAGGTATCAGTCACTGGGCTGTGCTTTTTCCACACTTCAGTAGGTTGGGTTCATTTCATTTTCATGACAACCCTATATGGGAAAATGTTGTGAAAATGAAATGAGCCCAGCCCATTGAACCTATTACAATTCCTCCCTTTTTGTGGATGAAGGAN
pathogenic
313,681
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 20, position 44406246, gene HNF4A (hepatocyte nuclear factor 4 alpha). What disease(s) is it linked to if pathogenic?
benign
CACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGCTGTGCTGTTACCTACAGTGCATGGCCCTCTCTGGGTCTTAACTGGATGCCCCTGAGGAATCCAAGGTTGGATTCAGGATTTCTATGAATACACGTGTGTGTGTGTGTGTCTGTGTATGTGTGTATGTTTGTGCATGTGAGCATGTGTGTGTGGACTGTGTGTATGTGTATGTATATGTGTGGACTGTATGTGTGCACACATTTGTATATGTGTGTGTTGATGTGTTTGTATGTATGCATGTGTGTGGACTATGTGCAAGTGTGTGCAATGTATGTGGACTGTGTGCATGTGTGGACTGTGTGTATGTGTGTGCATGTGTGTGGAGCGTGTGTGTGCTTATGTGTGGACTCTGTGTTCATGTGTGTGTACTGTATGTGTACACATGTGTGTATATATGTGTGTGTGTGCGTGTGTCTGTGTGGTGTGTGGACTGTGTGGTGTGTGTGAACTGTGGTGTGTGTGTGCGTGACTGTGTGGTGTGTGTGCGCGTGTGTGTGACTGCTTGGTGTGTGTGAACTGTGGTGTGTGTGGTGTGTGTGTGCTTGTGTGTGGTGTGTGTGCGTGTGTGGGAACTGTGTGGTGTGTGTGGACTGTGGTGTGTAAGGTGTGTGTGTGCTTGTGTGTGGTGTGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGTGGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGCGTAGCGTGTGTGCGTGTGTGTGGACTGTGTGGCACACACGCTTGCATTTTCCCGGGGGCTGACCCATTGCATTTGTCATCTTCTTCAAAGGGGTCTATCTTTGCTGAAAGATTTGCTGACAAATAAAGGGGGTTCAGCTGCTGCTATTTTTTTAAATTTGGAAACAAATTTTTTAAATTTTTTAAATTTTTTAAATTTGGAAACAGACCAGTCAAACTGCTGCCTTTTATGGTTAGAGAAAATGAGGCCCAGAAGAAATTGAAGCAGGGAAAGCGAAGTTGCCCAAGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGGGGAATGTTTCTCCCTTCCACAGCCCCCTTGCGAGTTAGGAGGCCGGCTCCCACCCCAGAAGGTGGCCAGGTTTTCATGCCTTCCTAGAGAAAGCTGGGGCTCGTGGCCTCCACCACAGGAAGACGCAGACCCTCAGAAACAAGTCTGTGAAGTCACAACCAGCCCCAGTTTACAGATGTGAAACTGAAGCTCCAAAAAGTCAGGAGGTCACTGAGTGGGGAGGTGATGGAGTGGGAACAGCCCCCAGATCTGGCTGAGGCCGAAGCCCTGGAGAGATCCCCGCAAGGCTCCCTTAGATGCCTGACATTCTGTTCTTCCTGAAGCCTCACTCCCTTCTCTCCTGGCGCAGACACGTCCCCATCAGAAGGCACCAACCTCAACGCGCCCAACAGCCTGGGTGTCAGCGCCCTGTGTGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGTGCCTCGAGCTGTGACGGCTGCAAGGGCTTCTTCCGGAGGAGCGTGCGGAAGAACCACATGTACTCCTGCAGGTGAGGAGCCTCAATTTCTTCAGCTGGGAAATGGGCACACTTGGGCTCATGGCCCCAAGGTCTGTCTTCTCCCTGAGTGGGTAGGTCCCAGAGACAGCTGCCCTTCAGGGCCTTCAAGGCTCTTCTGGTTTTGTAAAAGACTTTGTGAATCCAAGAAGAGCATCTATTCTAGGAACCACATTTACTGATCATCAAGCTACTGGCTGCCGTTTATTGAGCTCTTATCATATGCCAGGCACAATACTAAGTCTTTGTGTGTATTTACCCATCCCCTTGAGCCCATTGTTGTTTTTCCCATTCCATGGGGCCTCTCCTGAAGCCTCAGTAGATGAGCCCGTCTTCCAGTCTGGTGCTGTTTTTGGGACAAATAGGAGATTGACCCCAGGCCGTTCCACCTACCCCAGGGGCTTCCACCAACCCCAAAGTCTTCCCAAGGCCTTGGAGAGCCCTCTTTCGAAAGCATCTCCTGTTCTGGGTAATGACAATAATAAAATCATAGCAGCTGTCAATTGCGAGCACTTGTCATGTACAAAGACTGTGCCCCATCGGCGCATGACTTCATTTCACCTGTCAACACCCCTGTGAGATGGTTACTGTTGTTATTCCCATTTTATAGAGGAGGAAGCTGTGGCTTGGAGGGCTAGGCATTTGCCCAAGGTCAACCAGCTTGAATCACTGGCAGAGCCAGGGTTAACATTCAGGGCCCCACCCATCACCACGGTGTGGCACTGCCTCTACTTCCTATCCCCCTCCAGAGAGAGGCTTATGTGAACCGAGTATTAACTCTGAGCCATAACCAGGAGCCTGCTATGGGTTCTGAGCTTTTATAGGATGTGGTGGAAATAGCAGGGCTCTGGTACTCCAGAGGTCAAGGTTCCCAACTCAGCTCTAACACCAACCAGCAGAGCGACCCAGGACCACATGTTGCCTCTCTGAGCCTCAGTTTTCCCATGTTTAGCAGGACAGGACTGGGCTCTTAGAGAGTTCATAGCACCTTTCCAGCTCCTGGTGGGTTCAAGAGAGAACTCCCGGGATGAAGAGATGAGAGCACTGAGGTTGGGGGGTCAACTGGATAGCCAGGGCCCTAGTTCTGTCCTAAGAGGAGGAAGTTGTGTCTTCTCCATCCAACCATCCAAAGCCCTCCCCAGATTTAGCCGGCAGTGCGTGGTGGACAAAGACAAGAGGAACCAGTGCCGCTACTGCAGGCTCAAGAAATGCTTCCGGGCTGGCATGAAGAAGGAAGGTGAGCCTCGGCCCTCCCCGCCCCACCACCACTGCCCCACCTGCACCCACAGCTCCCCGACAGTCATTTACAACTGTAGCCACACTTTATGACTCAGTGGCAGGCCCCAGGGTGACTGGCTAATGGCTGAGAAGAGGGAGGGCCTGGAAATCTGACCATAGGGAGCGGCTGGGCTTGGTCTTGAGAAAGATTCAGAGAGATAAGCTCCCACTCTTGGCTCCTCAGGCTCCCAGCAACCACCACCCCTGCCTGCCTGTCTGCGCCACCACAAAGCAGCCACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAATATAATATTTCGAACGTTAGGACAAGCATAGAGAATGATATTGCAAACATCTGAGTACTCACTATCCCAACTTTACAAAAGGGACAGCCAGAGGAGCCCGATGCCTGAGCTTCCGGTCCCAGGGACAAATGCCCCAGTTCCCTTAGTATTCATTCGTGGGTATCACGTGATCTCCAAAGTCTTCACATTCTAGAAAATGGGAACAAGACCCCAGACCCATCCTGGACAAAGGAGGAGAAGACCAGAGCACAACATTTATTAAGGTCTTGCCAGGCTTCCTGCTACCAGCAGGTATCAGTCACTGGGCTGTGCTTTTTCCACACTTCAGTAGGTTGGGTTCATTTCATTTTCATGACAACCCTATATGGGAAAATGTTGTGAAAATGAAATGAGCCCAGCCCATTGAACCTATTACAATTCCTCCCTTTTTGTGGATGAAGGAACTGAGGCCCACAATGGTTAAGCAACTTGCCTAGGGCCCCACAACTGATCCTTGG
CACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGCTGTGCTGTTACCTACAGTGCATGGCCCTCTCTGGGTCTTAACTGGATGCCCCTGAGGAATCCAAGGTTGGATTCAGGATTTCTATGAATACACGTGTGTGTGTGTGTGTCTGTGTATGTGTGTATGTTTGTGCATGTGAGCATGTGTGTGTGGACTGTGTGTATGTGTATGTATATGTGTGGACTGTATGTGTGCACACATTTGTATATGTGTGTGTTGATGTGTTTGTATGTATGCATGTGTGTGGACTATGTGCAAGTGTGTGCAATGTATGTGGACTGTGTGCATGTGTGGACTGTGTGTATGTGTGTGCATGTGTGTGGAGCGTGTGTGTGCTTATGTGTGGACTCTGTGTTCATGTGTGTGTACTGTATGTGTACACATGTGTGTATATATGTGTGTGTGTGCGTGTGTCTGTGTGGTGTGTGGACTGTGTGGTGTGTGTGAACTGTGGTGTGTGTGTGCGTGACTGTGTGGTGTGTGTGCGCGTGTGTGTGACTGCTTGGTGTGTGTGAACTGTGGTGTGTGTGGTGTGTGTGTGCTTGTGTGTGGTGTGTGTGCGTGTGTGGGAACTGTGTGGTGTGTGTGGACTGTGGTGTGTAAGGTGTGTGTGTGCTTGTGTGTGGTGTGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGTGGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGCGTAGCGTGTGTGCGTGTGTGTGGACTGTGTGGCACACACGCTTGCATTTTCCCGGGGGCTGACCCATTGCATTTGTCATCTTCTTCAAAGGGGTCTATCTTTGCTGAAAGATTTGCTGACAAATAAAGGGGGTTCAGCTGCTGCTATTTTTTTAAATTTGGAAACAAATTTTTTAAATTTTTTAAATTTTTTAAATTTGGAAACAGACCAGTCAAACTGCTGCCTTTTATGGTTAGAGAAAATGAGGCCCAGAAGAAATTGAAGCAGGGAAAGCGAAGTTGCCCAAGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGGGGAATGTTTCTCCCTTCCACAGCCCCCTTGCGAGTTAGGAGGCCGGCTCCCACCCCAGAAGGTGGCCAGGTTTTCATGCCTTCCTAGAGAAAGCTGGGGCTCGTGGCCTCCACCACAGGAAGACGCAGACCCTCAGAAACAAGTCTGTGAAGTCACAACCAGCCCCAGTTTACAGATGTGAAACTGAAGCTCCAAAAAGTCAGGAGGTCACTGAGTGGGGAGGTGATGGAGTGGGAACAGCCCCCAGATCTGGCTGAGGCCGAAGCCCTGGAGAGATCCCCGCAAGGCTCCCTTAGATGCCTGACATTCTGTTCTTCCTGAAGCCTCACTCCCTTCTCTCCTGGCGCAGACACGTCCCCATCAGAAGGCACCAACCTCAACGCGCCCAACAGCCTGGGTGTCAGCGCCCTGTGTGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGTGCCTCGAGCTGTGACGGCTGCAAGGGCTTCTTCCGGAGGAGCGTGCGGAAGAACCACATGTACTCCTGCAGGTGAGGAGCCTCAATTTTCTTCAGCTGGGAAATGGGCACACTTGGGCTCATGGCCCCAAGGTCTGTCTTCTCCCTGAGTGGGTAGGTCCCAGAGACAGCTGCCCTTCAGGGCCTTCAAGGCTCTTCTGGTTTTGTAAAAGACTTTGTGAATCCAAGAAGAGCATCTATTCTAGGAACCACATTTACTGATCATCAAGCTACTGGCTGCCGTTTATTGAGCTCTTATCATATGCCAGGCACAATACTAAGTCTTTGTGTGTATTTACCCATCCCCTTGAGCCCATTGTTGTTTTTCCCATTCCATGGGGCCTCTCCTGAAGCCTCAGTAGATGAGCCCGTCTTCCAGTCTGGTGCTGTTTTTGGGACAAATAGGAGATTGACCCCAGGCCGTTCCACCTACCCCAGGGGCTTCCACCAACCCCAAAGTCTTCCCAAGGCCTTGGAGAGCCCTCTTTCGAAAGCATCTCCTGTTCTGGGTAATGACAATAATAAAATCATAGCAGCTGTCAATTGCGAGCACTTGTCATGTACAAAGACTGTGCCCCATCGGCGCATGACTTCATTTCACCTGTCAACACCCCTGTGAGATGGTTACTGTTGTTATTCCCATTTTATAGAGGAGGAAGCTGTGGCTTGGAGGGCTAGGCATTTGCCCAAGGTCAACCAGCTTGAATCACTGGCAGAGCCAGGGTTAACATTCAGGGCCCCACCCATCACCACGGTGTGGCACTGCCTCTACTTCCTATCCCCCTCCAGAGAGAGGCTTATGTGAACCGAGTATTAACTCTGAGCCATAACCAGGAGCCTGCTATGGGTTCTGAGCTTTTATAGGATGTGGTGGAAATAGCAGGGCTCTGGTACTCCAGAGGTCAAGGTTCCCAACTCAGCTCTAACACCAACCAGCAGAGCGACCCAGGACCACATGTTGCCTCTCTGAGCCTCAGTTTTCCCATGTTTAGCAGGACAGGACTGGGCTCTTAGAGAGTTCATAGCACCTTTCCAGCTCCTGGTGGGTTCAAGAGAGAACTCCCGGGATGAAGAGATGAGAGCACTGAGGTTGGGGGGTCAACTGGATAGCCAGGGCCCTAGTTCTGTCCTAAGAGGAGGAAGTTGTGTCTTCTCCATCCAACCATCCAAAGCCCTCCCCAGATTTAGCCGGCAGTGCGTGGTGGACAAAGACAAGAGGAACCAGTGCCGCTACTGCAGGCTCAAGAAATGCTTCCGGGCTGGCATGAAGAAGGAAGGTGAGCCTCGGCCCTCCCCGCCCCACCACCACTGCCCCACCTGCACCCACAGCTCCCCGACAGTCATTTACAACTGTAGCCACACTTTATGACTCAGTGGCAGGCCCCAGGGTGACTGGCTAATGGCTGAGAAGAGGGAGGGCCTGGAAATCTGACCATAGGGAGCGGCTGGGCTTGGTCTTGAGAAAGATTCAGAGAGATAAGCTCCCACTCTTGGCTCCTCAGGCTCCCAGCAACCACCACCCCTGCCTGCCTGTCTGCGCCACCACAAAGCAGCCACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAATATAATATTTCGAACGTTAGGACAAGCATAGAGAATGATATTGCAAACATCTGAGTACTCACTATCCCAACTTTACAAAAGGGACAGCCAGAGGAGCCCGATGCCTGAGCTTCCGGTCCCAGGGACAAATGCCCCAGTTCCCTTAGTATTCATTCGTGGGTATCACGTGATCTCCAAAGTCTTCACATTCTAGAAAATGGGAACAAGACCCCAGACCCATCCTGGACAAAGGAGGAGAAGACCAGAGCACAACATTTATTAAGGTCTTGCCAGGCTTCCTGCTACCAGCAGGTATCAGTCACTGGGCTGTGCTTTTTCCACACTTCAGTAGGTTGGGTTCATTTCATTTTCATGACAACCCTATATGGGAAAATGTTGTGAAAATGAAATGAGCCCAGCCCATTGAACCTATTACAATTCCTCCCTTTTTGTGGATGAAGGAACTGAGGCCCACAATGGTTAAGCAACTTGCCTAGGGCCCCACAACTGATCCTTG
benign
313,690
A genetic alteration at chromosome 20, position 44407411, in gene HNF4A (hepatocyte nuclear factor 4 alpha)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Monogenic_diabetes']
TGAAGCAGGGAAAGCGAAGTTGCCCAAGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGGGGAATGTTTCTCCCTTCCACAGCCCCCTTGCGAGTTAGGAGGCCGGCTCCCACCCCAGAAGGTGGCCAGGTTTTCATGCCTTCCTAGAGAAAGCTGGGGCTCGTGGCCTCCACCACAGGAAGACGCAGACCCTCAGAAACAAGTCTGTGAAGTCACAACCAGCCCCAGTTTACAGATGTGAAACTGAAGCTCCAAAAAGTCAGGAGGTCACTGAGTGGGGAGGTGATGGAGTGGGAACAGCCCCCAGATCTGGCTGAGGCCGAAGCCCTGGAGAGATCCCCGCAAGGCTCCCTTAGATGCCTGACATTCTGTTCTTCCTGAAGCCTCACTCCCTTCTCTCCTGGCGCAGACACGTCCCCATCAGAAGGCACCAACCTCAACGCGCCCAACAGCCTGGGTGTCAGCGCCCTGTGTGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGTGCCTCGAGCTGTGACGGCTGCAAGGGCTTCTTCCGGAGGAGCGTGCGGAAGAACCACATGTACTCCTGCAGGTGAGGAGCCTCAATTTCTTCAGCTGGGAAATGGGCACACTTGGGCTCATGGCCCCAAGGTCTGTCTTCTCCCTGAGTGGGTAGGTCCCAGAGACAGCTGCCCTTCAGGGCCTTCAAGGCTCTTCTGGTTTTGTAAAAGACTTTGTGAATCCAAGAAGAGCATCTATTCTAGGAACCACATTTACTGATCATCAAGCTACTGGCTGCCGTTTATTGAGCTCTTATCATATGCCAGGCACAATACTAAGTCTTTGTGTGTATTTACCCATCCCCTTGAGCCCATTGTTGTTTTTCCCATTCCATGGGGCCTCTCCTGAAGCCTCAGTAGATGAGCCCGTCTTCCAGTCTGGTGCTGTTTTTGGGACAAATAGGAGATTGACCCCAGGCCGTTCCACCTACCCCAGGGGCTTCCACCAACCCCAAAGTCTTCCCAAGGCCTTGGAGAGCCCTCTTTCGAAAGCATCTCCTGTTCTGGGTAATGACAATAATAAAATCATAGCAGCTGTCAATTGCGAGCACTTGTCATGTACAAAGACTGTGCCCCATCGGCGCATGACTTCATTTCACCTGTCAACACCCCTGTGAGATGGTTACTGTTGTTATTCCCATTTTATAGAGGAGGAAGCTGTGGCTTGGAGGGCTAGGCATTTGCCCAAGGTCAACCAGCTTGAATCACTGGCAGAGCCAGGGTTAACATTCAGGGCCCCACCCATCACCACGGTGTGGCACTGCCTCTACTTCCTATCCCCCTCCAGAGAGAGGCTTATGTGAACCGAGTATTAACTCTGAGCCATAACCAGGAGCCTGCTATGGGTTCTGAGCTTTTATAGGATGTGGTGGAAATAGCAGGGCTCTGGTACTCCAGAGGTCAAGGTTCCCAACTCAGCTCTAACACCAACCAGCAGAGCGACCCAGGACCACATGTTGCCTCTCTGAGCCTCAGTTTTCCCATGTTTAGCAGGACAGGACTGGGCTCTTAGAGAGTTCATAGCACCTTTCCAGCTCCTGGTGGGTTCAAGAGAGAACTCCCGGGATGAAGAGATGAGAGCACTGAGGTTGGGGGGTCAACTGGATAGCCAGGGCCCTAGTTCTGTCCTAAGAGGAGGAAGTTGTGTCTTCTCCATCCAACCATCCAAAGCCCTCCCCAGATTTAGCCGGCAGTGCGTGGTGGACAAAGACAAGAGGAACCAGTGCCGCTACTGCAGGCTCAAGAAATGCTTCCGGGCTGGCATGAAGAAGGAAGGTGAGCCTCGGCCCTCCCCGCCCCACCACCACTGCCCCACCTGCACCCACAGCTCCCCGACAGTCATTTACAACTGTAGCCACACTTTATGACTCAGTGGCAGGCCCCAGGGTGACTGGCTAATGGCTGAGAAGAGGGAGGGCCTGGAAATCTGACCATAGGGAGCGGCTGGGCTTGGTCTTGAGAAAGATTCAGAGAGATAAGCTCCCACTCTTGGCTCCTCAGGCTCCCAGCAACCACCACCCCTGCCTGCCTGTCTGCGCCACCACAAAGCAGCCACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAATATAATATTTCGAACGTTAGGACAAGCATAGAGAATGATATTGCAAACATCTGAGTACTCACTATCCCAACTTTACAAAAGGGACAGCCAGAGGAGCCCGATGCCTGAGCTTCCGGTCCCAGGGACAAATGCCCCAGTTCCCTTAGTATTCATTCGTGGGTATCACGTGATCTCCAAAGTCTTCACATTCTAGAAAATGGGAACAAGACCCCAGACCCATCCTGGACAAAGGAGGAGAAGACCAGAGCACAACATTTATTAAGGTCTTGCCAGGCTTCCTGCTACCAGCAGGTATCAGTCACTGGGCTGTGCTTTTTCCACACTTCAGTAGGTTGGGTTCATTTCATTTTCATGACAACCCTATATGGGAAAATGTTGTGAAAATGAAATGAGCCCAGCCCATTGAACCTATTACAATTCCTCCCTTTTTGTGGATGAAGGAACTGAGGCCCACAATGGTTAAGCAACTTGCCTAGGGCCCCACAACTGATCCTTGGAAGATCTGAAGTCCCAGAGCTTCTGCTATTTGGACCACACTTCAGCACTGTCTATTATTTTATGCTCTCCAGATACCAGGGACATTTAAAATTGTTTTCAGCCCAAGCAAGGGAAGCAAAAATCTTTTAACTGCTTTAAAGTAACTTGAGGCCAGGCGCAGTGAATCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAAATCATTTGAGGTCAAGAGTTCGAGACCATCCTGACCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCTAGCTACTCGGAAGGCTGAGGCAGGAGAATTGCTTGAACCCAAGAGGAGGCGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGACTGGGCAAGACAGCGAGACTCTCTCAAAAAAAATAAAAAAGTAACGAGTTCATTTTCGAATCTCTTCATTTCCTGCTCCTCTAAACTCAACCTTTCCCAGCTCTGCGACTAGTCCCAGACCTTCCCTTCTAGCCCACAGTTGTGCCGTACCAGCCAAACCTTGGTCTAGTCCTGCTAGTTCGGTACAAACACCCCTCACCCCCATCACCCCAGCACACCCCAGAAGCAGGAACGTAGGACCCAGCTTGCTCCAGGGCCCACTGAGAAGGAGGGGAGGGGAGGCTTTGGTAGACTCTCTTTCCCCTGTATCTGCTCCTGGCCCCCTGTTTTCTCTGCCCCCTCCCTTGGAAATATCTTCTATGTCTCATCCTTATGGGACCTTAGTCTGGGCTCATGAGCTGTCTTGGAAAATCTGGGCTTGCTGATCCCGATGCAGGAGTGGGTGGTCCCCAAGGCCTGCTCTGAACGCTGCAATTCTAACATCTAGATATCAGTGGTTCTCCAAGGGCAAGAGGGGCTTTTTAAGCTGCAAATACTCCCTCCTCTCCCAAACCCAGTTTTCAATGGGGTTAAGCCTGTCTCATCCACTTCAACTTCCATTTTGTGGACTGGGAAAGATTATGAATGGGAACCTGATGCATGTGTGAACAGTTGGAGGCAAGAAAAAGATTGAGAACTACAGTCTAAGGTTCCAACATTTCTGTGGTTGTATTAGTCAGTGATTCCATTATCCCAAAAGCCTAAGATTTTAGGCACTAT
TGAAGCAGGGAAAGCGAAGTTGCCCAAGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGGGGAATGTTTCTCCCTTCCACAGCCCCCTTGCGAGTTAGGAGGCCGGCTCCCACCCCAGAAGGTGGCCAGGTTTTCATGCCTTCCTAGAGAAAGCTGGGGCTCGTGGCCTCCACCACAGGAAGACGCAGACCCTCAGAAACAAGTCTGTGAAGTCACAACCAGCCCCAGTTTACAGATGTGAAACTGAAGCTCCAAAAAGTCAGGAGGTCACTGAGTGGGGAGGTGATGGAGTGGGAACAGCCCCCAGATCTGGCTGAGGCCGAAGCCCTGGAGAGATCCCCGCAAGGCTCCCTTAGATGCCTGACATTCTGTTCTTCCTGAAGCCTCACTCCCTTCTCTCCTGGCGCAGACACGTCCCCATCAGAAGGCACCAACCTCAACGCGCCCAACAGCCTGGGTGTCAGCGCCCTGTGTGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGTGCCTCGAGCTGTGACGGCTGCAAGGGCTTCTTCCGGAGGAGCGTGCGGAAGAACCACATGTACTCCTGCAGGTGAGGAGCCTCAATTTCTTCAGCTGGGAAATGGGCACACTTGGGCTCATGGCCCCAAGGTCTGTCTTCTCCCTGAGTGGGTAGGTCCCAGAGACAGCTGCCCTTCAGGGCCTTCAAGGCTCTTCTGGTTTTGTAAAAGACTTTGTGAATCCAAGAAGAGCATCTATTCTAGGAACCACATTTACTGATCATCAAGCTACTGGCTGCCGTTTATTGAGCTCTTATCATATGCCAGGCACAATACTAAGTCTTTGTGTGTATTTACCCATCCCCTTGAGCCCATTGTTGTTTTTCCCATTCCATGGGGCCTCTCCTGAAGCCTCAGTAGATGAGCCCGTCTTCCAGTCTGGTGCTGTTTTTGGGACAAATAGGAGATTGACCCCAGGCCGTTCCACCTACCCCAGGGGCTTCCACCAACCCCAAAGTCTTCCCAAGGCCTTGGAGAGCCCTCTTTCGAAAGCATCTCCTGTTCTGGGTAATGACAATAATAAAATCATAGCAGCTGTCAATTGCGAGCACTTGTCATGTACAAAGACTGTGCCCCATCGGCGCATGACTTCATTTCACCTGTCAACACCCCTGTGAGATGGTTACTGTTGTTATTCCCATTTTATAGAGGAGGAAGCTGTGGCTTGGAGGGCTAGGCATTTGCCCAAGGTCAACCAGCTTGAATCACTGGCAGAGCCAGGGTTAACATTCAGGGCCCCACCCATCACCACGGTGTGGCACTGCCTCTACTTCCTATCCCCCTCCAGAGAGAGGCTTATGTGAACCGAGTATTAACTCTGAGCCATAACCAGGAGCCTGCTATGGGTTCTGAGCTTTTATAGGATGTGGTGGAAATAGCAGGGCTCTGGTACTCCAGAGGTCAAGGTTCCCAACTCAGCTCTAACACCAACCAGCAGAGCGACCCAGGACCACATGTTGCCTCTCTGAGCCTCAGTTTTCCCATGTTTAGCAGGACAGGACTGGGCTCTTAGAGAGTTCATAGCACCTTTCCAGCTCCTGGTGGGTTCAAGAGAGAACTCCCGGGATGAAGAGATGAGAGCACTGAGGTTGGGGGGTCAACTGGATAGCCAGGGCCCTAGTTCTGTCCTAAGAGGAGGAAGTTGTGTCTTCTCCATCCAACCATCCAAAGCCCTCCCCAGATTTAGCCGGCAGTGCGTGGTGGACAAAGACGAGGAACCAGTGCCGCTACTGCAGGCTCAAGAAATGCTTCCGGGCTGGCATGAAGAAGGAAGGTGAGCCTCGGCCCTCCCCGCCCCACCACCACTGCCCCACCTGCACCCACAGCTCCCCGACAGTCATTTACAACTGTAGCCACACTTTATGACTCAGTGGCAGGCCCCAGGGTGACTGGCTAATGGCTGAGAAGAGGGAGGGCCTGGAAATCTGACCATAGGGAGCGGCTGGGCTTGGTCTTGAGAAAGATTCAGAGAGATAAGCTCCCACTCTTGGCTCCTCAGGCTCCCAGCAACCACCACCCCTGCCTGCCTGTCTGCGCCACCACAAAGCAGCCACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAATATAATATTTCGAACGTTAGGACAAGCATAGAGAATGATATTGCAAACATCTGAGTACTCACTATCCCAACTTTACAAAAGGGACAGCCAGAGGAGCCCGATGCCTGAGCTTCCGGTCCCAGGGACAAATGCCCCAGTTCCCTTAGTATTCATTCGTGGGTATCACGTGATCTCCAAAGTCTTCACATTCTAGAAAATGGGAACAAGACCCCAGACCCATCCTGGACAAAGGAGGAGAAGACCAGAGCACAACATTTATTAAGGTCTTGCCAGGCTTCCTGCTACCAGCAGGTATCAGTCACTGGGCTGTGCTTTTTCCACACTTCAGTAGGTTGGGTTCATTTCATTTTCATGACAACCCTATATGGGAAAATGTTGTGAAAATGAAATGAGCCCAGCCCATTGAACCTATTACAATTCCTCCCTTTTTGTGGATGAAGGAACTGAGGCCCACAATGGTTAAGCAACTTGCCTAGGGCCCCACAACTGATCCTTGGAAGATCTGAAGTCCCAGAGCTTCTGCTATTTGGACCACACTTCAGCACTGTCTATTATTTTATGCTCTCCAGATACCAGGGACATTTAAAATTGTTTTCAGCCCAAGCAAGGGAAGCAAAAATCTTTTAACTGCTTTAAAGTAACTTGAGGCCAGGCGCAGTGAATCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAAATCATTTGAGGTCAAGAGTTCGAGACCATCCTGACCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCTAGCTACTCGGAAGGCTGAGGCAGGAGAATTGCTTGAACCCAAGAGGAGGCGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGACTGGGCAAGACAGCGAGACTCTCTCAAAAAAAATAAAAAAGTAACGAGTTCATTTTCGAATCTCTTCATTTCCTGCTCCTCTAAACTCAACCTTTCCCAGCTCTGCGACTAGTCCCAGACCTTCCCTTCTAGCCCACAGTTGTGCCGTACCAGCCAAACCTTGGTCTAGTCCTGCTAGTTCGGTACAAACACCCCTCACCCCCATCACCCCAGCACACCCCAGAAGCAGGAACGTAGGACCCAGCTTGCTCCAGGGCCCACTGAGAAGGAGGGGAGGGGAGGCTTTGGTAGACTCTCTTTCCCCTGTATCTGCTCCTGGCCCCCTGTTTTCTCTGCCCCCTCCCTTGGAAATATCTTCTATGTCTCATCCTTATGGGACCTTAGTCTGGGCTCATGAGCTGTCTTGGAAAATCTGGGCTTGCTGATCCCGATGCAGGAGTGGGTGGTCCCCAAGGCCTGCTCTGAACGCTGCAATTCTAACATCTAGATATCAGTGGTTCTCCAAGGGCAAGAGGGGCTTTTTAAGCTGCAAATACTCCCTCCTCTCCCAAACCCAGTTTTCAATGGGGTTAAGCCTGTCTCATCCACTTCAACTTCCATTTTGTGGACTGGGAAAGATTATGAATGGGAACCTGATGCATGTGTGAACAGTTGGAGGCAAGAAAAAGATTGAGAACTACAGTCTAAGGTTCCAACATTTCTGTGGTTGTATTAGTCAGTGATTCCATTATCCCAAAAGCCTAAGATTTTAGGCACTATNN
pathogenic
313,697
Variant at chromosome 20, position 44407437, gene HNF4A (hepatocyte nuclear factor 4 alpha): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
pathogenic; ['Maturity-onset_diabetes_of_the_young_type_1', 'Monogenic_diabetes']
AGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGGGGAATGTTTCTCCCTTCCACAGCCCCCTTGCGAGTTAGGAGGCCGGCTCCCACCCCAGAAGGTGGCCAGGTTTTCATGCCTTCCTAGAGAAAGCTGGGGCTCGTGGCCTCCACCACAGGAAGACGCAGACCCTCAGAAACAAGTCTGTGAAGTCACAACCAGCCCCAGTTTACAGATGTGAAACTGAAGCTCCAAAAAGTCAGGAGGTCACTGAGTGGGGAGGTGATGGAGTGGGAACAGCCCCCAGATCTGGCTGAGGCCGAAGCCCTGGAGAGATCCCCGCAAGGCTCCCTTAGATGCCTGACATTCTGTTCTTCCTGAAGCCTCACTCCCTTCTCTCCTGGCGCAGACACGTCCCCATCAGAAGGCACCAACCTCAACGCGCCCAACAGCCTGGGTGTCAGCGCCCTGTGTGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGTGCCTCGAGCTGTGACGGCTGCAAGGGCTTCTTCCGGAGGAGCGTGCGGAAGAACCACATGTACTCCTGCAGGTGAGGAGCCTCAATTTCTTCAGCTGGGAAATGGGCACACTTGGGCTCATGGCCCCAAGGTCTGTCTTCTCCCTGAGTGGGTAGGTCCCAGAGACAGCTGCCCTTCAGGGCCTTCAAGGCTCTTCTGGTTTTGTAAAAGACTTTGTGAATCCAAGAAGAGCATCTATTCTAGGAACCACATTTACTGATCATCAAGCTACTGGCTGCCGTTTATTGAGCTCTTATCATATGCCAGGCACAATACTAAGTCTTTGTGTGTATTTACCCATCCCCTTGAGCCCATTGTTGTTTTTCCCATTCCATGGGGCCTCTCCTGAAGCCTCAGTAGATGAGCCCGTCTTCCAGTCTGGTGCTGTTTTTGGGACAAATAGGAGATTGACCCCAGGCCGTTCCACCTACCCCAGGGGCTTCCACCAACCCCAAAGTCTTCCCAAGGCCTTGGAGAGCCCTCTTTCGAAAGCATCTCCTGTTCTGGGTAATGACAATAATAAAATCATAGCAGCTGTCAATTGCGAGCACTTGTCATGTACAAAGACTGTGCCCCATCGGCGCATGACTTCATTTCACCTGTCAACACCCCTGTGAGATGGTTACTGTTGTTATTCCCATTTTATAGAGGAGGAAGCTGTGGCTTGGAGGGCTAGGCATTTGCCCAAGGTCAACCAGCTTGAATCACTGGCAGAGCCAGGGTTAACATTCAGGGCCCCACCCATCACCACGGTGTGGCACTGCCTCTACTTCCTATCCCCCTCCAGAGAGAGGCTTATGTGAACCGAGTATTAACTCTGAGCCATAACCAGGAGCCTGCTATGGGTTCTGAGCTTTTATAGGATGTGGTGGAAATAGCAGGGCTCTGGTACTCCAGAGGTCAAGGTTCCCAACTCAGCTCTAACACCAACCAGCAGAGCGACCCAGGACCACATGTTGCCTCTCTGAGCCTCAGTTTTCCCATGTTTAGCAGGACAGGACTGGGCTCTTAGAGAGTTCATAGCACCTTTCCAGCTCCTGGTGGGTTCAAGAGAGAACTCCCGGGATGAAGAGATGAGAGCACTGAGGTTGGGGGGTCAACTGGATAGCCAGGGCCCTAGTTCTGTCCTAAGAGGAGGAAGTTGTGTCTTCTCCATCCAACCATCCAAAGCCCTCCCCAGATTTAGCCGGCAGTGCGTGGTGGACAAAGACAAGAGGAACCAGTGCCGCTACTGCAGGCTCAAGAAATGCTTCCGGGCTGGCATGAAGAAGGAAGGTGAGCCTCGGCCCTCCCCGCCCCACCACCACTGCCCCACCTGCACCCACAGCTCCCCGACAGTCATTTACAACTGTAGCCACACTTTATGACTCAGTGGCAGGCCCCAGGGTGACTGGCTAATGGCTGAGAAGAGGGAGGGCCTGGAAATCTGACCATAGGGAGCGGCTGGGCTTGGTCTTGAGAAAGATTCAGAGAGATAAGCTCCCACTCTTGGCTCCTCAGGCTCCCAGCAACCACCACCCCTGCCTGCCTGTCTGCGCCACCACAAAGCAGCCACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAATATAATATTTCGAACGTTAGGACAAGCATAGAGAATGATATTGCAAACATCTGAGTACTCACTATCCCAACTTTACAAAAGGGACAGCCAGAGGAGCCCGATGCCTGAGCTTCCGGTCCCAGGGACAAATGCCCCAGTTCCCTTAGTATTCATTCGTGGGTATCACGTGATCTCCAAAGTCTTCACATTCTAGAAAATGGGAACAAGACCCCAGACCCATCCTGGACAAAGGAGGAGAAGACCAGAGCACAACATTTATTAAGGTCTTGCCAGGCTTCCTGCTACCAGCAGGTATCAGTCACTGGGCTGTGCTTTTTCCACACTTCAGTAGGTTGGGTTCATTTCATTTTCATGACAACCCTATATGGGAAAATGTTGTGAAAATGAAATGAGCCCAGCCCATTGAACCTATTACAATTCCTCCCTTTTTGTGGATGAAGGAACTGAGGCCCACAATGGTTAAGCAACTTGCCTAGGGCCCCACAACTGATCCTTGGAAGATCTGAAGTCCCAGAGCTTCTGCTATTTGGACCACACTTCAGCACTGTCTATTATTTTATGCTCTCCAGATACCAGGGACATTTAAAATTGTTTTCAGCCCAAGCAAGGGAAGCAAAAATCTTTTAACTGCTTTAAAGTAACTTGAGGCCAGGCGCAGTGAATCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAAATCATTTGAGGTCAAGAGTTCGAGACCATCCTGACCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCTAGCTACTCGGAAGGCTGAGGCAGGAGAATTGCTTGAACCCAAGAGGAGGCGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGACTGGGCAAGACAGCGAGACTCTCTCAAAAAAAATAAAAAAGTAACGAGTTCATTTTCGAATCTCTTCATTTCCTGCTCCTCTAAACTCAACCTTTCCCAGCTCTGCGACTAGTCCCAGACCTTCCCTTCTAGCCCACAGTTGTGCCGTACCAGCCAAACCTTGGTCTAGTCCTGCTAGTTCGGTACAAACACCCCTCACCCCCATCACCCCAGCACACCCCAGAAGCAGGAACGTAGGACCCAGCTTGCTCCAGGGCCCACTGAGAAGGAGGGGAGGGGAGGCTTTGGTAGACTCTCTTTCCCCTGTATCTGCTCCTGGCCCCCTGTTTTCTCTGCCCCCTCCCTTGGAAATATCTTCTATGTCTCATCCTTATGGGACCTTAGTCTGGGCTCATGAGCTGTCTTGGAAAATCTGGGCTTGCTGATCCCGATGCAGGAGTGGGTGGTCCCCAAGGCCTGCTCTGAACGCTGCAATTCTAACATCTAGATATCAGTGGTTCTCCAAGGGCAAGAGGGGCTTTTTAAGCTGCAAATACTCCCTCCTCTCCCAAACCCAGTTTTCAATGGGGTTAAGCCTGTCTCATCCACTTCAACTTCCATTTTGTGGACTGGGAAAGATTATGAATGGGAACCTGATGCATGTGTGAACAGTTGGAGGCAAGAAAAAGATTGAGAACTACAGTCTAAGGTTCCAACATTTCTGTGGTTGTATTAGTCAGTGATTCCATTATCCCAAAAGCCTAAGATTTTAGGCACTATGATTCCTCATAGGTGTCATCCAGAGG
AGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGGGGAATGTTTCTCCCTTCCACAGCCCCCTTGCGAGTTAGGAGGCCGGCTCCCACCCCAGAAGGTGGCCAGGTTTTCATGCCTTCCTAGAGAAAGCTGGGGCTCGTGGCCTCCACCACAGGAAGACGCAGACCCTCAGAAACAAGTCTGTGAAGTCACAACCAGCCCCAGTTTACAGATGTGAAACTGAAGCTCCAAAAAGTCAGGAGGTCACTGAGTGGGGAGGTGATGGAGTGGGAACAGCCCCCAGATCTGGCTGAGGCCGAAGCCCTGGAGAGATCCCCGCAAGGCTCCCTTAGATGCCTGACATTCTGTTCTTCCTGAAGCCTCACTCCCTTCTCTCCTGGCGCAGACACGTCCCCATCAGAAGGCACCAACCTCAACGCGCCCAACAGCCTGGGTGTCAGCGCCCTGTGTGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGTGCCTCGAGCTGTGACGGCTGCAAGGGCTTCTTCCGGAGGAGCGTGCGGAAGAACCACATGTACTCCTGCAGGTGAGGAGCCTCAATTTCTTCAGCTGGGAAATGGGCACACTTGGGCTCATGGCCCCAAGGTCTGTCTTCTCCCTGAGTGGGTAGGTCCCAGAGACAGCTGCCCTTCAGGGCCTTCAAGGCTCTTCTGGTTTTGTAAAAGACTTTGTGAATCCAAGAAGAGCATCTATTCTAGGAACCACATTTACTGATCATCAAGCTACTGGCTGCCGTTTATTGAGCTCTTATCATATGCCAGGCACAATACTAAGTCTTTGTGTGTATTTACCCATCCCCTTGAGCCCATTGTTGTTTTTCCCATTCCATGGGGCCTCTCCTGAAGCCTCAGTAGATGAGCCCGTCTTCCAGTCTGGTGCTGTTTTTGGGACAAATAGGAGATTGACCCCAGGCCGTTCCACCTACCCCAGGGGCTTCCACCAACCCCAAAGTCTTCCCAAGGCCTTGGAGAGCCCTCTTTCGAAAGCATCTCCTGTTCTGGGTAATGACAATAATAAAATCATAGCAGCTGTCAATTGCGAGCACTTGTCATGTACAAAGACTGTGCCCCATCGGCGCATGACTTCATTTCACCTGTCAACACCCCTGTGAGATGGTTACTGTTGTTATTCCCATTTTATAGAGGAGGAAGCTGTGGCTTGGAGGGCTAGGCATTTGCCCAAGGTCAACCAGCTTGAATCACTGGCAGAGCCAGGGTTAACATTCAGGGCCCCACCCATCACCACGGTGTGGCACTGCCTCTACTTCCTATCCCCCTCCAGAGAGAGGCTTATGTGAACCGAGTATTAACTCTGAGCCATAACCAGGAGCCTGCTATGGGTTCTGAGCTTTTATAGGATGTGGTGGAAATAGCAGGGCTCTGGTACTCCAGAGGTCAAGGTTCCCAACTCAGCTCTAACACCAACCAGCAGAGCGACCCAGGACCACATGTTGCCTCTCTGAGCCTCAGTTTTCCCATGTTTAGCAGGACAGGACTGGGCTCTTAGAGAGTTCATAGCACCTTTCCAGCTCCTGGTGGGTTCAAGAGAGAACTCCCGGGATGAAGAGATGAGAGCACTGAGGTTGGGGGGTCAACTGGATAGCCAGGGCCCTAGTTCTGTCCTAAGAGGAGGAAGTTGTGTCTTCTCCATCCAACCATCCAAAGCCCTCCCCAGATTTAGCCGGCAGTGCGTGGTGGACAAAGACAAGAGGAACCAGTGCCGCTACTGCACCTCAAGAAATGCTTCCGGGCTGGCATGAAGAAGGAAGGTGAGCCTCGGCCCTCCCCGCCCCACCACCACTGCCCCACCTGCACCCACAGCTCCCCGACAGTCATTTACAACTGTAGCCACACTTTATGACTCAGTGGCAGGCCCCAGGGTGACTGGCTAATGGCTGAGAAGAGGGAGGGCCTGGAAATCTGACCATAGGGAGCGGCTGGGCTTGGTCTTGAGAAAGATTCAGAGAGATAAGCTCCCACTCTTGGCTCCTCAGGCTCCCAGCAACCACCACCCCTGCCTGCCTGTCTGCGCCACCACAAAGCAGCCACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAATATAATATTTCGAACGTTAGGACAAGCATAGAGAATGATATTGCAAACATCTGAGTACTCACTATCCCAACTTTACAAAAGGGACAGCCAGAGGAGCCCGATGCCTGAGCTTCCGGTCCCAGGGACAAATGCCCCAGTTCCCTTAGTATTCATTCGTGGGTATCACGTGATCTCCAAAGTCTTCACATTCTAGAAAATGGGAACAAGACCCCAGACCCATCCTGGACAAAGGAGGAGAAGACCAGAGCACAACATTTATTAAGGTCTTGCCAGGCTTCCTGCTACCAGCAGGTATCAGTCACTGGGCTGTGCTTTTTCCACACTTCAGTAGGTTGGGTTCATTTCATTTTCATGACAACCCTATATGGGAAAATGTTGTGAAAATGAAATGAGCCCAGCCCATTGAACCTATTACAATTCCTCCCTTTTTGTGGATGAAGGAACTGAGGCCCACAATGGTTAAGCAACTTGCCTAGGGCCCCACAACTGATCCTTGGAAGATCTGAAGTCCCAGAGCTTCTGCTATTTGGACCACACTTCAGCACTGTCTATTATTTTATGCTCTCCAGATACCAGGGACATTTAAAATTGTTTTCAGCCCAAGCAAGGGAAGCAAAAATCTTTTAACTGCTTTAAAGTAACTTGAGGCCAGGCGCAGTGAATCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAAATCATTTGAGGTCAAGAGTTCGAGACCATCCTGACCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCTAGCTACTCGGAAGGCTGAGGCAGGAGAATTGCTTGAACCCAAGAGGAGGCGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGACTGGGCAAGACAGCGAGACTCTCTCAAAAAAAATAAAAAAGTAACGAGTTCATTTTCGAATCTCTTCATTTCCTGCTCCTCTAAACTCAACCTTTCCCAGCTCTGCGACTAGTCCCAGACCTTCCCTTCTAGCCCACAGTTGTGCCGTACCAGCCAAACCTTGGTCTAGTCCTGCTAGTTCGGTACAAACACCCCTCACCCCCATCACCCCAGCACACCCCAGAAGCAGGAACGTAGGACCCAGCTTGCTCCAGGGCCCACTGAGAAGGAGGGGAGGGGAGGCTTTGGTAGACTCTCTTTCCCCTGTATCTGCTCCTGGCCCCCTGTTTTCTCTGCCCCCTCCCTTGGAAATATCTTCTATGTCTCATCCTTATGGGACCTTAGTCTGGGCTCATGAGCTGTCTTGGAAAATCTGGGCTTGCTGATCCCGATGCAGGAGTGGGTGGTCCCCAAGGCCTGCTCTGAACGCTGCAATTCTAACATCTAGATATCAGTGGTTCTCCAAGGGCAAGAGGGGCTTTTTAAGCTGCAAATACTCCCTCCTCTCCCAAACCCAGTTTTCAATGGGGTTAAGCCTGTCTCATCCACTTCAACTTCCATTTTGTGGACTGGGAAAGATTATGAATGGGAACCTGATGCATGTGTGAACAGTTGGAGGCAAGAAAAAGATTGAGAACTACAGTCTAAGGTTCCAACATTTCTGTGGTTGTATTAGTCAGTGATTCCATTATCCCAAAAGCCTAAGATTTTAGGCACTATGATTCCTCATAGGTGTCATCCAGAGGN
pathogenic
313,702
Evaluate the clinical significance of the mutation at chromosome 20, position 44413792 in gene HNF4A (hepatocyte nuclear factor 4 alpha): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
pathogenic; ['Monogenic_diabetes']
GGAGAAATAGGGTTCTTATAAGAATTAGAGTTTATGACCAGGTGTGGTGCCTCGCACCTGTAATCCCAGCATTTTGTGAGGCTGAGTGGATCACTTAAAGCCAGGTTTTCGAGACCAGCCTGGGCAACCTAATGAGACCCCGTCTCTCAAAAAAAAAAAAAAATTTAGCCAGGCGTGGTGGCACACGCCTATAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTATGATTGCACCACTGCAGTCCAGCCTGGGCAACAAAATGAGACCCCATCTCGAAAAAAAAAAAGAAAAAGAATTAGAGCTTGTCTCTTCCAATGCCTTCGTTCTCTCACTGCACAAATATTCATTGAGTACCTACTGTGAACCAGGCCCTGTTCTGGTGGCTGGGACTACAGCAGTGAACTAGAGGGATGGAGTTTTGGCCTTCTGAAGCTTTCCTTCTCAGAGAGAGACAGATAGTAAAGGAAGTAACAAATAATTCTACAATAAGTGACTTGAAGAAAAATAAAGCATGGGGGGCAGGGCCAGGGTGGGAGTCATGTTGTGTTAGACAGGGTGGCTGGAGAGGGTGTCTGAAAGGCGACATTTGTGCAGAGGCAGGAGTGAAATGAAGATGCTGCTGCGCTGTGCAGGAAAGGGAACCCCAGGCAGTGACCACAGCAGCCTACAAGCGTGCGGATGCGTCCAGGTGGGGAGGCGGGTTTTCGCGGACAGAGTGTGTAGGGGGAAGCCGGTAAAAGGTGCGATCCGAGAGGAGAGGAAGGGCCCTGGGGACTTGTGAGGTTGGAAGGCACTGGTTTTGAGCAGCAGGCGACATGACTTGAACGGATCCCTCTGTCTCTGAGAGGAACACAGACTGCAGGCGCAAGGCAGAAGCAGAGCCCAGGAGGAGGCTGATCTAATCCAGGAGAGACAGCGGGCCTGGGAGCAGGGAGGGAGCAGCAGGTCTGTTTGTCAGGATCACGACAGCACTGGGGTGTGAGGGGAAGCCAAGGAAGGTGGCCAGGCTTGATGCCAGTCCCTGAGACGAGAAAGAGTGCAGGGAGCCGGCTGGCAGGGAAATGCCTACGGGTAGGGAAACTGAGCCCCAGAGAGAGGCTGCGATTGCCACCGGCACACAGAGTGGCAGGTTCCAGACAGGAAGCCGGGTCTGGTGCAGCTTCAACCTCCCTCCTTTCTGAATCAGCCAAGCCTCATTCCACAGTGAGGCCTCTTGGACTCCAAGGGCTATCCCATCCACTGTCGGGATGGTGGAAGGATCATCTTCTATCTCAGGCCAGGACTGACCCAGATGGGAGCAGGCAGTGGAGCCTGGGGCCCCGGTGGGCGTAGGCTCCAGATCCCTCAGTGCCTGGAACAGAGCAGCAGTGGGAGGGAGGGAGACAGCGCCTGGCCTTGCTGATGCTGAGGTTAGTCTGGAGTACATGCAGCTCCTGCTGATGGACAAAACCATCAAGGCAGTTGGAGCCCCCAGATCCTCTTGTTCAGGAATCCCCAGGCCATCTCCTTGTCACCCAGAGTAATTTGTTTTGCTTGCTTTACTCACTTTCATTTGGAAAGAAAGGGACCCTTTTGTAGACCAGAGCTTGAACATCTTTAAGCTAGTCAGATCCCCTCCTCAATGCTCAAGACCAATTTTAAACCCATAGCCGAGTCTTCACTGTCTTGCGCGCCCCTGCTGATGGGTGGATCACTCTTATAGCCTCTCCATTGTGTTGGGGGCAGTTGTGATATGTGGAAAGTTCTTCCACCAGCTGAGTTAGAGGCCATCTCCCCTCATTCCACATGCTGATGTGGGCCTGTTCTCTGGACACCCCCCACCTCCTGCTCCCACTCCTCATCAGTCACAGACACCCCCACCCCCTACTCCATCCCTGTTCTCCCTCCTCACCTCTCTGTGCCTCCTCACAGCCGTCCAGAATGAGCGGGACCGGATCAGCACTCGAAGGTCAAGCTATGAGGACAGCAGCCTGCCCTCCATCAATGCGCTCCTGCAGGCGGAGGTCCTGTCCCGACAGGTACCGGGGTGATCCTGCCACCCACCCAGGGATCCCCCACACTACAGAGGAGCTCACCTCCTCCACCTCCATTCTCCCCAGCCAGGCCCTGGAGCAGCTGACGGGAGGGGCCTCAGATATTACAGAAGGGACACTGAGTCCGGTTTCACATGGCCCAGTTTGCAGCAAGGGCAGGAATCGAACCTGGCGCCCTGGGGCACTTTCTAATTCATCCTACTGCCTGCATCCCACAGGCCAAGCAGAGTCTTCACCTTCACTGAGGGCCTGCGATCAGCTCAGCTCCGAGAGAACAGAGCAGTGGCTCAGTGGAGAGAGGTGGCAAAGTGGGGCCCAGCCCTTCCCTTGCTGAGTGACCTTGGGCAAGTCACAGCACCTCTCTGAGCCATGGTTGCCTCATTGTCAGAAAAGGATGATGATTTTTTGCCCTGCTTCTCCTCTAAGGCTGACAGACTCCTTGGGGCTCTAAAGCTGACAGAGGAGGGGGCAGGGGGCAGGTAACAGGTGAAGGCACAGAGGGAGCCCTTCTCCCTCATCCCTGCCTCCTCCCTCCCTCCGTTTTTACCCTGAGCTTCCTTCAGAGCTGGAGGGCACCCACTATCCAGCCCCCTCCCCACATCTGATTCCAGGGAGGGGGCTCTGTGCAGGGGACAGAGAGTGCGGGAGGGCCCGGACATCTCCAGCATTTTCTTCCCTGTATCTCTCGAAGATCACCTCCCCCGTCTCCGGGATCAACGGCGACATTCGGGCGAAGAAGATTGCCAGCATCGCAGATGTGTGTGAGTCCATGAAGGAGCAGCTGCTGGTTCTCGTTGAGTGGGCCAAGTACATCCCAGCTTTCTGCGAGCTCCCCCTGGACGACCAGGTGAGGATGGGCGTGGATGGTGGGCAGTAGTGGGCAGTGGGCGGGGCAGCCAGGGGGCTGCTGGCCCACCTGGGATATAGCCGTGGACTGGCTTGATTTTATTTTATTTAACAAAATATGTAGTGCACACACGTGTCTGAAACTTTAAATCACCTTACAAATATTAACTCAGTTAGCTCCTCCAACAACTCTATGAGGTAGGTACTAAGGTACTATTATTACTGCCATCTCATAGGTGAGGAGATTGGGGCACAGAGAGGTTAAGTAACCTGCTCAAGGTCACATAGCTACTATCCAGCATAGCTGGGATTAGAACCTGGCAGGAAGCTCCAAAGTCCAAGCTCCTGACCATTGTACCTGAGGCTCTCCCAGGGGGATGTTGACAGGGACCCTAGGACAGGGATCAGGAGATTTTGGCTTAAGCTATGGCTCTAAGACTGGTTGTCTGCCTAATCCTGGGCAAATGAGTTCCTCTCTCTGAGCCTCAGTGTTCTCTTATCTGTAAAGTGGAAATGATAATATCCACTTTAGAGTGTGGTTGGGAGGATTGAGGACATTGGTGTCTGAAAAGTACAAAAATCAGGTGATGGGGCAAGCTGCACAGTGGCCAGACCAGAGCTGGTCTCCCTAAACATTAGTTTCTTCCTTGTTTCCCACCAAAACGATTGAACTCAGCATCGTGTTTCCCACCAAAACAATTGAACTGAGCATCATATTTCCCACCGTACATTTTTTTGGAATACTGAAATGTCCCTAGGGGGAAGAAAGGGTTGAAGGAAGGTGGCGTGTGTCTGAGGACAGATGAATTTCGGAGATGCCACCTATGAAGCTCCTGCCCAGAGCACCCCTGGGCCTCCAAAGAGATGTTACCCATCTGGGGAAGAGGAGCTGGGCTGGGCCACCTTCTCAGCTTCGGAGACAGACTCTGGTGCATTCGCTTACCCGTTTCGCACCTTTGCATAAGACACTGACAATGCATGTGAGTCTGTGAAAGCTTCTGAGAAGTCTCGTCCAGGCAGTTGTTTGACTTTGCAGAGGCCGAGGCTTCTCAAACTCCTTCGGCAAGATTCTCCTGGAACACCTATTAATACTGCACATTGGGACACTGTGAAAACGCTGGTTTGGCTTGTCCCCAGCCTCATACAGGGGCTGGACCCGGGGCCCTCTTCCATGGTTC
GGAGAAATAGGGTTCTTATAAGAATTAGAGTTTATGACCAGGTGTGGTGCCTCGCACCTGTAATCCCAGCATTTTGTGAGGCTGAGTGGATCACTTAAAGCCAGGTTTTCGAGACCAGCCTGGGCAACCTAATGAGACCCCGTCTCTCAAAAAAAAAAAAAAATTTAGCCAGGCGTGGTGGCACACGCCTATAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTATGATTGCACCACTGCAGTCCAGCCTGGGCAACAAAATGAGACCCCATCTCGAAAAAAAAAAAGAAAAAGAATTAGAGCTTGTCTCTTCCAATGCCTTCGTTCTCTCACTGCACAAATATTCATTGAGTACCTACTGTGAACCAGGCCCTGTTCTGGTGGCTGGGACTACAGCAGTGAACTAGAGGGATGGAGTTTTGGCCTTCTGAAGCTTTCCTTCTCAGAGAGAGACAGATAGTAAAGGAAGTAACAAATAATTCTACAATAAGTGACTTGAAGAAAAATAAAGCATGGGGGGCAGGGCCAGGGTGGGAGTCATGTTGTGTTAGACAGGGTGGCTGGAGAGGGTGTCTGAAAGGCGACATTTGTGCAGAGGCAGGAGTGAAATGAAGATGCTGCTGCGCTGTGCAGGAAAGGGAACCCCAGGCAGTGACCACAGCAGCCTACAAGCGTGCGGATGCGTCCAGGTGGGGAGGCGGGTTTTCGCGGACAGAGTGTGTAGGGGGAAGCCGGTAAAAGGTGCGATCCGAGAGGAGAGGAAGGGCCCTGGGGACTTGTGAGGTTGGAAGGCACTGGTTTTGAGCAGCAGGCGACATGACTTGAACGGATCCCTCTGTCTCTGAGAGGAACACAGACTGCAGGCGCAAGGCAGAAGCAGAGCCCAGGAGGAGGCTGATCTAATCCAGGAGAGACAGCGGGCCTGGGAGCAGGGAGGGAGCAGCAGGTCTGTTTGTCAGGATCACGACAGCACTGGGGTGTGAGGGGAAGCCAAGGAAGGTGGCCAGGCTTGATGCCAGTCCCTGAGACGAGAAAGAGTGCAGGGAGCCGGCTGGCAGGGAAATGCCTACGGGTAGGGAAACTGAGCCCCAGAGAGAGGCTGCGATTGCCACCGGCACACAGAGTGGCAGGTTCCAGACAGGAAGCCGGGTCTGGTGCAGCTTCAACCTCCCTCCTTTCTGAATCAGCCAAGCCTCATTCCACAGTGAGGCCTCTTGGACTCCAAGGGCTATCCCATCCACTGTCGGGATGGTGGAAGGATCATCTTCTATCTCAGGCCAGGACTGACCCAGATGGGAGCAGGCAGTGGAGCCTGGGGCCCCGGTGGGCGTAGGCTCCAGATCCCTCAGTGCCTGGAACAGAGCAGCAGTGGGAGGGAGGGAGACAGCGCCTGGCCTTGCTGATGCTGAGGTTAGTCTGGAGTACATGCAGCTCCTGCTGATGGACAAAACCATCAAGGCAGTTGGAGCCCCCAGATCCTCTTGTTCAGGAATCCCCAGGCCATCTCCTTGTCACCCAGAGTAATTTGTTTTGCTTGCTTTACTCACTTTCATTTGGAAAGAAAGGGACCCTTTTGTAGACCAGAGCTTGAACATCTTTAAGCTAGTCAGATCCCCTCCTCAATGCTCAAGACCAATTTTAAACCCATAGCCGAGTCTTCACTGTCTTGCGCGCCCCTGCTGATGGGTGGATCACTCTTATAGCCTCTCCATTGTGTTGGGGGCAGTTGTGATATGTGGAAAGTTCTTCCACCAGCTGAGTTAGAGGCCATCTCCCCTCATTCCACATGCTGATGTGGGCCTGTTCTCTGGACACCCCCCACCTCCTGCTCCCACTCCTCATCAGTCACAGACACCCCCACCCCCTACTCCATCCCTGTTCTCCCTCCTCACCTCTCTGTGCCTCCTCACAGCCGTCCAGAATGAGCGGGACCGGATCAGCACTCGAAGGTCAAGCTATGAGGACAGCAGCCTGCCCTCCATCAATGCGCTCCTGCAGGCGGAGGTCCTGTCCGACAGGTACCGGGGTGATCCTGCCACCCACCCAGGGATCCCCCACACTACAGAGGAGCTCACCTCCTCCACCTCCATTCTCCCCAGCCAGGCCCTGGAGCAGCTGACGGGAGGGGCCTCAGATATTACAGAAGGGACACTGAGTCCGGTTTCACATGGCCCAGTTTGCAGCAAGGGCAGGAATCGAACCTGGCGCCCTGGGGCACTTTCTAATTCATCCTACTGCCTGCATCCCACAGGCCAAGCAGAGTCTTCACCTTCACTGAGGGCCTGCGATCAGCTCAGCTCCGAGAGAACAGAGCAGTGGCTCAGTGGAGAGAGGTGGCAAAGTGGGGCCCAGCCCTTCCCTTGCTGAGTGACCTTGGGCAAGTCACAGCACCTCTCTGAGCCATGGTTGCCTCATTGTCAGAAAAGGATGATGATTTTTTGCCCTGCTTCTCCTCTAAGGCTGACAGACTCCTTGGGGCTCTAAAGCTGACAGAGGAGGGGGCAGGGGGCAGGTAACAGGTGAAGGCACAGAGGGAGCCCTTCTCCCTCATCCCTGCCTCCTCCCTCCCTCCGTTTTTACCCTGAGCTTCCTTCAGAGCTGGAGGGCACCCACTATCCAGCCCCCTCCCCACATCTGATTCCAGGGAGGGGGCTCTGTGCAGGGGACAGAGAGTGCGGGAGGGCCCGGACATCTCCAGCATTTTCTTCCCTGTATCTCTCGAAGATCACCTCCCCCGTCTCCGGGATCAACGGCGACATTCGGGCGAAGAAGATTGCCAGCATCGCAGATGTGTGTGAGTCCATGAAGGAGCAGCTGCTGGTTCTCGTTGAGTGGGCCAAGTACATCCCAGCTTTCTGCGAGCTCCCCCTGGACGACCAGGTGAGGATGGGCGTGGATGGTGGGCAGTAGTGGGCAGTGGGCGGGGCAGCCAGGGGGCTGCTGGCCCACCTGGGATATAGCCGTGGACTGGCTTGATTTTATTTTATTTAACAAAATATGTAGTGCACACACGTGTCTGAAACTTTAAATCACCTTACAAATATTAACTCAGTTAGCTCCTCCAACAACTCTATGAGGTAGGTACTAAGGTACTATTATTACTGCCATCTCATAGGTGAGGAGATTGGGGCACAGAGAGGTTAAGTAACCTGCTCAAGGTCACATAGCTACTATCCAGCATAGCTGGGATTAGAACCTGGCAGGAAGCTCCAAAGTCCAAGCTCCTGACCATTGTACCTGAGGCTCTCCCAGGGGGATGTTGACAGGGACCCTAGGACAGGGATCAGGAGATTTTGGCTTAAGCTATGGCTCTAAGACTGGTTGTCTGCCTAATCCTGGGCAAATGAGTTCCTCTCTCTGAGCCTCAGTGTTCTCTTATCTGTAAAGTGGAAATGATAATATCCACTTTAGAGTGTGGTTGGGAGGATTGAGGACATTGGTGTCTGAAAAGTACAAAAATCAGGTGATGGGGCAAGCTGCACAGTGGCCAGACCAGAGCTGGTCTCCCTAAACATTAGTTTCTTCCTTGTTTCCCACCAAAACGATTGAACTCAGCATCGTGTTTCCCACCAAAACAATTGAACTGAGCATCATATTTCCCACCGTACATTTTTTTGGAATACTGAAATGTCCCTAGGGGGAAGAAAGGGTTGAAGGAAGGTGGCGTGTGTCTGAGGACAGATGAATTTCGGAGATGCCACCTATGAAGCTCCTGCCCAGAGCACCCCTGGGCCTCCAAAGAGATGTTACCCATCTGGGGAAGAGGAGCTGGGCTGGGCCACCTTCTCAGCTTCGGAGACAGACTCTGGTGCATTCGCTTACCCGTTTCGCACCTTTGCATAAGACACTGACAATGCATGTGAGTCTGTGAAAGCTTCTGAGAAGTCTCGTCCAGGCAGTTGTTTGACTTTGCAGAGGCCGAGGCTTCTCAAACTCCTTCGGCAAGATTCTCCTGGAACACCTATTAATACTGCACATTGGGACACTGTGAAAACGCTGGTTTGGCTTGTCCCCAGCCTCATACAGGGGCTGGACCCGGGGCCCTCTTCCATGGTTCN
pathogenic
313,728
A genetic variant on chromosome 20, position 44414569, affects the gene HNF4A (hepatocyte nuclear factor 4 alpha). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
pathogenic; ['Monogenic_diabetes']
AGGTGCGATCCGAGAGGAGAGGAAGGGCCCTGGGGACTTGTGAGGTTGGAAGGCACTGGTTTTGAGCAGCAGGCGACATGACTTGAACGGATCCCTCTGTCTCTGAGAGGAACACAGACTGCAGGCGCAAGGCAGAAGCAGAGCCCAGGAGGAGGCTGATCTAATCCAGGAGAGACAGCGGGCCTGGGAGCAGGGAGGGAGCAGCAGGTCTGTTTGTCAGGATCACGACAGCACTGGGGTGTGAGGGGAAGCCAAGGAAGGTGGCCAGGCTTGATGCCAGTCCCTGAGACGAGAAAGAGTGCAGGGAGCCGGCTGGCAGGGAAATGCCTACGGGTAGGGAAACTGAGCCCCAGAGAGAGGCTGCGATTGCCACCGGCACACAGAGTGGCAGGTTCCAGACAGGAAGCCGGGTCTGGTGCAGCTTCAACCTCCCTCCTTTCTGAATCAGCCAAGCCTCATTCCACAGTGAGGCCTCTTGGACTCCAAGGGCTATCCCATCCACTGTCGGGATGGTGGAAGGATCATCTTCTATCTCAGGCCAGGACTGACCCAGATGGGAGCAGGCAGTGGAGCCTGGGGCCCCGGTGGGCGTAGGCTCCAGATCCCTCAGTGCCTGGAACAGAGCAGCAGTGGGAGGGAGGGAGACAGCGCCTGGCCTTGCTGATGCTGAGGTTAGTCTGGAGTACATGCAGCTCCTGCTGATGGACAAAACCATCAAGGCAGTTGGAGCCCCCAGATCCTCTTGTTCAGGAATCCCCAGGCCATCTCCTTGTCACCCAGAGTAATTTGTTTTGCTTGCTTTACTCACTTTCATTTGGAAAGAAAGGGACCCTTTTGTAGACCAGAGCTTGAACATCTTTAAGCTAGTCAGATCCCCTCCTCAATGCTCAAGACCAATTTTAAACCCATAGCCGAGTCTTCACTGTCTTGCGCGCCCCTGCTGATGGGTGGATCACTCTTATAGCCTCTCCATTGTGTTGGGGGCAGTTGTGATATGTGGAAAGTTCTTCCACCAGCTGAGTTAGAGGCCATCTCCCCTCATTCCACATGCTGATGTGGGCCTGTTCTCTGGACACCCCCCACCTCCTGCTCCCACTCCTCATCAGTCACAGACACCCCCACCCCCTACTCCATCCCTGTTCTCCCTCCTCACCTCTCTGTGCCTCCTCACAGCCGTCCAGAATGAGCGGGACCGGATCAGCACTCGAAGGTCAAGCTATGAGGACAGCAGCCTGCCCTCCATCAATGCGCTCCTGCAGGCGGAGGTCCTGTCCCGACAGGTACCGGGGTGATCCTGCCACCCACCCAGGGATCCCCCACACTACAGAGGAGCTCACCTCCTCCACCTCCATTCTCCCCAGCCAGGCCCTGGAGCAGCTGACGGGAGGGGCCTCAGATATTACAGAAGGGACACTGAGTCCGGTTTCACATGGCCCAGTTTGCAGCAAGGGCAGGAATCGAACCTGGCGCCCTGGGGCACTTTCTAATTCATCCTACTGCCTGCATCCCACAGGCCAAGCAGAGTCTTCACCTTCACTGAGGGCCTGCGATCAGCTCAGCTCCGAGAGAACAGAGCAGTGGCTCAGTGGAGAGAGGTGGCAAAGTGGGGCCCAGCCCTTCCCTTGCTGAGTGACCTTGGGCAAGTCACAGCACCTCTCTGAGCCATGGTTGCCTCATTGTCAGAAAAGGATGATGATTTTTTGCCCTGCTTCTCCTCTAAGGCTGACAGACTCCTTGGGGCTCTAAAGCTGACAGAGGAGGGGGCAGGGGGCAGGTAACAGGTGAAGGCACAGAGGGAGCCCTTCTCCCTCATCCCTGCCTCCTCCCTCCCTCCGTTTTTACCCTGAGCTTCCTTCAGAGCTGGAGGGCACCCACTATCCAGCCCCCTCCCCACATCTGATTCCAGGGAGGGGGCTCTGTGCAGGGGACAGAGAGTGCGGGAGGGCCCGGACATCTCCAGCATTTTCTTCCCTGTATCTCTCGAAGATCACCTCCCCCGTCTCCGGGATCAACGGCGACATTCGGGCGAAGAAGATTGCCAGCATCGCAGATGTGTGTGAGTCCATGAAGGAGCAGCTGCTGGTTCTCGTTGAGTGGGCCAAGTACATCCCAGCTTTCTGCGAGCTCCCCCTGGACGACCAGGTGAGGATGGGCGTGGATGGTGGGCAGTAGTGGGCAGTGGGCGGGGCAGCCAGGGGGCTGCTGGCCCACCTGGGATATAGCCGTGGACTGGCTTGATTTTATTTTATTTAACAAAATATGTAGTGCACACACGTGTCTGAAACTTTAAATCACCTTACAAATATTAACTCAGTTAGCTCCTCCAACAACTCTATGAGGTAGGTACTAAGGTACTATTATTACTGCCATCTCATAGGTGAGGAGATTGGGGCACAGAGAGGTTAAGTAACCTGCTCAAGGTCACATAGCTACTATCCAGCATAGCTGGGATTAGAACCTGGCAGGAAGCTCCAAAGTCCAAGCTCCTGACCATTGTACCTGAGGCTCTCCCAGGGGGATGTTGACAGGGACCCTAGGACAGGGATCAGGAGATTTTGGCTTAAGCTATGGCTCTAAGACTGGTTGTCTGCCTAATCCTGGGCAAATGAGTTCCTCTCTCTGAGCCTCAGTGTTCTCTTATCTGTAAAGTGGAAATGATAATATCCACTTTAGAGTGTGGTTGGGAGGATTGAGGACATTGGTGTCTGAAAAGTACAAAAATCAGGTGATGGGGCAAGCTGCACAGTGGCCAGACCAGAGCTGGTCTCCCTAAACATTAGTTTCTTCCTTGTTTCCCACCAAAACGATTGAACTCAGCATCGTGTTTCCCACCAAAACAATTGAACTGAGCATCATATTTCCCACCGTACATTTTTTTGGAATACTGAAATGTCCCTAGGGGGAAGAAAGGGTTGAAGGAAGGTGGCGTGTGTCTGAGGACAGATGAATTTCGGAGATGCCACCTATGAAGCTCCTGCCCAGAGCACCCCTGGGCCTCCAAAGAGATGTTACCCATCTGGGGAAGAGGAGCTGGGCTGGGCCACCTTCTCAGCTTCGGAGACAGACTCTGGTGCATTCGCTTACCCGTTTCGCACCTTTGCATAAGACACTGACAATGCATGTGAGTCTGTGAAAGCTTCTGAGAAGTCTCGTCCAGGCAGTTGTTTGACTTTGCAGAGGCCGAGGCTTCTCAAACTCCTTCGGCAAGATTCTCCTGGAACACCTATTAATACTGCACATTGGGACACTGTGAAAACGCTGGTTTGGCTTGTCCCCAGCCTCATACAGGGGCTGGACCCGGGGCCCTCTTCCATGGTTCCTCCTTCCATTAGCAGAGTCGACAGGGCAAGGATCTTGGACAATCCGCCCCTACCCTCTCCCCTGTTCCTTGTGCTCTGGCCCCAGTCCCCTCTGCTGGAGTCTCTACATTAATGTTTAATCCCTCCTGTTCCTTCCCAGGGGCTTAGCAGGGCAACAAGATACCCCCAACCTGAGCAATTGTTAACCTCGATTTCCCACCCAAACCTCCCTGGCTGGGGCTCAGAGCATTCTCAGAGAGCAATGATGGGTGGCCAATAACACAGGACAATCATTAACACACCACCCCGACCTCCCGGCCCACCCCCCAGAACAGCTGCCATATCAGGGGGTTGAACCTGGGATCAGAAGGGTTCCCAGCTCCCCATTCCTGGTATATGAGGAGCCCAGCTTGCCCAATGCAGGTGGGGCATCCCTGGGAAAGTCGGGGGCATTGTCCTCCAAAGGGCTTCCCAATTTTGTTGACATTGCCCCAGAAACTAGATTCCCAGTTGGTGTGCTTCTTGGGCCTGGATACAATTGCAGAAAGAGATTGGGGCTTAGAGAGAGACAGAAATTTGCCTGAAGTCACAGAGCAAGTTAGCGACAGAACTGGGATTCAAATCCAGGTCTTCCGCTTCGCGATGTGAAGGCCACTGGAGTGACTGATGAAAGACTTGCACAGTGCCCAGTGCGCAGGAGGCGCTTGGCAATCAGCATCCTCGGCCTCCCTCCATACTGGTCATGGAAAGTGGATTTTCCCTCCCAGGCAGTTTCCTCTTTTTCTGTTTTCCTCACA
AGGTGCGATCCGAGAGGAGAGGAAGGGCCCTGGGGACTTGTGAGGTTGGAAGGCACTGGTTTTGAGCAGCAGGCGACATGACTTGAACGGATCCCTCTGTCTCTGAGAGGAACACAGACTGCAGGCGCAAGGCAGAAGCAGAGCCCAGGAGGAGGCTGATCTAATCCAGGAGAGACAGCGGGCCTGGGAGCAGGGAGGGAGCAGCAGGTCTGTTTGTCAGGATCACGACAGCACTGGGGTGTGAGGGGAAGCCAAGGAAGGTGGCCAGGCTTGATGCCAGTCCCTGAGACGAGAAAGAGTGCAGGGAGCCGGCTGGCAGGGAAATGCCTACGGGTAGGGAAACTGAGCCCCAGAGAGAGGCTGCGATTGCCACCGGCACACAGAGTGGCAGGTTCCAGACAGGAAGCCGGGTCTGGTGCAGCTTCAACCTCCCTCCTTTCTGAATCAGCCAAGCCTCATTCCACAGTGAGGCCTCTTGGACTCCAAGGGCTATCCCATCCACTGTCGGGATGGTGGAAGGATCATCTTCTATCTCAGGCCAGGACTGACCCAGATGGGAGCAGGCAGTGGAGCCTGGGGCCCCGGTGGGCGTAGGCTCCAGATCCCTCAGTGCCTGGAACAGAGCAGCAGTGGGAGGGAGGGAGACAGCGCCTGGCCTTGCTGATGCTGAGGTTAGTCTGGAGTACATGCAGCTCCTGCTGATGGACAAAACCATCAAGGCAGTTGGAGCCCCCAGATCCTCTTGTTCAGGAATCCCCAGGCCATCTCCTTGTCACCCAGAGTAATTTGTTTTGCTTGCTTTACTCACTTTCATTTGGAAAGAAAGGGACCCTTTTGTAGACCAGAGCTTGAACATCTTTAAGCTAGTCAGATCCCCTCCTCAATGCTCAAGACCAATTTTAAACCCATAGCCGAGTCTTCACTGTCTTGCGCGCCCCTGCTGATGGGTGGATCACTCTTATAGCCTCTCCATTGTGTTGGGGGCAGTTGTGATATGTGGAAAGTTCTTCCACCAGCTGAGTTAGAGGCCATCTCCCCTCATTCCACATGCTGATGTGGGCCTGTTCTCTGGACACCCCCCACCTCCTGCTCCCACTCCTCATCAGTCACAGACACCCCCACCCCCTACTCCATCCCTGTTCTCCCTCCTCACCTCTCTGTGCCTCCTCACAGCCGTCCAGAATGAGCGGGACCGGATCAGCACTCGAAGGTCAAGCTATGAGGACAGCAGCCTGCCCTCCATCAATGCGCTCCTGCAGGCGGAGGTCCTGTCCCGACAGGTACCGGGGTGATCCTGCCACCCACCCAGGGATCCCCCACACTACAGAGGAGCTCACCTCCTCCACCTCCATTCTCCCCAGCCAGGCCCTGGAGCAGCTGACGGGAGGGGCCTCAGATATTACAGAAGGGACACTGAGTCCGGTTTCACATGGCCCAGTTTGCAGCAAGGGCAGGAATCGAACCTGGCGCCCTGGGGCACTTTCTAATTCATCCTACTGCCTGCATCCCACAGGCCAAGCAGAGTCTTCACCTTCACTGAGGGCCTGCGATCAGCTCAGCTCCGAGAGAACAGAGCAGTGGCTCAGTGGAGAGAGGTGGCAAAGTGGGGCCCAGCCCTTCCCTTGCTGAGTGACCTTGGGCAAGTCACAGCACCTCTCTGAGCCATGGTTGCCTCATTGTCAGAAAAGGATGATGATTTTTTGCCCTGCTTCTCCTCTAAGGCTGACAGACTCCTTGGGGCTCTAAAGCTGACAGAGGAGGGGGCAGGGGGCAGGTAACAGGTGAAGGCACAGAGGGAGCCCTTCTCCCTCATCCCTGCCTCCTCCCTCCCTCCGTTTTTACCCTGAGCTTCCTTCAGAGCTGGAGGGCACCCACTATCCAGCCCCCTCCCCACATCTGATTCCAGGGAGGGGGCTCTGTGCAGGGGACAGAGAGTGCGGGAGGGCCCGGACATCTCCAGCATTTTCTTCCCTGTATCTCTCGAAGATCACCTCCCCCGTCTCCGGGATCAACGGCGACATTCGGGCGAAGAAGATTGCCAGCATCGCAGGATGTGTGTGAGTCCATGAAGGAGCAGCTGCTGGTTCTCGTTGAGTGGGCCAAGTACATCCCAGCTTTCTGCGAGCTCCCCCTGGACGACCAGGTGAGGATGGGCGTGGATGGTGGGCAGTAGTGGGCAGTGGGCGGGGCAGCCAGGGGGCTGCTGGCCCACCTGGGATATAGCCGTGGACTGGCTTGATTTTATTTTATTTAACAAAATATGTAGTGCACACACGTGTCTGAAACTTTAAATCACCTTACAAATATTAACTCAGTTAGCTCCTCCAACAACTCTATGAGGTAGGTACTAAGGTACTATTATTACTGCCATCTCATAGGTGAGGAGATTGGGGCACAGAGAGGTTAAGTAACCTGCTCAAGGTCACATAGCTACTATCCAGCATAGCTGGGATTAGAACCTGGCAGGAAGCTCCAAAGTCCAAGCTCCTGACCATTGTACCTGAGGCTCTCCCAGGGGGATGTTGACAGGGACCCTAGGACAGGGATCAGGAGATTTTGGCTTAAGCTATGGCTCTAAGACTGGTTGTCTGCCTAATCCTGGGCAAATGAGTTCCTCTCTCTGAGCCTCAGTGTTCTCTTATCTGTAAAGTGGAAATGATAATATCCACTTTAGAGTGTGGTTGGGAGGATTGAGGACATTGGTGTCTGAAAAGTACAAAAATCAGGTGATGGGGCAAGCTGCACAGTGGCCAGACCAGAGCTGGTCTCCCTAAACATTAGTTTCTTCCTTGTTTCCCACCAAAACGATTGAACTCAGCATCGTGTTTCCCACCAAAACAATTGAACTGAGCATCATATTTCCCACCGTACATTTTTTTGGAATACTGAAATGTCCCTAGGGGGAAGAAAGGGTTGAAGGAAGGTGGCGTGTGTCTGAGGACAGATGAATTTCGGAGATGCCACCTATGAAGCTCCTGCCCAGAGCACCCCTGGGCCTCCAAAGAGATGTTACCCATCTGGGGAAGAGGAGCTGGGCTGGGCCACCTTCTCAGCTTCGGAGACAGACTCTGGTGCATTCGCTTACCCGTTTCGCACCTTTGCATAAGACACTGACAATGCATGTGAGTCTGTGAAAGCTTCTGAGAAGTCTCGTCCAGGCAGTTGTTTGACTTTGCAGAGGCCGAGGCTTCTCAAACTCCTTCGGCAAGATTCTCCTGGAACACCTATTAATACTGCACATTGGGACACTGTGAAAACGCTGGTTTGGCTTGTCCCCAGCCTCATACAGGGGCTGGACCCGGGGCCCTCTTCCATGGTTCCTCCTTCCATTAGCAGAGTCGACAGGGCAAGGATCTTGGACAATCCGCCCCTACCCTCTCCCCTGTTCCTTGTGCTCTGGCCCCAGTCCCCTCTGCTGGAGTCTCTACATTAATGTTTAATCCCTCCTGTTCCTTCCCAGGGGCTTAGCAGGGCAACAAGATACCCCCAACCTGAGCAATTGTTAACCTCGATTTCCCACCCAAACCTCCCTGGCTGGGGCTCAGAGCATTCTCAGAGAGCAATGATGGGTGGCCAATAACACAGGACAATCATTAACACACCACCCCGACCTCCCGGCCCACCCCCCAGAACAGCTGCCATATCAGGGGGTTGAACCTGGGATCAGAAGGGTTCCCAGCTCCCCATTCCTGGTATATGAGGAGCCCAGCTTGCCCAATGCAGGTGGGGCATCCCTGGGAAAGTCGGGGGCATTGTCCTCCAAAGGGCTTCCCAATTTTGTTGACATTGCCCCAGAAACTAGATTCCCAGTTGGTGTGCTTCTTGGGCCTGGATACAATTGCAGAAAGAGATTGGGGCTTAGAGAGAGACAGAAATTTGCCTGAAGTCACAGAGCAAGTTAGCGACAGAACTGGGATTCAAATCCAGGTCTTCCGCTTCGCGATGTGAAGGCCACTGGAGTGACTGATGAAAGACTTGCACAGTGCCCAGTGCGCAGGAGGCGCTTGGCAATCAGCATCCTCGGCCTCCCTCCATACTGGTCATGGAAAGTGGATTTTCCCTCCCAGGCAGTTTCCTCTTTTTCTGTTTTCCTCAC
pathogenic
313,741
Considering the genetic mutation at chromosome 20, position 44414651, impacting HNF4A (hepatocyte nuclear factor 4 alpha): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Maturity-onset_diabetes_of_the_young_type_1', 'Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes']
TTGAACGGATCCCTCTGTCTCTGAGAGGAACACAGACTGCAGGCGCAAGGCAGAAGCAGAGCCCAGGAGGAGGCTGATCTAATCCAGGAGAGACAGCGGGCCTGGGAGCAGGGAGGGAGCAGCAGGTCTGTTTGTCAGGATCACGACAGCACTGGGGTGTGAGGGGAAGCCAAGGAAGGTGGCCAGGCTTGATGCCAGTCCCTGAGACGAGAAAGAGTGCAGGGAGCCGGCTGGCAGGGAAATGCCTACGGGTAGGGAAACTGAGCCCCAGAGAGAGGCTGCGATTGCCACCGGCACACAGAGTGGCAGGTTCCAGACAGGAAGCCGGGTCTGGTGCAGCTTCAACCTCCCTCCTTTCTGAATCAGCCAAGCCTCATTCCACAGTGAGGCCTCTTGGACTCCAAGGGCTATCCCATCCACTGTCGGGATGGTGGAAGGATCATCTTCTATCTCAGGCCAGGACTGACCCAGATGGGAGCAGGCAGTGGAGCCTGGGGCCCCGGTGGGCGTAGGCTCCAGATCCCTCAGTGCCTGGAACAGAGCAGCAGTGGGAGGGAGGGAGACAGCGCCTGGCCTTGCTGATGCTGAGGTTAGTCTGGAGTACATGCAGCTCCTGCTGATGGACAAAACCATCAAGGCAGTTGGAGCCCCCAGATCCTCTTGTTCAGGAATCCCCAGGCCATCTCCTTGTCACCCAGAGTAATTTGTTTTGCTTGCTTTACTCACTTTCATTTGGAAAGAAAGGGACCCTTTTGTAGACCAGAGCTTGAACATCTTTAAGCTAGTCAGATCCCCTCCTCAATGCTCAAGACCAATTTTAAACCCATAGCCGAGTCTTCACTGTCTTGCGCGCCCCTGCTGATGGGTGGATCACTCTTATAGCCTCTCCATTGTGTTGGGGGCAGTTGTGATATGTGGAAAGTTCTTCCACCAGCTGAGTTAGAGGCCATCTCCCCTCATTCCACATGCTGATGTGGGCCTGTTCTCTGGACACCCCCCACCTCCTGCTCCCACTCCTCATCAGTCACAGACACCCCCACCCCCTACTCCATCCCTGTTCTCCCTCCTCACCTCTCTGTGCCTCCTCACAGCCGTCCAGAATGAGCGGGACCGGATCAGCACTCGAAGGTCAAGCTATGAGGACAGCAGCCTGCCCTCCATCAATGCGCTCCTGCAGGCGGAGGTCCTGTCCCGACAGGTACCGGGGTGATCCTGCCACCCACCCAGGGATCCCCCACACTACAGAGGAGCTCACCTCCTCCACCTCCATTCTCCCCAGCCAGGCCCTGGAGCAGCTGACGGGAGGGGCCTCAGATATTACAGAAGGGACACTGAGTCCGGTTTCACATGGCCCAGTTTGCAGCAAGGGCAGGAATCGAACCTGGCGCCCTGGGGCACTTTCTAATTCATCCTACTGCCTGCATCCCACAGGCCAAGCAGAGTCTTCACCTTCACTGAGGGCCTGCGATCAGCTCAGCTCCGAGAGAACAGAGCAGTGGCTCAGTGGAGAGAGGTGGCAAAGTGGGGCCCAGCCCTTCCCTTGCTGAGTGACCTTGGGCAAGTCACAGCACCTCTCTGAGCCATGGTTGCCTCATTGTCAGAAAAGGATGATGATTTTTTGCCCTGCTTCTCCTCTAAGGCTGACAGACTCCTTGGGGCTCTAAAGCTGACAGAGGAGGGGGCAGGGGGCAGGTAACAGGTGAAGGCACAGAGGGAGCCCTTCTCCCTCATCCCTGCCTCCTCCCTCCCTCCGTTTTTACCCTGAGCTTCCTTCAGAGCTGGAGGGCACCCACTATCCAGCCCCCTCCCCACATCTGATTCCAGGGAGGGGGCTCTGTGCAGGGGACAGAGAGTGCGGGAGGGCCCGGACATCTCCAGCATTTTCTTCCCTGTATCTCTCGAAGATCACCTCCCCCGTCTCCGGGATCAACGGCGACATTCGGGCGAAGAAGATTGCCAGCATCGCAGATGTGTGTGAGTCCATGAAGGAGCAGCTGCTGGTTCTCGTTGAGTGGGCCAAGTACATCCCAGCTTTCTGCGAGCTCCCCCTGGACGACCAGGTGAGGATGGGCGTGGATGGTGGGCAGTAGTGGGCAGTGGGCGGGGCAGCCAGGGGGCTGCTGGCCCACCTGGGATATAGCCGTGGACTGGCTTGATTTTATTTTATTTAACAAAATATGTAGTGCACACACGTGTCTGAAACTTTAAATCACCTTACAAATATTAACTCAGTTAGCTCCTCCAACAACTCTATGAGGTAGGTACTAAGGTACTATTATTACTGCCATCTCATAGGTGAGGAGATTGGGGCACAGAGAGGTTAAGTAACCTGCTCAAGGTCACATAGCTACTATCCAGCATAGCTGGGATTAGAACCTGGCAGGAAGCTCCAAAGTCCAAGCTCCTGACCATTGTACCTGAGGCTCTCCCAGGGGGATGTTGACAGGGACCCTAGGACAGGGATCAGGAGATTTTGGCTTAAGCTATGGCTCTAAGACTGGTTGTCTGCCTAATCCTGGGCAAATGAGTTCCTCTCTCTGAGCCTCAGTGTTCTCTTATCTGTAAAGTGGAAATGATAATATCCACTTTAGAGTGTGGTTGGGAGGATTGAGGACATTGGTGTCTGAAAAGTACAAAAATCAGGTGATGGGGCAAGCTGCACAGTGGCCAGACCAGAGCTGGTCTCCCTAAACATTAGTTTCTTCCTTGTTTCCCACCAAAACGATTGAACTCAGCATCGTGTTTCCCACCAAAACAATTGAACTGAGCATCATATTTCCCACCGTACATTTTTTTGGAATACTGAAATGTCCCTAGGGGGAAGAAAGGGTTGAAGGAAGGTGGCGTGTGTCTGAGGACAGATGAATTTCGGAGATGCCACCTATGAAGCTCCTGCCCAGAGCACCCCTGGGCCTCCAAAGAGATGTTACCCATCTGGGGAAGAGGAGCTGGGCTGGGCCACCTTCTCAGCTTCGGAGACAGACTCTGGTGCATTCGCTTACCCGTTTCGCACCTTTGCATAAGACACTGACAATGCATGTGAGTCTGTGAAAGCTTCTGAGAAGTCTCGTCCAGGCAGTTGTTTGACTTTGCAGAGGCCGAGGCTTCTCAAACTCCTTCGGCAAGATTCTCCTGGAACACCTATTAATACTGCACATTGGGACACTGTGAAAACGCTGGTTTGGCTTGTCCCCAGCCTCATACAGGGGCTGGACCCGGGGCCCTCTTCCATGGTTCCTCCTTCCATTAGCAGAGTCGACAGGGCAAGGATCTTGGACAATCCGCCCCTACCCTCTCCCCTGTTCCTTGTGCTCTGGCCCCAGTCCCCTCTGCTGGAGTCTCTACATTAATGTTTAATCCCTCCTGTTCCTTCCCAGGGGCTTAGCAGGGCAACAAGATACCCCCAACCTGAGCAATTGTTAACCTCGATTTCCCACCCAAACCTCCCTGGCTGGGGCTCAGAGCATTCTCAGAGAGCAATGATGGGTGGCCAATAACACAGGACAATCATTAACACACCACCCCGACCTCCCGGCCCACCCCCCAGAACAGCTGCCATATCAGGGGGTTGAACCTGGGATCAGAAGGGTTCCCAGCTCCCCATTCCTGGTATATGAGGAGCCCAGCTTGCCCAATGCAGGTGGGGCATCCCTGGGAAAGTCGGGGGCATTGTCCTCCAAAGGGCTTCCCAATTTTGTTGACATTGCCCCAGAAACTAGATTCCCAGTTGGTGTGCTTCTTGGGCCTGGATACAATTGCAGAAAGAGATTGGGGCTTAGAGAGAGACAGAAATTTGCCTGAAGTCACAGAGCAAGTTAGCGACAGAACTGGGATTCAAATCCAGGTCTTCCGCTTCGCGATGTGAAGGCCACTGGAGTGACTGATGAAAGACTTGCACAGTGCCCAGTGCGCAGGAGGCGCTTGGCAATCAGCATCCTCGGCCTCCCTCCATACTGGTCATGGAAAGTGGATTTTCCCTCCCAGGCAGTTTCCTCTTTTTCTGTTTTCCTCACAGGTTTCTATCCATGGGGAATAGAAGGGGCAAGGACAAGTGGCTGCCCAGGAGCAGCTAGAGCTAGAGAGGAAGTCAAGATGT
TTGAACGGATCCCTCTGTCTCTGAGAGGAACACAGACTGCAGGCGCAAGGCAGAAGCAGAGCCCAGGAGGAGGCTGATCTAATCCAGGAGAGACAGCGGGCCTGGGAGCAGGGAGGGAGCAGCAGGTCTGTTTGTCAGGATCACGACAGCACTGGGGTGTGAGGGGAAGCCAAGGAAGGTGGCCAGGCTTGATGCCAGTCCCTGAGACGAGAAAGAGTGCAGGGAGCCGGCTGGCAGGGAAATGCCTACGGGTAGGGAAACTGAGCCCCAGAGAGAGGCTGCGATTGCCACCGGCACACAGAGTGGCAGGTTCCAGACAGGAAGCCGGGTCTGGTGCAGCTTCAACCTCCCTCCTTTCTGAATCAGCCAAGCCTCATTCCACAGTGAGGCCTCTTGGACTCCAAGGGCTATCCCATCCACTGTCGGGATGGTGGAAGGATCATCTTCTATCTCAGGCCAGGACTGACCCAGATGGGAGCAGGCAGTGGAGCCTGGGGCCCCGGTGGGCGTAGGCTCCAGATCCCTCAGTGCCTGGAACAGAGCAGCAGTGGGAGGGAGGGAGACAGCGCCTGGCCTTGCTGATGCTGAGGTTAGTCTGGAGTACATGCAGCTCCTGCTGATGGACAAAACCATCAAGGCAGTTGGAGCCCCCAGATCCTCTTGTTCAGGAATCCCCAGGCCATCTCCTTGTCACCCAGAGTAATTTGTTTTGCTTGCTTTACTCACTTTCATTTGGAAAGAAAGGGACCCTTTTGTAGACCAGAGCTTGAACATCTTTAAGCTAGTCAGATCCCCTCCTCAATGCTCAAGACCAATTTTAAACCCATAGCCGAGTCTTCACTGTCTTGCGCGCCCCTGCTGATGGGTGGATCACTCTTATAGCCTCTCCATTGTGTTGGGGGCAGTTGTGATATGTGGAAAGTTCTTCCACCAGCTGAGTTAGAGGCCATCTCCCCTCATTCCACATGCTGATGTGGGCCTGTTCTCTGGACACCCCCCACCTCCTGCTCCCACTCCTCATCAGTCACAGACACCCCCACCCCCTACTCCATCCCTGTTCTCCCTCCTCACCTCTCTGTGCCTCCTCACAGCCGTCCAGAATGAGCGGGACCGGATCAGCACTCGAAGGTCAAGCTATGAGGACAGCAGCCTGCCCTCCATCAATGCGCTCCTGCAGGCGGAGGTCCTGTCCCGACAGGTACCGGGGTGATCCTGCCACCCACCCAGGGATCCCCCACACTACAGAGGAGCTCACCTCCTCCACCTCCATTCTCCCCAGCCAGGCCCTGGAGCAGCTGACGGGAGGGGCCTCAGATATTACAGAAGGGACACTGAGTCCGGTTTCACATGGCCCAGTTTGCAGCAAGGGCAGGAATCGAACCTGGCGCCCTGGGGCACTTTCTAATTCATCCTACTGCCTGCATCCCACAGGCCAAGCAGAGTCTTCACCTTCACTGAGGGCCTGCGATCAGCTCAGCTCCGAGAGAACAGAGCAGTGGCTCAGTGGAGAGAGGTGGCAAAGTGGGGCCCAGCCCTTCCCTTGCTGAGTGACCTTGGGCAAGTCACAGCACCTCTCTGAGCCATGGTTGCCTCATTGTCAGAAAAGGATGATGATTTTTTGCCCTGCTTCTCCTCTAAGGCTGACAGACTCCTTGGGGCTCTAAAGCTGACAGAGGAGGGGGCAGGGGGCAGGTAACAGGTGAAGGCACAGAGGGAGCCCTTCTCCCTCATCCCTGCCTCCTCCCTCCCTCCGTTTTTACCCTGAGCTTCCTTCAGAGCTGGAGGGCACCCACTATCCAGCCCCCTCCCCACATCTGATTCCAGGGAGGGGGCTCTGTGCAGGGGACAGAGAGTGCGGGAGGGCCCGGACATCTCCAGCATTTTCTTCCCTGTATCTCTCGAAGATCACCTCCCCCGTCTCCGGGATCAACGGCGACATTCGGGCGAAGAAGATTGCCAGCATCGCAGATGTGTGTGAGTCCATGAAGGAGCAGCTGCTGGTTCTCGTTGAGTGGGCCAAGTACATCCCAGCTTTCTGCGAGCTCCCCCTGGGCGTGGATGGTGGGCAGTAGTGGGCAGTGGGCGGGGCAGCCAGGGGGCTGCTGGCCCACCTGGGATATAGCCGTGGACTGGCTTGATTTTATTTTATTTAACAAAATATGTAGTGCACACACGTGTCTGAAACTTTAAATCACCTTACAAATATTAACTCAGTTAGCTCCTCCAACAACTCTATGAGGTAGGTACTAAGGTACTATTATTACTGCCATCTCATAGGTGAGGAGATTGGGGCACAGAGAGGTTAAGTAACCTGCTCAAGGTCACATAGCTACTATCCAGCATAGCTGGGATTAGAACCTGGCAGGAAGCTCCAAAGTCCAAGCTCCTGACCATTGTACCTGAGGCTCTCCCAGGGGGATGTTGACAGGGACCCTAGGACAGGGATCAGGAGATTTTGGCTTAAGCTATGGCTCTAAGACTGGTTGTCTGCCTAATCCTGGGCAAATGAGTTCCTCTCTCTGAGCCTCAGTGTTCTCTTATCTGTAAAGTGGAAATGATAATATCCACTTTAGAGTGTGGTTGGGAGGATTGAGGACATTGGTGTCTGAAAAGTACAAAAATCAGGTGATGGGGCAAGCTGCACAGTGGCCAGACCAGAGCTGGTCTCCCTAAACATTAGTTTCTTCCTTGTTTCCCACCAAAACGATTGAACTCAGCATCGTGTTTCCCACCAAAACAATTGAACTGAGCATCATATTTCCCACCGTACATTTTTTTGGAATACTGAAATGTCCCTAGGGGGAAGAAAGGGTTGAAGGAAGGTGGCGTGTGTCTGAGGACAGATGAATTTCGGAGATGCCACCTATGAAGCTCCTGCCCAGAGCACCCCTGGGCCTCCAAAGAGATGTTACCCATCTGGGGAAGAGGAGCTGGGCTGGGCCACCTTCTCAGCTTCGGAGACAGACTCTGGTGCATTCGCTTACCCGTTTCGCACCTTTGCATAAGACACTGACAATGCATGTGAGTCTGTGAAAGCTTCTGAGAAGTCTCGTCCAGGCAGTTGTTTGACTTTGCAGAGGCCGAGGCTTCTCAAACTCCTTCGGCAAGATTCTCCTGGAACACCTATTAATACTGCACATTGGGACACTGTGAAAACGCTGGTTTGGCTTGTCCCCAGCCTCATACAGGGGCTGGACCCGGGGCCCTCTTCCATGGTTCCTCCTTCCATTAGCAGAGTCGACAGGGCAAGGATCTTGGACAATCCGCCCCTACCCTCTCCCCTGTTCCTTGTGCTCTGGCCCCAGTCCCCTCTGCTGGAGTCTCTACATTAATGTTTAATCCCTCCTGTTCCTTCCCAGGGGCTTAGCAGGGCAACAAGATACCCCCAACCTGAGCAATTGTTAACCTCGATTTCCCACCCAAACCTCCCTGGCTGGGGCTCAGAGCATTCTCAGAGAGCAATGATGGGTGGCCAATAACACAGGACAATCATTAACACACCACCCCGACCTCCCGGCCCACCCCCCAGAACAGCTGCCATATCAGGGGGTTGAACCTGGGATCAGAAGGGTTCCCAGCTCCCCATTCCTGGTATATGAGGAGCCCAGCTTGCCCAATGCAGGTGGGGCATCCCTGGGAAAGTCGGGGGCATTGTCCTCCAAAGGGCTTCCCAATTTTGTTGACATTGCCCCAGAAACTAGATTCCCAGTTGGTGTGCTTCTTGGGCCTGGATACAATTGCAGAAAGAGATTGGGGCTTAGAGAGAGACAGAAATTTGCCTGAAGTCACAGAGCAAGTTAGCGACAGAACTGGGATTCAAATCCAGGTCTTCCGCTTCGCGATGTGAAGGCCACTGGAGTGACTGATGAAAGACTTGCACAGTGCCCAGTGCGCAGGAGGCGCTTGGCAATCAGCATCCTCGGCCTCCCTCCATACTGGTCATGGAAAGTGGATTTTCCCTCCCAGGCAGTTTCCTCTTTTTCTGTTTTCCTCACAGGTTTCTATCCATGGGGAATAGAAGGGGCAAGGACAAGTGGCTGCCCAGGAGCAGCTAGAGCTAGAGAGGAAGTCAAGATGTNNNNNNNNNNNNNNNNNN
pathogenic
313,746
Located at chromosome 20 position 44418422, the variant affecting gene HNF4A (hepatocyte nuclear factor 4 alpha)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['Maturity-onset_diabetes_of_the_young_type_1', 'Monogenic_diabetes']
GGGCTTAGAGAGAGACAGAAATTTGCCTGAAGTCACAGAGCAAGTTAGCGACAGAACTGGGATTCAAATCCAGGTCTTCCGCTTCGCGATGTGAAGGCCACTGGAGTGACTGATGAAAGACTTGCACAGTGCCCAGTGCGCAGGAGGCGCTTGGCAATCAGCATCCTCGGCCTCCCTCCATACTGGTCATGGAAAGTGGATTTTCCCTCCCAGGCAGTTTCCTCTTTTTCTGTTTTCCTCACAGGTTTCTATCCATGGGGAATAGAAGGGGCAAGGACAAGTGGCTGCCCAGGAGCAGCTAGAGCTAGAGAGGAAGTCAAGATGTTTGCTCATTCATTCATTCATTTCCCCTTTCCTTCCTTCATTCAAATATTTATTGAAGGCTTATTTTGTGCCAAATATCTTCAGACAAATGCCTTCTTTCCTCTAACAACAATTTCACCTCCTTAGAGGCCTTCTCTGACCTCCCCATCTAACGTAGCCATTCTTGCCCCATTGCTCTCACCATCCTTTCCACTCCCCTCCCTCCCTCCTTCCCTTCCTCCCACCTTTTCTCCTTCCTTCTTTCCTTTATGCTGTGATCACCCTGTGTCCTCTGTACTTATTTGTTCTCTACTATCTGTTCATCCTCTCTCCTATAAATGTTAGTTCGATGAGATTAGAGACCTTGTCTCTCGTTTTTAAACATTGTGCCTCCATTGTCTTAAAAAGTGTCTGGCATTTAGTAGGCATTTAGGATTTGATAACTGAAAGAATGAACAATCAAATTAATGAACAAACAAAGGATTTTAACCTTCTAGTTTGGCTTGCTATGGAACCTCCAAACTCCCTAACCCAACCTTGAAGATGAGAAGATGAGATCCTTGAGGCTACCAGCCTGGTGCTGTTTTGTTTCAAGCCATCCTTTGGTCCTCAGGCAAGCACTAAAGCAGATGGCTCTCAGTGGGCTGGCTATGTCCTTCTGTGAGCTTGCTGGGCCCCTACCTATGACTCCAGTCTTAGAAGTCTTGCCTTGTACCCCCTGCAGAGAATGGTTTCATCAAGCTGATTCTCTGCCAGGGGCCAGTGCTCATACATTTGCTCTGAGAAGGACCAGCCCTGAGACCTAACATCCACATCCAAGTTCTTGTAATGCCCTCTCAGAATCCTGGAGTCCTGCAATGTCGATCCCTGGAGGGATCTGCCAGACCAATGATTTCCCAAACAGAATTGCACTTCAGAGTCAACTATGGAGCTTTTTAAACACAGATCCCTGGGCCCACCCTAAACATACAAAATCAGGATCAGAATCTCAGGGCCTAAGAATCTGTATTTTCAGGCCGGGCGCAGTGGTTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGTTGGGCTGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAGTCTCAGCTACTCTGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCGGAAGCTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAATAGAATCTGTATTTTTACAAAGCACCCTTCATAATTCTCCATAGCTGGTCCATGGGTGGGAATTTGGGACCCACAGTTTTGGAACTTTTTGGGATCATAGACCTTTTTGAGAATCTCAAAAAAGAAAAAAAAAGCACACAGAATGTTGCTTACAGTTTCATCAGGCACACAGAAGAGGCCCAGCACGAAGCAGTTTCTTGCCCAAGGACACAGCAGTTCAAGGACAGAGTCAGCGCGAGGTCTCTCAGCTCTGAGCACATGTTCTTTCCCCTTCCAGGTTTCTAGTTTTATGGGTAGTAGTTTTATGATGCCCATTTCACAGTTCAGGCAGGTAGAGGCAGAGGGGAGCATTAAGCTGACTTGCCCAGCGTCACTGAGTTGGCTACGGGCAGCCTTCCCAAGGGTACAGATGGCAAACACTGTTCCTTCTCTCTTTCAGGTGGCCCTGCTCAGAGCCCATGCTGGCGAGCACCTGCTGCTCGGAGCCACCAAGAGATCCATGGTGTTCAAGGACGTGCTGCTCCTAGGTGAGGCGGCTGCCTGCCCTGGCCAGGGCTCCAGGGAGGGTATGCCTAGCATGGCACTCACCCAGGCAAGGAGATTCACATGGTGGCATGCAAGGGTGAGGGAGACTAGTCAGGAGTGGCCCTGTCCTCAGGCTTGCATTAGAGGGCTCCAGGACTCAGTTTTCAACTGGGTACCCCACTCAGATGCAAGGAAATGTGGATGCAAGTCACCAAATTCCCAGCATTGAAGTCAGAGCACGATCAGGGTTATCCCTGGAATTACCTGTGCATCCTTTTTTCTTTTGACAGAGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGATGTGATCTCGGCTCACTTCAGCCTCCACCCGCCACGTTCAAGCAATTCTCCTGCCTCACCCTCCAGAGTTGCTGGGACCACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAATAATCCACCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTACCTGTGCATTCTGATGTTCTTTCTGGAGTAGGAGCAAGAGGTGGTTAAGAATGGCACAAAGCCCCAGCCCGCGTCACCTGTGCCTTCATGGCATAGTTATTATTTTAAACGCTTGTACAGCACACACTGTGTGCCAGGGACTGTGCTCACTGCTTTGCAAACACTACCTATTTTAATATAACAATGCTATGAGGGAAGCTCGATTATTTATCCTCATCTTATAGATAAGAAAACTGAGGCACAGAGAGGTTAAGTAACTTATCCAACTATAACCAGCTATCAGGGGCAGAGCCATTTAAGCAGGGCAGTGCAGTTCCAGAATCTGGTCCTTTAACCTTGATGCTTTGGTGCCTATCAGGTGACCTTTGAATGTCATCGATCTTGTGAGTCATGTTGGTAAATGGAGCTTGGGTCATGTGAAAGAGGTCCTAGAAAGCCAAGTTCCAAGCTCAGCCGGATGACTCAAGGCAGCTTATCTTCTGAATCTGGGCCTCAGCTTCCTTACCTGTGAAATGGGAGTCACCATCCCTGCAGGTCCTCCTCCCACAGGCACCAGCTATCTTGCCAACTTAAAAGCCAAAACTAGAGGAGAGGGGTCAACCCAAGGTGACTTCCCATCCTCCCTCCCTCCCAACCCTTCCAGGCAATGACTACATTGTCCCTCGGCACTGCCCGGAGCTGGCGGAGATGAGCCGGGTGTCCATACGCATCCTTGACGAGCTGGTGCTGCCCTTCCAGGAGCTGCAGATCGATGACAATGAGTATGCCTACCTCAAAGCCATCATCTTCTTTGACCCAGGTACAGTGCACACCTCCTAAGCCATCCCTGACTCTCTCTCCAGAACGCTCTGCCAGACTTCTCCTATTGGGTTCTGTACACTGAGTTCACAGCCTCATCTCATGTTAACGACAGCCAGGAGAGGCCGTTTTCATTTAACAGATGAGGCAAGTCAAGATTTGAAGAGACAATATGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGGGTTCAAGATGAGCCTGGCTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCCCGCCACTGCATTCCAGCCTGGGTGACTCCATCTCAAAAAAACAAAAACAAAGGGAGGATATGACTTGACAGGGCACCCTGACTCCAAAGGCCTGGGCTTTCCCTTCTTTTACTTCTTCCCTCCATCCTTCTTTCTCTTTACTTCCCATCTTCCTCTTTTCTTTCATATTTGCTTCTTTTCCT
GGGCTTAGAGAGAGACAGAAATTTGCCTGAAGTCACAGAGCAAGTTAGCGACAGAACTGGGATTCAAATCCAGGTCTTCCGCTTCGCGATGTGAAGGCCACTGGAGTGACTGATGAAAGACTTGCACAGTGCCCAGTGCGCAGGAGGCGCTTGGCAATCAGCATCCTCGGCCTCCCTCCATACTGGTCATGGAAAGTGGATTTTCCCTCCCAGGCAGTTTCCTCTTTTTCTGTTTTCCTCACAGGTTTCTATCCATGGGGAATAGAAGGGGCAAGGACAAGTGGCTGCCCAGGAGCAGCTAGAGCTAGAGAGGAAGTCAAGATGTTTGCTCATTCATTCATTCATTTCCCCTTTCCTTCCTTCATTCAAATATTTATTGAAGGCTTATTTTGTGCCAAATATCTTCAGACAAATGCCTTCTTTCCTCTAACAACAATTTCACCTCCTTAGAGGCCTTCTCTGACCTCCCCATCTAACGTAGCCATTCTTGCCCCATTGCTCTCACCATCCTTTCCACTCCCCTCCCTCCCTCCTTCCCTTCCTCCCACCTTTTCTCCTTCCTTCTTTCCTTTATGCTGTGATCACCCTGTGTCCTCTGTACTTATTTGTTCTCTACTATCTGTTCATCCTCTCTCCTATAAATGTTAGTTCGATGAGATTAGAGACCTTGTCTCTCGTTTTTAAACATTGTGCCTCCATTGTCTTAAAAAGTGTCTGGCATTTAGTAGGCATTTAGGATTTGATAACTGAAAGAATGAACAATCAAATTAATGAACAAACAAAGGATTTTAACCTTCTAGTTTGGCTTGCTATGGAACCTCCAAACTCCCTAACCCAACCTTGAAGATGAGAAGATGAGATCCTTGAGGCTACCAGCCTGGTGCTGTTTTGTTTCAAGCCATCCTTTGGTCCTCAGGCAAGCACTAAAGCAGATGGCTCTCAGTGGGCTGGCTATGTCCTTCTGTGAGCTTGCTGGGCCCCTACCTATGACTCCAGTCTTAGAAGTCTTGCCTTGTACCCCCTGCAGAGAATGGTTTCATCAAGCTGATTCTCTGCCAGGGGCCAGTGCTCATACATTTGCTCTGAGAAGGACCAGCCCTGAGACCTAACATCCACATCCAAGTTCTTGTAATGCCCTCTCAGAATCCTGGAGTCCTGCAATGTCGATCCCTGGAGGGATCTGCCAGACCAATGATTTCCCAAACAGAATTGCACTTCAGAGTCAACTATGGAGCTTTTTAAACACAGATCCCTGGGCCCACCCTAAACATACAAAATCAGGATCAGAATCTCAGGGCCTAAGAATCTGTATTTTCAGGCCGGGCGCAGTGGTTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGTTGGGCTGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAGTCTCAGCTACTCTGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCGGAAGCTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAATAGAATCTGTATTTTTACAAAGCACCCTTCATAATTCTCCATAGCTGGTCCATGGGTGGGAATTTGGGACCCACAGTTTTGGAACTTTTTGGGATCATAGACCTTTTTGAGAATCTCAAAAAAGAAAAAAAAAGCACACAGAATGTTGCTTACAGTTTCATCAGGCACACAGAAGAGGCCCAGCACGAAGCAGTTTCTTGCCCAAGGACACAGCAGTTCAAGGACAGAGTCAGCGCGAGGTCTCTCAGCTCTGAGCACATGTTCTTTCCCCTTCCAGGTTTCTAGTTTTATGGGTAGTAGTTTTATGATGCCCATTTCACAGTTCAGGCAGGTAGAGGCAGAGGGGAGCATTAAGCTGACTTGCCCAGCGTCACTGAGTTGGCTACGGGCAGCCTTCCCAAGGGTACAGATGGCAAACACTGTTCCTTCTCTCTTTCGGTGGCCCTGCTCAGAGCCCATGCTGGCGAGCACCTGCTGCTCGGAGCCACCAAGAGATCCATGGTGTTCAAGGACGTGCTGCTCCTAGGTGAGGCGGCTGCCTGCCCTGGCCAGGGCTCCAGGGAGGGTATGCCTAGCATGGCACTCACCCAGGCAAGGAGATTCACATGGTGGCATGCAAGGGTGAGGGAGACTAGTCAGGAGTGGCCCTGTCCTCAGGCTTGCATTAGAGGGCTCCAGGACTCAGTTTTCAACTGGGTACCCCACTCAGATGCAAGGAAATGTGGATGCAAGTCACCAAATTCCCAGCATTGAAGTCAGAGCACGATCAGGGTTATCCCTGGAATTACCTGTGCATCCTTTTTTCTTTTGACAGAGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGATGTGATCTCGGCTCACTTCAGCCTCCACCCGCCACGTTCAAGCAATTCTCCTGCCTCACCCTCCAGAGTTGCTGGGACCACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAATAATCCACCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTACCTGTGCATTCTGATGTTCTTTCTGGAGTAGGAGCAAGAGGTGGTTAAGAATGGCACAAAGCCCCAGCCCGCGTCACCTGTGCCTTCATGGCATAGTTATTATTTTAAACGCTTGTACAGCACACACTGTGTGCCAGGGACTGTGCTCACTGCTTTGCAAACACTACCTATTTTAATATAACAATGCTATGAGGGAAGCTCGATTATTTATCCTCATCTTATAGATAAGAAAACTGAGGCACAGAGAGGTTAAGTAACTTATCCAACTATAACCAGCTATCAGGGGCAGAGCCATTTAAGCAGGGCAGTGCAGTTCCAGAATCTGGTCCTTTAACCTTGATGCTTTGGTGCCTATCAGGTGACCTTTGAATGTCATCGATCTTGTGAGTCATGTTGGTAAATGGAGCTTGGGTCATGTGAAAGAGGTCCTAGAAAGCCAAGTTCCAAGCTCAGCCGGATGACTCAAGGCAGCTTATCTTCTGAATCTGGGCCTCAGCTTCCTTACCTGTGAAATGGGAGTCACCATCCCTGCAGGTCCTCCTCCCACAGGCACCAGCTATCTTGCCAACTTAAAAGCCAAAACTAGAGGAGAGGGGTCAACCCAAGGTGACTTCCCATCCTCCCTCCCTCCCAACCCTTCCAGGCAATGACTACATTGTCCCTCGGCACTGCCCGGAGCTGGCGGAGATGAGCCGGGTGTCCATACGCATCCTTGACGAGCTGGTGCTGCCCTTCCAGGAGCTGCAGATCGATGACAATGAGTATGCCTACCTCAAAGCCATCATCTTCTTTGACCCAGGTACAGTGCACACCTCCTAAGCCATCCCTGACTCTCTCTCCAGAACGCTCTGCCAGACTTCTCCTATTGGGTTCTGTACACTGAGTTCACAGCCTCATCTCATGTTAACGACAGCCAGGAGAGGCCGTTTTCATTTAACAGATGAGGCAAGTCAAGATTTGAAGAGACAATATGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGGGTTCAAGATGAGCCTGGCTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCCCGCCACTGCATTCCAGCCTGGGTGACTCCATCTCAAAAAAACAAAAACAAAGGGAGGATATGACTTGACAGGGCACCCTGACTCCAAAGGCCTGGGCTTTCCCTTCTTTTACTTCTTCCCTCCATCCTTCTTTCTCTTTACTTCCCATCTTCCTCTTTTCTTTCATATTTGCTTCTTTTCCTN
pathogenic
313,752
Mutation at chromosome 20, position 44418502, within HNF4A (hepatocyte nuclear factor 4 alpha): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Maturity-onset_diabetes_of_the_young_type_1', 'Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes']
GCTTCGCGATGTGAAGGCCACTGGAGTGACTGATGAAAGACTTGCACAGTGCCCAGTGCGCAGGAGGCGCTTGGCAATCAGCATCCTCGGCCTCCCTCCATACTGGTCATGGAAAGTGGATTTTCCCTCCCAGGCAGTTTCCTCTTTTTCTGTTTTCCTCACAGGTTTCTATCCATGGGGAATAGAAGGGGCAAGGACAAGTGGCTGCCCAGGAGCAGCTAGAGCTAGAGAGGAAGTCAAGATGTTTGCTCATTCATTCATTCATTTCCCCTTTCCTTCCTTCATTCAAATATTTATTGAAGGCTTATTTTGTGCCAAATATCTTCAGACAAATGCCTTCTTTCCTCTAACAACAATTTCACCTCCTTAGAGGCCTTCTCTGACCTCCCCATCTAACGTAGCCATTCTTGCCCCATTGCTCTCACCATCCTTTCCACTCCCCTCCCTCCCTCCTTCCCTTCCTCCCACCTTTTCTCCTTCCTTCTTTCCTTTATGCTGTGATCACCCTGTGTCCTCTGTACTTATTTGTTCTCTACTATCTGTTCATCCTCTCTCCTATAAATGTTAGTTCGATGAGATTAGAGACCTTGTCTCTCGTTTTTAAACATTGTGCCTCCATTGTCTTAAAAAGTGTCTGGCATTTAGTAGGCATTTAGGATTTGATAACTGAAAGAATGAACAATCAAATTAATGAACAAACAAAGGATTTTAACCTTCTAGTTTGGCTTGCTATGGAACCTCCAAACTCCCTAACCCAACCTTGAAGATGAGAAGATGAGATCCTTGAGGCTACCAGCCTGGTGCTGTTTTGTTTCAAGCCATCCTTTGGTCCTCAGGCAAGCACTAAAGCAGATGGCTCTCAGTGGGCTGGCTATGTCCTTCTGTGAGCTTGCTGGGCCCCTACCTATGACTCCAGTCTTAGAAGTCTTGCCTTGTACCCCCTGCAGAGAATGGTTTCATCAAGCTGATTCTCTGCCAGGGGCCAGTGCTCATACATTTGCTCTGAGAAGGACCAGCCCTGAGACCTAACATCCACATCCAAGTTCTTGTAATGCCCTCTCAGAATCCTGGAGTCCTGCAATGTCGATCCCTGGAGGGATCTGCCAGACCAATGATTTCCCAAACAGAATTGCACTTCAGAGTCAACTATGGAGCTTTTTAAACACAGATCCCTGGGCCCACCCTAAACATACAAAATCAGGATCAGAATCTCAGGGCCTAAGAATCTGTATTTTCAGGCCGGGCGCAGTGGTTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGTTGGGCTGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAGTCTCAGCTACTCTGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCGGAAGCTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAATAGAATCTGTATTTTTACAAAGCACCCTTCATAATTCTCCATAGCTGGTCCATGGGTGGGAATTTGGGACCCACAGTTTTGGAACTTTTTGGGATCATAGACCTTTTTGAGAATCTCAAAAAAGAAAAAAAAAGCACACAGAATGTTGCTTACAGTTTCATCAGGCACACAGAAGAGGCCCAGCACGAAGCAGTTTCTTGCCCAAGGACACAGCAGTTCAAGGACAGAGTCAGCGCGAGGTCTCTCAGCTCTGAGCACATGTTCTTTCCCCTTCCAGGTTTCTAGTTTTATGGGTAGTAGTTTTATGATGCCCATTTCACAGTTCAGGCAGGTAGAGGCAGAGGGGAGCATTAAGCTGACTTGCCCAGCGTCACTGAGTTGGCTACGGGCAGCCTTCCCAAGGGTACAGATGGCAAACACTGTTCCTTCTCTCTTTCAGGTGGCCCTGCTCAGAGCCCATGCTGGCGAGCACCTGCTGCTCGGAGCCACCAAGAGATCCATGGTGTTCAAGGACGTGCTGCTCCTAGGTGAGGCGGCTGCCTGCCCTGGCCAGGGCTCCAGGGAGGGTATGCCTAGCATGGCACTCACCCAGGCAAGGAGATTCACATGGTGGCATGCAAGGGTGAGGGAGACTAGTCAGGAGTGGCCCTGTCCTCAGGCTTGCATTAGAGGGCTCCAGGACTCAGTTTTCAACTGGGTACCCCACTCAGATGCAAGGAAATGTGGATGCAAGTCACCAAATTCCCAGCATTGAAGTCAGAGCACGATCAGGGTTATCCCTGGAATTACCTGTGCATCCTTTTTTCTTTTGACAGAGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGATGTGATCTCGGCTCACTTCAGCCTCCACCCGCCACGTTCAAGCAATTCTCCTGCCTCACCCTCCAGAGTTGCTGGGACCACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAATAATCCACCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTACCTGTGCATTCTGATGTTCTTTCTGGAGTAGGAGCAAGAGGTGGTTAAGAATGGCACAAAGCCCCAGCCCGCGTCACCTGTGCCTTCATGGCATAGTTATTATTTTAAACGCTTGTACAGCACACACTGTGTGCCAGGGACTGTGCTCACTGCTTTGCAAACACTACCTATTTTAATATAACAATGCTATGAGGGAAGCTCGATTATTTATCCTCATCTTATAGATAAGAAAACTGAGGCACAGAGAGGTTAAGTAACTTATCCAACTATAACCAGCTATCAGGGGCAGAGCCATTTAAGCAGGGCAGTGCAGTTCCAGAATCTGGTCCTTTAACCTTGATGCTTTGGTGCCTATCAGGTGACCTTTGAATGTCATCGATCTTGTGAGTCATGTTGGTAAATGGAGCTTGGGTCATGTGAAAGAGGTCCTAGAAAGCCAAGTTCCAAGCTCAGCCGGATGACTCAAGGCAGCTTATCTTCTGAATCTGGGCCTCAGCTTCCTTACCTGTGAAATGGGAGTCACCATCCCTGCAGGTCCTCCTCCCACAGGCACCAGCTATCTTGCCAACTTAAAAGCCAAAACTAGAGGAGAGGGGTCAACCCAAGGTGACTTCCCATCCTCCCTCCCTCCCAACCCTTCCAGGCAATGACTACATTGTCCCTCGGCACTGCCCGGAGCTGGCGGAGATGAGCCGGGTGTCCATACGCATCCTTGACGAGCTGGTGCTGCCCTTCCAGGAGCTGCAGATCGATGACAATGAGTATGCCTACCTCAAAGCCATCATCTTCTTTGACCCAGGTACAGTGCACACCTCCTAAGCCATCCCTGACTCTCTCTCCAGAACGCTCTGCCAGACTTCTCCTATTGGGTTCTGTACACTGAGTTCACAGCCTCATCTCATGTTAACGACAGCCAGGAGAGGCCGTTTTCATTTAACAGATGAGGCAAGTCAAGATTTGAAGAGACAATATGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGGGTTCAAGATGAGCCTGGCTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCCCGCCACTGCATTCCAGCCTGGGTGACTCCATCTCAAAAAAACAAAAACAAAGGGAGGATATGACTTGACAGGGCACCCTGACTCCAAAGGCCTGGGCTTTCCCTTCTTTTACTTCTTCCCTCCATCCTTCTTTCTCTTTACTTCCCATCTTCCTCTTTTCTTTCATATTTGCTTCTTTTCCTCAAAAAAATTTATCAAAATAATATCTAGAACCGGATGTGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGG
GCTTCGCGATGTGAAGGCCACTGGAGTGACTGATGAAAGACTTGCACAGTGCCCAGTGCGCAGGAGGCGCTTGGCAATCAGCATCCTCGGCCTCCCTCCATACTGGTCATGGAAAGTGGATTTTCCCTCCCAGGCAGTTTCCTCTTTTTCTGTTTTCCTCACAGGTTTCTATCCATGGGGAATAGAAGGGGCAAGGACAAGTGGCTGCCCAGGAGCAGCTAGAGCTAGAGAGGAAGTCAAGATGTTTGCTCATTCATTCATTCATTTCCCCTTTCCTTCCTTCATTCAAATATTTATTGAAGGCTTATTTTGTGCCAAATATCTTCAGACAAATGCCTTCTTTCCTCTAACAACAATTTCACCTCCTTAGAGGCCTTCTCTGACCTCCCCATCTAACGTAGCCATTCTTGCCCCATTGCTCTCACCATCCTTTCCACTCCCCTCCCTCCCTCCTTCCCTTCCTCCCACCTTTTCTCCTTCCTTCTTTCCTTTATGCTGTGATCACCCTGTGTCCTCTGTACTTATTTGTTCTCTACTATCTGTTCATCCTCTCTCCTATAAATGTTAGTTCGATGAGATTAGAGACCTTGTCTCTCGTTTTTAAACATTGTGCCTCCATTGTCTTAAAAAGTGTCTGGCATTTAGTAGGCATTTAGGATTTGATAACTGAAAGAATGAACAATCAAATTAATGAACAAACAAAGGATTTTAACCTTCTAGTTTGGCTTGCTATGGAACCTCCAAACTCCCTAACCCAACCTTGAAGATGAGAAGATGAGATCCTTGAGGCTACCAGCCTGGTGCTGTTTTGTTTCAAGCCATCCTTTGGTCCTCAGGCAAGCACTAAAGCAGATGGCTCTCAGTGGGCTGGCTATGTCCTTCTGTGAGCTTGCTGGGCCCCTACCTATGACTCCAGTCTTAGAAGTCTTGCCTTGTACCCCCTGCAGAGAATGGTTTCATCAAGCTGATTCTCTGCCAGGGGCCAGTGCTCATACATTTGCTCTGAGAAGGACCAGCCCTGAGACCTAACATCCACATCCAAGTTCTTGTAATGCCCTCTCAGAATCCTGGAGTCCTGCAATGTCGATCCCTGGAGGGATCTGCCAGACCAATGATTTCCCAAACAGAATTGCACTTCAGAGTCAACTATGGAGCTTTTTAAACACAGATCCCTGGGCCCACCCTAAACATACAAAATCAGGATCAGAATCTCAGGGCCTAAGAATCTGTATTTTCAGGCCGGGCGCAGTGGTTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGTTGGGCTGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAGTCTCAGCTACTCTGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCGGAAGCTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAATAGAATCTGTATTTTTACAAAGCACCCTTCATAATTCTCCATAGCTGGTCCATGGGTGGGAATTTGGGACCCACAGTTTTGGAACTTTTTGGGATCATAGACCTTTTTGAGAATCTCAAAAAAGAAAAAAAAAGCACACAGAATGTTGCTTACAGTTTCATCAGGCACACAGAAGAGGCCCAGCACGAAGCAGTTTCTTGCCCAAGGACACAGCAGTTCAAGGACAGAGTCAGCGCGAGGTCTCTCAGCTCTGAGCACATGTTCTTTCCCCTTCCAGGTTTCTAGTTTTATGGGTAGTAGTTTTATGATGCCCATTTCACAGTTCAGGCAGGTAGAGGCAGAGGGGAGCATTAAGCTGACTTGCCCAGCGTCACTGAGTTGGCTACGGGCAGCCTTCCCAAGGGTACAGATGGCAAACACTGTTCCTTCTCTCTTTCAGGTGGCCCTGCTCAGAGCCCATGCTGGCGAGCACCTGCTGCTCGGAGCCACCAAGAGATCCATGGTGTTCAAGGACGTTCAAGCTCCTAGGTGAGGCGGCTGCCTGCCCTGGCCAGGGCTCCAGGGAGGGTATGCCTAGCATGGCACTCACCCAGGCAAGGAGATTCACATGGTGGCATGCAAGGGTGAGGGAGACTAGTCAGGAGTGGCCCTGTCCTCAGGCTTGCATTAGAGGGCTCCAGGACTCAGTTTTCAACTGGGTACCCCACTCAGATGCAAGGAAATGTGGATGCAAGTCACCAAATTCCCAGCATTGAAGTCAGAGCACGATCAGGGTTATCCCTGGAATTACCTGTGCATCCTTTTTTCTTTTGACAGAGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGATGTGATCTCGGCTCACTTCAGCCTCCACCCGCCACGTTCAAGCAATTCTCCTGCCTCACCCTCCAGAGTTGCTGGGACCACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAATAATCCACCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTACCTGTGCATTCTGATGTTCTTTCTGGAGTAGGAGCAAGAGGTGGTTAAGAATGGCACAAAGCCCCAGCCCGCGTCACCTGTGCCTTCATGGCATAGTTATTATTTTAAACGCTTGTACAGCACACACTGTGTGCCAGGGACTGTGCTCACTGCTTTGCAAACACTACCTATTTTAATATAACAATGCTATGAGGGAAGCTCGATTATTTATCCTCATCTTATAGATAAGAAAACTGAGGCACAGAGAGGTTAAGTAACTTATCCAACTATAACCAGCTATCAGGGGCAGAGCCATTTAAGCAGGGCAGTGCAGTTCCAGAATCTGGTCCTTTAACCTTGATGCTTTGGTGCCTATCAGGTGACCTTTGAATGTCATCGATCTTGTGAGTCATGTTGGTAAATGGAGCTTGGGTCATGTGAAAGAGGTCCTAGAAAGCCAAGTTCCAAGCTCAGCCGGATGACTCAAGGCAGCTTATCTTCTGAATCTGGGCCTCAGCTTCCTTACCTGTGAAATGGGAGTCACCATCCCTGCAGGTCCTCCTCCCACAGGCACCAGCTATCTTGCCAACTTAAAAGCCAAAACTAGAGGAGAGGGGTCAACCCAAGGTGACTTCCCATCCTCCCTCCCTCCCAACCCTTCCAGGCAATGACTACATTGTCCCTCGGCACTGCCCGGAGCTGGCGGAGATGAGCCGGGTGTCCATACGCATCCTTGACGAGCTGGTGCTGCCCTTCCAGGAGCTGCAGATCGATGACAATGAGTATGCCTACCTCAAAGCCATCATCTTCTTTGACCCAGGTACAGTGCACACCTCCTAAGCCATCCCTGACTCTCTCTCCAGAACGCTCTGCCAGACTTCTCCTATTGGGTTCTGTACACTGAGTTCACAGCCTCATCTCATGTTAACGACAGCCAGGAGAGGCCGTTTTCATTTAACAGATGAGGCAAGTCAAGATTTGAAGAGACAATATGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGGGTTCAAGATGAGCCTGGCTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCCCGCCACTGCATTCCAGCCTGGGTGACTCCATCTCAAAAAAACAAAAACAAAGGGAGGATATGACTTGACAGGGCACCCTGACTCCAAAGGCCTGGGCTTTCCCTTCTTTTACTTCTTCCCTCCATCCTTCTTTCTCTTTACTTCCCATCTTCCTCTTTTCTTTCATATTTGCTTCTTTTCCTCAAAAAAATTTATCAAAATAATATCTAGAACCGGATGTGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAG
pathogenic
313,755
Variant chromosome 20, position 44419771, gene HNF4A (hepatocyte nuclear factor 4 alpha): benign or pathogenic? Disease(s)?
pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes']
AGCACTTTGGGAGGCTGAGTTGGGCTGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAGTCTCAGCTACTCTGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCGGAAGCTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAATAGAATCTGTATTTTTACAAAGCACCCTTCATAATTCTCCATAGCTGGTCCATGGGTGGGAATTTGGGACCCACAGTTTTGGAACTTTTTGGGATCATAGACCTTTTTGAGAATCTCAAAAAAGAAAAAAAAAGCACACAGAATGTTGCTTACAGTTTCATCAGGCACACAGAAGAGGCCCAGCACGAAGCAGTTTCTTGCCCAAGGACACAGCAGTTCAAGGACAGAGTCAGCGCGAGGTCTCTCAGCTCTGAGCACATGTTCTTTCCCCTTCCAGGTTTCTAGTTTTATGGGTAGTAGTTTTATGATGCCCATTTCACAGTTCAGGCAGGTAGAGGCAGAGGGGAGCATTAAGCTGACTTGCCCAGCGTCACTGAGTTGGCTACGGGCAGCCTTCCCAAGGGTACAGATGGCAAACACTGTTCCTTCTCTCTTTCAGGTGGCCCTGCTCAGAGCCCATGCTGGCGAGCACCTGCTGCTCGGAGCCACCAAGAGATCCATGGTGTTCAAGGACGTGCTGCTCCTAGGTGAGGCGGCTGCCTGCCCTGGCCAGGGCTCCAGGGAGGGTATGCCTAGCATGGCACTCACCCAGGCAAGGAGATTCACATGGTGGCATGCAAGGGTGAGGGAGACTAGTCAGGAGTGGCCCTGTCCTCAGGCTTGCATTAGAGGGCTCCAGGACTCAGTTTTCAACTGGGTACCCCACTCAGATGCAAGGAAATGTGGATGCAAGTCACCAAATTCCCAGCATTGAAGTCAGAGCACGATCAGGGTTATCCCTGGAATTACCTGTGCATCCTTTTTTCTTTTGACAGAGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGATGTGATCTCGGCTCACTTCAGCCTCCACCCGCCACGTTCAAGCAATTCTCCTGCCTCACCCTCCAGAGTTGCTGGGACCACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAATAATCCACCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTACCTGTGCATTCTGATGTTCTTTCTGGAGTAGGAGCAAGAGGTGGTTAAGAATGGCACAAAGCCCCAGCCCGCGTCACCTGTGCCTTCATGGCATAGTTATTATTTTAAACGCTTGTACAGCACACACTGTGTGCCAGGGACTGTGCTCACTGCTTTGCAAACACTACCTATTTTAATATAACAATGCTATGAGGGAAGCTCGATTATTTATCCTCATCTTATAGATAAGAAAACTGAGGCACAGAGAGGTTAAGTAACTTATCCAACTATAACCAGCTATCAGGGGCAGAGCCATTTAAGCAGGGCAGTGCAGTTCCAGAATCTGGTCCTTTAACCTTGATGCTTTGGTGCCTATCAGGTGACCTTTGAATGTCATCGATCTTGTGAGTCATGTTGGTAAATGGAGCTTGGGTCATGTGAAAGAGGTCCTAGAAAGCCAAGTTCCAAGCTCAGCCGGATGACTCAAGGCAGCTTATCTTCTGAATCTGGGCCTCAGCTTCCTTACCTGTGAAATGGGAGTCACCATCCCTGCAGGTCCTCCTCCCACAGGCACCAGCTATCTTGCCAACTTAAAAGCCAAAACTAGAGGAGAGGGGTCAACCCAAGGTGACTTCCCATCCTCCCTCCCTCCCAACCCTTCCAGGCAATGACTACATTGTCCCTCGGCACTGCCCGGAGCTGGCGGAGATGAGCCGGGTGTCCATACGCATCCTTGACGAGCTGGTGCTGCCCTTCCAGGAGCTGCAGATCGATGACAATGAGTATGCCTACCTCAAAGCCATCATCTTCTTTGACCCAGGTACAGTGCACACCTCCTAAGCCATCCCTGACTCTCTCTCCAGAACGCTCTGCCAGACTTCTCCTATTGGGTTCTGTACACTGAGTTCACAGCCTCATCTCATGTTAACGACAGCCAGGAGAGGCCGTTTTCATTTAACAGATGAGGCAAGTCAAGATTTGAAGAGACAATATGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGGGTTCAAGATGAGCCTGGCTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCCCGCCACTGCATTCCAGCCTGGGTGACTCCATCTCAAAAAAACAAAAACAAAGGGAGGATATGACTTGACAGGGCACCCTGACTCCAAAGGCCTGGGCTTTCCCTTCTTTTACTTCTTCCCTCCATCCTTCTTTCTCTTTACTTCCCATCTTCCTCTTTTCTTTCATATTTGCTTCTTTTCCTCAAAAAAATTTATCAAAATAATATCTAGAACCGGATGTGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGAGGATCACTTCAGGCCAGGAGTTCGAGGCCAGCCTGGCCAACATAACAAGACCTCGTCTCTATAGAAACTAAAAAAAATTAGCCAGGGATAGTGGTGAGCACCTGCAGTCCCAGCTACTCGGGAAGCCAAGGTGAGCACCTGCAGTCCCAGCTACTCAGGAGGCCAAGGTGGGAGGATCTCTTGAGCCCAGGAGGTGGAGGCTGCTGTGAGATGTGATTGCACCACTGCACTCCAGTCTGGGTGACAAAGCAAGACCTCATCTAAAAAATAATAATAAATAAATAAATAAATCTACACATACTTAAAATGCAAATACTTCTCCCCATCCTACTTTTCCAGCTCTAAGTCTACTCCCCAAGAGAAGCATGTCTGATTATTTTAATTGTTTCTTCTGGCAGTTTCCTCAACAATTCTAAATGAAAGACAAAGCCTTATATTTGTTGATGCATCCATTTTGGATCATAATGTTCCTCCTAGGATGGCAGAGGATTTTGCTTTTCTCCATCACCATTCCCATCTTTTCTTCCCCATTTTTCCCAATATATTTTTATTGCTATTTTTGAGTCTCTGTTGCAAGTTATGTGCTTTTATCTTTCCTTTCTTGTTCTATCAACTGTAGACGGTATCTCCCAACCCTTCACATTGCAGGATGAAGAAAAAGCATTCCTACCCTCTCCTGTGGCTCTTGGCTCTCCTCTCCCCATTCTGTCCACTGACTTTTGCACCTGCATTTATACAGAATGCATTTGTCATCAGTCTTTGTACAAAACTTGCTTTTGTTTCCCAGCATCAAAGGTGCCTGAACTCTGGAGGCTTGCTTGCCTTCCCTGCTTACATGTTAGAGGGGACCTACTGTGTGCCAGGCACTGTCCTTCACGCTGCAAATAGATTACCTCTAGTAATAATAGTAATGAAAAGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAGGCAGATTACTTGACGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGTTGTGTGTGGTGGTCCGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGGGGTTGCAGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTTCATCTCAAAAAAATACATATATGTGTATATATATATAATATATATTATATATATATAATATATAGTGATA
AGCACTTTGGGAGGCTGAGTTGGGCTGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAGTCTCAGCTACTCTGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCGGAAGCTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAATAGAATCTGTATTTTTACAAAGCACCCTTCATAATTCTCCATAGCTGGTCCATGGGTGGGAATTTGGGACCCACAGTTTTGGAACTTTTTGGGATCATAGACCTTTTTGAGAATCTCAAAAAAGAAAAAAAAAGCACACAGAATGTTGCTTACAGTTTCATCAGGCACACAGAAGAGGCCCAGCACGAAGCAGTTTCTTGCCCAAGGACACAGCAGTTCAAGGACAGAGTCAGCGCGAGGTCTCTCAGCTCTGAGCACATGTTCTTTCCCCTTCCAGGTTTCTAGTTTTATGGGTAGTAGTTTTATGATGCCCATTTCACAGTTCAGGCAGGTAGAGGCAGAGGGGAGCATTAAGCTGACTTGCCCAGCGTCACTGAGTTGGCTACGGGCAGCCTTCCCAAGGGTACAGATGGCAAACACTGTTCCTTCTCTCTTTCAGGTGGCCCTGCTCAGAGCCCATGCTGGCGAGCACCTGCTGCTCGGAGCCACCAAGAGATCCATGGTGTTCAAGGACGTGCTGCTCCTAGGTGAGGCGGCTGCCTGCCCTGGCCAGGGCTCCAGGGAGGGTATGCCTAGCATGGCACTCACCCAGGCAAGGAGATTCACATGGTGGCATGCAAGGGTGAGGGAGACTAGTCAGGAGTGGCCCTGTCCTCAGGCTTGCATTAGAGGGCTCCAGGACTCAGTTTTCAACTGGGTACCCCACTCAGATGCAAGGAAATGTGGATGCAAGTCACCAAATTCCCAGCATTGAAGTCAGAGCACGATCAGGGTTATCCCTGGAATTACCTGTGCATCCTTTTTTCTTTTGACAGAGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGATGTGATCTCGGCTCACTTCAGCCTCCACCCGCCACGTTCAAGCAATTCTCCTGCCTCACCCTCCAGAGTTGCTGGGACCACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAATAATCCACCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTACCTGTGCATTCTGATGTTCTTTCTGGAGTAGGAGCAAGAGGTGGTTAAGAATGGCACAAAGCCCCAGCCCGCGTCACCTGTGCCTTCATGGCATAGTTATTATTTTAAACGCTTGTACAGCACACACTGTGTGCCAGGGACTGTGCTCACTGCTTTGCAAACACTACCTATTTTAATATAACAATGCTATGAGGGAAGCTCGATTATTTATCCTCATCTTATAGATAAGAAAACTGAGGCACAGAGAGGTTAAGTAACTTATCCAACTATAACCAGCTATCAGGGGCAGAGCCATTTAAGCAGGGCAGTGCAGTTCCAGAATCTGGTCCTTTAACCTTGATGCTTTGGTGCCTATCAGGTGACCTTTGAATGTCATCGATCTTGTGAGTCATGTTGGTAAATGGAGCTTGGGTCATGTGAAAGAGGTCCTAGAAAGCCAAGTTCCAAGCTCAGCCGGATGACTCAAGGCAGCTTATCTTCTGAATCTGGGCCTCAGCTTCCTTACCTGTGAAATGGGAGTCACCATCCCTGCAGGTCCTCCTCCCACAGGCACCAGCTATCTTGCCAACTTAAAAGCCAAAACTAGAGGAGAGGGGTCAACCCAAGGTGACTTCCCATCCTCCCTCCCTCCCAACCCTTCCAGGCAATGACTACATTGTCCCTCGGCACTGCCCGGAGCTGGCGGAGATGAGCCGGTGTCCATACGCATCCTTGACGAGCTGGTGCTGCCCTTCCAGGAGCTGCAGATCGATGACAATGAGTATGCCTACCTCAAAGCCATCATCTTCTTTGACCCAGGTACAGTGCACACCTCCTAAGCCATCCCTGACTCTCTCTCCAGAACGCTCTGCCAGACTTCTCCTATTGGGTTCTGTACACTGAGTTCACAGCCTCATCTCATGTTAACGACAGCCAGGAGAGGCCGTTTTCATTTAACAGATGAGGCAAGTCAAGATTTGAAGAGACAATATGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGGGTTCAAGATGAGCCTGGCTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCCCGCCACTGCATTCCAGCCTGGGTGACTCCATCTCAAAAAAACAAAAACAAAGGGAGGATATGACTTGACAGGGCACCCTGACTCCAAAGGCCTGGGCTTTCCCTTCTTTTACTTCTTCCCTCCATCCTTCTTTCTCTTTACTTCCCATCTTCCTCTTTTCTTTCATATTTGCTTCTTTTCCTCAAAAAAATTTATCAAAATAATATCTAGAACCGGATGTGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGAGGATCACTTCAGGCCAGGAGTTCGAGGCCAGCCTGGCCAACATAACAAGACCTCGTCTCTATAGAAACTAAAAAAAATTAGCCAGGGATAGTGGTGAGCACCTGCAGTCCCAGCTACTCGGGAAGCCAAGGTGAGCACCTGCAGTCCCAGCTACTCAGGAGGCCAAGGTGGGAGGATCTCTTGAGCCCAGGAGGTGGAGGCTGCTGTGAGATGTGATTGCACCACTGCACTCCAGTCTGGGTGACAAAGCAAGACCTCATCTAAAAAATAATAATAAATAAATAAATAAATCTACACATACTTAAAATGCAAATACTTCTCCCCATCCTACTTTTCCAGCTCTAAGTCTACTCCCCAAGAGAAGCATGTCTGATTATTTTAATTGTTTCTTCTGGCAGTTTCCTCAACAATTCTAAATGAAAGACAAAGCCTTATATTTGTTGATGCATCCATTTTGGATCATAATGTTCCTCCTAGGATGGCAGAGGATTTTGCTTTTCTCCATCACCATTCCCATCTTTTCTTCCCCATTTTTCCCAATATATTTTTATTGCTATTTTTGAGTCTCTGTTGCAAGTTATGTGCTTTTATCTTTCCTTTCTTGTTCTATCAACTGTAGACGGTATCTCCCAACCCTTCACATTGCAGGATGAAGAAAAAGCATTCCTACCCTCTCCTGTGGCTCTTGGCTCTCCTCTCCCCATTCTGTCCACTGACTTTTGCACCTGCATTTATACAGAATGCATTTGTCATCAGTCTTTGTACAAAACTTGCTTTTGTTTCCCAGCATCAAAGGTGCCTGAACTCTGGAGGCTTGCTTGCCTTCCCTGCTTACATGTTAGAGGGGACCTACTGTGTGCCAGGCACTGTCCTTCACGCTGCAAATAGATTACCTCTAGTAATAATAGTAATGAAAAGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAGGCAGATTACTTGACGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGTTGTGTGTGGTGGTCCGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGGGGTTGCAGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTTCATCTCAAAAAAATACATATATGTGTATATATATATAATATATATTATATATATATAATATATAGTGATAN
pathogenic
313,763
Clinical impact (benign or pathogenic) of the variant at chromosome 20, location 44419905, gene HNF4A (hepatocyte nuclear factor 4 alpha): what disease(s) if pathogenic?
benign
TACTCTGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCGGAAGCTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAATAGAATCTGTATTTTTACAAAGCACCCTTCATAATTCTCCATAGCTGGTCCATGGGTGGGAATTTGGGACCCACAGTTTTGGAACTTTTTGGGATCATAGACCTTTTTGAGAATCTCAAAAAAGAAAAAAAAAGCACACAGAATGTTGCTTACAGTTTCATCAGGCACACAGAAGAGGCCCAGCACGAAGCAGTTTCTTGCCCAAGGACACAGCAGTTCAAGGACAGAGTCAGCGCGAGGTCTCTCAGCTCTGAGCACATGTTCTTTCCCCTTCCAGGTTTCTAGTTTTATGGGTAGTAGTTTTATGATGCCCATTTCACAGTTCAGGCAGGTAGAGGCAGAGGGGAGCATTAAGCTGACTTGCCCAGCGTCACTGAGTTGGCTACGGGCAGCCTTCCCAAGGGTACAGATGGCAAACACTGTTCCTTCTCTCTTTCAGGTGGCCCTGCTCAGAGCCCATGCTGGCGAGCACCTGCTGCTCGGAGCCACCAAGAGATCCATGGTGTTCAAGGACGTGCTGCTCCTAGGTGAGGCGGCTGCCTGCCCTGGCCAGGGCTCCAGGGAGGGTATGCCTAGCATGGCACTCACCCAGGCAAGGAGATTCACATGGTGGCATGCAAGGGTGAGGGAGACTAGTCAGGAGTGGCCCTGTCCTCAGGCTTGCATTAGAGGGCTCCAGGACTCAGTTTTCAACTGGGTACCCCACTCAGATGCAAGGAAATGTGGATGCAAGTCACCAAATTCCCAGCATTGAAGTCAGAGCACGATCAGGGTTATCCCTGGAATTACCTGTGCATCCTTTTTTCTTTTGACAGAGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGATGTGATCTCGGCTCACTTCAGCCTCCACCCGCCACGTTCAAGCAATTCTCCTGCCTCACCCTCCAGAGTTGCTGGGACCACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAATAATCCACCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTACCTGTGCATTCTGATGTTCTTTCTGGAGTAGGAGCAAGAGGTGGTTAAGAATGGCACAAAGCCCCAGCCCGCGTCACCTGTGCCTTCATGGCATAGTTATTATTTTAAACGCTTGTACAGCACACACTGTGTGCCAGGGACTGTGCTCACTGCTTTGCAAACACTACCTATTTTAATATAACAATGCTATGAGGGAAGCTCGATTATTTATCCTCATCTTATAGATAAGAAAACTGAGGCACAGAGAGGTTAAGTAACTTATCCAACTATAACCAGCTATCAGGGGCAGAGCCATTTAAGCAGGGCAGTGCAGTTCCAGAATCTGGTCCTTTAACCTTGATGCTTTGGTGCCTATCAGGTGACCTTTGAATGTCATCGATCTTGTGAGTCATGTTGGTAAATGGAGCTTGGGTCATGTGAAAGAGGTCCTAGAAAGCCAAGTTCCAAGCTCAGCCGGATGACTCAAGGCAGCTTATCTTCTGAATCTGGGCCTCAGCTTCCTTACCTGTGAAATGGGAGTCACCATCCCTGCAGGTCCTCCTCCCACAGGCACCAGCTATCTTGCCAACTTAAAAGCCAAAACTAGAGGAGAGGGGTCAACCCAAGGTGACTTCCCATCCTCCCTCCCTCCCAACCCTTCCAGGCAATGACTACATTGTCCCTCGGCACTGCCCGGAGCTGGCGGAGATGAGCCGGGTGTCCATACGCATCCTTGACGAGCTGGTGCTGCCCTTCCAGGAGCTGCAGATCGATGACAATGAGTATGCCTACCTCAAAGCCATCATCTTCTTTGACCCAGGTACAGTGCACACCTCCTAAGCCATCCCTGACTCTCTCTCCAGAACGCTCTGCCAGACTTCTCCTATTGGGTTCTGTACACTGAGTTCACAGCCTCATCTCATGTTAACGACAGCCAGGAGAGGCCGTTTTCATTTAACAGATGAGGCAAGTCAAGATTTGAAGAGACAATATGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGGGTTCAAGATGAGCCTGGCTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCCCGCCACTGCATTCCAGCCTGGGTGACTCCATCTCAAAAAAACAAAAACAAAGGGAGGATATGACTTGACAGGGCACCCTGACTCCAAAGGCCTGGGCTTTCCCTTCTTTTACTTCTTCCCTCCATCCTTCTTTCTCTTTACTTCCCATCTTCCTCTTTTCTTTCATATTTGCTTCTTTTCCTCAAAAAAATTTATCAAAATAATATCTAGAACCGGATGTGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGAGGATCACTTCAGGCCAGGAGTTCGAGGCCAGCCTGGCCAACATAACAAGACCTCGTCTCTATAGAAACTAAAAAAAATTAGCCAGGGATAGTGGTGAGCACCTGCAGTCCCAGCTACTCGGGAAGCCAAGGTGAGCACCTGCAGTCCCAGCTACTCAGGAGGCCAAGGTGGGAGGATCTCTTGAGCCCAGGAGGTGGAGGCTGCTGTGAGATGTGATTGCACCACTGCACTCCAGTCTGGGTGACAAAGCAAGACCTCATCTAAAAAATAATAATAAATAAATAAATAAATCTACACATACTTAAAATGCAAATACTTCTCCCCATCCTACTTTTCCAGCTCTAAGTCTACTCCCCAAGAGAAGCATGTCTGATTATTTTAATTGTTTCTTCTGGCAGTTTCCTCAACAATTCTAAATGAAAGACAAAGCCTTATATTTGTTGATGCATCCATTTTGGATCATAATGTTCCTCCTAGGATGGCAGAGGATTTTGCTTTTCTCCATCACCATTCCCATCTTTTCTTCCCCATTTTTCCCAATATATTTTTATTGCTATTTTTGAGTCTCTGTTGCAAGTTATGTGCTTTTATCTTTCCTTTCTTGTTCTATCAACTGTAGACGGTATCTCCCAACCCTTCACATTGCAGGATGAAGAAAAAGCATTCCTACCCTCTCCTGTGGCTCTTGGCTCTCCTCTCCCCATTCTGTCCACTGACTTTTGCACCTGCATTTATACAGAATGCATTTGTCATCAGTCTTTGTACAAAACTTGCTTTTGTTTCCCAGCATCAAAGGTGCCTGAACTCTGGAGGCTTGCTTGCCTTCCCTGCTTACATGTTAGAGGGGACCTACTGTGTGCCAGGCACTGTCCTTCACGCTGCAAATAGATTACCTCTAGTAATAATAGTAATGAAAAGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAGGCAGATTACTTGACGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGTTGTGTGTGGTGGTCCGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGGGGTTGCAGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTTCATCTCAAAAAAATACATATATGTGTATATATATATAATATATATTATATATATATAATATATAGTGATATATATAGTATATAGTGATATATTACGTATAATATATATTATATATAGTGATATATATTTTATATATATATAGTGATATATATTATATATAGAGAGAGTGATGAAGTGGAAGATGAGCCCCATGTATTGAATGCT
TACTCTGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCGGAAGCTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAATAGAATCTGTATTTTTACAAAGCACCCTTCATAATTCTCCATAGCTGGTCCATGGGTGGGAATTTGGGACCCACAGTTTTGGAACTTTTTGGGATCATAGACCTTTTTGAGAATCTCAAAAAAGAAAAAAAAAGCACACAGAATGTTGCTTACAGTTTCATCAGGCACACAGAAGAGGCCCAGCACGAAGCAGTTTCTTGCCCAAGGACACAGCAGTTCAAGGACAGAGTCAGCGCGAGGTCTCTCAGCTCTGAGCACATGTTCTTTCCCCTTCCAGGTTTCTAGTTTTATGGGTAGTAGTTTTATGATGCCCATTTCACAGTTCAGGCAGGTAGAGGCAGAGGGGAGCATTAAGCTGACTTGCCCAGCGTCACTGAGTTGGCTACGGGCAGCCTTCCCAAGGGTACAGATGGCAAACACTGTTCCTTCTCTCTTTCAGGTGGCCCTGCTCAGAGCCCATGCTGGCGAGCACCTGCTGCTCGGAGCCACCAAGAGATCCATGGTGTTCAAGGACGTGCTGCTCCTAGGTGAGGCGGCTGCCTGCCCTGGCCAGGGCTCCAGGGAGGGTATGCCTAGCATGGCACTCACCCAGGCAAGGAGATTCACATGGTGGCATGCAAGGGTGAGGGAGACTAGTCAGGAGTGGCCCTGTCCTCAGGCTTGCATTAGAGGGCTCCAGGACTCAGTTTTCAACTGGGTACCCCACTCAGATGCAAGGAAATGTGGATGCAAGTCACCAAATTCCCAGCATTGAAGTCAGAGCACGATCAGGGTTATCCCTGGAATTACCTGTGCATCCTTTTTTCTTTTGACAGAGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGATGTGATCTCGGCTCACTTCAGCCTCCACCCGCCACGTTCAAGCAATTCTCCTGCCTCACCCTCCAGAGTTGCTGGGACCACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAATAATCCACCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTACCTGTGCATTCTGATGTTCTTTCTGGAGTAGGAGCAAGAGGTGGTTAAGAATGGCACAAAGCCCCAGCCCGCGTCACCTGTGCCTTCATGGCATAGTTATTATTTTAAACGCTTGTACAGCACACACTGTGTGCCAGGGACTGTGCTCACTGCTTTGCAAACACTACCTATTTTAATATAACAATGCTATGAGGGAAGCTCGATTATTTATCCTCATCTTATAGATAAGAAAACTGAGGCACAGAGAGGTTAAGTAACTTATCCAACTATAACCAGCTATCAGGGGCAGAGCCATTTAAGCAGGGCAGTGCAGTTCCAGAATCTGGTCCTTTAACCTTGATGCTTTGGTGCCTATCAGGTGACCTTTGAATGTCATCGATCTTGTGAGTCATGTTGGTAAATGGAGCTTGGGTCATGTGAAAGAGGTCCTAGAAAGCCAAGTTCCAAGCTCAGCCGGATGACTCAAGGCAGCTTATCTTCTGAATCTGGGCCTCAGCTTCCTTACCTGTGAAATGGGAGTCACCATCCCTGCAGGTCCTCCTCCCACAGGCACCAGCTATCTTGCCAACTTAAAAGCCAAAACTAGAGGAGAGGGGTCAACCCAAGGTGACTTCCCATCCTCCCTCCCTCCCAACCCTTCCAGGCAATGACTACATTGTCCCTCGGCACTGCCCGGAGCTGGCGGAGATGAGCCGGGTGTCCATACGCATCCTTGACGAGCTGGTGCTGCCCTTCCAGGAGCTGCAGATCGATGACAATGAGTATGCCTACCTCAAAGCCATCATCTTCTTTGACCCAGGTACAGTGCACACCTCCTAAGCCATCCCTGGACTCTCTCTCCAGAACGCTCTGCCAGACTTCTCCTATTGGGTTCTGTACACTGAGTTCACAGCCTCATCTCATGTTAACGACAGCCAGGAGAGGCCGTTTTCATTTAACAGATGAGGCAAGTCAAGATTTGAAGAGACAATATGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGGGTTCAAGATGAGCCTGGCTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCCCGCCACTGCATTCCAGCCTGGGTGACTCCATCTCAAAAAAACAAAAACAAAGGGAGGATATGACTTGACAGGGCACCCTGACTCCAAAGGCCTGGGCTTTCCCTTCTTTTACTTCTTCCCTCCATCCTTCTTTCTCTTTACTTCCCATCTTCCTCTTTTCTTTCATATTTGCTTCTTTTCCTCAAAAAAATTTATCAAAATAATATCTAGAACCGGATGTGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGAGGATCACTTCAGGCCAGGAGTTCGAGGCCAGCCTGGCCAACATAACAAGACCTCGTCTCTATAGAAACTAAAAAAAATTAGCCAGGGATAGTGGTGAGCACCTGCAGTCCCAGCTACTCGGGAAGCCAAGGTGAGCACCTGCAGTCCCAGCTACTCAGGAGGCCAAGGTGGGAGGATCTCTTGAGCCCAGGAGGTGGAGGCTGCTGTGAGATGTGATTGCACCACTGCACTCCAGTCTGGGTGACAAAGCAAGACCTCATCTAAAAAATAATAATAAATAAATAAATAAATCTACACATACTTAAAATGCAAATACTTCTCCCCATCCTACTTTTCCAGCTCTAAGTCTACTCCCCAAGAGAAGCATGTCTGATTATTTTAATTGTTTCTTCTGGCAGTTTCCTCAACAATTCTAAATGAAAGACAAAGCCTTATATTTGTTGATGCATCCATTTTGGATCATAATGTTCCTCCTAGGATGGCAGAGGATTTTGCTTTTCTCCATCACCATTCCCATCTTTTCTTCCCCATTTTTCCCAATATATTTTTATTGCTATTTTTGAGTCTCTGTTGCAAGTTATGTGCTTTTATCTTTCCTTTCTTGTTCTATCAACTGTAGACGGTATCTCCCAACCCTTCACATTGCAGGATGAAGAAAAAGCATTCCTACCCTCTCCTGTGGCTCTTGGCTCTCCTCTCCCCATTCTGTCCACTGACTTTTGCACCTGCATTTATACAGAATGCATTTGTCATCAGTCTTTGTACAAAACTTGCTTTTGTTTCCCAGCATCAAAGGTGCCTGAACTCTGGAGGCTTGCTTGCCTTCCCTGCTTACATGTTAGAGGGGACCTACTGTGTGCCAGGCACTGTCCTTCACGCTGCAAATAGATTACCTCTAGTAATAATAGTAATGAAAAGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAGGCAGATTACTTGACGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGTTGTGTGTGGTGGTCCGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGGGGTTGCAGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTTCATCTCAAAAAAATACATATATGTGTATATATATATAATATATATTATATATATATAATATATAGTGATATATATAGTATATAGTGATATATTACGTATAATATATATTATATATAGTGATATATATTTTATATATATATAGTGATATATATTATATATAGAGAGAGTGATGAAGTGGAAGATGAGCCCCATGTATTGAATGC
benign
313,775
Clinical classification of chromosome 20, position 44424067, gene HNF4A (hepatocyte nuclear factor 4 alpha): benign or pathogenic? Disease(s) if pathogenic?
pathogenic; ['Monogenic_diabetes']
TAGGAATTATTATTATCTCCATTTTACAGATAAGGAAACTGAGGCATGATTAACTTGCTCAAGGTCACACAACCGGAAAATGGCAGAGCTTGGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGAC
TAGGAATTATTATTATCTCCATTTTACAGATAAGGAAACTGAGGCATGATTAACTTGCTCAAGGTCACACAACCGGAAAATGGCAGAGCTTGGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGTGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGA
pathogenic
313,785
Variant in HNF4A (hepatocyte nuclear factor 4 alpha), chromosome 20, position 44424104—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Monogenic_diabetes']
ACTGAGGCATGATTAACTTGCTCAAGGTCACACAACCGGAAAATGGCAGAGCTTGGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCAG
ACTGAGGCATGATTAACTTGCTCAAGGTCACACAACCGGAAAATGGCAGAGCTTGGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCA
pathogenic
313,789
A genetic variant at chromosome 20, position 44424132, affecting gene HNF4A (hepatocyte nuclear factor 4 alpha)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
pathogenic; ['Fanconi_renotubular_syndrome_4_with_maturity-onset_diabetes_of_the_young', 'Hyperinsulinism_due_to_HNF4A_deficiency', 'Maturity-onset_diabetes_of_the_young_type_1', 'Monogenic_diabetes', 'Type_2_diabetes_mellitus']
CACACAACCGGAAAATGGCAGAGCTTGGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCAGAATCCAAGAGAAGAGCGTGTTTGAAGGA
CACACAACCGGAAAATGGCAGAGCTTGGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCAGAATCCAAGAGAAGAGCGTGTTTGAA
pathogenic
313,799
Considering the genetic mutation at chromosome 20, position 44424158, impacting HNF4A (hepatocyte nuclear factor 4 alpha): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes']
GGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCAGAATCCAAGAGAAGAGCGTGTTTGAAGGACAGAGTGTTTAATGGTGTTAAACTCT
GGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCAGAATCCAAGAGAAGAGCGTGTTTGAAGGACAGAGTGTTTAATGGTGTTAAACTCTN
pathogenic
313,801
Is the genetic change at chromosome 20, position 44424242, within gene HNF4A (hepatocyte nuclear factor 4 alpha) benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Maturity_onset_diabetes_mellitus_in_young']
ACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCAGAATCCAAGAGAAGAGCGTGTTTGAAGGACAGAGTGTTTAATGGTGTTAAACTCTACAGAGAAACAGAAAGAAGCGGGGAAGAAAGGAGAGGTGAAGAGAGGAGGGGAAGAGAGAGGAAAGGGTCCATTGGATTGACAG
ACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGTGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCAGAATCCAAGAGAAGAGCGTGTTTGAAGGACAGAGTGTTTAATGGTGTTAAACTCTACAGAGAAACAGAAAGAAGCGGGGAAGAAAGGAGAGGTGAAGAGAGGAGGGGAAGAGAGAGGAAAGGGTCCATTGGATTGAC
pathogenic
313,814
Chromosome 20, position 44424249, gene HNF4A (hepatocyte nuclear factor 4 alpha): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Monogenic_diabetes']
GGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCAGAATCCAAGAGAAGAGCGTGTTTGAAGGACAGAGTGTTTAATGGTGTTAAACTCTACAGAGAAACAGAAAGAAGCGGGGAAGAAAGGAGAGGTGAAGAGAGGAGGGGAAGAGAGAGGAAAGGGTCCATTGGATTGACAGCTGGAGG
GGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCAGAATCCAAGAGAAGAGCGTGTTTGAAGGACAGAGTGTTTAATGGTGTTAAACTCTACAGAGAAACAGAAAGAAGCGGGGAAGAAAGGAGAGGTGAAGAGAGGAGGGGAAGAGAGAGGAAAGGGTCCATTGGATTGACAGCTGGAGGN
pathogenic
313,816
Determine whether the variant at chromosome 20, position 44432803, in gene HNF4A (hepatocyte nuclear factor 4 alpha) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
benign
AGGCTGGAAGCTGGGAGGTCAGGTGGGGTGGATGATATAATGCGGGTGAGAGTAATGAGGCTTGGGGCTGGAGAGGACAAGATGGGTAAACCCTCACATCAGAGTGACATCCAGGAGGAATAAGCTCCCAGGGCCTGTCTCAAGCTCTTCCTTACTCCCAGGCACTGTCTTAAGGCATCTGACATGCATCATCTCATTTAATCCTCCCTTCCTCCCTATTAACCTAGAGATTGTTTTTGTTTTTTATTCTCCTCCTCCCTCCCCGCCCTCACCCGCCCCACTCCCTCCTAACCTAGAGATTGTTACAGAAGCTGAAATTGCGTTCTAAGAGGTGAAGTGATTTTTTTTCTGAAACTCACACAACTAGGAAGTGGCTGAGTCAGGACTTGAACCCAGGTCTCCCTGGATCAGAACAGGAGCTCTTAACTACAGTGGCTGAATAGCTTCTCCAAAGGCTCCCTGTGTTCTCACCGTGATCAAGTTGAGGGGCTTCCGGCTCCCTTCTACAGCCTCAGAAACCAGACTCGTTCTTCTGGGAACCCTGCCCACTCCCAGGACCAAGATTGGCCTGAGGCTGCACTAAAATTCACTTAGGGTCGAGCATCCTGTTTGCTGATAAATATTAAGGAGAATTCATGACTCTTGACAGCTTTTCTCTCTTCACTCCCCAAGTCAAGGGGAGGGGTGGCAGGGGTCTGTTTCCTGGAAGTCAGGCTCATCTGGCCTGTTGGCATGGGGGTGGGACAGTGTGCACAGTGTGGGGGCAGGGGAGGGCTAAGCAGGCCTGGGTTTGAGGGCTGCTCCGGAGACCGTCACTCCAGGTGCATTCTGGAAGCATTAGACCCCAGGATGGAGCGACCAGCATGTCATCCATGTGGAATCTTGGTGGCTTTGAGGACATTCTGGAAAATGCCACTGACCAGTGTGAACAAAAGGGATGTGTTATGGGGCTGGAGGTGTGATTAGGTAGGAGGGAAACTGTTGGACCGACTCCTGCCCCCTGCTCAACACTGACCCCTCTGAGTGGTTGGAGGCAGTGCCCCAGTGCCCAGAAATCCCACCATTAGTGATTGTTTTTTATGAGAAAGAGGCGTGGAGAAGTATTGGGGCAATGTGTCAGGGAGGAATCACCACATCCCTACGGCAGTCCCAGCCAAGCCCCCAATCCCAGCGGAGACTGTGCCCTGCTCAGAGCTCCCAAGCCTTCCCCCACCACCTCACTCAAGTGCCCCTGAAATCCCTGCCAGACGGCTCAGCCTGGTCTGCGGTAAGGCAGGGAGGCTGGAACCATTTCTGGGCATTGTGGTCATTCCCACTGTGTTCCTCCACCTCCTCCCTCCAGCGTTGCTCAGACCTCTGTCTTGGGAGAAAGGTTGAGATAAGAATGTCCCATGGAGTGCCGTGGGCAACAGTGGCCCTTCATGGGAACAATCTGTTGGAGCAGGGGGTCAGTTCTCTGCTGGGAATCTACCCCTTTCTGGAGGAGAAACCCATTCCACCTTAATAACTTTATTGTAATGTGAGAAACACAAAACAAAGTTTACTTTTTTGACTCTAAGCTGACATGATATTAGAAAATCTCTCGCTCTCTTTTTTTTTTTTTTTTTTTTTTTTGGCTACTTGAGTTGTGGTCCTAAAACATAAAATCTGATGGACAAACAGAGGGTTGCTGGGGGGACAAGCGTGGGCACAATTTCCCCACCAAGACACCCTGATCTTCAGGCGGGTCTCAGGAGCTTCTAAAAATCCGCATGGCTCTCCTGAGAGTGGACAGAGGAGAGGAGAGGGTCAGAAATGAACGCTCTTCTATTTCTTGTCATTACCAAGCCAATTACTTTTGCCAAATTTTTCTGTGATCTGCCCTGATTAAGATGAATTGTGAAATTTACATCAAGCAATTATCAAAGCGGGCTGGGTCCCATCAGAACGACCCACATCTTTCTGTGGGTGTGAATGTCATTAGGTCTTGCGCTGACCCCTGAGCCCCCATCACTGCCGCCTGATGGGGCAAAGAAACAAAAAACATTTCTTACTCTTCTGTGTTTTAACAAAAGTTTATAAAACAAAATAAATGGCGCATATGTTTTCTAAGTCCTTGGATAAGTATCTTTTCTTTCAGGTATCAGAAATAAGACTGAATCTTCTGGTTCTACTTGGGGGTTAAAAAATTTTTTTTAAAGGAAGAATGAGAATAGTTTTATAGTTCTTTGTGATGTGCAGAATGTTTTTGTGTCCATTATAATTTTTCAGTCTTCACATCAAGAGGTAAGCAGTTAGACATGATTACTCCCACTTTCCAGATGAGGAGACTGAGGCTTGGGGGAAGTGACTTCTCTTGGAAGGCAGAGGTGGACATCTAACCCTGGTCTCTTGATTCCAAGTACTTAGTATATCGAGAGAGTGAAAGTTGATCCCCCTTCTTGAAGAGGGGAGTGATGAGGGGAGAGTGCAATGGCAAGATCTGGAAGAATGGCAAGAGGGTCCAAGGGTCTGTCATCCTCCACCAAGGTTCAAGACAGAACCTTTTGCTGGGTCACCTCAATCTGCCAGCAATGGAAGATGAGTAGCTGTGGGGACATTTCATAAAAGCAAGTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTGTTTTTTTTTCTAGAACAAGGCTGTGCACAGTGGCTCACCTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCAGAGCAATATAAGGAGACCCCATCTCTACAAAAAATTTAAAAATTAGCCAGGTATAGTGGTGTGTGCCTATAGTACCAGCTACTCTGAAGGCTGAGGTGGGAAGATTGCTTCAGCCCAGGAGTTCGAGGATGCAGTGAGCTATGAATGCAACACTGCACTACAGCCTGGATGAAAGAACAAGACTCTGTCTCAAAACATAAATAATAAGTAAAAAGAATAAAAGCAAGAGATGCACTTGAGAATCTCCAGCCAGATCTGTAGCCACTGGGCTTCTCTCCAAGGCTAAACTATTACAGGAGGGTGGCCTTGTGTCTCGGTCACCACAGACCACAGCGTTCCATTCACTCGGGGTTGTGCTGGAGCTGGCTTGTGAGAACTGACTGTTAGCTTCTCTTCCCAACTCCATGTTTGCCAGTGCCACACTGATAGCTTGAAATTGGTTATTGCCGGAGTGTTTACACCACAAGGACTAGCAAACTCTACAAATCCGGGCTTTTGTTCCTGGAGAGCCCGTTGTTAACATTCACCAGCACACCACAGCATTCGGCAATGGCTGGACCATGGGATGCCTACATATGGGGACATCCTCCTTGGGGATGAGGGTAGAGCAGGGCGATCCTTTCACCTCTTCCTTAAGGGAGGGGACAAAAGTTCTGGTCTGGGAAGCACACGTTTTGCTGATCAGCGTAACCTTGGGCAGGTCACTCCACCACTCCGAGCCTCATCTGTAAAGTGGGAATGATATCTCCCTCCAGGGCAGATGTCAGGATTCAATGGAATGAGATCACAGTAACTGTGAGAGCTCCCGTTACATGAGGAGTACAAGTGAACTCTTCATGCGCCCCTTTTTAGCGAGAAGTTAACCATTAAACTCTCCAGGCTTCAGAGCACCCATTCGCTGTCTACCTGATCCCTAGGGCCGCTCCCGCCTTCCCCTGTGCCTTCCCTCCACTAGTCAGCACCAGGAAATGTTTTCGATAACGTTGCAACGGAGGCCTTGTTCATGCTGCCGCCATCGGGGACAAGCGCGGGGGGGGGGGGGTGGAGGCCAGAGGAGACTATTTCAGTCCTAAATTGTGCTTAATAAACCCATATCAAAACCATAAACCCTTGGCTGCCATAAATTCCTCTACCCTTGGATCCTCCACCTCATCAGCCCTTTGCCCTGGTTAATCTCAAATCTCAGCGCAGGCAGCCGGAGCTTTAGGTTTGGTTTCTACTTCAGTTGCTAAACAGCATCAGCTCAGGTGGCAGACAGTAAAATTCCCATTTTAGAGATGATGAAACTGAGGTTCAGAAAGGTGAAGAAACTTGTCCAAGGTCACACAGCTAGAGACCCCAGCCAAGACCTGAGCCCATGC
AGGCTGGAAGCTGGGAGGTCAGGTGGGGTGGATGATATAATGCGGGTGAGAGTAATGAGGCTTGGGGCTGGAGAGGACAAGATGGGTAAACCCTCACATCAGAGTGACATCCAGGAGGAATAAGCTCCCAGGGCCTGTCTCAAGCTCTTCCTTACTCCCAGGCACTGTCTTAAGGCATCTGACATGCATCATCTCATTTAATCCTCCCTTCCTCCCTATTAACCTAGAGATTGTTTTTGTTTTTTATTCTCCTCCTCCCTCCCCGCCCTCACCCGCCCCACTCCCTCCTAACCTAGAGATTGTTACAGAAGCTGAAATTGCGTTCTAAGAGGTGAAGTGATTTTTTTTCTGAAACTCACACAACTAGGAAGTGGCTGAGTCAGGACTTGAACCCAGGTCTCCCTGGATCAGAACAGGAGCTCTTAACTACAGTGGCTGAATAGCTTCTCCAAAGGCTCCCTGTGTTCTCACCGTGATCAAGTTGAGGGGCTTCCGGCTCCCTTCTACAGCCTCAGAAACCAGACTCGTTCTTCTGGGAACCCTGCCCACTCCCAGGACCAAGATTGGCCTGAGGCTGCACTAAAATTCACTTAGGGTCGAGCATCCTGTTTGCTGATAAATATTAAGGAGAATTCATGACTCTTGACAGCTTTTCTCTCTTCACTCCCCAAGTCAAGGGGAGGGGTGGCAGGGGTCTGTTTCCTGGAAGTCAGGCTCATCTGGCCTGTTGGCATGGGGGTGGGACAGTGTGCACAGTGTGGGGGCAGGGGAGGGCTAAGCAGGCCTGGGTTTGAGGGCTGCTCCGGAGACCGTCACTCCAGGTGCATTCTGGAAGCATTAGACCCCAGGATGGAGCGACCAGCATGTCATCCATGTGGAATCTTGGTGGCTTTGAGGACATTCTGGAAAATGCCACTGACCAGTGTGAACAAAAGGGATGTGTTATGGGGCTGGAGGTGTGATTAGGTAGGAGGGAAACTGTTGGACCGACTCCTGCCCCCTGCTCAACACTGACCCCTCTGAGTGGTTGGAGGCAGTGCCCCAGTGCCCAGAAATCCCACCATTAGTGATTGTTTTTTATGAGAAAGAGGCGTGGAGAAGTATTGGGGCAATGTGTCAGGGAGGAATCACCACATCCCTACGGCAGTCCCAGCCAAGCCCCCAATCCCAGCGGAGACTGTGCCCTGCTCAGAGCTCCCAAGCCTTCCCCCACCACCTCACTCAAGTGCCCCTGAAATCCCTGCCAGACGGCTCAGCCTGGTCTGCGGTAAGGCAGGGAGGCTGGAACCATTTCTGGGCATTGTGGTCATTCCCACTGTGTTCCTCCACCTCCTCCCTCCAGCGTTGCTCAGACCTCTGTCTTGGGAGAAAGGTTGAGATAAGAATGTCCCATGGAGTGCCGTGGGCAACAGTGGCCCTTCATGGGAACAATCTGTTGGAGCAGGGGGTCAGTTCTCTGCTGGGAATCTACCCCTTTCTGGAGGAGAAACCCATTCCACCTTAATAACTTTATTGTAATGTGAGAAACACAAAACAAAGTTTACTTTTTTGACTCTAAGCTGACATGATATTAGAAAATCTCTCGCTCTCTTTTTTTTTTTTTTTTTTTTTTTTGGCTACTTGAGTTGTGGTCCTAAAACATAAAATCTGATGGACAAACAGAGGGTTGCTGGGGGGACAAGCGTGGGCACAATTTCCCCACCAAGACACCCTGATCTTCAGGCGGGTCTCAGGAGCTTCTAAAAATCCGCATGGCTCTCCTGAGAGTGGACAGAGGAGAGGAGAGGGTCAGAAATGAACGCTCTTCTATTTCTTGTCATTACCAAGCCAATTACTTTTGCCAAATTTTTCTGTGATCTGCCCTGATTAAGATGAATTGTGAAATTTACATCAAGCAATTATCAAAGCGGGCTGGGTCCCATCAGAACGACCCACATCTTTCTGTGGGTGTGAATGTCATTAGGTCTTGCGCTGACCCCTGAGCCCCCATCACTGCCGCCTGATGGGGCAAAGAAACAAAAAACATTTCTTACTCTTCTGTGTTTTAACAAAGTTTATAAAACAAAATAAATGGCGCATATGTTTTCTAAGTCCTTGGATAAGTATCTTTTCTTTCAGGTATCAGAAATAAGACTGAATCTTCTGGTTCTACTTGGGGGTTAAAAAATTTTTTTTAAAGGAAGAATGAGAATAGTTTTATAGTTCTTTGTGATGTGCAGAATGTTTTTGTGTCCATTATAATTTTTCAGTCTTCACATCAAGAGGTAAGCAGTTAGACATGATTACTCCCACTTTCCAGATGAGGAGACTGAGGCTTGGGGGAAGTGACTTCTCTTGGAAGGCAGAGGTGGACATCTAACCCTGGTCTCTTGATTCCAAGTACTTAGTATATCGAGAGAGTGAAAGTTGATCCCCCTTCTTGAAGAGGGGAGTGATGAGGGGAGAGTGCAATGGCAAGATCTGGAAGAATGGCAAGAGGGTCCAAGGGTCTGTCATCCTCCACCAAGGTTCAAGACAGAACCTTTTGCTGGGTCACCTCAATCTGCCAGCAATGGAAGATGAGTAGCTGTGGGGACATTTCATAAAAGCAAGTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTGTTTTTTTTTCTAGAACAAGGCTGTGCACAGTGGCTCACCTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCAGAGCAATATAAGGAGACCCCATCTCTACAAAAAATTTAAAAATTAGCCAGGTATAGTGGTGTGTGCCTATAGTACCAGCTACTCTGAAGGCTGAGGTGGGAAGATTGCTTCAGCCCAGGAGTTCGAGGATGCAGTGAGCTATGAATGCAACACTGCACTACAGCCTGGATGAAAGAACAAGACTCTGTCTCAAAACATAAATAATAAGTAAAAAGAATAAAAGCAAGAGATGCACTTGAGAATCTCCAGCCAGATCTGTAGCCACTGGGCTTCTCTCCAAGGCTAAACTATTACAGGAGGGTGGCCTTGTGTCTCGGTCACCACAGACCACAGCGTTCCATTCACTCGGGGTTGTGCTGGAGCTGGCTTGTGAGAACTGACTGTTAGCTTCTCTTCCCAACTCCATGTTTGCCAGTGCCACACTGATAGCTTGAAATTGGTTATTGCCGGAGTGTTTACACCACAAGGACTAGCAAACTCTACAAATCCGGGCTTTTGTTCCTGGAGAGCCCGTTGTTAACATTCACCAGCACACCACAGCATTCGGCAATGGCTGGACCATGGGATGCCTACATATGGGGACATCCTCCTTGGGGATGAGGGTAGAGCAGGGCGATCCTTTCACCTCTTCCTTAAGGGAGGGGACAAAAGTTCTGGTCTGGGAAGCACACGTTTTGCTGATCAGCGTAACCTTGGGCAGGTCACTCCACCACTCCGAGCCTCATCTGTAAAGTGGGAATGATATCTCCCTCCAGGGCAGATGTCAGGATTCAATGGAATGAGATCACAGTAACTGTGAGAGCTCCCGTTACATGAGGAGTACAAGTGAACTCTTCATGCGCCCCTTTTTAGCGAGAAGTTAACCATTAAACTCTCCAGGCTTCAGAGCACCCATTCGCTGTCTACCTGATCCCTAGGGCCGCTCCCGCCTTCCCCTGTGCCTTCCCTCCACTAGTCAGCACCAGGAAATGTTTTCGATAACGTTGCAACGGAGGCCTTGTTCATGCTGCCGCCATCGGGGACAAGCGCGGGGGGGGGGGGGTGGAGGCCAGAGGAGACTATTTCAGTCCTAAATTGTGCTTAATAAACCCATATCAAAACCATAAACCCTTGGCTGCCATAAATTCCTCTACCCTTGGATCCTCCACCTCATCAGCCCTTTGCCCTGGTTAATCTCAAATCTCAGCGCAGGCAGCCGGAGCTTTAGGTTTGGTTTCTACTTCAGTTGCTAAACAGCATCAGCTCAGGTGGCAGACAGTAAAATTCCCATTTTAGAGATGATGAAACTGAGGTTCAGAAAGGTGAAGAAACTTGTCCAAGGTCACACAGCTAGAGACCCCAGCCAAGACCTGAGCCCATGCN
benign
313,855
Regarding the variant found on chromosome 20 at position 44620354 in gene ADA (adenosine deaminase): is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
CCCCAGACAAGGAAGCTGGCAACCAGCCCCAGAGCAGCGATGGGACCACCTCGTCTTGAATCTGACCTTGTCCAAGAAGGCTGGACGAGAGACCTTCTGTCCCCTCCCAGAGGGGGAACCCTGGCACTGGCCCAGCAGCCTCTTCTCTGAGCTCCATGTCCCAGATAAACCAGGCCAGACTGAGAAGGCTCCCCAGAGGCCTCTGTGGCCTCCACTCCGGGAAAGCCCTCTGCCCACACCCACAGGCTTCACATTCCCACCACCTTCGCACCGTGCCCAGGTACACTTTCAAGACACTGTAACCACAAGATGTTATTTATTGAGCTGGCGCCGGGACTTGGGCGGGGCCTGCCCTACAGTGAGCAGCCCACACAGGAACGCTCCTCTCGCGAGCGGCCCGGGCAGGGACCCTGTCCCAACACCAACACCTCCTCTCCAGCCCAATCTTCTGGGTCCAGACCTGCTTGTCCCTTTTTTAGAAAACACTTTTAAACTTTTTAAAAATTTTAAACCTTTTTTCAGCAGATATGGAGAGAGCTGACAATCAATTCACATTTTTTAAGCCATTTTAGCTAAACTGTCATTGTGCATCTCTGAGGTTCCCTCATGGAGCTCCACAGATCCATTTTTAGGGAAGGGATTTTGGCTCAAAACGATCTGACCACCTCTGCCCTGTCCACCAGGATAAGTGACACCTAGGACCCAGGAAATAAATGCCGATGATTTGTGTGACTGGTTTAAGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTCTTTTCATCTTCTGGGAGGAAACTAGATTTGGCCGCATTGATGTTCTGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAG
CCCCAGACAAGGAAGCTGGCAACCAGCCCCAGAGCAGCGATGGGACCACCTCGTCTTGAATCTGACCTTGTCCAAGAAGGCTGGACGAGAGACCTTCTGTCCCCTCCCAGAGGGGGAACCCTGGCACTGGCCCAGCAGCCTCTTCTCTGAGCTCCATGTCCCAGATAAACCAGGCCAGACTGAGAAGGCTCCCCAGAGGCCTCTGTGGCCTCCACTCCGGGAAAGCCCTCTGCCCACACCCACAGGCTTCACATTCCCACCACCTTCGCACCGTGCCCAGGTACACTTTCAAGACACTGTAACCACAAGATGTTATTTATTGAGCTGGCGCCGGGACTTGGGCGGGGCCTGCCCTACAGTGAGCAGCCCACACAGGAACGCTCCTCTCGCGAGCGGCCCGGGCAGGGACCCTGTCCCAACACCAACACCTCCTCTCCAGCCCAATCTTCTGGGTCCAGACCTGCTTGTCCCTTTTTTAGAAAACACTTTTAAACTTTTTAAAAATTTTAAACCTTTTTTCAGCAGATATGGAGAGAGCTGACAATCAATTCACATTTTTTAAGCCATTTTAGCTAAACTGTCATTGTGCATCTCTGAGGTTCCCTCATGGAGCTCCACAGATCCATTTTTAGGGAAGGGATTTTGGCTCAAAACGATCTGACCACCTCTGCCCTGTCCACCAGGATAAGTGACACCTAGGACCCAGGAAATAAATGCCGATGATTTGTGTGACTGGTTTAAGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTTTTCATCTTCTGGGAGGAAACTAGATTTGGCCGCATTGATGTTCTGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGNN
pathogenic
313,861
Variant chromosome 20, position 44620379, gene ADA (adenosine deaminase): benign or pathogenic? Disease(s)?
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency', 'Severe_combined_immunodeficiency_disease']
GCCCCAGAGCAGCGATGGGACCACCTCGTCTTGAATCTGACCTTGTCCAAGAAGGCTGGACGAGAGACCTTCTGTCCCCTCCCAGAGGGGGAACCCTGGCACTGGCCCAGCAGCCTCTTCTCTGAGCTCCATGTCCCAGATAAACCAGGCCAGACTGAGAAGGCTCCCCAGAGGCCTCTGTGGCCTCCACTCCGGGAAAGCCCTCTGCCCACACCCACAGGCTTCACATTCCCACCACCTTCGCACCGTGCCCAGGTACACTTTCAAGACACTGTAACCACAAGATGTTATTTATTGAGCTGGCGCCGGGACTTGGGCGGGGCCTGCCCTACAGTGAGCAGCCCACACAGGAACGCTCCTCTCGCGAGCGGCCCGGGCAGGGACCCTGTCCCAACACCAACACCTCCTCTCCAGCCCAATCTTCTGGGTCCAGACCTGCTTGTCCCTTTTTTAGAAAACACTTTTAAACTTTTTAAAAATTTTAAACCTTTTTTCAGCAGATATGGAGAGAGCTGACAATCAATTCACATTTTTTAAGCCATTTTAGCTAAACTGTCATTGTGCATCTCTGAGGTTCCCTCATGGAGCTCCACAGATCCATTTTTAGGGAAGGGATTTTGGCTCAAAACGATCTGACCACCTCTGCCCTGTCCACCAGGATAAGTGACACCTAGGACCCAGGAAATAAATGCCGATGATTTGTGTGACTGGTTTAAGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTCTTTTCATCTTCTGGGAGGAAACTAGATTTGGCCGCATTGATGTTCTGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATT
GCCCCAGAGCAGCGATGGGACCACCTCGTCTTGAATCTGACCTTGTCCAAGAAGGCTGGACGAGAGACCTTCTGTCCCCTCCCAGAGGGGGAACCCTGGCACTGGCCCAGCAGCCTCTTCTCTGAGCTCCATGTCCCAGATAAACCAGGCCAGACTGAGAAGGCTCCCCAGAGGCCTCTGTGGCCTCCACTCCGGGAAAGCCCTCTGCCCACACCCACAGGCTTCACATTCCCACCACCTTCGCACCGTGCCCAGGTACACTTTCAAGACACTGTAACCACAAGATGTTATTTATTGAGCTGGCGCCGGGACTTGGGCGGGGCCTGCCCTACAGTGAGCAGCCCACACAGGAACGCTCCTCTCGCGAGCGGCCCGGGCAGGGACCCTGTCCCAACACCAACACCTCCTCTCCAGCCCAATCTTCTGGGTCCAGACCTGCTTGTCCCTTTTTTAGAAAACACTTTTAAACTTTTTAAAAATTTTAAACCTTTTTTCAGCAGATATGGAGAGAGCTGACAATCAATTCACATTTTTTAAGCCATTTTAGCTAAACTGTCATTGTGCATCTCTGAGGTTCCCTCATGGAGCTCCACAGATCCATTTTTAGGGAAGGGATTTTGGCTCAAAACGATCTGACCACCTCTGCCCTGTCCACCAGGATAAGTGACACCTAGGACCCAGGAAATAAATGCCGATGATTTGTGTGACTGGTTTAAGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTCTTTTCATCTTCTGGGAGGAAACGATTTGGCCGCATTGATGTTCTGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTNN
pathogenic
313,862
Clinical classification of chromosome 20, position 44620397, gene ADA (adenosine deaminase): benign or pathogenic? Disease(s) if pathogenic?
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
GACCACCTCGTCTTGAATCTGACCTTGTCCAAGAAGGCTGGACGAGAGACCTTCTGTCCCCTCCCAGAGGGGGAACCCTGGCACTGGCCCAGCAGCCTCTTCTCTGAGCTCCATGTCCCAGATAAACCAGGCCAGACTGAGAAGGCTCCCCAGAGGCCTCTGTGGCCTCCACTCCGGGAAAGCCCTCTGCCCACACCCACAGGCTTCACATTCCCACCACCTTCGCACCGTGCCCAGGTACACTTTCAAGACACTGTAACCACAAGATGTTATTTATTGAGCTGGCGCCGGGACTTGGGCGGGGCCTGCCCTACAGTGAGCAGCCCACACAGGAACGCTCCTCTCGCGAGCGGCCCGGGCAGGGACCCTGTCCCAACACCAACACCTCCTCTCCAGCCCAATCTTCTGGGTCCAGACCTGCTTGTCCCTTTTTTAGAAAACACTTTTAAACTTTTTAAAAATTTTAAACCTTTTTTCAGCAGATATGGAGAGAGCTGACAATCAATTCACATTTTTTAAGCCATTTTAGCTAAACTGTCATTGTGCATCTCTGAGGTTCCCTCATGGAGCTCCACAGATCCATTTTTAGGGAAGGGATTTTGGCTCAAAACGATCTGACCACCTCTGCCCTGTCCACCAGGATAAGTGACACCTAGGACCCAGGAAATAAATGCCGATGATTTGTGTGACTGGTTTAAGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTCTTTTCATCTTCTGGGAGGAAACTAGATTTGGCCGCATTGATGTTCTGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAG
GACCACCTCGTCTTGAATCTGACCTTGTCCAAGAAGGCTGGACGAGAGACCTTCTGTCCCCTCCCAGAGGGGGAACCCTGGCACTGGCCCAGCAGCCTCTTCTCTGAGCTCCATGTCCCAGATAAACCAGGCCAGACTGAGAAGGCTCCCCAGAGGCCTCTGTGGCCTCCACTCCGGGAAAGCCCTCTGCCCACACCCACAGGCTTCACATTCCCACCACCTTCGCACCGTGCCCAGGTACACTTTCAAGACACTGTAACCACAAGATGTTATTTATTGAGCTGGCGCCGGGACTTGGGCGGGGCCTGCCCTACAGTGAGCAGCCCACACAGGAACGCTCCTCTCGCGAGCGGCCCGGGCAGGGACCCTGTCCCAACACCAACACCTCCTCTCCAGCCCAATCTTCTGGGTCCAGACCTGCTTGTCCCTTTTTTAGAAAACACTTTTAAACTTTTTAAAAATTTTAAACCTTTTTTCAGCAGATATGGAGAGAGCTGACAATCAATTCACATTTTTTAAGCCATTTTAGCTAAACTGTCATTGTGCATCTCTGAGGTTCCCTCATGGAGCTCCACAGATCCATTTTTAGGGAAGGGATTTTGGCTCAAAACGATCTGACCACCTCTGCCCTGTCCACCAGGATAAGTGACACCTAGGACCCAGGAAATAAATGCCGATGATTTGTGTGACTGGTTTAAGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTCTTTTCATCTTCTGGGAGGAAACTAGATTTGGCCGCATTGATGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGNNNNN
pathogenic
313,864
Considering the variant on chromosome 20, location 44621022, involving gene ADA (adenosine deaminase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
TGCCCTGTCCACCAGGATAAGTGACACCTAGGACCCAGGAAATAAATGCCGATGATTTGTGTGACTGGTTTAAGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTCTTTTCATCTTCTGGGAGGAAACTAGATTTGGCCGCATTGATGTTCTGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTT
TGCCCTGTCCACCAGGATAAGTGACACCTAGGACCCAGGAAATAAATGCCGATGATTTGTGTGACTGGTTTAAGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTCTTTTCATCTTCTGGGAGGAAACTAGATTTGGCCGCATTGATGTTCTGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTN
pathogenic
313,870
Clinically, how would you classify the variant at chromosome 20, position 44621032, gene ADA (adenosine deaminase): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
ACCAGGATAAGTGACACCTAGGACCCAGGAAATAAATGCCGATGATTTGTGTGACTGGTTTAAGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTCTTTTCATCTTCTGGGAGGAAACTAGATTTGGCCGCATTGATGTTCTGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCC
ACCAGGATAAGTGACACCTAGGACCCAGGAAATAAATGCCGATGATTTGTGTGACTGGTTTAAGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTCTTTTCATCTTCTGGGAGGAAACTAGATTTGGCCGCATTGATGTTCTGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCNNNNN
pathogenic
313,871
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 20, position 44621094, gene ADA (adenosine deaminase). What disease(s) is it linked to if pathogenic?
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
AGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTCTTTTCATCTTCTGGGAGGAAACTAGATTTGGCCGCATTGATGTTCTGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTG
AGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTCTTTTCATCTTCTGGGAGGAAACTAGATTTGGCCGCATTGATGTTCTGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGATTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGNNNNNNNNNNNNNNNNNNNN
pathogenic
313,875
Is the genetic mutation found on chromosome 20 at position 44621138, within the gene ADA (adenosine deaminase), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
TTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTCTTTTCATCTTCTGGGAGGAAACTAGATTTGGCCGCATTGATGTTCTGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTT
TTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTCTTTTCATCTTCTGGGAGGAAACTAGATTTGGCCGCATTGATGTTCTGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCT
pathogenic
313,879
Evaluate the clinical significance of the mutation at chromosome 20, position 44622642 in gene ADA (adenosine deaminase): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
ATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGC
ATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCN
pathogenic
313,885
Variant in ADA (adenosine deaminase), chromosome 20, position 44622647—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
AAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGA
AAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGACCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGC
pathogenic
313,886
The mutation impacting ADA (adenosine deaminase) on chromosome 20 at position 44622903: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
ACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGC
ACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCN
pathogenic
313,895
Variant in ADA (adenosine deaminase), chromosome 20, position 44622918—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
CTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGC
CTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTG
pathogenic
313,898
Variant in ADA (adenosine deaminase), chromosome 20, position 44623036—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
TCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGC
TCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTG
pathogenic
313,900
Is the genetic mutation found on chromosome 20 at position 44624230, within the gene ADA (adenosine deaminase), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
TGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGA
TGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGG
pathogenic
313,911
Is the genetic variant on chromosome 20, position 44624275, gene ADA (adenosine deaminase), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
GAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAG
GAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGA
pathogenic
313,914
Clinical significance of chromosome 20, position 44624275, gene ADA (adenosine deaminase): benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['ADA-related_disorder', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency', 'Severe_combined_immunodeficiency_disease']
GAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAG
GAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGN
pathogenic
313,915
Classify the chromosome 20 variant at position 44625636 affecting gene ADA (adenosine deaminase) as benign or pathogenic. If pathogenic, which disease(s) is associated?
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
TCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGG
TCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGN
pathogenic
313,928
A genetic alteration at chromosome 20, position 44625642, in gene ADA (adenosine deaminase)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
CCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAG
CCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCT
pathogenic
313,929
The chromosome 20, position 44625650 genetic variant in gene ADA (adenosine deaminase): benign or pathogenic? If pathogenic, indicate disease(s).
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency', 'Severe_combined_immunodeficiency_disease']
AGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAA
AGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCA
pathogenic
313,931
Variant in gene ADA (adenosine deaminase), located at chromosome 20 position 44625679: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
TGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGC
TGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGCN
pathogenic
313,937
Does the chromosome 20 mutation at position 44625679 within gene ADA (adenosine deaminase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency', 'Severe_combined_immunodeficiency_disease']
TGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGC
TGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGCNN
pathogenic
313,938
Evaluate this variant at chromosome 20, position 44626447, gene ADA (adenosine deaminase): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
CTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGCAGGGAAGAGAAATGAGAGAAAAGGACACAGCTGGACAAGTCCAGAGGGATGCCTGGATGTGGGAGACACGTGGGATACAGTCATGGACTTGGATCCTTGTGCCCACACTTATCTGCTGTGTGACCCCTGGTTAGTCACCCTCTGACACCTAGGTCAAGGAGTTATTGCGGGGACAAATGAGTCAAACTTCATAAACCCCACCCGGGTCAGTGCTTGGAGCAGAGCGGACAAATGCTCAAAACATTTTCGTTGTTATTACTGCATGTTTGTTCCAGAAGCAAGGCACAAATTGGCCTGCCAGGGCCACTGTGTTGATCACGTAACGGTGGACTGTGCTTAGCTGGAAGTTCCCACCATGAAGAGTGAAAATGAAGTGGTTACTAGAATGTGTGAGGGAAGGCACACAAGTGCTGGGAGAGCCCAGCGTGGGAAGAAAGTGCCCTGCCCAGGGGAGATCAGGCCACTCTCAGGAGAAGGGGTCACCAGAAGTTCTTGCATCTTCAGGATGAGGATGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCAAACATAGTAAAACCCCATCTCTACTAAAAATACAAAACCATTAGTTGGGTGTGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTAAAGCAGGAGAATCCCTTAAACTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTT
CTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGCAGGGAAGAGAAATGAGAGAAAAGGACACAGCTGGACAAGTCCAGAGGGATGCCTGGATGTGGGAGACACGTGGGATACAGTCATGGACTTGGATCCTTGTGCCCACACTTATCTGCTGTGTGACCCCTGGTTAGTCACCCTCTGACACCTAGGTCAAGGAGTTATTGCGGGGACAAATGAGTCAAACTTCATAAACCCCACCCGGGTCAGTGCTTGGAGCAGAGCGGACAAATGCTCAAAACATTTTCGTTGTTATTACTGCATGTTTGTTCCAGAAGCAAGGCACAAATTGGCCTGCCAGGGCCACTGTGTTGATCACGTAACGGTGGACTGTGCTTAGCTGGAAGTTCCCACCATGAAGAGTGAAAATGAAGTGGTTACTAGAATGTGTGAGGGAAGGCACACAAGTGCTGGGAGAGCCCAGCGTGGGAAGAAAGTGCCCTGCCCAGGGGAGATCAGGCCACTCTCAGGAGAAGGGGTCACCAGAAGTTCTTGCATCTTCAGGATGAGGATGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCAAACATAGTAAAACCCCATCTCTACTAAAAATACAAAACCATTAGTTGGGTGTGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTAAAGCAGGAGAATCCCTTAAACTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTTNNNN
pathogenic
313,940
Variant chromosome 20, position 45419425, gene PIGT (phosphatidylinositol glycan anchor biosynthesis class T): benign or pathogenic? Disease(s)?
benign
GAATTGTGGCAGGCTAGAGAGTTTGTGTGACATTCTAACGAGGACAGCTCTGCCACTCAGCTTCTATGGATTGTTGCCATGTGGGAATAGAGGCCTAATGTGGTCAGAGTCAAATGTTTCTAAAAATTTTTTGTAGAAACAAGGTCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCAAGAGCCACCACACCTGGCCTCATTTTTCAAGAGATACCAGAAATCTGGAATTTAATGTGAAAATTGGCAAATTCAAATATCAGCAAGTAATTTAAAAATTTTTTGAGTGCTGTGCGGGTCAATGTTGTGCATACCAAATGAAGCATGTTTATGGTTTGAGTAGAGCTTTCCGGCTTCAAGTTTGCCATTTTTATTTGAGGCTTAAGGATTGGAGCAGTTGAAAAGCTCTGAACATAGAATTATCAAAAGCTCCTGGACAACACTAAGGAATAAGGAATAAGCAGTAACTCCCCAGCTTGCCAAGACTTTCTCTCTTGCCTCAACTCTGGCTCCCCTACCCTTTCCTGTCTACTCTGCTGTCACTGTCTTCCCTCAGCCCGTAATTGCCTGAAATGTGGAGCAAATGCTTAGAATTCTTTCTAGTGCTTATTAAGTTTTATGCTTTCTCTATTACTGAGAGCAAATCTCTTTTGATATTTCTCCAAGAAAAGAACATTAATTTAATTTGATGTTTTTATGAAATCCTAGAACAGTTGTTTTTCCCATGTTCAGTGAGCTTTTTTGGATATAAGACTTCTCACCATGATAGTAGAATCAGGACTTACCTTTATTCCCAGAGTATACACAGGGTAGTATGCATTGTTTTGCCCAGCCCAGCACATTCAAGGAAGATCAGTGAGCTCATTTCAGCTCTGATACATGAGGCGCTTTCCATGGTGTCAGGGGAAGTACATAGATGACCCAGACTGGTCCTTGTCCTCAAGTTGCTTACAGCCTAGTTAGGGAGAAAAGGTGGTCAGGACACGATGCTGCTGCCACCTAGCCATCTCCCAGGAGGGACCTAGTAAGATGCTTGGATGGTCAGAACCGTGACTGCACAGAGGAGACTGTGCTTAAGGAGGGCAGGAAAGGCTTCGTGGAGGGGAGGTAAGCACTGGAGCCGGATCATGAAGGTAGGCAGAAAGAAGTTAGCAAAGGCTTGCAAGGAAGGAAGAATCACCTGAGCAGAGACCCATGGGGATGCAGAGATGTCCAGAGGAGAGTGAGGAAGAAGGGGCTGAGTAGGATGAGACCCAGCAAGTGGGCTGGCTGGGGGCAGCAATGTTCCAGCTCCATCAACTGGCCCGTCTAATAGTTAAGAATACAGCCTCCTCCTATCATAGGTTTAGCAGCCAGCTGTGGACTTTGAAAGAGGGAGCAGAGGTAGCCCCAGGACAGTGAGTGGATTTGTGTCTCTATCCAGTGTGGATAAATCTTGGAAGGAGCTCAGTAATGTCCTCTCAGGGATCTTCTGCGCCTCTCTCAACTTCATCGACTCCACCAACACAGTCACTCCCACTGCCTCCTTCAAACCCCTGGGTCTGGCCAATGGTGAGATAACCCCTACAGCCCTTTCCTTCTTCCTCTTACCTCCTGCCCAAACCTTTGCCTCCTTTTCCCTCAGTTTCCTGCTTCCTCAGCCTGGGCTAGATCCTAAGTCCCCTGTGTGTGCAGGCCCCCAATACTGTGCCATCTCTGCATGCCTTTTCCCAAGGAGAGAAGGGAGTCCTACTCCCAGTTGGGACTGTCCAGACTGTGGTGCTAGAGGTGGTGTGGGGAGCAGGAGGGTCATTCCCATCTCTGGAATGTGGATCCCGAGGGGTCAGAGCCCAAGGCCCACCCCAGACAGACCTCTGTCTCCCTCAGACACTGACCACTACTTTCTGCGCTATGCTGTGCTGCCGCGGGAGGTGGTCTGCACCGAAAACCTCACCCCCTGGAAGAAGCTCTTGCCCTGTAGTTCCAAGGTGAGGCCGCAGAGCCTGGCAGCCGGGGGCGGGGGGTGTATAGAGAACCTGCGCCCCATGCCAAGTGCTCCATACAGGGCTTCTCTTATCTCTTTCCATCTCCTCCAGGCAGGCCTCTCTGTGCTGCTGAAGGCAGATCGCTTGTTCCACACCAGCTACCACTCCCAGGCAGTGCATATCCGCCCTGTTTGCAGAGTAAGTCATGGGGAGTAGAGGAAGCTGCCATCCAGGGGCTCAGAGAAGGTACATGTAAAGCATGTGGTCAGTGTCTGGCTCAGGCTGAGTGAGTACTGAGTGGTAGATGTGATGACGGTTATTCAGGGCATTGGCCAAGCACCAAGAAAACAGTGGTTGCCTAGCAAGCACTGAATAAATATTTGTCATGGAAAATAGTGGTTCAGAACAATAGCTATGCGGGTGCAATTGCTAGCTCAGTCACTTGCCAGCTGGCGTAACCTTGGGTGAATCATTTCATTCCCCTGAGCTTGGTTTCCCACCCTGCCACATGACATTGATAGTAGAATCCACTCCTAGGGTTGTTGTGATAGTTTATCAAACTGATGCACATACAGCTGTCAGCACGGGGTCTGGCACGAGGTCAAGTGCTCAGGAGTGGGTGGTAGCAAATCGATGGATGTGAAGATACATAGATGAGGGATTGAGTCTGAGTAGGAGTCTTTTTGGGGGCTGTGTGGTGAGAGTGATACCCCCTCACTGCTGCCATCTGGCCCTTGTGATAGAATGCACGCTGTACTAGCATCTCCTGGGAGCTGAGGCAGACCCTGTCAGTTGTATTTGATGCCTTCATCACGGGGCAGGGAAAGAAAGGTAAGTTACCTTGGCAACTCATCTGTACCCACCCATGCCAGCCCTGCCTTATCTATGTGGACTAGGCCTAGGCCTGGCCCCTGCTCAGCCCTGCGCTCTGTTTCTCAGACTGGTCCCTCTTCCGGATGTTCTCCCGAACCCTCACGGAGCCCTGCCCCCTGGCTTCAGAGAGCCGAGTCTATGTGGACATCACCACCTACAACCAGGTAACAAGGTCTCCAGCCACACACACAAACACACCGCTGGTCCCCAGGACCAGCCTACCCTCTCTGCTTGCTTCTTAGCCCTGCCTTTGTGTCCCCAGGACAACGAGACATTAGAGGTGCACCCACCCCCGACCACTACATATCAGGACGTCATCCTAGGCACTCGGAAGACCTATGCCATCTATGACTTGCTTGACACCGCCATGATCAACAACTCTCGAAACCTCAACATCCAGCTCAAGTGGAAGAGACCCCCAGAGAATGGTGAGTGGGTGGTTGGTTGGACTGCTGGGTTGCAACGGCTACAGAGAAAAGACTCACAATCCCACGTCTTTGCCGTTAGATGATTGGGTTGTATTTAGACCAGATTTCCAGAGTCATATGCTGCTGACTGTAGCTATTCCAAGCTCTACGATTTTGGGTAGGTTCCTAAACTCCCCAAGCTTCAGCATCCACATCTGAAAAATAGAGTATACTTAGCAAATTGGATGAGATGATGTGAAAAATGGAGTTAGTTCATGCATTTGCTTAATCAACCAAATACTTTTGAATTCATACTAAGTGCCAGGCATAGAGTGTTGAATAAGACAGAGGACACTGCACTCAAGAAATATAAGTCTACTAGCTAGGGCAGGTGTCAGTTAATTAATTACAGTTGTGTTCAGTTCCCTTACCAAGGGAAAGAGCAGAATATCCTGAGAGGACCTGGATTGGGTTCGAAGGGGGCACGGTGTTCGTCACGTAAGCACTTCAATACTAGCAACCTATTGTCATCATCGCTTGTTGGCTGGGGAAGACAGGGATGATTCCAGAACCCAGATTGCCCAGTTTCAGTGGCAGGGCTGTTCCCCATCTACTCACTGGCTTGGGACTCTGAACATGGCCTGGGCAGGTGGGGTGGGGAGTGATTCTTACCTTTGGCAGCTGTTAACTGTTGATATTTCTTTACACAGAGGCCCCCCCAGTGCCCTTCCTGCATGCCCAGCGGTACGTGAGTGGCTATGGGCTGCAGAAGGGGGAGCTGAGCACACTGCTGTACAACA
GAATTGTGGCAGGCTAGAGAGTTTGTGTGACATTCTAACGAGGACAGCTCTGCCACTCAGCTTCTATGGATTGTTGCCATGTGGGAATAGAGGCCTAATGTGGTCAGAGTCAAATGTTTCTAAAAATTTTTTGTAGAAACAAGGTCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCAAGAGCCACCACACCTGGCCTCATTTTTCAAGAGATACCAGAAATCTGGAATTTAATGTGAAAATTGGCAAATTCAAATATCAGCAAGTAATTTAAAAATTTTTTGAGTGCTGTGCGGGTCAATGTTGTGCATACCAAATGAAGCATGTTTATGGTTTGAGTAGAGCTTTCCGGCTTCAAGTTTGCCATTTTTATTTGAGGCTTAAGGATTGGAGCAGTTGAAAAGCTCTGAACATAGAATTATCAAAAGCTCCTGGACAACACTAAGGAATAAGGAATAAGCAGTAACTCCCCAGCTTGCCAAGACTTTCTCTCTTGCCTCAACTCTGGCTCCCCTACCCTTTCCTGTCTACTCTGCTGTCACTGTCTTCCCTCAGCCCGTAATTGCCTGAAATGTGGAGCAAATGCTTAGAATTCTTTCTAGTGCTTATTAAGTTTTATGCTTTCTCTATTACTGAGAGCAAATCTCTTTTGATATTTCTCCAAGAAAAGAACATTAATTTAATTTGATGTTTTTATGAAATCCTAGAACAGTTGTTTTTCCCATGTTCAGTGAGCTTTTTTGGATATAAGACTTCTCACCATGATAGTAGAATCAGGACTTACCTTTATTCCCAGAGTATACACAGGGTAGTATGCATTGTTTTGCCCAGCCCAGCACATTCAAGGAAGATCAGTGAGCTCATTTCAGCTCTGATACATGAGGCGCTTTCCATGGTGTCAGGGGAAGTACATAGATGACCCAGACTGGTCCTTGTCCTCAAGTTGCTTACAGCCTAGTTAGGGAGAAAAGGTGGTCAGGACACGATGCTGCTGCCACCTAGCCATCTCCCAGGAGGGACCTAGTAAGATGCTTGGATGGTCAGAACCGTGACTGCACAGAGGAGACTGTGCTTAAGGAGGGCAGGAAAGGCTTCGTGGAGGGGAGGTAAGCACTGGAGCCGGATCATGAAGGTAGGCAGAAAGAAGTTAGCAAAGGCTTGCAAGGAAGGAAGAATCACCTGAGCAGAGACCCATGGGGATGCAGAGATGTCCAGAGGAGAGTGAGGAAGAAGGGGCTGAGTAGGATGAGACCCAGCAAGTGGGCTGGCTGGGGGCAGCAATGTTCCAGCTCCATCAACTGGCCCGTCTAATAGTTAAGAATACAGCCTCCTCCTATCATAGGTTTAGCAGCCAGCTGTGGACTTTGAAAGAGGGAGCAGAGGTAGCCCCAGGACAGTGAGTGGATTTGTGTCTCTATCCAGTGTGGATAAATCTTGGAAGGAGCTCAGTAATGTCCTCTCAGGGATCTTCTGCGCCTCTCTCAACTTCATCGACTCCACCAACACAGTCACTCCCACTGCCTCCTTCAAACCCCTGGGTCTGGCCAATGGTGAGATAACCCCTACAGCCCTTTCCTTCTTCCTCTTACCTCCTGCCCAAACCTTTGCCTCCTTTTCCCTCAGTTTCCTGCTTCCTCAGCCTGGGCTAGATCCTAAGTCCCCTGTGTGTGCAGGCCCCCAATACTGTGCCATCTCTGCATGCCTTTTCCCAAGGAGAGAAGGGAGTCCTACTCCCAGTTGGGACTGTCCAGACTGTGGTGCTAGAGGTGGTGTGGGGAGCAGGAGGGTCATTCCCATCTCTGGAATGTGGATCCCGAGGGGTCAGAGCCCAAGGCCCACCCCAGACAGACCTCTGTCTCCCTCAGACACTGACCACTACTTTCTGCGCTATGCTGTGCTGCCGCGGGAGGTGGTCTGCACCGAAAACCTCACCCCCTGGAAGAAGCTCTTGCCCTGTAGTTCCAAGGTGAGGCCGCAGAGCCTGGCAGCCGGGGGCGGGGGGGTGTATAGAGAACCTGCGCCCCATGCCAAGTGCTCCATACAGGGCTTCTCTTATCTCTTTCCATCTCCTCCAGGCAGGCCTCTCTGTGCTGCTGAAGGCAGATCGCTTGTTCCACACCAGCTACCACTCCCAGGCAGTGCATATCCGCCCTGTTTGCAGAGTAAGTCATGGGGAGTAGAGGAAGCTGCCATCCAGGGGCTCAGAGAAGGTACATGTAAAGCATGTGGTCAGTGTCTGGCTCAGGCTGAGTGAGTACTGAGTGGTAGATGTGATGACGGTTATTCAGGGCATTGGCCAAGCACCAAGAAAACAGTGGTTGCCTAGCAAGCACTGAATAAATATTTGTCATGGAAAATAGTGGTTCAGAACAATAGCTATGCGGGTGCAATTGCTAGCTCAGTCACTTGCCAGCTGGCGTAACCTTGGGTGAATCATTTCATTCCCCTGAGCTTGGTTTCCCACCCTGCCACATGACATTGATAGTAGAATCCACTCCTAGGGTTGTTGTGATAGTTTATCAAACTGATGCACATACAGCTGTCAGCACGGGGTCTGGCACGAGGTCAAGTGCTCAGGAGTGGGTGGTAGCAAATCGATGGATGTGAAGATACATAGATGAGGGATTGAGTCTGAGTAGGAGTCTTTTTGGGGGCTGTGTGGTGAGAGTGATACCCCCTCACTGCTGCCATCTGGCCCTTGTGATAGAATGCACGCTGTACTAGCATCTCCTGGGAGCTGAGGCAGACCCTGTCAGTTGTATTTGATGCCTTCATCACGGGGCAGGGAAAGAAAGGTAAGTTACCTTGGCAACTCATCTGTACCCACCCATGCCAGCCCTGCCTTATCTATGTGGACTAGGCCTAGGCCTGGCCCCTGCTCAGCCCTGCGCTCTGTTTCTCAGACTGGTCCCTCTTCCGGATGTTCTCCCGAACCCTCACGGAGCCCTGCCCCCTGGCTTCAGAGAGCCGAGTCTATGTGGACATCACCACCTACAACCAGGTAACAAGGTCTCCAGCCACACACACAAACACACCGCTGGTCCCCAGGACCAGCCTACCCTCTCTGCTTGCTTCTTAGCCCTGCCTTTGTGTCCCCAGGACAACGAGACATTAGAGGTGCACCCACCCCCGACCACTACATATCAGGACGTCATCCTAGGCACTCGGAAGACCTATGCCATCTATGACTTGCTTGACACCGCCATGATCAACAACTCTCGAAACCTCAACATCCAGCTCAAGTGGAAGAGACCCCCAGAGAATGGTGAGTGGGTGGTTGGTTGGACTGCTGGGTTGCAACGGCTACAGAGAAAAGACTCACAATCCCACGTCTTTGCCGTTAGATGATTGGGTTGTATTTAGACCAGATTTCCAGAGTCATATGCTGCTGACTGTAGCTATTCCAAGCTCTACGATTTTGGGTAGGTTCCTAAACTCCCCAAGCTTCAGCATCCACATCTGAAAAATAGAGTATACTTAGCAAATTGGATGAGATGATGTGAAAAATGGAGTTAGTTCATGCATTTGCTTAATCAACCAAATACTTTTGAATTCATACTAAGTGCCAGGCATAGAGTGTTGAATAAGACAGAGGACACTGCACTCAAGAAATATAAGTCTACTAGCTAGGGCAGGTGTCAGTTAATTAATTACAGTTGTGTTCAGTTCCCTTACCAAGGGAAAGAGCAGAATATCCTGAGAGGACCTGGATTGGGTTCGAAGGGGGCACGGTGTTCGTCACGTAAGCACTTCAATACTAGCAACCTATTGTCATCATCGCTTGTTGGCTGGGGAAGACAGGGATGATTCCAGAACCCAGATTGCCCAGTTTCAGTGGCAGGGCTGTTCCCCATCTACTCACTGGCTTGGGACTCTGAACATGGCCTGGGCAGGTGGGGTGGGGAGTGATTCTTACCTTTGGCAGCTGTTAACTGTTGATATTTCTTTACACAGAGGCCCCCCCAGTGCCCTTCCTGCATGCCCAGCGGTACGTGAGTGGCTATGGGCTGCAGAAGGGGGAGCTGAGCACACTGCTGTACAAC
benign
314,008
The chromosome 20, position 45419514 genetic variant in gene PIGT (phosphatidylinositol glycan anchor biosynthesis class T): benign or pathogenic? If pathogenic, indicate disease(s).
pathogenic; ['Inborn_genetic_diseases']
GAGGCCTAATGTGGTCAGAGTCAAATGTTTCTAAAAATTTTTTGTAGAAACAAGGTCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCAAGAGCCACCACACCTGGCCTCATTTTTCAAGAGATACCAGAAATCTGGAATTTAATGTGAAAATTGGCAAATTCAAATATCAGCAAGTAATTTAAAAATTTTTTGAGTGCTGTGCGGGTCAATGTTGTGCATACCAAATGAAGCATGTTTATGGTTTGAGTAGAGCTTTCCGGCTTCAAGTTTGCCATTTTTATTTGAGGCTTAAGGATTGGAGCAGTTGAAAAGCTCTGAACATAGAATTATCAAAAGCTCCTGGACAACACTAAGGAATAAGGAATAAGCAGTAACTCCCCAGCTTGCCAAGACTTTCTCTCTTGCCTCAACTCTGGCTCCCCTACCCTTTCCTGTCTACTCTGCTGTCACTGTCTTCCCTCAGCCCGTAATTGCCTGAAATGTGGAGCAAATGCTTAGAATTCTTTCTAGTGCTTATTAAGTTTTATGCTTTCTCTATTACTGAGAGCAAATCTCTTTTGATATTTCTCCAAGAAAAGAACATTAATTTAATTTGATGTTTTTATGAAATCCTAGAACAGTTGTTTTTCCCATGTTCAGTGAGCTTTTTTGGATATAAGACTTCTCACCATGATAGTAGAATCAGGACTTACCTTTATTCCCAGAGTATACACAGGGTAGTATGCATTGTTTTGCCCAGCCCAGCACATTCAAGGAAGATCAGTGAGCTCATTTCAGCTCTGATACATGAGGCGCTTTCCATGGTGTCAGGGGAAGTACATAGATGACCCAGACTGGTCCTTGTCCTCAAGTTGCTTACAGCCTAGTTAGGGAGAAAAGGTGGTCAGGACACGATGCTGCTGCCACCTAGCCATCTCCCAGGAGGGACCTAGTAAGATGCTTGGATGGTCAGAACCGTGACTGCACAGAGGAGACTGTGCTTAAGGAGGGCAGGAAAGGCTTCGTGGAGGGGAGGTAAGCACTGGAGCCGGATCATGAAGGTAGGCAGAAAGAAGTTAGCAAAGGCTTGCAAGGAAGGAAGAATCACCTGAGCAGAGACCCATGGGGATGCAGAGATGTCCAGAGGAGAGTGAGGAAGAAGGGGCTGAGTAGGATGAGACCCAGCAAGTGGGCTGGCTGGGGGCAGCAATGTTCCAGCTCCATCAACTGGCCCGTCTAATAGTTAAGAATACAGCCTCCTCCTATCATAGGTTTAGCAGCCAGCTGTGGACTTTGAAAGAGGGAGCAGAGGTAGCCCCAGGACAGTGAGTGGATTTGTGTCTCTATCCAGTGTGGATAAATCTTGGAAGGAGCTCAGTAATGTCCTCTCAGGGATCTTCTGCGCCTCTCTCAACTTCATCGACTCCACCAACACAGTCACTCCCACTGCCTCCTTCAAACCCCTGGGTCTGGCCAATGGTGAGATAACCCCTACAGCCCTTTCCTTCTTCCTCTTACCTCCTGCCCAAACCTTTGCCTCCTTTTCCCTCAGTTTCCTGCTTCCTCAGCCTGGGCTAGATCCTAAGTCCCCTGTGTGTGCAGGCCCCCAATACTGTGCCATCTCTGCATGCCTTTTCCCAAGGAGAGAAGGGAGTCCTACTCCCAGTTGGGACTGTCCAGACTGTGGTGCTAGAGGTGGTGTGGGGAGCAGGAGGGTCATTCCCATCTCTGGAATGTGGATCCCGAGGGGTCAGAGCCCAAGGCCCACCCCAGACAGACCTCTGTCTCCCTCAGACACTGACCACTACTTTCTGCGCTATGCTGTGCTGCCGCGGGAGGTGGTCTGCACCGAAAACCTCACCCCCTGGAAGAAGCTCTTGCCCTGTAGTTCCAAGGTGAGGCCGCAGAGCCTGGCAGCCGGGGGCGGGGGGTGTATAGAGAACCTGCGCCCCATGCCAAGTGCTCCATACAGGGCTTCTCTTATCTCTTTCCATCTCCTCCAGGCAGGCCTCTCTGTGCTGCTGAAGGCAGATCGCTTGTTCCACACCAGCTACCACTCCCAGGCAGTGCATATCCGCCCTGTTTGCAGAGTAAGTCATGGGGAGTAGAGGAAGCTGCCATCCAGGGGCTCAGAGAAGGTACATGTAAAGCATGTGGTCAGTGTCTGGCTCAGGCTGAGTGAGTACTGAGTGGTAGATGTGATGACGGTTATTCAGGGCATTGGCCAAGCACCAAGAAAACAGTGGTTGCCTAGCAAGCACTGAATAAATATTTGTCATGGAAAATAGTGGTTCAGAACAATAGCTATGCGGGTGCAATTGCTAGCTCAGTCACTTGCCAGCTGGCGTAACCTTGGGTGAATCATTTCATTCCCCTGAGCTTGGTTTCCCACCCTGCCACATGACATTGATAGTAGAATCCACTCCTAGGGTTGTTGTGATAGTTTATCAAACTGATGCACATACAGCTGTCAGCACGGGGTCTGGCACGAGGTCAAGTGCTCAGGAGTGGGTGGTAGCAAATCGATGGATGTGAAGATACATAGATGAGGGATTGAGTCTGAGTAGGAGTCTTTTTGGGGGCTGTGTGGTGAGAGTGATACCCCCTCACTGCTGCCATCTGGCCCTTGTGATAGAATGCACGCTGTACTAGCATCTCCTGGGAGCTGAGGCAGACCCTGTCAGTTGTATTTGATGCCTTCATCACGGGGCAGGGAAAGAAAGGTAAGTTACCTTGGCAACTCATCTGTACCCACCCATGCCAGCCCTGCCTTATCTATGTGGACTAGGCCTAGGCCTGGCCCCTGCTCAGCCCTGCGCTCTGTTTCTCAGACTGGTCCCTCTTCCGGATGTTCTCCCGAACCCTCACGGAGCCCTGCCCCCTGGCTTCAGAGAGCCGAGTCTATGTGGACATCACCACCTACAACCAGGTAACAAGGTCTCCAGCCACACACACAAACACACCGCTGGTCCCCAGGACCAGCCTACCCTCTCTGCTTGCTTCTTAGCCCTGCCTTTGTGTCCCCAGGACAACGAGACATTAGAGGTGCACCCACCCCCGACCACTACATATCAGGACGTCATCCTAGGCACTCGGAAGACCTATGCCATCTATGACTTGCTTGACACCGCCATGATCAACAACTCTCGAAACCTCAACATCCAGCTCAAGTGGAAGAGACCCCCAGAGAATGGTGAGTGGGTGGTTGGTTGGACTGCTGGGTTGCAACGGCTACAGAGAAAAGACTCACAATCCCACGTCTTTGCCGTTAGATGATTGGGTTGTATTTAGACCAGATTTCCAGAGTCATATGCTGCTGACTGTAGCTATTCCAAGCTCTACGATTTTGGGTAGGTTCCTAAACTCCCCAAGCTTCAGCATCCACATCTGAAAAATAGAGTATACTTAGCAAATTGGATGAGATGATGTGAAAAATGGAGTTAGTTCATGCATTTGCTTAATCAACCAAATACTTTTGAATTCATACTAAGTGCCAGGCATAGAGTGTTGAATAAGACAGAGGACACTGCACTCAAGAAATATAAGTCTACTAGCTAGGGCAGGTGTCAGTTAATTAATTACAGTTGTGTTCAGTTCCCTTACCAAGGGAAAGAGCAGAATATCCTGAGAGGACCTGGATTGGGTTCGAAGGGGGCACGGTGTTCGTCACGTAAGCACTTCAATACTAGCAACCTATTGTCATCATCGCTTGTTGGCTGGGGAAGACAGGGATGATTCCAGAACCCAGATTGCCCAGTTTCAGTGGCAGGGCTGTTCCCCATCTACTCACTGGCTTGGGACTCTGAACATGGCCTGGGCAGGTGGGGTGGGGAGTGATTCTTACCTTTGGCAGCTGTTAACTGTTGATATTTCTTTACACAGAGGCCCCCCCAGTGCCCTTCCTGCATGCCCAGCGGTACGTGAGTGGCTATGGGCTGCAGAAGGGGGAGCTGAGCACACTGCTGTACAACACCCACCCATACCGGGCCTTCCCGGTGCTGCTGCTGGACACCGTACCCTGGTATCTGCGGCTGTATGTGCACACCCTCACCATCACCTCC
GAGGCCTAATGTGGTCAGAGTCAAATGTTTCTAAAAATTTTTTGTAGAAACAAGGTCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCAAGAGCCACCACACCTGGCCTCATTTTTCAAGAGATACCAGAAATCTGGAATTTAATGTGAAAATTGGCAAATTCAAATATCAGCAAGTAATTTAAAAATTTTTTGAGTGCTGTGCGGGTCAATGTTGTGCATACCAAATGAAGCATGTTTATGGTTTGAGTAGAGCTTTCCGGCTTCAAGTTTGCCATTTTTATTTGAGGCTTAAGGATTGGAGCAGTTGAAAAGCTCTGAACATAGAATTATCAAAAGCTCCTGGACAACACTAAGGAATAAGGAATAAGCAGTAACTCCCCAGCTTGCCAAGACTTTCTCTCTTGCCTCAACTCTGGCTCCCCTACCCTTTCCTGTCTACTCTGCTGTCACTGTCTTCCCTCAGCCCGTAATTGCCTGAAATGTGGAGCAAATGCTTAGAATTCTTTCTAGTGCTTATTAAGTTTTATGCTTTCTCTATTACTGAGAGCAAATCTCTTTTGATATTTCTCCAAGAAAAGAACATTAATTTAATTTGATGTTTTTATGAAATCCTAGAACAGTTGTTTTTCCCATGTTCAGTGAGCTTTTTTGGATATAAGACTTCTCACCATGATAGTAGAATCAGGACTTACCTTTATTCCCAGAGTATACACAGGGTAGTATGCATTGTTTTGCCCAGCCCAGCACATTCAAGGAAGATCAGTGAGCTCATTTCAGCTCTGATACATGAGGCGCTTTCCATGGTGTCAGGGGAAGTACATAGATGACCCAGACTGGTCCTTGTCCTCAAGTTGCTTACAGCCTAGTTAGGGAGAAAAGGTGGTCAGGACACGATGCTGCTGCCACCTAGCCATCTCCCAGGAGGGACCTAGTAAGATGCTTGGATGGTCAGAACCGTGACTGCACAGAGGAGACTGTGCTTAAGGAGGGCAGGAAAGGCTTCGTGGAGGGGAGGTAAGCACTGGAGCCGGATCATGAAGGTAGGCAGAAAGAAGTTAGCAAAGGCTTGCAAGGAAGGAAGAATCACCTGAGCAGAGACCCATGGGGATGCAGAGATGTCCAGAGGAGAGTGAGGAAGAAGGGGCTGAGTAGGATGAGACCCAGCAAGTGGGCTGGCTGGGGGCAGCAATGTTCCAGCTCCATCAACTGGCCCGTCTAATAGTTAAGAATACAGCCTCCTCCTATCATAGGTTTAGCAGCCAGCTGTGGACTTTGAAAGAGGGAGCAGAGGTAGCCCCAGGACAGTGAGTGGATTTGTGTCTCTATCCAGTGTGGATAAATCTTGGAAGGAGCTCAGTAATGTCCTCTCAGGGATCTTCTGCGCCTCTCTCAACTTCATCGACTCCACCAACACAGTCACTCCCACTGCCTCCTTCAAACCCCTGGGTCTGGCCAATGGTGAGATAACCCCTACAGCCCTTTCCTTCTTCCTCTTACCTCCTGCCCAAACCTTTGCCTCCTTTTCCCTCAGTTTCCTGCTTCCTCAGCCTGGGCTAGATCCTAAGTCCCCTGTGTGTGCAGGCCCCCAATACTGTGCCATCTCTGCATGCCTTTTCCCAAGGAGAGAAGGGAGTCCTACTCCCAGTTGGGACTGTCCAGACTGTGGTGCTAGAGGTGGTGTGGGGAGCAGGAGGGTCATTCCCATCTCTGGAATGTGGATCCCGAGGGGTCAGAGCCCAAGGCCCACCCCAGACAGACCTCTGTCTCCCTCAGACACTGACCACTACTTTCTGCGCTATGCTGTGCTGCCGCGGGAGGTGGTCTGCACCGAAAACCTCACCCCCTGGAAGAAGCTCTTGCCCTGTAGTTCCAAGGTGAGGCCGCAGAGCCTGGCAGCCGGGGGCGGGGGGTGTATAGAGAACCTGCGCCCCATGCCAAGTGCTCCATACAGGGCTTCTCTTATCTCTTTCCATCTCCTCCAGGCAGGCCTCTCTGCTGCTGAAGGCAGATCGCTTGTTCCACACCAGCTACCACTCCCAGGCAGTGCATATCCGCCCTGTTTGCAGAGTAAGTCATGGGGAGTAGAGGAAGCTGCCATCCAGGGGCTCAGAGAAGGTACATGTAAAGCATGTGGTCAGTGTCTGGCTCAGGCTGAGTGAGTACTGAGTGGTAGATGTGATGACGGTTATTCAGGGCATTGGCCAAGCACCAAGAAAACAGTGGTTGCCTAGCAAGCACTGAATAAATATTTGTCATGGAAAATAGTGGTTCAGAACAATAGCTATGCGGGTGCAATTGCTAGCTCAGTCACTTGCCAGCTGGCGTAACCTTGGGTGAATCATTTCATTCCCCTGAGCTTGGTTTCCCACCCTGCCACATGACATTGATAGTAGAATCCACTCCTAGGGTTGTTGTGATAGTTTATCAAACTGATGCACATACAGCTGTCAGCACGGGGTCTGGCACGAGGTCAAGTGCTCAGGAGTGGGTGGTAGCAAATCGATGGATGTGAAGATACATAGATGAGGGATTGAGTCTGAGTAGGAGTCTTTTTGGGGGCTGTGTGGTGAGAGTGATACCCCCTCACTGCTGCCATCTGGCCCTTGTGATAGAATGCACGCTGTACTAGCATCTCCTGGGAGCTGAGGCAGACCCTGTCAGTTGTATTTGATGCCTTCATCACGGGGCAGGGAAAGAAAGGTAAGTTACCTTGGCAACTCATCTGTACCCACCCATGCCAGCCCTGCCTTATCTATGTGGACTAGGCCTAGGCCTGGCCCCTGCTCAGCCCTGCGCTCTGTTTCTCAGACTGGTCCCTCTTCCGGATGTTCTCCCGAACCCTCACGGAGCCCTGCCCCCTGGCTTCAGAGAGCCGAGTCTATGTGGACATCACCACCTACAACCAGGTAACAAGGTCTCCAGCCACACACACAAACACACCGCTGGTCCCCAGGACCAGCCTACCCTCTCTGCTTGCTTCTTAGCCCTGCCTTTGTGTCCCCAGGACAACGAGACATTAGAGGTGCACCCACCCCCGACCACTACATATCAGGACGTCATCCTAGGCACTCGGAAGACCTATGCCATCTATGACTTGCTTGACACCGCCATGATCAACAACTCTCGAAACCTCAACATCCAGCTCAAGTGGAAGAGACCCCCAGAGAATGGTGAGTGGGTGGTTGGTTGGACTGCTGGGTTGCAACGGCTACAGAGAAAAGACTCACAATCCCACGTCTTTGCCGTTAGATGATTGGGTTGTATTTAGACCAGATTTCCAGAGTCATATGCTGCTGACTGTAGCTATTCCAAGCTCTACGATTTTGGGTAGGTTCCTAAACTCCCCAAGCTTCAGCATCCACATCTGAAAAATAGAGTATACTTAGCAAATTGGATGAGATGATGTGAAAAATGGAGTTAGTTCATGCATTTGCTTAATCAACCAAATACTTTTGAATTCATACTAAGTGCCAGGCATAGAGTGTTGAATAAGACAGAGGACACTGCACTCAAGAAATATAAGTCTACTAGCTAGGGCAGGTGTCAGTTAATTAATTACAGTTGTGTTCAGTTCCCTTACCAAGGGAAAGAGCAGAATATCCTGAGAGGACCTGGATTGGGTTCGAAGGGGGCACGGTGTTCGTCACGTAAGCACTTCAATACTAGCAACCTATTGTCATCATCGCTTGTTGGCTGGGGAAGACAGGGATGATTCCAGAACCCAGATTGCCCAGTTTCAGTGGCAGGGCTGTTCCCCATCTACTCACTGGCTTGGGACTCTGAACATGGCCTGGGCAGGTGGGGTGGGGAGTGATTCTTACCTTTGGCAGCTGTTAACTGTTGATATTTCTTTACACAGAGGCCCCCCCAGTGCCCTTCCTGCATGCCCAGCGGTACGTGAGTGGCTATGGGCTGCAGAAGGGGGAGCTGAGCACACTGCTGTACAACACCCACCCATACCGGGCCTTCCCGGTGCTGCTGCTGGACACCGTACCCTGGTATCTGCGGCTGTATGTGCACACCCTCACCATCACCTCCNN
pathogenic
314,009
Variant chromosome 20, position 45420577, gene PIGT (phosphatidylinositol glycan anchor biosynthesis class T): benign or pathogenic? Disease(s)?
pathogenic; ['Inborn_genetic_diseases', 'Multiple_congenital_anomalies-hypotonia-seizures_syndrome_3', 'PIGT-related_disorder']
AGGGGAGGTAAGCACTGGAGCCGGATCATGAAGGTAGGCAGAAAGAAGTTAGCAAAGGCTTGCAAGGAAGGAAGAATCACCTGAGCAGAGACCCATGGGGATGCAGAGATGTCCAGAGGAGAGTGAGGAAGAAGGGGCTGAGTAGGATGAGACCCAGCAAGTGGGCTGGCTGGGGGCAGCAATGTTCCAGCTCCATCAACTGGCCCGTCTAATAGTTAAGAATACAGCCTCCTCCTATCATAGGTTTAGCAGCCAGCTGTGGACTTTGAAAGAGGGAGCAGAGGTAGCCCCAGGACAGTGAGTGGATTTGTGTCTCTATCCAGTGTGGATAAATCTTGGAAGGAGCTCAGTAATGTCCTCTCAGGGATCTTCTGCGCCTCTCTCAACTTCATCGACTCCACCAACACAGTCACTCCCACTGCCTCCTTCAAACCCCTGGGTCTGGCCAATGGTGAGATAACCCCTACAGCCCTTTCCTTCTTCCTCTTACCTCCTGCCCAAACCTTTGCCTCCTTTTCCCTCAGTTTCCTGCTTCCTCAGCCTGGGCTAGATCCTAAGTCCCCTGTGTGTGCAGGCCCCCAATACTGTGCCATCTCTGCATGCCTTTTCCCAAGGAGAGAAGGGAGTCCTACTCCCAGTTGGGACTGTCCAGACTGTGGTGCTAGAGGTGGTGTGGGGAGCAGGAGGGTCATTCCCATCTCTGGAATGTGGATCCCGAGGGGTCAGAGCCCAAGGCCCACCCCAGACAGACCTCTGTCTCCCTCAGACACTGACCACTACTTTCTGCGCTATGCTGTGCTGCCGCGGGAGGTGGTCTGCACCGAAAACCTCACCCCCTGGAAGAAGCTCTTGCCCTGTAGTTCCAAGGTGAGGCCGCAGAGCCTGGCAGCCGGGGGCGGGGGGTGTATAGAGAACCTGCGCCCCATGCCAAGTGCTCCATACAGGGCTTCTCTTATCTCTTTCCATCTCCTCCAGGCAGGCCTCTCTGTGCTGCTGAAGGCAGATCGCTTGTTCCACACCAGCTACCACTCCCAGGCAGTGCATATCCGCCCTGTTTGCAGAGTAAGTCATGGGGAGTAGAGGAAGCTGCCATCCAGGGGCTCAGAGAAGGTACATGTAAAGCATGTGGTCAGTGTCTGGCTCAGGCTGAGTGAGTACTGAGTGGTAGATGTGATGACGGTTATTCAGGGCATTGGCCAAGCACCAAGAAAACAGTGGTTGCCTAGCAAGCACTGAATAAATATTTGTCATGGAAAATAGTGGTTCAGAACAATAGCTATGCGGGTGCAATTGCTAGCTCAGTCACTTGCCAGCTGGCGTAACCTTGGGTGAATCATTTCATTCCCCTGAGCTTGGTTTCCCACCCTGCCACATGACATTGATAGTAGAATCCACTCCTAGGGTTGTTGTGATAGTTTATCAAACTGATGCACATACAGCTGTCAGCACGGGGTCTGGCACGAGGTCAAGTGCTCAGGAGTGGGTGGTAGCAAATCGATGGATGTGAAGATACATAGATGAGGGATTGAGTCTGAGTAGGAGTCTTTTTGGGGGCTGTGTGGTGAGAGTGATACCCCCTCACTGCTGCCATCTGGCCCTTGTGATAGAATGCACGCTGTACTAGCATCTCCTGGGAGCTGAGGCAGACCCTGTCAGTTGTATTTGATGCCTTCATCACGGGGCAGGGAAAGAAAGGTAAGTTACCTTGGCAACTCATCTGTACCCACCCATGCCAGCCCTGCCTTATCTATGTGGACTAGGCCTAGGCCTGGCCCCTGCTCAGCCCTGCGCTCTGTTTCTCAGACTGGTCCCTCTTCCGGATGTTCTCCCGAACCCTCACGGAGCCCTGCCCCCTGGCTTCAGAGAGCCGAGTCTATGTGGACATCACCACCTACAACCAGGTAACAAGGTCTCCAGCCACACACACAAACACACCGCTGGTCCCCAGGACCAGCCTACCCTCTCTGCTTGCTTCTTAGCCCTGCCTTTGTGTCCCCAGGACAACGAGACATTAGAGGTGCACCCACCCCCGACCACTACATATCAGGACGTCATCCTAGGCACTCGGAAGACCTATGCCATCTATGACTTGCTTGACACCGCCATGATCAACAACTCTCGAAACCTCAACATCCAGCTCAAGTGGAAGAGACCCCCAGAGAATGGTGAGTGGGTGGTTGGTTGGACTGCTGGGTTGCAACGGCTACAGAGAAAAGACTCACAATCCCACGTCTTTGCCGTTAGATGATTGGGTTGTATTTAGACCAGATTTCCAGAGTCATATGCTGCTGACTGTAGCTATTCCAAGCTCTACGATTTTGGGTAGGTTCCTAAACTCCCCAAGCTTCAGCATCCACATCTGAAAAATAGAGTATACTTAGCAAATTGGATGAGATGATGTGAAAAATGGAGTTAGTTCATGCATTTGCTTAATCAACCAAATACTTTTGAATTCATACTAAGTGCCAGGCATAGAGTGTTGAATAAGACAGAGGACACTGCACTCAAGAAATATAAGTCTACTAGCTAGGGCAGGTGTCAGTTAATTAATTACAGTTGTGTTCAGTTCCCTTACCAAGGGAAAGAGCAGAATATCCTGAGAGGACCTGGATTGGGTTCGAAGGGGGCACGGTGTTCGTCACGTAAGCACTTCAATACTAGCAACCTATTGTCATCATCGCTTGTTGGCTGGGGAAGACAGGGATGATTCCAGAACCCAGATTGCCCAGTTTCAGTGGCAGGGCTGTTCCCCATCTACTCACTGGCTTGGGACTCTGAACATGGCCTGGGCAGGTGGGGTGGGGAGTGATTCTTACCTTTGGCAGCTGTTAACTGTTGATATTTCTTTACACAGAGGCCCCCCCAGTGCCCTTCCTGCATGCCCAGCGGTACGTGAGTGGCTATGGGCTGCAGAAGGGGGAGCTGAGCACACTGCTGTACAACACCCACCCATACCGGGCCTTCCCGGTGCTGCTGCTGGACACCGTACCCTGGTATCTGCGGCTGTATGTGCACACCCTCACCATCACCTCCAAGGGCAAGGAGAACAAACCAAGTGAGGACCTGAGTCCTGAACCAGGCCCCCAGCCCGCCCTCTCATGTCCTCTCCAGGTCCCCCAAACTCTCATTTCCCAGGGTAGTTCCTGAAGTACCTCTGAAAAGCTACACAGGCATAAAGAGTAAGGAATAGTTTCTCAAAACTGGAACGGGAGCCTCACTGTGCCAGGTTCAGAAGTAATTTATAAAACAGCAATAATTAAAACACATAATACTGGTGATTCTTAATAGGACTGTACAAGGACAGTAGCTTCCTTTTTCACTTACTTTTGCCTCCTTTCTGGAGCATTGGGTTTTGTGATGATTCATAGACTCTTTAAGGTAGGGAAAGGGTTTGGCAACGTTAGGCTTTTGAAGCTAGGAAGATAGCAGAGCTGGAGTAGATGGTGTTTTGCTTCCTTGGGAGGGGTAAAGAGGTACAGTTAATTAAATTTTTTTATTTCTATTTTTATTAAAATTTATTTTTATTTTCTATTATTTTTCTAAGGAGAAGATAATATTAGTGCTTCCTATTAGGTGCCAGGCATAGCACTAAAGCACTTGCCTTTCTTTGGTGTAGGGGGAGACTAGTAGTAAAGTAAAAGACCTCTGAGGAAGAGGTTGTACCATATCCCAAACGGCCAAACTTAAAAACCTTTCAGTACTTTAGTTGATTCCTATATTTTCAAACATACGGTGAATAGTTTCACTTATTTTCAGCACCATTATTTGTACCACCTTCAAAATCTCTATTTCAGACATCCTAACTGCATATTCTATAGGTTTTTCTGTTATTATTCTTTTAAATCTTCTCCTTTGGAAAATTTCAAACCCAAACCCAAACAGAATAGTGTAATAATCCCCTGTACACACCCTGCAGCCTTTTTTTTTTTTTTTTAAGAGACAGACTGTTGCTCTGTCAGCTATGCCGGAGTGCAGTGGCATGATCATGGCTCATTGCAGTCTCAGACTGCTCGGCTCAAGCAATCCTCCTACCTCCGCTTCCCTAGGACTACAGGCATGAACCGCCATGCCTTTAATTTTTTCACAGAGGCAGGGT
AGGGGAGGTAAGCACTGGAGCCGGATCATGAAGGTAGGCAGAAAGAAGTTAGCAAAGGCTTGCAAGGAAGGAAGAATCACCTGAGCAGAGACCCATGGGGATGCAGAGATGTCCAGAGGAGAGTGAGGAAGAAGGGGCTGAGTAGGATGAGACCCAGCAAGTGGGCTGGCTGGGGGCAGCAATGTTCCAGCTCCATCAACTGGCCCGTCTAATAGTTAAGAATACAGCCTCCTCCTATCATAGGTTTAGCAGCCAGCTGTGGACTTTGAAAGAGGGAGCAGAGGTAGCCCCAGGACAGTGAGTGGATTTGTGTCTCTATCCAGTGTGGATAAATCTTGGAAGGAGCTCAGTAATGTCCTCTCAGGGATCTTCTGCGCCTCTCTCAACTTCATCGACTCCACCAACACAGTCACTCCCACTGCCTCCTTCAAACCCCTGGGTCTGGCCAATGGTGAGATAACCCCTACAGCCCTTTCCTTCTTCCTCTTACCTCCTGCCCAAACCTTTGCCTCCTTTTCCCTCAGTTTCCTGCTTCCTCAGCCTGGGCTAGATCCTAAGTCCCCTGTGTGTGCAGGCCCCCAATACTGTGCCATCTCTGCATGCCTTTTCCCAAGGAGAGAAGGGAGTCCTACTCCCAGTTGGGACTGTCCAGACTGTGGTGCTAGAGGTGGTGTGGGGAGCAGGAGGGTCATTCCCATCTCTGGAATGTGGATCCCGAGGGGTCAGAGCCCAAGGCCCACCCCAGACAGACCTCTGTCTCCCTCAGACACTGACCACTACTTTCTGCGCTATGCTGTGCTGCCGCGGGAGGTGGTCTGCACCGAAAACCTCACCCCCTGGAAGAAGCTCTTGCCCTGTAGTTCCAAGGTGAGGCCGCAGAGCCTGGCAGCCGGGGGCGGGGGGTGTATAGAGAACCTGCGCCCCATGCCAAGTGCTCCATACAGGGCTTCTCTTATCTCTTTCCATCTCCTCCAGGCAGGCCTCTCTGTGCTGCTGAAGGCAGATCGCTTGTTCCACACCAGCTACCACTCCCAGGCAGTGCATATCCGCCCTGTTTGCAGAGTAAGTCATGGGGAGTAGAGGAAGCTGCCATCCAGGGGCTCAGAGAAGGTACATGTAAAGCATGTGGTCAGTGTCTGGCTCAGGCTGAGTGAGTACTGAGTGGTAGATGTGATGACGGTTATTCAGGGCATTGGCCAAGCACCAAGAAAACAGTGGTTGCCTAGCAAGCACTGAATAAATATTTGTCATGGAAAATAGTGGTTCAGAACAATAGCTATGCGGGTGCAATTGCTAGCTCAGTCACTTGCCAGCTGGCGTAACCTTGGGTGAATCATTTCATTCCCCTGAGCTTGGTTTCCCACCCTGCCACATGACATTGATAGTAGAATCCACTCCTAGGGTTGTTGTGATAGTTTATCAAACTGATGCACATACAGCTGTCAGCACGGGGTCTGGCACGAGGTCAAGTGCTCAGGAGTGGGTGGTAGCAAATCGATGGATGTGAAGATACATAGATGAGGGATTGAGTCTGAGTAGGAGTCTTTTTGGGGGCTGTGTGGTGAGAGTGATACCCCCTCACTGCTGCCATCTGGCCCTTGTGATAGAATGCACGCTGTACTAGCATCTCCTGGGAGCTGAGGCAGACCCTGTCAGTTGTATTTGATGCCTTCATCACGGGGCAGGGAAAGAAAGGTAAGTTACCTTGGCAACTCATCTGTACCCACCCATGCCAGCCCTGCCTTATCTATGTGGACTAGGCCTAGGCCTGGCCCCTGCTCAGCCCTGCGCTCTGTTTCTCAGACTGGTCCCTCTTCCGGATGTTCTCCCGAACCCTCACGGAGCCCTGCCCCCTGGCTTCAGAGAGCCGAGTCTATGTGGACATCACCACCTACAACCAGGTAACAAGGTCTCCAGCCACACACACAAACACACCGCTGGTCCCCAGGACCAGCCTACCCTCTCTGCTTGCTTCTTAGCCCTGCCTTTGTGTCCCCAGGACAACGAGACATTAGAGGTGCACCCACCCCCGACCACTACATATCAGGACCGTCATCCTAGGCACTCGGAAGACCTATGCCATCTATGACTTGCTTGACACCGCCATGATCAACAACTCTCGAAACCTCAACATCCAGCTCAAGTGGAAGAGACCCCCAGAGAATGGTGAGTGGGTGGTTGGTTGGACTGCTGGGTTGCAACGGCTACAGAGAAAAGACTCACAATCCCACGTCTTTGCCGTTAGATGATTGGGTTGTATTTAGACCAGATTTCCAGAGTCATATGCTGCTGACTGTAGCTATTCCAAGCTCTACGATTTTGGGTAGGTTCCTAAACTCCCCAAGCTTCAGCATCCACATCTGAAAAATAGAGTATACTTAGCAAATTGGATGAGATGATGTGAAAAATGGAGTTAGTTCATGCATTTGCTTAATCAACCAAATACTTTTGAATTCATACTAAGTGCCAGGCATAGAGTGTTGAATAAGACAGAGGACACTGCACTCAAGAAATATAAGTCTACTAGCTAGGGCAGGTGTCAGTTAATTAATTACAGTTGTGTTCAGTTCCCTTACCAAGGGAAAGAGCAGAATATCCTGAGAGGACCTGGATTGGGTTCGAAGGGGGCACGGTGTTCGTCACGTAAGCACTTCAATACTAGCAACCTATTGTCATCATCGCTTGTTGGCTGGGGAAGACAGGGATGATTCCAGAACCCAGATTGCCCAGTTTCAGTGGCAGGGCTGTTCCCCATCTACTCACTGGCTTGGGACTCTGAACATGGCCTGGGCAGGTGGGGTGGGGAGTGATTCTTACCTTTGGCAGCTGTTAACTGTTGATATTTCTTTACACAGAGGCCCCCCCAGTGCCCTTCCTGCATGCCCAGCGGTACGTGAGTGGCTATGGGCTGCAGAAGGGGGAGCTGAGCACACTGCTGTACAACACCCACCCATACCGGGCCTTCCCGGTGCTGCTGCTGGACACCGTACCCTGGTATCTGCGGCTGTATGTGCACACCCTCACCATCACCTCCAAGGGCAAGGAGAACAAACCAAGTGAGGACCTGAGTCCTGAACCAGGCCCCCAGCCCGCCCTCTCATGTCCTCTCCAGGTCCCCCAAACTCTCATTTCCCAGGGTAGTTCCTGAAGTACCTCTGAAAAGCTACACAGGCATAAAGAGTAAGGAATAGTTTCTCAAAACTGGAACGGGAGCCTCACTGTGCCAGGTTCAGAAGTAATTTATAAAACAGCAATAATTAAAACACATAATACTGGTGATTCTTAATAGGACTGTACAAGGACAGTAGCTTCCTTTTTCACTTACTTTTGCCTCCTTTCTGGAGCATTGGGTTTTGTGATGATTCATAGACTCTTTAAGGTAGGGAAAGGGTTTGGCAACGTTAGGCTTTTGAAGCTAGGAAGATAGCAGAGCTGGAGTAGATGGTGTTTTGCTTCCTTGGGAGGGGTAAAGAGGTACAGTTAATTAAATTTTTTTATTTCTATTTTTATTAAAATTTATTTTTATTTTCTATTATTTTTCTAAGGAGAAGATAATATTAGTGCTTCCTATTAGGTGCCAGGCATAGCACTAAAGCACTTGCCTTTCTTTGGTGTAGGGGGAGACTAGTAGTAAAGTAAAAGACCTCTGAGGAAGAGGTTGTACCATATCCCAAACGGCCAAACTTAAAAACCTTTCAGTACTTTAGTTGATTCCTATATTTTCAAACATACGGTGAATAGTTTCACTTATTTTCAGCACCATTATTTGTACCACCTTCAAAATCTCTATTTCAGACATCCTAACTGCATATTCTATAGGTTTTTCTGTTATTATTCTTTTAAATCTTCTCCTTTGGAAAATTTCAAACCCAAACCCAAACAGAATAGTGTAATAATCCCCTGTACACACCCTGCAGCCTTTTTTTTTTTTTTTTAAGAGACAGACTGTTGCTCTGTCAGCTATGCCGGAGTGCAGTGGCATGATCATGGCTCATTGCAGTCTCAGACTGCTCGGCTCAAGCAATCCTCCTACCTCCGCTTCCCTAGGACTACAGGCATGAACCGCCATGCCTTTAATTTTTTCACAGAGGCAGGG
pathogenic
314,014
Benign or pathogenic: chromosome 20, position 45421385, gene PIGT (phosphatidylinositol glycan anchor biosynthesis class T) variant? Disease(s) if pathogenic?
pathogenic; ['Multiple_congenital_anomalies-hypotonia-seizures_syndrome_3']
AGGTGGTCTGCACCGAAAACCTCACCCCCTGGAAGAAGCTCTTGCCCTGTAGTTCCAAGGTGAGGCCGCAGAGCCTGGCAGCCGGGGGCGGGGGGTGTATAGAGAACCTGCGCCCCATGCCAAGTGCTCCATACAGGGCTTCTCTTATCTCTTTCCATCTCCTCCAGGCAGGCCTCTCTGTGCTGCTGAAGGCAGATCGCTTGTTCCACACCAGCTACCACTCCCAGGCAGTGCATATCCGCCCTGTTTGCAGAGTAAGTCATGGGGAGTAGAGGAAGCTGCCATCCAGGGGCTCAGAGAAGGTACATGTAAAGCATGTGGTCAGTGTCTGGCTCAGGCTGAGTGAGTACTGAGTGGTAGATGTGATGACGGTTATTCAGGGCATTGGCCAAGCACCAAGAAAACAGTGGTTGCCTAGCAAGCACTGAATAAATATTTGTCATGGAAAATAGTGGTTCAGAACAATAGCTATGCGGGTGCAATTGCTAGCTCAGTCACTTGCCAGCTGGCGTAACCTTGGGTGAATCATTTCATTCCCCTGAGCTTGGTTTCCCACCCTGCCACATGACATTGATAGTAGAATCCACTCCTAGGGTTGTTGTGATAGTTTATCAAACTGATGCACATACAGCTGTCAGCACGGGGTCTGGCACGAGGTCAAGTGCTCAGGAGTGGGTGGTAGCAAATCGATGGATGTGAAGATACATAGATGAGGGATTGAGTCTGAGTAGGAGTCTTTTTGGGGGCTGTGTGGTGAGAGTGATACCCCCTCACTGCTGCCATCTGGCCCTTGTGATAGAATGCACGCTGTACTAGCATCTCCTGGGAGCTGAGGCAGACCCTGTCAGTTGTATTTGATGCCTTCATCACGGGGCAGGGAAAGAAAGGTAAGTTACCTTGGCAACTCATCTGTACCCACCCATGCCAGCCCTGCCTTATCTATGTGGACTAGGCCTAGGCCTGGCCCCTGCTCAGCCCTGCGCTCTGTTTCTCAGACTGGTCCCTCTTCCGGATGTTCTCCCGAACCCTCACGGAGCCCTGCCCCCTGGCTTCAGAGAGCCGAGTCTATGTGGACATCACCACCTACAACCAGGTAACAAGGTCTCCAGCCACACACACAAACACACCGCTGGTCCCCAGGACCAGCCTACCCTCTCTGCTTGCTTCTTAGCCCTGCCTTTGTGTCCCCAGGACAACGAGACATTAGAGGTGCACCCACCCCCGACCACTACATATCAGGACGTCATCCTAGGCACTCGGAAGACCTATGCCATCTATGACTTGCTTGACACCGCCATGATCAACAACTCTCGAAACCTCAACATCCAGCTCAAGTGGAAGAGACCCCCAGAGAATGGTGAGTGGGTGGTTGGTTGGACTGCTGGGTTGCAACGGCTACAGAGAAAAGACTCACAATCCCACGTCTTTGCCGTTAGATGATTGGGTTGTATTTAGACCAGATTTCCAGAGTCATATGCTGCTGACTGTAGCTATTCCAAGCTCTACGATTTTGGGTAGGTTCCTAAACTCCCCAAGCTTCAGCATCCACATCTGAAAAATAGAGTATACTTAGCAAATTGGATGAGATGATGTGAAAAATGGAGTTAGTTCATGCATTTGCTTAATCAACCAAATACTTTTGAATTCATACTAAGTGCCAGGCATAGAGTGTTGAATAAGACAGAGGACACTGCACTCAAGAAATATAAGTCTACTAGCTAGGGCAGGTGTCAGTTAATTAATTACAGTTGTGTTCAGTTCCCTTACCAAGGGAAAGAGCAGAATATCCTGAGAGGACCTGGATTGGGTTCGAAGGGGGCACGGTGTTCGTCACGTAAGCACTTCAATACTAGCAACCTATTGTCATCATCGCTTGTTGGCTGGGGAAGACAGGGATGATTCCAGAACCCAGATTGCCCAGTTTCAGTGGCAGGGCTGTTCCCCATCTACTCACTGGCTTGGGACTCTGAACATGGCCTGGGCAGGTGGGGTGGGGAGTGATTCTTACCTTTGGCAGCTGTTAACTGTTGATATTTCTTTACACAGAGGCCCCCCCAGTGCCCTTCCTGCATGCCCAGCGGTACGTGAGTGGCTATGGGCTGCAGAAGGGGGAGCTGAGCACACTGCTGTACAACACCCACCCATACCGGGCCTTCCCGGTGCTGCTGCTGGACACCGTACCCTGGTATCTGCGGCTGTATGTGCACACCCTCACCATCACCTCCAAGGGCAAGGAGAACAAACCAAGTGAGGACCTGAGTCCTGAACCAGGCCCCCAGCCCGCCCTCTCATGTCCTCTCCAGGTCCCCCAAACTCTCATTTCCCAGGGTAGTTCCTGAAGTACCTCTGAAAAGCTACACAGGCATAAAGAGTAAGGAATAGTTTCTCAAAACTGGAACGGGAGCCTCACTGTGCCAGGTTCAGAAGTAATTTATAAAACAGCAATAATTAAAACACATAATACTGGTGATTCTTAATAGGACTGTACAAGGACAGTAGCTTCCTTTTTCACTTACTTTTGCCTCCTTTCTGGAGCATTGGGTTTTGTGATGATTCATAGACTCTTTAAGGTAGGGAAAGGGTTTGGCAACGTTAGGCTTTTGAAGCTAGGAAGATAGCAGAGCTGGAGTAGATGGTGTTTTGCTTCCTTGGGAGGGGTAAAGAGGTACAGTTAATTAAATTTTTTTATTTCTATTTTTATTAAAATTTATTTTTATTTTCTATTATTTTTCTAAGGAGAAGATAATATTAGTGCTTCCTATTAGGTGCCAGGCATAGCACTAAAGCACTTGCCTTTCTTTGGTGTAGGGGGAGACTAGTAGTAAAGTAAAAGACCTCTGAGGAAGAGGTTGTACCATATCCCAAACGGCCAAACTTAAAAACCTTTCAGTACTTTAGTTGATTCCTATATTTTCAAACATACGGTGAATAGTTTCACTTATTTTCAGCACCATTATTTGTACCACCTTCAAAATCTCTATTTCAGACATCCTAACTGCATATTCTATAGGTTTTTCTGTTATTATTCTTTTAAATCTTCTCCTTTGGAAAATTTCAAACCCAAACCCAAACAGAATAGTGTAATAATCCCCTGTACACACCCTGCAGCCTTTTTTTTTTTTTTTTAAGAGACAGACTGTTGCTCTGTCAGCTATGCCGGAGTGCAGTGGCATGATCATGGCTCATTGCAGTCTCAGACTGCTCGGCTCAAGCAATCCTCCTACCTCCGCTTCCCTAGGACTACAGGCATGAACCGCCATGCCTTTAATTTTTTCACAGAGGCAGGGTCTTGTTATGTTGCACAGGCTGGTCTCAAACTCCTGGCCTCAAGCGATTCTCCTGCCTCAGTCTCCTAAAGTGCTGGGATTATAGGTGTAAGCCGCTGCCTGCTGGCATATCTTAAAGCAAATCTTAGACATTGCATCAATTAACCTTTAAATACTTTAAGGATTTTTAAAAATGTAACCGTATCATTACCACTTCTGTTTTCCCCTGTGGTCTTAAAAATGTCTTTTTATAATTGGTTTGTTTAAATTGGGATAAACAAGGTTCTCACATTGCATTTGCTTTATACTAAGTTCCTCTCTTGGGTGGGCACAGTGGTGCACACCTGTAATCTCAGCACTTTGGGAGGCCAACACAGAAGGACCACTTGAGTCCAGGAGTTCGAAACCAGCCTGGACAACATTGTGAGGCTCCCCCTACCTATACAAAAAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGATCCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCCACCTCCCGAGTAGCTGGGACTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTCTGTTTTTAGTAGAGATGCGGTTTCACTGTGTTAGCCAGGGTGGTCTCGATCTTCTGACCTTGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTAAAATAAATTGTTTTTAATTAGCTGGGGGTGGTGTTGCACGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATCACTTGAACCCAGG
AGGTGGTCTGCACCGAAAACCTCACCCCCTGGAAGAAGCTCTTGCCCTGTAGTTCCAAGGTGAGGCCGCAGAGCCTGGCAGCCGGGGGCGGGGGGTGTATAGAGAACCTGCGCCCCATGCCAAGTGCTCCATACAGGGCTTCTCTTATCTCTTTCCATCTCCTCCAGGCAGGCCTCTCTGTGCTGCTGAAGGCAGATCGCTTGTTCCACACCAGCTACCACTCCCAGGCAGTGCATATCCGCCCTGTTTGCAGAGTAAGTCATGGGGAGTAGAGGAAGCTGCCATCCAGGGGCTCAGAGAAGGTACATGTAAAGCATGTGGTCAGTGTCTGGCTCAGGCTGAGTGAGTACTGAGTGGTAGATGTGATGACGGTTATTCAGGGCATTGGCCAAGCACCAAGAAAACAGTGGTTGCCTAGCAAGCACTGAATAAATATTTGTCATGGAAAATAGTGGTTCAGAACAATAGCTATGCGGGTGCAATTGCTAGCTCAGTCACTTGCCAGCTGGCGTAACCTTGGGTGAATCATTTCATTCCCCTGAGCTTGGTTTCCCACCCTGCCACATGACATTGATAGTAGAATCCACTCCTAGGGTTGTTGTGATAGTTTATCAAACTGATGCACATACAGCTGTCAGCACGGGGTCTGGCACGAGGTCAAGTGCTCAGGAGTGGGTGGTAGCAAATCGATGGATGTGAAGATACATAGATGAGGGATTGAGTCTGAGTAGGAGTCTTTTTGGGGGCTGTGTGGTGAGAGTGATACCCCCTCACTGCTGCCATCTGGCCCTTGTGATAGAATGCACGCTGTACTAGCATCTCCTGGGAGCTGAGGCAGACCCTGTCAGTTGTATTTGATGCCTTCATCACGGGGCAGGGAAAGAAAGGTAAGTTACCTTGGCAACTCATCTGTACCCACCCATGCCAGCCCTGCCTTATCTATGTGGACTAGGCCTAGGCCTGGCCCCTGCTCAGCCCTGCGCTCTGTTTCTCAGACTGGTCCCTCTTCCGGATGTTCTCCCGAACCCTCACGGAGCCCTGCCCCCTGGCTTCAGAGAGCCGAGTCTATGTGGACATCACCACCTACAACCAGGTAACAAGGTCTCCAGCCACACACACAAACACACCGCTGGTCCCCAGGACCAGCCTACCCTCTCTGCTTGCTTCTTAGCCCTGCCTTTGTGTCCCCAGGACAACGAGACATTAGAGGTGCACCCACCCCCGACCACTACATATCAGGACGTCATCCTAGGCACTCGGAAGACCTATGCCATCTATGACTTGCTTGACACCGCCATGATCAACAACTCTCGAAACCTCAACATCCAGCTCAAGTGGAAGAGACCCCCAGAGAATGGTGAGTGGGTGGTTGGTTGGACTGCTGGGTTGCAACGGCTACAGAGAAAAGACTCACAATCCCACGTCTTTGCCGTTAGATGATTGGGTTGTATTTAGACCAGATTTCCAGAGTCATATGCTGCTGACTGTAGCTATTCCAAGCTCTACGATTTTGGGTAGGTTCCTAAACTCCCCAAGCTTCAGCATCCACATCTGAAAAATAGAGTATACTTAGCAAATTGGATGAGATGATGTGAAAAATGGAGTTAGTTCATGCATTTGCTTAATCAACCAAATACTTTTGAATTCATACTAAGTGCCAGGCATAGAGTGTTGAATAAGACAGAGGACACTGCACTCAAGAAATATAAGTCTACTAGCTAGGGCAGGTGTCAGTTAATTAATTACAGTTGTGTTCAGTTCCCTTACCAAGGGAAAGAGCAGAATATCCTGAGAGGACCTGGATTGGGTTCGAAGGGGGCACGGTGTTCGTCACGTAAGCACTTCAATACTAGCAACCTATTGTCATCATCGCTTGTTGGCTGGGGAAGACAGGGATGATTCCAGAACCCAGATTGCCCAGTTTCAGTGGCAGGGCTGTTCCCCATCTACTCACTGGCTTGGGACTCTGAACATGGCCTGGGCAGGTGGGGTGGGGAGTGATTCTTACCTTTGGCAGCTGTTAACTGTTGATATTTCTTTACACAGAGGCCCCCCCCAGTGCCCTTCCTGCATGCCCAGCGGTACGTGAGTGGCTATGGGCTGCAGAAGGGGGAGCTGAGCACACTGCTGTACAACACCCACCCATACCGGGCCTTCCCGGTGCTGCTGCTGGACACCGTACCCTGGTATCTGCGGCTGTATGTGCACACCCTCACCATCACCTCCAAGGGCAAGGAGAACAAACCAAGTGAGGACCTGAGTCCTGAACCAGGCCCCCAGCCCGCCCTCTCATGTCCTCTCCAGGTCCCCCAAACTCTCATTTCCCAGGGTAGTTCCTGAAGTACCTCTGAAAAGCTACACAGGCATAAAGAGTAAGGAATAGTTTCTCAAAACTGGAACGGGAGCCTCACTGTGCCAGGTTCAGAAGTAATTTATAAAACAGCAATAATTAAAACACATAATACTGGTGATTCTTAATAGGACTGTACAAGGACAGTAGCTTCCTTTTTCACTTACTTTTGCCTCCTTTCTGGAGCATTGGGTTTTGTGATGATTCATAGACTCTTTAAGGTAGGGAAAGGGTTTGGCAACGTTAGGCTTTTGAAGCTAGGAAGATAGCAGAGCTGGAGTAGATGGTGTTTTGCTTCCTTGGGAGGGGTAAAGAGGTACAGTTAATTAAATTTTTTTATTTCTATTTTTATTAAAATTTATTTTTATTTTCTATTATTTTTCTAAGGAGAAGATAATATTAGTGCTTCCTATTAGGTGCCAGGCATAGCACTAAAGCACTTGCCTTTCTTTGGTGTAGGGGGAGACTAGTAGTAAAGTAAAAGACCTCTGAGGAAGAGGTTGTACCATATCCCAAACGGCCAAACTTAAAAACCTTTCAGTACTTTAGTTGATTCCTATATTTTCAAACATACGGTGAATAGTTTCACTTATTTTCAGCACCATTATTTGTACCACCTTCAAAATCTCTATTTCAGACATCCTAACTGCATATTCTATAGGTTTTTCTGTTATTATTCTTTTAAATCTTCTCCTTTGGAAAATTTCAAACCCAAACCCAAACAGAATAGTGTAATAATCCCCTGTACACACCCTGCAGCCTTTTTTTTTTTTTTTTAAGAGACAGACTGTTGCTCTGTCAGCTATGCCGGAGTGCAGTGGCATGATCATGGCTCATTGCAGTCTCAGACTGCTCGGCTCAAGCAATCCTCCTACCTCCGCTTCCCTAGGACTACAGGCATGAACCGCCATGCCTTTAATTTTTTCACAGAGGCAGGGTCTTGTTATGTTGCACAGGCTGGTCTCAAACTCCTGGCCTCAAGCGATTCTCCTGCCTCAGTCTCCTAAAGTGCTGGGATTATAGGTGTAAGCCGCTGCCTGCTGGCATATCTTAAAGCAAATCTTAGACATTGCATCAATTAACCTTTAAATACTTTAAGGATTTTTAAAAATGTAACCGTATCATTACCACTTCTGTTTTCCCCTGTGGTCTTAAAAATGTCTTTTTATAATTGGTTTGTTTAAATTGGGATAAACAAGGTTCTCACATTGCATTTGCTTTATACTAAGTTCCTCTCTTGGGTGGGCACAGTGGTGCACACCTGTAATCTCAGCACTTTGGGAGGCCAACACAGAAGGACCACTTGAGTCCAGGAGTTCGAAACCAGCCTGGACAACATTGTGAGGCTCCCCCTACCTATACAAAAAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGATCCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCCACCTCCCGAGTAGCTGGGACTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTCTGTTTTTAGTAGAGATGCGGTTTCACTGTGTTAGCCAGGGTGGTCTCGATCTTCTGACCTTGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTAAAATAAATTGTTTTTAATTAGCTGGGGGTGGTGTTGCACGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATCACTTGAACCCAG
pathogenic
314,019
The chromosome 20, position 45891598 genetic variant in gene CTSA (cathepsin A): benign or pathogenic? If pathogenic, indicate disease(s).
benign
ACTTTGTTGCCCAGGCTTGAGCTAGCTAGCTTGCTTGCTTGCTTGCTTTCTCTCTCTTCCTCTCTCTCTCTCTTTCTTTTTTTTTTCAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGCATGTTTCTAAGAAAAGGGCAAACAATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCCTGCCCTAGGTGAATACAGGAAACACTATCAAAACTAAAAGGGAACTTGTAGGGCATCTTAATCAATCAACCAAGATAGGTACCAAGGCCCAAAACCATGTAGAGGCTTGTGCAAGATCACAAGCAGAGGTGCAATTTGAAGCTAGATTCTCCCACTCTTAAACTAGTGCCGGACAGACGAAGGCCTAGCACATGGGCTACGGAGCCCTAGTAGATTCCAGTCCCCACACTGAGCCAGGAGGGGTCGCTGCCCAGGGATACCTACAGCCATACTCGAGCTGGACAAGGCGCACGCTCTTTGTGGAAGCAAACACGTCCACCACCGCGTAGAGGGGCTGCGCAGCTGGCAGTCCCCGGGCGCTCGGGCCCATGTCCTCGCCGTTGATGATGATGTGCATGTCGGCCGTGCCATCGGGGCGCGGGCAAAAGAGGACACCCAGGCGGCTACGGCGCGCGGTCGGAGGCAGCACGTTCAGCTCATAGAGCTGGTCCAAGAGATGGCTGTAGAGCCCTGGCCGGCTGCGGCCCACCAGGCGGTCCCGGGGAATGCGAAACTGCTCAATGCGCAGATATGGTTCCACGAGGAGGGTTGGAGGTCGGCTGGGGGCCGCTGCCTCCGCCTCCGGGCGGCCCTCCCGGGGCACGCGGTTGTGGTGGCGCGTGATGGCGAAGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGC
ACTTTGTTGCCCAGGCTTGAGCTAGCTAGCTTGCTTGCTTGCTTGCTTTCTCTCTCTTCCTCTCTCTCTCTCTTTCTTTTTTTTTTCAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGCATGTTTCTAAGAAAAGGGCAAACAATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCCTGCCCTAGGTGAATACAGGAAACACTATCAAAACTAAAAGGGAACTTGTAGGGCATCTTAATCAATCAACCAAGATAGGTACCAAGGCCCAAAACCATGTAGAGGCTTGTGCAAGATCACAAGCAGAGGTGCAATTTGAAGCTAGATTCTCCCACTCTTAAACTAGTGCCGGACAGACGAAGGCCTAGCACATGGGCTACGGAGCCCTAGTAGATTCCAGTCCCCACACTGAGCCAGGAGGGGTCGCTGCCCAGGGATACCTACAGCCATACTCGAGCTGGACAAGGCGCACGCTCTTTGTGGAAGCAAACACGTCCACCACCGCGTAGAGGGGCTGCGCAGCTGGCAGTCCCCGGGCGCTCGGGCCCATGTCCTCGCCGTTGATGATGATGTGCATGTCGGCCGTGCCATCGGGGCGCGGGCAAAAGAGGACACCCAGGCGGCTACGGCGCGCGGTCGGAGGCAGCACGTTCAGCTCATAGAGCTGGTCCAAGAGATGGCTGTAGAGCCCTGGCCGGCTGCGGCCCACCAGGCGGTCCCGGGGAATGCGAAACTGCTCAATGCGCAGATATGGTTCCACGAGGAGGGTTGGAGGTCGGCTGGGGGCCGCTGCCTCCGCCTCCGGGCGGCCCTCCCGGGGCACGCGGTTGTGGTGGCGCGTGATGGCGAAGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACC
benign
314,039
Gene CTSA (cathepsin A) variant at chromosome position 45891598 on chromosome 20: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
benign
ACTTTGTTGCCCAGGCTTGAGCTAGCTAGCTTGCTTGCTTGCTTGCTTTCTCTCTCTTCCTCTCTCTCTCTCTTTCTTTTTTTTTTCAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGCATGTTTCTAAGAAAAGGGCAAACAATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCCTGCCCTAGGTGAATACAGGAAACACTATCAAAACTAAAAGGGAACTTGTAGGGCATCTTAATCAATCAACCAAGATAGGTACCAAGGCCCAAAACCATGTAGAGGCTTGTGCAAGATCACAAGCAGAGGTGCAATTTGAAGCTAGATTCTCCCACTCTTAAACTAGTGCCGGACAGACGAAGGCCTAGCACATGGGCTACGGAGCCCTAGTAGATTCCAGTCCCCACACTGAGCCAGGAGGGGTCGCTGCCCAGGGATACCTACAGCCATACTCGAGCTGGACAAGGCGCACGCTCTTTGTGGAAGCAAACACGTCCACCACCGCGTAGAGGGGCTGCGCAGCTGGCAGTCCCCGGGCGCTCGGGCCCATGTCCTCGCCGTTGATGATGATGTGCATGTCGGCCGTGCCATCGGGGCGCGGGCAAAAGAGGACACCCAGGCGGCTACGGCGCGCGGTCGGAGGCAGCACGTTCAGCTCATAGAGCTGGTCCAAGAGATGGCTGTAGAGCCCTGGCCGGCTGCGGCCCACCAGGCGGTCCCGGGGAATGCGAAACTGCTCAATGCGCAGATATGGTTCCACGAGGAGGGTTGGAGGTCGGCTGGGGGCCGCTGCCTCCGCCTCCGGGCGGCCCTCCCGGGGCACGCGGTTGTGGTGGCGCGTGATGGCGAAGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGC
ACTTTGTTGCCCAGGCTTGAGCTAGCTAGCTTGCTTGCTTGCTTGCTTTCTCTCTCTTCCTCTCTCTCTCTCTTTCTTTTTTTTTTCAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGCATGTTTCTAAGAAAAGGGCAAACAATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCCTGCCCTAGGTGAATACAGGAAACACTATCAAAACTAAAAGGGAACTTGTAGGGCATCTTAATCAATCAACCAAGATAGGTACCAAGGCCCAAAACCATGTAGAGGCTTGTGCAAGATCACAAGCAGAGGTGCAATTTGAAGCTAGATTCTCCCACTCTTAAACTAGTGCCGGACAGACGAAGGCCTAGCACATGGGCTACGGAGCCCTAGTAGATTCCAGTCCCCACACTGAGCCAGGAGGGGTCGCTGCCCAGGGATACCTACAGCCATACTCGAGCTGGACAAGGCGCACGCTCTTTGTGGAAGCAAACACGTCCACCACCGCGTAGAGGGGCTGCGCAGCTGGCAGTCCCCGGGCGCTCGGGCCCATGTCCTCGCCGTTGATGATGATGTGCATGTCGGCCGTGCCATCGGGGCGCGGGCAAAAGAGGACACCCAGGCGGCTACGGCGCGCGGTCGGAGGCAGCACGTTCAGCTCATAGAGCTGGTCCAAGAGATGGCTGTAGAGCCCTGGCCGGCTGCGGCCCACCAGGCGGTCCCGGGGAATGCGAAACTGCTCAATGCGCAGATATGGTTCCACGAGGAGGGTTGGAGGTCGGCTGGGGGCCGCTGCCTCCGCCTCCGGGCGGCCCTCCCGGGGCACGCGGTTGTGGTGGCGCGTGATGGCGAAGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCNNN
benign
314,040
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 20, position 45891598, gene CTSA (cathepsin A). What disease(s) is it linked to if pathogenic?
benign
ACTTTGTTGCCCAGGCTTGAGCTAGCTAGCTTGCTTGCTTGCTTGCTTTCTCTCTCTTCCTCTCTCTCTCTCTTTCTTTTTTTTTTCAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGCATGTTTCTAAGAAAAGGGCAAACAATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCCTGCCCTAGGTGAATACAGGAAACACTATCAAAACTAAAAGGGAACTTGTAGGGCATCTTAATCAATCAACCAAGATAGGTACCAAGGCCCAAAACCATGTAGAGGCTTGTGCAAGATCACAAGCAGAGGTGCAATTTGAAGCTAGATTCTCCCACTCTTAAACTAGTGCCGGACAGACGAAGGCCTAGCACATGGGCTACGGAGCCCTAGTAGATTCCAGTCCCCACACTGAGCCAGGAGGGGTCGCTGCCCAGGGATACCTACAGCCATACTCGAGCTGGACAAGGCGCACGCTCTTTGTGGAAGCAAACACGTCCACCACCGCGTAGAGGGGCTGCGCAGCTGGCAGTCCCCGGGCGCTCGGGCCCATGTCCTCGCCGTTGATGATGATGTGCATGTCGGCCGTGCCATCGGGGCGCGGGCAAAAGAGGACACCCAGGCGGCTACGGCGCGCGGTCGGAGGCAGCACGTTCAGCTCATAGAGCTGGTCCAAGAGATGGCTGTAGAGCCCTGGCCGGCTGCGGCCCACCAGGCGGTCCCGGGGAATGCGAAACTGCTCAATGCGCAGATATGGTTCCACGAGGAGGGTTGGAGGTCGGCTGGGGGCCGCTGCCTCCGCCTCCGGGCGGCCCTCCCGGGGCACGCGGTTGTGGTGGCGCGTGATGGCGAAGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGC
ACTTTGTTGCCCAGGCTTGAGCTAGCTAGCTTGCTTGCTTGCTTGCTTTCTCTCTCTTCCTCTCTCTCTCTCTTTCTTTTTTTTTTCAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGCATGTTTCTAAGAAAAGGGCAAACAATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCCTGCCCTAGGTGAATACAGGAAACACTATCAAAACTAAAAGGGAACTTGTAGGGCATCTTAATCAATCAACCAAGATAGGTACCAAGGCCCAAAACCATGTAGAGGCTTGTGCAAGATCACAAGCAGAGGTGCAATTTGAAGCTAGATTCTCCCACTCTTAAACTAGTGCCGGACAGACGAAGGCCTAGCACATGGGCTACGGAGCCCTAGTAGATTCCAGTCCCCACACTGAGCCAGGAGGGGTCGCTGCCCAGGGATACCTACAGCCATACTCGAGCTGGACAAGGCGCACGCTCTTTGTGGAAGCAAACACGTCCACCACCGCGTAGAGGGGCTGCGCAGCTGGCAGTCCCCGGGCGCTCGGGCCCATGTCCTCGCCGTTGATGATGATGTGCATGTCGGCCGTGCCATCGGGGCGCGGGCAAAAGAGGACACCCAGGCGGCTACGGCGCGCGGTCGGAGGCAGCACGTTCAGCTCATAGAGCTGGTCCAAGAGATGGCTGTAGAGCCCTGGCCGGCTGCGGCCCACCAGGCGGTCCCGGGGAATGCGAAACTGCTCAATGCGCAGATATGGTTCCACGAGGAGGGTTGGAGGTCGGCTGGGGGCCGCTGCCTCCGCCTCCGGGCGGCCCTCCCGGGGCACGCGGTTGTGGTGGCGCGTGATGGCGAAGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCNNNNNN
benign
314,041
Considering the genetic mutation at chromosome 20, position 45891678, impacting CTSA (cathepsin A): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Combined_deficiency_of_sialidase_AND_beta_galactosidase']
TTTTTTCAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGCATGTTTCTAAGAAAAGGGCAAACAATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCCTGCCCTAGGTGAATACAGGAAACACTATCAAAACTAAAAGGGAACTTGTAGGGCATCTTAATCAATCAACCAAGATAGGTACCAAGGCCCAAAACCATGTAGAGGCTTGTGCAAGATCACAAGCAGAGGTGCAATTTGAAGCTAGATTCTCCCACTCTTAAACTAGTGCCGGACAGACGAAGGCCTAGCACATGGGCTACGGAGCCCTAGTAGATTCCAGTCCCCACACTGAGCCAGGAGGGGTCGCTGCCCAGGGATACCTACAGCCATACTCGAGCTGGACAAGGCGCACGCTCTTTGTGGAAGCAAACACGTCCACCACCGCGTAGAGGGGCTGCGCAGCTGGCAGTCCCCGGGCGCTCGGGCCCATGTCCTCGCCGTTGATGATGATGTGCATGTCGGCCGTGCCATCGGGGCGCGGGCAAAAGAGGACACCCAGGCGGCTACGGCGCGCGGTCGGAGGCAGCACGTTCAGCTCATAGAGCTGGTCCAAGAGATGGCTGTAGAGCCCTGGCCGGCTGCGGCCCACCAGGCGGTCCCGGGGAATGCGAAACTGCTCAATGCGCAGATATGGTTCCACGAGGAGGGTTGGAGGTCGGCTGGGGGCCGCTGCCTCCGCCTCCGGGCGGCCCTCCCGGGGCACGCGGTTGTGGTGGCGCGTGATGGCGAAGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATC
TTTTTTCAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGCATGTTTCTAAGAAAAGGGCAAACAATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCCTGCCCTAGGTGAATACAGGAAACACTATCAAAACTAAAAGGGAACTTGTAGGGCATCTTAATCAATCAACCAAGATAGGTACCAAGGCCCAAAACCATGTAGAGGCTTGTGCAAGATCACAAGCAGAGGTGCAATTTGAAGCTAGATTCTCCCACTCTTAAACTAGTGCCGGACAGACGAAGGCCTAGCACATGGGCTACGGAGCCCTAGTAGATTCCAGTCCCCACACTGAGCCAGGAGGGGTCGCTGCCCAGGGATACCTACAGCCATACTCGAGCTGGACAAGGCGCACGCTCTTTGTGGAAGCAAACACGTCCACCACCGCGTAGAGGGGCTGCGCAGCTGGCAGTCCCCGGGCGCTCGGGCCCATGTCCTCGCCGTTGATGATGATGTGCATGTCGGCCGTGCCATCGGGGCGCGGGCAAAAGAGGACACCCAGGCGGCTACGGCGCGCGGTCGGAGGCAGCACGTTCAGCTCATAGAGCTGGTCCAAGAGATGGCTGTAGAGCCCTGGCCGGCTGCGGCCCACCAGGCGGTCCCGGGGAATGCGAAACTGCTCAATGCGCAGATATGGTTCCACGAGGAGGGTTGGAGGTCGGCTGGGGGCCGCTGCCTCCGCCTCCGGGCGGCCCTCCCGGGGCACGCGGTTGTGGTGGCGCGTGATGGCGAAGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCN
pathogenic
314,044
Does the genetic variant at chromosome 20, position 45892703, impacting gene CTSA (cathepsin A), appear benign or pathogenic? If pathogenic, name the associated disease(s).
pathogenic; ['Combined_deficiency_of_sialidase_AND_beta_galactosidase']
AGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCT
AGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTNNNNNNNNNNNNNNNNNNNNN
pathogenic
314,050
Does the variant on chromosome 20 at location 45892776 affecting gene CTSA (cathepsin A) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
pathogenic; ['Combined_deficiency_of_sialidase_AND_beta_galactosidase']
CAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGG
CAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGN
pathogenic
314,052
A genetic variant on chromosome 20, position 45892794, affects the gene CTSA (cathepsin A). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
pathogenic; ['Combined_deficiency_of_sialidase_AND_beta_galactosidase', 'Galactosialidosis,_late_infantile']
ACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTT
ACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTNN
pathogenic
314,053
Clinical classification of chromosome 20, position 45893240, gene CTSA (cathepsin A): benign or pathogenic? Disease(s) if pathogenic?
pathogenic; ['Combined_deficiency_of_sialidase_AND_beta_galactosidase']
CCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCTGCACCAACACAACAGCTGCTTCCACCTACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAG
CCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCTGCACCAACACAACAGCTGCTTCCACCTACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAGNN
pathogenic
314,056
The chromosome 20, position 45894703 genetic variant in gene CTSA (cathepsin A): benign or pathogenic? If pathogenic, indicate disease(s).
pathogenic; ['Combined_deficiency_of_sialidase_AND_beta_galactosidase']
TCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCTGCACCAACACAACAGCTGCTTCCACCTACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAGAGTCAGCCAATTCATTCTTTTATCTTTTTTAAATTTAAAATTTTTTTGTTTGAGACAAGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTCATGGGCTCAAGCAATCCTCCCACCTCCCCAGTAGCTGGGACTACAGACGCACCACCACCCCCAACAAGTTTTTGTATTTTTTGTACAGATGGTGTTTTACCACATTGCTCAGGCTGGTTTTGAACTCTGGGGCTCAAGTGATCTGCCCATTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCCCGCCCAGCCCCATTTCATTACGTAGCCACATTGGTTGTTGTTTCACAGTTCACTACAGCCTCAACCTCCTAGGCTCAAGCGATCCTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTC
TCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCTGCACCAACACAACAGCTGCTTCCACCTACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAGAGTCAGCCAATTCATTCTTTTATCTTTTTTAAATTTAAAATTTTTTTGTTTGAGACAAGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTCATGGGCTCAAGCAATCCTCCCACCTCCCCAGTAGCTGGGACTACAGACGCACCACCACCCCCAACAAGTTTTTGTATTTTTTGTACAGATGGTGTTTTACCACATTGCTCAGGCTGGTTTTGAACTCTGGGGCTCAAGTGATCTGCCCATTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCCCGCCCAGCCCCATTTCATTACGTAGCCACATTGGTTGTTGTTTCACAGTTCACTACAGCCTCAACCTCCTAGGCTCAAGCGATCCTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTCNN
pathogenic
314,066
The chromosome 20, position 45894803 genetic variant in gene CTSA (cathepsin A): benign or pathogenic? If pathogenic, indicate disease(s).
benign
GATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCTGCACCAACACAACAGCTGCTTCCACCTACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAGAGTCAGCCAATTCATTCTTTTATCTTTTTTAAATTTAAAATTTTTTTGTTTGAGACAAGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTCATGGGCTCAAGCAATCCTCCCACCTCCCCAGTAGCTGGGACTACAGACGCACCACCACCCCCAACAAGTTTTTGTATTTTTTGTACAGATGGTGTTTTACCACATTGCTCAGGCTGGTTTTGAACTCTGGGGCTCAAGTGATCTGCCCATTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCCCGCCCAGCCCCATTTCATTACGTAGCCACATTGGTTGTTGTTTCACAGTTCACTACAGCCTCAACCTCCTAGGCTCAAGCGATCCTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTCTAAATGGTGGTGAGTTGAGGCTGTCTGAATCCCAGCCCATCCAGCCCAACATCCAAGTCAGTCCTAGAGAGGTGGCCCCCCCCCAAAAAGGGGAGTGGAA
GATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCTGCACCAACACAACAGCTGCTTCCACCTACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAGAGTCAGCCAATTCATTCTTTTATCTTTTTTAAATTTAAAATTTTTTTGTTTGAGACAAGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTCATGGGCTCAAGCAATCCTCCCACCTCCCCAGTAGCTGGGACTACAGACGCACCACCACCCCCAACAAGTTTTTGTATTTTTTGTACAGATGGTGTTTTACCACATTGCTCAGGCTGGTTTTGAACTCTGGGGCTCAAGTGATCTGCCCATTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCCCGCCCAGCCCCATTTCATTACGTAGCCACATTGGTTGTTGTTTCACAGTTCACTACAGCCTCAACCTCCTAGGCTCAAGCGATCCTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTCTAAATGGTGGTGAGTTGAGGCTGTCTGAATCCCAGCCCATCCAGCCCAACATCCAAGTCAGTCCTAGAGAGGTGGCCCCCCCCCAAAAAGGGGAGTGGAAN
benign
314,068
The mutation impacting CTSA (cathepsin A) on chromosome 20 at position 45895028: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Combined_deficiency_of_sialidase_AND_beta_galactosidase']
TTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCTGCACCAACACAACAGCTGCTTCCACCTACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAGAGTCAGCCAATTCATTCTTTTATCTTTTTTAAATTTAAAATTTTTTTGTTTGAGACAAGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTCATGGGCTCAAGCAATCCTCCCACCTCCCCAGTAGCTGGGACTACAGACGCACCACCACCCCCAACAAGTTTTTGTATTTTTTGTACAGATGGTGTTTTACCACATTGCTCAGGCTGGTTTTGAACTCTGGGGCTCAAGTGATCTGCCCATTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCCCGCCCAGCCCCATTTCATTACGTAGCCACATTGGTTGTTGTTTCACAGTTCACTACAGCCTCAACCTCCTAGGCTCAAGCGATCCTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTCTAAATGGTGGTGAGTTGAGGCTGTCTGAATCCCAGCCCATCCAGCCCAACATCCAAGTCAGTCCTAGAGAGGTGGCCCCCCCCCAAAAAGGGGAGTGGAACCCAGCTGTCTGCCTTCTGGGTTGGAGCTTGGAGATAGGAGAGAAGGTCTGATCTGTTGACTACTTTTCGCCCCGACCTGGTCTTCCTGGGGCCTGCTCGTATGTTCCCGGCAGCTTTCTGGTAAACTTACAGTACCGCCGTCTCTACCGAAGCATGAACTCCCAGTATCTGAAGCTGCTTAGCTCACAGGTGAGTGGGGAGAGCACAGCTGGATCACCAGCAGC
TTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCCTGCACCAACACAACAGCTGCTTCCACCTACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAGAGTCAGCCAATTCATTCTTTTATCTTTTTTAAATTTAAAATTTTTTTGTTTGAGACAAGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTCATGGGCTCAAGCAATCCTCCCACCTCCCCAGTAGCTGGGACTACAGACGCACCACCACCCCCAACAAGTTTTTGTATTTTTTGTACAGATGGTGTTTTACCACATTGCTCAGGCTGGTTTTGAACTCTGGGGCTCAAGTGATCTGCCCATTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCCCGCCCAGCCCCATTTCATTACGTAGCCACATTGGTTGTTGTTTCACAGTTCACTACAGCCTCAACCTCCTAGGCTCAAGCGATCCTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTCTAAATGGTGGTGAGTTGAGGCTGTCTGAATCCCAGCCCATCCAGCCCAACATCCAAGTCAGTCCTAGAGAGGTGGCCCCCCCCCAAAAAGGGGAGTGGAACCCAGCTGTCTGCCTTCTGGGTTGGAGCTTGGAGATAGGAGAGAAGGTCTGATCTGTTGACTACTTTTCGCCCCGACCTGGTCTTCCTGGGGCCTGCTCGTATGTTCCCGGCAGCTTTCTGGTAAACTTACAGTACCGCCGTCTCTACCGAAGCATGAACTCCCAGTATCTGAAGCTGCTTAGCTCACAGGTGAGTGGGGAGAGCACAGCTGGATCACCAGCAG
pathogenic
314,073
A genetic variant on chromosome 20, position 45895049, affects the gene CTSA (cathepsin A). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
pathogenic; ['Combined_deficiency_of_sialidase_AND_beta_galactosidase']
ACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCTGCACCAACACAACAGCTGCTTCCACCTACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAGAGTCAGCCAATTCATTCTTTTATCTTTTTTAAATTTAAAATTTTTTTGTTTGAGACAAGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTCATGGGCTCAAGCAATCCTCCCACCTCCCCAGTAGCTGGGACTACAGACGCACCACCACCCCCAACAAGTTTTTGTATTTTTTGTACAGATGGTGTTTTACCACATTGCTCAGGCTGGTTTTGAACTCTGGGGCTCAAGTGATCTGCCCATTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCCCGCCCAGCCCCATTTCATTACGTAGCCACATTGGTTGTTGTTTCACAGTTCACTACAGCCTCAACCTCCTAGGCTCAAGCGATCCTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTCTAAATGGTGGTGAGTTGAGGCTGTCTGAATCCCAGCCCATCCAGCCCAACATCCAAGTCAGTCCTAGAGAGGTGGCCCCCCCCCAAAAAGGGGAGTGGAACCCAGCTGTCTGCCTTCTGGGTTGGAGCTTGGAGATAGGAGAGAAGGTCTGATCTGTTGACTACTTTTCGCCCCGACCTGGTCTTCCTGGGGCCTGCTCGTATGTTCCCGGCAGCTTTCTGGTAAACTTACAGTACCGCCGTCTCTACCGAAGCATGAACTCCCAGTATCTGAAGCTGCTTAGCTCACAGGTGAGTGGGGAGAGCACAGCTGGATCACCAGCAGCCTTAGGACCCCAGAGTAGCAC
ACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCTGCACCAACACAACGCTGCTTCCACCTACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAGAGTCAGCCAATTCATTCTTTTATCTTTTTTAAATTTAAAATTTTTTTGTTTGAGACAAGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTCATGGGCTCAAGCAATCCTCCCACCTCCCCAGTAGCTGGGACTACAGACGCACCACCACCCCCAACAAGTTTTTGTATTTTTTGTACAGATGGTGTTTTACCACATTGCTCAGGCTGGTTTTGAACTCTGGGGCTCAAGTGATCTGCCCATTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCCCGCCCAGCCCCATTTCATTACGTAGCCACATTGGTTGTTGTTTCACAGTTCACTACAGCCTCAACCTCCTAGGCTCAAGCGATCCTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTCTAAATGGTGGTGAGTTGAGGCTGTCTGAATCCCAGCCCATCCAGCCCAACATCCAAGTCAGTCCTAGAGAGGTGGCCCCCCCCCAAAAAGGGGAGTGGAACCCAGCTGTCTGCCTTCTGGGTTGGAGCTTGGAGATAGGAGAGAAGGTCTGATCTGTTGACTACTTTTCGCCCCGACCTGGTCTTCCTGGGGCCTGCTCGTATGTTCCCGGCAGCTTTCTGGTAAACTTACAGTACCGCCGTCTCTACCGAAGCATGAACTCCCAGTATCTGAAGCTGCTTAGCTCACAGGTGAGTGGGGAGAGCACAGCTGGATCACCAGCAGCCTTAGGACCCCAGAGTAGCACN
pathogenic
314,074
The mutation in gene CTSA (cathepsin A) at chromosome 20, position 45895063—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Combined_deficiency_of_sialidase_AND_beta_galactosidase']
GTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCTGCACCAACACAACAGCTGCTTCCACCTACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAGAGTCAGCCAATTCATTCTTTTATCTTTTTTAAATTTAAAATTTTTTTGTTTGAGACAAGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTCATGGGCTCAAGCAATCCTCCCACCTCCCCAGTAGCTGGGACTACAGACGCACCACCACCCCCAACAAGTTTTTGTATTTTTTGTACAGATGGTGTTTTACCACATTGCTCAGGCTGGTTTTGAACTCTGGGGCTCAAGTGATCTGCCCATTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCCCGCCCAGCCCCATTTCATTACGTAGCCACATTGGTTGTTGTTTCACAGTTCACTACAGCCTCAACCTCCTAGGCTCAAGCGATCCTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTCTAAATGGTGGTGAGTTGAGGCTGTCTGAATCCCAGCCCATCCAGCCCAACATCCAAGTCAGTCCTAGAGAGGTGGCCCCCCCCCAAAAAGGGGAGTGGAACCCAGCTGTCTGCCTTCTGGGTTGGAGCTTGGAGATAGGAGAGAAGGTCTGATCTGTTGACTACTTTTCGCCCCGACCTGGTCTTCCTGGGGCCTGCTCGTATGTTCCCGGCAGCTTTCTGGTAAACTTACAGTACCGCCGTCTCTACCGAAGCATGAACTCCCAGTATCTGAAGCTGCTTAGCTCACAGGTGAGTGGGGAGAGCACAGCTGGATCACCAGCAGCCTTAGGACCCCAGAGTAGCACAGCAAGCTGGGGGC
GTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCTGCACCAACACAACAGCTGCTTCCACCTAACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAGAGTCAGCCAATTCATTCTTTTATCTTTTTTAAATTTAAAATTTTTTTGTTTGAGACAAGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTCATGGGCTCAAGCAATCCTCCCACCTCCCCAGTAGCTGGGACTACAGACGCACCACCACCCCCAACAAGTTTTTGTATTTTTTGTACAGATGGTGTTTTACCACATTGCTCAGGCTGGTTTTGAACTCTGGGGCTCAAGTGATCTGCCCATTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCCCGCCCAGCCCCATTTCATTACGTAGCCACATTGGTTGTTGTTTCACAGTTCACTACAGCCTCAACCTCCTAGGCTCAAGCGATCCTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTCTAAATGGTGGTGAGTTGAGGCTGTCTGAATCCCAGCCCATCCAGCCCAACATCCAAGTCAGTCCTAGAGAGGTGGCCCCCCCCCAAAAAGGGGAGTGGAACCCAGCTGTCTGCCTTCTGGGTTGGAGCTTGGAGATAGGAGAGAAGGTCTGATCTGTTGACTACTTTTCGCCCCGACCTGGTCTTCCTGGGGCCTGCTCGTATGTTCCCGGCAGCTTTCTGGTAAACTTACAGTACCGCCGTCTCTACCGAAGCATGAACTCCCAGTATCTGAAGCTGCTTAGCTCACAGGTGAGTGGGGAGAGCACAGCTGGATCACCAGCAGCCTTAGGACCCCAGAGTAGCACAGCAAGCTGGGGG
pathogenic
314,075
Variant in SLC2A10 (solute carrier family 2 member 10), chromosome 20, position 46725514—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Arterial_tortuosity_syndrome', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection']
ATTGATTGGGCCACATTCACCTCATTTAGCATCTCCATACAACAGCAAGAGCAATATTTTAAAAATTAAAAATAGATGACCGATTTGTTTCCTGTTGGGACTCATAAAAAATGAAAAATAAAAGTAGATCACCTCATTCCTGGCTGAAGCCAGCAAAGGCTTCCAACCACTGAGAATGACATTCCTCATTGTCCTCTTGACTTGCAAAGCCCCACATGATCTGGCCCCTGCCTATTTCTCCTGCCTCATCATCTCCCATCACTCTCACTCACTGGGCTTCAGCCTCTGGCCTCCTGTCTGATTACCTCAGTGATTAAAGGTCCTCACTTTAGCCACATCATCTCTACAACTTACTTGTTATGTGACCATGAGAAAGTTTCTTAACTTCTCTGCACTTTGGAGGATGATATGTTATAGGGTAGCTGTAACAATTAAATGAGAAAATACATATAAAGCTCTTAAAACAGATTCTGGCATTTAGTAAGGGCCATATAAGTACTAACCATTAATATCCATAGTTGTTCAAACACCAAGAACTGTCCTACCTCAGGGCCTCTGTACTTTGTGTTCACTCTGTCTAGGATGTTCTTCTCCCAGATTTTCCTGGGACTTTCATGTCACTCAAATCTCTGCTCAAATTTTTGCTCTTCAGAGAGGCCTTAAAATAGTACTACTCCATCAACCTTAATTCTCCTTCCCTGCTTCATTTTTTATGACATCTTCACTATCTGAAATTATATACTTATTTATCATCTTCCTATTTCTTCTAGAACTTTAGATCCTGGACAACACATCTGTATTCCAGCCCTAAGAGCACTTCCTGGCATGTTGTAAATGCCAGATAAATAAATTTAGATGGATGGATAGATGGATGGATGGATGGACTGATGTGTGGATGAGTATACAAAGGGATGAAATACAGAGATGGGTGGATGAATGGATGGATTTGTAGATAGACTGATCAACAAATTGATGGATGGTTGGGTGAATTAAGGTATAGATAAATGGACATGCAGATGGATGAATATTTGGATGGATGAAGTAGATGAATGGATGGAGGATGCATAGATGGATGGATGGGTGGTTGAATAGATGGAGTGGATGGAAGAATGGATGGATAGTTAAATGGATGATTGAACAGATGGTGTAGATGGATGGTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGAGTGGATGGATAGATGGATAGATGGATCAGTGAATGGTTGAATGGGTGGTTGAACAGATGGAGTAGATGGATGGAGGATGAATGGATGGATGGTTGAATTGATGGAGTGGATGGATGGACAGATGGAAGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGAATTGATGGAGTGGATGGATGGACGGATGGATGGATGGATGGATGGATGGATGGTTTGAATGGATGGTTGAATAGATGGAGTAGATGGATGGATAAATGAAGGTGTTGACAGATGGAGGGAAGGTTGAATGGATGGATGGTATGACAAGGAACCATTCTAACTCTGTCCCTCTCACTTTTGTTTTTTAGGCCACTCCCCACCTGTCCTGCCTTTGTGTGCCTCTGTGTCTTTGCTGGGTGGCCTGACCTTTGGTTATGAACTGGCAGTCATATCAGGTGCCCTGCTGCCACTGCAGCTTGACTTTGGGCTAAGCTGCTTGGAGCAGGAGTTCCTGGTGGGCAGCCTGCTCCTGGGGGCTCTCCTCGCCTCCCTGGTTGGTGGCTTCCTCATTGACTGCTATGGCAGGAAGCAAGCCATCCTCGGGAGCAACTTGGTGCTGCTGGCAGGCAGCCTGACCCTGGGCCTGGCTGGTTCCCTGGCCTGGCTGGTCCTGGGCCGCGCTGTGGTTGGCTTCGCCATTTCCCTCTCCTCCATGGCTTGCTGTATCTACGTGTCAGAGCTGGTGGGGCCACGGCAGCGGGGAGTGCTGGTGTCCCTCTATGAGGCAGGCATCACCGTGGGCATCCTGCTCTCCTATGCCCTCAACTATGCACTGGCTGGTACCCCCTGGGGATGGAGGCACATGTTCGGCTGGGCCACTGCACCTGCTGTCCTGCAATCCCTCAGCCTCCTCTTCCTCCCTGCTGGTACAGATGAGACTGCAACACACAAGGACCTCATCCCACTCCAGGGAGGTGAGGCCCCCAAGCTGGGCCCGGGGAGGCCACGGTACTCCTTTCTGGACCTCTTCAGGGCACGCGATAACATGCGAGGCCGGACCACAGTGGGCCTGGGGCTGGTGCTCTTCCAGCAACTAACAGGGCAGCCCAACGTGCTGTGCTATGCCTCCACCATCTTCAGCTCCGTTGGTTTCCATGGGGGATCCTCAGCCGTGCTGGCCTCTGTGGGGCTTGGCGCAGTGAAGGTGGCAGCTACCCTGACCGCCATGGGGCTGGTGGACCGTGCAGGCCGCAGGGCTCTGTTGCTAGCTGGCTGTGCCCTCATGGCCCTGTCCGTCAGTGGCATAGGCCTCGTCAGCTTTGCCGTGCCCATGGACTCAGGCCCAAGCTGTCTGGCTGTGCCCAATGCCACCGGGCAGACAGGCCTCCCTGGAGACTCTGGCCTGCTGCAGGACTCCTCTCTACCTCCCATTCCAAGGACCAATGAGGACCAAAGGGAGCCAATCTTGTCCACTGCTAAGAAAACCAAGCCCCATCCCAGATCTGGAGACCCCTCAGCCCCTCCTCGGCTGGCCCTGAGCTCTGCCCTCCCTGGGCCCCCTCTGCCCGCTCGGGGGCATGCACTGCTGCGCTGGACCGCACTGCTGTGCCTGATGGTCTTTGTCAGTGCCTTCTCCTTTGGGTTTGGGCCAGGTAAGTGGAGTTTTCTTGCAGGTGACTCTGGAGACTTCTACCCCTCCTAGGGGGAAGTTTGGGGACTTCCCACCCTGATGACCTGGCAGGGTGTCAGTGGGGCACTAGAGGTGGGTTGACCATGAAGCCTCAGGGCCCCTCACTTACCTGCAGTTGCTCCTCCCAGGGCCAGTGCCTAATTTTATGTTTGTAATTTGTATTCCTTAAAAGCCTCCCCAAGTCATTTGAGCTTCAGGTCCCTTAAAGCCCGGATAGCTCACAACTGGAAGGAATTTAATGAATAGCGTGAAAACCAATCATCCCAGTTCGTCCAAGACTGTTCCCATCTCGGCATTGAAAGTCTCATGTCTCAGAAAACCTCTCAGTCTTCAGCAAACTGAGACTCTACTGTAATTCTTATAGCAGAATGGGAGTGGGAGTTTAGTATCAGGAGCCTGACACTAGAAAATCCCATTGTTGAGAGGCTGCATGTTTGACCTGATGGTGCCAGGCCCCAGGTCCCACCACAGCCCAGGAGCCCTCCTGCTCTCCCACCCTAGTGACCTGGCTTGTCCTCAGCGAGATCTACCCTGTGGAGATACGAGGAAGAGCCTTCGCCTTCTGCAACAGCTTCAACTGGGCGGCCAACCTCTTCATCAGCCTCTCCTTCCTCGATCTCATTGGTGAGTCCTTCCCAGACAAGTCCGTTTTTTTTCTGTGGCCCAAGCTCCCTACTCTAAAGCAGAAATTTTTGGATTTTCCTATGTATTAGCTGCAGAACTATTATTCTGTGCAGAAACATCATCAAATGTCCAAGACGACATCCAGGACCCTCATATGCACTGTAAAACTCCCCAGGCCAGCTAATGGGTGATGGTCTACACCCAGTACTGGTGAGAGGTCATCTGAGGTCAACCGGCAGGAGTAAGAGTAGCAATGTTTATTTGCTCCAAACTGGCTTAAACTGGTTCATGACACCTGCCAGGTGGAAGTTTTTCTTGGCTTTTCTTTTCTTTTTAATTTTTAATTTTTTTTGAGATGGAATCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAACTATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCAGGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGAT
ATTGATTGGGCCACATTCACCTCATTTAGCATCTCCATACAACAGCAAGAGCAATATTTTAAAAATTAAAAATAGATGACCGATTTGTTTCCTGTTGGGACTCATAAAAAATGAAAAATAAAAGTAGATCACCTCATTCCTGGCTGAAGCCAGCAAAGGCTTCCAACCACTGAGAATGACATTCCTCATTGTCCTCTTGACTTGCAAAGCCCCACATGATCTGGCCCCTGCCTATTTCTCCTGCCTCATCATCTCCCATCACTCTCACTCACTGGGCTTCAGCCTCTGGCCTCCTGTCTGATTACCTCAGTGATTAAAGGTCCTCACTTTAGCCACATCATCTCTACAACTTACTTGTTATGTGACCATGAGAAAGTTTCTTAACTTCTCTGCACTTTGGAGGATGATATGTTATAGGGTAGCTGTAACAATTAAATGAGAAAATACATATAAAGCTCTTAAAACAGATTCTGGCATTTAGTAAGGGCCATATAAGTACTAACCATTAATATCCATAGTTGTTCAAACACCAAGAACTGTCCTACCTCAGGGCCTCTGTACTTTGTGTTCACTCTGTCTAGGATGTTCTTCTCCCAGATTTTCCTGGGACTTTCATGTCACTCAAATCTCTGCTCAAATTTTTGCTCTTCAGAGAGGCCTTAAAATAGTACTACTCCATCAACCTTAATTCTCCTTCCCTGCTTCATTTTTTATGACATCTTCACTATCTGAAATTATATACTTATTTATCATCTTCCTATTTCTTCTAGAACTTTAGATCCTGGACAACACATCTGTATTCCAGCCCTAAGAGCACTTCCTGGCATGTTGTAAATGCCAGATAAATAAATTTAGATGGATGGATAGATGGATGGATGGATGGACTGATGTGTGGATGAGTATACAAAGGGATGAAATACAGAGATGGGTGGATGAATGGATGGATTTGTAGATAGACTGATCAACAAATTGATGGATGGTTGGGTGAATTAAGGTATAGATAAATGGACATGCAGATGGATGAATATTTGGATGGATGAAGTAGATGAATGGATGGAGGATGCATAGATGGATGGATGGGTGGTTGAATAGATGGAGTGGATGGAAGAATGGATGGATAGTTAAATGGATGATTGAACAGATGGTGTAGATGGATGGTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGAGTGGATGGATAGATGGATAGATGGATCAGTGAATGGTTGAATGGGTGGTTGAACAGATGGAGTAGATGGATGGAGGATGAATGGATGGATGGTTGAATTGATGGAGTGGATGGATGGACAGATGGAAGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGAATTGATGGAGTGGATGGATGGACGGATGGATGGATGGATGGATGGATGGATGGTTTGAATGGATGGTTGAATAGATGGAGTAGATGGATGGATAAATGAAGGTGTTGACAGATGGAGGGAAGGTTGAATGGATGGATGGTATGACAAGGAACCATTCTAACTCTGTCCCTCTCACTTTTGTTTTTTAGGCCACTCCCCACCTGTCCTGCCTTTGTGTGCCTCTGTGTCTTTGCTGGGTGGCCTGACCTTTGGTTATGAACTGGCAGTCATATCAGGTGCCCTGCTGCCACTGCAGCTTGACTTTGGGCTAAGCTGCTTGGAGCAGGAGTTCCTGGTGGGCAGCCTGCTCCTGGGGGCTCTCCTCGCCTCCCTGGTTGGTGGCTTCCTCATTGACTGCTATGGCAGGAAGCAAGCCATCCTCGGGAGCAACTTGGTGCTGCTGGCAGGCAGCCTGACCCTGGGCCTGGCTGGTTCCCTGGCCTGGCTGGTCCTGGGCCGCGCTGTGGTTGGCTTCGCCATTTCCCTCTCCTCCATGGCTTGCTGTATCTACGTGTCAGAGCTGGTGGGGCCACGGCAGCGGGGAGTGCTGGTGTCCCTCTATGAGGCAGGCATCACCGTGGGCATCCTGCTCTCCTATGCCCTCAACTATGCACTGGCTGGTACCCCTGGGGATGGAGGCACATGTTCGGCTGGGCCACTGCACCTGCTGTCCTGCAATCCCTCAGCCTCCTCTTCCTCCCTGCTGGTACAGATGAGACTGCAACACACAAGGACCTCATCCCACTCCAGGGAGGTGAGGCCCCCAAGCTGGGCCCGGGGAGGCCACGGTACTCCTTTCTGGACCTCTTCAGGGCACGCGATAACATGCGAGGCCGGACCACAGTGGGCCTGGGGCTGGTGCTCTTCCAGCAACTAACAGGGCAGCCCAACGTGCTGTGCTATGCCTCCACCATCTTCAGCTCCGTTGGTTTCCATGGGGGATCCTCAGCCGTGCTGGCCTCTGTGGGGCTTGGCGCAGTGAAGGTGGCAGCTACCCTGACCGCCATGGGGCTGGTGGACCGTGCAGGCCGCAGGGCTCTGTTGCTAGCTGGCTGTGCCCTCATGGCCCTGTCCGTCAGTGGCATAGGCCTCGTCAGCTTTGCCGTGCCCATGGACTCAGGCCCAAGCTGTCTGGCTGTGCCCAATGCCACCGGGCAGACAGGCCTCCCTGGAGACTCTGGCCTGCTGCAGGACTCCTCTCTACCTCCCATTCCAAGGACCAATGAGGACCAAAGGGAGCCAATCTTGTCCACTGCTAAGAAAACCAAGCCCCATCCCAGATCTGGAGACCCCTCAGCCCCTCCTCGGCTGGCCCTGAGCTCTGCCCTCCCTGGGCCCCCTCTGCCCGCTCGGGGGCATGCACTGCTGCGCTGGACCGCACTGCTGTGCCTGATGGTCTTTGTCAGTGCCTTCTCCTTTGGGTTTGGGCCAGGTAAGTGGAGTTTTCTTGCAGGTGACTCTGGAGACTTCTACCCCTCCTAGGGGGAAGTTTGGGGACTTCCCACCCTGATGACCTGGCAGGGTGTCAGTGGGGCACTAGAGGTGGGTTGACCATGAAGCCTCAGGGCCCCTCACTTACCTGCAGTTGCTCCTCCCAGGGCCAGTGCCTAATTTTATGTTTGTAATTTGTATTCCTTAAAAGCCTCCCCAAGTCATTTGAGCTTCAGGTCCCTTAAAGCCCGGATAGCTCACAACTGGAAGGAATTTAATGAATAGCGTGAAAACCAATCATCCCAGTTCGTCCAAGACTGTTCCCATCTCGGCATTGAAAGTCTCATGTCTCAGAAAACCTCTCAGTCTTCAGCAAACTGAGACTCTACTGTAATTCTTATAGCAGAATGGGAGTGGGAGTTTAGTATCAGGAGCCTGACACTAGAAAATCCCATTGTTGAGAGGCTGCATGTTTGACCTGATGGTGCCAGGCCCCAGGTCCCACCACAGCCCAGGAGCCCTCCTGCTCTCCCACCCTAGTGACCTGGCTTGTCCTCAGCGAGATCTACCCTGTGGAGATACGAGGAAGAGCCTTCGCCTTCTGCAACAGCTTCAACTGGGCGGCCAACCTCTTCATCAGCCTCTCCTTCCTCGATCTCATTGGTGAGTCCTTCCCAGACAAGTCCGTTTTTTTTCTGTGGCCCAAGCTCCCTACTCTAAAGCAGAAATTTTTGGATTTTCCTATGTATTAGCTGCAGAACTATTATTCTGTGCAGAAACATCATCAAATGTCCAAGACGACATCCAGGACCCTCATATGCACTGTAAAACTCCCCAGGCCAGCTAATGGGTGATGGTCTACACCCAGTACTGGTGAGAGGTCATCTGAGGTCAACCGGCAGGAGTAAGAGTAGCAATGTTTATTTGCTCCAAACTGGCTTAAACTGGTTCATGACACCTGCCAGGTGGAAGTTTTTCTTGGCTTTTCTTTTCTTTTTAATTTTTAATTTTTTTTGAGATGGAATCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAACTATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCAGGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATN
pathogenic
314,343
Is chromosome 20, position 46725763, gene SLC2A10 (solute carrier family 2 member 10) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Arterial_tortuosity_syndrome', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection']
CATCTCCCATCACTCTCACTCACTGGGCTTCAGCCTCTGGCCTCCTGTCTGATTACCTCAGTGATTAAAGGTCCTCACTTTAGCCACATCATCTCTACAACTTACTTGTTATGTGACCATGAGAAAGTTTCTTAACTTCTCTGCACTTTGGAGGATGATATGTTATAGGGTAGCTGTAACAATTAAATGAGAAAATACATATAAAGCTCTTAAAACAGATTCTGGCATTTAGTAAGGGCCATATAAGTACTAACCATTAATATCCATAGTTGTTCAAACACCAAGAACTGTCCTACCTCAGGGCCTCTGTACTTTGTGTTCACTCTGTCTAGGATGTTCTTCTCCCAGATTTTCCTGGGACTTTCATGTCACTCAAATCTCTGCTCAAATTTTTGCTCTTCAGAGAGGCCTTAAAATAGTACTACTCCATCAACCTTAATTCTCCTTCCCTGCTTCATTTTTTATGACATCTTCACTATCTGAAATTATATACTTATTTATCATCTTCCTATTTCTTCTAGAACTTTAGATCCTGGACAACACATCTGTATTCCAGCCCTAAGAGCACTTCCTGGCATGTTGTAAATGCCAGATAAATAAATTTAGATGGATGGATAGATGGATGGATGGATGGACTGATGTGTGGATGAGTATACAAAGGGATGAAATACAGAGATGGGTGGATGAATGGATGGATTTGTAGATAGACTGATCAACAAATTGATGGATGGTTGGGTGAATTAAGGTATAGATAAATGGACATGCAGATGGATGAATATTTGGATGGATGAAGTAGATGAATGGATGGAGGATGCATAGATGGATGGATGGGTGGTTGAATAGATGGAGTGGATGGAAGAATGGATGGATAGTTAAATGGATGATTGAACAGATGGTGTAGATGGATGGTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGAGTGGATGGATAGATGGATAGATGGATCAGTGAATGGTTGAATGGGTGGTTGAACAGATGGAGTAGATGGATGGAGGATGAATGGATGGATGGTTGAATTGATGGAGTGGATGGATGGACAGATGGAAGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGAATTGATGGAGTGGATGGATGGACGGATGGATGGATGGATGGATGGATGGATGGTTTGAATGGATGGTTGAATAGATGGAGTAGATGGATGGATAAATGAAGGTGTTGACAGATGGAGGGAAGGTTGAATGGATGGATGGTATGACAAGGAACCATTCTAACTCTGTCCCTCTCACTTTTGTTTTTTAGGCCACTCCCCACCTGTCCTGCCTTTGTGTGCCTCTGTGTCTTTGCTGGGTGGCCTGACCTTTGGTTATGAACTGGCAGTCATATCAGGTGCCCTGCTGCCACTGCAGCTTGACTTTGGGCTAAGCTGCTTGGAGCAGGAGTTCCTGGTGGGCAGCCTGCTCCTGGGGGCTCTCCTCGCCTCCCTGGTTGGTGGCTTCCTCATTGACTGCTATGGCAGGAAGCAAGCCATCCTCGGGAGCAACTTGGTGCTGCTGGCAGGCAGCCTGACCCTGGGCCTGGCTGGTTCCCTGGCCTGGCTGGTCCTGGGCCGCGCTGTGGTTGGCTTCGCCATTTCCCTCTCCTCCATGGCTTGCTGTATCTACGTGTCAGAGCTGGTGGGGCCACGGCAGCGGGGAGTGCTGGTGTCCCTCTATGAGGCAGGCATCACCGTGGGCATCCTGCTCTCCTATGCCCTCAACTATGCACTGGCTGGTACCCCCTGGGGATGGAGGCACATGTTCGGCTGGGCCACTGCACCTGCTGTCCTGCAATCCCTCAGCCTCCTCTTCCTCCCTGCTGGTACAGATGAGACTGCAACACACAAGGACCTCATCCCACTCCAGGGAGGTGAGGCCCCCAAGCTGGGCCCGGGGAGGCCACGGTACTCCTTTCTGGACCTCTTCAGGGCACGCGATAACATGCGAGGCCGGACCACAGTGGGCCTGGGGCTGGTGCTCTTCCAGCAACTAACAGGGCAGCCCAACGTGCTGTGCTATGCCTCCACCATCTTCAGCTCCGTTGGTTTCCATGGGGGATCCTCAGCCGTGCTGGCCTCTGTGGGGCTTGGCGCAGTGAAGGTGGCAGCTACCCTGACCGCCATGGGGCTGGTGGACCGTGCAGGCCGCAGGGCTCTGTTGCTAGCTGGCTGTGCCCTCATGGCCCTGTCCGTCAGTGGCATAGGCCTCGTCAGCTTTGCCGTGCCCATGGACTCAGGCCCAAGCTGTCTGGCTGTGCCCAATGCCACCGGGCAGACAGGCCTCCCTGGAGACTCTGGCCTGCTGCAGGACTCCTCTCTACCTCCCATTCCAAGGACCAATGAGGACCAAAGGGAGCCAATCTTGTCCACTGCTAAGAAAACCAAGCCCCATCCCAGATCTGGAGACCCCTCAGCCCCTCCTCGGCTGGCCCTGAGCTCTGCCCTCCCTGGGCCCCCTCTGCCCGCTCGGGGGCATGCACTGCTGCGCTGGACCGCACTGCTGTGCCTGATGGTCTTTGTCAGTGCCTTCTCCTTTGGGTTTGGGCCAGGTAAGTGGAGTTTTCTTGCAGGTGACTCTGGAGACTTCTACCCCTCCTAGGGGGAAGTTTGGGGACTTCCCACCCTGATGACCTGGCAGGGTGTCAGTGGGGCACTAGAGGTGGGTTGACCATGAAGCCTCAGGGCCCCTCACTTACCTGCAGTTGCTCCTCCCAGGGCCAGTGCCTAATTTTATGTTTGTAATTTGTATTCCTTAAAAGCCTCCCCAAGTCATTTGAGCTTCAGGTCCCTTAAAGCCCGGATAGCTCACAACTGGAAGGAATTTAATGAATAGCGTGAAAACCAATCATCCCAGTTCGTCCAAGACTGTTCCCATCTCGGCATTGAAAGTCTCATGTCTCAGAAAACCTCTCAGTCTTCAGCAAACTGAGACTCTACTGTAATTCTTATAGCAGAATGGGAGTGGGAGTTTAGTATCAGGAGCCTGACACTAGAAAATCCCATTGTTGAGAGGCTGCATGTTTGACCTGATGGTGCCAGGCCCCAGGTCCCACCACAGCCCAGGAGCCCTCCTGCTCTCCCACCCTAGTGACCTGGCTTGTCCTCAGCGAGATCTACCCTGTGGAGATACGAGGAAGAGCCTTCGCCTTCTGCAACAGCTTCAACTGGGCGGCCAACCTCTTCATCAGCCTCTCCTTCCTCGATCTCATTGGTGAGTCCTTCCCAGACAAGTCCGTTTTTTTTCTGTGGCCCAAGCTCCCTACTCTAAAGCAGAAATTTTTGGATTTTCCTATGTATTAGCTGCAGAACTATTATTCTGTGCAGAAACATCATCAAATGTCCAAGACGACATCCAGGACCCTCATATGCACTGTAAAACTCCCCAGGCCAGCTAATGGGTGATGGTCTACACCCAGTACTGGTGAGAGGTCATCTGAGGTCAACCGGCAGGAGTAAGAGTAGCAATGTTTATTTGCTCCAAACTGGCTTAAACTGGTTCATGACACCTGCCAGGTGGAAGTTTTTCTTGGCTTTTCTTTTCTTTTTAATTTTTAATTTTTTTTGAGATGGAATCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAACTATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCAGGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGTAATCCCAAAGTGCTGGGATTACGGGCATGAGCCACCGTGTCTGGCCTGGAAGTTTTTCTCAAATCAAGTTTGGGTGACATCATCTCTTCCTCCCTAGCATTGAAACCCATTCTGAGGTGTGGTGGGATGGGGTGGAAATGATGTGGGCCCAGAACACCAGGGAATGACTCTGAGATGCTGAGATGCTCATGGCTCCAGGCCCTGGTCTTCAGTGGGTATTGCTCATCTGGGCCAGAGTACA
CATCTCCCATCACTCTCACTCACTGGGCTTCAGCCTCTGGCCTCCTGTCTGATTACCTCAGTGATTAAAGGTCCTCACTTTAGCCACATCATCTCTACAACTTACTTGTTATGTGACCATGAGAAAGTTTCTTAACTTCTCTGCACTTTGGAGGATGATATGTTATAGGGTAGCTGTAACAATTAAATGAGAAAATACATATAAAGCTCTTAAAACAGATTCTGGCATTTAGTAAGGGCCATATAAGTACTAACCATTAATATCCATAGTTGTTCAAACACCAAGAACTGTCCTACCTCAGGGCCTCTGTACTTTGTGTTCACTCTGTCTAGGATGTTCTTCTCCCAGATTTTCCTGGGACTTTCATGTCACTCAAATCTCTGCTCAAATTTTTGCTCTTCAGAGAGGCCTTAAAATAGTACTACTCCATCAACCTTAATTCTCCTTCCCTGCTTCATTTTTTATGACATCTTCACTATCTGAAATTATATACTTATTTATCATCTTCCTATTTCTTCTAGAACTTTAGATCCTGGACAACACATCTGTATTCCAGCCCTAAGAGCACTTCCTGGCATGTTGTAAATGCCAGATAAATAAATTTAGATGGATGGATAGATGGATGGATGGATGGACTGATGTGTGGATGAGTATACAAAGGGATGAAATACAGAGATGGGTGGATGAATGGATGGATTTGTAGATAGACTGATCAACAAATTGATGGATGGTTGGGTGAATTAAGGTATAGATAAATGGACATGCAGATGGATGAATATTTGGATGGATGAAGTAGATGAATGGATGGAGGATGCATAGATGGATGGATGGGTGGTTGAATAGATGGAGTGGATGGAAGAATGGATGGATAGTTAAATGGATGATTGAACAGATGGTGTAGATGGATGGTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGAGTGGATGGATAGATGGATAGATGGATCAGTGAATGGTTGAATGGGTGGTTGAACAGATGGAGTAGATGGATGGAGGATGAATGGATGGATGGTTGAATTGATGGAGTGGATGGATGGACAGATGGAAGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGAATTGATGGAGTGGATGGATGGACGGATGGATGGATGGATGGATGGATGGATGGTTTGAATGGATGGTTGAATAGATGGAGTAGATGGATGGATAAATGAAGGTGTTGACAGATGGAGGGAAGGTTGAATGGATGGATGGTATGACAAGGAACCATTCTAACTCTGTCCCTCTCACTTTTGTTTTTTAGGCCACTCCCCACCTGTCCTGCCTTTGTGTGCCTCTGTGTCTTTGCTGGGTGGCCTGACCTTTGGTTATGAACTGGCAGTCATATCAGGTGCCCTGCTGCCACTGCAGCTTGACTTTGGGCTAAGCTGCTTGGAGCAGGAGTTCCTGGTGGGCAGCCTGCTCCTGGGGGCTCTCCTCGCCTCCCTGGTTGGTGGCTTCCTCATTGACTGCTATGGCAGGAAGCAAGCCATCCTCGGGAGCAACTTGGTGCTGCTGGCAGGCAGCCTGACCCTGGGCCTGGCTGGTTCCCTGGCCTGGCTGGTCCTGGGCCGCGCTGTGGTTGGCTTCGCCATTTCCCTCTCCTCCATGGCTTGCTGTATCTACGTGTCAGAGCTGGTGGGGCCACGGCAGCGGGGAGTGCTGGTGTCCCTCTATGAGGCAGGCATCACCGTGGGCATCCTGCTCTCCTATGCCCTCAACTATGCACTGGCTGGTACCCCCTGGGGATGGAGGCACATGTTCGGCTGGGCCACTGCACCTGCTGTCCTGCAATCCCTCAGCCTCCTCTTCCTCCCTGCTGGTACAGATGAGACTGCAACACACAAGGACCTCATCCCACTCCAGGGAGGTGAGGCCCCCAAGCTGGGCCCGGGGAGGCCACGGTACTCCTTTCTGGACCTCTTCAGGGCACGCGATAACATGCGAGGCCGGACCACAGTGGGCCTGGGGCTGGTGCTCTTCCAGCAACAGGGCAGCCCAACGTGCTGTGCTATGCCTCCACCATCTTCAGCTCCGTTGGTTTCCATGGGGGATCCTCAGCCGTGCTGGCCTCTGTGGGGCTTGGCGCAGTGAAGGTGGCAGCTACCCTGACCGCCATGGGGCTGGTGGACCGTGCAGGCCGCAGGGCTCTGTTGCTAGCTGGCTGTGCCCTCATGGCCCTGTCCGTCAGTGGCATAGGCCTCGTCAGCTTTGCCGTGCCCATGGACTCAGGCCCAAGCTGTCTGGCTGTGCCCAATGCCACCGGGCAGACAGGCCTCCCTGGAGACTCTGGCCTGCTGCAGGACTCCTCTCTACCTCCCATTCCAAGGACCAATGAGGACCAAAGGGAGCCAATCTTGTCCACTGCTAAGAAAACCAAGCCCCATCCCAGATCTGGAGACCCCTCAGCCCCTCCTCGGCTGGCCCTGAGCTCTGCCCTCCCTGGGCCCCCTCTGCCCGCTCGGGGGCATGCACTGCTGCGCTGGACCGCACTGCTGTGCCTGATGGTCTTTGTCAGTGCCTTCTCCTTTGGGTTTGGGCCAGGTAAGTGGAGTTTTCTTGCAGGTGACTCTGGAGACTTCTACCCCTCCTAGGGGGAAGTTTGGGGACTTCCCACCCTGATGACCTGGCAGGGTGTCAGTGGGGCACTAGAGGTGGGTTGACCATGAAGCCTCAGGGCCCCTCACTTACCTGCAGTTGCTCCTCCCAGGGCCAGTGCCTAATTTTATGTTTGTAATTTGTATTCCTTAAAAGCCTCCCCAAGTCATTTGAGCTTCAGGTCCCTTAAAGCCCGGATAGCTCACAACTGGAAGGAATTTAATGAATAGCGTGAAAACCAATCATCCCAGTTCGTCCAAGACTGTTCCCATCTCGGCATTGAAAGTCTCATGTCTCAGAAAACCTCTCAGTCTTCAGCAAACTGAGACTCTACTGTAATTCTTATAGCAGAATGGGAGTGGGAGTTTAGTATCAGGAGCCTGACACTAGAAAATCCCATTGTTGAGAGGCTGCATGTTTGACCTGATGGTGCCAGGCCCCAGGTCCCACCACAGCCCAGGAGCCCTCCTGCTCTCCCACCCTAGTGACCTGGCTTGTCCTCAGCGAGATCTACCCTGTGGAGATACGAGGAAGAGCCTTCGCCTTCTGCAACAGCTTCAACTGGGCGGCCAACCTCTTCATCAGCCTCTCCTTCCTCGATCTCATTGGTGAGTCCTTCCCAGACAAGTCCGTTTTTTTTCTGTGGCCCAAGCTCCCTACTCTAAAGCAGAAATTTTTGGATTTTCCTATGTATTAGCTGCAGAACTATTATTCTGTGCAGAAACATCATCAAATGTCCAAGACGACATCCAGGACCCTCATATGCACTGTAAAACTCCCCAGGCCAGCTAATGGGTGATGGTCTACACCCAGTACTGGTGAGAGGTCATCTGAGGTCAACCGGCAGGAGTAAGAGTAGCAATGTTTATTTGCTCCAAACTGGCTTAAACTGGTTCATGACACCTGCCAGGTGGAAGTTTTTCTTGGCTTTTCTTTTCTTTTTAATTTTTAATTTTTTTTGAGATGGAATCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAACTATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCAGGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGTAATCCCAAAGTGCTGGGATTACGGGCATGAGCCACCGTGTCTGGCCTGGAAGTTTTTCTCAAATCAAGTTTGGGTGACATCATCTCTTCCTCCCTAGCATTGAAACCCATTCTGAGGTGTGGTGGGATGGGGTGGAAATGATGTGGGCCCAGAACACCAGGGAATGACTCTGAGATGCTGAGATGCTCATGGCTCCAGGCCCTGGTCTTCAGTGGGTATTGCTCATCTGGGCCAGAGTACANNNN
pathogenic
314,359
Does the chromosome 20 mutation at position 46726907 within gene SLC2A10 (solute carrier family 2 member 10) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Arterial_tortuosity_syndrome', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'SLC2A10-related_disorder']
GGAGTGGATGGATGGACGGATGGATGGATGGATGGATGGATGGATGGTTTGAATGGATGGTTGAATAGATGGAGTAGATGGATGGATAAATGAAGGTGTTGACAGATGGAGGGAAGGTTGAATGGATGGATGGTATGACAAGGAACCATTCTAACTCTGTCCCTCTCACTTTTGTTTTTTAGGCCACTCCCCACCTGTCCTGCCTTTGTGTGCCTCTGTGTCTTTGCTGGGTGGCCTGACCTTTGGTTATGAACTGGCAGTCATATCAGGTGCCCTGCTGCCACTGCAGCTTGACTTTGGGCTAAGCTGCTTGGAGCAGGAGTTCCTGGTGGGCAGCCTGCTCCTGGGGGCTCTCCTCGCCTCCCTGGTTGGTGGCTTCCTCATTGACTGCTATGGCAGGAAGCAAGCCATCCTCGGGAGCAACTTGGTGCTGCTGGCAGGCAGCCTGACCCTGGGCCTGGCTGGTTCCCTGGCCTGGCTGGTCCTGGGCCGCGCTGTGGTTGGCTTCGCCATTTCCCTCTCCTCCATGGCTTGCTGTATCTACGTGTCAGAGCTGGTGGGGCCACGGCAGCGGGGAGTGCTGGTGTCCCTCTATGAGGCAGGCATCACCGTGGGCATCCTGCTCTCCTATGCCCTCAACTATGCACTGGCTGGTACCCCCTGGGGATGGAGGCACATGTTCGGCTGGGCCACTGCACCTGCTGTCCTGCAATCCCTCAGCCTCCTCTTCCTCCCTGCTGGTACAGATGAGACTGCAACACACAAGGACCTCATCCCACTCCAGGGAGGTGAGGCCCCCAAGCTGGGCCCGGGGAGGCCACGGTACTCCTTTCTGGACCTCTTCAGGGCACGCGATAACATGCGAGGCCGGACCACAGTGGGCCTGGGGCTGGTGCTCTTCCAGCAACTAACAGGGCAGCCCAACGTGCTGTGCTATGCCTCCACCATCTTCAGCTCCGTTGGTTTCCATGGGGGATCCTCAGCCGTGCTGGCCTCTGTGGGGCTTGGCGCAGTGAAGGTGGCAGCTACCCTGACCGCCATGGGGCTGGTGGACCGTGCAGGCCGCAGGGCTCTGTTGCTAGCTGGCTGTGCCCTCATGGCCCTGTCCGTCAGTGGCATAGGCCTCGTCAGCTTTGCCGTGCCCATGGACTCAGGCCCAAGCTGTCTGGCTGTGCCCAATGCCACCGGGCAGACAGGCCTCCCTGGAGACTCTGGCCTGCTGCAGGACTCCTCTCTACCTCCCATTCCAAGGACCAATGAGGACCAAAGGGAGCCAATCTTGTCCACTGCTAAGAAAACCAAGCCCCATCCCAGATCTGGAGACCCCTCAGCCCCTCCTCGGCTGGCCCTGAGCTCTGCCCTCCCTGGGCCCCCTCTGCCCGCTCGGGGGCATGCACTGCTGCGCTGGACCGCACTGCTGTGCCTGATGGTCTTTGTCAGTGCCTTCTCCTTTGGGTTTGGGCCAGGTAAGTGGAGTTTTCTTGCAGGTGACTCTGGAGACTTCTACCCCTCCTAGGGGGAAGTTTGGGGACTTCCCACCCTGATGACCTGGCAGGGTGTCAGTGGGGCACTAGAGGTGGGTTGACCATGAAGCCTCAGGGCCCCTCACTTACCTGCAGTTGCTCCTCCCAGGGCCAGTGCCTAATTTTATGTTTGTAATTTGTATTCCTTAAAAGCCTCCCCAAGTCATTTGAGCTTCAGGTCCCTTAAAGCCCGGATAGCTCACAACTGGAAGGAATTTAATGAATAGCGTGAAAACCAATCATCCCAGTTCGTCCAAGACTGTTCCCATCTCGGCATTGAAAGTCTCATGTCTCAGAAAACCTCTCAGTCTTCAGCAAACTGAGACTCTACTGTAATTCTTATAGCAGAATGGGAGTGGGAGTTTAGTATCAGGAGCCTGACACTAGAAAATCCCATTGTTGAGAGGCTGCATGTTTGACCTGATGGTGCCAGGCCCCAGGTCCCACCACAGCCCAGGAGCCCTCCTGCTCTCCCACCCTAGTGACCTGGCTTGTCCTCAGCGAGATCTACCCTGTGGAGATACGAGGAAGAGCCTTCGCCTTCTGCAACAGCTTCAACTGGGCGGCCAACCTCTTCATCAGCCTCTCCTTCCTCGATCTCATTGGTGAGTCCTTCCCAGACAAGTCCGTTTTTTTTCTGTGGCCCAAGCTCCCTACTCTAAAGCAGAAATTTTTGGATTTTCCTATGTATTAGCTGCAGAACTATTATTCTGTGCAGAAACATCATCAAATGTCCAAGACGACATCCAGGACCCTCATATGCACTGTAAAACTCCCCAGGCCAGCTAATGGGTGATGGTCTACACCCAGTACTGGTGAGAGGTCATCTGAGGTCAACCGGCAGGAGTAAGAGTAGCAATGTTTATTTGCTCCAAACTGGCTTAAACTGGTTCATGACACCTGCCAGGTGGAAGTTTTTCTTGGCTTTTCTTTTCTTTTTAATTTTTAATTTTTTTTGAGATGGAATCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAACTATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCAGGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGTAATCCCAAAGTGCTGGGATTACGGGCATGAGCCACCGTGTCTGGCCTGGAAGTTTTTCTCAAATCAAGTTTGGGTGACATCATCTCTTCCTCCCTAGCATTGAAACCCATTCTGAGGTGTGGTGGGATGGGGTGGAAATGATGTGGGCCCAGAACACCAGGGAATGACTCTGAGATGCTGAGATGCTCATGGCTCCAGGCCCTGGTCTTCAGTGGGTATTGCTCATCTGGGCCAGAGTACACAGGCTCCTTCACTGTGGTCCCCAAGGCACAGTTCTTAGGGTTCAGTTATTTTCCTATTCCCTATGGCCAAGAGTTTCCTTCCCAAAGGTGCAGCCAACTTGGGAGGCTGGGGGGCAGTGCTGTGGGAAACCCCAGTGGAAGAACCCCCCCTATCATGGCTGTCTTCCAACCCCAGTCTTAGGGAATCCAAGCTTCTCCCTGCAGCCTCAGTCTTCAAGCATTTCCCTTTGTGTGGAGTAAATGAGTGAGAGAGGAGAAAGAAGGAGAGAAACAAGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGAATTTATTAGAATTGTGTCATATATCATCCCCATTTCACAGATGGGAAAATACATCCTTACCCCGTCCAGCCAGGGAGTCAAAAGACTAGAACCAGCCCCACTGCCTTCCAGCCCATTGCTCTCCCTGCTGGCGATAGGTCCAGCTGGTCATGGGAGGCTGCCTAAAGGAGGTATGGACGTGGCTGTCAGAGGTGAGAATGGCTTCCAAAACATAATTTGTCTTCCACCTTGACAAAGATCCTTCCTCCACAGCCTCTTCTCTGTCTTGGGATGAATGACATCAAATGACTCAGGGTCATTCCCATCTTGGCTGCTGGTTCTGAGACCCACCGGAGGCTCTAGGAGGAGGCTGACTCTGGGACTGAACTGTGGCTTTTGTCCTCTCTCCCAAACCAGTCACAGGTCAAACTGGCTGAAACTCAATTCTCTGAATGATCAATTCACTGAATGACCGATTCATGGAATTTCTGGGTGTGTTTTTTTTTTTTTTTTTTTTTTTTGAAACAGGGTCTCACTCTGTCGCCCTGAGTGCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAGCCTTGACCTCCGGGGCTCAAACAATCCTCCAGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTTTATTTTTTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAACCACTGCACCAAGCCCAATTCATGAAATTTCTAAGGATTTTTTTT
GGAGTGGATGGATGGACGGATGGATGGATGGATGGATGGATGGATGGTTTGAATGGATGGTTGAATAGATGGAGTAGATGGATGGATAAATGAAGGTGTTGACAGATGGAGGGAAGGTTGAATGGATGGATGGTATGACAAGGAACCATTCTAACTCTGTCCCTCTCACTTTTGTTTTTTAGGCCACTCCCCACCTGTCCTGCCTTTGTGTGCCTCTGTGTCTTTGCTGGGTGGCCTGACCTTTGGTTATGAACTGGCAGTCATATCAGGTGCCCTGCTGCCACTGCAGCTTGACTTTGGGCTAAGCTGCTTGGAGCAGGAGTTCCTGGTGGGCAGCCTGCTCCTGGGGGCTCTCCTCGCCTCCCTGGTTGGTGGCTTCCTCATTGACTGCTATGGCAGGAAGCAAGCCATCCTCGGGAGCAACTTGGTGCTGCTGGCAGGCAGCCTGACCCTGGGCCTGGCTGGTTCCCTGGCCTGGCTGGTCCTGGGCCGCGCTGTGGTTGGCTTCGCCATTTCCCTCTCCTCCATGGCTTGCTGTATCTACGTGTCAGAGCTGGTGGGGCCACGGCAGCGGGGAGTGCTGGTGTCCCTCTATGAGGCAGGCATCACCGTGGGCATCCTGCTCTCCTATGCCCTCAACTATGCACTGGCTGGTACCCCCTGGGGATGGAGGCACATGTTCGGCTGGGCCACTGCACCTGCTGTCCTGCAATCCCTCAGCCTCCTCTTCCTCCCTGCTGGTACAGATGAGACTGCAACACACAAGGACCTCATCCCACTCCAGGGAGGTGAGGCCCCCAAGCTGGGCCCGGGGAGGCCACGGTACTCCTTTCTGGACCTCTTCAGGGCACGCGATAACATGCGAGGCCGGACCACAGTGGGCCTGGGGCTGGTGCTCTTCCAGCAACTAACAGGGCAGCCCAACGTGCTGTGCTATGCCTCCACCATCTTCAGCTCCGTTGGTTTCCATGGGGGATCCTCAGCCGTGCTGGCCTCTGTGGGGCTTGGCGCAGTGAAGGTGGCAGCTACCCTGACCGCCATGGGGCTGGTGGACCGTGCAGGCCGCAGGGCTCTGTTGCTAGCTGGCTGTGCCCTCATGGCCCTGTCCGTCAGTGGCATAGGCCTCGTCAGCTTTGCCGTGCCCATGGACTCAGGCCCAAGCTGTCTGGCTGTGCCCAATGCCACCGGGCAGACAGGCCTCCCTGGAGACTCTGGCCTGCTGCAGGACTCCTCTCTACCTCCCATTCCAAGGACCAATGAGGACCAAAGGGAGCCAATCTTGTCCACTGCTAAGAAAACCAAGCCCCATCCCAGATCTGGAGACCCCTCAGCCCCTCCTCGGCTGGCCCTGAGCTCTGCCCTCCCTGGGCCCCCTCTGCCCGCTCGGGGGCATGCACTGCTGCGCTGGACCGCACTGCTGTGCCTGATGGTCTTTGTCAGTGCCTTCTCCTTTGGGTTTGGGCCAGGTAAGTGGAGTTTTCTTGCAGGTGACTCTGGAGACTTCTACCCCTCCTAGGGGGAAGTTTGGGGACTTCCCACCCTGATGACCTGGCAGGGTGTCAGTGGGGCACTAGAGGTGGGTTGACCATGAAGCCTCAGGGCCCCTCACTTACCTGCAGTTGCTCCTCCCAGGGCCAGTGCCTAATTTTATGTTTGTAATTTGTATTCCTTAAAAGCCTCCCCAAGTCATTTGAGCTTCAGGTCCCTTAAAGCCCGGATAGCTCACAACTGGAAGGAATTTAATGAATAGCGTGAAAACCAATCATCCCAGTTCGTCCAAGACTGTTCCCATCTCGGCATTGAAAGTCTCATGTCTCAGAAAACCTCTCAGTCTTCAGCAAACTGAGACTCTACTGTAATTCTTATAGCAGAATGGGAGTGGGAGTTTAGTATCAGGAGCCTGACACTAGAAAATCCCATTGTTGAGAGGCTGCATGTTTGACCTGATGGTGCCAGGCCCCAGGTCCCACCACAGCCCAGGAGCCCTCCTGCTCTCCCACCCTAGTGACCTGGCTTGTCCTCAGCGAGATCTACCCTGTGGAGATACGAGAAGAGCCTTCGCCTTCTGCAACAGCTTCAACTGGGCGGCCAACCTCTTCATCAGCCTCTCCTTCCTCGATCTCATTGGTGAGTCCTTCCCAGACAAGTCCGTTTTTTTTCTGTGGCCCAAGCTCCCTACTCTAAAGCAGAAATTTTTGGATTTTCCTATGTATTAGCTGCAGAACTATTATTCTGTGCAGAAACATCATCAAATGTCCAAGACGACATCCAGGACCCTCATATGCACTGTAAAACTCCCCAGGCCAGCTAATGGGTGATGGTCTACACCCAGTACTGGTGAGAGGTCATCTGAGGTCAACCGGCAGGAGTAAGAGTAGCAATGTTTATTTGCTCCAAACTGGCTTAAACTGGTTCATGACACCTGCCAGGTGGAAGTTTTTCTTGGCTTTTCTTTTCTTTTTAATTTTTAATTTTTTTTGAGATGGAATCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAACTATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCAGGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGTAATCCCAAAGTGCTGGGATTACGGGCATGAGCCACCGTGTCTGGCCTGGAAGTTTTTCTCAAATCAAGTTTGGGTGACATCATCTCTTCCTCCCTAGCATTGAAACCCATTCTGAGGTGTGGTGGGATGGGGTGGAAATGATGTGGGCCCAGAACACCAGGGAATGACTCTGAGATGCTGAGATGCTCATGGCTCCAGGCCCTGGTCTTCAGTGGGTATTGCTCATCTGGGCCAGAGTACACAGGCTCCTTCACTGTGGTCCCCAAGGCACAGTTCTTAGGGTTCAGTTATTTTCCTATTCCCTATGGCCAAGAGTTTCCTTCCCAAAGGTGCAGCCAACTTGGGAGGCTGGGGGGCAGTGCTGTGGGAAACCCCAGTGGAAGAACCCCCCCTATCATGGCTGTCTTCCAACCCCAGTCTTAGGGAATCCAAGCTTCTCCCTGCAGCCTCAGTCTTCAAGCATTTCCCTTTGTGTGGAGTAAATGAGTGAGAGAGGAGAAAGAAGGAGAGAAACAAGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGAATTTATTAGAATTGTGTCATATATCATCCCCATTTCACAGATGGGAAAATACATCCTTACCCCGTCCAGCCAGGGAGTCAAAAGACTAGAACCAGCCCCACTGCCTTCCAGCCCATTGCTCTCCCTGCTGGCGATAGGTCCAGCTGGTCATGGGAGGCTGCCTAAAGGAGGTATGGACGTGGCTGTCAGAGGTGAGAATGGCTTCCAAAACATAATTTGTCTTCCACCTTGACAAAGATCCTTCCTCCACAGCCTCTTCTCTGTCTTGGGATGAATGACATCAAATGACTCAGGGTCATTCCCATCTTGGCTGCTGGTTCTGAGACCCACCGGAGGCTCTAGGAGGAGGCTGACTCTGGGACTGAACTGTGGCTTTTGTCCTCTCTCCCAAACCAGTCACAGGTCAAACTGGCTGAAACTCAATTCTCTGAATGATCAATTCACTGAATGACCGATTCATGGAATTTCTGGGTGTGTTTTTTTTTTTTTTTTTTTTTTTTGAAACAGGGTCTCACTCTGTCGCCCTGAGTGCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAGCCTTGACCTCCGGGGCTCAAACAATCCTCCAGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTTTATTTTTTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAACCACTGCACCAAGCCCAATTCATGAAATTTCTAAGGATTTTTTTTN
pathogenic
314,390
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 20, position 46729502, gene SLC2A10 (solute carrier family 2 member 10). What disease(s) is it linked to if pathogenic?
benign
GGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCAGGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGTAATCCCAAAGTGCTGGGATTACGGGCATGAGCCACCGTGTCTGGCCTGGAAGTTTTTCTCAAATCAAGTTTGGGTGACATCATCTCTTCCTCCCTAGCATTGAAACCCATTCTGAGGTGTGGTGGGATGGGGTGGAAATGATGTGGGCCCAGAACACCAGGGAATGACTCTGAGATGCTGAGATGCTCATGGCTCCAGGCCCTGGTCTTCAGTGGGTATTGCTCATCTGGGCCAGAGTACACAGGCTCCTTCACTGTGGTCCCCAAGGCACAGTTCTTAGGGTTCAGTTATTTTCCTATTCCCTATGGCCAAGAGTTTCCTTCCCAAAGGTGCAGCCAACTTGGGAGGCTGGGGGGCAGTGCTGTGGGAAACCCCAGTGGAAGAACCCCCCCTATCATGGCTGTCTTCCAACCCCAGTCTTAGGGAATCCAAGCTTCTCCCTGCAGCCTCAGTCTTCAAGCATTTCCCTTTGTGTGGAGTAAATGAGTGAGAGAGGAGAAAGAAGGAGAGAAACAAGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGAATTTATTAGAATTGTGTCATATATCATCCCCATTTCACAGATGGGAAAATACATCCTTACCCCGTCCAGCCAGGGAGTCAAAAGACTAGAACCAGCCCCACTGCCTTCCAGCCCATTGCTCTCCCTGCTGGCGATAGGTCCAGCTGGTCATGGGAGGCTGCCTAAAGGAGGTATGGACGTGGCTGTCAGAGGTGAGAATGGCTTCCAAAACATAATTTGTCTTCCACCTTGACAAAGATCCTTCCTCCACAGCCTCTTCTCTGTCTTGGGATGAATGACATCAAATGACTCAGGGTCATTCCCATCTTGGCTGCTGGTTCTGAGACCCACCGGAGGCTCTAGGAGGAGGCTGACTCTGGGACTGAACTGTGGCTTTTGTCCTCTCTCCCAAACCAGTCACAGGTCAAACTGGCTGAAACTCAATTCTCTGAATGATCAATTCACTGAATGACCGATTCATGGAATTTCTGGGTGTGTTTTTTTTTTTTTTTTTTTTTTTTGAAACAGGGTCTCACTCTGTCGCCCTGAGTGCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAGCCTTGACCTCCGGGGCTCAAACAATCCTCCAGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTTTATTTTTTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAACCACTGCACCAAGCCCAATTCATGAAATTTCTAAGGATTTTTTTTTTTTCAAACTGAGATTTGCCAAGGCCGTGTCCATGCAGCTGTTTGGCCACTCAGCTGGATCCACGATCCCTCAGGCCAGGCTTTCGGAGCCCAAGCGTGCTCCACGGGATAGTGCTCTAGATGTGGGTGAGGGGCCTTTCCCATAAACACAAGTTGCCTTTGTCTCTGTGCTTGTGGACTTGCGTCCTGGCTCATCCCCGCCTTTGAGACAATCAGCGAGATTTCCGCTTTAAGGTACTTCACTGACAGCTTATTGGTCACTCTGCAAATTGACCAACGGGAACATTTGCTTTGAGTGAACTGACTTTCCATGCCTGACCTAGAACCTACCAGTTGGCCCAGGCTGCGGGGCCAGAGTGCTTGGTCCTGGGCCTACACTCCCGCCCTCCTGTTTCCAGGCACCATCGGCTTGTCCTGGACCTTCCTGCTCTACGGACTGACCGCTGTCCTCGGCCTGGGCTTCATCTATTTATTTGTTCCTGAAACAAAAGGCCAGTCGTTGGCAGAGATAGACCAGCAGTTCCAGAAGAGACGGTAGGAAGCTGACAGGGTGGGTCTGGGGGAAGAGCTGTAGCACACCCCAAGCACACAGCTTCAGGATTTTAGTCTTTGTGCTTTCCTTTTGCAAGCGGGCATTCCTCCTGTCTTCCTTATTGCCTGGGCACTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAAGCGTGAGCCACCGCGCCCGGCCGGCACTATGAGTTTTGTCCGGTCACACACAAACTGTTTTCCTTGAGTTGTTTTGTGTCTCCCTACAGTGCCTTTTCATTTGACTTTAAGACCCAGCTCATGGGGATTTAAAAATCATTTGATTATGGAATCACAGGAGGCTAGAAGAGTAGAATCTTAAAACCATAAACTATCTTAGAGTCACAGGACCTTGGAGTAGCAAAATATCATAACTATGGCCTTTAAACATTGCACGCAAAACGCTTGTGGGCTTCATGCATTCATTCCGTGGCTATTTATTAAGTCCTTACTCTGTGCCAGACAGTGTTCAGAGCCTTAGGAAACATGCTGAGATTAAGGAAGACAAAGTGCCTGTCCTCAAGAGCTTCCATTTGATGGGGGAGGGAAGCCAACAAATGCATAAACAAGAGCGTTTTAGTTGGTGATGAGTAATTAGGAGAAAATGAAGCAGAGCAAAATATGTTGAGAGGGCCAGGTTGACACAGGAGGAACAAAGAAGAAAGGGGTTGTGGCTGAAGTAGAGTGGGTGGTGAGGGAGGGAAGTCGTCTCAGAGGAGGTGGAATTTAAGTTAGTGAGAAGGAGGCACCCACGTAATGATGAGGGGAGGAGCATTCTAAGCAGAAGGAACAGCAAGTGCAAAGGCCCTGAGGTGGGCATGTATCTGGCATGTGCAAGGAACAACAAGGAAGCCAGTGTGCCTGGAACAGAGGGAGGAAGGGAAGAGCGTGGAGGGTCAGACAGGCCAGATGGGTAGGATCACATCAGGTCTTCAGGTTATTGAGGGGAGTTCAGAATCTTAGCATCATGAGACCTTAGGCTGTTCAAATAAAAGAAGAGTGAAATGGGAGCTTCAGAAGGAACTTCAAAGTGCTACAGTCCTAAGCATCCTTGGCAAATATCCCCAGTTACCTCTTAAAAGCAGGTGATAGTCACCAGCTCCTGACTGCCCATTCTGTTTCTGGGAAGTCATAAAACGTTTTAAAAAATCATTCTATTATTGACTAGCATCCCTGCACTGGCTGCTAAGCCCCACCCCAATCTGGATCCTAATGTAAGAACCTGTGACCCAGTCCTCCCCACCCCAGAATGTTCTCTCCTACTTTGTTGAGTGGAACCTTCTGCAGTTTCGGCAGGCGCCTCAGCAACCCAGCTGTATTAGTTAGGAAATCGATTTGGCTGCTTGAAGTCGTCCAAATGTCGGTTGGGGGTCCAGGGTTGGGTGGATGCAGCATGCCATGAGCTCATGTAGGGTCCCAGGCTCCTTCTGTCTTGTTGCTCTGCCACCTCTTCCATATCACCTTTCCTGCATGGCCTAAGGAGGTGCACCCCCACATACCTGCCAGAGGATGGGGGAGGGGAAGGGGTGGGCACAGTCCTCAAGGTCACTTCCACCCACATGACTTTCCATAGAACTTGGCTACACCTATATGCAGGGGAGGCCAAGAAATGTGGTCTTCAATCTGGGCAGCCATGTGCCCAGCTAAAAATCGAGGGTTCTGTTACTAGACAGCTGCCTGGCATCTCTGCCACACTGGTTTTCTTGGGAGAAGATTCCAAATCCATCCTCTGGGATAAAAAGCAACGGAGGCAGAAACGCTGGTGGGAGCCAGCTTTGGGGTA
GGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCAGGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGTAATCCCAAAGTGCTGGGATTACGGGCATGAGCCACCGTGTCTGGCCTGGAAGTTTTTCTCAAATCAAGTTTGGGTGACATCATCTCTTCCTCCCTAGCATTGAAACCCATTCTGAGGTGTGGTGGGATGGGGTGGAAATGATGTGGGCCCAGAACACCAGGGAATGACTCTGAGATGCTGAGATGCTCATGGCTCCAGGCCCTGGTCTTCAGTGGGTATTGCTCATCTGGGCCAGAGTACACAGGCTCCTTCACTGTGGTCCCCAAGGCACAGTTCTTAGGGTTCAGTTATTTTCCTATTCCCTATGGCCAAGAGTTTCCTTCCCAAAGGTGCAGCCAACTTGGGAGGCTGGGGGGCAGTGCTGTGGGAAACCCCAGTGGAAGAACCCCCCCTATCATGGCTGTCTTCCAACCCCAGTCTTAGGGAATCCAAGCTTCTCCCTGCAGCCTCAGTCTTCAAGCATTTCCCTTTGTGTGGAGTAAATGAGTGAGAGAGGAGAAAGAAGGAGAGAAACAAGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGAATTTATTAGAATTGTGTCATATATCATCCCCATTTCACAGATGGGAAAATACATCCTTACCCCGTCCAGCCAGGGAGTCAAAAGACTAGAACCAGCCCCACTGCCTTCCAGCCCATTGCTCTCCCTGCTGGCGATAGGTCCAGCTGGTCATGGGAGGCTGCCTAAAGGAGGTATGGACGTGGCTGTCAGAGGTGAGAATGGCTTCCAAAACATAATTTGTCTTCCACCTTGACAAAGATCCTTCCTCCACAGCCTCTTCTCTGTCTTGGGATGAATGACATCAAATGACTCAGGGTCATTCCCATCTTGGCTGCTGGTTCTGAGACCCACCGGAGGCTCTAGGAGGAGGCTGACTCTGGGACTGAACTGTGGCTTTTGTCCTCTCTCCCAAACCAGTCACAGGTCAAACTGGCTGAAACTCAATTCTCTGAATGATCAATTCACTGAATGACCGATTCATGGAATTTCTGGGTGTGTTTTTTTTTTTTTTTTTTTTTTTTGAAACAGGGTCTCACTCTGTCGCCCTGAGTGCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAGCCTTGACCTCCGGGGCTCAAACAATCCTCCAGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTTTATTTTTTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAACCACTGCACCAAGCCCAATTCATGAAATTTCTAAGGATTTTTTTTTTTTCAAACTGAGATTTGCCAAGGCCGTGTCCATGCAGCTGTTTGGCCACTCAGCTGGATCCACGATCCCTCAGGCCAGGCTTTCGGAGCCCAAGCGTGCTCCACGGGATAGTGCTCTAGATGTGGGTGAGGGGCCTTTCCCATAAACACAAGTTGCCTTTGTCTCTGTGCTTGTGGACTTGCGTCCTGGCTCATCCCCGCCTTTGAGACAATCAGCGAGATTTCCGCTTTAAGGTACTTCACTGACAGCTTATTGGTCACTCTGCAAATTGACCAACGGGAACATTTGCTTTGAGTGAACTGACTTTCCATGCCTGACCTAGAACCTACCAGTTGGCCCAGGCTGCGGGGCCAGAGTGCTTGGTCCTGGGCCTACACTCCCGCCCTCCTGTTTCCAGGCACCATCGGCTTGTCCTGGACCTTCCTGCTCTACGGACTGACCGCTGTCCTCGGCCTGGGCTTCATCTATTTATTTGTTCCTGAAACAAAAGGCCAGTCGTTGGCAGAGATAGACCAGCAGTTCCAGAAGAGACGGTAGGAAGCTGACAGGGGTGGGTCTGGGGGAAGAGCTGTAGCACACCCCAAGCACACAGCTTCAGGATTTTAGTCTTTGTGCTTTCCTTTTGCAAGCGGGCATTCCTCCTGTCTTCCTTATTGCCTGGGCACTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAAGCGTGAGCCACCGCGCCCGGCCGGCACTATGAGTTTTGTCCGGTCACACACAAACTGTTTTCCTTGAGTTGTTTTGTGTCTCCCTACAGTGCCTTTTCATTTGACTTTAAGACCCAGCTCATGGGGATTTAAAAATCATTTGATTATGGAATCACAGGAGGCTAGAAGAGTAGAATCTTAAAACCATAAACTATCTTAGAGTCACAGGACCTTGGAGTAGCAAAATATCATAACTATGGCCTTTAAACATTGCACGCAAAACGCTTGTGGGCTTCATGCATTCATTCCGTGGCTATTTATTAAGTCCTTACTCTGTGCCAGACAGTGTTCAGAGCCTTAGGAAACATGCTGAGATTAAGGAAGACAAAGTGCCTGTCCTCAAGAGCTTCCATTTGATGGGGGAGGGAAGCCAACAAATGCATAAACAAGAGCGTTTTAGTTGGTGATGAGTAATTAGGAGAAAATGAAGCAGAGCAAAATATGTTGAGAGGGCCAGGTTGACACAGGAGGAACAAAGAAGAAAGGGGTTGTGGCTGAAGTAGAGTGGGTGGTGAGGGAGGGAAGTCGTCTCAGAGGAGGTGGAATTTAAGTTAGTGAGAAGGAGGCACCCACGTAATGATGAGGGGAGGAGCATTCTAAGCAGAAGGAACAGCAAGTGCAAAGGCCCTGAGGTGGGCATGTATCTGGCATGTGCAAGGAACAACAAGGAAGCCAGTGTGCCTGGAACAGAGGGAGGAAGGGAAGAGCGTGGAGGGTCAGACAGGCCAGATGGGTAGGATCACATCAGGTCTTCAGGTTATTGAGGGGAGTTCAGAATCTTAGCATCATGAGACCTTAGGCTGTTCAAATAAAAGAAGAGTGAAATGGGAGCTTCAGAAGGAACTTCAAAGTGCTACAGTCCTAAGCATCCTTGGCAAATATCCCCAGTTACCTCTTAAAAGCAGGTGATAGTCACCAGCTCCTGACTGCCCATTCTGTTTCTGGGAAGTCATAAAACGTTTTAAAAAATCATTCTATTATTGACTAGCATCCCTGCACTGGCTGCTAAGCCCCACCCCAATCTGGATCCTAATGTAAGAACCTGTGACCCAGTCCTCCCCACCCCAGAATGTTCTCTCCTACTTTGTTGAGTGGAACCTTCTGCAGTTTCGGCAGGCGCCTCAGCAACCCAGCTGTATTAGTTAGGAAATCGATTTGGCTGCTTGAAGTCGTCCAAATGTCGGTTGGGGGTCCAGGGTTGGGTGGATGCAGCATGCCATGAGCTCATGTAGGGTCCCAGGCTCCTTCTGTCTTGTTGCTCTGCCACCTCTTCCATATCACCTTTCCTGCATGGCCTAAGGAGGTGCACCCCCACATACCTGCCAGAGGATGGGGGAGGGGAAGGGGTGGGCACAGTCCTCAAGGTCACTTCCACCCACATGACTTTCCATAGAACTTGGCTACACCTATATGCAGGGGAGGCCAAGAAATGTGGTCTTCAATCTGGGCAGCCATGTGCCCAGCTAAAAATCGAGGGTTCTGTTACTAGACAGCTGCCTGGCATCTCTGCCACACTGGTTTTCTTGGGAGAAGATTCCAAATCCATCCTCTGGGATAAAAAGCAACGGAGGCAGAAACGCTGGTGGGAGCCAGCTTTGGGGT
benign
314,410
Is the variant located on chromosome 20 at position 49374471, gene KCNB1 (potassium voltage-gated channel subfamily B member 1), benign or pathogenic? If pathogenic, specify the disease(s) linked.
pathogenic; ['Developmental_and_epileptic_encephalopathy,_26']
GGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCCACTCATGTCATCTCCCAAAGAGGGCTATAGAGTTGTTACAAGGAGGTGCTGTGCCCTATGGCTTGGCCAACTTCATGCTGATGGACCTGTCATGGCTCTCAAGGTCTTAGGGAGCCTTCTCTGGAGTCTCTCTTCTCTCTGAGGGCTTTACAGGGCCTTTCTGTTCCAGAGTTCATGCAGAAAAGCTCTGTGGCAGGTAAGCTGAACAGCTCTCCTCTTTGGACCTCACCCAAAAGTCTCTCCTCCAAGGCAGGGCAGTTCAGATGCTCTGATCTCGTGTGCTTCCATGGGCTCCTCCCCCTGGCAACACACGGACGTCAGGGGAGATGTGGTTCTCAAGTTTGCACTTTTCCTGACCACTGGGGCCTTTTCCAGTCAATGCTTCTGTGGAGTAAATACAGTTCTGCCTTAAGAACTTAGGGGAGGTGGGTAAAGGGGAGCTTTCAAAGTGGTTTTTCTCCGATCTTGTCCCCGTGCTGAACTTCGGACTGGTGCTCCCAGGGAGGCTTTTGGGGGGGCTGGAGTCCACACTGTAGAGCAGCTGTCCCTCATCATCTGTGTCTGCGTCAATGTACTGGTGGACACCCGCCTCAAAGTTGAACGCTATTGCTGTGTGTTTCTCAGGAGACCGGGGGGGTGTCTTAGCACTTGCTGTGGTGTAGATGGAGGACTCTGGGCTCAGCACAGCCTTGTCCAAAAGCGTGGCACACTCCAGTCCAGCGACAGCAGCCGCAGCACTCCCCCGGTTCCTGAGAGGGTCATGGTACATCCCTAGAACGGGGAGGAGTGGACTGGGGTCACCCTCCATGAAGTTGACTTTAAGTGCTCGGAGCTTCAAAGGGTTGTTAGTTTTCATGGAACTCTTGGGGCTCTCGATGAAGAAACTAGAGTGCTGGCTGGCATCAGGGCTGGGGTTGGCCTCCACAAACCTACCACCACTGGCACCCAGAGCTCCCCGCCAGCCCACTTCTGGGGCTGTGCTGCCCCCAGTCTTGCTGGGGAGTGATGTCAAAGGGCTGTGGGAGAATCTGGTGGCCTCAGGGAAGTCTGTGGCACAGCTAATGAAACTATCAATGCTTGACATACTTCGCATGTCAATGACCCCTTCTGTGCGAGTGGGCAGAGGGGCTACGGGGCTGGGGATACTCTCCATTTCAAGTTCTTCCTTTGGTTTGCTCTGTGCTGCTGACTCCTTGGTATTGAGGATGGGTTGGGATTGGGTCTTGGCCATCTTATTGTACATGTCTTCCAACTGCTGAACGTTCAGGTGCTGAGGACTAGAAGACGATCTGGCTTTTTCAGGGGATCCCTGTTCCTTGGTTTCAAAGGACTTACTTGAGCTGGTTTCAGACAGTGTCCTCTTTGTCCATTTCCATTTGTTAGGAGACAAGTGGTTATCTTGTACTTTGTCTTTCTTACCCATATTCTCCCCATTTTTCTCAACCACAATGTCCATCATCTCAATGCTCCGGGCAAAAGCATCCTTCATGTTCATGGATACGATGCTGCCATTCCTCTTGGCTCTCTCCAGAGCCTCTCGCCGTTTGATTGCTTTCTCCTGTCTCTTCTGCTCCTTATAGAACTCAGAGAAGTTATTGACGATGATGGGGATGGGAAGAGCAATCACCAGGACTCCTGCAATGCAGCAGAGTCCCCCAACAATTTTCCCCAGGAGAGTCTTGGGGTAGATGTCTCCATACCCAACAGTAGTCATGGTGATGGTGGCCCACCAGAAAGAGGCTGGGATGCTTTTGAACTTGGTGTCGTCCTCATCCTTCTCAGCAAAGAAGACAAGGCTGGAGAAGATCATAATGCCCATGGCAAGGAAGAGGATGAGCAAGCCCAACTCATTGTAGCTCCTCCGCAAAGTGAAGCCCAGAGACTGGAGGCCAGTGGAGTGGCGTGCAAGCTTAAGGATGCGGAGAATTCGCATGATGCGGAAGATCTGGACCACGCGGCGGACATTCTGGAATTGCAGCACGCTCTTGTTGGATTCGGTGAGGAAAATGGTGACATAGTATGGCAGAATGGCCAACAAGTCAATGGCATTGAGTGGGCCCTTGAAGAACTTCCACTTCTTGGGCGAGGAGAGGAACCTCAGCAGGTACTCCATGGTGAACCATGCGATGCACACGGCCTCCACGTGGGCCAGCTGGGGGTTGTCTGTGGACTGGCCGAACTCATCGAGGCTCTGTAGCTCAGGCAGCGTGTTGAGGGACAGGGCAATGGTGGAGAGGACGATGAACATGATGGAAATTATGGCAAGGATCTGTGAGGAGAAGAGAGTGGGATTTAGTTATCAACCACCCCACAGGATGATCATCATAATATCCTGGATCTACAGGGCACTCCTCAATGTTCAAGAGCATTTTCACATTTCACTAGTCATTTAATGAGCCAAAAAGAGAATTTGTTGTAATCCATTTATTGTCTAGATGTGGAAACCAAGGCCCAGAGAAATGAAATGTTTTAAAGCTATCAGCAAGCCCAGGGTTCAAGCATACTTTTTCAGATAGTAACCATTTTATAGGCCCTGAAACCCTGCATTGTCTGTCACAACGACTCGACTCTGCAGCTGTAGCATAAAACCAACCTTGGATAATACATACATGAATGGGCATAGCTGTGTTTCAATAAAACTTTATTTACAAAAATAGGCAGTGGACTGAATTTGGCCTGTGAACCATGATTTGCTGACTTCTGATCTAGACCAGTGGCTCACACTGGATGGGGAACTACCTTCACAGAGATGATACTAATGATAATAACTATCCTTGATTGAGTGTTCATTGTGTGCTAGGCACTTTCCATGAAATAGCTCATTTCATTCTTATAATAACCCCGTTCAGTGCTATTAGCTCCATTGAACAGATGCGGACACTTGGGTTTCCACAGCTAGTAAGTGGAAGAGCCAGCATTTTAACCCAGGTCTGTGTGACCCAAGAACATGAGCTCTTAAGGCTGTGTTAAAAATCAGATTTGGCTGGGTATGGTGCCTCATGTCTGTAATCCCAGCACTTTGGGAGACCTAGGCAGGAGGATCGTTTGAGGCCAGGAGTTCGAGTCTAGCCTGGGCAACATAGTGAGACTCTGTCTCTATAGAAGAACAAAGGGGAAAAAAATCAGATGAAAGCTAACCTTTTGCTAGAAAAATGCCTAGACACTCAAGATTTTGCAGGTAATTCCTAGGGAGGCACAGACATTCTGGGCCCATGTTAACTCCTGATTGGAACTATGTGCTTTTGGGGGCTAAAGACCTTGGCTTAACTACCTTTGAGTCCCCTGGATCAAGAAGAGAGCTTGGCCCAGAGAAAGGGCTCAATGGATATATGTTGAAATTAATGGAATCTAGGCCAGTAGGCCAGTCTACAGACTATGCAGAAAAGCAAACAGATGTAATCAATTGCTCTGAGGGTCTTTTTTTTTTTTTTCAAAAATACAAATCCAATCACATTACTCCTTTGTTTAATAAATCTCCAGGGCTCCTCATGAAAAAATCCAAACCCCTAAACCTGTCTATTGGGTCCCCTATACCTGTCTTGCTTTTGTAGATTTTCCCTTTCTCTTCCTCTGCCCCTGCTAAGTGGGAAGGGGGGGGCCTGGTCACCATGGTTGTATCATTTGATCCTGCCTGCCAATGATCAGAGCATGAAGTTTGGATAAAAAAATCCAAGTTAAGCCAATCCGTACACTGGGGCTTAGCCAGCCTACCTTTGAGAAATTTGAGTTCAGGAACCCAGGCGGTGAGTGGGTTACGGGAGGGTAAGTCCCTGAATTAAATGTTAAGTAGAATCT
GGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCCACTCATGTCATCTCCCAAAGAGGGCTATAGAGTTGTTACAAGGAGGTGCTGTGCCCTATGGCTTGGCCAACTTCATGCTGATGGACCTGTCATGGCTCTCAAGGTCTTAGGGAGCCTTCTCTGGAGTCTCTCTTCTCTCTGAGGGCTTTACAGGGCCTTTCTGTTCCAGAGTTCATGCAGAAAAGCTCTGTGGCAGGTAAGCTGAACAGCTCTCCTCTTTGGACCTCACCCAAAAGTCTCTCCTCCAAGGCAGGGCAGTTCAGATGCTCTGATCTCGTGTGCTTCCATGGGCTCCTCCCCCTGGCAACACACGGACGTCAGGGGAGATGTGGTTCTCAAGTTTGCACTTTTCCTGACCACTGGGGCCTTTTCCAGTCAATGCTTCTGTGGAGTAAATACAGTTCTGCCTTAAGAACTTAGGGGAGGTGGGTAAAGGGGAGCTTTCAAAGTGGTTTTTCTCCGATCTTGTCCCCGTGCTGAACTTCGGACTGGTGCTCCCAGGGAGGCTTTTGGGGGGGCTGGAGTCCACACTGTAGAGCAGCTGTCCCTCATCATCTGTGTCTGCGTCAATGTACTGGTGGACACCCGCCTCAAAGTTGAACGCTATTGCTGTGTGTTTCTCAGGAGACCGGGGGGGTGTCTTAGCACTTGCTGTGGTGTAGATGGAGGACTCTGGGCTCAGCACAGCCTTGTCCAAAAGCGTGGCACACTCCAGTCCAGCGACAGCAGCCGCAGCACTCCCCCGGTTCCTGAGAGGGTCATGGTACATCCCTAGAACGGGGAGGAGTGGACTGGGGTCACCCTCCATGAAGTTGACTTTAAGTGCTCGGAGCTTCAAAGGGTTGTTAGTTTTCATGGAACTCTTGGGGCTCTCGATGAAGAAACTAGAGTGCTGGCTGGCATCAGGGCTGGGGTTGGCCTCCACAAACCTACCACCACTGGCACCCAGAGCTCCCCGCCAGCCCACTTCTGGGGCTGTGCTGCCCCCAGTCTTGCTGGGGAGTGATGTCAAAGGGCTGTGGGAGAATCTGGTGGCCTCAGGGAAGTCTGTGGCACAGCTAATGAAACTATCAATGCTTGACATACTTCGCATGTCAATGACCCCTTCTGTGCGAGTGGGCAGAGGGGCTACGGGGCTGGGGATACTCTCCATTTCAAGTTCTTCCTTTGGTTTGCTCTGTGCTGCTGACTCCTTGGTATTGAGGATGGGTTGGGATTGGGTCTTGGCCATCTTATTGTACATGTCTTCCAACTGCTGAACGTTCAGGTGCTGAGGACTAGAAGACGATCTGGCTTTTTCAGGGGATCCCTGTTCCTTGGTTTCAAAGGACTTACTTGAGCTGGTTTCAGACAGTGTCCTCTTTGTCCATTTCCATTTGTTAGGAGACAAGTGGTTATCTTGTACTTTGTCTTTCTTACCCATATTCTCCCCATTTTTCTCAACCACAATGTCCATCATCTCAATGCTCCGGGCAAAAGCATCCTTCATGTTCATGGATACGATGCTGCCATTCCTCTTGGCTCTCTCCAGAGCCTCTCGCCGTTTGATTGCTTTCTCCTGTCTCTTCTGCTCCTTATAGAACTCAGAGAAGTTATTGACGATGATGGGGATGGGAAGAGCAATCACCAGGACTCCTGCAATGCAGCAGAGTCCCCCAACAATTTTCCCCAGGAGAGTCTTGGGGTAGATGTCTCCATACCCAACAGTAGTCATGGTGATGGTGGCCCACCAGAAAGAGGCTGGGATGTTTTGAACTTGGTGTCGTCCTCATCCTTCTCAGCAAAGAAGACAAGGCTGGAGAAGATCATAATGCCCATGGCAAGGAAGAGGATGAGCAAGCCCAACTCATTGTAGCTCCTCCGCAAAGTGAAGCCCAGAGACTGGAGGCCAGTGGAGTGGCGTGCAAGCTTAAGGATGCGGAGAATTCGCATGATGCGGAAGATCTGGACCACGCGGCGGACATTCTGGAATTGCAGCACGCTCTTGTTGGATTCGGTGAGGAAAATGGTGACATAGTATGGCAGAATGGCCAACAAGTCAATGGCATTGAGTGGGCCCTTGAAGAACTTCCACTTCTTGGGCGAGGAGAGGAACCTCAGCAGGTACTCCATGGTGAACCATGCGATGCACACGGCCTCCACGTGGGCCAGCTGGGGGTTGTCTGTGGACTGGCCGAACTCATCGAGGCTCTGTAGCTCAGGCAGCGTGTTGAGGGACAGGGCAATGGTGGAGAGGACGATGAACATGATGGAAATTATGGCAAGGATCTGTGAGGAGAAGAGAGTGGGATTTAGTTATCAACCACCCCACAGGATGATCATCATAATATCCTGGATCTACAGGGCACTCCTCAATGTTCAAGAGCATTTTCACATTTCACTAGTCATTTAATGAGCCAAAAAGAGAATTTGTTGTAATCCATTTATTGTCTAGATGTGGAAACCAAGGCCCAGAGAAATGAAATGTTTTAAAGCTATCAGCAAGCCCAGGGTTCAAGCATACTTTTTCAGATAGTAACCATTTTATAGGCCCTGAAACCCTGCATTGTCTGTCACAACGACTCGACTCTGCAGCTGTAGCATAAAACCAACCTTGGATAATACATACATGAATGGGCATAGCTGTGTTTCAATAAAACTTTATTTACAAAAATAGGCAGTGGACTGAATTTGGCCTGTGAACCATGATTTGCTGACTTCTGATCTAGACCAGTGGCTCACACTGGATGGGGAACTACCTTCACAGAGATGATACTAATGATAATAACTATCCTTGATTGAGTGTTCATTGTGTGCTAGGCACTTTCCATGAAATAGCTCATTTCATTCTTATAATAACCCCGTTCAGTGCTATTAGCTCCATTGAACAGATGCGGACACTTGGGTTTCCACAGCTAGTAAGTGGAAGAGCCAGCATTTTAACCCAGGTCTGTGTGACCCAAGAACATGAGCTCTTAAGGCTGTGTTAAAAATCAGATTTGGCTGGGTATGGTGCCTCATGTCTGTAATCCCAGCACTTTGGGAGACCTAGGCAGGAGGATCGTTTGAGGCCAGGAGTTCGAGTCTAGCCTGGGCAACATAGTGAGACTCTGTCTCTATAGAAGAACAAAGGGGAAAAAAATCAGATGAAAGCTAACCTTTTGCTAGAAAAATGCCTAGACACTCAAGATTTTGCAGGTAATTCCTAGGGAGGCACAGACATTCTGGGCCCATGTTAACTCCTGATTGGAACTATGTGCTTTTGGGGGCTAAAGACCTTGGCTTAACTACCTTTGAGTCCCCTGGATCAAGAAGAGAGCTTGGCCCAGAGAAAGGGCTCAATGGATATATGTTGAAATTAATGGAATCTAGGCCAGTAGGCCAGTCTACAGACTATGCAGAAAAGCAAACAGATGTAATCAATTGCTCTGAGGGTCTTTTTTTTTTTTTTCAAAAATACAAATCCAATCACATTACTCCTTTGTTTAATAAATCTCCAGGGCTCCTCATGAAAAAATCCAAACCCCTAAACCTGTCTATTGGGTCCCCTATACCTGTCTTGCTTTTGTAGATTTTCCCTTTCTCTTCCTCTGCCCCTGCTAAGTGGGAAGGGGGGGGCCTGGTCACCATGGTTGTATCATTTGATCCTGCCTGCCAATGATCAGAGCATGAAGTTTGGATAAAAAAATCCAAGTTAAGCCAATCCGTACACTGGGGCTTAGCCAGCCTACCTTTGAGAAATTTGAGTTCAGGAACCCAGGCGGTGAGTGGGTTACGGGAGGGTAAGTCCCTGAATTAAATGTTAAGTAGAATCTN
pathogenic
314,612
Benign or pathogenic: chromosome 20, position 50891845, gene ADNP (activity dependent neuroprotector homeobox) variant? Disease(s) if pathogenic?
pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder', 'Inborn_genetic_diseases']
GGTAAAAATACCAGCTCCTTCCATCTTTACAGCCCTGTCAGTGCTGTGCTCTTCAAAGCCTTTCCCTTAATAGCAAGAGGGCCAAGAGTGGCAAATAGAGGCAGAGCCGCCTGCACTACAGTTGTTCCCATCGTAAGGTGAAAACGAACGTTTAACTTCATCTAGAAGAAAAAACAAACAAAAAACCCATCAGGCTATTAAGATTCTGCTTGCAAATTAATGCCAATCCATGTTTACATTTTTTTTTTTATCATTGAGACATTTACATATATATGCAGGCTCTGCTCCTTAACAAAAGGTGAACTGAAAAACTCAAGGGTGTTTGTTTTTCAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAACAGATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGAAAGAGTTATGGCATTAAATGGCAAAAGATATAATGGACACACAGGACTGTCATGTGTAATAAAGCAAATATTTACATTAAGCACAATACAGCAATTTATTTAGATGCTTAAAATGAATACAAAGGGAAAATAAAGATCACAAAATTATACATACTACAACAGTGTGTCATATATTAGATGGTATAAATGAATCCACCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGT
GGTAAAAATACCAGCTCCTTCCATCTTTACAGCCCTGTCAGTGCTGTGCTCTTCAAAGCCTTTCCCTTAATAGCAAGAGGGCCAAGAGTGGCAAATAGAGGCAGAGCCGCCTGCACTACAGTTGTTCCCATCGTAAGGTGAAAACGAACGTTTAACTTCATCTAGAAGAAAAAACAAACAAAAAACCCATCAGGCTATTAAGATTCTGCTTGCAAATTAATGCCAATCCATGTTTACATTTTTTTTTTTATCATTGAGACATTTACATATATATGCAGGCTCTGCTCCTTAACAAAAGGTGAACTGAAAAACTCAAGGGTGTTTGTTTTTCAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAACAGATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGAAAGAGTTATGGCATTAAATGGCAAAAGATATAATGGACACACAGGACTGTCATGTGTAATAAAGCAAATATTTACATTAAGCACAATACAGCAATTTATTTAGATGCTTAAAATGAATACAAAGGGAAAATAAAGATCACAAAATTATACATACTACAACAGTGTGTCATATATTAGATGGTATAAATGAATCCACCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTNNNN
pathogenic
314,686
Is the variant located on chromosome 20 at position 50892001, gene ADNP (activity dependent neuroprotector homeobox), benign or pathogenic? If pathogenic, specify the disease(s) linked.
pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder']
TTCATCTAGAAGAAAAAACAAACAAAAAACCCATCAGGCTATTAAGATTCTGCTTGCAAATTAATGCCAATCCATGTTTACATTTTTTTTTTTATCATTGAGACATTTACATATATATGCAGGCTCTGCTCCTTAACAAAAGGTGAACTGAAAAACTCAAGGGTGTTTGTTTTTCAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAACAGATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGAAAGAGTTATGGCATTAAATGGCAAAAGATATAATGGACACACAGGACTGTCATGTGTAATAAAGCAAATATTTACATTAAGCACAATACAGCAATTTATTTAGATGCTTAAAATGAATACAAAGGGAAAATAAAGATCACAAAATTATACATACTACAACAGTGTGTCATATATTAGATGGTATAAATGAATCCACCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAG
TTCATCTAGAAGAAAAAACAAACAAAAAACCCATCAGGCTATTAAGATTCTGCTTGCAAATTAATGCCAATCCATGTTTACATTTTTTTTTTTATCATTGAGACATTTACATATATATGCAGGCTCTGCTCCTTAACAAAAGGTGAACTGAAAAACTCAAGGGTGTTTGTTTTTCAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAACAGATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGAAAGAGTTATGGCATTAAATGGCAAAAGATATAATGGACACACAGGACTGTCATGTGTAATAAAGCAAATATTTACATTAAGCACAATACAGCAATTTATTTAGATGCTTAAAATGAATACAAAGGGAAAATAAAGATCACAAAATTATACATACTACAACAGTGTGTCATATATTAGATGGTATAAATGAATCCACCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCA
pathogenic
314,695
Does the variant impacting ADNP (activity dependent neuroprotector homeobox) on chromosome 20, position 50892214, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder', 'Inborn_genetic_diseases']
AACAGATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGAAAGAGTTATGGCATTAAATGGCAAAAGATATAATGGACACACAGGACTGTCATGTGTAATAAAGCAAATATTTACATTAAGCACAATACAGCAATTTATTTAGATGCTTAAAATGAATACAAAGGGAAAATAAAGATCACAAAATTATACATACTACAACAGTGTGTCATATATTAGATGGTATAAATGAATCCACCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGG
AACAGATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGAAAGAGTTATGGCATTAAATGGCAAAAGATATAATGGACACACAGGACTGTCATGTGTAATAAAGCAAATATTTACATTAAGCACAATACAGCAATTTATTTAGATGCTTAAAATGAATACAAAGGGAAAATAAAGATCACAAAATTATACATACTACAACAGTGTGTCATATATTAGATGGTATAAATGAATCCACCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGNNNN
pathogenic
314,701
The chromosome 20, position 50892214 genetic variant in gene ADNP (activity dependent neuroprotector homeobox): benign or pathogenic? If pathogenic, indicate disease(s).
pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder']
AACAGATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGAAAGAGTTATGGCATTAAATGGCAAAAGATATAATGGACACACAGGACTGTCATGTGTAATAAAGCAAATATTTACATTAAGCACAATACAGCAATTTATTTAGATGCTTAAAATGAATACAAAGGGAAAATAAAGATCACAAAATTATACATACTACAACAGTGTGTCATATATTAGATGGTATAAATGAATCCACCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGG
AACAGATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGAAAGAGTTATGGCATTAAATGGCAAAAGATATAATGGACACACAGGACTGTCATGTGTAATAAAGCAAATATTTACATTAAGCACAATACAGCAATTTATTTAGATGCTTAAAATGAATACAAAGGGAAAATAAAGATCACAAAATTATACATACTACAACAGTGTGTCATATATTAGATGGTATAAATGAATCCACCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGNNNNN
pathogenic
314,702
Benign or pathogenic: chromosome 20, position 50892219, gene ADNP (activity dependent neuroprotector homeobox) variant? Disease(s) if pathogenic?
pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder', 'Inborn_genetic_diseases', 'Intellectual_disability']
ATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGAAAGAGTTATGGCATTAAATGGCAAAAGATATAATGGACACACAGGACTGTCATGTGTAATAAAGCAAATATTTACATTAAGCACAATACAGCAATTTATTTAGATGCTTAAAATGAATACAAAGGGAAAATAAAGATCACAAAATTATACATACTACAACAGTGTGTCATATATTAGATGGTATAAATGAATCCACCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATC
ATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGAAAGAGTTATGGCATTAAATGGCAAAAGATATAATGGACACACAGGACTGTCATGTGTAATAAAGCAAATATTTACATTAAGCACAATACAGCAATTTATTTAGATGCTTAAAATGAATACAAAGGGAAAATAAAGATCACAAAATTATACATACTACAACAGTGTGTCATATATTAGATGGTATAAATGAATCCACCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCNNNN
pathogenic
314,703
Regarding the variant found on chromosome 20 at position 50892501 in gene ADNP (activity dependent neuroprotector homeobox): is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder']
GTATAAATGAATCCACCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCAC
GTATAAATGAATCCACCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCA
pathogenic
314,711
Is the variant located on chromosome 20 at position 50892516, gene ADNP (activity dependent neuroprotector homeobox), benign or pathogenic? If pathogenic, specify the disease(s) linked.
pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder']
CCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTT
CCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTTNNNN
pathogenic
314,712
A genetic alteration at chromosome 20, position 50892556, in gene ADNP (activity dependent neuroprotector homeobox)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['ADNP-related_disorder', 'ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder']
AATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTTAACAGATTCCAGATCCCCCCCGGATATTCTTAATAATGCA
AATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTTAACAGATTCCAGATCCCCCCCGGATATTCTTAATAATGCAN
pathogenic
314,714
A genetic variant on chromosome 20, position 50892557, affects the gene ADNP (activity dependent neuroprotector homeobox). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder', 'Inborn_genetic_diseases', 'Intellectual_disability', 'Neurodevelopmental_disorder']
ATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTTAACAGATTCCAGATCCCCCCCGGATATTCTTAATAATGCAT
ATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTTAACAGATTCCAGATCCCCCCCGGATATTCTTAATAATGCA
pathogenic
314,717
Is the chromosome 20, position 50893875 variant in ADNP (activity dependent neuroprotector homeobox) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
benign
CAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTTAACAGATTCCAGATCCCCCCCGGATATTCTTAATAATGCATTGATTTTAGGCCGCGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCAAGGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATAAGCTGAGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTTCAGGAGGGTGAGGCAGGAGAATCGCCTGAAGCTGGGAGGTGGAGGTTGCAACGAGCCGAGATCGGCCATTGCACTCCAGCCTGGGCGACAAGAGCGAAACTGTCTCAAAAAAAAGCACTGATTTTAGTATGTTTTCCCCTTTTGTATAGTAACTTTATAAAATAGAAACTCAAAAAAAAAGCTATCTTAAACCAAATATTTTTGTCAGTGTAAATTAAAAAAATGCTAAGTTCTTTCTCAATGTTTAGGGAAAAAAAGTCACATTTTAGCTAAACCAAAGACAAATGACTTGAAGATAAACATTTTGCAGCTAGAAATAACAAGAATAACCTAAATGAAGGAAGTTACTAAAGACTTCAGGTTTACTATACAGTCATGTGTTGCTAAACCACAGGGATGCATTCTGAAAAATGTATCATGGTGTGAAATCCTCAAGTGTGTATTCACACAGACCTAGATGGTAGAACCTACTACACGCCTAGGCTACATGGCATAGCTTATTGCTCTTAGGCTACAAACCTGTACAGCATGTTTCTGTACTGATTACCATAGGCAATGATTAACACAATGGTAAATATTTGTATGTTTAAACATAGCTGAGCACAGAAAAGGTACAGTAAAAATACAATGTAAAAGATAAATGATACCATGAACAAAGCTTACAGGACTAGAAGTTACTCTGGGTGAGTCAATATGAAAGCCTGGGACATTACTGTACACTACTGTAGACTTTATGAACACTTAGGCTACACAAGTTTTACTAAAAAAAAAATTTTGAGACAAAGTCTCACTTTGTTGCTCAGGCTGGAGTGCAGTGGCACAATCGGCTCACTGCAGCCTCAACCTCTTGGGCTCATGCGATCCTCCCACCTCCGCCTCAGTCCTGGGGACTACAGGTGTGTGCCACCACACTAGGGTAAATTTTGTAGAGACAGGGTCTCCCTCTGTTGCCCAGGCTGGCCTTGAACTCCTGGGCTCGAGCAATCCTCCCGCTTTGGCTTCCCAAAGTGCTGGGATTGCAAGCCGCTGTGCCGAGCCCTAAAAAATATTTTTTCTTCAATAATAACCTCAGCTTGCTGTGGTTTATACACTTTTAAATTTTTAACTTTTTGACTCTTTTGTAGTAATACTTA
CAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTTAACAGATTCCAGATCCCCCCCGGATATTCTTAATAATGCATTGATTTTAGGCCGCGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCAAGGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATAAGCTGAGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTTCAGGAGGGTGAGGCAGGAGAATCGCCTGAAGCTGGGAGGTGGAGGTTGCAACGAGCCGAGATCGGCCATTGCACTCCAGCCTGGGCGACAAGAGCGAAACTGTCTCAAAAAAAAGCACTGATTTTAGTATGTTTTCCCCTTTTGTATAGTAACTTTATAAAATAGAAACTCAAAAAAAAAGCTATCTTAAACCAAATATTTTTGTCAGTGTAAATTAAAAAAATGCTAAGTTCTTTCTCAATGTTTAGGGAAAAAAAGTCACATTTTAGCTAAACCAAAGACAAATGACTTGAAGATAAACATTTTGCAGCTAGAAATAACAAGAATAACCTAAATGAAGGAAGTTACTAAAGACTTCAGGTTTACTATACAGTCATGTGTTGCTAAACCACAGGGATGCATTCTGAAAAATGTATCATGGTGTGAAATCCTCAAGTGTGTATTCACACAGACCTAGATGGTAGAACCTACTACACGCCTAGGCTACATGGCATAGCTTATTGCTCTTAGGCTACAAACCTGTACAGCATGTTTCTGTACTGATTACCATAGGCAATGATTAACACAATGGTAAATATTTGTATGTTTAAACATAGCTGAGCACAGAAAAGGTACAGTAAAAATACAATGTAAAAGATAAATGATACCATGAACAAAGCTTACAGGACTAGAAGTTACTCTGGGTGAGTCAATATGAAAGCCTGGGACATTACTGTACACTACTGTAGACTTTATGAACACTTAGGCTACACAAGTTTTACTAAAAAAAAAATTTTGAGACAAAGTCTCACTTTGTTGCTCAGGCTGGAGTGCAGTGGCACAATCGGCTCACTGCAGCCTCAACCTCTTGGGCTCATGCGATCCTCCCACCTCCGCCTCAGTCCTGGGGACTACAGGTGTGTGCCACCACACTAGGGTAAATTTTGTAGAGACAGGGTCTCCCTCTGTTGCCCAGGCTGGCCTTGAACTCCTGGGCTCGAGCAATCCTCCCGCTTTGGCTTCCCAAAGTGCTGGGATTGCAAGCCGCTGTGCCGAGCCCTAAAAAATATTTTTTCTTCAATAATAACCTCAGCTTGCTGTGGTTTATACACTTTTAAATTTTTAACTTTTTGACTCTTTTGTAGTAATACTTANNN
benign
314,750
Does the variant impacting ADNP (activity dependent neuroprotector homeobox) on chromosome 20, position 50894057, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder']
TTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTTAACAGATTCCAGATCCCCCCCGGATATTCTTAATAATGCATTGATTTTAGGCCGCGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCAAGGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATAAGCTGAGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTTCAGGAGGGTGAGGCAGGAGAATCGCCTGAAGCTGGGAGGTGGAGGTTGCAACGAGCCGAGATCGGCCATTGCACTCCAGCCTGGGCGACAAGAGCGAAACTGTCTCAAAAAAAAGCACTGATTTTAGTATGTTTTCCCCTTTTGTATAGTAACTTTATAAAATAGAAACTCAAAAAAAAAGCTATCTTAAACCAAATATTTTTGTCAGTGTAAATTAAAAAAATGCTAAGTTCTTTCTCAATGTTTAGGGAAAAAAAGTCACATTTTAGCTAAACCAAAGACAAATGACTTGAAGATAAACATTTTGCAGCTAGAAATAACAAGAATAACCTAAATGAAGGAAGTTACTAAAGACTTCAGGTTTACTATACAGTCATGTGTTGCTAAACCACAGGGATGCATTCTGAAAAATGTATCATGGTGTGAAATCCTCAAGTGTGTATTCACACAGACCTAGATGGTAGAACCTACTACACGCCTAGGCTACATGGCATAGCTTATTGCTCTTAGGCTACAAACCTGTACAGCATGTTTCTGTACTGATTACCATAGGCAATGATTAACACAATGGTAAATATTTGTATGTTTAAACATAGCTGAGCACAGAAAAGGTACAGTAAAAATACAATGTAAAAGATAAATGATACCATGAACAAAGCTTACAGGACTAGAAGTTACTCTGGGTGAGTCAATATGAAAGCCTGGGACATTACTGTACACTACTGTAGACTTTATGAACACTTAGGCTACACAAGTTTTACTAAAAAAAAAATTTTGAGACAAAGTCTCACTTTGTTGCTCAGGCTGGAGTGCAGTGGCACAATCGGCTCACTGCAGCCTCAACCTCTTGGGCTCATGCGATCCTCCCACCTCCGCCTCAGTCCTGGGGACTACAGGTGTGTGCCACCACACTAGGGTAAATTTTGTAGAGACAGGGTCTCCCTCTGTTGCCCAGGCTGGCCTTGAACTCCTGGGCTCGAGCAATCCTCCCGCTTTGGCTTCCCAAAGTGCTGGGATTGCAAGCCGCTGTGCCGAGCCCTAAAAAATATTTTTTCTTCAATAATAACCTCAGCTTGCTGTGGTTTATACACTTTTAAATTTTTAACTTTTTGACTCTTTTGTAGTAATACTTAGCTTAAAACACAAACAGATTGGCCAGGCACAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGCGGGTGGATCACCTGAGGTCAAGAGCTTGAGACCAGCCTGACCAACATGGTGAAACCCTACCTTTACTGAAAATAAAAAAAATAGCTGCACATGGTGGCAGGCACCTGTA
TTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTTAACAGATTCCAGATCCCCCCCGGATATTCTTAATAATGCATTGATTTTAGGCCGCGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCAAGGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATAAGCTGAGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTTCAGGAGGGTGAGGCAGGAGAATCGCCTGAAGCTGGGAGGTGGAGGTTGCAACGAGCCGAGATCGGCCATTGCACTCCAGCCTGGGCGACAAGAGCGAAACTGTCTCAAAAAAAAGCACTGATTTTAGTATGTTTTCCCCTTTTGTATAGTAACTTTATAAAATAGAAACTCAAAAAAAAAGCTATCTTAAACCAAATATTTTTGTCAGTGTAAATTAAAAAAATGCTAAGTTCTTTCTCAATGTTTAGGGAAAAAAAGTCACATTTTAGCTAAACCAAAGACAAATGACTTGAAGATAAACATTTTGCAGCTAGAAATAACAAGAATAACCTAAATGAAGGAAGTTACTAAAGACTTCAGGTTTACTATACAGTCATGTGTTGCTAAACCACAGGGATGCATTCTGAAAAATGTATCATGGTGTGAAATCCTCAAGTGTGTATTCACACAGACCTAGATGGTAGAACCTACTACACGCCTAGGCTACATGGCATAGCTTATTGCTCTTAGGCTACAAACCTGTACAGCATGTTTCTGTACTGATTACCATAGGCAATGATTAACACAATGGTAAATATTTGTATGTTTAAACATAGCTGAGCACAGAAAAGGTACAGTAAAAATACAATGTAAAAGATAAATGATACCATGAACAAAGCTTACAGGACTAGAAGTTACTCTGGGTGAGTCAATATGAAAGCCTGGGACATTACTGTACACTACTGTAGACTTTATGAACACTTAGGCTACACAAGTTTTACTAAAAAAAAAATTTTGAGACAAAGTCTCACTTTGTTGCTCAGGCTGGAGTGCAGTGGCACAATCGGCTCACTGCAGCCTCAACCTCTTGGGCTCATGCGATCCTCCCACCTCCGCCTCAGTCCTGGGGACTACAGGTGTGTGCCACCACACTAGGGTAAATTTTGTAGAGACAGGGTCTCCCTCTGTTGCCCAGGCTGGCCTTGAACTCCTGGGCTCGAGCAATCCTCCCGCTTTGGCTTCCCAAAGTGCTGGGATTGCAAGCCGCTGTGCCGAGCCCTAAAAAATATTTTTTCTTCAATAATAACCTCAGCTTGCTGTGGTTTATACACTTTTAAATTTTTAACTTTTTGACTCTTTTGTAGTAATACTTAGCTTAAAACACAAACAGATTGGCCAGGCACAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGCGGGTGGATCACCTGAGGTCAAGAGCTTGAGACCAGCCTGACCAACATGGTGAAACCCTACCTTTACTGAAAATAAAAAAAATAGCTGCACATGGTGGCAGGCACCTGTANN
pathogenic
314,755
Considering the variant on chromosome 20, location 50894171, involving gene ADNP (activity dependent neuroprotector homeobox), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder', 'Inborn_genetic_diseases']
TTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTTAACAGATTCCAGATCCCCCCCGGATATTCTTAATAATGCATTGATTTTAGGCCGCGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCAAGGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATAAGCTGAGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTTCAGGAGGGTGAGGCAGGAGAATCGCCTGAAGCTGGGAGGTGGAGGTTGCAACGAGCCGAGATCGGCCATTGCACTCCAGCCTGGGCGACAAGAGCGAAACTGTCTCAAAAAAAAGCACTGATTTTAGTATGTTTTCCCCTTTTGTATAGTAACTTTATAAAATAGAAACTCAAAAAAAAAGCTATCTTAAACCAAATATTTTTGTCAGTGTAAATTAAAAAAATGCTAAGTTCTTTCTCAATGTTTAGGGAAAAAAAGTCACATTTTAGCTAAACCAAAGACAAATGACTTGAAGATAAACATTTTGCAGCTAGAAATAACAAGAATAACCTAAATGAAGGAAGTTACTAAAGACTTCAGGTTTACTATACAGTCATGTGTTGCTAAACCACAGGGATGCATTCTGAAAAATGTATCATGGTGTGAAATCCTCAAGTGTGTATTCACACAGACCTAGATGGTAGAACCTACTACACGCCTAGGCTACATGGCATAGCTTATTGCTCTTAGGCTACAAACCTGTACAGCATGTTTCTGTACTGATTACCATAGGCAATGATTAACACAATGGTAAATATTTGTATGTTTAAACATAGCTGAGCACAGAAAAGGTACAGTAAAAATACAATGTAAAAGATAAATGATACCATGAACAAAGCTTACAGGACTAGAAGTTACTCTGGGTGAGTCAATATGAAAGCCTGGGACATTACTGTACACTACTGTAGACTTTATGAACACTTAGGCTACACAAGTTTTACTAAAAAAAAAATTTTGAGACAAAGTCTCACTTTGTTGCTCAGGCTGGAGTGCAGTGGCACAATCGGCTCACTGCAGCCTCAACCTCTTGGGCTCATGCGATCCTCCCACCTCCGCCTCAGTCCTGGGGACTACAGGTGTGTGCCACCACACTAGGGTAAATTTTGTAGAGACAGGGTCTCCCTCTGTTGCCCAGGCTGGCCTTGAACTCCTGGGCTCGAGCAATCCTCCCGCTTTGGCTTCCCAAAGTGCTGGGATTGCAAGCCGCTGTGCCGAGCCCTAAAAAATATTTTTTCTTCAATAATAACCTCAGCTTGCTGTGGTTTATACACTTTTAAATTTTTAACTTTTTGACTCTTTTGTAGTAATACTTAGCTTAAAACACAAACAGATTGGCCAGGCACAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGCGGGTGGATCACCTGAGGTCAAGAGCTTGAGACCAGCCTGACCAACATGGTGAAACCCTACCTTTACTGAAAATAAAAAAAATAGCTGCACATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACAGCACAGCACTCTAGCCTGGGCAACACAGCGAGACTC
TTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTTAACAGATTCCAGATCCCCCCCGGATATTCTTAATAATGCATTGATTTTAGGCCGCGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCAAGGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATAAGCTGAGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTTCAGGAGGGTGAGGCAGGAGAATCGCCTGAAGCTGGGAGGTGGAGGTTGCAACGAGCCGAGATCGGCCATTGCACTCCAGCCTGGGCGACAAGAGCGAAACTGTCTCAAAAAAAAGCACTGATTTTAGTATGTTTTCCCCTTTTGTATAGTAACTTTATAAAATAGAAACTCAAAAAAAAAGCTATCTTAAACCAAATATTTTTGTCAGTGTAAATTAAAAAAATGCTAAGTTCTTTCTCAATGTTTAGGGAAAAAAAGTCACATTTTAGCTAAACCAAAGACAAATGACTTGAAGATAAACATTTTGCAGCTAGAAATAACAAGAATAACCTAAATGAAGGAAGTTACTAAAGACTTCAGGTTTACTATACAGTCATGTGTTGCTAAACCACAGGGATGCATTCTGAAAAATGTATCATGGTGTGAAATCCTCAAGTGTGTATTCACACAGACCTAGATGGTAGAACCTACTACACGCCTAGGCTACATGGCATAGCTTATTGCTCTTAGGCTACAAACCTGTACAGCATGTTTCTGTACTGATTACCATAGGCAATGATTAACACAATGGTAAATATTTGTATGTTTAAACATAGCTGAGCACAGAAAAGGTACAGTAAAAATACAATGTAAAAGATAAATGATACCATGAACAAAGCTTACAGGACTAGAAGTTACTCTGGGTGAGTCAATATGAAAGCCTGGGACATTACTGTACACTACTGTAGACTTTATGAACACTTAGGCTACACAAGTTTTACTAAAAAAAAAATTTTGAGACAAAGTCTCACTTTGTTGCTCAGGCTGGAGTGCAGTGGCACAATCGGCTCACTGCAGCCTCAACCTCTTGGGCTCATGCGATCCTCCCACCTCCGCCTCAGTCCTGGGGACTACAGGTGTGTGCCACCACACTAGGGTAAATTTTGTAGAGACAGGGTCTCCCTCTGTTGCCCAGGCTGGCCTTGAACTCCTGGGCTCGAGCAATCCTCCCGCTTTGGCTTCCCAAAGTGCTGGGATTGCAAGCCGCTGTGCCGAGCCCTAAAAAATATTTTTTCTTCAATAATAACCTCAGCTTGCTGTGGTTTATACACTTTTAAATTTTTAACTTTTTGACTCTTTTGTAGTAATACTTAGCTTAAAACACAAACAGATTGGCCAGGCACAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGCGGGTGGATCACCTGAGGTCAAGAGCTTGAGACCAGCCTGACCAACATGGTGAAACCCTACCTTTACTGAAAATAAAAAAAATAGCTGCACATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACAGCACAGCACTCTAGCCTGGGCAACACAGCGAGACTCNNNN
pathogenic
314,758
Variant in gene ADNP (activity dependent neuroprotector homeobox), located at chromosome 20 position 50894289: benign or pathogenic? What disease(s) does it cause if pathogenic?
benign
CCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTTAACAGATTCCAGATCCCCCCCGGATATTCTTAATAATGCATTGATTTTAGGCCGCGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCAAGGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATAAGCTGAGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTTCAGGAGGGTGAGGCAGGAGAATCGCCTGAAGCTGGGAGGTGGAGGTTGCAACGAGCCGAGATCGGCCATTGCACTCCAGCCTGGGCGACAAGAGCGAAACTGTCTCAAAAAAAAGCACTGATTTTAGTATGTTTTCCCCTTTTGTATAGTAACTTTATAAAATAGAAACTCAAAAAAAAAGCTATCTTAAACCAAATATTTTTGTCAGTGTAAATTAAAAAAATGCTAAGTTCTTTCTCAATGTTTAGGGAAAAAAAGTCACATTTTAGCTAAACCAAAGACAAATGACTTGAAGATAAACATTTTGCAGCTAGAAATAACAAGAATAACCTAAATGAAGGAAGTTACTAAAGACTTCAGGTTTACTATACAGTCATGTGTTGCTAAACCACAGGGATGCATTCTGAAAAATGTATCATGGTGTGAAATCCTCAAGTGTGTATTCACACAGACCTAGATGGTAGAACCTACTACACGCCTAGGCTACATGGCATAGCTTATTGCTCTTAGGCTACAAACCTGTACAGCATGTTTCTGTACTGATTACCATAGGCAATGATTAACACAATGGTAAATATTTGTATGTTTAAACATAGCTGAGCACAGAAAAGGTACAGTAAAAATACAATGTAAAAGATAAATGATACCATGAACAAAGCTTACAGGACTAGAAGTTACTCTGGGTGAGTCAATATGAAAGCCTGGGACATTACTGTACACTACTGTAGACTTTATGAACACTTAGGCTACACAAGTTTTACTAAAAAAAAAATTTTGAGACAAAGTCTCACTTTGTTGCTCAGGCTGGAGTGCAGTGGCACAATCGGCTCACTGCAGCCTCAACCTCTTGGGCTCATGCGATCCTCCCACCTCCGCCTCAGTCCTGGGGACTACAGGTGTGTGCCACCACACTAGGGTAAATTTTGTAGAGACAGGGTCTCCCTCTGTTGCCCAGGCTGGCCTTGAACTCCTGGGCTCGAGCAATCCTCCCGCTTTGGCTTCCCAAAGTGCTGGGATTGCAAGCCGCTGTGCCGAGCCCTAAAAAATATTTTTTCTTCAATAATAACCTCAGCTTGCTGTGGTTTATACACTTTTAAATTTTTAACTTTTTGACTCTTTTGTAGTAATACTTAGCTTAAAACACAAACAGATTGGCCAGGCACAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGCGGGTGGATCACCTGAGGTCAAGAGCTTGAGACCAGCCTGACCAACATGGTGAAACCCTACCTTTACTGAAAATAAAAAAAATAGCTGCACATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACAGCACAGCACTCTAGCCTGGGCAACACAGCGAGACTCCGTCTCAGAAACAAACAAAAACCCCCAAAACAAACACATTGTACAGCCGTACAAAAATATTTTCTATCTTCATATGCCTATTCTATAAGCTTAAAAAAATTTGTTTTAAAAAAAAACT
CCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTTAACAGATTCCAGATCCCCCCCGGATATTCTTAATAATGCATTGATTTTAGGCCGCGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCAAGGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATAAGCTGAGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTTCAGGAGGGTGAGGCAGGAGAATCGCCTGAAGCTGGGAGGTGGAGGTTGCAACGAGCCGAGATCGGCCATTGCACTCCAGCCTGGGCGACAAGAGCGAAACTGTCTCAAAAAAAAGCACTGATTTTAGTATGTTTTCCCCTTTTGTATAGTAACTTTATAAAATAGAAACTCAAAAAAAAAGCTATCTTAAACCAAATATTTTTGTCAGTGTAAATTAAAAAAATGCTAAGTTCTTTCTCAATGTTTAGGGAAAAAAAGTCACATTTTAGCTAAACCAAAGACAAATGACTTGAAGATAAACATTTTGCAGCTAGAAATAACAAGAATAACCTAAATGAAGGAAGTTACTAAAGACTTCAGGTTTACTATACAGTCATGTGTTGCTAAACCACAGGGATGCATTCTGAAAAATGTATCATGGTGTGAAATCCTCAAGTGTGTATTCACACAGACCTAGATGGTAGAACCTACTACACGCCTAGGCTACATGGCATAGCTTATTGCTCTTAGGCTACAAACCTGTACAGCATGTTTCTGTACTGATTACCATAGGCAATGATTAACACAATGGTAAATATTTGTATGTTTAAACATAGCTGAGCACAGAAAAGGTACAGTAAAAATACAATGTAAAAGATAAATGATACCATGAACAAAGCTTACAGGACTAGAAGTTACTCTGGGTGAGTCAATATGAAAGCCTGGGACATTACTGTACACTACTGTAGACTTTATGAACACTTAGGCTACACAAGTTTTACTAAAAAAAAAATTTTGAGACAAAGTCTCACTTTGTTGCTCAGGCTGGAGTGCAGTGGCACAATCGGCTCACTGCAGCCTCAACCTCTTGGGCTCATGCGATCCTCCCACCTCCGCCTCAGTCCTGGGGACTACAGGTGTGTGCCACCACACTAGGGTAAATTTTGTAGAGACAGGGTCTCCCTCTGTTGCCCAGGCTGGCCTTGAACTCCTGGGCTCGAGCAATCCTCCCGCTTTGGCTTCCCAAAGTGCTGGGATTGCAAGCCGCTGTGCCGAGCCCTAAAAAATATTTTTTCTTCAATAATAACCTCAGCTTGCTGTGGTTTATACACTTTTAAATTTTTAACTTTTTGACTCTTTTGTAGTAATACTTAGCTTAAAACACAAACAGATTGGCCAGGCACAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGCGGGTGGATCACCTGAGGTCAAGAGCTTGAGACCAGCCTGACCAACATGGTGAAACCCTACCTTTACTGAAAATAAAAAAAATAGCTGCACATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACAGCACAGCACTCTAGCCTGGGCAACACAGCGAGACTCCGTCTCAGAAACAAACAAAAACCCCCAAAACAAACACATTGTACAGCCGTACAAAAATATTTTCTATCTTCATATGCCTATTCTATAAGCTTAAAAAAATTTGTTTTAAAAAAAA
benign
314,762
The mutation in gene ADNP (activity dependent neuroprotector homeobox) at chromosome 20, position 50902027—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder']
AAGCTAAGTGTTATTACAAAAGATTCAGAAGTTAAGAATTTTAAAGTTTTACTTTTTATGTAGCCTAAGTGTGTTTATAAAGTCTACAGTGATGTACAATAATGTCCCTTCATATTCAGTCACCACTCAGAGCAACTTCCAGTCCCGCAAGTGCCCAATATAGGTGTACCAATTTTTCTTTTATATTGCATTTTTACTGTACCTTTTCTATGCTTCACTATGTTTAGAAACACAAATACTTACCATTGTGTTAATCACTCTTATAGTATTCAGTATATAGTATTCTCTTATAGTAACATGCCATACAAGTTTGTAGCCTAGGAGCAACAGGCCATACCATATAGCGTAGGGGTAATAGGAGGCTATACCACCTAGGTCTGTGTAAGTACCCTTTATGATGTTTGTACAACAATGACATCACCTAACAGGGCATTTCTCAGAATGCATCCCATCATTAAGCAATGCACGACGGTATTATACGCTGTAAATAACTGTATGTGCTATACTTCTATGACTGGCAGCACAGGTGTGTTTACATTAGTATCACTACAAACATGAATCATATGTTGCGCTATGATGTCATAAGGTAGCAAGTTTTTCAGCTCAATTATATTCTTATGGGACCACTGTCGTAGATGTAGTTCATCACTGACCAAAATGTCGTTATGTGGTGAATGACTGCGGTAAAATTCAGGGCCCACGATGTTTTAGTGCAATTAGACAATTACAAGAGATAAAGCTATATCTTTTATTCCTTTCCTCATTATGGATAAATTTTCATAGAAAAAAGGCAAATCTCCATTTTTTCCTCTGATTAAAGTACAGTGTAGTATCAGATTCAGCGCTGATCAAAAGAAAGACTGATTTGAAAAGTTGGCTTTCTTCTATAAGCCTTGCTGTTCCTTCTCAACCAAGAACACTTCAAAAGAGCTAATGAAGTAATAGCTGCTTTGATTCAAATCAAGAAGTTAAATAAAAATGTCCTACAGACTGTGAGGAGGGTGAGGTATTTAAAAGCCAATAATACATTATAGAATATACTGATATCAAAGAGCAACTTTCAGAATTATGATTGTTAACACCTATGCAGTCAGTCCTTTGATGAAGGCAGGTGAACTGACATGCTTGGTAAGAGATTATCTTTTCTCCCTAGAAACCTACTTGTTTCAGATACTGGTTTGAACCATGATGAAATACTCTGCTTCTCCTCAAAGCTCAACTCTTCTTTAGTATTCAGCTATGAGGCTTTCAGATTGATAAAACTGAATTAAATAAATGATGTGTCCCACTGGAAAGCATTCTCATTCTAAGACTGCTGGTTAGTAACTTTGCCTGGGGTATTTAAAAAAAAAAAAAAAAAAAAAAAAAAGTCAAATATCTGAGTACTAATTTCCTGAAAAGTATGTTCCGATAGATGAACAGATCATTAATGCAGAATGAGAATCACTCCTAAAATAGGTAATGGTAAAAATTAAATTGACAATTACCTCTCTCTATGCAGAAGGAAATATCACCTATATGACATCATCATCATCTATTGATACTTGCTGGCAGTGCTAATATTGTTTTTAATGCCAATTTGTAAGAAGTTTTATCTCTCTGTCACTGACATCCTACAGAGTCACTTCCCCAGGCCTCCCATAGAAGTTGGGTGCCATCAACATAGGGAAATAAGAAAAGCTTAAATGTAAGGAAGGGTCTTGTCTTTTTCTGTGCAGAAAAAACAAGAATGGCAACACAGATGCAGAAAAATAGAGCCAGAGCACTTTTAGGGGAAATGGTGGGATACAGCAGGCTTCGTAACTTTTAAGTAACAAAATTTTGTTTCTTCTTACACCTCAAGTTTTAGTCCAATGACAAAAAAGGACAAAAAGTTTTTCTTAGTCTTCCCACTGGTCAGGAAAATATGAAATGCAATTTTGACACTTTCGATGTTTGGCACTTGCCCGCAATCACTGCACCGCTATAAAAGGCCTAGAGCTGAAAAGGGAGTATACCAAGCATGCTGCCATCTGAGGAAGTCTCCTGTGCCACTTACCTGGTTTTTCGTAAGTGATGGGTCCCACAGTCCTACATCCTCCCATGTAGTGTTTTTCAAATAAAAGTCATTAGGTTCAAATTGTTTAAAATCCTAGAAAACAGTGAAATAAGTTTACAAAAACATAGTGGTATAAACGCTAACCCAATCTTACATGTAAATCTCACCTCTTAACTAAGATGGGGAGAGGCACAGGAAAACCAACGTCAACAAGGACTTAAACTAGGAGTGATAAGGCTCTTAAATATAAAAAGGCATATGGAAGTTGCAGTCTACATTTTATATCAACCAACCACTTTCCTGATGGTCAGTCAGGTTTCCAAGGAAATTGCTGGAAGTTCTAATTAAGTAAAAAATTCAGCCACACACTAATATCAAAGCACTTTTCATTAGAGTACTGTACTCTAACTCGTCAGTTACAGTACTGGAATGGTGTCTAAAATAGCAATGTTTGCTTACAGCACTGCAAATATGATTTCTGGTTCTGTGCAAAAAAAAGATTTTTTTCGAGGGGAGGGGGCAGGAGATCAGATCAGGAAGAAAACTCAAATTTCAAACCCAAAAAGGCAGAAAGAAAGCTATTCAAAGAAAGTTAAGCAGTATGATGTTAAATTTATACTCTCATGTAAAAATTTAATGGTCCACTTCCCTCCAGACTAGGAAGATTAAAAGTCTTAGGGTAAAATCCCACTTGTTCCTAAAAAGTTCACAGTTCAAGGTGGAAAATGAAGTCTACACATAAATAATCATAGGAGGAACAAATCAAATGCATGACAGAAATGTACTGTGATGTTGGTATTAATTATTTCTATGAAGATGACCCCACAGAGTGCAAAGTGAATGGACTGTTTCATTTGGGCAGATCTACCTGAACTCTGGGGTTGGAGAAGGGCTACTTCCACACTTGGAACAACGTGACTAGAGAAGTCAACTTTTGAGCAGCTTCTGTTTCCATGCCATACTCTTCAAGTATTATTAGTGGAACTCAAATTAAGAAAACCTGTTGTATGAATGAATTTGCTTTTTTACTTCCAATTCCATTCAAACACTTACTGATCACCTATTACGTGCAAAACACTGTGCTAGGTGCTGGGGCTAAATGGATAAACAAGGTAGCTATGTTCCCTAGCCACCTAGAACTTAAAGGTTAGTGGGGGAAACAGCTTCAAACATTTCTTTTCAATCAGGGGCTCTGACCAACAAACCATAAGACCTGGAACAGTGAGATGTTGAAAAGGAGACCACTGCATGGCTATCCCACAGAGCTGTTATAAAGCTCATAGAATAAAACAGCTTGAAAAACAGTTCATAAAGCCCAAACTGTTATACAAGGGGGAAAGTAATAGTCTATGATGGGTCAAAAGGGGCAACAAATGCTCAAATCCTAAGGAAAGAGACAACAAGCACCCACACAAGCACGCCTCAACAATTAGAAGAAGGTCAACCAGAACATTCAGGCGTATCAGAATGAGAACAGGCTTTGAGTCCCACAGACACTGCCACTTTCTCAGCTGCAAGGCTGGGCCTATTTATTTGTTCTTCATCTGTGAAGTGGAGATAAGAACTGCTACACTGCCTCCCGCCTCCATGGTTGTTCTAAGGATTAAATGTATAGACAACTTTACGGCACCTAGTTCAACGCCTGACATGCTTAAGTCCTCAATGGTAGCCTTCTGCTTCAGGATGCAAAAATGAAAAAGCCCATTTTAGGGAGAAAGGCACAAGTTAATGCTATTGAGAATGTTTTCGTGAAGCTACTGCTGTGGCTGAAATTCAGAATCACATCTAAGATTTAGCCATCTTGGCCACTGACACAAAGTAATGGATCAGAAGCTGAGTCATGTTAAAATTTAAAAATGACATGCTACTTACTTCTATATGTTCTTTACAGTATTCCAACCCAATGTCACTAAGTATTTTTTTCACAGTTTTCCGGGCTTTTCTTAAACTGCCAAGATTGTTGACAGGAAGTTGGAACATAGTTTCTATTGGAAAAAAAAATTTAAGTCAAAGTCAAAACACGTACAACTTGTAATATTTACTAATTCCACTGATGAT
AAGCTAAGTGTTATTACAAAAGATTCAGAAGTTAAGAATTTTAAAGTTTTACTTTTTATGTAGCCTAAGTGTGTTTATAAAGTCTACAGTGATGTACAATAATGTCCCTTCATATTCAGTCACCACTCAGAGCAACTTCCAGTCCCGCAAGTGCCCAATATAGGTGTACCAATTTTTCTTTTATATTGCATTTTTACTGTACCTTTTCTATGCTTCACTATGTTTAGAAACACAAATACTTACCATTGTGTTAATCACTCTTATAGTATTCAGTATATAGTATTCTCTTATAGTAACATGCCATACAAGTTTGTAGCCTAGGAGCAACAGGCCATACCATATAGCGTAGGGGTAATAGGAGGCTATACCACCTAGGTCTGTGTAAGTACCCTTTATGATGTTTGTACAACAATGACATCACCTAACAGGGCATTTCTCAGAATGCATCCCATCATTAAGCAATGCACGACGGTATTATACGCTGTAAATAACTGTATGTGCTATACTTCTATGACTGGCAGCACAGGTGTGTTTACATTAGTATCACTACAAACATGAATCATATGTTGCGCTATGATGTCATAAGGTAGCAAGTTTTTCAGCTCAATTATATTCTTATGGGACCACTGTCGTAGATGTAGTTCATCACTGACCAAAATGTCGTTATGTGGTGAATGACTGCGGTAAAATTCAGGGCCCACGATGTTTTAGTGCAATTAGACAATTACAAGAGATAAAGCTATATCTTTTATTCCTTTCCTCATTATGGATAAATTTTCATAGAAAAAAGGCAAATCTCCATTTTTTCCTCTGATTAAAGTACAGTGTAGTATCAGATTCAGCGCTGATCAAAAGAAAGACTGATTTGAAAAGTTGGCTTTCTTCTATAAGCCTTGCTGTTCCTTCTCAACCAAGAACACTTCAAAAGAGCTAATGAAGTAATAGCTGCTTTGATTCAAATCAAGAAGTTAAATAAAAATGTCCTACAGACTGTGAGGAGGGTGAGGTATTTAAAAGCCAATAATACATTATAGAATATACTGATATCAAAGAGCAACTTTCAGAATTATGATTGTTAACACCTATGCAGTCAGTCCTTTGATGAAGGCAGGTGAACTGACATGCTTGGTAAGAGATTATCTTTTCTCCCTAGAAACCTACTTGTTTCAGATACTGGTTTGAACCATGATGAAATACTCTGCTTCTCCTCAAAGCTCAACTCTTCTTTAGTATTCAGCTATGAGGCTTTCAGATTGATAAAACTGAATTAAATAAATGATGTGTCCCACTGGAAAGCATTCTCATTCTAAGACTGCTGGTTAGTAACTTTGCCTGGGGTATTTAAAAAAAAAAAAAAAAAAAAAAAAAAGTCAAATATCTGAGTACTAATTTCCTGAAAAGTATGTTCCGATAGATGAACAGATCATTAATGCAGAATGAGAATCACTCCTAAAATAGGTAATGGTAAAAATTAAATTGACAATTACCTCTCTCTATGCAGAAGGAAATATCACCTATATGACATCATCATCATCTATTGATACTTGCTGGCAGTGCTAATATTGTTTTTAATGCCAATTTGTAAGAAGTTTTATCTCTCTGTCACTGACATCCTACAGAGTCACTTCCCCAGGCCTCCCATAGAAGTTGGGTGCCATCAACATAGGGAAATAAGAAAAGCTTAAATGTAAGGAAGGGTCTTGTCTTTTTCTGTGCAGAAAAAACAAGAATGGCAACACAGATGCAGAAAAATAGAGCCAGAGCACTTTTAGGGGAAATGGTGGGATACAGCAGGCTTCGTAACTTTTAAGTAACAAAATTTTGTTTCTTCTTACACCTCAAGTTTTAGTCCAATGACAAAAAAGGACAAAAAGTTTTTCTTAGTCTTCCCACTGGTCAGGAAAATATGAAATGCAATTTTGACACTTTCGATGTTTGGCACTTGCCCGCAATCACTGCACCGCTATAAAAGGCCTAGAGCTGAAAAGGGAGTATACCAAGCATGCTGCCATCTGAGGAAGTCTCCTGTGCCACTTACCTGGTTTTTCGTTAAGTGATGGGTCCCACAGTCCTACATCCTCCCATGTAGTGTTTTTCAAATAAAAGTCATTAGGTTCAAATTGTTTAAAATCCTAGAAAACAGTGAAATAAGTTTACAAAAACATAGTGGTATAAACGCTAACCCAATCTTACATGTAAATCTCACCTCTTAACTAAGATGGGGAGAGGCACAGGAAAACCAACGTCAACAAGGACTTAAACTAGGAGTGATAAGGCTCTTAAATATAAAAAGGCATATGGAAGTTGCAGTCTACATTTTATATCAACCAACCACTTTCCTGATGGTCAGTCAGGTTTCCAAGGAAATTGCTGGAAGTTCTAATTAAGTAAAAAATTCAGCCACACACTAATATCAAAGCACTTTTCATTAGAGTACTGTACTCTAACTCGTCAGTTACAGTACTGGAATGGTGTCTAAAATAGCAATGTTTGCTTACAGCACTGCAAATATGATTTCTGGTTCTGTGCAAAAAAAAGATTTTTTTCGAGGGGAGGGGGCAGGAGATCAGATCAGGAAGAAAACTCAAATTTCAAACCCAAAAAGGCAGAAAGAAAGCTATTCAAAGAAAGTTAAGCAGTATGATGTTAAATTTATACTCTCATGTAAAAATTTAATGGTCCACTTCCCTCCAGACTAGGAAGATTAAAAGTCTTAGGGTAAAATCCCACTTGTTCCTAAAAAGTTCACAGTTCAAGGTGGAAAATGAAGTCTACACATAAATAATCATAGGAGGAACAAATCAAATGCATGACAGAAATGTACTGTGATGTTGGTATTAATTATTTCTATGAAGATGACCCCACAGAGTGCAAAGTGAATGGACTGTTTCATTTGGGCAGATCTACCTGAACTCTGGGGTTGGAGAAGGGCTACTTCCACACTTGGAACAACGTGACTAGAGAAGTCAACTTTTGAGCAGCTTCTGTTTCCATGCCATACTCTTCAAGTATTATTAGTGGAACTCAAATTAAGAAAACCTGTTGTATGAATGAATTTGCTTTTTTACTTCCAATTCCATTCAAACACTTACTGATCACCTATTACGTGCAAAACACTGTGCTAGGTGCTGGGGCTAAATGGATAAACAAGGTAGCTATGTTCCCTAGCCACCTAGAACTTAAAGGTTAGTGGGGGAAACAGCTTCAAACATTTCTTTTCAATCAGGGGCTCTGACCAACAAACCATAAGACCTGGAACAGTGAGATGTTGAAAAGGAGACCACTGCATGGCTATCCCACAGAGCTGTTATAAAGCTCATAGAATAAAACAGCTTGAAAAACAGTTCATAAAGCCCAAACTGTTATACAAGGGGGAAAGTAATAGTCTATGATGGGTCAAAAGGGGCAACAAATGCTCAAATCCTAAGGAAAGAGACAACAAGCACCCACACAAGCACGCCTCAACAATTAGAAGAAGGTCAACCAGAACATTCAGGCGTATCAGAATGAGAACAGGCTTTGAGTCCCACAGACACTGCCACTTTCTCAGCTGCAAGGCTGGGCCTATTTATTTGTTCTTCATCTGTGAAGTGGAGATAAGAACTGCTACACTGCCTCCCGCCTCCATGGTTGTTCTAAGGATTAAATGTATAGACAACTTTACGGCACCTAGTTCAACGCCTGACATGCTTAAGTCCTCAATGGTAGCCTTCTGCTTCAGGATGCAAAAATGAAAAAGCCCATTTTAGGGAGAAAGGCACAAGTTAATGCTATTGAGAATGTTTTCGTGAAGCTACTGCTGTGGCTGAAATTCAGAATCACATCTAAGATTTAGCCATCTTGGCCACTGACACAAAGTAATGGATCAGAAGCTGAGTCATGTTAAAATTTAAAAATGACATGCTACTTACTTCTATATGTTCTTTACAGTATTCCAACCCAATGTCACTAAGTATTTTTTTCACAGTTTTCCGGGCTTTTCTTAAACTGCCAAGATTGTTGACAGGAAGTTGGAACATAGTTTCTATTGGAAAAAAAAATTTAAGTCAAAGTCAAAACACGTACAACTTGTAATATTTACTAATTCCACTGATGA
pathogenic
314,767
Chromosome 20, position 50903932, gene ADNP (activity dependent neuroprotector homeobox): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder']
TATGAAATGCAATTTTGACACTTTCGATGTTTGGCACTTGCCCGCAATCACTGCACCGCTATAAAAGGCCTAGAGCTGAAAAGGGAGTATACCAAGCATGCTGCCATCTGAGGAAGTCTCCTGTGCCACTTACCTGGTTTTTCGTAAGTGATGGGTCCCACAGTCCTACATCCTCCCATGTAGTGTTTTTCAAATAAAAGTCATTAGGTTCAAATTGTTTAAAATCCTAGAAAACAGTGAAATAAGTTTACAAAAACATAGTGGTATAAACGCTAACCCAATCTTACATGTAAATCTCACCTCTTAACTAAGATGGGGAGAGGCACAGGAAAACCAACGTCAACAAGGACTTAAACTAGGAGTGATAAGGCTCTTAAATATAAAAAGGCATATGGAAGTTGCAGTCTACATTTTATATCAACCAACCACTTTCCTGATGGTCAGTCAGGTTTCCAAGGAAATTGCTGGAAGTTCTAATTAAGTAAAAAATTCAGCCACACACTAATATCAAAGCACTTTTCATTAGAGTACTGTACTCTAACTCGTCAGTTACAGTACTGGAATGGTGTCTAAAATAGCAATGTTTGCTTACAGCACTGCAAATATGATTTCTGGTTCTGTGCAAAAAAAAGATTTTTTTCGAGGGGAGGGGGCAGGAGATCAGATCAGGAAGAAAACTCAAATTTCAAACCCAAAAAGGCAGAAAGAAAGCTATTCAAAGAAAGTTAAGCAGTATGATGTTAAATTTATACTCTCATGTAAAAATTTAATGGTCCACTTCCCTCCAGACTAGGAAGATTAAAAGTCTTAGGGTAAAATCCCACTTGTTCCTAAAAAGTTCACAGTTCAAGGTGGAAAATGAAGTCTACACATAAATAATCATAGGAGGAACAAATCAAATGCATGACAGAAATGTACTGTGATGTTGGTATTAATTATTTCTATGAAGATGACCCCACAGAGTGCAAAGTGAATGGACTGTTTCATTTGGGCAGATCTACCTGAACTCTGGGGTTGGAGAAGGGCTACTTCCACACTTGGAACAACGTGACTAGAGAAGTCAACTTTTGAGCAGCTTCTGTTTCCATGCCATACTCTTCAAGTATTATTAGTGGAACTCAAATTAAGAAAACCTGTTGTATGAATGAATTTGCTTTTTTACTTCCAATTCCATTCAAACACTTACTGATCACCTATTACGTGCAAAACACTGTGCTAGGTGCTGGGGCTAAATGGATAAACAAGGTAGCTATGTTCCCTAGCCACCTAGAACTTAAAGGTTAGTGGGGGAAACAGCTTCAAACATTTCTTTTCAATCAGGGGCTCTGACCAACAAACCATAAGACCTGGAACAGTGAGATGTTGAAAAGGAGACCACTGCATGGCTATCCCACAGAGCTGTTATAAAGCTCATAGAATAAAACAGCTTGAAAAACAGTTCATAAAGCCCAAACTGTTATACAAGGGGGAAAGTAATAGTCTATGATGGGTCAAAAGGGGCAACAAATGCTCAAATCCTAAGGAAAGAGACAACAAGCACCCACACAAGCACGCCTCAACAATTAGAAGAAGGTCAACCAGAACATTCAGGCGTATCAGAATGAGAACAGGCTTTGAGTCCCACAGACACTGCCACTTTCTCAGCTGCAAGGCTGGGCCTATTTATTTGTTCTTCATCTGTGAAGTGGAGATAAGAACTGCTACACTGCCTCCCGCCTCCATGGTTGTTCTAAGGATTAAATGTATAGACAACTTTACGGCACCTAGTTCAACGCCTGACATGCTTAAGTCCTCAATGGTAGCCTTCTGCTTCAGGATGCAAAAATGAAAAAGCCCATTTTAGGGAGAAAGGCACAAGTTAATGCTATTGAGAATGTTTTCGTGAAGCTACTGCTGTGGCTGAAATTCAGAATCACATCTAAGATTTAGCCATCTTGGCCACTGACACAAAGTAATGGATCAGAAGCTGAGTCATGTTAAAATTTAAAAATGACATGCTACTTACTTCTATATGTTCTTTACAGTATTCCAACCCAATGTCACTAAGTATTTTTTTCACAGTTTTCCGGGCTTTTCTTAAACTGCCAAGATTGTTGACAGGAAGTTGGAACATAGTTTCTATTGGAAAAAAAAATTTAAGTCAAAGTCAAAACACGTACAACTTGTAATATTTACTAATTCCACTGATGATAGGATCATAAAACCTACCCATCTGACAAAAAAGGTGCATAGATATCCTCATCTAGTGTGTACACACACAGACACACACCTGCTTTCATGTGCATATGGCTTGATATATCCATCCATCCATCCTTCCTTCCTTTTCTTAAGACAGAGTCTTACTCTGTCGCGCAGGCTGGAGTGCAGTGCACTCATGGTTCATTGACTGCAGTGCACTCACGATTCACCATAGCCTCAACCTTCTGGGCTCAAGTGATCCTCTCACCTCAGCTTCTCAAGAGGAAGGGACTCCAGGAGTGCGCCACTATGCCCAACTAATTTTTAAAATTTTTTTGTAGAGACTAGGTCTCACTATGTTGCCAAGGCTGCTCACAAACTCCTGGACTCAAGCCATCCTCCTGCCTTGGCACCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGAGCCGAGCACATATCTACTATATTTTGAATACTTAAAGCAGGCAGGCAAAATAAGTACTCTCTGATTTTCCCAGTTTTTAACAGGACATTTTGACTATGAGTCTAATCTGGCATAATTCTGATAAGACTTAACAACAGTTCAGTAATGAACTTCAAGATGAAAATTAGAGAAATACTAGCAATCAATTATTTTTAAATCAAGTGTTAGTGCTTTTCTCATTTTGATGTTGAACATCTGAAAACAGAAAAATGCTTACCAGTTCATCATCATTACAGTTTTGAGTGCCAGGGTAAAGAGGTTTTTGTTGAATTGGAACTGTCCTGCCTACTGCTACGGTATTCTTTAAAACAAAAACAAAAACAAAAACAAAAACAAAAAAACCTTAAGTTTCTGTATACTCCCCAAACTAAATACAGTAATGATATGTGACTCGACCAATGCATGCCCCCACTCCACCCCTGCCTGCAACGTACCTGGGCAAAGGTACTCAAAAATGTTAACTGTTACAGACTTTAAGGAGGGTACTTTTGAAAAAAATGAAAAGCCTGTATGTGTCTAAGGGAACTCAAAAATTATTTTAATGACCTAATACATTAAATTAGAAATTCATATCAACTTTCCCAAGTTCCTTAAAACAGAAGTTTGTCTTTAATGAGAAAATAAAATCAGTAAAACCTGGGCAGCTGAGAATATGTATGGTTTCTAATGAGATCAGAAATGCTTCCCATAATATGGTAAAAATTTATCAATTTAATAATCCAAATCTAACACAATTTCGCAGGATATAAAGTAGTTCTAAAACCCAAAACAGCAAAAACAAAAGACAAAGCACCAGGAATTAAAATTTAATATATGCAAATCCAGTTTTCTAATTAACAAAGGCTGTTACTCTGTAATACCAATATCATCTGTAAATGGCAAGTCAACTAATCCAAATGTAATAAAATGCTGCCTCATTTATTATTCTAATCCAAAATCAACGTTAACTATAAAAAAATGGAAAATAAAAGGAGAAAGAGTGAAATCTACCAAAATCAAAGAGTAACCCCTAGAAATTTTGAAACTGGGTACGTTACTCTAACTTAGAAGTCTCAAAATATTCTATATGAAGTACCAAAGTCTAATTGGGGCCGAAAATGAAAAGTATTTCAAAAAAACCTTCTAGGCCTTATCATACTCAAGATAGAATTGCTGCTCACTATGAAGCAATGACTATGGTGTCCCCTGCTCTCTCTGCTATGCTAATAATCTGCATATTGTGAAGCCAACTACAGACTTAGAAGTCACTTCTGATATAAATTAAGACCAAATCAATTATTTTTTGTCCAAATTTTATTGCTAAATTGTTTTAAACCATCTTTTGTGGTGGCTTAAAACCAGCAAATTCTTTATCACTTGCTTAATTTAAAACAGTTAGTACACACTGGGCATGGTGCCTCACGCCTGTAATCCCAACACTTTAGGAGGCCG
TATGAAATGCAATTTTGACACTTTCGATGTTTGGCACTTGCCCGCAATCACTGCACCGCTATAAAAGGCCTAGAGCTGAAAAGGGAGTATACCAAGCATGCTGCCATCTGAGGAAGTCTCCTGTGCCACTTACCTGGTTTTTCGTAAGTGATGGGTCCCACAGTCCTACATCCTCCCATGTAGTGTTTTTCAAATAAAAGTCATTAGGTTCAAATTGTTTAAAATCCTAGAAAACAGTGAAATAAGTTTACAAAAACATAGTGGTATAAACGCTAACCCAATCTTACATGTAAATCTCACCTCTTAACTAAGATGGGGAGAGGCACAGGAAAACCAACGTCAACAAGGACTTAAACTAGGAGTGATAAGGCTCTTAAATATAAAAAGGCATATGGAAGTTGCAGTCTACATTTTATATCAACCAACCACTTTCCTGATGGTCAGTCAGGTTTCCAAGGAAATTGCTGGAAGTTCTAATTAAGTAAAAAATTCAGCCACACACTAATATCAAAGCACTTTTCATTAGAGTACTGTACTCTAACTCGTCAGTTACAGTACTGGAATGGTGTCTAAAATAGCAATGTTTGCTTACAGCACTGCAAATATGATTTCTGGTTCTGTGCAAAAAAAAGATTTTTTTCGAGGGGAGGGGGCAGGAGATCAGATCAGGAAGAAAACTCAAATTTCAAACCCAAAAAGGCAGAAAGAAAGCTATTCAAAGAAAGTTAAGCAGTATGATGTTAAATTTATACTCTCATGTAAAAATTTAATGGTCCACTTCCCTCCAGACTAGGAAGATTAAAAGTCTTAGGGTAAAATCCCACTTGTTCCTAAAAAGTTCACAGTTCAAGGTGGAAAATGAAGTCTACACATAAATAATCATAGGAGGAACAAATCAAATGCATGACAGAAATGTACTGTGATGTTGGTATTAATTATTTCTATGAAGATGACCCCACAGAGTGCAAAGTGAATGGACTGTTTCATTTGGGCAGATCTACCTGAACTCTGGGGTTGGAGAAGGGCTACTTCCACACTTGGAACAACGTGACTAGAGAAGTCAACTTTTGAGCAGCTTCTGTTTCCATGCCATACTCTTCAAGTATTATTAGTGGAACTCAAATTAAGAAAACCTGTTGTATGAATGAATTTGCTTTTTTACTTCCAATTCCATTCAAACACTTACTGATCACCTATTACGTGCAAAACACTGTGCTAGGTGCTGGGGCTAAATGGATAAACAAGGTAGCTATGTTCCCTAGCCACCTAGAACTTAAAGGTTAGTGGGGGAAACAGCTTCAAACATTTCTTTTCAATCAGGGGCTCTGACCAACAAACCATAAGACCTGGAACAGTGAGATGTTGAAAAGGAGACCACTGCATGGCTATCCCACAGAGCTGTTATAAAGCTCATAGAATAAAACAGCTTGAAAAACAGTTCATAAAGCCCAAACTGTTATACAAGGGGGAAAGTAATAGTCTATGATGGGTCAAAAGGGGCAACAAATGCTCAAATCCTAAGGAAAGAGACAACAAGCACCCACACAAGCACGCCTCAACAATTAGAAGAAGGTCAACCAGAACATTCAGGCGTATCAGAATGAGAACAGGCTTTGAGTCCCACAGACACTGCCACTTTCTCAGCTGCAAGGCTGGGCCTATTTATTTGTTCTTCATCTGTGAAGTGGAGATAAGAACTGCTACACTGCCTCCCGCCTCCATGGTTGTTCTAAGGATTAAATGTATAGACAACTTTACGGCACCTAGTTCAACGCCTGACATGCTTAAGTCCTCAATGGTAGCCTTCTGCTTCAGGATGCAAAAATGAAAAAGCCCATTTTAGGGAGAAAGGCACAAGTTAATGCTATTGAGAATGTTTTCGTGAAGCTACTGCTGTGGCTGAAATTCAGAATCACATCTAAGATTTAGCCATCTTGGCCACTGACACAAAGTAATGGATCAGAAGCTGAGTCATGTTAAAATTTAAAAATGACATGCTACTTACTTCTATATGTTCTTTACAGTATTCCAACCCAATGTCACTAAGTATTTTTTTTCACAGTTTTCCGGGCTTTTCTTAAACTGCCAAGATTGTTGACAGGAAGTTGGAACATAGTTTCTATTGGAAAAAAAAATTTAAGTCAAAGTCAAAACACGTACAACTTGTAATATTTACTAATTCCACTGATGATAGGATCATAAAACCTACCCATCTGACAAAAAAGGTGCATAGATATCCTCATCTAGTGTGTACACACACAGACACACACCTGCTTTCATGTGCATATGGCTTGATATATCCATCCATCCATCCTTCCTTCCTTTTCTTAAGACAGAGTCTTACTCTGTCGCGCAGGCTGGAGTGCAGTGCACTCATGGTTCATTGACTGCAGTGCACTCACGATTCACCATAGCCTCAACCTTCTGGGCTCAAGTGATCCTCTCACCTCAGCTTCTCAAGAGGAAGGGACTCCAGGAGTGCGCCACTATGCCCAACTAATTTTTAAAATTTTTTTGTAGAGACTAGGTCTCACTATGTTGCCAAGGCTGCTCACAAACTCCTGGACTCAAGCCATCCTCCTGCCTTGGCACCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGAGCCGAGCACATATCTACTATATTTTGAATACTTAAAGCAGGCAGGCAAAATAAGTACTCTCTGATTTTCCCAGTTTTTAACAGGACATTTTGACTATGAGTCTAATCTGGCATAATTCTGATAAGACTTAACAACAGTTCAGTAATGAACTTCAAGATGAAAATTAGAGAAATACTAGCAATCAATTATTTTTAAATCAAGTGTTAGTGCTTTTCTCATTTTGATGTTGAACATCTGAAAACAGAAAAATGCTTACCAGTTCATCATCATTACAGTTTTGAGTGCCAGGGTAAAGAGGTTTTTGTTGAATTGGAACTGTCCTGCCTACTGCTACGGTATTCTTTAAAACAAAAACAAAAACAAAAACAAAAACAAAAAAACCTTAAGTTTCTGTATACTCCCCAAACTAAATACAGTAATGATATGTGACTCGACCAATGCATGCCCCCACTCCACCCCTGCCTGCAACGTACCTGGGCAAAGGTACTCAAAAATGTTAACTGTTACAGACTTTAAGGAGGGTACTTTTGAAAAAAATGAAAAGCCTGTATGTGTCTAAGGGAACTCAAAAATTATTTTAATGACCTAATACATTAAATTAGAAATTCATATCAACTTTCCCAAGTTCCTTAAAACAGAAGTTTGTCTTTAATGAGAAAATAAAATCAGTAAAACCTGGGCAGCTGAGAATATGTATGGTTTCTAATGAGATCAGAAATGCTTCCCATAATATGGTAAAAATTTATCAATTTAATAATCCAAATCTAACACAATTTCGCAGGATATAAAGTAGTTCTAAAACCCAAAACAGCAAAAACAAAAGACAAAGCACCAGGAATTAAAATTTAATATATGCAAATCCAGTTTTCTAATTAACAAAGGCTGTTACTCTGTAATACCAATATCATCTGTAAATGGCAAGTCAACTAATCCAAATGTAATAAAATGCTGCCTCATTTATTATTCTAATCCAAAATCAACGTTAACTATAAAAAAATGGAAAATAAAAGGAGAAAGAGTGAAATCTACCAAAATCAAAGAGTAACCCCTAGAAATTTTGAAACTGGGTACGTTACTCTAACTTAGAAGTCTCAAAATATTCTATATGAAGTACCAAAGTCTAATTGGGGCCGAAAATGAAAAGTATTTCAAAAAAACCTTCTAGGCCTTATCATACTCAAGATAGAATTGCTGCTCACTATGAAGCAATGACTATGGTGTCCCCTGCTCTCTCTGCTATGCTAATAATCTGCATATTGTGAAGCCAACTACAGACTTAGAAGTCACTTCTGATATAAATTAAGACCAAATCAATTATTTTTTGTCCAAATTTTATTGCTAAATTGTTTTAAACCATCTTTTGTGGTGGCTTAAAACCAGCAAATTCTTTATCACTTGCTTAATTTAAAACAGTTAGTACACACTGGGCATGGTGCCTCACGCCTGTAATCCCAACACTTTAGGAGGCC
pathogenic
314,771
For chromosome 20, position 50903939, gene ADNP (activity dependent neuroprotector homeobox): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic
TGCAATTTTGACACTTTCGATGTTTGGCACTTGCCCGCAATCACTGCACCGCTATAAAAGGCCTAGAGCTGAAAAGGGAGTATACCAAGCATGCTGCCATCTGAGGAAGTCTCCTGTGCCACTTACCTGGTTTTTCGTAAGTGATGGGTCCCACAGTCCTACATCCTCCCATGTAGTGTTTTTCAAATAAAAGTCATTAGGTTCAAATTGTTTAAAATCCTAGAAAACAGTGAAATAAGTTTACAAAAACATAGTGGTATAAACGCTAACCCAATCTTACATGTAAATCTCACCTCTTAACTAAGATGGGGAGAGGCACAGGAAAACCAACGTCAACAAGGACTTAAACTAGGAGTGATAAGGCTCTTAAATATAAAAAGGCATATGGAAGTTGCAGTCTACATTTTATATCAACCAACCACTTTCCTGATGGTCAGTCAGGTTTCCAAGGAAATTGCTGGAAGTTCTAATTAAGTAAAAAATTCAGCCACACACTAATATCAAAGCACTTTTCATTAGAGTACTGTACTCTAACTCGTCAGTTACAGTACTGGAATGGTGTCTAAAATAGCAATGTTTGCTTACAGCACTGCAAATATGATTTCTGGTTCTGTGCAAAAAAAAGATTTTTTTCGAGGGGAGGGGGCAGGAGATCAGATCAGGAAGAAAACTCAAATTTCAAACCCAAAAAGGCAGAAAGAAAGCTATTCAAAGAAAGTTAAGCAGTATGATGTTAAATTTATACTCTCATGTAAAAATTTAATGGTCCACTTCCCTCCAGACTAGGAAGATTAAAAGTCTTAGGGTAAAATCCCACTTGTTCCTAAAAAGTTCACAGTTCAAGGTGGAAAATGAAGTCTACACATAAATAATCATAGGAGGAACAAATCAAATGCATGACAGAAATGTACTGTGATGTTGGTATTAATTATTTCTATGAAGATGACCCCACAGAGTGCAAAGTGAATGGACTGTTTCATTTGGGCAGATCTACCTGAACTCTGGGGTTGGAGAAGGGCTACTTCCACACTTGGAACAACGTGACTAGAGAAGTCAACTTTTGAGCAGCTTCTGTTTCCATGCCATACTCTTCAAGTATTATTAGTGGAACTCAAATTAAGAAAACCTGTTGTATGAATGAATTTGCTTTTTTACTTCCAATTCCATTCAAACACTTACTGATCACCTATTACGTGCAAAACACTGTGCTAGGTGCTGGGGCTAAATGGATAAACAAGGTAGCTATGTTCCCTAGCCACCTAGAACTTAAAGGTTAGTGGGGGAAACAGCTTCAAACATTTCTTTTCAATCAGGGGCTCTGACCAACAAACCATAAGACCTGGAACAGTGAGATGTTGAAAAGGAGACCACTGCATGGCTATCCCACAGAGCTGTTATAAAGCTCATAGAATAAAACAGCTTGAAAAACAGTTCATAAAGCCCAAACTGTTATACAAGGGGGAAAGTAATAGTCTATGATGGGTCAAAAGGGGCAACAAATGCTCAAATCCTAAGGAAAGAGACAACAAGCACCCACACAAGCACGCCTCAACAATTAGAAGAAGGTCAACCAGAACATTCAGGCGTATCAGAATGAGAACAGGCTTTGAGTCCCACAGACACTGCCACTTTCTCAGCTGCAAGGCTGGGCCTATTTATTTGTTCTTCATCTGTGAAGTGGAGATAAGAACTGCTACACTGCCTCCCGCCTCCATGGTTGTTCTAAGGATTAAATGTATAGACAACTTTACGGCACCTAGTTCAACGCCTGACATGCTTAAGTCCTCAATGGTAGCCTTCTGCTTCAGGATGCAAAAATGAAAAAGCCCATTTTAGGGAGAAAGGCACAAGTTAATGCTATTGAGAATGTTTTCGTGAAGCTACTGCTGTGGCTGAAATTCAGAATCACATCTAAGATTTAGCCATCTTGGCCACTGACACAAAGTAATGGATCAGAAGCTGAGTCATGTTAAAATTTAAAAATGACATGCTACTTACTTCTATATGTTCTTTACAGTATTCCAACCCAATGTCACTAAGTATTTTTTTCACAGTTTTCCGGGCTTTTCTTAAACTGCCAAGATTGTTGACAGGAAGTTGGAACATAGTTTCTATTGGAAAAAAAAATTTAAGTCAAAGTCAAAACACGTACAACTTGTAATATTTACTAATTCCACTGATGATAGGATCATAAAACCTACCCATCTGACAAAAAAGGTGCATAGATATCCTCATCTAGTGTGTACACACACAGACACACACCTGCTTTCATGTGCATATGGCTTGATATATCCATCCATCCATCCTTCCTTCCTTTTCTTAAGACAGAGTCTTACTCTGTCGCGCAGGCTGGAGTGCAGTGCACTCATGGTTCATTGACTGCAGTGCACTCACGATTCACCATAGCCTCAACCTTCTGGGCTCAAGTGATCCTCTCACCTCAGCTTCTCAAGAGGAAGGGACTCCAGGAGTGCGCCACTATGCCCAACTAATTTTTAAAATTTTTTTGTAGAGACTAGGTCTCACTATGTTGCCAAGGCTGCTCACAAACTCCTGGACTCAAGCCATCCTCCTGCCTTGGCACCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGAGCCGAGCACATATCTACTATATTTTGAATACTTAAAGCAGGCAGGCAAAATAAGTACTCTCTGATTTTCCCAGTTTTTAACAGGACATTTTGACTATGAGTCTAATCTGGCATAATTCTGATAAGACTTAACAACAGTTCAGTAATGAACTTCAAGATGAAAATTAGAGAAATACTAGCAATCAATTATTTTTAAATCAAGTGTTAGTGCTTTTCTCATTTTGATGTTGAACATCTGAAAACAGAAAAATGCTTACCAGTTCATCATCATTACAGTTTTGAGTGCCAGGGTAAAGAGGTTTTTGTTGAATTGGAACTGTCCTGCCTACTGCTACGGTATTCTTTAAAACAAAAACAAAAACAAAAACAAAAACAAAAAAACCTTAAGTTTCTGTATACTCCCCAAACTAAATACAGTAATGATATGTGACTCGACCAATGCATGCCCCCACTCCACCCCTGCCTGCAACGTACCTGGGCAAAGGTACTCAAAAATGTTAACTGTTACAGACTTTAAGGAGGGTACTTTTGAAAAAAATGAAAAGCCTGTATGTGTCTAAGGGAACTCAAAAATTATTTTAATGACCTAATACATTAAATTAGAAATTCATATCAACTTTCCCAAGTTCCTTAAAACAGAAGTTTGTCTTTAATGAGAAAATAAAATCAGTAAAACCTGGGCAGCTGAGAATATGTATGGTTTCTAATGAGATCAGAAATGCTTCCCATAATATGGTAAAAATTTATCAATTTAATAATCCAAATCTAACACAATTTCGCAGGATATAAAGTAGTTCTAAAACCCAAAACAGCAAAAACAAAAGACAAAGCACCAGGAATTAAAATTTAATATATGCAAATCCAGTTTTCTAATTAACAAAGGCTGTTACTCTGTAATACCAATATCATCTGTAAATGGCAAGTCAACTAATCCAAATGTAATAAAATGCTGCCTCATTTATTATTCTAATCCAAAATCAACGTTAACTATAAAAAAATGGAAAATAAAAGGAGAAAGAGTGAAATCTACCAAAATCAAAGAGTAACCCCTAGAAATTTTGAAACTGGGTACGTTACTCTAACTTAGAAGTCTCAAAATATTCTATATGAAGTACCAAAGTCTAATTGGGGCCGAAAATGAAAAGTATTTCAAAAAAACCTTCTAGGCCTTATCATACTCAAGATAGAATTGCTGCTCACTATGAAGCAATGACTATGGTGTCCCCTGCTCTCTCTGCTATGCTAATAATCTGCATATTGTGAAGCCAACTACAGACTTAGAAGTCACTTCTGATATAAATTAAGACCAAATCAATTATTTTTTGTCCAAATTTTATTGCTAAATTGTTTTAAACCATCTTTTGTGGTGGCTTAAAACCAGCAAATTCTTTATCACTTGCTTAATTTAAAACAGTTAGTACACACTGGGCATGGTGCCTCACGCCTGTAATCCCAACACTTTAGGAGGCCGAGGAGGG
TGCAATTTTGACACTTTCGATGTTTGGCACTTGCCCGCAATCACTGCACCGCTATAAAAGGCCTAGAGCTGAAAAGGGAGTATACCAAGCATGCTGCCATCTGAGGAAGTCTCCTGTGCCACTTACCTGGTTTTTCGTAAGTGATGGGTCCCACAGTCCTACATCCTCCCATGTAGTGTTTTTCAAATAAAAGTCATTAGGTTCAAATTGTTTAAAATCCTAGAAAACAGTGAAATAAGTTTACAAAAACATAGTGGTATAAACGCTAACCCAATCTTACATGTAAATCTCACCTCTTAACTAAGATGGGGAGAGGCACAGGAAAACCAACGTCAACAAGGACTTAAACTAGGAGTGATAAGGCTCTTAAATATAAAAAGGCATATGGAAGTTGCAGTCTACATTTTATATCAACCAACCACTTTCCTGATGGTCAGTCAGGTTTCCAAGGAAATTGCTGGAAGTTCTAATTAAGTAAAAAATTCAGCCACACACTAATATCAAAGCACTTTTCATTAGAGTACTGTACTCTAACTCGTCAGTTACAGTACTGGAATGGTGTCTAAAATAGCAATGTTTGCTTACAGCACTGCAAATATGATTTCTGGTTCTGTGCAAAAAAAAGATTTTTTTCGAGGGGAGGGGGCAGGAGATCAGATCAGGAAGAAAACTCAAATTTCAAACCCAAAAAGGCAGAAAGAAAGCTATTCAAAGAAAGTTAAGCAGTATGATGTTAAATTTATACTCTCATGTAAAAATTTAATGGTCCACTTCCCTCCAGACTAGGAAGATTAAAAGTCTTAGGGTAAAATCCCACTTGTTCCTAAAAAGTTCACAGTTCAAGGTGGAAAATGAAGTCTACACATAAATAATCATAGGAGGAACAAATCAAATGCATGACAGAAATGTACTGTGATGTTGGTATTAATTATTTCTATGAAGATGACCCCACAGAGTGCAAAGTGAATGGACTGTTTCATTTGGGCAGATCTACCTGAACTCTGGGGTTGGAGAAGGGCTACTTCCACACTTGGAACAACGTGACTAGAGAAGTCAACTTTTGAGCAGCTTCTGTTTCCATGCCATACTCTTCAAGTATTATTAGTGGAACTCAAATTAAGAAAACCTGTTGTATGAATGAATTTGCTTTTTTACTTCCAATTCCATTCAAACACTTACTGATCACCTATTACGTGCAAAACACTGTGCTAGGTGCTGGGGCTAAATGGATAAACAAGGTAGCTATGTTCCCTAGCCACCTAGAACTTAAAGGTTAGTGGGGGAAACAGCTTCAAACATTTCTTTTCAATCAGGGGCTCTGACCAACAAACCATAAGACCTGGAACAGTGAGATGTTGAAAAGGAGACCACTGCATGGCTATCCCACAGAGCTGTTATAAAGCTCATAGAATAAAACAGCTTGAAAAACAGTTCATAAAGCCCAAACTGTTATACAAGGGGGAAAGTAATAGTCTATGATGGGTCAAAAGGGGCAACAAATGCTCAAATCCTAAGGAAAGAGACAACAAGCACCCACACAAGCACGCCTCAACAATTAGAAGAAGGTCAACCAGAACATTCAGGCGTATCAGAATGAGAACAGGCTTTGAGTCCCACAGACACTGCCACTTTCTCAGCTGCAAGGCTGGGCCTATTTATTTGTTCTTCATCTGTGAAGTGGAGATAAGAACTGCTACACTGCCTCCCGCCTCCATGGTTGTTCTAAGGATTAAATGTATAGACAACTTTACGGCACCTAGTTCAACGCCTGACATGCTTAAGTCCTCAATGGTAGCCTTCTGCTTCAGGATGCAAAAATGAAAAAGCCCATTTTAGGGAGAAAGGCACAAGTTAATGCTATTGAGAATGTTTTCGTGAAGCTACTGCTGTGGCTGAAATTCAGAATCACATCTAAGATTTAGCCATCTTGGCCACTGACACAAAGTAATGGATCAGAAGCTGAGTCATGTTAAAATTTAAAAATGACATGCTACTTACTTCTATATGTTCTTTACAGTATTCCAACCCAATGTCACTAAGTATTTTTTTCAGTTTTCCGGGCTTTTCTTAAACTGCCAAGATTGTTGACAGGAAGTTGGAACATAGTTTCTATTGGAAAAAAAAATTTAAGTCAAAGTCAAAACACGTACAACTTGTAATATTTACTAATTCCACTGATGATAGGATCATAAAACCTACCCATCTGACAAAAAAGGTGCATAGATATCCTCATCTAGTGTGTACACACACAGACACACACCTGCTTTCATGTGCATATGGCTTGATATATCCATCCATCCATCCTTCCTTCCTTTTCTTAAGACAGAGTCTTACTCTGTCGCGCAGGCTGGAGTGCAGTGCACTCATGGTTCATTGACTGCAGTGCACTCACGATTCACCATAGCCTCAACCTTCTGGGCTCAAGTGATCCTCTCACCTCAGCTTCTCAAGAGGAAGGGACTCCAGGAGTGCGCCACTATGCCCAACTAATTTTTAAAATTTTTTTGTAGAGACTAGGTCTCACTATGTTGCCAAGGCTGCTCACAAACTCCTGGACTCAAGCCATCCTCCTGCCTTGGCACCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGAGCCGAGCACATATCTACTATATTTTGAATACTTAAAGCAGGCAGGCAAAATAAGTACTCTCTGATTTTCCCAGTTTTTAACAGGACATTTTGACTATGAGTCTAATCTGGCATAATTCTGATAAGACTTAACAACAGTTCAGTAATGAACTTCAAGATGAAAATTAGAGAAATACTAGCAATCAATTATTTTTAAATCAAGTGTTAGTGCTTTTCTCATTTTGATGTTGAACATCTGAAAACAGAAAAATGCTTACCAGTTCATCATCATTACAGTTTTGAGTGCCAGGGTAAAGAGGTTTTTGTTGAATTGGAACTGTCCTGCCTACTGCTACGGTATTCTTTAAAACAAAAACAAAAACAAAAACAAAAACAAAAAAACCTTAAGTTTCTGTATACTCCCCAAACTAAATACAGTAATGATATGTGACTCGACCAATGCATGCCCCCACTCCACCCCTGCCTGCAACGTACCTGGGCAAAGGTACTCAAAAATGTTAACTGTTACAGACTTTAAGGAGGGTACTTTTGAAAAAAATGAAAAGCCTGTATGTGTCTAAGGGAACTCAAAAATTATTTTAATGACCTAATACATTAAATTAGAAATTCATATCAACTTTCCCAAGTTCCTTAAAACAGAAGTTTGTCTTTAATGAGAAAATAAAATCAGTAAAACCTGGGCAGCTGAGAATATGTATGGTTTCTAATGAGATCAGAAATGCTTCCCATAATATGGTAAAAATTTATCAATTTAATAATCCAAATCTAACACAATTTCGCAGGATATAAAGTAGTTCTAAAACCCAAAACAGCAAAAACAAAAGACAAAGCACCAGGAATTAAAATTTAATATATGCAAATCCAGTTTTCTAATTAACAAAGGCTGTTACTCTGTAATACCAATATCATCTGTAAATGGCAAGTCAACTAATCCAAATGTAATAAAATGCTGCCTCATTTATTATTCTAATCCAAAATCAACGTTAACTATAAAAAAATGGAAAATAAAAGGAGAAAGAGTGAAATCTACCAAAATCAAAGAGTAACCCCTAGAAATTTTGAAACTGGGTACGTTACTCTAACTTAGAAGTCTCAAAATATTCTATATGAAGTACCAAAGTCTAATTGGGGCCGAAAATGAAAAGTATTTCAAAAAAACCTTCTAGGCCTTATCATACTCAAGATAGAATTGCTGCTCACTATGAAGCAATGACTATGGTGTCCCCTGCTCTCTCTGCTATGCTAATAATCTGCATATTGTGAAGCCAACTACAGACTTAGAAGTCACTTCTGATATAAATTAAGACCAAATCAATTATTTTTTGTCCAAATTTTATTGCTAAATTGTTTTAAACCATCTTTTGTGGTGGCTTAAAACCAGCAAATTCTTTATCACTTGCTTAATTTAAAACAGTTAGTACACACTGGGCATGGTGCCTCACGCCTGTAATCCCAACACTTTAGGAGGCCGAGGAGGGNN
pathogenic
314,772
Regarding the variant found on chromosome 20 at position 50935242 in gene DPM1: is it benign or pathogenic? If pathogenic, identify the disease(s).
benign
ATTGTGTGAATAACTAAAAAGATTTAAAAGGCAAACATTATCTACTCTAGTGAGTATCTGAGAAGGCAGTACTATCTATATTAGGTTCTCTAAGGTTGTTACTTAATTTCTGCTCCACATACTTGACACTGAGAACTCAACTTTGAGTTTAGGTTAAGAAAAAATAAATTCTAACCACTCCAAAAAAACTGAGAATATTACATTTCTATTATCTTAGCTTAAAACTAATTTCACATCAAGCACTGATGAATTTTCTTCTTGTTATGAATGAGAGAAGTTTCTTCCCTAAGGAAAGCAGTTCCCTCACTGGCCAGCTGGACAGTTCTGGACATAAGGGAAACAGAACAAGAGTGGCCCTTATTGGAATGTGTACTATGGGTTCAACTATAGAAGCGTGGGAGGGGGTGGTTTTAATGTTCGAAATGACACCACAGGTTTTATAGTCTGGGATTCATTTCTGGTAGAATCTGTCAGAGAGAAATGCAAATGAAAAATCAGATTTTCATTTTTTTTTCTTTTAAAAAAGACAGGGTCTCACTCTGTTGTCCAGGCATGATCACAGCTCACTGCAGCCTTGACCTCCCAGACTCAAGTGAACCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGGTGAGTGCCACCACACCCAGCTTTTTTTATATTTTTGTAGAGACAGGATCTCCCTATGTTCCCTAGGCTGGTCTCAAATGCCTGTGCTCAAGCCATCCTCTTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGACATGGGCCATTGTGCTGGGCCTCAATTTCTTCAGCAGCCAAGTTAAGCCAGGAAAATGTAGTAATTAGGAATACTGTTCAATAAATAATTTAGAGACACCTCTTACTTTTATTTCCAGAAGAAAGTCAACTTAAACTTACTTGCTCAAAGCATGCCCTTACTCAAATTTTAAAAGATACTACATGACCATAACCTATGCTACAGTTAGAAATTAACTGATCTCTTCTGAAATACCTACTTTAGAGAAAGTGGGTAAACATAATATTTGCCCTGGCTTTATTGGATAGCTTAGCCCAAATTTTAACTGGCAGAACACTTTTCTAAATGGAGAGAAGAGCTTAAGGCAGAGATTTTTCAAATTAGTAGGGATGTGAGCTTTGCTGAGGGTCTTTAAATAATATGAAAACAAGTCTTTTGAGAAAAAAATTGTTATATAATTCAGTAAGATGTTTAAAAATTACTGTAGCAGCTAAGTTTCTGCCTCAGTGTCATTAATATTTTTCCTTACTGATAGAGGTTATTGCTCAAAAGAGAAAAAAACGGCTATGTAATCAACTGCTGTCAAATTGTTTCCCAATTCACAATATGCATTTTAAATAGACCTGCTTTGATAGATGAAATGTTTCATCAATTCAACAGCTGAAAAGAACCGAACTGTAAATGCCTGCTCTAAATGTATTTTCTAGTTTAAGAAATTTGAGATACATTTTTAAGGAAAGGGCAGAGGTGTGTATTTCTTTTTCAATTCATACAGACACAGCCATAAACATTTCATCAGTTAACATTATCTTACTTCTGAGATCAATTAGGTATAAAGATCTATGATTCCAGTTTTTAAAAAGACTATTTCAAATTATTCCCCATGTAAAAAATTCTACATTCACATACTCTAATGAAGGCAGCAATACTTTATGCAAAAAAAAATATACATTTATTTATAGGTCTCAATACAGCAAAATGAAAACGAAAATTGAGAACATTGCTCATTAGGCCAGCAACTTTAAAATTATTTAATTTGAAATATAAAATAGGTGGTCTTCATAAAAAGATGCATGAAATTTACCTTACCTTATATTTTATACTTTAAGAGTACATTTTATACAAATCAGTAACCAGGCTTCTTTCATGTTTAACCTGAAATGAACGTAACTATAAATGAGTATCTTTCTTTTATGTAGTAGCAAAAAGAGTCAATAATCCTTTCAAGAAAGATACTATTTCATTTCCTCCCAACTTGGATTCACCATAAACACGATCCACAAATGATATTGGAACCTAGTTTAAAAAAAAAAAAGTAACGTTAGTCTTTAAAAACAATTAGGCAGCTTAGCCGGTATACCACATTACCAACACAACAGAAATAGGATTAGTCCTACAACAGAGGTCCTTAAAGTAAGTATAAAATTAGGGGATTATGAAAGCAACTGTGTGTATCTCCAAGTCTTTAAAATTAAACATGCATTATCTAAAGATAGGTCACATGAAACAAATCTGCAACTGTTTAAAAAGCACTGATTCTAGGTATTACCTTGGTTTACTCAAGTTTCAGTTTGCATTTCAAGGAAAAATTATACTCCAAAAGTAAAATGGCCTTGTGCGTAGATTTTTCACTTGTCAAATTTAGCTACAATGGTTTAGCATTAAGTAAAATAGCTTGTAACTTCCACAAGAGAAGTGACATTCCATAGCTATTTTCTTGCTCTGAATAAGAGTTTTACTATTAAATGAGGAGAGTCTTCCCTACCCTAAGAGCTCACTAACGAGCCCTAAATATTACAGATCACCACCTCCTTGCTCTGTAATTCCTGGTCTTCTCTTACTAACAGGAAATGGACATATGGAACTCATCATTCATTTTAAAGTATGGTGGCCATTGGCGGTGACAAAAGGAAAAGAAGCAAAGAGACTCAGTCCATAATGCTGATTAGTTAGAAGAAAGGGCTAGGATTGAGAAAGTACCAGGAACTTTTAATTATTTAAAAGAGAATGCTGACTGTTAATGTTTTAAATCTTACTGTTCAAATGTACTAATATGAATTTTTACCCTTTGTGCATGAATATTCTAAACAACTAGAAGACCTCCACAATTTAGCAGTTATGAAAGTTAAACTTTTTATTATAAAAATTCTAAACCTTACTGCTCCTTTACCAGGAACATGACACACTATTTAGCATCAGTTGCATACCTCGCCAATAGTATAATTCAACTGTCTTGCCCGAACAATCATCTCCATCTGGAAGACGTAGCCTTTAGAAACACATTTTTCTATTAATTTCTCTAGAACTTCTTTTCGGTATAATCTGTAAGAAATTAAAAATATATATCAACTTCTGGATAAATACACATGCCTATGTATCCTGACCTTTCAAAGAGTTCACTGGTATGTATAAAGCCTAAAACTTTCACTGGCCATTGGTAAACAGAAAAGCTCGCACACTTGATGATTATGATACATTTGTCCTAAGCAAGAAAGGCCATTAAATATTTGCTAAATAACTTAGAATAATTGTGAAAATGAATTCTCAGTTATCTTTTTATAGAATTATTTTCCCACCATACTATCAGAAATTAGTGAAATACGGTAAAATGAATCATTTGATGCAGAACCATCCATTATTTAAGATTTCCCTAAAATTTAAAGTTGAAAGAAACTGTTCCAAATATTGAACAACAGGGTGGACAGATGATCATGAAGCAACTATATATGTTAGATGACAAGAAAGAACCTCATAATTCACAGTCATTTTCCAATAAATGTTTATGATGAGTTTTGATTTCTCATGATTTCCTTTATAAATTCCCCAGGATAAACTAAGTTGCTCTAGGATGAGCTTGGGAAGCTAGGTTAAAACAGGAACGAGGCATCACAGGATAGAAACAATCCTGGTGGGATTCACCTATCACCAGTTGAGGTCACAGTTAGACACTTAACAGTGGGTGAATGTGCAGCCTAACTTTAGATGGACTGCAGGCCAAACACCAGATTTACAAAGACAGCGGAGTTGGGCAGTCCAGTGGGTAGACCCAAGCACTTTCTTCAGTAACTAAATAGCAGGGAGCTCCGTATTTTCAGAGTCACACTTTTTTTTTTTTTTTTTTAAAGATCAGTGTCTCAGTTCATAGGGAGGCAGCAATTTCTACCTTTTTTTGTGGGGAGAGGGGAGAAAGCAAGAAGAGGCAGTTTGGTGTAACTTTGTTCTCTTCAAAGTTAAGGCCATCTGGACCTACTGTGCCTCAGGGTTTCACCCTGAATCCACATTTTTTTTCCCTCAGACTTCTAAGGCGACCTTATCTTTTGACTATGAAGTGGGTATAGGACAGCACAGC
ATTGTGTGAATAACTAAAAAGATTTAAAAGGCAAACATTATCTACTCTAGTGAGTATCTGAGAAGGCAGTACTATCTATATTAGGTTCTCTAAGGTTGTTACTTAATTTCTGCTCCACATACTTGACACTGAGAACTCAACTTTGAGTTTAGGTTAAGAAAAAATAAATTCTAACCACTCCAAAAAAACTGAGAATATTACATTTCTATTATCTTAGCTTAAAACTAATTTCACATCAAGCACTGATGAATTTTCTTCTTGTTATGAATGAGAGAAGTTTCTTCCCTAAGGAAAGCAGTTCCCTCACTGGCCAGCTGGACAGTTCTGGACATAAGGGAAACAGAACAAGAGTGGCCCTTATTGGAATGTGTACTATGGGTTCAACTATAGAAGCGTGGGAGGGGGTGGTTTTAATGTTCGAAATGACACCACAGGTTTTATAGTCTGGGATTCATTTCTGGTAGAATCTGTCAGAGAGAAATGCAAATGAAAAATCAGATTTTCATTTTTTTTTCTTTTAAAAAAGACAGGGTCTCACTCTGTTGTCCAGGCATGATCACAGCTCACTGCAGCCTTGACCTCCCAGACTCAAGTGAACCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGGTGAGTGCCACCACACCCAGCTTTTTTTATATTTTTGTAGAGACAGGATCTCCCTATGTTCCCTAGGCTGGTCTCAAATGCCTGTGCTCAAGCCATCCTCTTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGACATGGGCCATTGTGCTGGGCCTCAATTTCTTCAGCAGCCAAGTTAAGCCAGGAAAATGTAGTAATTAGGAATACTGTTCAATAAATAATTTAGAGACACCTCTTACTTTTATTTCCAGAAGAAAGTCAACTTAAACTTACTTGCTCAAAGCATGCCCTTACTCAAATTTTAAAAGATACTACATGACCATAACCTATGCTACAGTTAGAAATTAACTGATCTCTTCTGAAATACCTACTTTAGAGAAAGTGGGTAAACATAATATTTGCCCTGGCTTTATTGGATAGCTTAGCCCAAATTTTAACTGGCAGAACACTTTTCTAAATGGAGAGAAGAGCTTAAGGCAGAGATTTTTCAAATTAGTAGGGATGTGAGCTTTGCTGAGGGTCTTTAAATAATATGAAAACAAGTCTTTTGAGAAAAAAATTGTTATATAATTCAGTAAGATGTTTAAAAATTACTGTAGCAGCTAAGTTTCTGCCTCAGTGTCATTAATATTTTTCCTTACTGATAGAGGTTATTGCTCAAAAGAGAAAAAAACGGCTATGTAATCAACTGCTGTCAAATTGTTTCCCAATTCACAATATGCATTTTAAATAGACCTGCTTTGATAGATGAAATGTTTCATCAATTCAACAGCTGAAAAGAACCGAACTGTAAATGCCTGCTCTAAATGTATTTTCTAGTTTAAGAAATTTGAGATACATTTTTAAGGAAAGGGCAGAGGTGTGTATTTCTTTTTCAATTCATACAGACACAGCCATAAACATTTCATCAGTTAACATTATCTTACTTCTGAGATCAATTAGGTATAAAGATCTATGATTCCAGTTTTTAAAAAGACTATTTCAAATTATTCCCCATGTAAAAAATTCTACATTCACATACTCTAATGAAGGCAGCAATACTTTATGCAAAAAAAAATATACATTTATTTATAGGTCTCAATACAGCAAAATGAAAACGAAAATTGAGAACATTGCTCATTAGGCCAGCAACTTTAAAATTATTTAATTTGAAATATAAAATAGGTGGTCTTCATAAAAAGATGCATGAAATTTACCTTACCTTATATTTTATACTTTAAGAGTACATTTTATACAAATCAGTAACCAGGCTTCTTTCATGTTTAACCTGAAATGAACGTAACTATAAATGAGTATCTTTCTTTTATGTAGTAGCAAAAAGAGTCAATAATCCTTTCAAGAAAGATACTATTTCATTTCCTCCCAACTTGGATTCACCATAAACACGATCCACAAATGATATTGGAACCTAGTTATAAAAAAAAAAAAGTAACGTTAGTCTTTAAAAACAATTAGGCAGCTTAGCCGGTATACCACATTACCAACACAACAGAAATAGGATTAGTCCTACAACAGAGGTCCTTAAAGTAAGTATAAAATTAGGGGATTATGAAAGCAACTGTGTGTATCTCCAAGTCTTTAAAATTAAACATGCATTATCTAAAGATAGGTCACATGAAACAAATCTGCAACTGTTTAAAAAGCACTGATTCTAGGTATTACCTTGGTTTACTCAAGTTTCAGTTTGCATTTCAAGGAAAAATTATACTCCAAAAGTAAAATGGCCTTGTGCGTAGATTTTTCACTTGTCAAATTTAGCTACAATGGTTTAGCATTAAGTAAAATAGCTTGTAACTTCCACAAGAGAAGTGACATTCCATAGCTATTTTCTTGCTCTGAATAAGAGTTTTACTATTAAATGAGGAGAGTCTTCCCTACCCTAAGAGCTCACTAACGAGCCCTAAATATTACAGATCACCACCTCCTTGCTCTGTAATTCCTGGTCTTCTCTTACTAACAGGAAATGGACATATGGAACTCATCATTCATTTTAAAGTATGGTGGCCATTGGCGGTGACAAAAGGAAAAGAAGCAAAGAGACTCAGTCCATAATGCTGATTAGTTAGAAGAAAGGGCTAGGATTGAGAAAGTACCAGGAACTTTTAATTATTTAAAAGAGAATGCTGACTGTTAATGTTTTAAATCTTACTGTTCAAATGTACTAATATGAATTTTTACCCTTTGTGCATGAATATTCTAAACAACTAGAAGACCTCCACAATTTAGCAGTTATGAAAGTTAAACTTTTTATTATAAAAATTCTAAACCTTACTGCTCCTTTACCAGGAACATGACACACTATTTAGCATCAGTTGCATACCTCGCCAATAGTATAATTCAACTGTCTTGCCCGAACAATCATCTCCATCTGGAAGACGTAGCCTTTAGAAACACATTTTTCTATTAATTTCTCTAGAACTTCTTTTCGGTATAATCTGTAAGAAATTAAAAATATATATCAACTTCTGGATAAATACACATGCCTATGTATCCTGACCTTTCAAAGAGTTCACTGGTATGTATAAAGCCTAAAACTTTCACTGGCCATTGGTAAACAGAAAAGCTCGCACACTTGATGATTATGATACATTTGTCCTAAGCAAGAAAGGCCATTAAATATTTGCTAAATAACTTAGAATAATTGTGAAAATGAATTCTCAGTTATCTTTTTATAGAATTATTTTCCCACCATACTATCAGAAATTAGTGAAATACGGTAAAATGAATCATTTGATGCAGAACCATCCATTATTTAAGATTTCCCTAAAATTTAAAGTTGAAAGAAACTGTTCCAAATATTGAACAACAGGGTGGACAGATGATCATGAAGCAACTATATATGTTAGATGACAAGAAAGAACCTCATAATTCACAGTCATTTTCCAATAAATGTTTATGATGAGTTTTGATTTCTCATGATTTCCTTTATAAATTCCCCAGGATAAACTAAGTTGCTCTAGGATGAGCTTGGGAAGCTAGGTTAAAACAGGAACGAGGCATCACAGGATAGAAACAATCCTGGTGGGATTCACCTATCACCAGTTGAGGTCACAGTTAGACACTTAACAGTGGGTGAATGTGCAGCCTAACTTTAGATGGACTGCAGGCCAAACACCAGATTTACAAAGACAGCGGAGTTGGGCAGTCCAGTGGGTAGACCCAAGCACTTTCTTCAGTAACTAAATAGCAGGGAGCTCCGTATTTTCAGAGTCACACTTTTTTTTTTTTTTTTTTAAAGATCAGTGTCTCAGTTCATAGGGAGGCAGCAATTTCTACCTTTTTTTGTGGGGAGAGGGGAGAAAGCAAGAAGAGGCAGTTTGGTGTAACTTTGTTCTCTTCAAAGTTAAGGCCATCTGGACCTACTGTGCCTCAGGGTTTCACCCTGAATCCACATTTTTTTTCCCTCAGACTTCTAAGGCGACCTTATCTTTTGACTATGAAGTGGGTATAGGACAGCACAG
benign
314,775
Clinical impact (benign or pathogenic) of the variant at chromosome 20, location 50935242, gene DPM1: what disease(s) if pathogenic?
benign
ATTGTGTGAATAACTAAAAAGATTTAAAAGGCAAACATTATCTACTCTAGTGAGTATCTGAGAAGGCAGTACTATCTATATTAGGTTCTCTAAGGTTGTTACTTAATTTCTGCTCCACATACTTGACACTGAGAACTCAACTTTGAGTTTAGGTTAAGAAAAAATAAATTCTAACCACTCCAAAAAAACTGAGAATATTACATTTCTATTATCTTAGCTTAAAACTAATTTCACATCAAGCACTGATGAATTTTCTTCTTGTTATGAATGAGAGAAGTTTCTTCCCTAAGGAAAGCAGTTCCCTCACTGGCCAGCTGGACAGTTCTGGACATAAGGGAAACAGAACAAGAGTGGCCCTTATTGGAATGTGTACTATGGGTTCAACTATAGAAGCGTGGGAGGGGGTGGTTTTAATGTTCGAAATGACACCACAGGTTTTATAGTCTGGGATTCATTTCTGGTAGAATCTGTCAGAGAGAAATGCAAATGAAAAATCAGATTTTCATTTTTTTTTCTTTTAAAAAAGACAGGGTCTCACTCTGTTGTCCAGGCATGATCACAGCTCACTGCAGCCTTGACCTCCCAGACTCAAGTGAACCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGGTGAGTGCCACCACACCCAGCTTTTTTTATATTTTTGTAGAGACAGGATCTCCCTATGTTCCCTAGGCTGGTCTCAAATGCCTGTGCTCAAGCCATCCTCTTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGACATGGGCCATTGTGCTGGGCCTCAATTTCTTCAGCAGCCAAGTTAAGCCAGGAAAATGTAGTAATTAGGAATACTGTTCAATAAATAATTTAGAGACACCTCTTACTTTTATTTCCAGAAGAAAGTCAACTTAAACTTACTTGCTCAAAGCATGCCCTTACTCAAATTTTAAAAGATACTACATGACCATAACCTATGCTACAGTTAGAAATTAACTGATCTCTTCTGAAATACCTACTTTAGAGAAAGTGGGTAAACATAATATTTGCCCTGGCTTTATTGGATAGCTTAGCCCAAATTTTAACTGGCAGAACACTTTTCTAAATGGAGAGAAGAGCTTAAGGCAGAGATTTTTCAAATTAGTAGGGATGTGAGCTTTGCTGAGGGTCTTTAAATAATATGAAAACAAGTCTTTTGAGAAAAAAATTGTTATATAATTCAGTAAGATGTTTAAAAATTACTGTAGCAGCTAAGTTTCTGCCTCAGTGTCATTAATATTTTTCCTTACTGATAGAGGTTATTGCTCAAAAGAGAAAAAAACGGCTATGTAATCAACTGCTGTCAAATTGTTTCCCAATTCACAATATGCATTTTAAATAGACCTGCTTTGATAGATGAAATGTTTCATCAATTCAACAGCTGAAAAGAACCGAACTGTAAATGCCTGCTCTAAATGTATTTTCTAGTTTAAGAAATTTGAGATACATTTTTAAGGAAAGGGCAGAGGTGTGTATTTCTTTTTCAATTCATACAGACACAGCCATAAACATTTCATCAGTTAACATTATCTTACTTCTGAGATCAATTAGGTATAAAGATCTATGATTCCAGTTTTTAAAAAGACTATTTCAAATTATTCCCCATGTAAAAAATTCTACATTCACATACTCTAATGAAGGCAGCAATACTTTATGCAAAAAAAAATATACATTTATTTATAGGTCTCAATACAGCAAAATGAAAACGAAAATTGAGAACATTGCTCATTAGGCCAGCAACTTTAAAATTATTTAATTTGAAATATAAAATAGGTGGTCTTCATAAAAAGATGCATGAAATTTACCTTACCTTATATTTTATACTTTAAGAGTACATTTTATACAAATCAGTAACCAGGCTTCTTTCATGTTTAACCTGAAATGAACGTAACTATAAATGAGTATCTTTCTTTTATGTAGTAGCAAAAAGAGTCAATAATCCTTTCAAGAAAGATACTATTTCATTTCCTCCCAACTTGGATTCACCATAAACACGATCCACAAATGATATTGGAACCTAGTTTAAAAAAAAAAAAGTAACGTTAGTCTTTAAAAACAATTAGGCAGCTTAGCCGGTATACCACATTACCAACACAACAGAAATAGGATTAGTCCTACAACAGAGGTCCTTAAAGTAAGTATAAAATTAGGGGATTATGAAAGCAACTGTGTGTATCTCCAAGTCTTTAAAATTAAACATGCATTATCTAAAGATAGGTCACATGAAACAAATCTGCAACTGTTTAAAAAGCACTGATTCTAGGTATTACCTTGGTTTACTCAAGTTTCAGTTTGCATTTCAAGGAAAAATTATACTCCAAAAGTAAAATGGCCTTGTGCGTAGATTTTTCACTTGTCAAATTTAGCTACAATGGTTTAGCATTAAGTAAAATAGCTTGTAACTTCCACAAGAGAAGTGACATTCCATAGCTATTTTCTTGCTCTGAATAAGAGTTTTACTATTAAATGAGGAGAGTCTTCCCTACCCTAAGAGCTCACTAACGAGCCCTAAATATTACAGATCACCACCTCCTTGCTCTGTAATTCCTGGTCTTCTCTTACTAACAGGAAATGGACATATGGAACTCATCATTCATTTTAAAGTATGGTGGCCATTGGCGGTGACAAAAGGAAAAGAAGCAAAGAGACTCAGTCCATAATGCTGATTAGTTAGAAGAAAGGGCTAGGATTGAGAAAGTACCAGGAACTTTTAATTATTTAAAAGAGAATGCTGACTGTTAATGTTTTAAATCTTACTGTTCAAATGTACTAATATGAATTTTTACCCTTTGTGCATGAATATTCTAAACAACTAGAAGACCTCCACAATTTAGCAGTTATGAAAGTTAAACTTTTTATTATAAAAATTCTAAACCTTACTGCTCCTTTACCAGGAACATGACACACTATTTAGCATCAGTTGCATACCTCGCCAATAGTATAATTCAACTGTCTTGCCCGAACAATCATCTCCATCTGGAAGACGTAGCCTTTAGAAACACATTTTTCTATTAATTTCTCTAGAACTTCTTTTCGGTATAATCTGTAAGAAATTAAAAATATATATCAACTTCTGGATAAATACACATGCCTATGTATCCTGACCTTTCAAAGAGTTCACTGGTATGTATAAAGCCTAAAACTTTCACTGGCCATTGGTAAACAGAAAAGCTCGCACACTTGATGATTATGATACATTTGTCCTAAGCAAGAAAGGCCATTAAATATTTGCTAAATAACTTAGAATAATTGTGAAAATGAATTCTCAGTTATCTTTTTATAGAATTATTTTCCCACCATACTATCAGAAATTAGTGAAATACGGTAAAATGAATCATTTGATGCAGAACCATCCATTATTTAAGATTTCCCTAAAATTTAAAGTTGAAAGAAACTGTTCCAAATATTGAACAACAGGGTGGACAGATGATCATGAAGCAACTATATATGTTAGATGACAAGAAAGAACCTCATAATTCACAGTCATTTTCCAATAAATGTTTATGATGAGTTTTGATTTCTCATGATTTCCTTTATAAATTCCCCAGGATAAACTAAGTTGCTCTAGGATGAGCTTGGGAAGCTAGGTTAAAACAGGAACGAGGCATCACAGGATAGAAACAATCCTGGTGGGATTCACCTATCACCAGTTGAGGTCACAGTTAGACACTTAACAGTGGGTGAATGTGCAGCCTAACTTTAGATGGACTGCAGGCCAAACACCAGATTTACAAAGACAGCGGAGTTGGGCAGTCCAGTGGGTAGACCCAAGCACTTTCTTCAGTAACTAAATAGCAGGGAGCTCCGTATTTTCAGAGTCACACTTTTTTTTTTTTTTTTTTAAAGATCAGTGTCTCAGTTCATAGGGAGGCAGCAATTTCTACCTTTTTTTGTGGGGAGAGGGGAGAAAGCAAGAAGAGGCAGTTTGGTGTAACTTTGTTCTCTTCAAAGTTAAGGCCATCTGGACCTACTGTGCCTCAGGGTTTCACCCTGAATCCACATTTTTTTTCCCTCAGACTTCTAAGGCGACCTTATCTTTTGACTATGAAGTGGGTATAGGACAGCACAGC
ATTGTGTGAATAACTAAAAAGATTTAAAAGGCAAACATTATCTACTCTAGTGAGTATCTGAGAAGGCAGTACTATCTATATTAGGTTCTCTAAGGTTGTTACTTAATTTCTGCTCCACATACTTGACACTGAGAACTCAACTTTGAGTTTAGGTTAAGAAAAAATAAATTCTAACCACTCCAAAAAAACTGAGAATATTACATTTCTATTATCTTAGCTTAAAACTAATTTCACATCAAGCACTGATGAATTTTCTTCTTGTTATGAATGAGAGAAGTTTCTTCCCTAAGGAAAGCAGTTCCCTCACTGGCCAGCTGGACAGTTCTGGACATAAGGGAAACAGAACAAGAGTGGCCCTTATTGGAATGTGTACTATGGGTTCAACTATAGAAGCGTGGGAGGGGGTGGTTTTAATGTTCGAAATGACACCACAGGTTTTATAGTCTGGGATTCATTTCTGGTAGAATCTGTCAGAGAGAAATGCAAATGAAAAATCAGATTTTCATTTTTTTTTCTTTTAAAAAAGACAGGGTCTCACTCTGTTGTCCAGGCATGATCACAGCTCACTGCAGCCTTGACCTCCCAGACTCAAGTGAACCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGGTGAGTGCCACCACACCCAGCTTTTTTTATATTTTTGTAGAGACAGGATCTCCCTATGTTCCCTAGGCTGGTCTCAAATGCCTGTGCTCAAGCCATCCTCTTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGACATGGGCCATTGTGCTGGGCCTCAATTTCTTCAGCAGCCAAGTTAAGCCAGGAAAATGTAGTAATTAGGAATACTGTTCAATAAATAATTTAGAGACACCTCTTACTTTTATTTCCAGAAGAAAGTCAACTTAAACTTACTTGCTCAAAGCATGCCCTTACTCAAATTTTAAAAGATACTACATGACCATAACCTATGCTACAGTTAGAAATTAACTGATCTCTTCTGAAATACCTACTTTAGAGAAAGTGGGTAAACATAATATTTGCCCTGGCTTTATTGGATAGCTTAGCCCAAATTTTAACTGGCAGAACACTTTTCTAAATGGAGAGAAGAGCTTAAGGCAGAGATTTTTCAAATTAGTAGGGATGTGAGCTTTGCTGAGGGTCTTTAAATAATATGAAAACAAGTCTTTTGAGAAAAAAATTGTTATATAATTCAGTAAGATGTTTAAAAATTACTGTAGCAGCTAAGTTTCTGCCTCAGTGTCATTAATATTTTTCCTTACTGATAGAGGTTATTGCTCAAAAGAGAAAAAAACGGCTATGTAATCAACTGCTGTCAAATTGTTTCCCAATTCACAATATGCATTTTAAATAGACCTGCTTTGATAGATGAAATGTTTCATCAATTCAACAGCTGAAAAGAACCGAACTGTAAATGCCTGCTCTAAATGTATTTTCTAGTTTAAGAAATTTGAGATACATTTTTAAGGAAAGGGCAGAGGTGTGTATTTCTTTTTCAATTCATACAGACACAGCCATAAACATTTCATCAGTTAACATTATCTTACTTCTGAGATCAATTAGGTATAAAGATCTATGATTCCAGTTTTTAAAAAGACTATTTCAAATTATTCCCCATGTAAAAAATTCTACATTCACATACTCTAATGAAGGCAGCAATACTTTATGCAAAAAAAAATATACATTTATTTATAGGTCTCAATACAGCAAAATGAAAACGAAAATTGAGAACATTGCTCATTAGGCCAGCAACTTTAAAATTATTTAATTTGAAATATAAAATAGGTGGTCTTCATAAAAAGATGCATGAAATTTACCTTACCTTATATTTTATACTTTAAGAGTACATTTTATACAAATCAGTAACCAGGCTTCTTTCATGTTTAACCTGAAATGAACGTAACTATAAATGAGTATCTTTCTTTTATGTAGTAGCAAAAAGAGTCAATAATCCTTTCAAGAAAGATACTATTTCATTTCCTCCCAACTTGGATTCACCATAAACACGATCCACAAATGATATTGGAACCTAGTTAATAAAAAAAAAAAAGTAACGTTAGTCTTTAAAAACAATTAGGCAGCTTAGCCGGTATACCACATTACCAACACAACAGAAATAGGATTAGTCCTACAACAGAGGTCCTTAAAGTAAGTATAAAATTAGGGGATTATGAAAGCAACTGTGTGTATCTCCAAGTCTTTAAAATTAAACATGCATTATCTAAAGATAGGTCACATGAAACAAATCTGCAACTGTTTAAAAAGCACTGATTCTAGGTATTACCTTGGTTTACTCAAGTTTCAGTTTGCATTTCAAGGAAAAATTATACTCCAAAAGTAAAATGGCCTTGTGCGTAGATTTTTCACTTGTCAAATTTAGCTACAATGGTTTAGCATTAAGTAAAATAGCTTGTAACTTCCACAAGAGAAGTGACATTCCATAGCTATTTTCTTGCTCTGAATAAGAGTTTTACTATTAAATGAGGAGAGTCTTCCCTACCCTAAGAGCTCACTAACGAGCCCTAAATATTACAGATCACCACCTCCTTGCTCTGTAATTCCTGGTCTTCTCTTACTAACAGGAAATGGACATATGGAACTCATCATTCATTTTAAAGTATGGTGGCCATTGGCGGTGACAAAAGGAAAAGAAGCAAAGAGACTCAGTCCATAATGCTGATTAGTTAGAAGAAAGGGCTAGGATTGAGAAAGTACCAGGAACTTTTAATTATTTAAAAGAGAATGCTGACTGTTAATGTTTTAAATCTTACTGTTCAAATGTACTAATATGAATTTTTACCCTTTGTGCATGAATATTCTAAACAACTAGAAGACCTCCACAATTTAGCAGTTATGAAAGTTAAACTTTTTATTATAAAAATTCTAAACCTTACTGCTCCTTTACCAGGAACATGACACACTATTTAGCATCAGTTGCATACCTCGCCAATAGTATAATTCAACTGTCTTGCCCGAACAATCATCTCCATCTGGAAGACGTAGCCTTTAGAAACACATTTTTCTATTAATTTCTCTAGAACTTCTTTTCGGTATAATCTGTAAGAAATTAAAAATATATATCAACTTCTGGATAAATACACATGCCTATGTATCCTGACCTTTCAAAGAGTTCACTGGTATGTATAAAGCCTAAAACTTTCACTGGCCATTGGTAAACAGAAAAGCTCGCACACTTGATGATTATGATACATTTGTCCTAAGCAAGAAAGGCCATTAAATATTTGCTAAATAACTTAGAATAATTGTGAAAATGAATTCTCAGTTATCTTTTTATAGAATTATTTTCCCACCATACTATCAGAAATTAGTGAAATACGGTAAAATGAATCATTTGATGCAGAACCATCCATTATTTAAGATTTCCCTAAAATTTAAAGTTGAAAGAAACTGTTCCAAATATTGAACAACAGGGTGGACAGATGATCATGAAGCAACTATATATGTTAGATGACAAGAAAGAACCTCATAATTCACAGTCATTTTCCAATAAATGTTTATGATGAGTTTTGATTTCTCATGATTTCCTTTATAAATTCCCCAGGATAAACTAAGTTGCTCTAGGATGAGCTTGGGAAGCTAGGTTAAAACAGGAACGAGGCATCACAGGATAGAAACAATCCTGGTGGGATTCACCTATCACCAGTTGAGGTCACAGTTAGACACTTAACAGTGGGTGAATGTGCAGCCTAACTTTAGATGGACTGCAGGCCAAACACCAGATTTACAAAGACAGCGGAGTTGGGCAGTCCAGTGGGTAGACCCAAGCACTTTCTTCAGTAACTAAATAGCAGGGAGCTCCGTATTTTCAGAGTCACACTTTTTTTTTTTTTTTTTTAAAGATCAGTGTCTCAGTTCATAGGGAGGCAGCAATTTCTACCTTTTTTTGTGGGGAGAGGGGAGAAAGCAAGAAGAGGCAGTTTGGTGTAACTTTGTTCTCTTCAAAGTTAAGGCCATCTGGACCTACTGTGCCTCAGGGTTTCACCCTGAATCCACATTTTTTTTCCCTCAGACTTCTAAGGCGACCTTATCTTTTGACTATGAAGTGGGTATAGGACAGCACA
benign
314,776
Chromosome 20, position 50935243, gene DPM1: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
benign
TTGTGTGAATAACTAAAAAGATTTAAAAGGCAAACATTATCTACTCTAGTGAGTATCTGAGAAGGCAGTACTATCTATATTAGGTTCTCTAAGGTTGTTACTTAATTTCTGCTCCACATACTTGACACTGAGAACTCAACTTTGAGTTTAGGTTAAGAAAAAATAAATTCTAACCACTCCAAAAAAACTGAGAATATTACATTTCTATTATCTTAGCTTAAAACTAATTTCACATCAAGCACTGATGAATTTTCTTCTTGTTATGAATGAGAGAAGTTTCTTCCCTAAGGAAAGCAGTTCCCTCACTGGCCAGCTGGACAGTTCTGGACATAAGGGAAACAGAACAAGAGTGGCCCTTATTGGAATGTGTACTATGGGTTCAACTATAGAAGCGTGGGAGGGGGTGGTTTTAATGTTCGAAATGACACCACAGGTTTTATAGTCTGGGATTCATTTCTGGTAGAATCTGTCAGAGAGAAATGCAAATGAAAAATCAGATTTTCATTTTTTTTTCTTTTAAAAAAGACAGGGTCTCACTCTGTTGTCCAGGCATGATCACAGCTCACTGCAGCCTTGACCTCCCAGACTCAAGTGAACCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGGTGAGTGCCACCACACCCAGCTTTTTTTATATTTTTGTAGAGACAGGATCTCCCTATGTTCCCTAGGCTGGTCTCAAATGCCTGTGCTCAAGCCATCCTCTTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGACATGGGCCATTGTGCTGGGCCTCAATTTCTTCAGCAGCCAAGTTAAGCCAGGAAAATGTAGTAATTAGGAATACTGTTCAATAAATAATTTAGAGACACCTCTTACTTTTATTTCCAGAAGAAAGTCAACTTAAACTTACTTGCTCAAAGCATGCCCTTACTCAAATTTTAAAAGATACTACATGACCATAACCTATGCTACAGTTAGAAATTAACTGATCTCTTCTGAAATACCTACTTTAGAGAAAGTGGGTAAACATAATATTTGCCCTGGCTTTATTGGATAGCTTAGCCCAAATTTTAACTGGCAGAACACTTTTCTAAATGGAGAGAAGAGCTTAAGGCAGAGATTTTTCAAATTAGTAGGGATGTGAGCTTTGCTGAGGGTCTTTAAATAATATGAAAACAAGTCTTTTGAGAAAAAAATTGTTATATAATTCAGTAAGATGTTTAAAAATTACTGTAGCAGCTAAGTTTCTGCCTCAGTGTCATTAATATTTTTCCTTACTGATAGAGGTTATTGCTCAAAAGAGAAAAAAACGGCTATGTAATCAACTGCTGTCAAATTGTTTCCCAATTCACAATATGCATTTTAAATAGACCTGCTTTGATAGATGAAATGTTTCATCAATTCAACAGCTGAAAAGAACCGAACTGTAAATGCCTGCTCTAAATGTATTTTCTAGTTTAAGAAATTTGAGATACATTTTTAAGGAAAGGGCAGAGGTGTGTATTTCTTTTTCAATTCATACAGACACAGCCATAAACATTTCATCAGTTAACATTATCTTACTTCTGAGATCAATTAGGTATAAAGATCTATGATTCCAGTTTTTAAAAAGACTATTTCAAATTATTCCCCATGTAAAAAATTCTACATTCACATACTCTAATGAAGGCAGCAATACTTTATGCAAAAAAAAATATACATTTATTTATAGGTCTCAATACAGCAAAATGAAAACGAAAATTGAGAACATTGCTCATTAGGCCAGCAACTTTAAAATTATTTAATTTGAAATATAAAATAGGTGGTCTTCATAAAAAGATGCATGAAATTTACCTTACCTTATATTTTATACTTTAAGAGTACATTTTATACAAATCAGTAACCAGGCTTCTTTCATGTTTAACCTGAAATGAACGTAACTATAAATGAGTATCTTTCTTTTATGTAGTAGCAAAAAGAGTCAATAATCCTTTCAAGAAAGATACTATTTCATTTCCTCCCAACTTGGATTCACCATAAACACGATCCACAAATGATATTGGAACCTAGTTTAAAAAAAAAAAAGTAACGTTAGTCTTTAAAAACAATTAGGCAGCTTAGCCGGTATACCACATTACCAACACAACAGAAATAGGATTAGTCCTACAACAGAGGTCCTTAAAGTAAGTATAAAATTAGGGGATTATGAAAGCAACTGTGTGTATCTCCAAGTCTTTAAAATTAAACATGCATTATCTAAAGATAGGTCACATGAAACAAATCTGCAACTGTTTAAAAAGCACTGATTCTAGGTATTACCTTGGTTTACTCAAGTTTCAGTTTGCATTTCAAGGAAAAATTATACTCCAAAAGTAAAATGGCCTTGTGCGTAGATTTTTCACTTGTCAAATTTAGCTACAATGGTTTAGCATTAAGTAAAATAGCTTGTAACTTCCACAAGAGAAGTGACATTCCATAGCTATTTTCTTGCTCTGAATAAGAGTTTTACTATTAAATGAGGAGAGTCTTCCCTACCCTAAGAGCTCACTAACGAGCCCTAAATATTACAGATCACCACCTCCTTGCTCTGTAATTCCTGGTCTTCTCTTACTAACAGGAAATGGACATATGGAACTCATCATTCATTTTAAAGTATGGTGGCCATTGGCGGTGACAAAAGGAAAAGAAGCAAAGAGACTCAGTCCATAATGCTGATTAGTTAGAAGAAAGGGCTAGGATTGAGAAAGTACCAGGAACTTTTAATTATTTAAAAGAGAATGCTGACTGTTAATGTTTTAAATCTTACTGTTCAAATGTACTAATATGAATTTTTACCCTTTGTGCATGAATATTCTAAACAACTAGAAGACCTCCACAATTTAGCAGTTATGAAAGTTAAACTTTTTATTATAAAAATTCTAAACCTTACTGCTCCTTTACCAGGAACATGACACACTATTTAGCATCAGTTGCATACCTCGCCAATAGTATAATTCAACTGTCTTGCCCGAACAATCATCTCCATCTGGAAGACGTAGCCTTTAGAAACACATTTTTCTATTAATTTCTCTAGAACTTCTTTTCGGTATAATCTGTAAGAAATTAAAAATATATATCAACTTCTGGATAAATACACATGCCTATGTATCCTGACCTTTCAAAGAGTTCACTGGTATGTATAAAGCCTAAAACTTTCACTGGCCATTGGTAAACAGAAAAGCTCGCACACTTGATGATTATGATACATTTGTCCTAAGCAAGAAAGGCCATTAAATATTTGCTAAATAACTTAGAATAATTGTGAAAATGAATTCTCAGTTATCTTTTTATAGAATTATTTTCCCACCATACTATCAGAAATTAGTGAAATACGGTAAAATGAATCATTTGATGCAGAACCATCCATTATTTAAGATTTCCCTAAAATTTAAAGTTGAAAGAAACTGTTCCAAATATTGAACAACAGGGTGGACAGATGATCATGAAGCAACTATATATGTTAGATGACAAGAAAGAACCTCATAATTCACAGTCATTTTCCAATAAATGTTTATGATGAGTTTTGATTTCTCATGATTTCCTTTATAAATTCCCCAGGATAAACTAAGTTGCTCTAGGATGAGCTTGGGAAGCTAGGTTAAAACAGGAACGAGGCATCACAGGATAGAAACAATCCTGGTGGGATTCACCTATCACCAGTTGAGGTCACAGTTAGACACTTAACAGTGGGTGAATGTGCAGCCTAACTTTAGATGGACTGCAGGCCAAACACCAGATTTACAAAGACAGCGGAGTTGGGCAGTCCAGTGGGTAGACCCAAGCACTTTCTTCAGTAACTAAATAGCAGGGAGCTCCGTATTTTCAGAGTCACACTTTTTTTTTTTTTTTTTTAAAGATCAGTGTCTCAGTTCATAGGGAGGCAGCAATTTCTACCTTTTTTTGTGGGGAGAGGGGAGAAAGCAAGAAGAGGCAGTTTGGTGTAACTTTGTTCTCTTCAAAGTTAAGGCCATCTGGACCTACTGTGCCTCAGGGTTTCACCCTGAATCCACATTTTTTTTCCCTCAGACTTCTAAGGCGACCTTATCTTTTGACTATGAAGTGGGTATAGGACAGCACAGCC
TTGTGTGAATAACTAAAAAGATTTAAAAGGCAAACATTATCTACTCTAGTGAGTATCTGAGAAGGCAGTACTATCTATATTAGGTTCTCTAAGGTTGTTACTTAATTTCTGCTCCACATACTTGACACTGAGAACTCAACTTTGAGTTTAGGTTAAGAAAAAATAAATTCTAACCACTCCAAAAAAACTGAGAATATTACATTTCTATTATCTTAGCTTAAAACTAATTTCACATCAAGCACTGATGAATTTTCTTCTTGTTATGAATGAGAGAAGTTTCTTCCCTAAGGAAAGCAGTTCCCTCACTGGCCAGCTGGACAGTTCTGGACATAAGGGAAACAGAACAAGAGTGGCCCTTATTGGAATGTGTACTATGGGTTCAACTATAGAAGCGTGGGAGGGGGTGGTTTTAATGTTCGAAATGACACCACAGGTTTTATAGTCTGGGATTCATTTCTGGTAGAATCTGTCAGAGAGAAATGCAAATGAAAAATCAGATTTTCATTTTTTTTTCTTTTAAAAAAGACAGGGTCTCACTCTGTTGTCCAGGCATGATCACAGCTCACTGCAGCCTTGACCTCCCAGACTCAAGTGAACCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGGTGAGTGCCACCACACCCAGCTTTTTTTATATTTTTGTAGAGACAGGATCTCCCTATGTTCCCTAGGCTGGTCTCAAATGCCTGTGCTCAAGCCATCCTCTTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGACATGGGCCATTGTGCTGGGCCTCAATTTCTTCAGCAGCCAAGTTAAGCCAGGAAAATGTAGTAATTAGGAATACTGTTCAATAAATAATTTAGAGACACCTCTTACTTTTATTTCCAGAAGAAAGTCAACTTAAACTTACTTGCTCAAAGCATGCCCTTACTCAAATTTTAAAAGATACTACATGACCATAACCTATGCTACAGTTAGAAATTAACTGATCTCTTCTGAAATACCTACTTTAGAGAAAGTGGGTAAACATAATATTTGCCCTGGCTTTATTGGATAGCTTAGCCCAAATTTTAACTGGCAGAACACTTTTCTAAATGGAGAGAAGAGCTTAAGGCAGAGATTTTTCAAATTAGTAGGGATGTGAGCTTTGCTGAGGGTCTTTAAATAATATGAAAACAAGTCTTTTGAGAAAAAAATTGTTATATAATTCAGTAAGATGTTTAAAAATTACTGTAGCAGCTAAGTTTCTGCCTCAGTGTCATTAATATTTTTCCTTACTGATAGAGGTTATTGCTCAAAAGAGAAAAAAACGGCTATGTAATCAACTGCTGTCAAATTGTTTCCCAATTCACAATATGCATTTTAAATAGACCTGCTTTGATAGATGAAATGTTTCATCAATTCAACAGCTGAAAAGAACCGAACTGTAAATGCCTGCTCTAAATGTATTTTCTAGTTTAAGAAATTTGAGATACATTTTTAAGGAAAGGGCAGAGGTGTGTATTTCTTTTTCAATTCATACAGACACAGCCATAAACATTTCATCAGTTAACATTATCTTACTTCTGAGATCAATTAGGTATAAAGATCTATGATTCCAGTTTTTAAAAAGACTATTTCAAATTATTCCCCATGTAAAAAATTCTACATTCACATACTCTAATGAAGGCAGCAATACTTTATGCAAAAAAAAATATACATTTATTTATAGGTCTCAATACAGCAAAATGAAAACGAAAATTGAGAACATTGCTCATTAGGCCAGCAACTTTAAAATTATTTAATTTGAAATATAAAATAGGTGGTCTTCATAAAAAGATGCATGAAATTTACCTTACCTTATATTTTATACTTTAAGAGTACATTTTATACAAATCAGTAACCAGGCTTCTTTCATGTTTAACCTGAAATGAACGTAACTATAAATGAGTATCTTTCTTTTATGTAGTAGCAAAAAGAGTCAATAATCCTTTCAAGAAAGATACTATTTCATTTCCTCCCAACTTGGATTCACCATAAACACGATCCACAAATGATATTGGAACCTAGTTTAAAAAAAAAAAAAGTAACGTTAGTCTTTAAAAACAATTAGGCAGCTTAGCCGGTATACCACATTACCAACACAACAGAAATAGGATTAGTCCTACAACAGAGGTCCTTAAAGTAAGTATAAAATTAGGGGATTATGAAAGCAACTGTGTGTATCTCCAAGTCTTTAAAATTAAACATGCATTATCTAAAGATAGGTCACATGAAACAAATCTGCAACTGTTTAAAAAGCACTGATTCTAGGTATTACCTTGGTTTACTCAAGTTTCAGTTTGCATTTCAAGGAAAAATTATACTCCAAAAGTAAAATGGCCTTGTGCGTAGATTTTTCACTTGTCAAATTTAGCTACAATGGTTTAGCATTAAGTAAAATAGCTTGTAACTTCCACAAGAGAAGTGACATTCCATAGCTATTTTCTTGCTCTGAATAAGAGTTTTACTATTAAATGAGGAGAGTCTTCCCTACCCTAAGAGCTCACTAACGAGCCCTAAATATTACAGATCACCACCTCCTTGCTCTGTAATTCCTGGTCTTCTCTTACTAACAGGAAATGGACATATGGAACTCATCATTCATTTTAAAGTATGGTGGCCATTGGCGGTGACAAAAGGAAAAGAAGCAAAGAGACTCAGTCCATAATGCTGATTAGTTAGAAGAAAGGGCTAGGATTGAGAAAGTACCAGGAACTTTTAATTATTTAAAAGAGAATGCTGACTGTTAATGTTTTAAATCTTACTGTTCAAATGTACTAATATGAATTTTTACCCTTTGTGCATGAATATTCTAAACAACTAGAAGACCTCCACAATTTAGCAGTTATGAAAGTTAAACTTTTTATTATAAAAATTCTAAACCTTACTGCTCCTTTACCAGGAACATGACACACTATTTAGCATCAGTTGCATACCTCGCCAATAGTATAATTCAACTGTCTTGCCCGAACAATCATCTCCATCTGGAAGACGTAGCCTTTAGAAACACATTTTTCTATTAATTTCTCTAGAACTTCTTTTCGGTATAATCTGTAAGAAATTAAAAATATATATCAACTTCTGGATAAATACACATGCCTATGTATCCTGACCTTTCAAAGAGTTCACTGGTATGTATAAAGCCTAAAACTTTCACTGGCCATTGGTAAACAGAAAAGCTCGCACACTTGATGATTATGATACATTTGTCCTAAGCAAGAAAGGCCATTAAATATTTGCTAAATAACTTAGAATAATTGTGAAAATGAATTCTCAGTTATCTTTTTATAGAATTATTTTCCCACCATACTATCAGAAATTAGTGAAATACGGTAAAATGAATCATTTGATGCAGAACCATCCATTATTTAAGATTTCCCTAAAATTTAAAGTTGAAAGAAACTGTTCCAAATATTGAACAACAGGGTGGACAGATGATCATGAAGCAACTATATATGTTAGATGACAAGAAAGAACCTCATAATTCACAGTCATTTTCCAATAAATGTTTATGATGAGTTTTGATTTCTCATGATTTCCTTTATAAATTCCCCAGGATAAACTAAGTTGCTCTAGGATGAGCTTGGGAAGCTAGGTTAAAACAGGAACGAGGCATCACAGGATAGAAACAATCCTGGTGGGATTCACCTATCACCAGTTGAGGTCACAGTTAGACACTTAACAGTGGGTGAATGTGCAGCCTAACTTTAGATGGACTGCAGGCCAAACACCAGATTTACAAAGACAGCGGAGTTGGGCAGTCCAGTGGGTAGACCCAAGCACTTTCTTCAGTAACTAAATAGCAGGGAGCTCCGTATTTTCAGAGTCACACTTTTTTTTTTTTTTTTTTAAAGATCAGTGTCTCAGTTCATAGGGAGGCAGCAATTTCTACCTTTTTTTGTGGGGAGAGGGGAGAAAGCAAGAAGAGGCAGTTTGGTGTAACTTTGTTCTCTTCAAAGTTAAGGCCATCTGGACCTACTGTGCCTCAGGGTTTCACCCTGAATCCACATTTTTTTTCCCTCAGACTTCTAAGGCGACCTTATCTTTTGACTATGAAGTGGGTATAGGACAGCACAGC
benign
314,778
The genetic variant at chromosome 20, position 50945875, affecting gene DPM1 (dolichyl-phosphate mannosyltransferase subunit 1, catalytic): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Congenital_disorder_of_glycosylation_type_1E', 'Inborn_genetic_diseases']
CCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCACACCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTCACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCCCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAAGCCTGAGTATTTTTAATTCTAACACATATTTTCCCAAATTTGAACACATATTTTCCAAAAGGGTTATAGCAACTTATACTTCCTTCAGCAATATTTGTGTGTCCATTTTTTACCATCTTATTGGTACTGGATATTACTACTGCTCTAAAAGTTTTTAACTTTGTTAAACTAATGGATAATAAAATGGTCACACACAGTTATTTTGTGTTTATTTCCTTGACTACATCCCAGGAAGAACGTCTTCTTTTATTAGCCATTTGGATTTCTTCTATAGATGGTCTGTTTGTATCTTTTTGCCCATTTTCTACTCTACAGGTTAAAGAGGCTTTTGTATACTGGAGATATAACCAAAAAAGGTCTAAGGTGACTTTACGCAGAGATTGAAGGATGAGCAGCAGATGGTCATCAAGGAGCATGGAAACAGCATTTCAGGCAAAGGAAAATGGAACTCTGTGAACTCAGAAGCATGCTATGGCATGGAAAGCAAAAAGGAAGGAGCACAAGGCAGAGGTCAGAAAGGGAGGCAGGGGCCAACAAACACATAGGGGCTTGAGGGACAAGGGAAGGAACTTGGATTTTTCCCTAGATGTTAGTGGGAACTCCCTGAACTCCCTGAACTGGAGGGACAATAATCTGATTCTGTTTTTATGTATCTAGCTTAAACTCAGAACAGCTTCCAAAATCTTATTCACAGAGGTTTTGTGGTCTTTTGGGCTAAGAATTTAATTATATTGCCTACAAACAAATATAACTGTGTATATTTTACTAACATTTAACTAAATTCTTATCTTACTGTATTAACATTTCCATGTTTAATGATAGCTAGCATGCCTGTATTAATGCATGTATTGGAAATGATTCAGCATTTCACTATTTGGTGTGGTATTTGTATTAGGACTGGGTTATTTTTATTATGCTTAAGAGGTTTCCTTCTATTCTTAAAGTTTTAACTAGAAAATGGTAGTAAATAATATCTCCTTTAGCATCTACAGACTTAACCACACTACTTTGTTAACATAATGAATGAATTATAAGTGATTACCAATAATGAGCCATTCTGGCATTCCTGGAATAAACCCTTTTGTTCACGGTGTTTTATTCTAATAACTCAAGGCTTAATTCCATTTATCAGAGAAGCCATCTTCCACCTTTTTCTGTGGTCTGAAAGAATTCAGATAACGAACTACCTGTTGATTTGCTCCTCAGGACTCCTAAAATACATCATTTAGTCTCAAATGTGTGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTACTATCTATACAGATAAATATTTTAGAGACAAGGTCTCACTCTGTCTCAGGGTCACCAAGACTAGAATGGAGAGGCATGATCATAGCTCACTGCAGCCTTGAAGTCCTGGGCTCATGTCATCCTCCCACCTGAGCCGCCTGAGTAGCTGGGACTACAGGCGCATGCCATTGTGTCTGGCTAATTTTTGTTATTTTTTTTGTAGAGACAAGTACTTGTTTTGTTGCCCAGGCTGGTCTCAAACTGCTGACTTCAAGCAACCCTCCTACCCTGACTTCCCAAACTTTGTTTATATTTTTGATAGAAAAAATAGTATGTGTATTTTTGATTAATAAAAAATGAAAATAAGCCCAAAACCAGTAAGATAAATGTTTCCAGTCATATTTCTTTCAAATATTAGAAATAGTACCTACCTAATAAATTCAGGAATAAATTTTGGCTGAAATTTGAAAAGAATAAACAGTAAGTCAGTAAAACAGGCTAAGACTACCATAAATAGCTAATAAAGAAACATACCACTTACATGGTGTGAGAGATCAGCATCCATAATAATGATGTAGTTTCCTGTGGCATGTTTCATTCCATGAATATATGCAGTTCCTAAAAATGAAAGTAGATCCATTCAAGAAAATCAACAGAAATCTTTACATATACATTTGAACATCAAGGAAATTGTTTAGCACCTGAAGAGCACACATTAGTTCTCTAAAAGTCAGATTAATAAATTGGTATTTTTCACCTTAAGTACATAAGTTCATGTATATTACATATATAATCAAGAAGGTAGCTGGCCACACACCCCCATTCAGATGTCAATTTAATACAATAGATCATACCTCTATTTCAGTATAGCAAAGAAATAGTTTATAAGTTCAAAAGTCTAAGATTATGTAGCACAATTATCACATTCTCATGCTTTAAAAACCCATCTGGTGTTTCCTTGGCATCCCCCTAAGACACTGATGAGCTCCACATTTACAAATCAGCTTCCTACTTAATATCTCCACTTGGGTATTTCAGAAATCTCAAAGATAACATTGCAAAATCATCTTCCAATTCTCTACCTCTCTCTTACAGGCCACCTCTCCAGGAAAGGCACCAACTATCCAACTGCTCCATCCACAGGTCTAGAGATGATTCTTGATTTCCTGCCTTTAACCATAACTTCTAAACTGTAATTAAGTCCTATTGATTCTCCATCCAAAACATTTCAATTCCCTTTTTCTTGTCTTTTACACCGTAAACCTGGTACGCTAGACCCTTGCTCTGGTATTTGGGGCCAAAGGCCTAGGTGACAATTACTCAGCCAGCTCCATGCCTCAAAGTCCCACAGGGACTTGGCAGGCTAGGGTAACTTGTTAGGAGCAGGACTTGGGGATTCCTGCATTCTCTAGTCCAGACCCCTCACAAGTGTCTTATGAGCAAGGCTGAACTCTTCTAACTTATTTTGTTAAGAAGTGAATATCGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGTGGATCACTGGAGGTCAGGGAGTTTGAGACTAGCCTAACCAACATGGCAAAACCTCATCTCTACTAAAAATACAAAAAATTGGCCAGGCGCAGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATCTGAGGTCGGGAATTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACCAAAAATACAAAATTAGCTGGGCATGGTGGTGCATGCCTACAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGATCGCGGTGAGCCGAGATCGCGTCATCGCACCCCAGCCTGGGCAAGAAGAGCGAAACTCCGTCTCAAACAAACAAAAATTAGCCGGGCATGGTGGTACACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATGGCTCAAACCCAGCAGGCAGGGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGGATCAGAGTAAGACTGTCTCAGAAAGATAAAGGAGTGAATATTTACACTTTTTGGTTTCATGGCAGTTTCCAGATTTTTTTGAATCCCAAAGAATCTTCTGGGTTCAGATACTGAGAACATTTGATGCTTGGGAATTGATGGTCTTCAAGATAGCAGACTCCAGTTAAGCATTGTGCTTTCTTCATGTTAAGTTTTAGCACAAATAAAGGCAGAGTTTCCTCTCAGAATTACTGAGCTCATATGAGCTTTTCAATAATGCTGTATGTTTAAAAGCTGGAAAAGCTTCCTTTTTTAAAAATAAAGAATAACTGTTTTTATCACTAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCATTGCAACCTCTGCCTCCTGAGTTCAAGCGACTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGATGCGCGTCACGACGCCCAGCTAATTTTTGTATTTTTAGTAGGGATGGGGTTTTACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGCTCTGCCCACCTCGGCCTCCCAAAGTGCTAAGATTACATTTGTGAGCCACTGTGCCC
CCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCACACCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTCACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCCCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAAGCCTGAGTATTTTTAATTCTAACACATATTTTCCCAAATTTGAACACATATTTTCCAAAAGGGTTATAGCAACTTATACTTCCTTCAGCAATATTTGTGTGTCCATTTTTTACCATCTTATTGGTACTGGATATTACTACTGCTCTAAAAGTTTTTAACTTTGTTAAACTAATGGATAATAAAATGGTCACACACAGTTATTTTGTGTTTATTTCCTTGACTACATCCCAGGAAGAACGTCTTCTTTTATTAGCCATTTGGATTTCTTCTATAGATGGTCTGTTTGTATCTTTTTGCCCATTTTCTACTCTACAGGTTAAAGAGGCTTTTGTATACTGGAGATATAACCAAAAAAGGTCTAAGGTGACTTTACGCAGAGATTGAAGGATGAGCAGCAGATGGTCATCAAGGAGCATGGAAACAGCATTTCAGGCAAAGGAAAATGGAACTCTGTGAACTCAGAAGCATGCTATGGCATGGAAAGCAAAAAGGAAGGAGCACAAGGCAGAGGTCAGAAAGGGAGGCAGGGGCCAACAAACACATAGGGGCTTGAGGGACAAGGGAAGGAACTTGGATTTTTCCCTAGATGTTAGTGGGAACTCCCTGAACTCCCTGAACTGGAGGGACAATAATCTGATTCTGTTTTTATGTATCTAGCTTAAACTCAGAACAGCTTCCAAAATCTTATTCACAGAGGTTTTGTGGTCTTTTGGGCTAAGAATTTAATTATATTGCCTACAAACAAATATAACTGTGTATATTTTACTAACATTTAACTAAATTCTTATCTTACTGTATTAACATTTCCATGTTTAATGATAGCTAGCATGCCTGTATTAATGCATGTATTGGAAATGATTCAGCATTTCACTATTTGGTGTGGTATTTGTATTAGGACTGGGTTATTTTTATTATGCTTAAGAGGTTTCCTTCTATTCTTAAAGTTTTAACTAGAAAATGGTAGTAAATAATATCTCCTTTAGCATCTACAGACTTAACCACACTACTTTGTTAACATAATGAATGAATTATAAGTGATTACCAATAATGAGCCATTCTGGCATTCCTGGAATAAACCCTTTTGTTCACGGTGTTTTATTCTAATAACTCAAGGCTTAATTCCATTTATCAGAGAAGCCATCTTCCACCTTTTTCTGTGGTCTGAAAGAATTCAGATAACGAACTACCTGTTGATTTGCTCCTCAGGACTCCTAAAATACATCATTTAGTCTCAAATGTGTGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTACTATCTATACAGATAAATATTTTAGAGACAAGGTCTCACTCTGTCTCAGGGTCACCAAGACTAGAATGGAGAGGCATGATCATAGCTCACTGCAGCCTTGAAGTCCTGGGCTCATGTCATCCTCCCACCTGAGCCGCCTGAGTAGCTGGGACTACAGGCGCATGCCATTGTGTCTGGCTAATTTTTGTTATTTTTTTTGTAGAGACAAGTACTTGTTTTGTTGCCCAGGCTGGTCTCAAACTGCTGACTTCAAGCAACCCTCCTACCCTGACTTCCCAAACTTTGTTTATATTTTTGATAGAAAAAATAGTATGTGTATTTTTGATTAATAAAAAATGAAAATAAGCCCAAAACCAGTAAGATAAATGTTTCCAGTCATATTTCTTTCAAATATTAGAAATAGTACCTACCTAATAAATTCAGGAATAAATTTTGGCTGAAATTTGAAAAGAATAAACAGTAAGTCAGTAAAACAGGCTAAGACTACCATAAATAGCTAATAAAGAAACATACCACTTACATGGTGTGAGAGATCAGCATCCATAATAATGTGGCATGTTTCATTCCATGAATATATGCAGTTCCTAAAAATGAAAGTAGATCCATTCAAGAAAATCAACAGAAATCTTTACATATACATTTGAACATCAAGGAAATTGTTTAGCACCTGAAGAGCACACATTAGTTCTCTAAAAGTCAGATTAATAAATTGGTATTTTTCACCTTAAGTACATAAGTTCATGTATATTACATATATAATCAAGAAGGTAGCTGGCCACACACCCCCATTCAGATGTCAATTTAATACAATAGATCATACCTCTATTTCAGTATAGCAAAGAAATAGTTTATAAGTTCAAAAGTCTAAGATTATGTAGCACAATTATCACATTCTCATGCTTTAAAAACCCATCTGGTGTTTCCTTGGCATCCCCCTAAGACACTGATGAGCTCCACATTTACAAATCAGCTTCCTACTTAATATCTCCACTTGGGTATTTCAGAAATCTCAAAGATAACATTGCAAAATCATCTTCCAATTCTCTACCTCTCTCTTACAGGCCACCTCTCCAGGAAAGGCACCAACTATCCAACTGCTCCATCCACAGGTCTAGAGATGATTCTTGATTTCCTGCCTTTAACCATAACTTCTAAACTGTAATTAAGTCCTATTGATTCTCCATCCAAAACATTTCAATTCCCTTTTTCTTGTCTTTTACACCGTAAACCTGGTACGCTAGACCCTTGCTCTGGTATTTGGGGCCAAAGGCCTAGGTGACAATTACTCAGCCAGCTCCATGCCTCAAAGTCCCACAGGGACTTGGCAGGCTAGGGTAACTTGTTAGGAGCAGGACTTGGGGATTCCTGCATTCTCTAGTCCAGACCCCTCACAAGTGTCTTATGAGCAAGGCTGAACTCTTCTAACTTATTTTGTTAAGAAGTGAATATCGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGTGGATCACTGGAGGTCAGGGAGTTTGAGACTAGCCTAACCAACATGGCAAAACCTCATCTCTACTAAAAATACAAAAAATTGGCCAGGCGCAGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATCTGAGGTCGGGAATTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACCAAAAATACAAAATTAGCTGGGCATGGTGGTGCATGCCTACAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGATCGCGGTGAGCCGAGATCGCGTCATCGCACCCCAGCCTGGGCAAGAAGAGCGAAACTCCGTCTCAAACAAACAAAAATTAGCCGGGCATGGTGGTACACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATGGCTCAAACCCAGCAGGCAGGGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGGATCAGAGTAAGACTGTCTCAGAAAGATAAAGGAGTGAATATTTACACTTTTTGGTTTCATGGCAGTTTCCAGATTTTTTTGAATCCCAAAGAATCTTCTGGGTTCAGATACTGAGAACATTTGATGCTTGGGAATTGATGGTCTTCAAGATAGCAGACTCCAGTTAAGCATTGTGCTTTCTTCATGTTAAGTTTTAGCACAAATAAAGGCAGAGTTTCCTCTCAGAATTACTGAGCTCATATGAGCTTTTCAATAATGCTGTATGTTTAAAAGCTGGAAAAGCTTCCTTTTTTAAAAATAAAGAATAACTGTTTTTATCACTAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCATTGCAACCTCTGCCTCCTGAGTTCAAGCGACTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGATGCGCGTCACGACGCCCAGCTAATTTTTGTATTTTTAGTAGGGATGGGGTTTTACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGCTCTGCCCACCTCGGCCTCCCAAAGTGCTAAGATTACATTTGTGAGCCACTGTGCCCNNNNNNNNNNNNN
pathogenic
314,786
The mutation impacting SALL4 (spalt like transcription factor 4) on chromosome 20 at position 51790423: benign or pathogenic? Name the associated disease(s) if pathogenic.
benign
TATGTTGCCAGGCTGGTCTCAAACTCCTGGACTCAGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGATCAGGAGATCGAGACCATCCTGGCTAACGCGGTGAAACCCCACCTCTACTAAAAATACAAAAAAATTAGCCGGCCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGAGGAGCTTGCAGTGAGCTTGAGCTTGAGATGGCGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACTCCGTCTCAAAAATAAATAAATAAATAAACAAACTCCTGGACTCAAGCAATCCTCCCACCTCGGCCTCCCAAAGGAGGAATGGAAGGATGGAAGAACTCATCACGGCTTGTGCCAATAAGAAGACACCTGGTGCCTAGCCCCCATCCTGCTGAAAGCCCACACAAACCCACCTTTAAGTTGCCTTTGGTGGTAAAAGCTCGCCCACAAATGTTGCACACAAAAGGCTTCTCTCCAGTGTGAGTCCGCTCGTGGATCTGAAGAGCGCTAGCAGACGAGAAGTTCTTCCCACACCGTGTGCAGCCATGTTGCTTGGCCTGTCGGCGTGGCTGGGCTGCTAACAAAGGGGTCATCCCTGGGGACAATGTCGAGGGTCCCACAAATGTGCCAGGAACTTCAACCTTGACATAGGTCGGCGGGGCTCGGATAAACGTGGAAGGGAGACTGCTCCGACCTAGTACACAGAGGGGAAAAAAGCCAGACCTTTATCATCCAACCTTCATTCTTTCTCTTCAAAGCAAAAGAGATCTTTAAAAATAACTGCCTGCTAGTTTGAGAGTCTGGAGCTGGCTTTGTAAGTAATTAACACCTTCCCCTTTGAATTGTTTATCTGCACAAAGAATAAAGCTTCAAATGCTTGGGAAAAGGTATCACTTTGGGTTTTTTTTTTTTAAAGGCATGGGCAACATATAAACACATATGTAATTTAAGTTCAAATTTCTGCATAAGAAACTACCTTTAAAGCATATGCCCAGACACCATCTTTCTTTGATTCTTTGATACAGCTTTTCCCTTATTTTACCATTAATGACATCAACAAACCTCTCAATAGATATGTGCATTTAAAATGGGTTCATCTTTCCCTGCTTCAAGAGTGGCTAATTTGTGAACATTACATCAGGCAGTGGGGCCTCAGAGTCAGGGAACCACGGCTTATTTCAGTGGTCAAAAAGCAGTGGCCACTTCCTCAAACATACTCTTAAGACACCCATATACAGAATCATAGTGTGGAGAAACAAAAAGAAAAAAACTATAACAAAATAGAACGACTACCCACCCCTATGTCCCAAGGGGCTCAAAGACAAAAATAAAAACCAACAAAAAAGGTATGCTGTCCATACCCATTTTGCATTAACCATCATAAATTAAAAGCATGTTCGTTACTAGGATAGAGGCAGTTACTATTGCCCTCTACCCAGAAGTAAAGAAAAGCTAATTGCCCTATAGAAGGGGCTGCTTCAAGTCATACTCTCCGTTTGTAAAGTTCAACCCAGGCTCCTTTTTGATGACCTTGAGCCCAAAATGGACATAAGTTAAATCCAAAGCTCTATCACCTTCCATCTCAGTGCGGCTGTTCTCGGAGCTCTCTGCTTTGCTCCCAGCATCGGGAGACTTTGACTTGATGCTTTCGGCTTGACTATTGGCCGGGGAGAGTGCCTGGAAGGATGTGGTTTCCAGGATATCTGGGCTTCGGCTCTGATACTCCTGGTCTCCCATCAGCGAGGATGAGTCGTTGGTCAAGCCATCGCTCTCCACGGAACCGTTTTCTCTGCTGCCCTGGCGCTGCAGGTTAAAAGGGGCAGGACCCACTTTCCCTGGGGCATCTAAGGAAGCCATCATGGCAAACCCTAGCGTGGGTGATGCCGAGTGGATGCTGGGAAGAGGCGTGGGGACCTTGGAGGAGCTGCTGGGAGCCTCCTGGGAGCTGACTTCCTCTACATCGATGCTTTCGATGACATCATCATGGCAGATAGCGCCGGTGCTGCCGTTCTCACCCACGGTCATTGGCTCAGAACCCGTAAAGTCACAGGGATTCTCTGGCAGGGGCGTGTTGGGAATCTGACCGCCCATGTGCATCCGAATATGTTGCTGCAGCATCACGGCATTAGTGAACTTCTTCTGGCAGATGGGGCACGAATGCTGCGTCTTAATGGATGTGTTGGTTCGGTGAACCCCAAGGTGTGTCTTCAGGTTACCTTTGGTAGAAAAGGCTCGGCCACAGATCTTACACTGGAACGGTCTCTCCCCGGTGTGGGTGCGATAATGCATCTTGAGGGAGCTCTGACAGCTTAAGACTCGGTGGCAAATGAGACATTCGTTGGGATCAGTGGTGGCCTTGTCAATGTTCTCCACCAACTGCTGCAATTTCAGGGTCTCTGACCCTGGCTCAGGGGTCCCACTCCCTTGGAAGCCACCAGCCCTTGGGGAATTATAGTTTGGTCCCACCCCAGGGAGTGTGGGTCCACCCTCACTTTCTGGAGAAGGCCCAGGCTGCAGGTCACCGGGCAAGGAGCCACCCGTGAGGTCCTTGGGATTAGTCCCCGAAGAAAGATTCTGAGGTAGCCCTACAGAGGTGGTTACAAGGACAGGTTTGCTGTCTAAAGAAAGACTCGGTTCATCTATGGGGTCAGGTACAGAGAGTGCATAGGGGATGCCATTGCCGGCCGCCACTTTGTCCTGGAACTCGGCAAACAGCTGGGGGTTTGCCTTCACCTGGGGATGTCGGTGAAAGTGCACCTTGAGGTTGCCCTTGGTGGTGAAGCGATGACCACAGACAGAGCACACGAAGGGTCTCTCTCCAGTGTGGGAGCGGAGGTGGATCTGCAAGGAGCTATCAGTCCCAAAAACCTTGCTACAGTACTTACACTTGTGCTTGTAGAGGGCCGCCTCGTCTTTGGGTTTGACATCCACCGCGGAGATGTTCGGTGGCTTCCCCTTCCCTTTCTTGGATGTGTCTAGCGCCACAGTGGAGAAAGGGCTCTGGAAGAGCACCGAGCCCGGGGCCTGAGGAAGCAAAGCGCTCGGGAGGCGGGACATGACGTTCGGGAGCACCCGGGTCCCATCCGGCTTCAGAGTGAAGGGTGCCAGCCCTGGGGACAGGGAGCTGGTGGCAGAAGGGATGTTGGCGTGAGGTAGCTTGGCTTGTTTCAAGGCATCCAGAGACAGACCTTGGCTTCCAGCTTTCTGGCTGAGCAAAGCCACAGCTGCAGAAACCTGCTGAGACATGTGGCTGCCCAAGGTCTTCAGAGTGTCGGCCCCTGCCCCGCTTGAGTGGAGGGCGTGGGAGGCCCACATGTTCACCTGGATGCGGATCTGCTCGGTGAGCTGGATCTGCTGTAGCTGCTGCTGCTGCAGACACAAGATCTGCTCGAGGACCCACGGGATGCTGTTGGCACCAGGCACGGGGGCAGGGAGTGCATCCGCGCTCCGCTGATTCACCGCCACCTTGGTGCCCCGTAGTGCCTGCAAGGTCACATTAGTGTTGGCCACTTTGCCTTTGGCTAAATAGCTTATGTCCTGGGGGGTGGGTGGCAGGGCTGTCTCTGTCTTTAGGTACACCACAGACTCCGCATCCGGCTTCTCCTTCATGTCCTCTGAGCTGCCGCCATTCTCCCTGTGACAGTCCTTACTGCCGGGACTGGTGGGCTGGTGGCTCAGTACAGCTCCGGAGAAGTCTTCTGAAGGCACAGGCCCCTCGCTGTCATTCATGATGAGGACAGGTGGATTTTTAGTGCAATTTTTCTTATGTTCCAGGAACTCAGAGATGCTGAAGAACTCCGCACAGCATTTCTCACAGACGTGCGTCTCCTCCCGACGAAGCCGCTTTACTGTGGCTTCATCCTCACTCGCCACCTCGTCATTCCCTGGGTGGTTCACTGGAGCACCTGTAACAAGACAGAAAAAGCTAAGGACTCTGCCCAAGTAAAAGATGTGGGGGGAGCCGGGCACCGTCGCTCACATCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGATCAC
TATGTTGCCAGGCTGGTCTCAAACTCCTGGACTCAGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGATCAGGAGATCGAGACCATCCTGGCTAACGCGGTGAAACCCCACCTCTACTAAAAATACAAAAAAATTAGCCGGCCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGAGGAGCTTGCAGTGAGCTTGAGCTTGAGATGGCGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACTCCGTCTCAAAAATAAATAAATAAATAAACAAACTCCTGGACTCAAGCAATCCTCCCACCTCGGCCTCCCAAAGGAGGAATGGAAGGATGGAAGAACTCATCACGGCTTGTGCCAATAAGAAGACACCTGGTGCCTAGCCCCCATCCTGCTGAAAGCCCACACAAACCCACCTTTAAGTTGCCTTTGGTGGTAAAAGCTCGCCCACAAATGTTGCACACAAAAGGCTTCTCTCCAGTGTGAGTCCGCTCGTGGATCTGAAGAGCGCTAGCAGACGAGAAGTTCTTCCCACACCGTGTGCAGCCATGTTGCTTGGCCTGTCGGCGTGGCTGGGCTGCTAACAAAGGGGTCATCCCTGGGGACAATGTCGAGGGTCCCACAAATGTGCCAGGAACTTCAACCTTGACATAGGTCGGCGGGGCTCGGATAAACGTGGAAGGGAGACTGCTCCGACCTAGTACACAGAGGGGAAAAAAGCCAGACCTTTATCATCCAACCTTCATTCTTTCTCTTCAAAGCAAAAGAGATCTTTAAAAATAACTGCCTGCTAGTTTGAGAGTCTGGAGCTGGCTTTGTAAGTAATTAACACCTTCCCCTTTGAATTGTTTATCTGCACAAAGAATAAAGCTTCAAATGCTTGGGAAAAGGTATCACTTTGGGTTTTTTTTTTTTAAAGGCATGGGCAACATATAAACACATATGTAATTTAAGTTCAAATTTCTGCATAAGAAACTACCTTTAAAGCATATGCCCAGACACCATCTTTCTTTGATTCTTTGATACAGCTTTTCCCTTATTTTACCATTAATGACATCAACAAACCTCTCAATAGATATGTGCATTTAAAATGGGTTCATCTTTCCCTGCTTCAAGAGTGGCTAATTTGTGAACATTACATCAGGCAGTGGGGCCTCAGAGTCAGGGAACCACGGCTTATTTCAGTGGTCAAAAAGCAGTGGCCACTTCCTCAAACATACTCTTAAGACACCCATATACAGAATCATAGTGTGGAGAAACAAAAAGAAAAAAACTATAACAAAATAGAACGACTACCCACCCCTATGTCCCAAGGGGCTCAAAGACAAAAATAAAAACCAACAAAAAAGGTATGCTGTCCATACCCATTTTGCATTAACCATCATAAATTAAAAGCATGTTCGTTACTAGGATAGAGGCAGTTACTATTGCCCTCTACCCAGAAGTAAAGAAAAGCTAATTGCCCTATAGAAGGGGCTGCTTCAAGTCATACTCTCCGTTTGTAAAGTTCAACCCAGGCTCCTTTTTGATGACCTTGAGCCCAAAATGGACATAAGTTAAATCCAAAGCTCTATCACCTTCCATCTCAGTGCGGCTGTTCTCGGAGCTCTCTGCTTTGCTCCCAGCATCGGGAGACTTTGACTTGATGCTTTCGGCTTGACTATTGGCCGGGGAGAGTGCCTGGAAGGATGTGGTTTCCAGGATATCTGGGCTTCGGCTCTGATACTCCTGGTCTCCCATCAGCGAGGATGAGTCGTTGGTCAAGCCATCGCTCTCCACGGAACCGTTTTCTCTGCTGCCCTGGCGCTGCAGGTTAAAAGGGGCAGGACCCACTTTCCCTGGGGCATCTAAGGAAGCCATCATGGCAAACCCTAGCGTGGGTGATGCCGAGTGGATGCTGGGAAGAGGCGTGGGGACCTTGGAGGAGCTGCTGGGAGCCTCCTGGGAGCTGACTTCCTCTACATCGATGCTTTCGATGACATCATGGCAGATAGCGCCGGTGCTGCCGTTCTCACCCACGGTCATTGGCTCAGAACCCGTAAAGTCACAGGGATTCTCTGGCAGGGGCGTGTTGGGAATCTGACCGCCCATGTGCATCCGAATATGTTGCTGCAGCATCACGGCATTAGTGAACTTCTTCTGGCAGATGGGGCACGAATGCTGCGTCTTAATGGATGTGTTGGTTCGGTGAACCCCAAGGTGTGTCTTCAGGTTACCTTTGGTAGAAAAGGCTCGGCCACAGATCTTACACTGGAACGGTCTCTCCCCGGTGTGGGTGCGATAATGCATCTTGAGGGAGCTCTGACAGCTTAAGACTCGGTGGCAAATGAGACATTCGTTGGGATCAGTGGTGGCCTTGTCAATGTTCTCCACCAACTGCTGCAATTTCAGGGTCTCTGACCCTGGCTCAGGGGTCCCACTCCCTTGGAAGCCACCAGCCCTTGGGGAATTATAGTTTGGTCCCACCCCAGGGAGTGTGGGTCCACCCTCACTTTCTGGAGAAGGCCCAGGCTGCAGGTCACCGGGCAAGGAGCCACCCGTGAGGTCCTTGGGATTAGTCCCCGAAGAAAGATTCTGAGGTAGCCCTACAGAGGTGGTTACAAGGACAGGTTTGCTGTCTAAAGAAAGACTCGGTTCATCTATGGGGTCAGGTACAGAGAGTGCATAGGGGATGCCATTGCCGGCCGCCACTTTGTCCTGGAACTCGGCAAACAGCTGGGGGTTTGCCTTCACCTGGGGATGTCGGTGAAAGTGCACCTTGAGGTTGCCCTTGGTGGTGAAGCGATGACCACAGACAGAGCACACGAAGGGTCTCTCTCCAGTGTGGGAGCGGAGGTGGATCTGCAAGGAGCTATCAGTCCCAAAAACCTTGCTACAGTACTTACACTTGTGCTTGTAGAGGGCCGCCTCGTCTTTGGGTTTGACATCCACCGCGGAGATGTTCGGTGGCTTCCCCTTCCCTTTCTTGGATGTGTCTAGCGCCACAGTGGAGAAAGGGCTCTGGAAGAGCACCGAGCCCGGGGCCTGAGGAAGCAAAGCGCTCGGGAGGCGGGACATGACGTTCGGGAGCACCCGGGTCCCATCCGGCTTCAGAGTGAAGGGTGCCAGCCCTGGGGACAGGGAGCTGGTGGCAGAAGGGATGTTGGCGTGAGGTAGCTTGGCTTGTTTCAAGGCATCCAGAGACAGACCTTGGCTTCCAGCTTTCTGGCTGAGCAAAGCCACAGCTGCAGAAACCTGCTGAGACATGTGGCTGCCCAAGGTCTTCAGAGTGTCGGCCCCTGCCCCGCTTGAGTGGAGGGCGTGGGAGGCCCACATGTTCACCTGGATGCGGATCTGCTCGGTGAGCTGGATCTGCTGTAGCTGCTGCTGCTGCAGACACAAGATCTGCTCGAGGACCCACGGGATGCTGTTGGCACCAGGCACGGGGGCAGGGAGTGCATCCGCGCTCCGCTGATTCACCGCCACCTTGGTGCCCCGTAGTGCCTGCAAGGTCACATTAGTGTTGGCCACTTTGCCTTTGGCTAAATAGCTTATGTCCTGGGGGGTGGGTGGCAGGGCTGTCTCTGTCTTTAGGTACACCACAGACTCCGCATCCGGCTTCTCCTTCATGTCCTCTGAGCTGCCGCCATTCTCCCTGTGACAGTCCTTACTGCCGGGACTGGTGGGCTGGTGGCTCAGTACAGCTCCGGAGAAGTCTTCTGAAGGCACAGGCCCCTCGCTGTCATTCATGATGAGGACAGGTGGATTTTTAGTGCAATTTTTCTTATGTTCCAGGAACTCAGAGATGCTGAAGAACTCCGCACAGCATTTCTCACAGACGTGCGTCTCCTCCCGACGAAGCCGCTTTACTGTGGCTTCATCCTCACTCGCCACCTCGTCATTCCCTGGGTGGTTCACTGGAGCACCTGTAACAAGACAGAAAAAGCTAAGGACTCTGCCCAAGTAAAAGATGTGGGGGGAGCCGGGCACCGTCGCTCACATCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGATCACNNN
benign
314,842
Clinically, how would you classify the variant at chromosome 20, position 51791237, gene SALL4 (spalt like transcription factor 4): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Duane-radial_ray_syndrome', 'SALL4-related_disorder']
ATTCTTTCTCTTCAAAGCAAAAGAGATCTTTAAAAATAACTGCCTGCTAGTTTGAGAGTCTGGAGCTGGCTTTGTAAGTAATTAACACCTTCCCCTTTGAATTGTTTATCTGCACAAAGAATAAAGCTTCAAATGCTTGGGAAAAGGTATCACTTTGGGTTTTTTTTTTTTAAAGGCATGGGCAACATATAAACACATATGTAATTTAAGTTCAAATTTCTGCATAAGAAACTACCTTTAAAGCATATGCCCAGACACCATCTTTCTTTGATTCTTTGATACAGCTTTTCCCTTATTTTACCATTAATGACATCAACAAACCTCTCAATAGATATGTGCATTTAAAATGGGTTCATCTTTCCCTGCTTCAAGAGTGGCTAATTTGTGAACATTACATCAGGCAGTGGGGCCTCAGAGTCAGGGAACCACGGCTTATTTCAGTGGTCAAAAAGCAGTGGCCACTTCCTCAAACATACTCTTAAGACACCCATATACAGAATCATAGTGTGGAGAAACAAAAAGAAAAAAACTATAACAAAATAGAACGACTACCCACCCCTATGTCCCAAGGGGCTCAAAGACAAAAATAAAAACCAACAAAAAAGGTATGCTGTCCATACCCATTTTGCATTAACCATCATAAATTAAAAGCATGTTCGTTACTAGGATAGAGGCAGTTACTATTGCCCTCTACCCAGAAGTAAAGAAAAGCTAATTGCCCTATAGAAGGGGCTGCTTCAAGTCATACTCTCCGTTTGTAAAGTTCAACCCAGGCTCCTTTTTGATGACCTTGAGCCCAAAATGGACATAAGTTAAATCCAAAGCTCTATCACCTTCCATCTCAGTGCGGCTGTTCTCGGAGCTCTCTGCTTTGCTCCCAGCATCGGGAGACTTTGACTTGATGCTTTCGGCTTGACTATTGGCCGGGGAGAGTGCCTGGAAGGATGTGGTTTCCAGGATATCTGGGCTTCGGCTCTGATACTCCTGGTCTCCCATCAGCGAGGATGAGTCGTTGGTCAAGCCATCGCTCTCCACGGAACCGTTTTCTCTGCTGCCCTGGCGCTGCAGGTTAAAAGGGGCAGGACCCACTTTCCCTGGGGCATCTAAGGAAGCCATCATGGCAAACCCTAGCGTGGGTGATGCCGAGTGGATGCTGGGAAGAGGCGTGGGGACCTTGGAGGAGCTGCTGGGAGCCTCCTGGGAGCTGACTTCCTCTACATCGATGCTTTCGATGACATCATCATGGCAGATAGCGCCGGTGCTGCCGTTCTCACCCACGGTCATTGGCTCAGAACCCGTAAAGTCACAGGGATTCTCTGGCAGGGGCGTGTTGGGAATCTGACCGCCCATGTGCATCCGAATATGTTGCTGCAGCATCACGGCATTAGTGAACTTCTTCTGGCAGATGGGGCACGAATGCTGCGTCTTAATGGATGTGTTGGTTCGGTGAACCCCAAGGTGTGTCTTCAGGTTACCTTTGGTAGAAAAGGCTCGGCCACAGATCTTACACTGGAACGGTCTCTCCCCGGTGTGGGTGCGATAATGCATCTTGAGGGAGCTCTGACAGCTTAAGACTCGGTGGCAAATGAGACATTCGTTGGGATCAGTGGTGGCCTTGTCAATGTTCTCCACCAACTGCTGCAATTTCAGGGTCTCTGACCCTGGCTCAGGGGTCCCACTCCCTTGGAAGCCACCAGCCCTTGGGGAATTATAGTTTGGTCCCACCCCAGGGAGTGTGGGTCCACCCTCACTTTCTGGAGAAGGCCCAGGCTGCAGGTCACCGGGCAAGGAGCCACCCGTGAGGTCCTTGGGATTAGTCCCCGAAGAAAGATTCTGAGGTAGCCCTACAGAGGTGGTTACAAGGACAGGTTTGCTGTCTAAAGAAAGACTCGGTTCATCTATGGGGTCAGGTACAGAGAGTGCATAGGGGATGCCATTGCCGGCCGCCACTTTGTCCTGGAACTCGGCAAACAGCTGGGGGTTTGCCTTCACCTGGGGATGTCGGTGAAAGTGCACCTTGAGGTTGCCCTTGGTGGTGAAGCGATGACCACAGACAGAGCACACGAAGGGTCTCTCTCCAGTGTGGGAGCGGAGGTGGATCTGCAAGGAGCTATCAGTCCCAAAAACCTTGCTACAGTACTTACACTTGTGCTTGTAGAGGGCCGCCTCGTCTTTGGGTTTGACATCCACCGCGGAGATGTTCGGTGGCTTCCCCTTCCCTTTCTTGGATGTGTCTAGCGCCACAGTGGAGAAAGGGCTCTGGAAGAGCACCGAGCCCGGGGCCTGAGGAAGCAAAGCGCTCGGGAGGCGGGACATGACGTTCGGGAGCACCCGGGTCCCATCCGGCTTCAGAGTGAAGGGTGCCAGCCCTGGGGACAGGGAGCTGGTGGCAGAAGGGATGTTGGCGTGAGGTAGCTTGGCTTGTTTCAAGGCATCCAGAGACAGACCTTGGCTTCCAGCTTTCTGGCTGAGCAAAGCCACAGCTGCAGAAACCTGCTGAGACATGTGGCTGCCCAAGGTCTTCAGAGTGTCGGCCCCTGCCCCGCTTGAGTGGAGGGCGTGGGAGGCCCACATGTTCACCTGGATGCGGATCTGCTCGGTGAGCTGGATCTGCTGTAGCTGCTGCTGCTGCAGACACAAGATCTGCTCGAGGACCCACGGGATGCTGTTGGCACCAGGCACGGGGGCAGGGAGTGCATCCGCGCTCCGCTGATTCACCGCCACCTTGGTGCCCCGTAGTGCCTGCAAGGTCACATTAGTGTTGGCCACTTTGCCTTTGGCTAAATAGCTTATGTCCTGGGGGGTGGGTGGCAGGGCTGTCTCTGTCTTTAGGTACACCACAGACTCCGCATCCGGCTTCTCCTTCATGTCCTCTGAGCTGCCGCCATTCTCCCTGTGACAGTCCTTACTGCCGGGACTGGTGGGCTGGTGGCTCAGTACAGCTCCGGAGAAGTCTTCTGAAGGCACAGGCCCCTCGCTGTCATTCATGATGAGGACAGGTGGATTTTTAGTGCAATTTTTCTTATGTTCCAGGAACTCAGAGATGCTGAAGAACTCCGCACAGCATTTCTCACAGACGTGCGTCTCCTCCCGACGAAGCCGCTTTACTGTGGCTTCATCCTCACTCGCCACCTCGTCATTCCCTGGGTGGTTCACTGGAGCACCTGTAACAAGACAGAAAAAGCTAAGGACTCTGCCCAAGTAAAAGATGTGGGGGGAGCCGGGCACCGTCGCTCACATCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTTGGGAATTCAAGACCAGTCTGGCCAACATGGTGAGACCCTGTCACTACTAAAAACACAAAAATTAGCTGGGCATGGTGGTGGGCTCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCTCAAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCCCGCCATTGCACTCCAGCCTGAGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGGCAAAAAGGCTGATCCCTGAATTTCTTTTGTAACTGGGGCTTACTTACTTTAGGGTTAGTGCCAGCCTACACATTGCAACTCCGAACTTGGGACTGTGTTTTAGCCAGATGCTGGGGTCCTTCACATGATGCCTGGAAGTCTCTCGAAGCTACTTCATTGTTCTCACCTCCCTGCTGTCCTCTCAGGTATACCCCATCATCAAGATATCAATGGAGCTTGGGGCCACAGGACAAAGACAGGCATATCTCAGACCCAGCAGCTAAGCCTATAAATCTAAACCACACAAGACATTCACACGAGCATACAATGATCTAGGTTTTCTTGTTTTTTCAGAAATGTTCACAGCAGCAAAGAAGTAAATTTTGGCCCACCCACCCATAGTGTGAGAAATATGCAGAATTTCTGTATGCCACAGAAATTAAGTGAAAGAAACGGGTTGCGCAACAATATGTACAACATGACCATTTTGCTTAAAACAAAACCTGTGTTTGAAATGTACAAATGTGGCTGGGTGCAGTGGCTCGCACCAGTCATCCCAGCACTTTGAGGCCACTTTTGAGAGGCCGGGAGTTT
ATTCTTTCTCTTCAAAGCAAAAGAGATCTTTAAAAATAACTGCCTGCTAGTTTGAGAGTCTGGAGCTGGCTTTGTAAGTAATTAACACCTTCCCCTTTGAATTGTTTATCTGCACAAAGAATAAAGCTTCAAATGCTTGGGAAAAGGTATCACTTTGGGTTTTTTTTTTTTAAAGGCATGGGCAACATATAAACACATATGTAATTTAAGTTCAAATTTCTGCATAAGAAACTACCTTTAAAGCATATGCCCAGACACCATCTTTCTTTGATTCTTTGATACAGCTTTTCCCTTATTTTACCATTAATGACATCAACAAACCTCTCAATAGATATGTGCATTTAAAATGGGTTCATCTTTCCCTGCTTCAAGAGTGGCTAATTTGTGAACATTACATCAGGCAGTGGGGCCTCAGAGTCAGGGAACCACGGCTTATTTCAGTGGTCAAAAAGCAGTGGCCACTTCCTCAAACATACTCTTAAGACACCCATATACAGAATCATAGTGTGGAGAAACAAAAAGAAAAAAACTATAACAAAATAGAACGACTACCCACCCCTATGTCCCAAGGGGCTCAAAGACAAAAATAAAAACCAACAAAAAAGGTATGCTGTCCATACCCATTTTGCATTAACCATCATAAATTAAAAGCATGTTCGTTACTAGGATAGAGGCAGTTACTATTGCCCTCTACCCAGAAGTAAAGAAAAGCTAATTGCCCTATAGAAGGGGCTGCTTCAAGTCATACTCTCCGTTTGTAAAGTTCAACCCAGGCTCCTTTTTGATGACCTTGAGCCCAAAATGGACATAAGTTAAATCCAAAGCTCTATCACCTTCCATCTCAGTGCGGCTGTTCTCGGAGCTCTCTGCTTTGCTCCCAGCATCGGGAGACTTTGACTTGATGCTTTCGGCTTGACTATTGGCCGGGGAGAGTGCCTGGAAGGATGTGGTTTCCAGGATATCTGGGCTTCGGCTCTGATACTCCTGGTCTCCCATCAGCGAGGATGAGTCGTTGGTCAAGCCATCGCTCTCCACGGAACCGTTTTCTCTGCTGCCCTGGCGCTGCAGGTTAAAAGGGGCAGGACCCACTTTCCCTGGGGCATCTAAGGAAGCCATCATGGCAAACCCTAGCGTGGGTGATGCCGAGTGGATGCTGGGAAGAGGCGTGGGGACCTTGGAGGAGCTGCTGGGAGCCTCCTGGGAGCTGACTTCCTCTACATCGATGCTTTCGATGACATCATCATGGCAGATAGCGCCGGTGCTGCCGTTCTCACCCACGGTCATTGGCTCAGAACCCGTAAAGTCACAGGGATTCTCTGGCAGGGGCGTGTTGGGAATCTGACCGCCCATGTGCATCCGAATATGTTGCTGCAGCATCACGGCATTAGTGAACTTCTTCTGGCAGATGGGGCACGAATGCTGCGTCTTAATGGATGTGTTGGTTCGGTGAACCCCAAGGTGTGTCTTCAGGTTACCTTTGGTAGAAAAGGCTCGGCCACAGATCTTACACTGGAACGGTCTCTCCCCGGTGTGGGTGCGATAATGCATCTTGAGGGAGCTCTGACAGCTTAAGACTCGGTGGCAAATGAGACATTCGTTGGGATCAGTGGTGGCCTTGTCAATGTTCTCCACCAACTGCTGCAATTTCAGGGTCTCTGACCCTGGCTCAGGGGTCCCACTCCCTTGGAAGCCACCAGCCCTTGGGGAATTATAGTTTGGTCCCACCCCAGGGAGTGTGGGTCCACCCTCACTTTCTGGAGAAGGCCCAGGCTGCAGGTCACCGGGCAAGGAGCCACCCGTGAGGTCCTTGGGATTAGTCCCCGAAGAAAGATTCTGAGGTAGCCCTACAGAGGTGGTTACAAGGACAGGTTTGCTGTCTAAAGAAAGACTCGGTTCATCTATGGGGTCAGGTACAGAGAGTGCATAGGGGATGCCATTGCCGGCCGCCACTTTGTCCTGGAACTCGGCAAACAGCTGGGGGTTTGCCTTCACCTGGGGATGTCGGTGAAAGTGCACCTTGAGGTTGCCCTTGGTGGTGAAGCGATGACCACAGAGCACACGAAGGGTCTCTCTCCAGTGTGGGAGCGGAGGTGGATCTGCAAGGAGCTATCAGTCCCAAAAACCTTGCTACAGTACTTACACTTGTGCTTGTAGAGGGCCGCCTCGTCTTTGGGTTTGACATCCACCGCGGAGATGTTCGGTGGCTTCCCCTTCCCTTTCTTGGATGTGTCTAGCGCCACAGTGGAGAAAGGGCTCTGGAAGAGCACCGAGCCCGGGGCCTGAGGAAGCAAAGCGCTCGGGAGGCGGGACATGACGTTCGGGAGCACCCGGGTCCCATCCGGCTTCAGAGTGAAGGGTGCCAGCCCTGGGGACAGGGAGCTGGTGGCAGAAGGGATGTTGGCGTGAGGTAGCTTGGCTTGTTTCAAGGCATCCAGAGACAGACCTTGGCTTCCAGCTTTCTGGCTGAGCAAAGCCACAGCTGCAGAAACCTGCTGAGACATGTGGCTGCCCAAGGTCTTCAGAGTGTCGGCCCCTGCCCCGCTTGAGTGGAGGGCGTGGGAGGCCCACATGTTCACCTGGATGCGGATCTGCTCGGTGAGCTGGATCTGCTGTAGCTGCTGCTGCTGCAGACACAAGATCTGCTCGAGGACCCACGGGATGCTGTTGGCACCAGGCACGGGGGCAGGGAGTGCATCCGCGCTCCGCTGATTCACCGCCACCTTGGTGCCCCGTAGTGCCTGCAAGGTCACATTAGTGTTGGCCACTTTGCCTTTGGCTAAATAGCTTATGTCCTGGGGGGTGGGTGGCAGGGCTGTCTCTGTCTTTAGGTACACCACAGACTCCGCATCCGGCTTCTCCTTCATGTCCTCTGAGCTGCCGCCATTCTCCCTGTGACAGTCCTTACTGCCGGGACTGGTGGGCTGGTGGCTCAGTACAGCTCCGGAGAAGTCTTCTGAAGGCACAGGCCCCTCGCTGTCATTCATGATGAGGACAGGTGGATTTTTAGTGCAATTTTTCTTATGTTCCAGGAACTCAGAGATGCTGAAGAACTCCGCACAGCATTTCTCACAGACGTGCGTCTCCTCCCGACGAAGCCGCTTTACTGTGGCTTCATCCTCACTCGCCACCTCGTCATTCCCTGGGTGGTTCACTGGAGCACCTGTAACAAGACAGAAAAAGCTAAGGACTCTGCCCAAGTAAAAGATGTGGGGGGAGCCGGGCACCGTCGCTCACATCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTTGGGAATTCAAGACCAGTCTGGCCAACATGGTGAGACCCTGTCACTACTAAAAACACAAAAATTAGCTGGGCATGGTGGTGGGCTCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCTCAAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCCCGCCATTGCACTCCAGCCTGAGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGGCAAAAAGGCTGATCCCTGAATTTCTTTTGTAACTGGGGCTTACTTACTTTAGGGTTAGTGCCAGCCTACACATTGCAACTCCGAACTTGGGACTGTGTTTTAGCCAGATGCTGGGGTCCTTCACATGATGCCTGGAAGTCTCTCGAAGCTACTTCATTGTTCTCACCTCCCTGCTGTCCTCTCAGGTATACCCCATCATCAAGATATCAATGGAGCTTGGGGCCACAGGACAAAGACAGGCATATCTCAGACCCAGCAGCTAAGCCTATAAATCTAAACCACACAAGACATTCACACGAGCATACAATGATCTAGGTTTTCTTGTTTTTTCAGAAATGTTCACAGCAGCAAAGAAGTAAATTTTGGCCCACCCACCCATAGTGTGAGAAATATGCAGAATTTCTGTATGCCACAGAAATTAAGTGAAAGAAACGGGTTGCGCAACAATATGTACAACATGACCATTTTGCTTAAAACAAAACCTGTGTTTGAAATGTACAAATGTGGCTGGGTGCAGTGGCTCGCACCAGTCATCCCAGCACTTTGAGGCCACTTTTGAGAGGCCGGGAGTTTNNNN
pathogenic
314,855
Determine whether the variant at chromosome 20, position 51791960, in gene SALL4 (spalt like transcription factor 4) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Duane-radial_ray_syndrome']
TAGAAGGGGCTGCTTCAAGTCATACTCTCCGTTTGTAAAGTTCAACCCAGGCTCCTTTTTGATGACCTTGAGCCCAAAATGGACATAAGTTAAATCCAAAGCTCTATCACCTTCCATCTCAGTGCGGCTGTTCTCGGAGCTCTCTGCTTTGCTCCCAGCATCGGGAGACTTTGACTTGATGCTTTCGGCTTGACTATTGGCCGGGGAGAGTGCCTGGAAGGATGTGGTTTCCAGGATATCTGGGCTTCGGCTCTGATACTCCTGGTCTCCCATCAGCGAGGATGAGTCGTTGGTCAAGCCATCGCTCTCCACGGAACCGTTTTCTCTGCTGCCCTGGCGCTGCAGGTTAAAAGGGGCAGGACCCACTTTCCCTGGGGCATCTAAGGAAGCCATCATGGCAAACCCTAGCGTGGGTGATGCCGAGTGGATGCTGGGAAGAGGCGTGGGGACCTTGGAGGAGCTGCTGGGAGCCTCCTGGGAGCTGACTTCCTCTACATCGATGCTTTCGATGACATCATCATGGCAGATAGCGCCGGTGCTGCCGTTCTCACCCACGGTCATTGGCTCAGAACCCGTAAAGTCACAGGGATTCTCTGGCAGGGGCGTGTTGGGAATCTGACCGCCCATGTGCATCCGAATATGTTGCTGCAGCATCACGGCATTAGTGAACTTCTTCTGGCAGATGGGGCACGAATGCTGCGTCTTAATGGATGTGTTGGTTCGGTGAACCCCAAGGTGTGTCTTCAGGTTACCTTTGGTAGAAAAGGCTCGGCCACAGATCTTACACTGGAACGGTCTCTCCCCGGTGTGGGTGCGATAATGCATCTTGAGGGAGCTCTGACAGCTTAAGACTCGGTGGCAAATGAGACATTCGTTGGGATCAGTGGTGGCCTTGTCAATGTTCTCCACCAACTGCTGCAATTTCAGGGTCTCTGACCCTGGCTCAGGGGTCCCACTCCCTTGGAAGCCACCAGCCCTTGGGGAATTATAGTTTGGTCCCACCCCAGGGAGTGTGGGTCCACCCTCACTTTCTGGAGAAGGCCCAGGCTGCAGGTCACCGGGCAAGGAGCCACCCGTGAGGTCCTTGGGATTAGTCCCCGAAGAAAGATTCTGAGGTAGCCCTACAGAGGTGGTTACAAGGACAGGTTTGCTGTCTAAAGAAAGACTCGGTTCATCTATGGGGTCAGGTACAGAGAGTGCATAGGGGATGCCATTGCCGGCCGCCACTTTGTCCTGGAACTCGGCAAACAGCTGGGGGTTTGCCTTCACCTGGGGATGTCGGTGAAAGTGCACCTTGAGGTTGCCCTTGGTGGTGAAGCGATGACCACAGACAGAGCACACGAAGGGTCTCTCTCCAGTGTGGGAGCGGAGGTGGATCTGCAAGGAGCTATCAGTCCCAAAAACCTTGCTACAGTACTTACACTTGTGCTTGTAGAGGGCCGCCTCGTCTTTGGGTTTGACATCCACCGCGGAGATGTTCGGTGGCTTCCCCTTCCCTTTCTTGGATGTGTCTAGCGCCACAGTGGAGAAAGGGCTCTGGAAGAGCACCGAGCCCGGGGCCTGAGGAAGCAAAGCGCTCGGGAGGCGGGACATGACGTTCGGGAGCACCCGGGTCCCATCCGGCTTCAGAGTGAAGGGTGCCAGCCCTGGGGACAGGGAGCTGGTGGCAGAAGGGATGTTGGCGTGAGGTAGCTTGGCTTGTTTCAAGGCATCCAGAGACAGACCTTGGCTTCCAGCTTTCTGGCTGAGCAAAGCCACAGCTGCAGAAACCTGCTGAGACATGTGGCTGCCCAAGGTCTTCAGAGTGTCGGCCCCTGCCCCGCTTGAGTGGAGGGCGTGGGAGGCCCACATGTTCACCTGGATGCGGATCTGCTCGGTGAGCTGGATCTGCTGTAGCTGCTGCTGCTGCAGACACAAGATCTGCTCGAGGACCCACGGGATGCTGTTGGCACCAGGCACGGGGGCAGGGAGTGCATCCGCGCTCCGCTGATTCACCGCCACCTTGGTGCCCCGTAGTGCCTGCAAGGTCACATTAGTGTTGGCCACTTTGCCTTTGGCTAAATAGCTTATGTCCTGGGGGGTGGGTGGCAGGGCTGTCTCTGTCTTTAGGTACACCACAGACTCCGCATCCGGCTTCTCCTTCATGTCCTCTGAGCTGCCGCCATTCTCCCTGTGACAGTCCTTACTGCCGGGACTGGTGGGCTGGTGGCTCAGTACAGCTCCGGAGAAGTCTTCTGAAGGCACAGGCCCCTCGCTGTCATTCATGATGAGGACAGGTGGATTTTTAGTGCAATTTTTCTTATGTTCCAGGAACTCAGAGATGCTGAAGAACTCCGCACAGCATTTCTCACAGACGTGCGTCTCCTCCCGACGAAGCCGCTTTACTGTGGCTTCATCCTCACTCGCCACCTCGTCATTCCCTGGGTGGTTCACTGGAGCACCTGTAACAAGACAGAAAAAGCTAAGGACTCTGCCCAAGTAAAAGATGTGGGGGGAGCCGGGCACCGTCGCTCACATCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTTGGGAATTCAAGACCAGTCTGGCCAACATGGTGAGACCCTGTCACTACTAAAAACACAAAAATTAGCTGGGCATGGTGGTGGGCTCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCTCAAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCCCGCCATTGCACTCCAGCCTGAGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGGCAAAAAGGCTGATCCCTGAATTTCTTTTGTAACTGGGGCTTACTTACTTTAGGGTTAGTGCCAGCCTACACATTGCAACTCCGAACTTGGGACTGTGTTTTAGCCAGATGCTGGGGTCCTTCACATGATGCCTGGAAGTCTCTCGAAGCTACTTCATTGTTCTCACCTCCCTGCTGTCCTCTCAGGTATACCCCATCATCAAGATATCAATGGAGCTTGGGGCCACAGGACAAAGACAGGCATATCTCAGACCCAGCAGCTAAGCCTATAAATCTAAACCACACAAGACATTCACACGAGCATACAATGATCTAGGTTTTCTTGTTTTTTCAGAAATGTTCACAGCAGCAAAGAAGTAAATTTTGGCCCACCCACCCATAGTGTGAGAAATATGCAGAATTTCTGTATGCCACAGAAATTAAGTGAAAGAAACGGGTTGCGCAACAATATGTACAACATGACCATTTTGCTTAAAACAAAACCTGTGTTTGAAATGTACAAATGTGGCTGGGTGCAGTGGCTCGCACCAGTCATCCCAGCACTTTGAGGCCACTTTTGAGAGGCCGGGAGTTTGAAACCAGCAACACAGTGACACCCCGTCTCTATAAAAAAAATAAGAAGATAAAAATAGCTGAGCATGGCAGCGTCCATGTATAGTTCAAGCAACTCCAGAGGCTGAGGCAGGAGAACCGCTTGAGCCTGGGAAGTCAAGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTGGAAAAAAAAAGTACAAATGCACAAGGAAAAGGCCAGGAAGGGCTGGAGTGCAGTGGCCCAATCTTGGCTCACTGTAACCTCCGCCTCCTGGATTCAAGCTATTCTCATGCCTCAGTCTCCCGAGTAGCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGGTGCAAGTGATCCGTCTGCCTCAGCCTCCCAAAGTGCTCGGATTACAGGCATGAGCCACCGTGCCCAGCCAAAGCCACGGACTTTTGACAGCACAGTCCACCCACGGGTTTCCAGGAGGGGCTGATCTTGAAGCATGGCCTTAACAAACTGATTTAATCTTTACTTATTTCAGACTGGGTCACAATATGAAGTCTTGCAAGGTATGTGTAGGCTGGGGGTGGGTCAGGGGAAGAGACAACAGCCATGGGCAGGTCTGGCCTGCCAGAGTTAAGAAAGCTAGGCAGGGCCAACCTAGCCTTGCCTATCAATAACAGGTAGTTATTGATAGGCAAGTCGGCACACCCCTAA
TAGAAGGGGCTGCTTCAAGTCATACTCTCCGTTTGTAAAGTTCAACCCAGGCTCCTTTTTGATGACCTTGAGCCCAAAATGGACATAAGTTAAATCCAAAGCTCTATCACCTTCCATCTCAGTGCGGCTGTTCTCGGAGCTCTCTGCTTTGCTCCCAGCATCGGGAGACTTTGACTTGATGCTTTCGGCTTGACTATTGGCCGGGGAGAGTGCCTGGAAGGATGTGGTTTCCAGGATATCTGGGCTTCGGCTCTGATACTCCTGGTCTCCCATCAGCGAGGATGAGTCGTTGGTCAAGCCATCGCTCTCCACGGAACCGTTTTCTCTGCTGCCCTGGCGCTGCAGGTTAAAAGGGGCAGGACCCACTTTCCCTGGGGCATCTAAGGAAGCCATCATGGCAAACCCTAGCGTGGGTGATGCCGAGTGGATGCTGGGAAGAGGCGTGGGGACCTTGGAGGAGCTGCTGGGAGCCTCCTGGGAGCTGACTTCCTCTACATCGATGCTTTCGATGACATCATCATGGCAGATAGCGCCGGTGCTGCCGTTCTCACCCACGGTCATTGGCTCAGAACCCGTAAAGTCACAGGGATTCTCTGGCAGGGGCGTGTTGGGAATCTGACCGCCCATGTGCATCCGAATATGTTGCTGCAGCATCACGGCATTAGTGAACTTCTTCTGGCAGATGGGGCACGAATGCTGCGTCTTAATGGATGTGTTGGTTCGGTGAACCCCAAGGTGTGTCTTCAGGTTACCTTTGGTAGAAAAGGCTCGGCCACAGATCTTACACTGGAACGGTCTCTCCCCGGTGTGGGTGCGATAATGCATCTTGAGGGAGCTCTGACAGCTTAAGACTCGGTGGCAAATGAGACATTCGTTGGGATCAGTGGTGGCCTTGTCAATGTTCTCCACCAACTGCTGCAATTTCAGGGTCTCTGACCCTGGCTCAGGGGTCCCACTCCCTTGGAAGCCACCAGCCCTTGGGGAATTATAGTTTGGTCCCACCCCAGGGAGTGTGGGTCCACCCTCACTTTCTGGAGAAGGCCCAGGCTGCAGGTCACCGGGCAAGGAGCCACCCGTGAGGTCCTTGGGATTAGTCCCCGAAGAAAGATTCTGAGGTAGCCCTACAGAGGTGGTTACAAGGACAGGTTTGCTGTCTAAAGAAAGACTCGGTTCATCTATGGGGTCAGGTACAGAGAGTGCATAGGGGATGCCATTGCCGGCCGCCACTTTGTCCTGGAACTCGGCAAACAGCTGGGGGTTTGCCTTCACCTGGGGATGTCGGTGAAAGTGCACCTTGAGGTTGCCCTTGGTGGTGAAGCGATGACCACAGACAGAGCACACGAAGGGTCTCTCTCCAGTGTGGGAGCGGAGGTGGATCTGCAAGGAGCTATCAGTCCCAAAAACCTTGCTACAGTACTTACACTTGTGCTTGTAGAGGGCCGCCTCGTCTTTGGGTTTGACATCCACCGCGGAGATGTTCGGTGGCTTCCCCTTCCCTTTCTTGGATGTGTCTAGCGCCACAGTGGAGAAAGGGCTCTGGAAGAGCACCGAGCCCGGGGCCTGAGGAAGCAAAGCGCTCGGGAGGCGGGACATGACGTTCGGGAGCACCCGGGTCCCATCCGGCTTCAGAGTGAAGGGTGCCAGCCCTGGGGACAGGGAGCTGGTGGCAGAAGGGATGTTGGCGTGAGGTAGCTTGGCTTGTTTCAAGGCATCCAGAGACAGACCTTGGCTTCCAGCTTTCTGGCTGAGCAAAGCCACAGCTGCAGAAACCTGCTGAGACATGTGGCTGCCCAAGGTCTTCAGAGTGTCGGCCCCTGCCCCGCTTGAGTGGAGGGCGTGGGAGGCCCACATGTTCACCTGGATGCGGATCTGCTCGGTGAGCTGGATCTGCTGTAGCTGCTGCTGCTGCAGACACAAGATCTGCTCGAGGACCCACGGGATGCTGTTGGCACCAGGCACGGGGGCAGGGAGTGCATCCGCGCTCCGCTGATTCACCGCCACCTTGGTGCCCCGTAGTGCCTGCAAGGTCACATTAGTGTTGGCCACTTTGCTAAATAGCTTATGTCCTGGGGGGTGGGTGGCAGGGCTGTCTCTGTCTTTAGGTACACCACAGACTCCGCATCCGGCTTCTCCTTCATGTCCTCTGAGCTGCCGCCATTCTCCCTGTGACAGTCCTTACTGCCGGGACTGGTGGGCTGGTGGCTCAGTACAGCTCCGGAGAAGTCTTCTGAAGGCACAGGCCCCTCGCTGTCATTCATGATGAGGACAGGTGGATTTTTAGTGCAATTTTTCTTATGTTCCAGGAACTCAGAGATGCTGAAGAACTCCGCACAGCATTTCTCACAGACGTGCGTCTCCTCCCGACGAAGCCGCTTTACTGTGGCTTCATCCTCACTCGCCACCTCGTCATTCCCTGGGTGGTTCACTGGAGCACCTGTAACAAGACAGAAAAAGCTAAGGACTCTGCCCAAGTAAAAGATGTGGGGGGAGCCGGGCACCGTCGCTCACATCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTTGGGAATTCAAGACCAGTCTGGCCAACATGGTGAGACCCTGTCACTACTAAAAACACAAAAATTAGCTGGGCATGGTGGTGGGCTCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCTCAAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCCCGCCATTGCACTCCAGCCTGAGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGGCAAAAAGGCTGATCCCTGAATTTCTTTTGTAACTGGGGCTTACTTACTTTAGGGTTAGTGCCAGCCTACACATTGCAACTCCGAACTTGGGACTGTGTTTTAGCCAGATGCTGGGGTCCTTCACATGATGCCTGGAAGTCTCTCGAAGCTACTTCATTGTTCTCACCTCCCTGCTGTCCTCTCAGGTATACCCCATCATCAAGATATCAATGGAGCTTGGGGCCACAGGACAAAGACAGGCATATCTCAGACCCAGCAGCTAAGCCTATAAATCTAAACCACACAAGACATTCACACGAGCATACAATGATCTAGGTTTTCTTGTTTTTTCAGAAATGTTCACAGCAGCAAAGAAGTAAATTTTGGCCCACCCACCCATAGTGTGAGAAATATGCAGAATTTCTGTATGCCACAGAAATTAAGTGAAAGAAACGGGTTGCGCAACAATATGTACAACATGACCATTTTGCTTAAAACAAAACCTGTGTTTGAAATGTACAAATGTGGCTGGGTGCAGTGGCTCGCACCAGTCATCCCAGCACTTTGAGGCCACTTTTGAGAGGCCGGGAGTTTGAAACCAGCAACACAGTGACACCCCGTCTCTATAAAAAAAATAAGAAGATAAAAATAGCTGAGCATGGCAGCGTCCATGTATAGTTCAAGCAACTCCAGAGGCTGAGGCAGGAGAACCGCTTGAGCCTGGGAAGTCAAGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTGGAAAAAAAAAGTACAAATGCACAAGGAAAAGGCCAGGAAGGGCTGGAGTGCAGTGGCCCAATCTTGGCTCACTGTAACCTCCGCCTCCTGGATTCAAGCTATTCTCATGCCTCAGTCTCCCGAGTAGCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGGTGCAAGTGATCCGTCTGCCTCAGCCTCCCAAAGTGCTCGGATTACAGGCATGAGCCACCGTGCCCAGCCAAAGCCACGGACTTTTGACAGCACAGTCCACCCACGGGTTTCCAGGAGGGGCTGATCTTGAAGCATGGCCTTAACAAACTGATTTAATCTTTACTTATTTCAGACTGGGTCACAATATGAAGTCTTGCAAGGTATGTGTAGGCTGGGGGTGGGTCAGGGGAAGAGACAACAGCCATGGGCAGGTCTGGCCTGCCAGAGTTAAGAAAGCTAGGCAGGGCCAACCTAGCCTTGCCTATCAATAACAGGTAGTTATTGATAGGCAAGTCGGCACACCCCTAANNNNNNN
pathogenic
314,863
Is chromosome 20, position 51792353, gene SALL4 (spalt like transcription factor 4) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Duane-radial_ray_syndrome', 'Oculootoradial_syndrome']
CATGGCAAACCCTAGCGTGGGTGATGCCGAGTGGATGCTGGGAAGAGGCGTGGGGACCTTGGAGGAGCTGCTGGGAGCCTCCTGGGAGCTGACTTCCTCTACATCGATGCTTTCGATGACATCATCATGGCAGATAGCGCCGGTGCTGCCGTTCTCACCCACGGTCATTGGCTCAGAACCCGTAAAGTCACAGGGATTCTCTGGCAGGGGCGTGTTGGGAATCTGACCGCCCATGTGCATCCGAATATGTTGCTGCAGCATCACGGCATTAGTGAACTTCTTCTGGCAGATGGGGCACGAATGCTGCGTCTTAATGGATGTGTTGGTTCGGTGAACCCCAAGGTGTGTCTTCAGGTTACCTTTGGTAGAAAAGGCTCGGCCACAGATCTTACACTGGAACGGTCTCTCCCCGGTGTGGGTGCGATAATGCATCTTGAGGGAGCTCTGACAGCTTAAGACTCGGTGGCAAATGAGACATTCGTTGGGATCAGTGGTGGCCTTGTCAATGTTCTCCACCAACTGCTGCAATTTCAGGGTCTCTGACCCTGGCTCAGGGGTCCCACTCCCTTGGAAGCCACCAGCCCTTGGGGAATTATAGTTTGGTCCCACCCCAGGGAGTGTGGGTCCACCCTCACTTTCTGGAGAAGGCCCAGGCTGCAGGTCACCGGGCAAGGAGCCACCCGTGAGGTCCTTGGGATTAGTCCCCGAAGAAAGATTCTGAGGTAGCCCTACAGAGGTGGTTACAAGGACAGGTTTGCTGTCTAAAGAAAGACTCGGTTCATCTATGGGGTCAGGTACAGAGAGTGCATAGGGGATGCCATTGCCGGCCGCCACTTTGTCCTGGAACTCGGCAAACAGCTGGGGGTTTGCCTTCACCTGGGGATGTCGGTGAAAGTGCACCTTGAGGTTGCCCTTGGTGGTGAAGCGATGACCACAGACAGAGCACACGAAGGGTCTCTCTCCAGTGTGGGAGCGGAGGTGGATCTGCAAGGAGCTATCAGTCCCAAAAACCTTGCTACAGTACTTACACTTGTGCTTGTAGAGGGCCGCCTCGTCTTTGGGTTTGACATCCACCGCGGAGATGTTCGGTGGCTTCCCCTTCCCTTTCTTGGATGTGTCTAGCGCCACAGTGGAGAAAGGGCTCTGGAAGAGCACCGAGCCCGGGGCCTGAGGAAGCAAAGCGCTCGGGAGGCGGGACATGACGTTCGGGAGCACCCGGGTCCCATCCGGCTTCAGAGTGAAGGGTGCCAGCCCTGGGGACAGGGAGCTGGTGGCAGAAGGGATGTTGGCGTGAGGTAGCTTGGCTTGTTTCAAGGCATCCAGAGACAGACCTTGGCTTCCAGCTTTCTGGCTGAGCAAAGCCACAGCTGCAGAAACCTGCTGAGACATGTGGCTGCCCAAGGTCTTCAGAGTGTCGGCCCCTGCCCCGCTTGAGTGGAGGGCGTGGGAGGCCCACATGTTCACCTGGATGCGGATCTGCTCGGTGAGCTGGATCTGCTGTAGCTGCTGCTGCTGCAGACACAAGATCTGCTCGAGGACCCACGGGATGCTGTTGGCACCAGGCACGGGGGCAGGGAGTGCATCCGCGCTCCGCTGATTCACCGCCACCTTGGTGCCCCGTAGTGCCTGCAAGGTCACATTAGTGTTGGCCACTTTGCCTTTGGCTAAATAGCTTATGTCCTGGGGGGTGGGTGGCAGGGCTGTCTCTGTCTTTAGGTACACCACAGACTCCGCATCCGGCTTCTCCTTCATGTCCTCTGAGCTGCCGCCATTCTCCCTGTGACAGTCCTTACTGCCGGGACTGGTGGGCTGGTGGCTCAGTACAGCTCCGGAGAAGTCTTCTGAAGGCACAGGCCCCTCGCTGTCATTCATGATGAGGACAGGTGGATTTTTAGTGCAATTTTTCTTATGTTCCAGGAACTCAGAGATGCTGAAGAACTCCGCACAGCATTTCTCACAGACGTGCGTCTCCTCCCGACGAAGCCGCTTTACTGTGGCTTCATCCTCACTCGCCACCTCGTCATTCCCTGGGTGGTTCACTGGAGCACCTGTAACAAGACAGAAAAAGCTAAGGACTCTGCCCAAGTAAAAGATGTGGGGGGAGCCGGGCACCGTCGCTCACATCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTTGGGAATTCAAGACCAGTCTGGCCAACATGGTGAGACCCTGTCACTACTAAAAACACAAAAATTAGCTGGGCATGGTGGTGGGCTCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCTCAAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCCCGCCATTGCACTCCAGCCTGAGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGGCAAAAAGGCTGATCCCTGAATTTCTTTTGTAACTGGGGCTTACTTACTTTAGGGTTAGTGCCAGCCTACACATTGCAACTCCGAACTTGGGACTGTGTTTTAGCCAGATGCTGGGGTCCTTCACATGATGCCTGGAAGTCTCTCGAAGCTACTTCATTGTTCTCACCTCCCTGCTGTCCTCTCAGGTATACCCCATCATCAAGATATCAATGGAGCTTGGGGCCACAGGACAAAGACAGGCATATCTCAGACCCAGCAGCTAAGCCTATAAATCTAAACCACACAAGACATTCACACGAGCATACAATGATCTAGGTTTTCTTGTTTTTTCAGAAATGTTCACAGCAGCAAAGAAGTAAATTTTGGCCCACCCACCCATAGTGTGAGAAATATGCAGAATTTCTGTATGCCACAGAAATTAAGTGAAAGAAACGGGTTGCGCAACAATATGTACAACATGACCATTTTGCTTAAAACAAAACCTGTGTTTGAAATGTACAAATGTGGCTGGGTGCAGTGGCTCGCACCAGTCATCCCAGCACTTTGAGGCCACTTTTGAGAGGCCGGGAGTTTGAAACCAGCAACACAGTGACACCCCGTCTCTATAAAAAAAATAAGAAGATAAAAATAGCTGAGCATGGCAGCGTCCATGTATAGTTCAAGCAACTCCAGAGGCTGAGGCAGGAGAACCGCTTGAGCCTGGGAAGTCAAGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTGGAAAAAAAAAGTACAAATGCACAAGGAAAAGGCCAGGAAGGGCTGGAGTGCAGTGGCCCAATCTTGGCTCACTGTAACCTCCGCCTCCTGGATTCAAGCTATTCTCATGCCTCAGTCTCCCGAGTAGCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGGTGCAAGTGATCCGTCTGCCTCAGCCTCCCAAAGTGCTCGGATTACAGGCATGAGCCACCGTGCCCAGCCAAAGCCACGGACTTTTGACAGCACAGTCCACCCACGGGTTTCCAGGAGGGGCTGATCTTGAAGCATGGCCTTAACAAACTGATTTAATCTTTACTTATTTCAGACTGGGTCACAATATGAAGTCTTGCAAGGTATGTGTAGGCTGGGGGTGGGTCAGGGGAAGAGACAACAGCCATGGGCAGGTCTGGCCTGCCAGAGTTAAGAAAGCTAGGCAGGGCCAACCTAGCCTTGCCTATCAATAACAGGTAGTTATTGATAGGCAAGTCGGCACACCCCTAAGAAAGCCTACTGGGCACGCGTAATCGCGAGATGACAACCTCGTGATTAGATGATTAGGTAGATGCCTGGATTTACTGATTCAACCAGGACTGCTGAGAACAATGCCTTACAATAAAACAATGTAATGCCTCTCGTTCCACAATACTAACCTCCTACTGCGTGCAAAGCAGGGGTTGGGGACCCAATGGTGAAAAGATGAGCCCCATTATCTTCCTATAATTCAGATTTTGTACCAGCAGATGCCCATACTGTAATCATTCAATCCTATTAAATATCAGCTCCATTAAAGGCTGGGCGTGATGGCTCACACCTGTGATCCCAGCACTTTGGGAGGCTGAGAGTTCGAAACCAGCCTGACCAATATGGTGAAACTCCATCTCTACTAAAACTATA
CATGGCAAACCCTAGCGTGGGTGATGCCGAGTGGATGCTGGGAAGAGGCGTGGGGACCTTGGAGGAGCTGCTGGGAGCCTCCTGGGAGCTGACTTCCTCTACATCGATGCTTTCGATGACATCATCATGGCAGATAGCGCCGGTGCTGCCGTTCTCACCCACGGTCATTGGCTCAGAACCCGTAAAGTCACAGGGATTCTCTGGCAGGGGCGTGTTGGGAATCTGACCGCCCATGTGCATCCGAATATGTTGCTGCAGCATCACGGCATTAGTGAACTTCTTCTGGCAGATGGGGCACGAATGCTGCGTCTTAATGGATGTGTTGGTTCGGTGAACCCCAAGGTGTGTCTTCAGGTTACCTTTGGTAGAAAAGGCTCGGCCACAGATCTTACACTGGAACGGTCTCTCCCCGGTGTGGGTGCGATAATGCATCTTGAGGGAGCTCTGACAGCTTAAGACTCGGTGGCAAATGAGACATTCGTTGGGATCAGTGGTGGCCTTGTCAATGTTCTCCACCAACTGCTGCAATTTCAGGGTCTCTGACCCTGGCTCAGGGGTCCCACTCCCTTGGAAGCCACCAGCCCTTGGGGAATTATAGTTTGGTCCCACCCCAGGGAGTGTGGGTCCACCCTCACTTTCTGGAGAAGGCCCAGGCTGCAGGTCACCGGGCAAGGAGCCACCCGTGAGGTCCTTGGGATTAGTCCCCGAAGAAAGATTCTGAGGTAGCCCTACAGAGGTGGTTACAAGGACAGGTTTGCTGTCTAAAGAAAGACTCGGTTCATCTATGGGGTCAGGTACAGAGAGTGCATAGGGGATGCCATTGCCGGCCGCCACTTTGTCCTGGAACTCGGCAAACAGCTGGGGGTTTGCCTTCACCTGGGGATGTCGGTGAAAGTGCACCTTGAGGTTGCCCTTGGTGGTGAAGCGATGACCACAGACAGAGCACACGAAGGGTCTCTCTCCAGTGTGGGAGCGGAGGTGGATCTGCAAGGAGCTATCAGTCCCAAAAACCTTGCTACAGTACTTACACTTGTGCTTGTAGAGGGCCGCCTCGTCTTTGGGTTTGACATCCACCGCGGAGATGTTCGGTGGCTTCCCCTTCCCTTTCTTGGATGTGTCTAGCGCCACAGTGGAGAAAGGGCTCTGGAAGAGCACCGAGCCCGGGGCCTGAGGAAGCAAAGCGCTCGGGAGGCGGGACATGACGTTCGGGAGCACCCGGGTCCCATCCGGCTTCAGAGTGAAGGGTGCCAGCCCTGGGGACAGGGAGCTGGTGGCAGAAGGGATGTTGGCGTGAGGTAGCTTGGCTTGTTTCAAGGCATCCAGAGACAGACCTTGGCTTCCAGCTTTCTGGCTGAGCAAAGCCACAGCTGCAGAAACCTGCTGAGACATGTGGCTGCCCAAGGTCTTCAGAGTGTCGGCCCCTGCCCCGCTTGAGTGGAGGGCGTGGGAGGCCCACATGTTCACCTGGATGCGGATCTGCTCGGTGAGCTGGATCTGCTGTAGCTGCTGCTGCTGCAGACACAAGATCTGCTCGAGGACCCACGGGATGCTGTTGGCACCAGGCACGGGGGCAGGGAGTGCATCCGCGCTCCGCTGATTCACCGCCACCTTGGTGCCCCGTAGTGCCTGCAAGGTCACATTAGTGTTGGCCACTTTGCCTTTGGCTAAATAGCTTATGTCCTGGGGGGTGGGTGGCAGGGCTGTCTCTGTCTTTAGGTACACCACAGACTCCGCATCCGGCTTCTCCTTCATGTCCTCTGAGCTGCCGCCATTCTCCCTGTGACAGTCCTTACTGCCGGGACTGGTGGGCTGGTGGCTCAGTACAGCTCCGGAGAAGTCTTCTGAAGGCACAGGCCCCTCGCTGTCATTCATGATGAGGACAGGTGGATTTTTAGTGCAATTTTTCTTATGTTCCAGGAACTCAGAGATGCTGAAGAACTCCGCACAGCATTTCTCACAGACGTGCGTCTCCTCCCGACGAAGCCGCTTTACTGTGGCTTCATCCTCACTCGCCACCTCGTCATTCCCTGGGTGGTTCACTGGAGCACCGTAACAAGACAGAAAAAGCTAAGGACTCTGCCCAAGTAAAAGATGTGGGGGGAGCCGGGCACCGTCGCTCACATCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTTGGGAATTCAAGACCAGTCTGGCCAACATGGTGAGACCCTGTCACTACTAAAAACACAAAAATTAGCTGGGCATGGTGGTGGGCTCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCTCAAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCCCGCCATTGCACTCCAGCCTGAGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGGCAAAAAGGCTGATCCCTGAATTTCTTTTGTAACTGGGGCTTACTTACTTTAGGGTTAGTGCCAGCCTACACATTGCAACTCCGAACTTGGGACTGTGTTTTAGCCAGATGCTGGGGTCCTTCACATGATGCCTGGAAGTCTCTCGAAGCTACTTCATTGTTCTCACCTCCCTGCTGTCCTCTCAGGTATACCCCATCATCAAGATATCAATGGAGCTTGGGGCCACAGGACAAAGACAGGCATATCTCAGACCCAGCAGCTAAGCCTATAAATCTAAACCACACAAGACATTCACACGAGCATACAATGATCTAGGTTTTCTTGTTTTTTCAGAAATGTTCACAGCAGCAAAGAAGTAAATTTTGGCCCACCCACCCATAGTGTGAGAAATATGCAGAATTTCTGTATGCCACAGAAATTAAGTGAAAGAAACGGGTTGCGCAACAATATGTACAACATGACCATTTTGCTTAAAACAAAACCTGTGTTTGAAATGTACAAATGTGGCTGGGTGCAGTGGCTCGCACCAGTCATCCCAGCACTTTGAGGCCACTTTTGAGAGGCCGGGAGTTTGAAACCAGCAACACAGTGACACCCCGTCTCTATAAAAAAAATAAGAAGATAAAAATAGCTGAGCATGGCAGCGTCCATGTATAGTTCAAGCAACTCCAGAGGCTGAGGCAGGAGAACCGCTTGAGCCTGGGAAGTCAAGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTGGAAAAAAAAAGTACAAATGCACAAGGAAAAGGCCAGGAAGGGCTGGAGTGCAGTGGCCCAATCTTGGCTCACTGTAACCTCCGCCTCCTGGATTCAAGCTATTCTCATGCCTCAGTCTCCCGAGTAGCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGGTGCAAGTGATCCGTCTGCCTCAGCCTCCCAAAGTGCTCGGATTACAGGCATGAGCCACCGTGCCCAGCCAAAGCCACGGACTTTTGACAGCACAGTCCACCCACGGGTTTCCAGGAGGGGCTGATCTTGAAGCATGGCCTTAACAAACTGATTTAATCTTTACTTATTTCAGACTGGGTCACAATATGAAGTCTTGCAAGGTATGTGTAGGCTGGGGGTGGGTCAGGGGAAGAGACAACAGCCATGGGCAGGTCTGGCCTGCCAGAGTTAAGAAAGCTAGGCAGGGCCAACCTAGCCTTGCCTATCAATAACAGGTAGTTATTGATAGGCAAGTCGGCACACCCCTAAGAAAGCCTACTGGGCACGCGTAATCGCGAGATGACAACCTCGTGATTAGATGATTAGGTAGATGCCTGGATTTACTGATTCAACCAGGACTGCTGAGAACAATGCCTTACAATAAAACAATGTAATGCCTCTCGTTCCACAATACTAACCTCCTACTGCGTGCAAAGCAGGGGTTGGGGACCCAATGGTGAAAAGATGAGCCCCATTATCTTCCTATAATTCAGATTTTGTACCAGCAGATGCCCATACTGTAATCATTCAATCCTATTAAATATCAGCTCCATTAAAGGCTGGGCGTGATGGCTCACACCTGTGATCCCAGCACTTTGGGAGGCTGAGAGTTCGAAACCAGCCTGACCAATATGGTGAAACTCCATCTCTACTAAAACTATAN
pathogenic
314,868
A genetic variant on chromosome 20, position 54157436, affects the gene CYP24A1 (cytochrome P450 family 24 subfamily A member 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
pathogenic; ['Hypercalcemia,_infantile,_1']
ATCCGGGTTTAAACACCGACATGTCAGCCTATAAAGCCATATGTTACAAATGTCTTATTTCCACCACCAGGGGTGGTGGCTCACACTTGCAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATAATGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGTGTGCACCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCATGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCATTGCACTCCAGCCCAGGTGACAGTGTGAGACACTGTCTCAAAAAAAAAAAAAAAAAAAAAAATTAGGGCCTTCTTAGGCTAACTTTTGATCACTTCAATAGTTTTGAATTCATTGTAATGTCTATTAGGAGAACATAACTAGACTTACTAACTCTTAATTTCATTAAGGAAATTATTACTCAGGACGAGGCCAACATATGCTATTTGGCTTATGTTATTTAAAGGAAATAACTCAGTAGTATTGAAATAAATAGCACCTGGTTGGTATATGGACATGGCAAAAGTTGTGGAGGGAACATGAGAACTCCTCTATTGTCAGAAAAAGTATTGAATGGCATACTGCAGAAAAAATATTCTATTGTGTTCAATACAGGCTGATAAATATATACATTTATATTACATGTGGTTGCATAACACAAACCTAGACCCTAGGGCTAAATACAGTCCACCGCTTGTTTTTTATAAAATTTATCAGAACACAGCCTTTGTAGGCAGAATAACAGATCTCCTAAAATGTGAATGCCCTAATCCCTGGAACACGTGAATATACTACCTTATATGAAAAAAAGGGCTTTCCAGATGAAATTAAATTTATGAACTTGGAGATGGGAGACATGATCCTGGATAATATCTTGTCAGACAGAAGCAATGTAAGAAGAAAGAGAGATTCAAAGTGTGAGAGGGACTCAACCAACCATTGTTACTGGCTTTCAGTTGGGGAAGGTTTCATGAGCCAAGGAATATGGGAAATCTCTCAAAGTTGAGGATCGCCTTCAGCTGACAGCAGCAAAAAAATAAAGACTTCAGTCCTGTAACCATGAAGAACTAAATTCTGCCAACAACCAAACTAGCAAGAGAATAGATCCTCCTCTAGAACCTCCAGAAAGAGCCCCGACAACACGATAATTTTAGCCTGGAAGAGCCTCATCAGACTTCTGACCTATAGAACTGTAAGATAATAGATGTGTGTCGTGTAACTCACTAAGTTTTAGTAATTTGCGGTGGCAGCAATAGAAAGCTAGGACATCAGCTCACTCATTAGTTTACAAATTGCCTGTGGCTGCTTTCATGTTCCAAGGTAGTATTAAGAGGATGTGACAAAGACTGTATGGTCCATAAAACCTAAAATATTTGCCAACTGGCCCTTTACGGAAAAAGTTTGCCAACCCTTACTATTCACATGCAAAAACCATGAACAGCTGCTAGCATTTACTGAACACTTAATTGATGCCAGGCTCAGGAATAACTACTTGGTATTCATATTAAATTTTTGTGATACACTCTCTTTGGGTCATCATTTTACAAATGAAAAAAAAAAAGGAAGTAGAGAGTTTAGGGAACTGCTCAAGGTCACCCAGCAAGTTAGAGGTGAGCTGGGATTCAAACCCCAGTCTGGCTGACTTCCCAGCATAGCTCATCCCTCGTCATTCTCACTACCTTGCAGAGGATAATGAACCGCCTAGATGCTCACCTGAGGCGTATTATCGCTGGCAAAACGCGATGGGGAGTTCCCGGCTGGGCACCAGGGTGCCTGAGTGTAGCATCTCAACAGGCTCATTGTCTGTGGCCTGGATGTCGTATTTGCGGACAATCTGTAATGCACACGCACACAAAAACAGAATTACCCCTCTCTTCTTCTGCCTTGTGAAACAGCACAGAACATAATTGCAGAAACCGGTAAAGGTTTTACCCAACAAAGAGCCAAATGCAGTTGAAGCTCTGCTAATCGGCGACCAATGCACATTCTTTTTCCAACGCCAAATGGAAGATGCGCAAAAGGATTAATTTTTTCCTTCTCCTGAAGCCAACGTTCAGGTCTAAACTGACTTGAATCTTCAAAATTGTCTTCACTGGATCCCAACACCTGGGTATTTAGCATGAGCACTGTCTAAACACATGCAGAGACACATAGTATTTAAAATAACCAGAAGAGACCTTTGAATGGCAAAATTGACACAAGTTGTCACCTTACAAATCAAAAGCCAAATCCACAAATTTATAATAATGATGGTTGCCAACATGCGCTGAGTGCTTAAAATGTGCCAGGTAATAAATAGGTAAAGGGCTTTAGAATTGTGCACCATACTCACAACCACCCTGCGCAGCAGATTCTGTTATTAAACCCCTTTTACAGACGAAGTTGAGGCTCACAGAGATTATGTAACTCACTCAAGACAACACAGATAAAAGATGAAACTGAATGCAGGTCTCTGTCTCCATAGCCGTGAATTCTAATTCTATACTATGCAACATGTCAACTATTCTCTACCATCTCTGCATTCCCAAAATGAATATTTTCCAGTACAAAGTCTAGGGAGATCTGGTGAATATTTGCAAAGTGTATCTTCCAAGGTTTTGTAAGGTATAGAATATACAAATTCTACTTACTCCTTTGGGTAAAGCATATTCACCCAGAACTGTTGCCTTGTCAAGAGTCCGAGTTGTAAATGGTACACTCGGCGTAAGCCTGAAAAGATAAAATCAAAGATGTAAAGGTGAGCACAGTCTAAGTTCTCTCTGAAGTGTCAATGGGAATGCAGATTGGATTAAATAAATGCTGCCCAAGTGCATACTCAAAGAGGCAGCATGATCACAGATCTTCCTAAAGAAGTTGTTTTTTTCTTCTCAATAATTGTATCTCTTGTTCCTCTCATCTTCTTGAGTTAGTTAAAACCCCAGTGCAAGGCTGTTTAGTAAACTGTTAACGTTGGTTTTCCCCCTTCATTCCAGACTAAAATGTGTATGTTTCCGTGCTAGCCCTTGAAGCGTGATGTTTGTTCTATGTTTCTCCAATCTACTCTTCACAAAGTTGACAGTATCCTTCTAATCCTAAAATGTTGTGAGTTTTGTTTTCCCAAAAGGATGTAAAAAGAATTTCCAAAAAATGTTTTATACCAGAGGCTCAAAAGCAAAGCTTTCTCTGTGTCCTATTATATAATAATATAGCTCTTTTGTGAGCCTCCATCTCATAACCTTCAATCATGCCCCTATCTTAATTAGTGCTTACAGCGTTCATTAGAGTAGCAAGATTATTGAATTAAAGGGGAGGGCACTGGCTTTCCAAGATTTAATAGAATTTGCCCAAATGATTTAGGAAATGAGTGCCAGAAAAGAAATATGGCTCCAAAGATTTTTTTGCAGTGTGATAATTGTTTCTAATTAGCTAGGGGAAGCCGCCCATGAGTAGGGGACCACTTGTTTTGTGTTTACGAGAACAGTGTTCTAACACATTTATATTGGCTCAGAGATAGGCTCTTACCTCATAGATTCTTTCAGACAGGCTTTTAAATACGGCATATTCCTCAAATCTTCTGCCCGTGGCACCTGATTCTCAGGTAATACACTTTGAATTTCCTTAAGAAGCTTTTGTTGCACTTGGGGATTACGGGATAAATTGTAGAGAATCCACATTAGACTGTTTGCTGTCTGCAAGCCAAATGGACATAAACTTGAGTTTTTGTAAATAACTGCATTAAACCACTATTAGCTGAAAAAAAGGTGATGCCCACCACCTTATTCTGCAAATGTATCAGTGAAGCTCTTTCACGCGTCCTTATAGCTACGCCTTTAGACAAATCCAATATATAAAAAAGCAGACTTATTTCATAAAACATATCAATTAAGGATATATTTTAAATTATTTACTGAGGGAATCAAAGTATAATCCTTTAATCAGCTGCTTTAGAACATTTAAATACAGTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGACTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAACCTCCACC
ATCCGGGTTTAAACACCGACATGTCAGCCTATAAAGCCATATGTTACAAATGTCTTATTTCCACCACCAGGGGTGGTGGCTCACACTTGCAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATAATGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGTGTGCACCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCATGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCATTGCACTCCAGCCCAGGTGACAGTGTGAGACACTGTCTCAAAAAAAAAAAAAAAAAAAAAAATTAGGGCCTTCTTAGGCTAACTTTTGATCACTTCAATAGTTTTGAATTCATTGTAATGTCTATTAGGAGAACATAACTAGACTTACTAACTCTTAATTTCATTAAGGAAATTATTACTCAGGACGAGGCCAACATATGCTATTTGGCTTATGTTATTTAAAGGAAATAACTCAGTAGTATTGAAATAAATAGCACCTGGTTGGTATATGGACATGGCAAAAGTTGTGGAGGGAACATGAGAACTCCTCTATTGTCAGAAAAAGTATTGAATGGCATACTGCAGAAAAAATATTCTATTGTGTTCAATACAGGCTGATAAATATATACATTTATATTACATGTGGTTGCATAACACAAACCTAGACCCTAGGGCTAAATACAGTCCACCGCTTGTTTTTTATAAAATTTATCAGAACACAGCCTTTGTAGGCAGAATAACAGATCTCCTAAAATGTGAATGCCCTAATCCCTGGAACACGTGAATATACTACCTTATATGAAAAAAAGGGCTTTCCAGATGAAATTAAATTTATGAACTTGGAGATGGGAGACATGATCCTGGATAATATCTTGTCAGACAGAAGCAATGTAAGAAGAAAGAGAGATTCAAAGTGTGAGAGGGACTCAACCAACCATTGTTACTGGCTTTCAGTTGGGGAAGGTTTCATGAGCCAAGGAATATGGGAAATCTCTCAAAGTTGAGGATCGCCTTCAGCTGACAGCAGCAAAAAAATAAAGACTTCAGTCCTGTAACCATGAAGAACTAAATTCTGCCAACAACCAAACTAGCAAGAGAATAGATCCTCCTCTAGAACCTCCAGAAAGAGCCCCGACAACACGATAATTTTAGCCTGGAAGAGCCTCATCAGACTTCTGACCTATAGAACTGTAAGATAATAGATGTGTGTCGTGTAACTCACTAAGTTTTAGTAATTTGCGGTGGCAGCAATAGAAAGCTAGGACATCAGCTCACTCATTAGTTTACAAATTGCCTGTGGCTGCTTTCATGTTCCAAGGTAGTATTAAGAGGATGTGACAAAGACTGTATGGTCCATAAAACCTAAAATATTTGCCAACTGGCCCTTTACGGAAAAAGTTTGCCAACCCTTACTATTCACATGCAAAAACCATGAACAGCTGCTAGCATTTACTGAACACTTAATTGATGCCAGGCTCAGGAATAACTACTTGGTATTCATATTAAATTTTTGTGATACACTCTCTTTGGGTCATCATTTTACAAATGAAAAAAAAAAAGGAAGTAGAGAGTTTAGGGAACTGCTCAAGGTCACCCAGCAAGTTAGAGGTGAGCTGGGATTCAAACCCCAGTCTGGCTGACTTCCCAGCATAGCTCATCCCTCGTCATTCTCACTACCTTGCAGAGGATAATGAACCGCCTAGATGCTCACCTGAGGCGTATTATCGCTGGCAAAACGCGATGGGGAGTTCCCGGCTGGGCACCAGGGTGCCTGAGTGTAGCATCTCAACAGGCTCATTGTCTGTGGCCTGGATGTCGTATTTGCGGACAATCTGTAATGCACACGCACACAAAAACAGAATTACCCCTCTCTTCTTCTGCCTTGTGAAACAGCACAGAACATAATTGCAGAAACCGGTAAAGGTTTTACCCAACAAAGAGCCAAATGCAGTTGAAGCTCTGCTAATCGGCGACCAATGCATTCTTTTTCCAACGCCAAATGGAAGATGCGCAAAAGGATTAATTTTTTCCTTCTCCTGAAGCCAACGTTCAGGTCTAAACTGACTTGAATCTTCAAAATTGTCTTCACTGGATCCCAACACCTGGGTATTTAGCATGAGCACTGTCTAAACACATGCAGAGACACATAGTATTTAAAATAACCAGAAGAGACCTTTGAATGGCAAAATTGACACAAGTTGTCACCTTACAAATCAAAAGCCAAATCCACAAATTTATAATAATGATGGTTGCCAACATGCGCTGAGTGCTTAAAATGTGCCAGGTAATAAATAGGTAAAGGGCTTTAGAATTGTGCACCATACTCACAACCACCCTGCGCAGCAGATTCTGTTATTAAACCCCTTTTACAGACGAAGTTGAGGCTCACAGAGATTATGTAACTCACTCAAGACAACACAGATAAAAGATGAAACTGAATGCAGGTCTCTGTCTCCATAGCCGTGAATTCTAATTCTATACTATGCAACATGTCAACTATTCTCTACCATCTCTGCATTCCCAAAATGAATATTTTCCAGTACAAAGTCTAGGGAGATCTGGTGAATATTTGCAAAGTGTATCTTCCAAGGTTTTGTAAGGTATAGAATATACAAATTCTACTTACTCCTTTGGGTAAAGCATATTCACCCAGAACTGTTGCCTTGTCAAGAGTCCGAGTTGTAAATGGTACACTCGGCGTAAGCCTGAAAAGATAAAATCAAAGATGTAAAGGTGAGCACAGTCTAAGTTCTCTCTGAAGTGTCAATGGGAATGCAGATTGGATTAAATAAATGCTGCCCAAGTGCATACTCAAAGAGGCAGCATGATCACAGATCTTCCTAAAGAAGTTGTTTTTTTCTTCTCAATAATTGTATCTCTTGTTCCTCTCATCTTCTTGAGTTAGTTAAAACCCCAGTGCAAGGCTGTTTAGTAAACTGTTAACGTTGGTTTTCCCCCTTCATTCCAGACTAAAATGTGTATGTTTCCGTGCTAGCCCTTGAAGCGTGATGTTTGTTCTATGTTTCTCCAATCTACTCTTCACAAAGTTGACAGTATCCTTCTAATCCTAAAATGTTGTGAGTTTTGTTTTCCCAAAAGGATGTAAAAAGAATTTCCAAAAAATGTTTTATACCAGAGGCTCAAAAGCAAAGCTTTCTCTGTGTCCTATTATATAATAATATAGCTCTTTTGTGAGCCTCCATCTCATAACCTTCAATCATGCCCCTATCTTAATTAGTGCTTACAGCGTTCATTAGAGTAGCAAGATTATTGAATTAAAGGGGAGGGCACTGGCTTTCCAAGATTTAATAGAATTTGCCCAAATGATTTAGGAAATGAGTGCCAGAAAAGAAATATGGCTCCAAAGATTTTTTTGCAGTGTGATAATTGTTTCTAATTAGCTAGGGGAAGCCGCCCATGAGTAGGGGACCACTTGTTTTGTGTTTACGAGAACAGTGTTCTAACACATTTATATTGGCTCAGAGATAGGCTCTTACCTCATAGATTCTTTCAGACAGGCTTTTAAATACGGCATATTCCTCAAATCTTCTGCCCGTGGCACCTGATTCTCAGGTAATACACTTTGAATTTCCTTAAGAAGCTTTTGTTGCACTTGGGGATTACGGGATAAATTGTAGAGAATCCACATTAGACTGTTTGCTGTCTGCAAGCCAAATGGACATAAACTTGAGTTTTTGTAAATAACTGCATTAAACCACTATTAGCTGAAAAAAAGGTGATGCCCACCACCTTATTCTGCAAATGTATCAGTGAAGCTCTTTCACGCGTCCTTATAGCTACGCCTTTAGACAAATCCAATATATAAAAAAGCAGACTTATTTCATAAAACATATCAATTAAGGATATATTTTAAATTATTTACTGAGGGAATCAAAGTATAATCCTTTAATCAGCTGCTTTAGAACATTTAAATACAGTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGACTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAACCTCCACCNN
pathogenic
314,894
Chromosome 20, position 54165795, gene CYP24A1 (cytochrome P450 family 24 subfamily A member 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Hypercalcemia,_infantile,_1']
ATGTTAACTGTAATCTGTAGTAGACCCAGAAACAGTTACATTGAGGTAGGTTCTCTTATTATTATTATTAATTATTAGTCCATTTTAGAGACAAGGCAACTGAGGATGAAAAGGTGATTGCACATTTGGCCAAGCCACCACAACCAGTGACAGAGCTGAACTTGAACTCAGGAGTCCCTGACTCTATAAATTTTACTTTTTTATTTTGAGATGGAGTCTCACTCTGCCTCCCAAGATGGAGTGCAGTGGCTCAGTCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCCAGCTAATTTTTGTATTTGTAGTAGAGACTGGGTTTCACCGTGTTGACCGGGCTGATCTCAAACTCCTGGCCTCAAGTGATCTGCTCGCCTGGGCCACCCAAAGTGCTGGGATTACAGGGGTGAGCCACTGCACCTGGCCAGATTTTACTTTTAACCACTCTTAATTCCCAAAGAAGACTACAGAAAGCTTGTTACTTAGAATTTGTGTATGCTGGGGCAATCCCCAAAACACCTGTGTTTGCAAAACCTAAATGTGGTGATGAGGCTCAGGAGATCACTCCAGACCTCCTCTCTGAAGCTCCAGACACGGGGGTGCTGGGCTGGTTCTGGCTGGTTGTGAAGGGCGGCCCTTTACCTGATTTGAAAATGGTGTCCCAGGCCAGAGTGTGGTCCTGCCAGACCTTGGTGTTGAGGCTCTTGTGCAGCTCGACTGGAGTGACCATCATCCTCCCAAACGTGCTCATCATCTGAGAGAAATGCAAATGCCTTTTTATTCTGAATTCTCCTTCTCTCAAAGACAATGTTCGTTCTGGAAGAGGAACATTCTAAACCGCAGCACCCTGCACTTTTTAAAAGGCTGGAATTACAAGGACACCCCCGGCTCTCTCTGCACCGGTCCTGGGAGCAATGCCCGTACCCCACCTCCACCTCCTTTCAATATTGAAGGTAATGTGGGGGATGATTTTCCACTGGATGTGTTTGATAAAAATTGTAATCTTATGACCTAATTGTAAAAAAAAAAAAAAAAAGAGGAAAAACGATAACTTTCATATTCACTTCAATTTCTAATAATTTCCAAACTTCAGTGATTTCCAAACCAATTTCACAGCGTTTATCCTATCTACACGCCACCCAAACTATTCAAAAAGATAAAATCTGAAAAATTTTGGGCTCTTTTTAAAAAGTATTTTTAATCAACTGATCTTTAATTAAAATAGCTATTTTAACCTTGCCTAAACAAAGAAATAATGGATTTAATGTGCTTCTTTATGTTACGTGCATATATCCAGGGGTCCCCAACCCCCAGGCCGTGAACCAGTACTGGTCAGTGGCCTGTTAGGAACGGGGCCGCGCAGCAGGAGGTGATCAGCGGGCCAGCAGGTGTTACCACCTGAGCTCTGCCTCCTCTCAGATCAATGGCTGCATTAGATTCTTACAGGAGTGTGAACCCTATTGTGAATTGCCTATGCGAGGAATCTATGTTCCACACTCCTTATGAGAATCTAATGCCTGATGATCTGTCACTGTCTCCCATCACCCCCAGATGGGACTTTCGTGTTGCACGAAAACAAGCTCAGGGCTCCCACTGATTCTACATTATGGTGAGTATATAATAATAACAGAAATAAAGTGCACAGTAAACGTAATGCACTTAAATGATCCTCCCTCCCCTGCCCCACCACCCTGCCCTGTCCATGGAAAAATTGTCTTCCACGAAACTGGTCCCTGGTGCCAAAAAGGTTGGAGACAGCCGCATATATGCACATAAATATACTAAAATATATAATGCACATTAAAATGAACACTTAACTATTGAAATAAAATATGTGTGTATGCCATTTTTTGGGAATCACTGTGAAGTTCTGTAAAAATCGATCTGTAAAACATCAATCAAGAAAACTGCTTTCTTAAAGAGGCTGCTTACTGTTTTGATGGCCATGATGAAGTTCACAGCTTCATCCCCTGCATTCTTCTGGAGAAGCCCAAATCTCTTCTCATACAACACGAGGCAGATACCTGTCATTTAAAATAATCATCACTTTACACAAACAGCAATGCTGGAGTTGGAGTCTATGTTTAGCTGGTTATTAAAGACTCAATTCTATGCCTCTTAAAAGTGTGGGATTTTCTGAGAAAAGGCAACAGTCCAAGAATATTGAGGAAAAGCAGAGTCTGAGAGAAAGGGGACACCATCACTTTCTTTTTCTAGAAATTATCTCCAGGTCCAATGACTCATCACCTCAGAGTGTCATGATCAGAGATCCACTGTCCTGATCAAGTCACACAGGAGATCCAGGGGCCCTAGCAAAGGTGCTGCAGGGTCGGGTCTGCACTCTGCCTCTAACCCAGCTGTGTTTTTAGAGTCACTTATTGGATTCTATCTCCTGACATAATGAATTGGAAGCCATTCACCAGAGGAAGAGAAGGGAAGGGAATAATTATGTTCTAAACACCCATTACACGCCAGGTACTGGGCTAGCACTTCATATAGGGTTTTTTTTCCTTCCATTTCATCATTTTATTTAGAAGGAACCTTTTTACAAATAAAATTCTCAACTCTTCATTTCAAAACTTTTTACCTAGAGAAAAGTTGAAGGAATGGTAAAATGAATACCTGAATCCCCCGAACTCATCAACATCTTGCTGCCATTTCTTTCTCTTTGTGTGTATGTATGCATACAAGTGTATACGTGGTTGTGTGTGCTGAAGCATCTGAAAATAATTTTGAGCTCTCAGGTCACTTCACCGTTAAATACTTTAGCAGTAATGTCCTAAGAATAAAGCATTCTCCAACATAACCACAATGTCATTAACATCCCTAAGAACCTTAGCGACCATTCCATAAAAAATCTACTGTGTCCCATTTTAAAATGTTCCCCATTGTCCTAAAAATTATCTCTTGTAACCTTTTTTTTTTAAAAAAAGGACACAGGGCCGAGCGTGGTGGTTCACACCTGTAATCCCAACACTTCAGGAGGCTCGGGCAGGCAGACTGCTTGAGCCCAGGAGTTCGAGAATAGCCTGGGCAACATGGCAAAACGCTGTCTCTACAAAAAAATAAAAATAAAAAAATTATTCAGGCATGGCTACATGTGCCTGTAGTTCCAGCTACTCTGGAGGCTGAGGTGGGAAGATCTCTTGGGCCCAGGAGGCCGAGGTTGCAGTGGGCCGAGATCATACCACTGGCCACTGCACCCTAGCCTGAGTGACACAGTCTGGAAAAAAAAAATTATACAGGATTACTGCAACCAACTTTTTAGTGGTGGATAATTGGCTCTTGACTTATAAAGTAGGAGACTAGCATTAAAAAGGTAAACAAATGGCCTAAAATCATAAACCTGAGGAGTGAGAGTCAATTAGCTTAGTCAGCACCCACCCACAGCTTTTCCAACTACCTCCATGTTTTCCAAACTCTACTTATTTCTTCCCAGCCTTTCAAGGTTTCCCCGTATTTGTGTTCCACAGTGGTTGGCAGGTACACCACTGGGAATATGTGAGATAGCTCTGGATGGTACATGAACTTTAAAAATAATTAGTTACTCTGCTGGGCACAATGGCTCATGCTTGTAATCCCAGCACTCTCAGAGGTGGAGGTGGGAGCATCATCTGAGGTCAGGAGTTTGAGACCAACCGGTGGCAAAACCCCATCTCTACTTAAAAAACACAAAAGTTAGTCAGGCGTGGTATCGCACGCCTGCAATACCAGCACTTTGGGAGGCTGAGGTAAGTGGATCACCTGAGGTCAGCAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTGTACTAAAAAACACAAAAATCAGCCAGGCATGGTGGTGTGCACCTGTAGTCCCAGCTGCTCAGGATGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCGCTGCACTCCAGCCTGGGGCAGAGTGAGAGTCTGTCTCAAATAAGTAATTAAAAAAAGTTACTTATATTTATCTATTTATGGCAATATTTCTGACCTTGAATTTATGGAA
ATGTTAACTGTAATCTGTAGTAGACCCAGAAACAGTTACATTGAGGTAGGTTCTCTTATTATTATTATTAATTATTAGTCCATTTTAGAGACAAGGCAACTGAGGATGAAAAGGTGATTGCACATTTGGCCAAGCCACCACAACCAGTGACAGAGCTGAACTTGAACTCAGGAGTCCCTGACTCTATAAATTTTACTTTTTTATTTTGAGATGGAGTCTCACTCTGCCTCCCAAGATGGAGTGCAGTGGCTCAGTCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCCAGCTAATTTTTGTATTTGTAGTAGAGACTGGGTTTCACCGTGTTGACCGGGCTGATCTCAAACTCCTGGCCTCAAGTGATCTGCTCGCCTGGGCCACCCAAAGTGCTGGGATTACAGGGGTGAGCCACTGCACCTGGCCAGATTTTACTTTTAACCACTCTTAATTCCCAAAGAAGACTACAGAAAGCTTGTTACTTAGAATTTGTGTATGCTGGGGCAATCCCCAAAACACCTGTGTTTGCAAAACCTAAATGTGGTGATGAGGCTCAGGAGATCACTCCAGACCTCCTCTCTGAAGCTCCAGACACGGGGGTGCTGGGCTGGTTCTGGCTGGTTGTGAAGGGCGGCCCTTTACCTGATTTGAAAATGGTGTCCCAGGCCAGAGTGTGGTCCTGCCAGACCTTGGTGTTGAGGCTCTTGTGCAGCTCGACTGGAGTGACCATCATCCTCCCAAACGTGCTCATCATCTGAGAGAAATGCAAATGCCTTTTTATTCTGAATTCTCCTTCTCTCAAAGACAATGTTCGTTCTGGAAGAGGAACATTCTAAACCGCAGCACCCTGCACTTTTTAAAAGGCTGGAATTACAAGGACACCCCCGGCTCTCTCTGCACCGGTCCTGGGAGCAATGCCCGTACCCCACCTCCACCTCCTTTCAATATTGAAGGTAATGTGGGGGATGATTTTCCACTGGATGTGTTTGATAAAAATTGTAATCTTATGACCTAATTGTAAAAAAAAAAAAAAAAAGAGGAAAAACGATAACTTTCATATTCACTTCAATTTCTAATAATTTCCAAACTTCAGTGATTTCCAAACCAATTTCACAGCGTTTATCCTATCTACACGCCACCCAAACTATTCAAAAAGATAAAATCTGAAAAATTTTGGGCTCTTTTTAAAAAGTATTTTTAATCAACTGATCTTTAATTAAAATAGCTATTTTAACCTTGCCTAAACAAAGAAATAATGGATTTAATGTGCTTCTTTATGTTACGTGCATATATCCAGGGGTCCCCAACCCCCAGGCCGTGAACCAGTACTGGTCAGTGGCCTGTTAGGAACGGGGCCGCGCAGCAGGAGGTGATCAGCGGGCCAGCAGGTGTTACCACCTGAGCTCTGCCTCCTCTCAGATCAATGGCTGCATTAGATTCTTACAGGAGTGTGAACCCTATTGTGAATTGCCTATGCGAGGAATCTATGTTCCACACTCCTTATGAGAATCTAATGCCTGATGATCTGTCACTGTCTCCCATCACCCCCAGATGGGACTTTCGTGTTGCACGAAAACAAGCTCAGGGCTCCCACTGATTCTACATTATGGTGAGTATATAATAATAACAGAAATAAAGTGCACAGTAAACGTAATGCACTTAAATGATCCTCCCTCCCCTGCCCCACCACCCTGCCCTGTCCATGGAAAAATTGTCTTCCACGAAACTGGTCCCTGGTGCCAAAAAGGTTGGAGACAGCCGCATATATGCACATAAATATACTAAAATATATAATGCACATTAAAATGAACACTTAACTATTGAAATAAAATATGTGTGTATGCCATTTTTTGGGAATCACTGTGAAGTTCTGTAAAAATCGATCTGTAAAACATCAATCAAGAAAACTGCTTTCTTAAAGAGGCTGCTTACTGTTTTGATGGCCATGATGAAGTTCACAGCTTCATCCCCTGCATTCTTCTGGAGAGCCCAAATCTCTTCTCATACAACACGAGGCAGATACCTGTCATTTAAAATAATCATCACTTTACACAAACAGCAATGCTGGAGTTGGAGTCTATGTTTAGCTGGTTATTAAAGACTCAATTCTATGCCTCTTAAAAGTGTGGGATTTTCTGAGAAAAGGCAACAGTCCAAGAATATTGAGGAAAAGCAGAGTCTGAGAGAAAGGGGACACCATCACTTTCTTTTTCTAGAAATTATCTCCAGGTCCAATGACTCATCACCTCAGAGTGTCATGATCAGAGATCCACTGTCCTGATCAAGTCACACAGGAGATCCAGGGGCCCTAGCAAAGGTGCTGCAGGGTCGGGTCTGCACTCTGCCTCTAACCCAGCTGTGTTTTTAGAGTCACTTATTGGATTCTATCTCCTGACATAATGAATTGGAAGCCATTCACCAGAGGAAGAGAAGGGAAGGGAATAATTATGTTCTAAACACCCATTACACGCCAGGTACTGGGCTAGCACTTCATATAGGGTTTTTTTTCCTTCCATTTCATCATTTTATTTAGAAGGAACCTTTTTACAAATAAAATTCTCAACTCTTCATTTCAAAACTTTTTACCTAGAGAAAAGTTGAAGGAATGGTAAAATGAATACCTGAATCCCCCGAACTCATCAACATCTTGCTGCCATTTCTTTCTCTTTGTGTGTATGTATGCATACAAGTGTATACGTGGTTGTGTGTGCTGAAGCATCTGAAAATAATTTTGAGCTCTCAGGTCACTTCACCGTTAAATACTTTAGCAGTAATGTCCTAAGAATAAAGCATTCTCCAACATAACCACAATGTCATTAACATCCCTAAGAACCTTAGCGACCATTCCATAAAAAATCTACTGTGTCCCATTTTAAAATGTTCCCCATTGTCCTAAAAATTATCTCTTGTAACCTTTTTTTTTTAAAAAAAGGACACAGGGCCGAGCGTGGTGGTTCACACCTGTAATCCCAACACTTCAGGAGGCTCGGGCAGGCAGACTGCTTGAGCCCAGGAGTTCGAGAATAGCCTGGGCAACATGGCAAAACGCTGTCTCTACAAAAAAATAAAAATAAAAAAATTATTCAGGCATGGCTACATGTGCCTGTAGTTCCAGCTACTCTGGAGGCTGAGGTGGGAAGATCTCTTGGGCCCAGGAGGCCGAGGTTGCAGTGGGCCGAGATCATACCACTGGCCACTGCACCCTAGCCTGAGTGACACAGTCTGGAAAAAAAAAATTATACAGGATTACTGCAACCAACTTTTTAGTGGTGGATAATTGGCTCTTGACTTATAAAGTAGGAGACTAGCATTAAAAAGGTAAACAAATGGCCTAAAATCATAAACCTGAGGAGTGAGAGTCAATTAGCTTAGTCAGCACCCACCCACAGCTTTTCCAACTACCTCCATGTTTTCCAAACTCTACTTATTTCTTCCCAGCCTTTCAAGGTTTCCCCGTATTTGTGTTCCACAGTGGTTGGCAGGTACACCACTGGGAATATGTGAGATAGCTCTGGATGGTACATGAACTTTAAAAATAATTAGTTACTCTGCTGGGCACAATGGCTCATGCTTGTAATCCCAGCACTCTCAGAGGTGGAGGTGGGAGCATCATCTGAGGTCAGGAGTTTGAGACCAACCGGTGGCAAAACCCCATCTCTACTTAAAAAACACAAAAGTTAGTCAGGCGTGGTATCGCACGCCTGCAATACCAGCACTTTGGGAGGCTGAGGTAAGTGGATCACCTGAGGTCAGCAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTGTACTAAAAAACACAAAAATCAGCCAGGCATGGTGGTGTGCACCTGTAGTCCCAGCTGCTCAGGATGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCGCTGCACTCCAGCCTGGGGCAGAGTGAGAGTCTGTCTCAAATAAGTAATTAAAAAAAGTTACTTATATTTATCTATTTATGGCAATATTTCTGACCTTGAATTTATGGAAN
pathogenic
314,921
Variant in gene CYP24A1 (cytochrome P450 family 24 subfamily A member 1), located at chromosome 20 position 54172927: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['Hypercalcemia,_infantile,_1']
AAAGAGATTACTTTATGCTTAAAACTCCCTTTGACTCCGTGCTGGCTAAGGGATAATGTCCAAATACCTTAGTATAATACAAAAATATTGTTAAGACCTATCCAGTATCATTTCAGAGAAAGCCTCACATCAGCTACACTAAATGACCGATTCTCTGAACACACCACGTCATTTCATGCCTCCCTGTTTTCAGAAGGCTACTCTGTCTGCCTTAATGCCTTCCCCCACTTTCTCTGCTTTCAGACTCCTCCTGCAAAACCCAGCTCAAATATCACTACTTAAGAACTTTACAATGTTATCTCATTTAATTCTCACAGCAAACCCGTGGGGTGGGAACTGTTACTCCCATTTTGTAGATGGGGAAACTGAGGCTTAGGGAAGGTAAGTGGTATATAGCCAGGTCTCATAGCCAGGGAGTGGAAAGCTGGGGTTCAAATCCAGGGCTGTAGAATACCAAAGTCCACACTCTCCATTGCTCCCTCATTGTGATATGACTTTAAAAGAGGGTGGAGGAGGGAGAAATAAGGGTTTGGTGGGGAGGAGGCTGTAGGAAGGAATGGAGAGAAAGAGAAGACCCCCACTTTGAATCACCCGAATTGCATTCTTTTTTCCTTTGTTCTTTGTAGCTGTGACTTGAAGCTCCACCAATATCCCTATGTCCCCACGAGCCCCAGGAAAGCTGGCCCCAGCCTGCAGACCTCATTGATTTTGTTGTCCAGCTTCATCACTTCCCCTGGTTTCATTAGTTTCTTTTGAAAGGCACTCCGGACCCGCTGCCAGTCTTCCCCTTCCCTGTGAGAGAAGCAGGAATACATTTAGAGCACACTGAAAAGAAAAGAAGGAGATGCAGAAATACTCCAGCTGCAACTTCAGGAACCATAAAATCAAACAAACACTGAGAATCATGCCAAGAAATAGCCAGAGAATATTAGCATCAGAATATTTGGGATAAAATAGTGATCATCTTTTGACAATAGTTTGACAATAGGATGAAAAAGCACCTTTCCTCCTAGTCAAAGATTGCACCAAAAAGTTGAAGTCCAGATAATTTGGGTTCAGGGATTTTGAGGTGTCCTTGCAGGGAGTGGGGCTGGGAGGCCTGGGGACAATTCCTAGCGGTAAAAGGGGGCATGTGAACACCCCATCACCAGCAACTCAGATCTGTTTGAGGGAAGAATCTTGTCTTCTTTCAACTCATTGGTGTGGGCTTCATATTTACAAAATATCTCAGATTTAGAATTTTGCCATCGCCTCCAAATAATAACATACAGTCAGAGAGTCACTGGAGTAATAAAAAGCCTTTTGCGATCGTGCACTTGTAGGCACCTGCCCCATAGCAGACCATACAGCCTGTGAAGCACCGTGAATTAATAGGGTTTTTAATTCCAGTCATTATATCCTGGAAAATATAACGATTAGGCATTACAGTTTGGGGGTAAATAAAGGTGCTAACTTGTTAAATGCTAACAACTAAAAAGCAGAAGAATCACATCCCATAGTAGCATTTGTCGACCTAAAACACAACTTTGATATCCCTCCTTATTCCACCTTTACAAGTAGAAATAAGGCATGTCCCCCAATCCTCTGCAGAAAATGTCACTGTAAAAAGCCAAAGAGGCTAACTCCTCGCTTTTGAGCTTACAAGGTGTTTCAGGGAGTTTTAAGGGATAATTTTGTTTGTATAAGATGTTTGCCTGGTACGCTGACTTCAGAACCTCATCCTGCCCAAGAGTCTGAACACCACAGTTGGTACAACCCTGTTTTGGCGTTTCTTTGATGGGAGGGTGTGGCCCTGCCCTGTTGCCAGAGAGAACGCAGGTGCTGGGTGCACAGCACGGCTTTTCCGTGGACCGACTCTAATCTGTACAAGAGCTCAGGGTTGCGATGGCACGGGAGAGGGGCTTTGGTATCCGCCCTACGTAAGAAGCTTCCAACCCCAGGGAACTCTAACTCCGCCTCTTCACAATTTCCAGGCGCCGTCAGGCTCATCAGGTCTGGCCGCATGCCCAGGTCCCTCGGATTGGACTCACAGGATCAGCAGCCCGTAGCCTTCTTTGCGGTAGTCGCGATAGGCCTTCCACGGTTTGATCTCCAGCCGCTGCGGGTACGCGCTCTCGGTGCGGTACAGCGCTTCCAGCAGGCATGGCGAGCCCAGGTGCACCGACTCAAAGGAACCCAACTTCATGCGGAAAATCTTGCCATACTTCTTGTGGTACTCCACCTGCAGCCGGCCGGGCACAGCGCGGTGTCAGCGCGCATCCTCCGCCGTGCCCGAAGCGCTTTCCCTCCTCCCGCCTCCTTCCTCCTAGGGGACCGGGGACCCTCCCTGCCCAGACGCCGAAGCGCACCATGCGCCCGAGGCGCGCATGTCGGGGAGGGTTTGGAGCGCCACTGGGAGGGCGGAAGAGGGAGGAGAGAGTCAGGGGCGCGAAAAGGGGTTTACCAGGGTGTCGTGCTGTTTCTTGAGACCCCCTTTCCAGAGAATCTGCAGCAGGCTGCCCAGCAGTGGCCAGCTGGTGGGGCCCGGCAGGGCGGCCGCGTTCTGAGTCTCGCCACCAGCTGTCAGCGGGCAGACTGGCACCTCTCGCGGCTGAGGGGACGTGTACGCCGTAGATGTCACCAGTCTCGGGGGCTGCCTCGGACTGCGCAGCTGCTGCAGGAAGGCGGCAAGCGAGCGGCTCTTGCTGATGGGGGAGCTCATGGCAGCGGGGGACACCGGAGCGCGGGAAGGCAGGAGGATGGGGTGGGGCGAGGTTGGTACGAGGTGCTAGTGGGAGTCGGGGCTTAACGATTCTGGGAAAAGGAAGCAAAGAGGGCCAGCTGGTGTGATGGAGCGGGGTGAGGCGGGACAGGCAGCAGAAAGGACCTCGGCGAGGATGCTCGACGCTGCACCACGCGACAGCCTCAGAGCATTGGTGCCTCCTTGCACTGGCCGCAGGGGCTGGAAGAGGGTGGCCGGTGTCTGGGGACCTCTTGAAAAGGGAAAGCTGGGAGTCCTCCTGTTGGTCCGCAAGGCTGACCTCTAGGGTCTGGCTGGAGCCACGGGGAGGTGTCAAGGAGGGTAGATGAGATGCTGCTGGCGCTGCGTTTCCTCCTGTCCCTCTCCATGTTCCTATGCCCAGGGACCATGCATTTATGGAGACAGAGCATGCCCTGGGTGGCCAATGAGCACGCAGAGGAGGGCGGAGTGGCCCCCGGCTGGCCAGACTCCGAGGGACGCGGGACCCAGGGGAGGGGGGGTGGAAGGAGGATGGAGTCAGCGAGGTGAGCGAGGGCGTCCGGGCCTGGGGTGACCGGGGCTATGTTCGCTGGGCGCGGGAGGTGGGGTGGGGGCGGCAGACTCCACCCCGGAGATAACCCCCAGGAAGTCATGCGAAGCCCGGAGTTCACCGGGTGTGCTTCGAACGCGCCTCCCCGCCCTCCCCCGGCGGGCAGGAGCCGGCAGCGGCGGCCGTGGTTGCCGCCCGGCGCTTGCACAATCGCGATGCCGGGCGGGCGAGGTCCCCGAGTGCGGGCCCAGAAAAGCTGCCGGCGTCTGCCAGGGCCCCGGGGAGCCCGGGCGCCTCCCGGGGAGCCAGATACCCCCAGCCTGGACTGAAGTGATTTTTTTTTTTTTTTTGCCTTTTTTTTTTTGGAGGAAGTTTGGCTTTCTGCGCCTCCCAGGGTGGGGAGGATTTGAGTCTTACTGAAATGCACCAGAAGAGGAGACTTTCTTAACTTGAGCAAGAAGGGGAGTTTGTAGAATTTCCTTCCTGCTGTTTCATGTTTGGTTGTTTTGCAGATTAAATGAATTAATGCACGTAAAGCGGCAACAACGAAGCCTTGTCTATAGTCAACAGTCAATAAAAGTTAGTTGCTGTTGTTACTTCTTTAGGAAGTTAGGAAATGCGCCTTGAGAGCGTGGCTTGCACCAACGATGCTTGAATTCAGGCTGGGCCACCTCCCCTATGTCCACTGCCCGCCTCTGTTCTTCTACACCGACTACCTTGTGCAAAGGAGGGGCACACAGAGCTTGAAACCACCGCCCCCAGTACTCCCCCTCTCCCCCAAGGTGCGTCCTAGGCAGGTCCAGTGACAAACATACACAATTTCTAGA
AAAGAGATTACTTTATGCTTAAAACTCCCTTTGACTCCGTGCTGGCTAAGGGATAATGTCCAAATACCTTAGTATAATACAAAAATATTGTTAAGACCTATCCAGTATCATTTCAGAGAAAGCCTCACATCAGCTACACTAAATGACCGATTCTCTGAACACACCACGTCATTTCATGCCTCCCTGTTTTCAGAAGGCTACTCTGTCTGCCTTAATGCCTTCCCCCACTTTCTCTGCTTTCAGACTCCTCCTGCAAAACCCAGCTCAAATATCACTACTTAAGAACTTTACAATGTTATCTCATTTAATTCTCACAGCAAACCCGTGGGGTGGGAACTGTTACTCCCATTTTGTAGATGGGGAAACTGAGGCTTAGGGAAGGTAAGTGGTATATAGCCAGGTCTCATAGCCAGGGAGTGGAAAGCTGGGGTTCAAATCCAGGGCTGTAGAATACCAAAGTCCACACTCTCCATTGCTCCCTCATTGTGATATGACTTTAAAAGAGGGTGGAGGAGGGAGAAATAAGGGTTTGGTGGGGAGGAGGCTGTAGGAAGGAATGGAGAGAAAGAGAAGACCCCCACTTTGAATCACCCGAATTGCATTCTTTTTTCCTTTGTTCTTTGTAGCTGTGACTTGAAGCTCCACCAATATCCCTATGTCCCCACGAGCCCCAGGAAAGCTGGCCCCAGCCTGCAGACCTCATTGATTTTGTTGTCCAGCTTCATCACTTCCCCTGGTTTCATTAGTTTCTTTTGAAAGGCACTCCGGACCCGCTGCCAGTCTTCCCCTTCCCTGTGAGAGAAGCAGGAATACATTTAGAGCACACTGAAAAGAAAAGAAGGAGATGCAGAAATACTCCAGCTGCAACTTCAGGAACCATAAAATCAAACAAACACTGAGAATCATGCCAAGAAATAGCCAGAGAATATTAGCATCAGAATATTTGGGATAAAATAGTGATCATCTTTTGACAATAGTTTGACAATAGGATGAAAAAGCACCTTTCCTCCTAGTCAAAGATTGCACCAAAAAGTTGAAGTCCAGATAATTTGGGTTCAGGGATTTTGAGGTGTCCTTGCAGGGAGTGGGGCTGGGAGGCCTGGGGACAATTCCTAGCGGTAAAAGGGGGCATGTGAACACCCCATCACCAGCAACTCAGATCTGTTTGAGGGAAGAATCTTGTCTTCTTTCAACTCATTGGTGTGGGCTTCATATTTACAAAATATCTCAGATTTAGAATTTTGCCATCGCCTCCAAATAATAACATACAGTCAGAGAGTCACTGGAGTAATAAAAAGCCTTTTGCGATCGTGCACTTGTAGGCACCTGCCCCATAGCAGACCATACAGCCTGTGAAGCACCGTGAATTAATAGGGTTTTTAATTCCAGTCATTATATCCTGGAAAATATAACGATTAGGCATTACAGTTTGGGGGTAAATAAAGGTGCTAACTTGTTAAATGCTAACAACTAAAAAGCAGAAGAATCACATCCCATAGTAGCATTTGTCGACCTAAAACACAACTTTGATATCCCTCCTTATTCCACCTTTACAAGTAGAAATAAGGCATGTCCCCCAATCCTCTGCAGAAAATGTCACTGTAAAAAGCCAAAGAGGCTAACTCCTCGCTTTTGAGCTTACAAGGTGTTTCAGGGAGTTTTAAGGGATAATTTTGTTTGTATAAGATGTTTGCCTGGTACGCTGACTTCAGAACCTCATCCTGCCCAAGAGTCTGAACACCACAGTTGGTACAACCCTGTTTTGGCGTTTCTTTGATGGGAGGGTGTGGCCCTGCCCTGTTGCCAGAGAGAACGCAGGTGCTGGGTGCACAGCACGGCTTTTCCGTGGACCGACTCTAATCTGTACAAGAGCTCAGGGTTGCGATGGCACGGGAGAGGGGCTTTGGTATCCGCCCTACGTAAGAAGCTTCCAACCCCAGGGAACTCTAACTCCGCCTCTTCACAATTTCCAGGCGCCGTCAGGCTCATCAGGTCTGGCCGCATGCCCAGGTCCCTCGGATTGGACTCACAGGATCAGCAGCCCGTAGCCTTTGCGGTAGTCGCGATAGGCCTTCCACGGTTTGATCTCCAGCCGCTGCGGGTACGCGCTCTCGGTGCGGTACAGCGCTTCCAGCAGGCATGGCGAGCCCAGGTGCACCGACTCAAAGGAACCCAACTTCATGCGGAAAATCTTGCCATACTTCTTGTGGTACTCCACCTGCAGCCGGCCGGGCACAGCGCGGTGTCAGCGCGCATCCTCCGCCGTGCCCGAAGCGCTTTCCCTCCTCCCGCCTCCTTCCTCCTAGGGGACCGGGGACCCTCCCTGCCCAGACGCCGAAGCGCACCATGCGCCCGAGGCGCGCATGTCGGGGAGGGTTTGGAGCGCCACTGGGAGGGCGGAAGAGGGAGGAGAGAGTCAGGGGCGCGAAAAGGGGTTTACCAGGGTGTCGTGCTGTTTCTTGAGACCCCCTTTCCAGAGAATCTGCAGCAGGCTGCCCAGCAGTGGCCAGCTGGTGGGGCCCGGCAGGGCGGCCGCGTTCTGAGTCTCGCCACCAGCTGTCAGCGGGCAGACTGGCACCTCTCGCGGCTGAGGGGACGTGTACGCCGTAGATGTCACCAGTCTCGGGGGCTGCCTCGGACTGCGCAGCTGCTGCAGGAAGGCGGCAAGCGAGCGGCTCTTGCTGATGGGGGAGCTCATGGCAGCGGGGGACACCGGAGCGCGGGAAGGCAGGAGGATGGGGTGGGGCGAGGTTGGTACGAGGTGCTAGTGGGAGTCGGGGCTTAACGATTCTGGGAAAAGGAAGCAAAGAGGGCCAGCTGGTGTGATGGAGCGGGGTGAGGCGGGACAGGCAGCAGAAAGGACCTCGGCGAGGATGCTCGACGCTGCACCACGCGACAGCCTCAGAGCATTGGTGCCTCCTTGCACTGGCCGCAGGGGCTGGAAGAGGGTGGCCGGTGTCTGGGGACCTCTTGAAAAGGGAAAGCTGGGAGTCCTCCTGTTGGTCCGCAAGGCTGACCTCTAGGGTCTGGCTGGAGCCACGGGGAGGTGTCAAGGAGGGTAGATGAGATGCTGCTGGCGCTGCGTTTCCTCCTGTCCCTCTCCATGTTCCTATGCCCAGGGACCATGCATTTATGGAGACAGAGCATGCCCTGGGTGGCCAATGAGCACGCAGAGGAGGGCGGAGTGGCCCCCGGCTGGCCAGACTCCGAGGGACGCGGGACCCAGGGGAGGGGGGGTGGAAGGAGGATGGAGTCAGCGAGGTGAGCGAGGGCGTCCGGGCCTGGGGTGACCGGGGCTATGTTCGCTGGGCGCGGGAGGTGGGGTGGGGGCGGCAGACTCCACCCCGGAGATAACCCCCAGGAAGTCATGCGAAGCCCGGAGTTCACCGGGTGTGCTTCGAACGCGCCTCCCCGCCCTCCCCCGGCGGGCAGGAGCCGGCAGCGGCGGCCGTGGTTGCCGCCCGGCGCTTGCACAATCGCGATGCCGGGCGGGCGAGGTCCCCGAGTGCGGGCCCAGAAAAGCTGCCGGCGTCTGCCAGGGCCCCGGGGAGCCCGGGCGCCTCCCGGGGAGCCAGATACCCCCAGCCTGGACTGAAGTGATTTTTTTTTTTTTTTTGCCTTTTTTTTTTTGGAGGAAGTTTGGCTTTCTGCGCCTCCCAGGGTGGGGAGGATTTGAGTCTTACTGAAATGCACCAGAAGAGGAGACTTTCTTAACTTGAGCAAGAAGGGGAGTTTGTAGAATTTCCTTCCTGCTGTTTCATGTTTGGTTGTTTTGCAGATTAAATGAATTAATGCACGTAAAGCGGCAACAACGAAGCCTTGTCTATAGTCAACAGTCAATAAAAGTTAGTTGCTGTTGTTACTTCTTTAGGAAGTTAGGAAATGCGCCTTGAGAGCGTGGCTTGCACCAACGATGCTTGAATTCAGGCTGGGCCACCTCCCCTATGTCCACTGCCCGCCTCTGTTCTTCTACACCGACTACCTTGTGCAAAGGAGGGGCACACAGAGCTTGAAACCACCGCCCCCAGTACTCCCCCTCTCCCCCAAGGTGCGTCCTAGGCAGGTCCAGTGACAAACATACACAATTTCTAGANNN
pathogenic
314,940
A mutation at chromosome position 54173517 on chromosome 20 in gene CYP24A1 (cytochrome P450 family 24 subfamily A member 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Hypercalcemia,_infantile,_1', 'Inborn_genetic_diseases']
CCCGAATTGCATTCTTTTTTCCTTTGTTCTTTGTAGCTGTGACTTGAAGCTCCACCAATATCCCTATGTCCCCACGAGCCCCAGGAAAGCTGGCCCCAGCCTGCAGACCTCATTGATTTTGTTGTCCAGCTTCATCACTTCCCCTGGTTTCATTAGTTTCTTTTGAAAGGCACTCCGGACCCGCTGCCAGTCTTCCCCTTCCCTGTGAGAGAAGCAGGAATACATTTAGAGCACACTGAAAAGAAAAGAAGGAGATGCAGAAATACTCCAGCTGCAACTTCAGGAACCATAAAATCAAACAAACACTGAGAATCATGCCAAGAAATAGCCAGAGAATATTAGCATCAGAATATTTGGGATAAAATAGTGATCATCTTTTGACAATAGTTTGACAATAGGATGAAAAAGCACCTTTCCTCCTAGTCAAAGATTGCACCAAAAAGTTGAAGTCCAGATAATTTGGGTTCAGGGATTTTGAGGTGTCCTTGCAGGGAGTGGGGCTGGGAGGCCTGGGGACAATTCCTAGCGGTAAAAGGGGGCATGTGAACACCCCATCACCAGCAACTCAGATCTGTTTGAGGGAAGAATCTTGTCTTCTTTCAACTCATTGGTGTGGGCTTCATATTTACAAAATATCTCAGATTTAGAATTTTGCCATCGCCTCCAAATAATAACATACAGTCAGAGAGTCACTGGAGTAATAAAAAGCCTTTTGCGATCGTGCACTTGTAGGCACCTGCCCCATAGCAGACCATACAGCCTGTGAAGCACCGTGAATTAATAGGGTTTTTAATTCCAGTCATTATATCCTGGAAAATATAACGATTAGGCATTACAGTTTGGGGGTAAATAAAGGTGCTAACTTGTTAAATGCTAACAACTAAAAAGCAGAAGAATCACATCCCATAGTAGCATTTGTCGACCTAAAACACAACTTTGATATCCCTCCTTATTCCACCTTTACAAGTAGAAATAAGGCATGTCCCCCAATCCTCTGCAGAAAATGTCACTGTAAAAAGCCAAAGAGGCTAACTCCTCGCTTTTGAGCTTACAAGGTGTTTCAGGGAGTTTTAAGGGATAATTTTGTTTGTATAAGATGTTTGCCTGGTACGCTGACTTCAGAACCTCATCCTGCCCAAGAGTCTGAACACCACAGTTGGTACAACCCTGTTTTGGCGTTTCTTTGATGGGAGGGTGTGGCCCTGCCCTGTTGCCAGAGAGAACGCAGGTGCTGGGTGCACAGCACGGCTTTTCCGTGGACCGACTCTAATCTGTACAAGAGCTCAGGGTTGCGATGGCACGGGAGAGGGGCTTTGGTATCCGCCCTACGTAAGAAGCTTCCAACCCCAGGGAACTCTAACTCCGCCTCTTCACAATTTCCAGGCGCCGTCAGGCTCATCAGGTCTGGCCGCATGCCCAGGTCCCTCGGATTGGACTCACAGGATCAGCAGCCCGTAGCCTTCTTTGCGGTAGTCGCGATAGGCCTTCCACGGTTTGATCTCCAGCCGCTGCGGGTACGCGCTCTCGGTGCGGTACAGCGCTTCCAGCAGGCATGGCGAGCCCAGGTGCACCGACTCAAAGGAACCCAACTTCATGCGGAAAATCTTGCCATACTTCTTGTGGTACTCCACCTGCAGCCGGCCGGGCACAGCGCGGTGTCAGCGCGCATCCTCCGCCGTGCCCGAAGCGCTTTCCCTCCTCCCGCCTCCTTCCTCCTAGGGGACCGGGGACCCTCCCTGCCCAGACGCCGAAGCGCACCATGCGCCCGAGGCGCGCATGTCGGGGAGGGTTTGGAGCGCCACTGGGAGGGCGGAAGAGGGAGGAGAGAGTCAGGGGCGCGAAAAGGGGTTTACCAGGGTGTCGTGCTGTTTCTTGAGACCCCCTTTCCAGAGAATCTGCAGCAGGCTGCCCAGCAGTGGCCAGCTGGTGGGGCCCGGCAGGGCGGCCGCGTTCTGAGTCTCGCCACCAGCTGTCAGCGGGCAGACTGGCACCTCTCGCGGCTGAGGGGACGTGTACGCCGTAGATGTCACCAGTCTCGGGGGCTGCCTCGGACTGCGCAGCTGCTGCAGGAAGGCGGCAAGCGAGCGGCTCTTGCTGATGGGGGAGCTCATGGCAGCGGGGGACACCGGAGCGCGGGAAGGCAGGAGGATGGGGTGGGGCGAGGTTGGTACGAGGTGCTAGTGGGAGTCGGGGCTTAACGATTCTGGGAAAAGGAAGCAAAGAGGGCCAGCTGGTGTGATGGAGCGGGGTGAGGCGGGACAGGCAGCAGAAAGGACCTCGGCGAGGATGCTCGACGCTGCACCACGCGACAGCCTCAGAGCATTGGTGCCTCCTTGCACTGGCCGCAGGGGCTGGAAGAGGGTGGCCGGTGTCTGGGGACCTCTTGAAAAGGGAAAGCTGGGAGTCCTCCTGTTGGTCCGCAAGGCTGACCTCTAGGGTCTGGCTGGAGCCACGGGGAGGTGTCAAGGAGGGTAGATGAGATGCTGCTGGCGCTGCGTTTCCTCCTGTCCCTCTCCATGTTCCTATGCCCAGGGACCATGCATTTATGGAGACAGAGCATGCCCTGGGTGGCCAATGAGCACGCAGAGGAGGGCGGAGTGGCCCCCGGCTGGCCAGACTCCGAGGGACGCGGGACCCAGGGGAGGGGGGGTGGAAGGAGGATGGAGTCAGCGAGGTGAGCGAGGGCGTCCGGGCCTGGGGTGACCGGGGCTATGTTCGCTGGGCGCGGGAGGTGGGGTGGGGGCGGCAGACTCCACCCCGGAGATAACCCCCAGGAAGTCATGCGAAGCCCGGAGTTCACCGGGTGTGCTTCGAACGCGCCTCCCCGCCCTCCCCCGGCGGGCAGGAGCCGGCAGCGGCGGCCGTGGTTGCCGCCCGGCGCTTGCACAATCGCGATGCCGGGCGGGCGAGGTCCCCGAGTGCGGGCCCAGAAAAGCTGCCGGCGTCTGCCAGGGCCCCGGGGAGCCCGGGCGCCTCCCGGGGAGCCAGATACCCCCAGCCTGGACTGAAGTGATTTTTTTTTTTTTTTTGCCTTTTTTTTTTTGGAGGAAGTTTGGCTTTCTGCGCCTCCCAGGGTGGGGAGGATTTGAGTCTTACTGAAATGCACCAGAAGAGGAGACTTTCTTAACTTGAGCAAGAAGGGGAGTTTGTAGAATTTCCTTCCTGCTGTTTCATGTTTGGTTGTTTTGCAGATTAAATGAATTAATGCACGTAAAGCGGCAACAACGAAGCCTTGTCTATAGTCAACAGTCAATAAAAGTTAGTTGCTGTTGTTACTTCTTTAGGAAGTTAGGAAATGCGCCTTGAGAGCGTGGCTTGCACCAACGATGCTTGAATTCAGGCTGGGCCACCTCCCCTATGTCCACTGCCCGCCTCTGTTCTTCTACACCGACTACCTTGTGCAAAGGAGGGGCACACAGAGCTTGAAACCACCGCCCCCAGTACTCCCCCTCTCCCCCAAGGTGCGTCCTAGGCAGGTCCAGTGACAAACATACACAATTTCTAGAGTTACCGCGGCTGGCAAGAGTAGAACTCGCTTTGCTAATTCAGGAACGGAAGTTGGAGATTTTTGTTGATTGTTTTAAAGTGGCTCGAATCCTTTCAACCTGATCCAATACAAAACTACCACCAGCCAGGGAGGAGGGGAGGGACATTCTGTTTCCTCGCCCTGCTTTTCAATTACGTGTCTCAGTCATTTTTGCCCCAAGTGTTGGCAAATCCTTCCCTGGTAAATTCTTTTGTAAGCCTCTAGTTTGTTTCTTAAAAATCTTTTGCAGTCCAACTTAAGCTTTAACACCATCATTTCTGATTTGTCTGGAGGGGCTAATGACTGTTTATGTTAATAAAAATAATAGCTATTGATATATACTAAACTTTATGAATCTTGTACATATTTATATATACATTGTATGGTATATATGTTACAGCATACACTATAGATTATGTTATATGCAATACACACTAAATATACATAATATAGTATAGATTGCATACAGTATGTAGATTCCATATGTTATATAATATTCTCATGAAAGCTTTCTAGGGCTTATGATAAGTCAGGCACTGAGCTAGACATTTTACATCATTTTTTCCGTTT
CCCGAATTGCATTCTTTTTTCCTTTGTTCTTTGTAGCTGTGACTTGAAGCTCCACCAATATCCCTATGTCCCCACGAGCCCCAGGAAAGCTGGCCCCAGCCTGCAGACCTCATTGATTTTGTTGTCCAGCTTCATCACTTCCCCTGGTTTCATTAGTTTCTTTTGAAAGGCACTCCGGACCCGCTGCCAGTCTTCCCCTTCCCTGTGAGAGAAGCAGGAATACATTTAGAGCACACTGAAAAGAAAAGAAGGAGATGCAGAAATACTCCAGCTGCAACTTCAGGAACCATAAAATCAAACAAACACTGAGAATCATGCCAAGAAATAGCCAGAGAATATTAGCATCAGAATATTTGGGATAAAATAGTGATCATCTTTTGACAATAGTTTGACAATAGGATGAAAAAGCACCTTTCCTCCTAGTCAAAGATTGCACCAAAAAGTTGAAGTCCAGATAATTTGGGTTCAGGGATTTTGAGGTGTCCTTGCAGGGAGTGGGGCTGGGAGGCCTGGGGACAATTCCTAGCGGTAAAAGGGGGCATGTGAACACCCCATCACCAGCAACTCAGATCTGTTTGAGGGAAGAATCTTGTCTTCTTTCAACTCATTGGTGTGGGCTTCATATTTACAAAATATCTCAGATTTAGAATTTTGCCATCGCCTCCAAATAATAACATACAGTCAGAGAGTCACTGGAGTAATAAAAAGCCTTTTGCGATCGTGCACTTGTAGGCACCTGCCCCATAGCAGACCATACAGCCTGTGAAGCACCGTGAATTAATAGGGTTTTTAATTCCAGTCATTATATCCTGGAAAATATAACGATTAGGCATTACAGTTTGGGGGTAAATAAAGGTGCTAACTTGTTAAATGCTAACAACTAAAAAGCAGAAGAATCACATCCCATAGTAGCATTTGTCGACCTAAAACACAACTTTGATATCCCTCCTTATTCCACCTTTACAAGTAGAAATAAGGCATGTCCCCCAATCCTCTGCAGAAAATGTCACTGTAAAAAGCCAAAGAGGCTAACTCCTCGCTTTTGAGCTTACAAGGTGTTTCAGGGAGTTTTAAGGGATAATTTTGTTTGTATAAGATGTTTGCCTGGTACGCTGACTTCAGAACCTCATCCTGCCCAAGAGTCTGAACACCACAGTTGGTACAACCCTGTTTTGGCGTTTCTTTGATGGGAGGGTGTGGCCCTGCCCTGTTGCCAGAGAGAACGCAGGTGCTGGGTGCACAGCACGGCTTTTCCGTGGACCGACTCTAATCTGTACAAGAGCTCAGGGTTGCGATGGCACGGGAGAGGGGCTTTGGTATCCGCCCTACGTAAGAAGCTTCCAACCCCAGGGAACTCTAACTCCGCCTCTTCACAATTTCCAGGCGCCGTCAGGCTCATCAGGTCTGGCCGCATGCCCAGGTCCCTCGGATTGGACTCACAGGATCAGCAGCCCGTAGCCTTCTTTGCGGTAGTCGCGATAGGCCTTCCACGGTTTGATCTCCAGCCGCTGCGGGTACGCGCTCTCGGTGCGGTACAGCGCTTCCAGCAGGCATGGCGAGCCCAGGTGCACCGACTCAAAGGAACCCAACTTCATGCGGAAAATCTTGCCATACTTCTTGTGGTACTCCACCTGCAGCCGGCCGGGCACAGCGCGGTGTCAGCGCGCATCCTCCGCCGTGCCCGAAGCGCTTTCCCTCCTCCCGCCTCCTTCCTCCTAGGGGACCGGGGACCCTCCCTGCCCAGACGCCGAAGCGCACCATGCGCCCGAGGCGCGCATGTCGGGGAGGGTTTGGAGCGCCACTGGGAGGGCGGAAGAGGGAGGAGAGAGTCAGGGGCGCGAAAAGGGGTTTACCAGGGTGTCGTGCTGTTTCTTGAGACCCCCTTTCCAGAGAATCTGCAGCAGGCTGCCCAGCAGTGGCCAGCTGGTGGGGCCCGGCAGGGCGGCCGCGTTCTGAGTCTCGCCACCAGCTGTCAGCGGGCAGACTGGCACCTCTCGCGGCTGAGGGGACGTGTACGCCGTAGATGTCACCAGTCTCGGGGGCTGCCTCGACTGCGCAGCTGCTGCAGGAAGGCGGCAAGCGAGCGGCTCTTGCTGATGGGGGAGCTCATGGCAGCGGGGGACACCGGAGCGCGGGAAGGCAGGAGGATGGGGTGGGGCGAGGTTGGTACGAGGTGCTAGTGGGAGTCGGGGCTTAACGATTCTGGGAAAAGGAAGCAAAGAGGGCCAGCTGGTGTGATGGAGCGGGGTGAGGCGGGACAGGCAGCAGAAAGGACCTCGGCGAGGATGCTCGACGCTGCACCACGCGACAGCCTCAGAGCATTGGTGCCTCCTTGCACTGGCCGCAGGGGCTGGAAGAGGGTGGCCGGTGTCTGGGGACCTCTTGAAAAGGGAAAGCTGGGAGTCCTCCTGTTGGTCCGCAAGGCTGACCTCTAGGGTCTGGCTGGAGCCACGGGGAGGTGTCAAGGAGGGTAGATGAGATGCTGCTGGCGCTGCGTTTCCTCCTGTCCCTCTCCATGTTCCTATGCCCAGGGACCATGCATTTATGGAGACAGAGCATGCCCTGGGTGGCCAATGAGCACGCAGAGGAGGGCGGAGTGGCCCCCGGCTGGCCAGACTCCGAGGGACGCGGGACCCAGGGGAGGGGGGGTGGAAGGAGGATGGAGTCAGCGAGGTGAGCGAGGGCGTCCGGGCCTGGGGTGACCGGGGCTATGTTCGCTGGGCGCGGGAGGTGGGGTGGGGGCGGCAGACTCCACCCCGGAGATAACCCCCAGGAAGTCATGCGAAGCCCGGAGTTCACCGGGTGTGCTTCGAACGCGCCTCCCCGCCCTCCCCCGGCGGGCAGGAGCCGGCAGCGGCGGCCGTGGTTGCCGCCCGGCGCTTGCACAATCGCGATGCCGGGCGGGCGAGGTCCCCGAGTGCGGGCCCAGAAAAGCTGCCGGCGTCTGCCAGGGCCCCGGGGAGCCCGGGCGCCTCCCGGGGAGCCAGATACCCCCAGCCTGGACTGAAGTGATTTTTTTTTTTTTTTTGCCTTTTTTTTTTTGGAGGAAGTTTGGCTTTCTGCGCCTCCCAGGGTGGGGAGGATTTGAGTCTTACTGAAATGCACCAGAAGAGGAGACTTTCTTAACTTGAGCAAGAAGGGGAGTTTGTAGAATTTCCTTCCTGCTGTTTCATGTTTGGTTGTTTTGCAGATTAAATGAATTAATGCACGTAAAGCGGCAACAACGAAGCCTTGTCTATAGTCAACAGTCAATAAAAGTTAGTTGCTGTTGTTACTTCTTTAGGAAGTTAGGAAATGCGCCTTGAGAGCGTGGCTTGCACCAACGATGCTTGAATTCAGGCTGGGCCACCTCCCCTATGTCCACTGCCCGCCTCTGTTCTTCTACACCGACTACCTTGTGCAAAGGAGGGGCACACAGAGCTTGAAACCACCGCCCCCAGTACTCCCCCTCTCCCCCAAGGTGCGTCCTAGGCAGGTCCAGTGACAAACATACACAATTTCTAGAGTTACCGCGGCTGGCAAGAGTAGAACTCGCTTTGCTAATTCAGGAACGGAAGTTGGAGATTTTTGTTGATTGTTTTAAAGTGGCTCGAATCCTTTCAACCTGATCCAATACAAAACTACCACCAGCCAGGGAGGAGGGGAGGGACATTCTGTTTCCTCGCCCTGCTTTTCAATTACGTGTCTCAGTCATTTTTGCCCCAAGTGTTGGCAAATCCTTCCCTGGTAAATTCTTTTGTAAGCCTCTAGTTTGTTTCTTAAAAATCTTTTGCAGTCCAACTTAAGCTTTAACACCATCATTTCTGATTTGTCTGGAGGGGCTAATGACTGTTTATGTTAATAAAAATAATAGCTATTGATATATACTAAACTTTATGAATCTTGTACATATTTATATATACATTGTATGGTATATATGTTACAGCATACACTATAGATTATGTTATATGCAATACACACTAAATATACATAATATAGTATAGATTGCATACAGTATGTAGATTCCATATGTTATATAATATTCTCATGAAAGCTTTCTAGGGCTTATGATAAGTCAGGCACTGAGCTAGACATTTTACATCATTTTTTCCGTTTN
pathogenic
314,951
Determine whether the variant at chromosome 20, position 58389302, in gene VAPB is benign or pathogenic. If pathogenic, identify the relevant disease(s).
benign
GCAAGCAAGCCAAAATATCTGTCAAGAACAAGGGCAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGCGGCTGAAGCAGGAGGATCACTTGAGCCCAGGAGTTTGAAACCAGCCTGGGCAACATAGTGAGATTTTACAGAAAATAAAAAAATTAGCTGGGCGTGGTGGTGCATGCTTTTAGTCCCAGCTACACCGGAGTCTGAGGTGGGAGGATTGTTTCAGCCTGGGAGATACAGGTTGCAGTGAGCCACGATCATGCCACTGCACTCCAGCATGGGCAACAGAGCAAGACCTCATCTCCAAATAAATAAATAAATAAAATAAAAACAACAAAAGGCAAAAATGAATCCATTTGCAGATGAGCAGAAACTGAGAGGATTTGCACCAACGAAGCTACAAAAAAATAAAATTTAAAGGATTTACCTCAGGCAAAAGGAGAGTGATCCTGTTGGTGAAAGCTGAGATGCAAGAAGAAAAGGTGGATAAAAATGGTAATTGTGTGGCTGAATCTAAACTAATGTTGACTGAATAAAACAATTTAGTAATGTCTCTTGGGGTTACAGTGGCAAAGGTTAAACTTAACATACACTACATTAAGGTGTATAATTTAGAGGATGGGTGATTAAAGTACTCCAAAGTCTTTATATTTTAAGGAAACAGGGTAAAGACATTTTTACAAATATTTAAAGATATTGGACTTTCACAAGGTAAGTATGCATGCCCAAAAGTTTGAAGTAACCACTAAAACTTAGAAATAGAGTATACAGGTGAAGAAAATCAGAATGAGAATAAAAATAAACCCTAAAGAAGAAAGGAAAGGGGAAAAAAACCAGGCAGGACAAATAGAAATAACAAAATACAATGGTAGAAATAATTCCAGATATATCAGTAAATATAATAAATGTAAATGGACTAAATGCTCCAGTTAAAATACAAAGACTATTCTTTTAAAAAACCTTTTTATCATGAAAAATTTCAAGTATACAGCAAAGTGGGAGAAACAGTACAAGAAAACCATATACCTGCGATGTAGAGTCAGCCATTGCTAGCAATTTGCCACATTTGTCTCACCTATATGGGTATGTATAGGAGACTATTAAGAACACCTATTTAACTTCCATAGTAAACATAATATAATGAAATACAATTTAAACGGTAATCATGATGTAGAGTATCCACTTTTGAGGTCAAGCAGATCTGGATTCTCCAGCAATTTTTAATTATTTAACTTACGTGTGTGGTTATTTATTCAAAAGATGTCTCTTCACTAGGCTATAGTAAAAGGATTGGAATCAGGTTCGCTTTTCTGATCATTGTATTTCTAAATATTTGTTGCATAAACAAATAGAATTTACTAGTAAAGAATTCAGCACAGTGCCAGTTGCATAGTAAACATTTAACGTAGAGTAGCTTGTATTTATTGTAGTTGCTGTTGTTATTGGAAGCATTCAGTAGAGTGATACAAAATAAATAAGCAATAATTGGTAGTTTATTATATTTATAATTATTATTTACAAGACGTCACAGTGCCTAGCCCATATCACTCACCCATAAACATTATACTTATACTAAGTACTTTCACTATTATTCAAAGTCTCTAACAGTGCCTGGCACTACATAAGCAAGAGAAAAGTGGAAGTTTATTCTAATTGTTATTATTGAATAAAGCACTTAACACGAAGCTGGCCCCCAGCGGGCCCTTAATAGTTTCCGCGGTGGCTGTCGTAGCTGGACTACAGACCCCGCCTCCTGAGCGGCCCGAAGCCCCGCCCCTTACTGCCCCGCAGTCCCGCCCCCGTGGCTTGTGCCGCGCCTGCGCACTGTCCCGGAAGGGGCTCTACGCGCGCAGCTTTAGTCCCCGCCCCTGGAGCCGGCGGCGCAGGGCGCAGCTTCCCGCCGCCAGAGCGGGCCAGCCTGCTGCGTGCGTGCGTGTGTACGACTCTGCGTGCGTGCGTGCGTGCGTGCGTGCCGTCAGCTCGCCGGGCACCGCGGCCTCGCCCTCGCCCTCCGCCCCTGCGCCTGCACCGCGTAGACCGACCCCCCCCCAGCGCGCCCACCCGGTAGAGGACCCCCGCCCGTGCCCCGACCGGTCCCCGCCTTTTTGTAAAACTTAAAGCGGGCGCAGCATTAACGCTTCCCGCCCCGGTGACCTCTCAGGGGTCTCCCCGCCAAAGGTGCTCCGCCGCTAAGGAACATGGCGAAGGTGGAGCAGGTCCTGAGCCTCGAGCCGCAGCACGAGCTCAAATTCCGAGGTAAGCCCCAGAGGCCGCCACCTTCCTGCCCGCGGCCTCCGCCCCAGTGCTGGAAGGACGGAGCCCGGCGCGGCGGGTGACGTCGGCCCTCGTCCCCACCCCGACGGCGCTGTCGCGGGGGGCGGCGAGGCCGGGCCGGGCCTTGGCGCTCGCCGCGCTCCCCAGAACTGCCCGGAGTGGCCGGGACCCGAGAGGGCTGGTGCGGGAGCCGGGGCCTGCGCCTCCTCCCCGACCCCCAGCCTCCTGGGACTTGCCTTCGAGGCACTTGTCACTTTGTAACTTACCAGTTTGTGATCCTCTCTAGTGTGAGCCTCCGCCGCTGCCTTTGCCTAGAAGTTTCTTCCCCTGCTCCGTGACAGTGTTGACCTCAGGGCTTAGTTGAGGTGTCAGCTGCTCAGAGAGGCCTGCTGTGACCACCCAGCCACCGTGCACACCTGCTGTCATTCCCTATTCCGTCACTGTTTCGTGGTCAGCACGGCACTTTTCATACCCAAAATCACTGTTTCAATACTAGAAGGGAAACTGCATGAGGACAGGCTCTTGTCAGTTCGCTGCTGTGTACCCAGCACACATTATACGCCTAGTAAATAAATACCTGTTGAACCAACAGATGAACATGTTGAACCAACAAATGAACCTCCTCAGGACTTCTGATGGGATTGGGCCCATTTTCCTTTCACTGCGTCCCTCATGCTGTCTCCTGGTTGCGGTGCAAGGAGGCTGCCACGGTGCTGGGATCCTTTTTCTCCGCAGAGCTGTCTGGAGCAACACCTGCGGCGATGGGAAGCCATGACCCTGGTTTCTCCCAGATACTATTACCTCTGTAATTTGTGCCTTTATGTTTTCTATGTTGTTACTTTTGTTTTTTTTTTTTTTTTCCTACCTTCACCAGGGCCACGAGGTAAAAGTTCTTGTCTGACATGCTCATTCTTTCTTTTTGCGTGTATCCAGTGATGTGGGAGGCTCTGGGGAGGTGATGGATGCACAAGACAGATAAGGCCTCTGCTCTCACAGAGCTTACCTTCCGACGAGGACAGACAAACCAACACACAAGATCATTGCAGATAGTGCTAAGTGCTGTGTAGGAAATGGAACAGTCTGACTCCATGGAAGCGTACTTTAGATTGGAAGGCCGGGTCTCCACTATATCGCTAGCACCGGACTCACAGTAGATGCTCAGTTGGTATTTATGAATGAATGAATGGCCAGAGGCTCTCCAGTTTATATGTCCTATTGGGAAGTAGTGTAGGGTAACTTACCCAAAGTTACCCAGTTGGCAAATGGTACATTTGAACCCAGACTTCAGAGTTCACGCTCTTAACCGTTTTGCTGTCTGATCGCTGGGAAATACTCCAGAACGGTGGCTGTCACTTTGCCTTCCAAGTTAACAATGTGAAATAACTCTGAATTTACAGAGAACCAAAGGCTTTCCAATTAAAATGAAAAAACCGAAAAACCCCACCAAACCTACCGTGGATTGTAATTCCAGGATAGTACTTGAGCTTTCATGATGTTCTCATGGCCTTCTGGGGATGCCAGATTGGGAAAGAAGTCCAGGTAGCTAAAGTGAAAATAGTGAGCCTTAGTTTCCACTTGAGTTGTCTGAAGTTCTTTCTCTATCTGGGAGGCCTGGCTTGGCTTCTCCTGATAATTGGTGGGTTCATTCGGTTAGTCCACAAACATTTACTGAGTACCTGATCTGTGTGTCAGATACCCAGAGAAGCCAAGTTATATCAGCTGTACTCTCCTATTTTCCCTCAACCTCCTCCCAGTACTTTAGGGAAGGGGGCAGATGAGAATAACAGCCAGGACAGGACAATGATGTAGGGTAG
GCAAGCAAGCCAAAATATCTGTCAAGAACAAGGGCAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGCGGCTGAAGCAGGAGGATCACTTGAGCCCAGGAGTTTGAAACCAGCCTGGGCAACATAGTGAGATTTTACAGAAAATAAAAAAATTAGCTGGGCGTGGTGGTGCATGCTTTTAGTCCCAGCTACACCGGAGTCTGAGGTGGGAGGATTGTTTCAGCCTGGGAGATACAGGTTGCAGTGAGCCACGATCATGCCACTGCACTCCAGCATGGGCAACAGAGCAAGACCTCATCTCCAAATAAATAAATAAATAAAATAAAAACAACAAAAGGCAAAAATGAATCCATTTGCAGATGAGCAGAAACTGAGAGGATTTGCACCAACGAAGCTACAAAAAAATAAAATTTAAAGGATTTACCTCAGGCAAAAGGAGAGTGATCCTGTTGGTGAAAGCTGAGATGCAAGAAGAAAAGGTGGATAAAAATGGTAATTGTGTGGCTGAATCTAAACTAATGTTGACTGAATAAAACAATTTAGTAATGTCTCTTGGGGTTACAGTGGCAAAGGTTAAACTTAACATACACTACATTAAGGTGTATAATTTAGAGGATGGGTGATTAAAGTACTCCAAAGTCTTTATATTTTAAGGAAACAGGGTAAAGACATTTTTACAAATATTTAAAGATATTGGACTTTCACAAGGTAAGTATGCATGCCCAAAAGTTTGAAGTAACCACTAAAACTTAGAAATAGAGTATACAGGTGAAGAAAATCAGAATGAGAATAAAAATAAACCCTAAAGAAGAAAGGAAAGGGGAAAAAAACCAGGCAGGACAAATAGAAATAACAAAATACAATGGTAGAAATAATTCCAGATATATCAGTAAATATAATAAATGTAAATGGACTAAATGCTCCAGTTAAAATACAAAGACTATTCTTTTAAAAAACCTTTTTATCATGAAAAATTTCAAGTATACAGCAAAGTGGGAGAAACAGTACAAGAAAACCATATACCTGCGATGTAGAGTCAGCCATTGCTAGCAATTTGCCACATTTGTCTCACCTATATGGGTATGTATAGGAGACTATTAAGAACACCTATTTAACTTCCATAGTAAACATAATATAATGAAATACAATTTAAACGGTAATCATGATGTAGAGTATCCACTTTTGAGGTCAAGCAGATCTGGATTCTCCAGCAATTTTTAATTATTTAACTTACGTGTGTGGTTATTTATTCAAAAGATGTCTCTTCACTAGGCTATAGTAAAAGGATTGGAATCAGGTTCGCTTTTCTGATCATTGTATTTCTAAATATTTGTTGCATAAACAAATAGAATTTACTAGTAAAGAATTCAGCACAGTGCCAGTTGCATAGTAAACATTTAACGTAGAGTAGCTTGTATTTATTGTAGTTGCTGTTGTTATTGGAAGCATTCAGTAGAGTGATACAAAATAAATAAGCAATAATTGGTAGTTTATTATATTTATAATTATTATTTACAAGACGTCACAGTGCCTAGCCCATATCACTCACCCATAAACATTATACTTATACTAAGTACTTTCACTATTATTCAAAGTCTCTAACAGTGCCTGGCACTACATAAGCAAGAGAAAAGTGGAAGTTTATTCTAATTGTTATTATTGAATAAAGCACTTAACACGAAGCTGGCCCCCAGCGGGCCCTTAATAGTTTCCGCGGTGGCTGTCGTAGCTGGACTACAGACCCCGCCTCCTGAGCGGCCCGAAGCCCCGCCCCTTACTGCCCCGCAGTCCCGCCCCCGTGGCTTGTGCCGCGCCTGCGCACTGTCCCGGAAGGGGCTCTACGCGCGCAGCTTTAGTCCCCGCCCCTGGAGCCGGCGGCGCAGGGCGCAGCTTCCCGCCGCCAGAGCGGGCCAGCCTGCTGCGTGCGTGCGTGTGTACGACTCTGCGTGCGTGCGTGCGTGCGTGCGTGCCGTCAGCTCGCCGGGCACCGCGGCCTCGCCCTCGCCCTCCGCCCCTGCGCCTGCACCGCGTAGACCGACCCCCCCCCCAGCGCGCCCACCCGGTAGAGGACCCCCGCCCGTGCCCCGACCGGTCCCCGCCTTTTTGTAAAACTTAAAGCGGGCGCAGCATTAACGCTTCCCGCCCCGGTGACCTCTCAGGGGTCTCCCCGCCAAAGGTGCTCCGCCGCTAAGGAACATGGCGAAGGTGGAGCAGGTCCTGAGCCTCGAGCCGCAGCACGAGCTCAAATTCCGAGGTAAGCCCCAGAGGCCGCCACCTTCCTGCCCGCGGCCTCCGCCCCAGTGCTGGAAGGACGGAGCCCGGCGCGGCGGGTGACGTCGGCCCTCGTCCCCACCCCGACGGCGCTGTCGCGGGGGGCGGCGAGGCCGGGCCGGGCCTTGGCGCTCGCCGCGCTCCCCAGAACTGCCCGGAGTGGCCGGGACCCGAGAGGGCTGGTGCGGGAGCCGGGGCCTGCGCCTCCTCCCCGACCCCCAGCCTCCTGGGACTTGCCTTCGAGGCACTTGTCACTTTGTAACTTACCAGTTTGTGATCCTCTCTAGTGTGAGCCTCCGCCGCTGCCTTTGCCTAGAAGTTTCTTCCCCTGCTCCGTGACAGTGTTGACCTCAGGGCTTAGTTGAGGTGTCAGCTGCTCAGAGAGGCCTGCTGTGACCACCCAGCCACCGTGCACACCTGCTGTCATTCCCTATTCCGTCACTGTTTCGTGGTCAGCACGGCACTTTTCATACCCAAAATCACTGTTTCAATACTAGAAGGGAAACTGCATGAGGACAGGCTCTTGTCAGTTCGCTGCTGTGTACCCAGCACACATTATACGCCTAGTAAATAAATACCTGTTGAACCAACAGATGAACATGTTGAACCAACAAATGAACCTCCTCAGGACTTCTGATGGGATTGGGCCCATTTTCCTTTCACTGCGTCCCTCATGCTGTCTCCTGGTTGCGGTGCAAGGAGGCTGCCACGGTGCTGGGATCCTTTTTCTCCGCAGAGCTGTCTGGAGCAACACCTGCGGCGATGGGAAGCCATGACCCTGGTTTCTCCCAGATACTATTACCTCTGTAATTTGTGCCTTTATGTTTTCTATGTTGTTACTTTTGTTTTTTTTTTTTTTTTCCTACCTTCACCAGGGCCACGAGGTAAAAGTTCTTGTCTGACATGCTCATTCTTTCTTTTTGCGTGTATCCAGTGATGTGGGAGGCTCTGGGGAGGTGATGGATGCACAAGACAGATAAGGCCTCTGCTCTCACAGAGCTTACCTTCCGACGAGGACAGACAAACCAACACACAAGATCATTGCAGATAGTGCTAAGTGCTGTGTAGGAAATGGAACAGTCTGACTCCATGGAAGCGTACTTTAGATTGGAAGGCCGGGTCTCCACTATATCGCTAGCACCGGACTCACAGTAGATGCTCAGTTGGTATTTATGAATGAATGAATGGCCAGAGGCTCTCCAGTTTATATGTCCTATTGGGAAGTAGTGTAGGGTAACTTACCCAAAGTTACCCAGTTGGCAAATGGTACATTTGAACCCAGACTTCAGAGTTCACGCTCTTAACCGTTTTGCTGTCTGATCGCTGGGAAATACTCCAGAACGGTGGCTGTCACTTTGCCTTCCAAGTTAACAATGTGAAATAACTCTGAATTTACAGAGAACCAAAGGCTTTCCAATTAAAATGAAAAAACCGAAAAACCCCACCAAACCTACCGTGGATTGTAATTCCAGGATAGTACTTGAGCTTTCATGATGTTCTCATGGCCTTCTGGGGATGCCAGATTGGGAAAGAAGTCCAGGTAGCTAAAGTGAAAATAGTGAGCCTTAGTTTCCACTTGAGTTGTCTGAAGTTCTTTCTCTATCTGGGAGGCCTGGCTTGGCTTCTCCTGATAATTGGTGGGTTCATTCGGTTAGTCCACAAACATTTACTGAGTACCTGATCTGTGTGTCAGATACCCAGAGAAGCCAAGTTATATCAGCTGTACTCTCCTATTTTCCCTCAACCTCCTCCCAGTACTTTAGGGAAGGGGGCAGATGAGAATAACAGCCAGGACAGGACAATGATGTAGGGTA
benign
315,018
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 20, position 58676941, gene STX16. What disease(s) is it linked to if pathogenic?
benign
CAGATAAAAGGAAAAGCTTTCTCTGCGGGAGTGAGCAAATCTAGTGGGAACTAAAAATTTTGTTTTAGGTTCTACTTTATAAATCATTTTGAGAGGTTTTACAGTATATTATTTAGTATTGGCTTCCCTGGTGTTCTGGGTTACTTATTAGAAAAGTCAGCGTGCTCCATCTTCCCTCCAGCCACAAGGCTGTAGGCAGCACGCGCGTGCTCGGCAGTCGGCTAGTCTAAGGGTGATTGAGCGTCGGGAGCTGCTCCCCATGACCGGACTCTCGGTGCTGTCCCCGTGCCTGATGTTTCCTCCTGGTGGATGAGGGGCTCCTCCAGGTGGGCGGGCAGGCTCACTTAGGAAACAAGCCCACCGCGGGGGATGGAGCAGGAGAGATTGCCATTCTCGCCAGGGCTGCCTTCCCGCTGTCTCCTCCTCCCTCCTGTGCCATAGCAAGGTCTGGAAGAGGCAGCGCATGCTCTCCCTGGACGTGCCTCCCGGCGCCCTCTGAACTCTGCTGTCCTCTGGCTCTCCTTTCTCAGTGCTCTGCGTCTTTCGCCAGCCAGGTGGGGCCCTTTGGCATTTCTCTAGCAGGCATGATGGAGTTCCCGCTCCTGCCGAGCTTCCAGGATGCGGTGTTAAGGTGAAGAGATGTGCAGGGTGCAGCCTCGTCCCCAGATTGAGCTTGGAGGGCTCCTTTGCTGTATCGTTAGCGGCACTGGGAGGACGCGCCTCAGAGGGATCTTTCTGCATATGACATCCATGGGGCACACGTGTCTGTTTTTATTTCAAAGGATGAGTTTTTGTTTCCAAATTTAGGGGAGGTCGAAATGGGGCCTCTTCCGGGTGTCTGTTGCCTACCTGCCAGGTACGGTCCTCCAGCCCGTTGTTTCCTTCCGCGGTGAAGGAACTGTGCATTCGCTCCAGGAACACGGACCGGGAACAGGCGACCCGTGCTGCAGGGGCACTTGCCACGGCCTGCAGGAGGAAAAGCCGGGAGAAGCAGGCCCAGCTGCACCCGGAAGCATGAGCTTTCACTTCCCTGTCAGGCTTTGTCTTAGTAGTAGGTTTCCAACAAATCCATTTCCACGTCCAGGGTAAATAAGCAGCACCAGGATCATGGGGCTCTTCCACTCCTGGTGATTGAATTCCGTGGGATTGATTGGAGGGATTACAATCATGTAGCCTGTAGCAGAGACCTCAGTCACTGTGCAGAGAGATCTGGAAGCCTCATTCTGGAAACGAGTGGGACTTGATTTGGGATTTTGGGGAAAATGACGGCCTTTTTTCCCTCCTCTTTTTGTAGGCAGAACAGTATCAAAAGAAGAATCGGAAGATGCTTGTGATTTTAATATTATTTGTCATCATCATTGTGCTCATTGTTGTCCTCGTTGGCGTGAAGTCTCGATAAGTGGCATTGGGTTTTCGTGTGTGCCGCGCGTGTGGATCTCCCGGGTGTGAGGGGCTTGGCCTGCGCCCCGCCAGCTGCCCGCAGAGGTGCAGCCTCGAGGAATCTGAGGGCGTCGGGGCAGCGAACCTTTGCATCCACGGACTCCTCCTTCCCTAGTCCTGCTCAAGCGGTCCGGGGAATGGGTTTTTGTTTTTCCTTCATTGTTGAGAATTTAAGGACCTTTGATACTGCTGCACAATAGAGATTGAGTTCTGGGATCAGTTATAATATATATTTTTTTTAGAAAGAGAAAATGAGCTGAGAGTTTACAGGCACTGCAGAAGCTGTTCAGTATTATATGTGTATATGCTATTTTTTTAGCAGCCATGTCTGAGCAGAATGTTAACATAATTTTTGGAAAAATTTTCTTTAAACCATCTGGTTTTTAAGAAATTTGGTACCAAAAATTGATGAGTAGAGGCAAAAATGCCCCTTCATCTTTCTCTATATATTTTCCAGTTGAAAACAAACTAAGAAGTCCTTTAAGAATTTATAATCCGTTCCCCATTAACTTAATTTAGCTTTTCCATCACTGTTAATGATCAGAGTAACAAAGTGTGAAAAATAAGAAACCATCATTGATGTTAATTAACACATTTAGATGGGCCAGTTAAAACAGCTTCATAAGTTTTAAATTAATTGTAAATGGAATATTCCTCATTTAAAATTTTTGCACTGCATTTTCTACTGTAAACCAAAAGAGGTTACTAAGCAAAACCACCTAAATTTAAGTTGGTGATTTAAATGAATCTCACATTAAAAGAAAGCTTGACAGTGTTATGAAAGCCACCAGACTCAGCCAGTGTGTCCCCATGGGTATCCCCAGCCATCCTTGCTCAATCCATTACTTATATACTAACTACATAATGACCTGTTCAAACCAGACTCTATTTAATGAACTGTGAATTTACACAGAGGCCATTTTAAATGGGTCACCCCATTTAGGATTAGTGGATCTCAAATTATTAACCAAACATCACTCCATTTCAAAGTAAAATATTCCACCAGCGATTTGATTTATTGGCTCTTCCATTGCCACTGAGCAATGCCCAGGAAGCAGGCACATTGCCAAGGACTGGGGGCATCTTGACTAGGAAGCTCCTCGTTTGTGTGAGCGTGGGTCAGACCGCCAAAGTAGGACTTCATCGTTTACCTACCTATTATCAATATGGTGCTTGAATATATTCCTATAACTGTAGAACAGTGTGGAAAGTGATGGTAACTTTGAAGTTGTTCATGTTTTATTGGCTTTGTTTTAATTGACACTAGTAGAGTTTTAATGGTCTTTGTGTAAATTTTAATGGCTTTTCCATTGTTTTTGCTTCTCTTAAAAAGTTTAAGAAGAATATGACCTCATTAAATGTGCTGTTTTATTTGGACCAGTCACACAAAATGTCTCTCTAGAGTTGACTTTAAAGTTGTTTACAGAAATTTAAACTCAATTCCAGAGATTGAAGTTGTCCAAACAGCTCATGGGCTTAGTGTCCAAACCCCTGCCCAGCCTTCCCTTTCCAAGTTGGTGCCACCTCCAGGTAGCCATTGGTGGTTTTCCTATTACTGATGTGGCTGTGGAATGATAAGGTCCTAGAGGGGCCCTGGCATTTCAGGAAGCGGACCTGGTATTCCCTGACAAACATTGCTTAGGAAAGAGGGCCGGAGAATAAGAAGCCAGCACCTCATCAGTCAGCCCTGCAATGTGAGACTTCCGTAGCTGTTGAGAGTCACTGCAGGTGTTCTTTCATCCCATCTGATTTTAACCCATGGTTGAGACGTTCCAAGTTAGATCTGCTGCTCTTAGGTGTGGGGCTGTCCACATTAGGGAACTTGCCTCAAAAACAGTCCACAGTGGCAATACCGGACTTCTGTTCAAGCTTTTTAAAGTGCTGAGCCTTACAAACCCCTGAAGGAAAGTGACCCTTTAAGAGAGGATCATCTTTTTTTATATTTATTTTCACCAAATAGGGTGATGAGGGTTGGTTTTTGTTCCCTCAACCCATTTGGGTAAAATAACGGATCTGATTAGAAACTGTTTTAAGGAGGGGCTGGGCTCGGTGGCTCACGCCTGTAATCCCAGACTTTGAGAGGCCAAGGCGGTCACGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCGTCTCTACAAAAAATACAAAAATTAGCCGGGTGGGACACGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAATTGTTTTAGCGCTGGGTTTCCCAAGGTGGGAGAGACAGACCCAGCCTGGAGCTGGCCCCTGGCCTGTGTGCTGACTTCTTGGGGTCCTCAAACCACTGTATTTTTCTGTTGAGCCTGTACTTGGGGAGAGATCAGTAGCATTTGAGGAAGTAAGAGAAAAGAATCATGGTACCTCAGGGTTTCTTTCCCTTTACTCGCTGGCAGCCATTGTCTGTGGGCACCTCATGTTTTTCCACACTCTACTGGGCCGTGGAGGTAACGATCACCCAGGCCAGTCTCCTCTGCCTGGGATGCGCCCTCTGAGAGGAGGCCTAGCAGGGCAGGCTCCCTC
CAGATAAAAGGAAAAGCTTTCTCTGCGGGAGTGAGCAAATCTAGTGGGAACTAAAAATTTTGTTTTAGGTTCTACTTTATAAATCATTTTGAGAGGTTTTACAGTATATTATTTAGTATTGGCTTCCCTGGTGTTCTGGGTTACTTATTAGAAAAGTCAGCGTGCTCCATCTTCCCTCCAGCCACAAGGCTGTAGGCAGCACGCGCGTGCTCGGCAGTCGGCTAGTCTAAGGGTGATTGAGCGTCGGGAGCTGCTCCCCATGACCGGACTCTCGGTGCTGTCCCCGTGCCTGATGTTTCCTCCTGGTGGATGAGGGGCTCCTCCAGGTGGGCGGGCAGGCTCACTTAGGAAACAAGCCCACCGCGGGGGATGGAGCAGGAGAGATTGCCATTCTCGCCAGGGCTGCCTTCCCGCTGTCTCCTCCTCCCTCCTGTGCCATAGCAAGGTCTGGAAGAGGCAGCGCATGCTCTCCCTGGACGTGCCTCCCGGCGCCCTCTGAACTCTGCTGTCCTCTGGCTCTCCTTTCTCAGTGCTCTGCGTCTTTCGCCAGCCAGGTGGGGCCCTTTGGCATTTCTCTAGCAGGCATGATGGAGTTCCCGCTCCTGCCGAGCTTCCAGGATGCGGTGTTAAGGTGAAGAGATGTGCAGGGTGCAGCCTCGTCCCCAGATTGAGCTTGGAGGGCTCCTTTGCTGTATCGTTAGCGGCACTGGGAGGACGCGCCTCAGAGGGATCTTTCTGCATATGACATCCATGGGGCACACGTGTCTGTTTTTATTTCAAAGGATGAGTTTTTGTTTCCAAATTTAGGGGAGGTCGAAATGGGGCCTCTTCCGGGTGTCTGTTGCCTACCTGCCAGGTACGGTCCTCCAGCCCGTTGTTTCCTTCCGCGGTGAAGGAACTGTGCATTCGCTCCAGGAACACGGACCGGGAACAGGCGACCCGTGCTGCAGGGGCACTTGCCACGGCCTGCAGGAGGAAAAGCCGGGAGAAGCAGGCCCAGCTGCACCCGGAAGCATGAGCTTTCACTTCCCTGTCAGGCTTTGTCTTAGTAGTAGGTTTCCAACAAATCCATTTCCACGTCCAGGGTAAATAAGCAGCACCAGGATCATGGGGCTCTTCCACTCCTGGTGATTGAATTCCGTGGGATTGATTGGAGGGATTACAATCATGTAGCCTGTAGCAGAGACCTCAGTCACTGTGCAGAGAGATCTGGAAGCCTCATTCTGGAAACGAGTGGGACTTGATTTGGGATTTTGGGGAAAATGACGGCCTTTTTTCCCTCCTCTTTTTGTAGGCAGAACAGTATCAAAAGAAGAATCGGAAGATGCTTGTGATTTTAATATTATTTGTCATCATCATTGTGCTCATTGTTGTCCTCGTTGGCGTGAAGTCTCGATAAGTGGCATTGGGTTTTCGTGTGTGCCGCGCGTGTGGATCTCCCGGGTGTGAGGGGCTTGGCCTGCGCCCCGCCAGCTGCCCGCAGAGGTGCAGCCTCGAGGAATCTGAGGGCGTCGGGGCAGCGAACCTTTGCATCCACGGACTCCTCCTTCCCTAGTCCTGCTCAAGCGGTCCGGGGAATGGGTTTTTGTTTTTCCTTCATTGTTGAGAATTTAAGGACCTTTGATACTGCTGCACAATAGAGATTGAGTTCTGGGATCAGTTATAATATATATTTTTTTTAGAAAGAGAAAATGAGCTGAGAGTTTACAGGCACTGCAGAAGCTGTTCAGTATTATATGTGTATATGCTATTTTTTTAGCAGCCATGTCTGAGCAGAATGTTAACATAATTTTTGGAAAAATTTTCTTTAAACCATCTGGTTTTTAAGAAATTTGGTACCAAAAATTGATGAGTAGAGGCAAAAATGCCCCTTCATCTTTCTCTATATATTTTCCAGTTGAAAACAAACTAAGAAGTCCTTTAAGAATTTATAATCCGTTCCCCATTAACTTAATTTAGCTTTTCCATCACTGTTAATGATCAGAGTAACAAAGTGTGAAAAATAAGAAACCATCATTGATGTTAATTAACACATTTAGATGGGCCAGTTAATAAAACAGCTTCATAAGTTTTAAATTAATTGTAAATGGAATATTCCTCATTTAAAATTTTTGCACTGCATTTTCTACTGTAAACCAAAAGAGGTTACTAAGCAAAACCACCTAAATTTAAGTTGGTGATTTAAATGAATCTCACATTAAAAGAAAGCTTGACAGTGTTATGAAAGCCACCAGACTCAGCCAGTGTGTCCCCATGGGTATCCCCAGCCATCCTTGCTCAATCCATTACTTATATACTAACTACATAATGACCTGTTCAAACCAGACTCTATTTAATGAACTGTGAATTTACACAGAGGCCATTTTAAATGGGTCACCCCATTTAGGATTAGTGGATCTCAAATTATTAACCAAACATCACTCCATTTCAAAGTAAAATATTCCACCAGCGATTTGATTTATTGGCTCTTCCATTGCCACTGAGCAATGCCCAGGAAGCAGGCACATTGCCAAGGACTGGGGGCATCTTGACTAGGAAGCTCCTCGTTTGTGTGAGCGTGGGTCAGACCGCCAAAGTAGGACTTCATCGTTTACCTACCTATTATCAATATGGTGCTTGAATATATTCCTATAACTGTAGAACAGTGTGGAAAGTGATGGTAACTTTGAAGTTGTTCATGTTTTATTGGCTTTGTTTTAATTGACACTAGTAGAGTTTTAATGGTCTTTGTGTAAATTTTAATGGCTTTTCCATTGTTTTTGCTTCTCTTAAAAAGTTTAAGAAGAATATGACCTCATTAAATGTGCTGTTTTATTTGGACCAGTCACACAAAATGTCTCTCTAGAGTTGACTTTAAAGTTGTTTACAGAAATTTAAACTCAATTCCAGAGATTGAAGTTGTCCAAACAGCTCATGGGCTTAGTGTCCAAACCCCTGCCCAGCCTTCCCTTTCCAAGTTGGTGCCACCTCCAGGTAGCCATTGGTGGTTTTCCTATTACTGATGTGGCTGTGGAATGATAAGGTCCTAGAGGGGCCCTGGCATTTCAGGAAGCGGACCTGGTATTCCCTGACAAACATTGCTTAGGAAAGAGGGCCGGAGAATAAGAAGCCAGCACCTCATCAGTCAGCCCTGCAATGTGAGACTTCCGTAGCTGTTGAGAGTCACTGCAGGTGTTCTTTCATCCCATCTGATTTTAACCCATGGTTGAGACGTTCCAAGTTAGATCTGCTGCTCTTAGGTGTGGGGCTGTCCACATTAGGGAACTTGCCTCAAAAACAGTCCACAGTGGCAATACCGGACTTCTGTTCAAGCTTTTTAAAGTGCTGAGCCTTACAAACCCCTGAAGGAAAGTGACCCTTTAAGAGAGGATCATCTTTTTTTATATTTATTTTCACCAAATAGGGTGATGAGGGTTGGTTTTTGTTCCCTCAACCCATTTGGGTAAAATAACGGATCTGATTAGAAACTGTTTTAAGGAGGGGCTGGGCTCGGTGGCTCACGCCTGTAATCCCAGACTTTGAGAGGCCAAGGCGGTCACGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCGTCTCTACAAAAAATACAAAAATTAGCCGGGTGGGACACGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAATTGTTTTAGCGCTGGGTTTCCCAAGGTGGGAGAGACAGACCCAGCCTGGAGCTGGCCCCTGGCCTGTGTGCTGACTTCTTGGGGTCCTCAAACCACTGTATTTTTCTGTTGAGCCTGTACTTGGGGAGAGATCAGTAGCATTTGAGGAAGTAAGAGAAAAGAATCATGGTACCTCAGGGTTTCTTTCCCTTTACTCGCTGGCAGCCATTGTCTGTGGGCACCTCATGTTTTTCCACACTCTACTGGGCCGTGGAGGTAACGATCACCCAGGCCAGTCTCCTCTGCCTGGGATGCGCCCTCTGAGAGGAGGCCTAGCAGGGCAGGCTCC
benign
315,076
A genetic alteration at chromosome 20, position 58854492, in gene GNAS (GNAS complex locus)—benign or pathogenic? If pathogenic, which disease(s) is involved?
benign
CCTGCGCCCCTTCCCAGGCACCAAAAGCCTTGCGCTCCGGACTAGGGGCTTGAGATCCGGGGCTGCCTGGAGGCTGGGGGCTATGACTCAGAGTTTCAGGGGTATCCTGGGGTGATGAAATCCTTCTTCAGTCCCCCCTCCCCCGAGGAGTCGGTTGGGTTGGGGAGGGAGGGTTTCAGCTCCTGTACTCCAGCGTTCCGAGGCCCACGTCTTGCGTCACGTGTCCCGCAACGCAGGAGCGCTTTCTCTGGCCAGCGGAGAAGCGAGGAGAAAGACTCCAAATCAGTCAGGGAGAGGAGTGGAAGGAGCCAAAACGTCCCTGCGAGGCCTGCGCTCACCAGCCCCCTTACCCAAAGTCCCGGGCCCCTGGCGCCAGGAGCAGGCTCCTGGAGCCGGAGCCAGCTCGGCACTGGAACCGGCGTCCTCTGGTGGCAGAGAGAGAGCGCTACTGGCGATTTTCGGACCGAATCGGCACGCTCGTCAGATCCAAGCAGGCGGGACTGGCCTGGAGCAAAAAGAAAGAGAGAGGAGGGCGTAAGGATAGACCAAGGAAGAGGGGCTGGGGGGCAGCCTGGGGGCATGAAAAGTGGCCAGGAAGGAGCCAAGACTCCACCAGCAACAATTGAGTTGCTTCAGCCTCAGTCTAGGGTTCCTTCCAGGCCTTGAACCCCCCAACCTCACAAGGGTTGGAAAGTGAGGCCGGTGAACTTTCCAGCTGGTACTTTGATTTTAAAATAATAATAATAATTTTTTCACCCTAGTTCGGTTGGGTGCTCCATCTTACGGAGCCCCAAACTTATTTTGAGAGGCCGCCACCGTGTTATGGGCGTGCGCAACTGCCTCTACGGCAATAATATGTCAGGACAACGCGATATCCCCCCTGAAATCGGGGAACAGCCCGAGCAACCACCTTTGGAGGCCCCAGGGGCAGCTGCCCCCGGTGCTGGGCCTAGCCCAGCCGAAGAGATGGAGACCGAACCGCCTCACAACGAGCCCATCCCCGTCGAGAATGATGGCGAGGCCTGTGGACCCCCAGAGGTCTCCAGACCCAACTTTCAGGTCCTCAACCCGGCATTCAGGGAAGCTGGAGCCCATGGAAGCTACAGCCCACCTCCTGAGGAAGCAATGCCCTTCGAGGCTGAACAGCCCAGCTTGGGAGGCTTCTGGCCTACACTGGAGCAGCCTGGATTCCCCAGTGGGGTCCATGCAGGCCTTGAGGCCTTCGGCCCAGCACTCATGGAGCCCGGAGCCTTCAGTGGTGCCAGACCAGGCCTGGGAGGATACAGCCCTCCACCAGAAGAAGCTATGCCCTTTGAGTTTGACCAGCCTGCCCAGAGAGGCTGCAGTCAACTTCTCTTACAGGTCCCAGACCTTGCTCCAGGAGGCCCAGGTGCTGCAGGGGTCCCCGGAGCTCCTCCCGAGGAGCCCCAAGCCCTCAGGCCTGCAAAGGCTGGCTCCAGAGGAGGCTACAGCCCTCCCCCTGAGGAGACTATGCCATTTGAGCTTGATGGAGAAGGATTTGGGGACGACAGCCCACCCCCGGGGCTTTCCCGAGTTATCGCACAAGTCGACGGCAGCAGCCAGTTCGCGGCAGTCGCGGCCTCGAGTGCGGTCCGCCTCACTCCCGCCGCGAACGCGCCTCCCCTCTGGGTCCCAGGCGCCATCGGCAGCCCATCCCAAGAGGCTGTCAGACCTCCTTCTAACTTCACGGGCAGCAGCCCCTGGATGGAGATCTCCGGACCCCCGTTCGAGATTGGCAGCGCCCCCGCTGGGGTCGACGACACTCCCGTCAACATGGACAGCCCCCCAATCGCGCTTGACGGCCCGCCCATCAAGGTCTCCGGAGCCCCAGATAAGAGAGAGCGAGCAGAGAGACCCCCAGTTGAGGAGGAAGCAGCAGAGATGGAAGGAGCCGCTGATGCCGCGGAGGGAGGAAAAGTACCCTCTCCGGGGTACGGATCCCCTGCCGCCGGGGCAGCCTCAGCGGATACCGCTGCCAGGGCAGCCCCTGCAGCCCCAGCCGATCCTGACTCCGGGGCAACCCCAGAAGATCCCGACTCCGGGACAGCACCAGCCGATCCTGACTCCGGGGCATTCGCAGCCGATCCCGACTCCGGGGCAGCCCCTGCCGCCCCAGCCGATCCCGACTCCGGGGCGGCCCCTGACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCCTGACGCCCCAGCCGATCCAGATGCCGGGGCGGCCCCTGAGGCTCCCGCCGCCCCTGCGGCTGCTGAGACCCGGGCAGCCCATGTCGCCCCAGCTGCGCCAGACGCAGGGGCTCCCACTGCCCCAGCCGCTTCTGCCACCCGGGCAGCCCAAGTCCGCCGGGCGGCCTCTGCAGCCCCTGCCTCCGGGGCCAGACGCAAGATCCATCTCAGACCCCCCAGCCCCGAGATCCAGGCTGCCGATCCGCCTACTCCGCGGCCTACTCGCGCGTCTGCCTGGCGGGGCAAGTCCGAGAGCAGCCGCGGCCGCCGCGTGTACTACGATGAAGGGGTGGCCAGCAGCGACGATGACTCCAGCGGAGACGAGTCCGACGATGGGACCTCCGGATGCCTCCGCTGGTTTCAGCATCGGCGAAATCGCCGCCGCCGAAAGCCCCAGCGCAACTTACTCCGCAACTTTCTCGTGCAAGCCTTCGGGGGCTGCTTCGGTCGATCTGAGAGTCCCCAGCCCAAAGCCTCGCGCTCTCTCAAGGTCAAGAAGGTACCCCTGGCGGAGAAGCGCAGACAGATGCGCAAAGAAGCCCTGGAGAAGCGGGCCCAGAAGCGCGCAGAGAAGAAACGCAGTAAGCTCATCGACAAACAACTCCAGGACGAAAAGATGGGCTACATGTGTACGCACCGCCTGCTGCTTCTAGGTAATGCGGCGGACTCTGCCTGCGGGCAGCAGGGCCGCCGGGGAACCGGGGAGGGGGTGGCAGGGCTGCCTGGTGGGGCTAGGGGCTCCGCAGTGGGAGGAGGGGGTCCAGCCAAAGGCGGGAAGAACTTGCTAGAAAGTTCCAGGGAGGGACCCTAACTGCCCTGGGAGCGGGAGGGGATCTTTGGTGGATTCGGGTGGCCGAAGTATATGCCCTCCAGGGAGAAAAGTGGTGCCGAGCGACACTGAGGGTCGTTTCCGGCTGGACAGGCCAGCGCCAGCAACCGTAAGCTGGACAGGCAGGGGCTTCAGGTGAGCCAGGAACTGCCGGGGAGGGGCCCCGGGGCCCCGGGACTCCCCTGGCTAGGCTGGTGGGGTCCACGGTGGGCTGGGGTCATTGGGGAAGGCGCGCCCCGCCTCGCCTGGCACGGCTGCTTGGACTCAGACAGCTTGTCGTTGGTGTGTGTTGGTGTCCATATTCTGTGTTCGCCTGTGCATGATACGCTGAAGTGTCCCCTGTTCCTATCCCGGCACCCCCAAATTACCCGCCGACTGTGTACTTGTACTTGGGAACGGGCTGTGTTGTGGTTTGCGCCATGGCCCGGGCAAAAAACTTTCGCTGTTCGCACACTCTGGTGGTACCTGCGCCCGGGCGCTCTGCGGCAAGCGGTGCGGAGGACACGCGGGGAAGGTGGCGGGGCCTCCCGGGAAATAAGCGGGGCCCTTGGCCTGGGGGAGCGGGGAATCGCTTTTCGCCGGCCTCCGCGTAACCTTGTTTCTGTATGTCTTTCTCTCTTTTTCCTTTTGCGCTAAGCGTTTCCTCACTTCTCATTCGTTCGCCAAACCCTCCCGCCTTTACAGTTGAAAAACCAGACACACAGGTATCTGGGGCGCCCGGGGCTGCACACCTCAGTTCGGTATTCTGCACACACACAGCTCGCCTGGTCGGGGGATGGGGGAAAGGGGAAACACAACCTGCTGTAGGCAAGTCCGGATCCCAAACCACTTGGGGGCTGGTTCCAAGGGGGTGGGCGTGGCTGTGTTTAAAAAATATGAAATAATTTTTCTTCCTAGCGAAGAGCCCGAGGTAAGCCAATCATTTTTACAAAGAGTACAGTAGGAGGGGCTTGGTTTAAAAAGATGGGGGTTATGTGTTGTGAGTGGAATGTCACCTTTGTGTTTGAAATGCAACTAAAATAAAAGTTTT
CCTGCGCCCCTTCCCAGGCACCAAAAGCCTTGCGCTCCGGACTAGGGGCTTGAGATCCGGGGCTGCCTGGAGGCTGGGGGCTATGACTCAGAGTTTCAGGGGTATCCTGGGGTGATGAAATCCTTCTTCAGTCCCCCCTCCCCCGAGGAGTCGGTTGGGTTGGGGAGGGAGGGTTTCAGCTCCTGTACTCCAGCGTTCCGAGGCCCACGTCTTGCGTCACGTGTCCCGCAACGCAGGAGCGCTTTCTCTGGCCAGCGGAGAAGCGAGGAGAAAGACTCCAAATCAGTCAGGGAGAGGAGTGGAAGGAGCCAAAACGTCCCTGCGAGGCCTGCGCTCACCAGCCCCCTTACCCAAAGTCCCGGGCCCCTGGCGCCAGGAGCAGGCTCCTGGAGCCGGAGCCAGCTCGGCACTGGAACCGGCGTCCTCTGGTGGCAGAGAGAGAGCGCTACTGGCGATTTTCGGACCGAATCGGCACGCTCGTCAGATCCAAGCAGGCGGGACTGGCCTGGAGCAAAAAGAAAGAGAGAGGAGGGCGTAAGGATAGACCAAGGAAGAGGGGCTGGGGGGCAGCCTGGGGGCATGAAAAGTGGCCAGGAAGGAGCCAAGACTCCACCAGCAACAATTGAGTTGCTTCAGCCTCAGTCTAGGGTTCCTTCCAGGCCTTGAACCCCCCAACCTCACAAGGGTTGGAAAGTGAGGCCGGTGAACTTTCCAGCTGGTACTTTGATTTTAAAATAATAATAATAATTTTTTCACCCTAGTTCGGTTGGGTGCTCCATCTTACGGAGCCCCAAACTTATTTTGAGAGGCCGCCACCGTGTTATGGGCGTGCGCAACTGCCTCTACGGCAATAATATGTCAGGACAACGCGATATCCCCCCTGAAATCGGGGAACAGCCCGAGCAACCACCTTTGGAGGCCCCAGGGGCAGCTGCCCCCGGTGCTGGGCCTAGCCCAGCCGAAGAGATGGAGACCGAACCGCCTCACAACGAGCCCATCCCCGTCGAGAATGATGGCGAGGCCTGTGGACCCCCAGAGGTCTCCAGACCCAACTTTCAGGTCCTCAACCCGGCATTCAGGGAAGCTGGAGCCCATGGAAGCTACAGCCCACCTCCTGAGGAAGCAATGCCCTTCGAGGCTGAACAGCCCAGCTTGGGAGGCTTCTGGCCTACACTGGAGCAGCCTGGATTCCCCAGTGGGGTCCATGCAGGCCTTGAGGCCTTCGGCCCAGCACTCATGGAGCCCGGAGCCTTCAGTGGTGCCAGACCAGGCCTGGGAGGATACAGCCCTCCACCAGAAGAAGCTATGCCCTTTGAGTTTGACCAGCCTGCCCAGAGAGGCTGCAGTCAACTTCTCTTACAGGTCCCAGACCTTGCTCCAGGAGGCCCAGGTGCTGCAGGGGTCCCCGGAGCTCCTCCCGAGGAGCCCCAAGCCCTCAGGCCTGCAAAGGCTGGCTCCAGAGGAGGCTACAGCCCTCCCCCTGAGGAGACTATGCCATTTGAGCTTGATGGAGAAGGATTTGGGGACGACAGCCCACCCCCGGGGCTTTCCCGAGTTATCGCACAAGTCGACGGCAGCAGCCAGTTCGCGGCAGTCGCGGCCTCGAGTGCGGTCCGCCTCACTCCCGCCGCGAACGCGCCTCCCCTCTGGGTCCCAGGCGCCATCGGCAGCCCATCCCAAGAGGCTGTCAGACCTCCTTCTAACTTCACGGGCAGCAGCCCCTGGATGGAGATCTCCGGACCCCCGTTCGAGATTGGCAGCGCCCCCGCTGGGGTCGACGACACTCCCGTCAACATGGACAGCCCCCCAATCGCGCTTGACGGCCCGCCCATCAAGGTCTCCGGAGCCCCAGATAAGAGAGAGCGAGCAGAGAGACCCCCAGTTGAGGAGGAAGCAGCAGAGATGGAAGGAGCCGCTGATGCCGCGGAGGGAGGAAAAGTACCCTCTCCGGGGTACGGATCCCCTGCCGCCGGGGCAGCCTCAGCGGATACCGCTGCCAGGGCAGCCCCTGCAGCCCCAGCCGATCCTGACTCCGGGGCAACCCCAGAAGATCCTGACTCCGGGGCATTCGCAGCCGATCCCGACTCCGGGGCAGCCCCTGCCGCCCCAGCCGATCCCGACTCCGGGGCGGCCCCTGACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCCTGACGCCCCAGCCGATCCAGATGCCGGGGCGGCCCCTGAGGCTCCCGCCGCCCCTGCGGCTGCTGAGACCCGGGCAGCCCATGTCGCCCCAGCTGCGCCAGACGCAGGGGCTCCCACTGCCCCAGCCGCTTCTGCCACCCGGGCAGCCCAAGTCCGCCGGGCGGCCTCTGCAGCCCCTGCCTCCGGGGCCAGACGCAAGATCCATCTCAGACCCCCCAGCCCCGAGATCCAGGCTGCCGATCCGCCTACTCCGCGGCCTACTCGCGCGTCTGCCTGGCGGGGCAAGTCCGAGAGCAGCCGCGGCCGCCGCGTGTACTACGATGAAGGGGTGGCCAGCAGCGACGATGACTCCAGCGGAGACGAGTCCGACGATGGGACCTCCGGATGCCTCCGCTGGTTTCAGCATCGGCGAAATCGCCGCCGCCGAAAGCCCCAGCGCAACTTACTCCGCAACTTTCTCGTGCAAGCCTTCGGGGGCTGCTTCGGTCGATCTGAGAGTCCCCAGCCCAAAGCCTCGCGCTCTCTCAAGGTCAAGAAGGTACCCCTGGCGGAGAAGCGCAGACAGATGCGCAAAGAAGCCCTGGAGAAGCGGGCCCAGAAGCGCGCAGAGAAGAAACGCAGTAAGCTCATCGACAAACAACTCCAGGACGAAAAGATGGGCTACATGTGTACGCACCGCCTGCTGCTTCTAGGTAATGCGGCGGACTCTGCCTGCGGGCAGCAGGGCCGCCGGGGAACCGGGGAGGGGGTGGCAGGGCTGCCTGGTGGGGCTAGGGGCTCCGCAGTGGGAGGAGGGGGTCCAGCCAAAGGCGGGAAGAACTTGCTAGAAAGTTCCAGGGAGGGACCCTAACTGCCCTGGGAGCGGGAGGGGATCTTTGGTGGATTCGGGTGGCCGAAGTATATGCCCTCCAGGGAGAAAAGTGGTGCCGAGCGACACTGAGGGTCGTTTCCGGCTGGACAGGCCAGCGCCAGCAACCGTAAGCTGGACAGGCAGGGGCTTCAGGTGAGCCAGGAACTGCCGGGGAGGGGCCCCGGGGCCCCGGGACTCCCCTGGCTAGGCTGGTGGGGTCCACGGTGGGCTGGGGTCATTGGGGAAGGCGCGCCCCGCCTCGCCTGGCACGGCTGCTTGGACTCAGACAGCTTGTCGTTGGTGTGTGTTGGTGTCCATATTCTGTGTTCGCCTGTGCATGATACGCTGAAGTGTCCCCTGTTCCTATCCCGGCACCCCCAAATTACCCGCCGACTGTGTACTTGTACTTGGGAACGGGCTGTGTTGTGGTTTGCGCCATGGCCCGGGCAAAAAACTTTCGCTGTTCGCACACTCTGGTGGTACCTGCGCCCGGGCGCTCTGCGGCAAGCGGTGCGGAGGACACGCGGGGAAGGTGGCGGGGCCTCCCGGGAAATAAGCGGGGCCCTTGGCCTGGGGGAGCGGGGAATCGCTTTTCGCCGGCCTCCGCGTAACCTTGTTTCTGTATGTCTTTCTCTCTTTTTCCTTTTGCGCTAAGCGTTTCCTCACTTCTCATTCGTTCGCCAAACCCTCCCGCCTTTACAGTTGAAAAACCAGACACACAGGTATCTGGGGCGCCCGGGGCTGCACACCTCAGTTCGGTATTCTGCACACACACAGCTCGCCTGGTCGGGGGATGGGGGAAAGGGGAAACACAACCTGCTGTAGGCAAGTCCGGATCCCAAACCACTTGGGGGCTGGTTCCAAGGGGGTGGGCGTGGCTGTGTTTAAAAAATATGAAATAATTTTTCTTCCTAGCGAAGAGCCCGAGGTAAGCCAATCATTTTTACAAAGAGTACAGTAGGAGGGGCTTGGTTTAAAAAGATGGGGGTTATGTGTTGTGAGTGGAATGTCACCTTTGTGTTTGAAATGCAACTAAAATAAAAGTTTTNNNNNNNNNNNNNNNNNNNNNNNNNNN
benign
315,101
Gene GNAS (GNAS complex locus) variant at chromosome 20, position 58891706—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
benign
TCCCTTTTTCGTTTGCTCATCCTTTTTGGCGCTAACTCTTAGGCAGCCAGCCCAGCAGCCCGAAGCCCGGGCAGCCGCGCTCCGCGGCCCCGGGGCAGCGCGGCGGGAACCGCAGCCAAGCCCCCCGACACGGGGCGCACGGGGGCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGAGCCGCTCGCGCCGCGGAAGAGCGGGGACCCCGAGAAGCTCGCGAAGAACCCCAAGAACCCGGCGCGGGAGGCGCTCCCCGAAAAGTTCCTAACAGACAAGGAGCGCAAGAAGCTCGAGAAGAAGCTGCTGGAGCAGAGGCGAAAGGAGGAGAAGAAGAAGGAGAAGGAGAGGAAGAAGATGGAGAAGATGCTGAAGAAGAAGAAGAAGAAGGTGCCAGAAGCCCAGGAGGAGGCCCGATGCCCCGAGGCCGCCGCCGCCGCGGCCGCCGCCGACGACGACGAGGGCGCCGAGGAGGGCGCCGTCGGGGGCGCCGAGGAGGGCGCCGCCGCCGGGGGCACGAGTAGGGCCTGGGCTGACTGGGACACGGACTCGAGCGACGAGGACGACGCCTACTACGCGGCGCCGCGCGTTGGGGGCATCGTGTGGCGGCCCGGGCCGCTCAAGGCTGGCGCGCTGAGCGCCCACCTGCCCCTCGTGGTGTTCCTGGTCTTCTCGGTGCGCAGCCCCTCGTGGGTGCTCAACTTCCTGCTGCAGAAGCGCACGGAGCAGGGCCGCGGCTGCGGCTTCGTGTTCGGGGCGACCTGCTGCTTCCGAGTGTTCCTGGGCTGCGCCTTCTTCTCCTACTTGGGCGGCCGCGCCAAGCGCAGAGGCCGCGGGCGCTCCGGGGCCAGAGGCGCCTTCGGCTCGGGCCATGGCGCCCGGCGCCGGGGGCGCGAGGAGCGGCTCATCTAGTCAGACCCCCCACCCCGCCACCGCCACCAGACACCACCATCGCTGTGTAGTGTGGGTTTTTATTCGTGTTCGTGTGTGTGTGTGGACACATTTTCCTTTTCGGTTGCTCTGTCCTTTGGTTCGTGCTCGCCTCGCTTTTTCCACACTCCTGCTCTCTGGCTCTCTGTGTCTCTCGCTCTTTCGAAAATTTTCCTAAGTCCGGGCGCGCGCTCCCTCCCCTTCCGCCCACCCCAGCCCCTCGGCGGCGCCCGCGGGAGGGGGAGGAGGCCTCGGGGGCGCCGGGCGACGCGGTCCGGGGGGTGGAGCGTTGGCGTCGTGCGAGGGGTCGTCACTGGCGCGGAGACGCCCCCTCTCCCCCCTCGGCTCAGCCGGGCTGCTGCCCGAGCCCGGGGGGTGGGGGGCGTCTCCCCGGCCCGTCCCGTCCCCGGCCGGGCGCGGGCGGAGGGACCCCCTCCCCGGGCTCCCGGGGGGCCGCCTCCCTCCGCCGGCTCCCGCCCTCCCAGCCGCCGCCGCCGCCGCGGCCGCTCCTCGGCCCTCCTCCTCCTCCTCCTCCTTCCACCCCCCTCGCCGCCGCCGCCTCCTCCTCCCCCCGCCTCCCCCCGCCCGCCGCGGCGCTTTTGGCTCGGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGCGGCGGCGGCGGCAGCGGCGGCAGCAGCTCCCGCAGCTCCTGCTCTGGTCCGCCTCGGCCCGGCGGCGGCCATCAGCCCCCTCGGCCTCGGCTCGAGGGGCGGGGAGCTGCGCGCGCCCCTCGGTCCGACCGACACCCTCCCCTTCCCGCCCGTCCGCGCGCCCCGCGGCCCGCGGCCCGCAGTCCGCCCCGCGCGCTCCTTGCCGAGGAGCCGAGCCCGCGCCCGGCCCGCCCGCCCGGCGCTGCCCCGGCCCTCCCGGCCCGCGTGAGGCCGCCCGCGCCCGCCGCCGCCGCAGCCCGGCCGCGCCCCGCCGCCGCCGCCGCCGCCATGGGCTGCCTCGGGAACAGTAAGACCGAGGACCAGCGCAACGAGGAGAAGGCGCAGCGTGAGGCCAACAAAAAGATCGAGAAGCAGCTGCAGAAGGACAAGCAGGTCTACCGGGCCACGCACCGCCTGCTGCTGCTGGGTAAGGGCGGGCGGGGGGCGCCGGCCCCGGCCCGGGGGCCCTCGAAGGGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCCCGCCCCGGGCGCGCGCTCCCGAGCCCCCCGCCCGTTCGCGGGCTCTGTCTGTGGGGGGCGAGGCCGGAAGGGGGACCCAGGGGCGCGGATTCGGCCGGGCGGGGGCTCAAAAACGGGGCGGGGGGCCGTGGCGACGCGGGCGCGGGTCCCCCTCCCCCGGCCTGCCCGCTCAGTGTCTCTCTCTTGCTCTCGCTCTCGCTCTCCCCCTCTTTCTCTCTTTCTCTCTTTTTCCGCGAGGCCTACACGACGCCAGGGGTTTGGGTGCGTGTTGGGGAGGGGGAGGGGGAGCCCATGGGGCTCCGGAGACTGCGACAAAAAGAGGGTTTCGGGGACAGGAAACCGGGTGGCGGGTAGAGGGAGGGGGACCCGCCTCCGTGGGGTGTGAGATTTGTTGGGAGAGGGAAAGAGGGGAAGAAAGGGGCGAGGAGAGGAGGGGGTGACGCTGGGGGGCGCCGTGGTGGCGGAGGGGGCCTCGCCAAAGGGAGGCTTTGGCGGGGAGAAGTGGCCGAGGAGAGTGGGGGGGCTGGTGACATCAGCCCCTCGGAAAGGATCGGAGCGGTAAAGGTGGTGCAGTGGGGGGGAGGGGGCGCAAGGGAGTCGTGGCGCCGGAGTCGGGAGGGGGGCGGCGAGGGGAGGAGGGAGGGCGGTTGCCGCTGGGCGCGACTTGGTGCGTTTCGGGCAGGACCGACTGACTGTGTGTGCGCGGAGCAGACGTGTCCCGGGCCAGGCCGGGCCGTGGAAGGAGGAGAAGGAGAGTCAAATAAAATAAGACCACCCCCCAACACCAAAAAATGGATAGAGTTAGTACGAGAAGTGCCCAGTGAAGCCAAATGACACGTCATTTTACAGTGTGACCTTTTTTTCCCCTTCCAGACTTGCAGGCTTTTTCAAAAGCAGAGCGGAGAATTAATTGTAGCAGCTGCCCCCCCCACCCACCACGAGCAGCGCCCCCCCAACACTATTTTAATAAACCATTAAAAAAAACACATTTTCCTGCTGGCTGGCCACATTGAGAGTGCTTTGTGAAAAGAAAAAACAAAGACATTCACAAATCAGATAAAACTGGAGAATGACATTTGTCTGTAAATGGCTTCTTGGTCTGGAAATGGCGTGGTTTCTTTTTTTTTTTTTTTTTTTTTTTGTCCTCCTCAAGGTGGGAGGGGGGATTGAGAGTGCTCTAAGGAGACTTTTCCTCCAGGTGGGAAGAGATAAAAAGACATTAATTAGTTGTTTATCAAGTGACATTTAGTTGTTTGGTTTTGGGTTTTCTTTTTTTGATTGCGATTTTTCCTCTGATTAAAAAAATAATAATAAAATAAAAAAAGGTTAACTATAAGGAGATGGCCTTTCCTCCTTTTTTTTCTTAAGGTGCTGTTTTGGGGGAAAAAAATGTAATGAAATGACCAAAAGAATTACACAGCATTAATTAAAAATGGAAGTTTTCCACTTCCTTGATAATTTGGCTATCTGAATAAATTTGTGAATTTGCTAGGTTAAGACCTAGTTCGTGGTCACATTTCAACAAAACAGCTTGAGTATAAAGAAAATAATAAAAGGCTGTTCTTATTTATTTTCCTTTGGTGGCTTTTGGTTTGCTCTTTTTGCATAGGTCATGACTTTGTTCTCCTGGGTCCAGATTTATAAAAGCAGAAAATTACTAATTAAGTCAAAATAAGTGTCTTTGGTGTTTATGCATTTGCAATTTCAGTAATTAAATGGTACATGTGTTGCTGTCTTGTCTAAAACTTTTAAAGGCAGAATTATGCTGTTGGGATATTAGTATGCGTATAACTTGATTTCAAAGT
TCCCTTTTTCGTTTGCTCATCCTTTTTGGCGCTAACTCTTAGGCAGCCAGCCCAGCAGCCCGAAGCCCGGGCAGCCGCGCTCCGCGGCCCCGGGGCAGCGCGGCGGGAACCGCAGCCAAGCCCCCCGACACGGGGCGCACGGGGGCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGAGCCGCTCGCGCCGCGGAAGAGCGGGGACCCCGAGAAGCTCGCGAAGAACCCCAAGAACCCGGCGCGGGAGGCGCTCCCCGAAAAGTTCCTAACAGACAAGGAGCGCAAGAAGCTCGAGAAGAAGCTGCTGGAGCAGAGGCGAAAGGAGGAGAAGAAGAAGGAGAAGGAGAGGAAGAAGATGGAGAAGATGCTGAAGAAGAAGAAGAAGAAGGTGCCAGAAGCCCAGGAGGAGGCCCGATGCCCCGAGGCCGCCGCCGCCGCGGCCGCCGCCGACGACGACGAGGGCGCCGAGGAGGGCGCCGTCGGGGGCGCCGAGGAGGGCGCCGCCGCCGGGGGCACGAGTAGGGCCTGGGCTGACTGGGACACGGACTCGAGCGACGAGGACGACGCCTACTACGCGGCGCCGCGCGTTGGGGGCATCGTGTGGCGGCCCGGGCCGCTCAAGGCTGGCGCGCTGAGCGCCCACCTGCCCCTCGTGGTGTTCCTGGTCTTCTCGGTGCGCAGCCCCTCGTGGGTGCTCAACTTCCTGCTGCAGAAGCGCACGGAGCAGGGCCGCGGCTGCGGCTTCGTGTTCGGGGCGACCTGCTGCTTCCGAGTGTTCCTGGGCTGCGCCTTCTTCTCCTACTTGGGCGGCCGCGCCAAGCGCAGAGGCCGCGGGCGCTCCGGGGCCAGAGGCGCCTTCGGCTCGGGCCATGGCGCCCGGCGCCGGGGGCGCGAGGAGCGGCTCATCTAGTCAGACCCCCCACCCCGCCACCGCCACCAGACACCACCATCGCTGTGTAGTGTGGGTTTTTATTCGTGTTCGTGTGTGTGTGTGGACACATTTTCCTTTTCGGTTGCTCTGTCCTTTGGTTCGTGCTCGCCTCGCTTTTTCCACACTCCTGCTCTCTGGCTCTCTGTGTCTCTCGCTCTTTCGAAAATTTTCCTAAGTCCGGGCGCGCGCTCCCTCCCCTTCCGCCCACCCCAGCCCCTCGGCGGCGCCCGCGGGAGGGGGAGGAGGCCTCGGGGGCGCCGGGCGACGCGGTCCGGGGGGTGGAGCGTTGGCGTCGTGCGAGGGGTCGTCACTGGCGCGGAGACGCCCCCTCTCCCCCCTCGGCTCAGCCGGGCTGCTGCCCGAGCCCGGGGGGTGGGGGGCGTCTCCCCGGCCCGTCCCGTCCCCGGCCGGGCGCGGGCGGAGGGACCCCCTCCCCGGGCTCCCGGGGGGCCGCCTCCCTCCGCCGGCTCCCGCCCTCCCAGCCGCCGCCGCCGCCGCGGCCGCTCCTCGGCCCTCCTCCTCCTCCTCCTCCTTCCACCCCCCTCGCCGCCGCCGCCTCCTCCTCCCCCCGCCTCCCCCCGCCCGCCGCGGCGCTTTTGGCTCGGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGCGGCGGCGGCGGCAGCGGCGGCAGCAGCTCCCGCAGCTCCTGCTCTGGTCCGCCTCGGCCCGGCGGCGGCCATCAGCCCCCTCGGCCTCGGCTCGAGGGGCGGGGAGCTGCGCGCGCCCCTCGGTCCGACCGACACCCTCCCCTTCCCGCCCGTCCGCGCGCCCCGCGGCCCGCGGCCCGCAGTCCGCCCCGCGCGCTCCTTGCCGAGGAGCCGAGCCCGCGCCCGGCCCGCCCGCCCGGCGCTGCCCCGGCCCTCCCGGCCCGCGTGAGGCCGCCCGCGCCCGCCGCCGCCGCAGCCCGGCCGCGCCCCGCCGCCGCCGCCGCCGCCGCCATGGGCTGCCTCGGGAACAGTAAGACCGAGGACCAGCGCAACGAGGAGAAGGCGCAGCGTGAGGCCAACAAAAAGATCGAGAAGCAGCTGCAGAAGGACAAGCAGGTCTACCGGGCCACGCACCGCCTGCTGCTGCTGGGTAAGGGCGGGCGGGGGGCGCCGGCCCCGGCCCGGGGGCCCTCGAAGGGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCCCGCCCCGGGCGCGCGCTCCCGAGCCCCCCGCCCGTTCGCGGGCTCTGTCTGTGGGGGGCGAGGCCGGAAGGGGGACCCAGGGGCGCGGATTCGGCCGGGCGGGGGCTCAAAAACGGGGCGGGGGGCCGTGGCGACGCGGGCGCGGGTCCCCCTCCCCCGGCCTGCCCGCTCAGTGTCTCTCTCTTGCTCTCGCTCTCGCTCTCCCCCTCTTTCTCTCTTTCTCTCTTTTTCCGCGAGGCCTACACGACGCCAGGGGTTTGGGTGCGTGTTGGGGAGGGGGAGGGGGAGCCCATGGGGCTCCGGAGACTGCGACAAAAAGAGGGTTTCGGGGACAGGAAACCGGGTGGCGGGTAGAGGGAGGGGGACCCGCCTCCGTGGGGTGTGAGATTTGTTGGGAGAGGGAAAGAGGGGAAGAAAGGGGCGAGGAGAGGAGGGGGTGACGCTGGGGGGCGCCGTGGTGGCGGAGGGGGCCTCGCCAAAGGGAGGCTTTGGCGGGGAGAAGTGGCCGAGGAGAGTGGGGGGGCTGGTGACATCAGCCCCTCGGAAAGGATCGGAGCGGTAAAGGTGGTGCAGTGGGGGGGAGGGGGCGCAAGGGAGTCGTGGCGCCGGAGTCGGGAGGGGGGCGGCGAGGGGAGGAGGGAGGGCGGTTGCCGCTGGGCGCGACTTGGTGCGTTTCGGGCAGGACCGACTGACTGTGTGTGCGCGGAGCAGACGTGTCCCGGGCCAGGCCGGGCCGTGGAAGGAGGAGAAGGAGAGTCAAATAAAATAAGACCACCCCCCAACACCAAAAAATGGATAGAGTTAGTACGAGAAGTGCCCAGTGAAGCCAAATGACACGTCATTTTACAGTGTGACCTTTTTTTCCCCTTCCAGACTTGCAGGCTTTTTCAAAAGCAGAGCGGAGAATTAATTGTAGCAGCTGCCCCCCCCACCCACCACGAGCAGCGCCCCCCCAACACTATTTTAATAAACCATTAAAAAAAACACATTTTCCTGCTGGCTGGCCACATTGAGAGTGCTTTGTGAAAAGAAAAAACAAAGACATTCACAAATCAGATAAAACTGGAGAATGACATTTGTCTGTAAATGGCTTCTTGGTCTGGAAATGGCGTGGTTTCTTTTTTTTTTTTTTTTTTTTTTTGTCCTCCTCAAGGTGGGAGGGGGGATTGAGAGTGCTCTAAGGAGACTTTTCCTCCAGGTGGGAAGAGATAAAAAGACATTAATTAGTTGTTTATCAAGTGACATTTAGTTGTTTGGTTTTGGGTTTTCTTTTTTTGATTGCGATTTTTCCTCTGATTAAAAAAATAATAATAAAATAAAAAAAGGTTAACTATAAGGAGATGGCCTTTCCTCCTTTTTTTTCTTAAGGTGCTGTTTTGGGGGAAAAAAATGTAATGAAATGACCAAAAGAATTACACAGCATTAATTAAAAATGGAAGTTTTCCACTTCCTTGATAATTTGGCTATCTGAATAAATTTGTGAATTTGCTAGGTTAAGACCTAGTTCGTGGTCACATTTCAACAAAACAGCTTGAGTATAAAGAAAATAATAAAAGGCTGTTCTTATTTATTTTCCTTTGGTGGCTTTTGGTTTGCTCTTTTTGCATAGGTCATGACTTTGTTCTCCTGGGTCCAGATTTATAAAAGCAGAAAATTACTAATTAAGTCAAAATAAGTGTCTTTGGTGTTTATGCATTTGCAATTTCAGTAATTAAATGGTACATGTGTTGCTGTCTTGTCTAAAACTTTTAAAGGCAGAATTATGCTGTTGGGATATTAGTATGCGTATAACTTGATTTCAA
benign
315,114
Gene mutation in GNAS (GNAS complex locus) at chromosome 20, position 58891706—is it benign or pathogenic? If pathogenic, specify the disease(s).
benign
TCCCTTTTTCGTTTGCTCATCCTTTTTGGCGCTAACTCTTAGGCAGCCAGCCCAGCAGCCCGAAGCCCGGGCAGCCGCGCTCCGCGGCCCCGGGGCAGCGCGGCGGGAACCGCAGCCAAGCCCCCCGACACGGGGCGCACGGGGGCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGAGCCGCTCGCGCCGCGGAAGAGCGGGGACCCCGAGAAGCTCGCGAAGAACCCCAAGAACCCGGCGCGGGAGGCGCTCCCCGAAAAGTTCCTAACAGACAAGGAGCGCAAGAAGCTCGAGAAGAAGCTGCTGGAGCAGAGGCGAAAGGAGGAGAAGAAGAAGGAGAAGGAGAGGAAGAAGATGGAGAAGATGCTGAAGAAGAAGAAGAAGAAGGTGCCAGAAGCCCAGGAGGAGGCCCGATGCCCCGAGGCCGCCGCCGCCGCGGCCGCCGCCGACGACGACGAGGGCGCCGAGGAGGGCGCCGTCGGGGGCGCCGAGGAGGGCGCCGCCGCCGGGGGCACGAGTAGGGCCTGGGCTGACTGGGACACGGACTCGAGCGACGAGGACGACGCCTACTACGCGGCGCCGCGCGTTGGGGGCATCGTGTGGCGGCCCGGGCCGCTCAAGGCTGGCGCGCTGAGCGCCCACCTGCCCCTCGTGGTGTTCCTGGTCTTCTCGGTGCGCAGCCCCTCGTGGGTGCTCAACTTCCTGCTGCAGAAGCGCACGGAGCAGGGCCGCGGCTGCGGCTTCGTGTTCGGGGCGACCTGCTGCTTCCGAGTGTTCCTGGGCTGCGCCTTCTTCTCCTACTTGGGCGGCCGCGCCAAGCGCAGAGGCCGCGGGCGCTCCGGGGCCAGAGGCGCCTTCGGCTCGGGCCATGGCGCCCGGCGCCGGGGGCGCGAGGAGCGGCTCATCTAGTCAGACCCCCCACCCCGCCACCGCCACCAGACACCACCATCGCTGTGTAGTGTGGGTTTTTATTCGTGTTCGTGTGTGTGTGTGGACACATTTTCCTTTTCGGTTGCTCTGTCCTTTGGTTCGTGCTCGCCTCGCTTTTTCCACACTCCTGCTCTCTGGCTCTCTGTGTCTCTCGCTCTTTCGAAAATTTTCCTAAGTCCGGGCGCGCGCTCCCTCCCCTTCCGCCCACCCCAGCCCCTCGGCGGCGCCCGCGGGAGGGGGAGGAGGCCTCGGGGGCGCCGGGCGACGCGGTCCGGGGGGTGGAGCGTTGGCGTCGTGCGAGGGGTCGTCACTGGCGCGGAGACGCCCCCTCTCCCCCCTCGGCTCAGCCGGGCTGCTGCCCGAGCCCGGGGGGTGGGGGGCGTCTCCCCGGCCCGTCCCGTCCCCGGCCGGGCGCGGGCGGAGGGACCCCCTCCCCGGGCTCCCGGGGGGCCGCCTCCCTCCGCCGGCTCCCGCCCTCCCAGCCGCCGCCGCCGCCGCGGCCGCTCCTCGGCCCTCCTCCTCCTCCTCCTCCTTCCACCCCCCTCGCCGCCGCCGCCTCCTCCTCCCCCCGCCTCCCCCCGCCCGCCGCGGCGCTTTTGGCTCGGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGCGGCGGCGGCGGCAGCGGCGGCAGCAGCTCCCGCAGCTCCTGCTCTGGTCCGCCTCGGCCCGGCGGCGGCCATCAGCCCCCTCGGCCTCGGCTCGAGGGGCGGGGAGCTGCGCGCGCCCCTCGGTCCGACCGACACCCTCCCCTTCCCGCCCGTCCGCGCGCCCCGCGGCCCGCGGCCCGCAGTCCGCCCCGCGCGCTCCTTGCCGAGGAGCCGAGCCCGCGCCCGGCCCGCCCGCCCGGCGCTGCCCCGGCCCTCCCGGCCCGCGTGAGGCCGCCCGCGCCCGCCGCCGCCGCAGCCCGGCCGCGCCCCGCCGCCGCCGCCGCCGCCATGGGCTGCCTCGGGAACAGTAAGACCGAGGACCAGCGCAACGAGGAGAAGGCGCAGCGTGAGGCCAACAAAAAGATCGAGAAGCAGCTGCAGAAGGACAAGCAGGTCTACCGGGCCACGCACCGCCTGCTGCTGCTGGGTAAGGGCGGGCGGGGGGCGCCGGCCCCGGCCCGGGGGCCCTCGAAGGGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCCCGCCCCGGGCGCGCGCTCCCGAGCCCCCCGCCCGTTCGCGGGCTCTGTCTGTGGGGGGCGAGGCCGGAAGGGGGACCCAGGGGCGCGGATTCGGCCGGGCGGGGGCTCAAAAACGGGGCGGGGGGCCGTGGCGACGCGGGCGCGGGTCCCCCTCCCCCGGCCTGCCCGCTCAGTGTCTCTCTCTTGCTCTCGCTCTCGCTCTCCCCCTCTTTCTCTCTTTCTCTCTTTTTCCGCGAGGCCTACACGACGCCAGGGGTTTGGGTGCGTGTTGGGGAGGGGGAGGGGGAGCCCATGGGGCTCCGGAGACTGCGACAAAAAGAGGGTTTCGGGGACAGGAAACCGGGTGGCGGGTAGAGGGAGGGGGACCCGCCTCCGTGGGGTGTGAGATTTGTTGGGAGAGGGAAAGAGGGGAAGAAAGGGGCGAGGAGAGGAGGGGGTGACGCTGGGGGGCGCCGTGGTGGCGGAGGGGGCCTCGCCAAAGGGAGGCTTTGGCGGGGAGAAGTGGCCGAGGAGAGTGGGGGGGCTGGTGACATCAGCCCCTCGGAAAGGATCGGAGCGGTAAAGGTGGTGCAGTGGGGGGGAGGGGGCGCAAGGGAGTCGTGGCGCCGGAGTCGGGAGGGGGGCGGCGAGGGGAGGAGGGAGGGCGGTTGCCGCTGGGCGCGACTTGGTGCGTTTCGGGCAGGACCGACTGACTGTGTGTGCGCGGAGCAGACGTGTCCCGGGCCAGGCCGGGCCGTGGAAGGAGGAGAAGGAGAGTCAAATAAAATAAGACCACCCCCCAACACCAAAAAATGGATAGAGTTAGTACGAGAAGTGCCCAGTGAAGCCAAATGACACGTCATTTTACAGTGTGACCTTTTTTTCCCCTTCCAGACTTGCAGGCTTTTTCAAAAGCAGAGCGGAGAATTAATTGTAGCAGCTGCCCCCCCCACCCACCACGAGCAGCGCCCCCCCAACACTATTTTAATAAACCATTAAAAAAAACACATTTTCCTGCTGGCTGGCCACATTGAGAGTGCTTTGTGAAAAGAAAAAACAAAGACATTCACAAATCAGATAAAACTGGAGAATGACATTTGTCTGTAAATGGCTTCTTGGTCTGGAAATGGCGTGGTTTCTTTTTTTTTTTTTTTTTTTTTTTGTCCTCCTCAAGGTGGGAGGGGGGATTGAGAGTGCTCTAAGGAGACTTTTCCTCCAGGTGGGAAGAGATAAAAAGACATTAATTAGTTGTTTATCAAGTGACATTTAGTTGTTTGGTTTTGGGTTTTCTTTTTTTGATTGCGATTTTTCCTCTGATTAAAAAAATAATAATAAAATAAAAAAAGGTTAACTATAAGGAGATGGCCTTTCCTCCTTTTTTTTCTTAAGGTGCTGTTTTGGGGGAAAAAAATGTAATGAAATGACCAAAAGAATTACACAGCATTAATTAAAAATGGAAGTTTTCCACTTCCTTGATAATTTGGCTATCTGAATAAATTTGTGAATTTGCTAGGTTAAGACCTAGTTCGTGGTCACATTTCAACAAAACAGCTTGAGTATAAAGAAAATAATAAAAGGCTGTTCTTATTTATTTTCCTTTGGTGGCTTTTGGTTTGCTCTTTTTGCATAGGTCATGACTTTGTTCTCCTGGGTCCAGATTTATAAAAGCAGAAAATTACTAATTAAGTCAAAATAAGTGTCTTTGGTGTTTATGCATTTGCAATTTCAGTAATTAAATGGTACATGTGTTGCTGTCTTGTCTAAAACTTTTAAAGGCAGAATTATGCTGTTGGGATATTAGTATGCGTATAACTTGATTTCAAAGT
TCCCTTTTTCGTTTGCTCATCCTTTTTGGCGCTAACTCTTAGGCAGCCAGCCCAGCAGCCCGAAGCCCGGGCAGCCGCGCTCCGCGGCCCCGGGGCAGCGCGGCGGGAACCGCAGCCAAGCCCCCCGACACGGGGCGCACGGGGGCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGAGCCGCTCGCGCCGCGGAAGAGCGGGGACCCCGAGAAGCTCGCGAAGAACCCCAAGAACCCGGCGCGGGAGGCGCTCCCCGAAAAGTTCCTAACAGACAAGGAGCGCAAGAAGCTCGAGAAGAAGCTGCTGGAGCAGAGGCGAAAGGAGGAGAAGAAGAAGGAGAAGGAGAGGAAGAAGATGGAGAAGATGCTGAAGAAGAAGAAGAAGAAGGTGCCAGAAGCCCAGGAGGAGGCCCGATGCCCCGAGGCCGCCGCCGCCGCGGCCGCCGCCGACGACGACGAGGGCGCCGAGGAGGGCGCCGTCGGGGGCGCCGAGGAGGGCGCCGCCGCCGGGGGCACGAGTAGGGCCTGGGCTGACTGGGACACGGACTCGAGCGACGAGGACGACGCCTACTACGCGGCGCCGCGCGTTGGGGGCATCGTGTGGCGGCCCGGGCCGCTCAAGGCTGGCGCGCTGAGCGCCCACCTGCCCCTCGTGGTGTTCCTGGTCTTCTCGGTGCGCAGCCCCTCGTGGGTGCTCAACTTCCTGCTGCAGAAGCGCACGGAGCAGGGCCGCGGCTGCGGCTTCGTGTTCGGGGCGACCTGCTGCTTCCGAGTGTTCCTGGGCTGCGCCTTCTTCTCCTACTTGGGCGGCCGCGCCAAGCGCAGAGGCCGCGGGCGCTCCGGGGCCAGAGGCGCCTTCGGCTCGGGCCATGGCGCCCGGCGCCGGGGGCGCGAGGAGCGGCTCATCTAGTCAGACCCCCCACCCCGCCACCGCCACCAGACACCACCATCGCTGTGTAGTGTGGGTTTTTATTCGTGTTCGTGTGTGTGTGTGGACACATTTTCCTTTTCGGTTGCTCTGTCCTTTGGTTCGTGCTCGCCTCGCTTTTTCCACACTCCTGCTCTCTGGCTCTCTGTGTCTCTCGCTCTTTCGAAAATTTTCCTAAGTCCGGGCGCGCGCTCCCTCCCCTTCCGCCCACCCCAGCCCCTCGGCGGCGCCCGCGGGAGGGGGAGGAGGCCTCGGGGGCGCCGGGCGACGCGGTCCGGGGGGTGGAGCGTTGGCGTCGTGCGAGGGGTCGTCACTGGCGCGGAGACGCCCCCTCTCCCCCCTCGGCTCAGCCGGGCTGCTGCCCGAGCCCGGGGGGTGGGGGGCGTCTCCCCGGCCCGTCCCGTCCCCGGCCGGGCGCGGGCGGAGGGACCCCCTCCCCGGGCTCCCGGGGGGCCGCCTCCCTCCGCCGGCTCCCGCCCTCCCAGCCGCCGCCGCCGCCGCGGCCGCTCCTCGGCCCTCCTCCTCCTCCTCCTCCTTCCACCCCCCTCGCCGCCGCCGCCTCCTCCTCCCCCCGCCTCCCCCCGCCCGCCGCGGCGCTTTTGGCTCGGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGCGGCGGCGGCGGCAGCGGCGGCAGCAGCTCCCGCAGCTCCTGCTCTGGTCCGCCTCGGCCCGGCGGCGGCCATCAGCCCCCTCGGCCTCGGCTCGAGGGGCGGGGAGCTGCGCGCGCCCCTCGGTCCGACCGACACCCTCCCCTTCCCGCCCGTCCGCGCGCCCCGCGGCCCGCGGCCCGCAGTCCGCCCCGCGCGCTCCTTGCCGAGGAGCCGAGCCCGCGCCCGGCCCGCCCGCCCGGCGCTGCCCCGGCCCTCCCGGCCCGCGTGAGGCCGCCCGCGCCCGCCGCCGCCGCAGCCCGGCCGCGCCCCGCCGCCGCCGCCGCCGCCGCCGCCATGGGCTGCCTCGGGAACAGTAAGACCGAGGACCAGCGCAACGAGGAGAAGGCGCAGCGTGAGGCCAACAAAAAGATCGAGAAGCAGCTGCAGAAGGACAAGCAGGTCTACCGGGCCACGCACCGCCTGCTGCTGCTGGGTAAGGGCGGGCGGGGGGCGCCGGCCCCGGCCCGGGGGCCCTCGAAGGGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCCCGCCCCGGGCGCGCGCTCCCGAGCCCCCCGCCCGTTCGCGGGCTCTGTCTGTGGGGGGCGAGGCCGGAAGGGGGACCCAGGGGCGCGGATTCGGCCGGGCGGGGGCTCAAAAACGGGGCGGGGGGCCGTGGCGACGCGGGCGCGGGTCCCCCTCCCCCGGCCTGCCCGCTCAGTGTCTCTCTCTTGCTCTCGCTCTCGCTCTCCCCCTCTTTCTCTCTTTCTCTCTTTTTCCGCGAGGCCTACACGACGCCAGGGGTTTGGGTGCGTGTTGGGGAGGGGGAGGGGGAGCCCATGGGGCTCCGGAGACTGCGACAAAAAGAGGGTTTCGGGGACAGGAAACCGGGTGGCGGGTAGAGGGAGGGGGACCCGCCTCCGTGGGGTGTGAGATTTGTTGGGAGAGGGAAAGAGGGGAAGAAAGGGGCGAGGAGAGGAGGGGGTGACGCTGGGGGGCGCCGTGGTGGCGGAGGGGGCCTCGCCAAAGGGAGGCTTTGGCGGGGAGAAGTGGCCGAGGAGAGTGGGGGGGCTGGTGACATCAGCCCCTCGGAAAGGATCGGAGCGGTAAAGGTGGTGCAGTGGGGGGGAGGGGGCGCAAGGGAGTCGTGGCGCCGGAGTCGGGAGGGGGGCGGCGAGGGGAGGAGGGAGGGCGGTTGCCGCTGGGCGCGACTTGGTGCGTTTCGGGCAGGACCGACTGACTGTGTGTGCGCGGAGCAGACGTGTCCCGGGCCAGGCCGGGCCGTGGAAGGAGGAGAAGGAGAGTCAAATAAAATAAGACCACCCCCCAACACCAAAAAATGGATAGAGTTAGTACGAGAAGTGCCCAGTGAAGCCAAATGACACGTCATTTTACAGTGTGACCTTTTTTTCCCCTTCCAGACTTGCAGGCTTTTTCAAAAGCAGAGCGGAGAATTAATTGTAGCAGCTGCCCCCCCCACCCACCACGAGCAGCGCCCCCCCAACACTATTTTAATAAACCATTAAAAAAAACACATTTTCCTGCTGGCTGGCCACATTGAGAGTGCTTTGTGAAAAGAAAAAACAAAGACATTCACAAATCAGATAAAACTGGAGAATGACATTTGTCTGTAAATGGCTTCTTGGTCTGGAAATGGCGTGGTTTCTTTTTTTTTTTTTTTTTTTTTTTGTCCTCCTCAAGGTGGGAGGGGGGATTGAGAGTGCTCTAAGGAGACTTTTCCTCCAGGTGGGAAGAGATAAAAAGACATTAATTAGTTGTTTATCAAGTGACATTTAGTTGTTTGGTTTTGGGTTTTCTTTTTTTGATTGCGATTTTTCCTCTGATTAAAAAAATAATAATAAAATAAAAAAAGGTTAACTATAAGGAGATGGCCTTTCCTCCTTTTTTTTCTTAAGGTGCTGTTTTGGGGGAAAAAAATGTAATGAAATGACCAAAAGAATTACACAGCATTAATTAAAAATGGAAGTTTTCCACTTCCTTGATAATTTGGCTATCTGAATAAATTTGTGAATTTGCTAGGTTAAGACCTAGTTCGTGGTCACATTTCAACAAAACAGCTTGAGTATAAAGAAAATAATAAAAGGCTGTTCTTATTTATTTTCCTTTGGTGGCTTTTGGTTTGCTCTTTTTGCATAGGTCATGACTTTGTTCTCCTGGGTCCAGATTTATAAAAGCAGAAAATTACTAATTAAGTCAAAATAAGTGTCTTTGGTGTTTATGCATTTGCAATTTCAGTAATTAAATGGTACATGTGTTGCTGTCTTGTCTAAAACTTTTAAAGGCAGAATTATGCTGTTGGGATATTAGTATGCGTATAACTTGATTT
benign
315,115
Considering the variant on chromosome 20, location 58891722, involving gene GNAS (GNAS complex locus), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
pathogenic; ['Disorders_of_GNAS_Inactivation']
TCATCCTTTTTGGCGCTAACTCTTAGGCAGCCAGCCCAGCAGCCCGAAGCCCGGGCAGCCGCGCTCCGCGGCCCCGGGGCAGCGCGGCGGGAACCGCAGCCAAGCCCCCCGACACGGGGCGCACGGGGGCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGAGCCGCTCGCGCCGCGGAAGAGCGGGGACCCCGAGAAGCTCGCGAAGAACCCCAAGAACCCGGCGCGGGAGGCGCTCCCCGAAAAGTTCCTAACAGACAAGGAGCGCAAGAAGCTCGAGAAGAAGCTGCTGGAGCAGAGGCGAAAGGAGGAGAAGAAGAAGGAGAAGGAGAGGAAGAAGATGGAGAAGATGCTGAAGAAGAAGAAGAAGAAGGTGCCAGAAGCCCAGGAGGAGGCCCGATGCCCCGAGGCCGCCGCCGCCGCGGCCGCCGCCGACGACGACGAGGGCGCCGAGGAGGGCGCCGTCGGGGGCGCCGAGGAGGGCGCCGCCGCCGGGGGCACGAGTAGGGCCTGGGCTGACTGGGACACGGACTCGAGCGACGAGGACGACGCCTACTACGCGGCGCCGCGCGTTGGGGGCATCGTGTGGCGGCCCGGGCCGCTCAAGGCTGGCGCGCTGAGCGCCCACCTGCCCCTCGTGGTGTTCCTGGTCTTCTCGGTGCGCAGCCCCTCGTGGGTGCTCAACTTCCTGCTGCAGAAGCGCACGGAGCAGGGCCGCGGCTGCGGCTTCGTGTTCGGGGCGACCTGCTGCTTCCGAGTGTTCCTGGGCTGCGCCTTCTTCTCCTACTTGGGCGGCCGCGCCAAGCGCAGAGGCCGCGGGCGCTCCGGGGCCAGAGGCGCCTTCGGCTCGGGCCATGGCGCCCGGCGCCGGGGGCGCGAGGAGCGGCTCATCTAGTCAGACCCCCCACCCCGCCACCGCCACCAGACACCACCATCGCTGTGTAGTGTGGGTTTTTATTCGTGTTCGTGTGTGTGTGTGGACACATTTTCCTTTTCGGTTGCTCTGTCCTTTGGTTCGTGCTCGCCTCGCTTTTTCCACACTCCTGCTCTCTGGCTCTCTGTGTCTCTCGCTCTTTCGAAAATTTTCCTAAGTCCGGGCGCGCGCTCCCTCCCCTTCCGCCCACCCCAGCCCCTCGGCGGCGCCCGCGGGAGGGGGAGGAGGCCTCGGGGGCGCCGGGCGACGCGGTCCGGGGGGTGGAGCGTTGGCGTCGTGCGAGGGGTCGTCACTGGCGCGGAGACGCCCCCTCTCCCCCCTCGGCTCAGCCGGGCTGCTGCCCGAGCCCGGGGGGTGGGGGGCGTCTCCCCGGCCCGTCCCGTCCCCGGCCGGGCGCGGGCGGAGGGACCCCCTCCCCGGGCTCCCGGGGGGCCGCCTCCCTCCGCCGGCTCCCGCCCTCCCAGCCGCCGCCGCCGCCGCGGCCGCTCCTCGGCCCTCCTCCTCCTCCTCCTCCTTCCACCCCCCTCGCCGCCGCCGCCTCCTCCTCCCCCCGCCTCCCCCCGCCCGCCGCGGCGCTTTTGGCTCGGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGCGGCGGCGGCGGCAGCGGCGGCAGCAGCTCCCGCAGCTCCTGCTCTGGTCCGCCTCGGCCCGGCGGCGGCCATCAGCCCCCTCGGCCTCGGCTCGAGGGGCGGGGAGCTGCGCGCGCCCCTCGGTCCGACCGACACCCTCCCCTTCCCGCCCGTCCGCGCGCCCCGCGGCCCGCGGCCCGCAGTCCGCCCCGCGCGCTCCTTGCCGAGGAGCCGAGCCCGCGCCCGGCCCGCCCGCCCGGCGCTGCCCCGGCCCTCCCGGCCCGCGTGAGGCCGCCCGCGCCCGCCGCCGCCGCAGCCCGGCCGCGCCCCGCCGCCGCCGCCGCCGCCATGGGCTGCCTCGGGAACAGTAAGACCGAGGACCAGCGCAACGAGGAGAAGGCGCAGCGTGAGGCCAACAAAAAGATCGAGAAGCAGCTGCAGAAGGACAAGCAGGTCTACCGGGCCACGCACCGCCTGCTGCTGCTGGGTAAGGGCGGGCGGGGGGCGCCGGCCCCGGCCCGGGGGCCCTCGAAGGGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCCCGCCCCGGGCGCGCGCTCCCGAGCCCCCCGCCCGTTCGCGGGCTCTGTCTGTGGGGGGCGAGGCCGGAAGGGGGACCCAGGGGCGCGGATTCGGCCGGGCGGGGGCTCAAAAACGGGGCGGGGGGCCGTGGCGACGCGGGCGCGGGTCCCCCTCCCCCGGCCTGCCCGCTCAGTGTCTCTCTCTTGCTCTCGCTCTCGCTCTCCCCCTCTTTCTCTCTTTCTCTCTTTTTCCGCGAGGCCTACACGACGCCAGGGGTTTGGGTGCGTGTTGGGGAGGGGGAGGGGGAGCCCATGGGGCTCCGGAGACTGCGACAAAAAGAGGGTTTCGGGGACAGGAAACCGGGTGGCGGGTAGAGGGAGGGGGACCCGCCTCCGTGGGGTGTGAGATTTGTTGGGAGAGGGAAAGAGGGGAAGAAAGGGGCGAGGAGAGGAGGGGGTGACGCTGGGGGGCGCCGTGGTGGCGGAGGGGGCCTCGCCAAAGGGAGGCTTTGGCGGGGAGAAGTGGCCGAGGAGAGTGGGGGGGCTGGTGACATCAGCCCCTCGGAAAGGATCGGAGCGGTAAAGGTGGTGCAGTGGGGGGGAGGGGGCGCAAGGGAGTCGTGGCGCCGGAGTCGGGAGGGGGGCGGCGAGGGGAGGAGGGAGGGCGGTTGCCGCTGGGCGCGACTTGGTGCGTTTCGGGCAGGACCGACTGACTGTGTGTGCGCGGAGCAGACGTGTCCCGGGCCAGGCCGGGCCGTGGAAGGAGGAGAAGGAGAGTCAAATAAAATAAGACCACCCCCCAACACCAAAAAATGGATAGAGTTAGTACGAGAAGTGCCCAGTGAAGCCAAATGACACGTCATTTTACAGTGTGACCTTTTTTTCCCCTTCCAGACTTGCAGGCTTTTTCAAAAGCAGAGCGGAGAATTAATTGTAGCAGCTGCCCCCCCCACCCACCACGAGCAGCGCCCCCCCAACACTATTTTAATAAACCATTAAAAAAAACACATTTTCCTGCTGGCTGGCCACATTGAGAGTGCTTTGTGAAAAGAAAAAACAAAGACATTCACAAATCAGATAAAACTGGAGAATGACATTTGTCTGTAAATGGCTTCTTGGTCTGGAAATGGCGTGGTTTCTTTTTTTTTTTTTTTTTTTTTTTGTCCTCCTCAAGGTGGGAGGGGGGATTGAGAGTGCTCTAAGGAGACTTTTCCTCCAGGTGGGAAGAGATAAAAAGACATTAATTAGTTGTTTATCAAGTGACATTTAGTTGTTTGGTTTTGGGTTTTCTTTTTTTGATTGCGATTTTTCCTCTGATTAAAAAAATAATAATAAAATAAAAAAAGGTTAACTATAAGGAGATGGCCTTTCCTCCTTTTTTTTCTTAAGGTGCTGTTTTGGGGGAAAAAAATGTAATGAAATGACCAAAAGAATTACACAGCATTAATTAAAAATGGAAGTTTTCCACTTCCTTGATAATTTGGCTATCTGAATAAATTTGTGAATTTGCTAGGTTAAGACCTAGTTCGTGGTCACATTTCAACAAAACAGCTTGAGTATAAAGAAAATAATAAAAGGCTGTTCTTATTTATTTTCCTTTGGTGGCTTTTGGTTTGCTCTTTTTGCATAGGTCATGACTTTGTTCTCCTGGGTCCAGATTTATAAAAGCAGAAAATTACTAATTAAGTCAAAATAAGTGTCTTTGGTGTTTATGCATTTGCAATTTCAGTAATTAAATGGTACATGTGTTGCTGTCTTGTCTAAAACTTTTAAAGGCAGAATTATGCTGTTGGGATATTAGTATGCGTATAACTTGATTTCAAAGTATAAATCTGGAAAAGT
TCATCCTTTTTGGCGCTAACTCTTAGGCAGCCAGCCCAGCAGCCCGAAGCCCGGGCAGCCGCGCTCCGCGGCCCCGGGGCAGCGCGGCGGGAACCGCAGCCAAGCCCCCCGACACGGGGCGCACGGGGGCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGAGCCGCTCGCGCCGCGGAAGAGCGGGGACCCCGAGAAGCTCGCGAAGAACCCCAAGAACCCGGCGCGGGAGGCGCTCCCCGAAAAGTTCCTAACAGACAAGGAGCGCAAGAAGCTCGAGAAGAAGCTGCTGGAGCAGAGGCGAAAGGAGGAGAAGAAGAAGGAGAAGGAGAGGAAGAAGATGGAGAAGATGCTGAAGAAGAAGAAGAAGAAGGTGCCAGAAGCCCAGGAGGAGGCCCGATGCCCCGAGGCCGCCGCCGCCGCGGCCGCCGCCGACGACGACGAGGGCGCCGAGGAGGGCGCCGTCGGGGGCGCCGAGGAGGGCGCCGCCGCCGGGGGCACGAGTAGGGCCTGGGCTGACTGGGACACGGACTCGAGCGACGAGGACGACGCCTACTACGCGGCGCCGCGCGTTGGGGGCATCGTGTGGCGGCCCGGGCCGCTCAAGGCTGGCGCGCTGAGCGCCCACCTGCCCCTCGTGGTGTTCCTGGTCTTCTCGGTGCGCAGCCCCTCGTGGGTGCTCAACTTCCTGCTGCAGAAGCGCACGGAGCAGGGCCGCGGCTGCGGCTTCGTGTTCGGGGCGACCTGCTGCTTCCGAGTGTTCCTGGGCTGCGCCTTCTTCTCCTACTTGGGCGGCCGCGCCAAGCGCAGAGGCCGCGGGCGCTCCGGGGCCAGAGGCGCCTTCGGCTCGGGCCATGGCGCCCGGCGCCGGGGGCGCGAGGAGCGGCTCATCTAGTCAGACCCCCCACCCCGCCACCGCCACCAGACACCACCATCGCTGTGTAGTGTGGGTTTTTATTCGTGTTCGTGTGTGTGTGTGGACACATTTTCCTTTTCGGTTGCTCTGTCCTTTGGTTCGTGCTCGCCTCGCTTTTTCCACACTCCTGCTCTCTGGCTCTCTGTGTCTCTCGCTCTTTCGAAAATTTTCCTAAGTCCGGGCGCGCGCTCCCTCCCCTTCCGCCCACCCCAGCCCCTCGGCGGCGCCCGCGGGAGGGGGAGGAGGCCTCGGGGGCGCCGGGCGACGCGGTCCGGGGGGTGGAGCGTTGGCGTCGTGCGAGGGGTCGTCACTGGCGCGGAGACGCCCCCTCTCCCCCCTCGGCTCAGCCGGGCTGCTGCCCGAGCCCGGGGGGTGGGGGGCGTCTCCCCGGCCCGTCCCGTCCCCGGCCGGGCGCGGGCGGAGGGACCCCCTCCCCGGGCTCCCGGGGGGCCGCCTCCCTCCGCCGGCTCCCGCCCTCCCAGCCGCCGCCGCCGCCGCGGCCGCTCCTCGGCCCTCCTCCTCCTCCTCCTCCTTCCACCCCCCTCGCCGCCGCCGCCTCCTCCTCCCCCCGCCTCCCCCCGCCCGCCGCGGCGCTTTTGGCTCGGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGCGGCGGCGGCGGCAGCGGCGGCAGCAGCTCCCGCAGCTCCTGCTCTGGTCCGCCTCGGCCCGGCGGCGGCCATCAGCCCCCTCGGCCTCGGCTCGAGGGGCGGGGAGCTGCGCGCGCCCCTCGGTCCGACCGACACCCTCCCCTTCCCGCCCGTCCGCGCGCCCCGCGGCCCGCGGCCCGCAGTCCGCCCCGCGCGCTCCTTGCCGAGGAGCCGAGCCCGCGCCCGGCCCGCCCGCCCGGCGCTGCCCCGGCCCTCCCGGCCCGCGTGAGGCCGCCCGCGCCCGCCGCCGCCGCAGCCCGGCCGCGCCCCGCCGCCGCCGCCGCGGGCTGCCTCGGGAACAGTAAGACCGAGGACCAGCGCAACGAGGAGAAGGCGCAGCGTGAGGCCAACAAAAAGATCGAGAAGCAGCTGCAGAAGGACAAGCAGGTCTACCGGGCCACGCACCGCCTGCTGCTGCTGGGTAAGGGCGGGCGGGGGGCGCCGGCCCCGGCCCGGGGGCCCTCGAAGGGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCCCGCCCCGGGCGCGCGCTCCCGAGCCCCCCGCCCGTTCGCGGGCTCTGTCTGTGGGGGGCGAGGCCGGAAGGGGGACCCAGGGGCGCGGATTCGGCCGGGCGGGGGCTCAAAAACGGGGCGGGGGGCCGTGGCGACGCGGGCGCGGGTCCCCCTCCCCCGGCCTGCCCGCTCAGTGTCTCTCTCTTGCTCTCGCTCTCGCTCTCCCCCTCTTTCTCTCTTTCTCTCTTTTTCCGCGAGGCCTACACGACGCCAGGGGTTTGGGTGCGTGTTGGGGAGGGGGAGGGGGAGCCCATGGGGCTCCGGAGACTGCGACAAAAAGAGGGTTTCGGGGACAGGAAACCGGGTGGCGGGTAGAGGGAGGGGGACCCGCCTCCGTGGGGTGTGAGATTTGTTGGGAGAGGGAAAGAGGGGAAGAAAGGGGCGAGGAGAGGAGGGGGTGACGCTGGGGGGCGCCGTGGTGGCGGAGGGGGCCTCGCCAAAGGGAGGCTTTGGCGGGGAGAAGTGGCCGAGGAGAGTGGGGGGGCTGGTGACATCAGCCCCTCGGAAAGGATCGGAGCGGTAAAGGTGGTGCAGTGGGGGGGAGGGGGCGCAAGGGAGTCGTGGCGCCGGAGTCGGGAGGGGGGCGGCGAGGGGAGGAGGGAGGGCGGTTGCCGCTGGGCGCGACTTGGTGCGTTTCGGGCAGGACCGACTGACTGTGTGTGCGCGGAGCAGACGTGTCCCGGGCCAGGCCGGGCCGTGGAAGGAGGAGAAGGAGAGTCAAATAAAATAAGACCACCCCCCAACACCAAAAAATGGATAGAGTTAGTACGAGAAGTGCCCAGTGAAGCCAAATGACACGTCATTTTACAGTGTGACCTTTTTTTCCCCTTCCAGACTTGCAGGCTTTTTCAAAAGCAGAGCGGAGAATTAATTGTAGCAGCTGCCCCCCCCACCCACCACGAGCAGCGCCCCCCCAACACTATTTTAATAAACCATTAAAAAAAACACATTTTCCTGCTGGCTGGCCACATTGAGAGTGCTTTGTGAAAAGAAAAAACAAAGACATTCACAAATCAGATAAAACTGGAGAATGACATTTGTCTGTAAATGGCTTCTTGGTCTGGAAATGGCGTGGTTTCTTTTTTTTTTTTTTTTTTTTTTTGTCCTCCTCAAGGTGGGAGGGGGGATTGAGAGTGCTCTAAGGAGACTTTTCCTCCAGGTGGGAAGAGATAAAAAGACATTAATTAGTTGTTTATCAAGTGACATTTAGTTGTTTGGTTTTGGGTTTTCTTTTTTTGATTGCGATTTTTCCTCTGATTAAAAAAATAATAATAAAATAAAAAAAGGTTAACTATAAGGAGATGGCCTTTCCTCCTTTTTTTTCTTAAGGTGCTGTTTTGGGGGAAAAAAATGTAATGAAATGACCAAAAGAATTACACAGCATTAATTAAAAATGGAAGTTTTCCACTTCCTTGATAATTTGGCTATCTGAATAAATTTGTGAATTTGCTAGGTTAAGACCTAGTTCGTGGTCACATTTCAACAAAACAGCTTGAGTATAAAGAAAATAATAAAAGGCTGTTCTTATTTATTTTCCTTTGGTGGCTTTTGGTTTGCTCTTTTTGCATAGGTCATGACTTTGTTCTCCTGGGTCCAGATTTATAAAAGCAGAAAATTACTAATTAAGTCAAAATAAGTGTCTTTGGTGTTTATGCATTTGCAATTTCAGTAATTAAATGGTACATGTGTTGCTGTCTTGTCTAAAACTTTTAAAGGCAGAATTATGCTGTTGGGATATTAGTATGCGTATAACTTGATTTCAAAGTATAAATCTGGAAAAGTNNNNNN
pathogenic
315,116
Evaluate if the mutation on chromosome 20 at position 58891852 in GNAS (GNAS complex locus) is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['GNAS-related_disorder', 'Pseudohypoparathyroidism_type_I_A']
CGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGAGCCGCTCGCGCCGCGGAAGAGCGGGGACCCCGAGAAGCTCGCGAAGAACCCCAAGAACCCGGCGCGGGAGGCGCTCCCCGAAAAGTTCCTAACAGACAAGGAGCGCAAGAAGCTCGAGAAGAAGCTGCTGGAGCAGAGGCGAAAGGAGGAGAAGAAGAAGGAGAAGGAGAGGAAGAAGATGGAGAAGATGCTGAAGAAGAAGAAGAAGAAGGTGCCAGAAGCCCAGGAGGAGGCCCGATGCCCCGAGGCCGCCGCCGCCGCGGCCGCCGCCGACGACGACGAGGGCGCCGAGGAGGGCGCCGTCGGGGGCGCCGAGGAGGGCGCCGCCGCCGGGGGCACGAGTAGGGCCTGGGCTGACTGGGACACGGACTCGAGCGACGAGGACGACGCCTACTACGCGGCGCCGCGCGTTGGGGGCATCGTGTGGCGGCCCGGGCCGCTCAAGGCTGGCGCGCTGAGCGCCCACCTGCCCCTCGTGGTGTTCCTGGTCTTCTCGGTGCGCAGCCCCTCGTGGGTGCTCAACTTCCTGCTGCAGAAGCGCACGGAGCAGGGCCGCGGCTGCGGCTTCGTGTTCGGGGCGACCTGCTGCTTCCGAGTGTTCCTGGGCTGCGCCTTCTTCTCCTACTTGGGCGGCCGCGCCAAGCGCAGAGGCCGCGGGCGCTCCGGGGCCAGAGGCGCCTTCGGCTCGGGCCATGGCGCCCGGCGCCGGGGGCGCGAGGAGCGGCTCATCTAGTCAGACCCCCCACCCCGCCACCGCCACCAGACACCACCATCGCTGTGTAGTGTGGGTTTTTATTCGTGTTCGTGTGTGTGTGTGGACACATTTTCCTTTTCGGTTGCTCTGTCCTTTGGTTCGTGCTCGCCTCGCTTTTTCCACACTCCTGCTCTCTGGCTCTCTGTGTCTCTCGCTCTTTCGAAAATTTTCCTAAGTCCGGGCGCGCGCTCCCTCCCCTTCCGCCCACCCCAGCCCCTCGGCGGCGCCCGCGGGAGGGGGAGGAGGCCTCGGGGGCGCCGGGCGACGCGGTCCGGGGGGTGGAGCGTTGGCGTCGTGCGAGGGGTCGTCACTGGCGCGGAGACGCCCCCTCTCCCCCCTCGGCTCAGCCGGGCTGCTGCCCGAGCCCGGGGGGTGGGGGGCGTCTCCCCGGCCCGTCCCGTCCCCGGCCGGGCGCGGGCGGAGGGACCCCCTCCCCGGGCTCCCGGGGGGCCGCCTCCCTCCGCCGGCTCCCGCCCTCCCAGCCGCCGCCGCCGCCGCGGCCGCTCCTCGGCCCTCCTCCTCCTCCTCCTCCTTCCACCCCCCTCGCCGCCGCCGCCTCCTCCTCCCCCCGCCTCCCCCCGCCCGCCGCGGCGCTTTTGGCTCGGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGCGGCGGCGGCGGCAGCGGCGGCAGCAGCTCCCGCAGCTCCTGCTCTGGTCCGCCTCGGCCCGGCGGCGGCCATCAGCCCCCTCGGCCTCGGCTCGAGGGGCGGGGAGCTGCGCGCGCCCCTCGGTCCGACCGACACCCTCCCCTTCCCGCCCGTCCGCGCGCCCCGCGGCCCGCGGCCCGCAGTCCGCCCCGCGCGCTCCTTGCCGAGGAGCCGAGCCCGCGCCCGGCCCGCCCGCCCGGCGCTGCCCCGGCCCTCCCGGCCCGCGTGAGGCCGCCCGCGCCCGCCGCCGCCGCAGCCCGGCCGCGCCCCGCCGCCGCCGCCGCCGCCATGGGCTGCCTCGGGAACAGTAAGACCGAGGACCAGCGCAACGAGGAGAAGGCGCAGCGTGAGGCCAACAAAAAGATCGAGAAGCAGCTGCAGAAGGACAAGCAGGTCTACCGGGCCACGCACCGCCTGCTGCTGCTGGGTAAGGGCGGGCGGGGGGCGCCGGCCCCGGCCCGGGGGCCCTCGAAGGGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCCCGCCCCGGGCGCGCGCTCCCGAGCCCCCCGCCCGTTCGCGGGCTCTGTCTGTGGGGGGCGAGGCCGGAAGGGGGACCCAGGGGCGCGGATTCGGCCGGGCGGGGGCTCAAAAACGGGGCGGGGGGCCGTGGCGACGCGGGCGCGGGTCCCCCTCCCCCGGCCTGCCCGCTCAGTGTCTCTCTCTTGCTCTCGCTCTCGCTCTCCCCCTCTTTCTCTCTTTCTCTCTTTTTCCGCGAGGCCTACACGACGCCAGGGGTTTGGGTGCGTGTTGGGGAGGGGGAGGGGGAGCCCATGGGGCTCCGGAGACTGCGACAAAAAGAGGGTTTCGGGGACAGGAAACCGGGTGGCGGGTAGAGGGAGGGGGACCCGCCTCCGTGGGGTGTGAGATTTGTTGGGAGAGGGAAAGAGGGGAAGAAAGGGGCGAGGAGAGGAGGGGGTGACGCTGGGGGGCGCCGTGGTGGCGGAGGGGGCCTCGCCAAAGGGAGGCTTTGGCGGGGAGAAGTGGCCGAGGAGAGTGGGGGGGCTGGTGACATCAGCCCCTCGGAAAGGATCGGAGCGGTAAAGGTGGTGCAGTGGGGGGGAGGGGGCGCAAGGGAGTCGTGGCGCCGGAGTCGGGAGGGGGGCGGCGAGGGGAGGAGGGAGGGCGGTTGCCGCTGGGCGCGACTTGGTGCGTTTCGGGCAGGACCGACTGACTGTGTGTGCGCGGAGCAGACGTGTCCCGGGCCAGGCCGGGCCGTGGAAGGAGGAGAAGGAGAGTCAAATAAAATAAGACCACCCCCCAACACCAAAAAATGGATAGAGTTAGTACGAGAAGTGCCCAGTGAAGCCAAATGACACGTCATTTTACAGTGTGACCTTTTTTTCCCCTTCCAGACTTGCAGGCTTTTTCAAAAGCAGAGCGGAGAATTAATTGTAGCAGCTGCCCCCCCCACCCACCACGAGCAGCGCCCCCCCAACACTATTTTAATAAACCATTAAAAAAAACACATTTTCCTGCTGGCTGGCCACATTGAGAGTGCTTTGTGAAAAGAAAAAACAAAGACATTCACAAATCAGATAAAACTGGAGAATGACATTTGTCTGTAAATGGCTTCTTGGTCTGGAAATGGCGTGGTTTCTTTTTTTTTTTTTTTTTTTTTTTGTCCTCCTCAAGGTGGGAGGGGGGATTGAGAGTGCTCTAAGGAGACTTTTCCTCCAGGTGGGAAGAGATAAAAAGACATTAATTAGTTGTTTATCAAGTGACATTTAGTTGTTTGGTTTTGGGTTTTCTTTTTTTGATTGCGATTTTTCCTCTGATTAAAAAAATAATAATAAAATAAAAAAAGGTTAACTATAAGGAGATGGCCTTTCCTCCTTTTTTTTCTTAAGGTGCTGTTTTGGGGGAAAAAAATGTAATGAAATGACCAAAAGAATTACACAGCATTAATTAAAAATGGAAGTTTTCCACTTCCTTGATAATTTGGCTATCTGAATAAATTTGTGAATTTGCTAGGTTAAGACCTAGTTCGTGGTCACATTTCAACAAAACAGCTTGAGTATAAAGAAAATAATAAAAGGCTGTTCTTATTTATTTTCCTTTGGTGGCTTTTGGTTTGCTCTTTTTGCATAGGTCATGACTTTGTTCTCCTGGGTCCAGATTTATAAAAGCAGAAAATTACTAATTAAGTCAAAATAAGTGTCTTTGGTGTTTATGCATTTGCAATTTCAGTAATTAAATGGTACATGTGTTGCTGTCTTGTCTAAAACTTTTAAAGGCAGAATTATGCTGTTGGGATATTAGTATGCGTATAACTTGATTTCAAAGTATAAATCTGGAAAAGTCTAGAATCTTTTCTGTGAATGCTATCTCAGTACTACTTTAAGTCAAGTGTGATGCTAATGATATCTTAAAATTTCCAACACCTTTTGTGCAGTGATCACAAAGTCTCCACTTAATTTGAGACTGTTACTC
CGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGAGCCGCTCGCGCCGCGGAAGAGCGGGGACCCCGAGAAGCTCGCGAAGAACCCCAAGAACCCGGCGCGGGAGGCGCTCCCCGAAAAGTTCCTAACAGACAAGGAGCGCAAGAAGCTCGAGAAGAAGCTGCTGGAGCAGAGGCGAAAGGAGGAGAAGAAGAAGGAGAAGGAGAGGAAGAAGATGGAGAAGATGCTGAAGAAGAAGAAGAAGAAGGTGCCAGAAGCCCAGGAGGAGGCCCGATGCCCCGAGGCCGCCGCCGCCGCGGCCGCCGCCGACGACGACGAGGGCGCCGAGGAGGGCGCCGTCGGGGGCGCCGAGGAGGGCGCCGCCGCCGGGGGCACGAGTAGGGCCTGGGCTGACTGGGACACGGACTCGAGCGACGAGGACGACGCCTACTACGCGGCGCCGCGCGTTGGGGGCATCGTGTGGCGGCCCGGGCCGCTCAAGGCTGGCGCGCTGAGCGCCCACCTGCCCCTCGTGGTGTTCCTGGTCTTCTCGGTGCGCAGCCCCTCGTGGGTGCTCAACTTCCTGCTGCAGAAGCGCACGGAGCAGGGCCGCGGCTGCGGCTTCGTGTTCGGGGCGACCTGCTGCTTCCGAGTGTTCCTGGGCTGCGCCTTCTTCTCCTACTTGGGCGGCCGCGCCAAGCGCAGAGGCCGCGGGCGCTCCGGGGCCAGAGGCGCCTTCGGCTCGGGCCATGGCGCCCGGCGCCGGGGGCGCGAGGAGCGGCTCATCTAGTCAGACCCCCCACCCCGCCACCGCCACCAGACACCACCATCGCTGTGTAGTGTGGGTTTTTATTCGTGTTCGTGTGTGTGTGTGGACACATTTTCCTTTTCGGTTGCTCTGTCCTTTGGTTCGTGCTCGCCTCGCTTTTTCCACACTCCTGCTCTCTGGCTCTCTGTGTCTCTCGCTCTTTCGAAAATTTTCCTAAGTCCGGGCGCGCGCTCCCTCCCCTTCCGCCCACCCCAGCCCCTCGGCGGCGCCCGCGGGAGGGGGAGGAGGCCTCGGGGGCGCCGGGCGACGCGGTCCGGGGGGTGGAGCGTTGGCGTCGTGCGAGGGGTCGTCACTGGCGCGGAGACGCCCCCTCTCCCCCCTCGGCTCAGCCGGGCTGCTGCCCGAGCCCGGGGGGTGGGGGGCGTCTCCCCGGCCCGTCCCGTCCCCGGCCGGGCGCGGGCGGAGGGACCCCCTCCCCGGGCTCCCGGGGGGCCGCCTCCCTCCGCCGGCTCCCGCCCTCCCAGCCGCCGCCGCCGCCGCGGCCGCTCCTCGGCCCTCCTCCTCCTCCTCCTCCTTCCACCCCCCTCGCCGCCGCCGCCTCCTCCTCCCCCCGCCTCCCCCCGCCCGCCGCGGCGCTTTTGGCTCGGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGCGGCGGCGGCGGCAGCGGCGGCAGCAGCTCCCGCAGCTCCTGCTCTGGTCCGCCTCGGCCCGGCGGCGGCCATCAGCCCCCTCGGCCTCGGCTCGAGGGGCGGGGAGCTGCGCGCGCCCCTCGGTCCGACCGACACCCTCCCCTTCCCGCCCGTCCGCGCGCCCCGCGGCCCGCGGCCCGCAGTCCGCCCCGCGCGCTCCTTGCCGAGGAGCCGAGCCCGCGCCCGGCCCGCCCGCCCGGCGCTGCCCCGGCCCTCCCGGCCCGCGTGAGGCCGCCCGCGCCCGCCGCCGCCGCAGCCCGGCCGCGCCCCGCCGCCGCCGCCGCCGCCATGGGCTGCCTCGGGAACAGTAAGACCGAGGACCAGCGCAACGAGGAGAAGGCGCAGCGTGAGGCCAACAAAAAGATCGAGAAGCAGCTGCAGAAGGACAAGCAGGTCTACCGGGCCACGCACCGCCTGCTGCTGCTGCTGGGTAAGGGCGGGCGGGGGGCGCCGGCCCCGGCCCGGGGGCCCTCGAAGGGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCCCGCCCCGGGCGCGCGCTCCCGAGCCCCCCGCCCGTTCGCGGGCTCTGTCTGTGGGGGGCGAGGCCGGAAGGGGGACCCAGGGGCGCGGATTCGGCCGGGCGGGGGCTCAAAAACGGGGCGGGGGGCCGTGGCGACGCGGGCGCGGGTCCCCCTCCCCCGGCCTGCCCGCTCAGTGTCTCTCTCTTGCTCTCGCTCTCGCTCTCCCCCTCTTTCTCTCTTTCTCTCTTTTTCCGCGAGGCCTACACGACGCCAGGGGTTTGGGTGCGTGTTGGGGAGGGGGAGGGGGAGCCCATGGGGCTCCGGAGACTGCGACAAAAAGAGGGTTTCGGGGACAGGAAACCGGGTGGCGGGTAGAGGGAGGGGGACCCGCCTCCGTGGGGTGTGAGATTTGTTGGGAGAGGGAAAGAGGGGAAGAAAGGGGCGAGGAGAGGAGGGGGTGACGCTGGGGGGCGCCGTGGTGGCGGAGGGGGCCTCGCCAAAGGGAGGCTTTGGCGGGGAGAAGTGGCCGAGGAGAGTGGGGGGGCTGGTGACATCAGCCCCTCGGAAAGGATCGGAGCGGTAAAGGTGGTGCAGTGGGGGGGAGGGGGCGCAAGGGAGTCGTGGCGCCGGAGTCGGGAGGGGGGCGGCGAGGGGAGGAGGGAGGGCGGTTGCCGCTGGGCGCGACTTGGTGCGTTTCGGGCAGGACCGACTGACTGTGTGTGCGCGGAGCAGACGTGTCCCGGGCCAGGCCGGGCCGTGGAAGGAGGAGAAGGAGAGTCAAATAAAATAAGACCACCCCCCAACACCAAAAAATGGATAGAGTTAGTACGAGAAGTGCCCAGTGAAGCCAAATGACACGTCATTTTACAGTGTGACCTTTTTTTCCCCTTCCAGACTTGCAGGCTTTTTCAAAAGCAGAGCGGAGAATTAATTGTAGCAGCTGCCCCCCCCACCCACCACGAGCAGCGCCCCCCCAACACTATTTTAATAAACCATTAAAAAAAACACATTTTCCTGCTGGCTGGCCACATTGAGAGTGCTTTGTGAAAAGAAAAAACAAAGACATTCACAAATCAGATAAAACTGGAGAATGACATTTGTCTGTAAATGGCTTCTTGGTCTGGAAATGGCGTGGTTTCTTTTTTTTTTTTTTTTTTTTTTTGTCCTCCTCAAGGTGGGAGGGGGGATTGAGAGTGCTCTAAGGAGACTTTTCCTCCAGGTGGGAAGAGATAAAAAGACATTAATTAGTTGTTTATCAAGTGACATTTAGTTGTTTGGTTTTGGGTTTTCTTTTTTTGATTGCGATTTTTCCTCTGATTAAAAAAATAATAATAAAATAAAAAAAGGTTAACTATAAGGAGATGGCCTTTCCTCCTTTTTTTTCTTAAGGTGCTGTTTTGGGGGAAAAAAATGTAATGAAATGACCAAAAGAATTACACAGCATTAATTAAAAATGGAAGTTTTCCACTTCCTTGATAATTTGGCTATCTGAATAAATTTGTGAATTTGCTAGGTTAAGACCTAGTTCGTGGTCACATTTCAACAAAACAGCTTGAGTATAAAGAAAATAATAAAAGGCTGTTCTTATTTATTTTCCTTTGGTGGCTTTTGGTTTGCTCTTTTTGCATAGGTCATGACTTTGTTCTCCTGGGTCCAGATTTATAAAAGCAGAAAATTACTAATTAAGTCAAAATAAGTGTCTTTGGTGTTTATGCATTTGCAATTTCAGTAATTAAATGGTACATGTGTTGCTGTCTTGTCTAAAACTTTTAAAGGCAGAATTATGCTGTTGGGATATTAGTATGCGTATAACTTGATTTCAAAGTATAAATCTGGAAAAGTCTAGAATCTTTTCTGTGAATGCTATCTCAGTACTACTTTAAGTCAAGTGTGATGCTAATGATATCTTAAAATTTCCAACACCTTTTGTGCAGTGATCACAAAGTCTCCACTTAATTTGAGACTGTTA
pathogenic
315,130