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
|
|---|---|---|---|---|---|
Evaluate if the mutation on chromosome 1 at position 201084991 in CACNA1S (calcium voltage-gated channel subunit alpha1 S) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Centronuclear_myopathy', 'Congenital_myopathy_18', 'Hypokalemic_periodic_paralysis,_type_1', 'Malignant_hyperthermia,_susceptibility_to,_5']
|
ATTGGGTATGTTGCTTTGCCACTTGAGGTCTCCGTTTTACCCCCGTGAAAGGAGCTGATTAGGTCATATAATCCAGCACTCATGGTCCATAATTTTTAGAAAAATGATGTCAATATCTAATTGACCTCTTCTGCACAACCTGTGGTGCCATTGGCTGATTTTGACATCAAGCCACAGCCACATGTGCCCTCCTCCCGGCTTCACTCCGTTCCGCCTCACCTTGCAAACGGGTCAGCCAGAGAGGCTGGTTGTGGTGCTCTGAGGCGATAGACAGGGTGTTGAGGGCAACGATGAGAATCACCAGCCAATAGAAGACCTTGGACTTCACGATGTCATGGCACTTCCAGCGAAAGATGCGGTTCCACTGCCTCCAATGTCGGCTGAGGGAGGGGACAGAGGATGGTCTACAGTGCTGTGCTGTTCTACGCCCCACCTGTCCAAGCTACCTTCAGACAAACTCCAGGCATGCGTAGCCTGACCACCCCACTTCCGCCAGCCACATGAGAGAAGCTCAGGGCATGAGCTAGGGAGCCAGACTGAGTAAAATCCTCCATCTTTCACAGAAGAGCGATAATGACACAAACCTCCGAGGCAATGGAATGAGAGGATGCACGCAAAATGCTTAGCACAAGTGCCTGGCAAGGAGCAGACGCTCCGTGTGGTTTAATTTTAGTTAAAGCAACTCTGAGATGCCACGTTTTGCCCCTTATCAAAGGCCACTCTTCAACAAATTAATAATATCTGGGGAGGGTGAGGGGAAATGAGCTTTGACAGTACAATCTTTTTGGGATGAATTGGCAGCACTTACCAAAATTTAAAGTCTATATGCTCTGTTTATTAATGTTTTATTATTTATTTATTTAGACAGGTCTTGCTAGGTTGCCCAGACTGGACTTGAACTCTTGTGCTCAAGTGACCCTCCCACCTCAGACTTCCGAGGAGCTGGGAGTAGCTATACCCTTTGACCCAGCAAGTCTATTTCTAGAGTTCCTTTGGCAGAAGTGGTCATACTCATCCACAACTGTTCCCTGCAGCACTGTTTGTATCGCCAAAGAGGGGAAAAATTAACTACATTATGGCATATTCATCCTGTGGAATGTTTTACATCCAAAGATACAAGAAGGAAAGTGAATCTGCTCCGAAAATTGCTCTCAATAGATAATTTTAAGTAAAAAAAGGTAAGTAACTAGATAATCCTTTATTGGATTATCCTTTAGTGTGTATTATATTCATTTATTTGACAAATATTTGGCAACACCTCATATGTGCTAGGCACTCTTCTAGTCCCTGTGGTGACAGTAGTTAACATAAACAACCCCATTATGTAAAAAATCAAAACAAAAACAAAAAAATCCTGGCACGTGTGTGTGTGTGCAAGACGGATGAAAGCACAGAAAAGATCTTAGAGGCTGCACATCTGTTACCATGGTTACCTCTTTGAAGGGCACTGGAGACCTTCATCTTTTCTTTGATGTATAGCTCTATTGTTTGATCTTTCAAAATCATAATTAAGTATGAATTTGTAAAAGGAAACAGCCAACCAAATAAACAAACCCTCCTCTTAAGACAATGGCGAGAGAGCGTGGAGTGTGCTCTTGCCTCCAGCCTCCTTCCTGAGGGGCTCCCGGTTTGTGCAGCCTCTGCTGTGTACACTTTCCCTCTTCCCTCGCAGAGGTTTCCAACATGAATGACCTCACCCAGCTCTGCCCTGATCAGGGTGAAGTAGCAGCAAGCATGCTCACTGCTCCTGGAGGCTCCCAGTGTCCTTCTTATGTGCTATATAAATAGGTCATCTGCTCAGGACCCCTCTGATCACACATTCCCCGAGGATCTGGTCCCTGCGGAGTCCCTCAGAGCAGGAACTGGCCCTATTTTCTTAAAAAGGCTGCCTTTCTAAAGGATTAGACAAGTGACTCTGAAACCACTGAGGGGAAGTAACTGGACTCTACCCTCATGTCTCAGGGAGCTGGGGGTTGGGGGTTCCTGGGGCAGTGGGCAGATACTCACATGAACTGGATGATTTTGTTCAAGCCTGCAATTTCATACAGGCTCTCTGTGTCAGAGCCACCTTCATCCAAAGACAGTTTTCCTGGAGACAGGAGAGAAAGAGTCAGCCAGCCTTCGGGGCCCCTCTGGGCTGGACACACCTGGACTGGGCACCCGAGACAAGGGCCCATTGACCAGAGACATCTGCAACAATGGGTCCTAGGTAGGCCTGGATTGCTTCGTGCTTTCCAGAGACTGAGAGTTCCAAGAGCTAAAGAGCCCACTTTATCTGCAGGGGAGGCGCTATGAGGATGGGCAGCAAGTACCTTTGGGAAGAGCTCTGGTCACACCTGGATCTTACCATTTTGAGCCATTTTGCTTTAGGCAAGTCACTCACCCTCAAAGGACTAATGTTGGACTTGCTCAGTGGGCCTGATTGCAAGGTATGACTCAGAGGTGGGAGTGAGAGAGTGGGGTGAGTGCTGACCACAGCCTTTGGGCCCAAACCTTCTCTGAAGTCCTCAACATCCATGACCTCGCCCTGCGTGATCCAGCTCATGTAGCCCCGAAGGTCCTCATCTAGTTGCTGCTTCTCCCGGAGCTTCTGGAAGGTTCCCCTGGACTTGGCCTTCTCCCGCTCCTTGGTGAATTCCCTGAAATGAGATGGGGGAGCCAGGAGAGGAGGAGAAGAGGGAACAGTGTCAAGGAAAGACTGAGCTTCCTGAGGACAGACAAGCCCATTCTGTGACTGGAGCGCTCCTTTTTCTGGCCCCGGGGTGTTGCCTGGGGTCCAGGTGCCCCTCAAGGTGGCTGAGAGACAGCCCCTCTCACTTCCTGCTCACCCGTCCCCACCCTCCAGGAACATCCTGGAGTACTCCTTGCCCCTTCCTCATTTCTTTCTTCTCATCCATCTCATTGTCTCCTGCCTTGTTTTGGGGTTCCCCTTGCACATTAGGGGTTAATGACAAGGCAGTCCATTGCCTAACTGAATCAGCCACGGAGCCTCAAATTGGCCATACTGCCCCAACCCTTCAAACTACCTTAGAAATTTAGTTTTGTACAGACCAAAGGCCTGGGGAAAATTCTCCTTGGACTCCAAGGAACCAGTTGGCATGGCTGGAAGAAAAGGACCCAAGGCTCCATGAGGGATCTTCAGGCCAGCAGAGGGCAGCCCTGGGCTATGACCACCTGCCCCGCAGGGCAGGAGGAAGAAGACAGCACAGGGGTAGTCTCTGAGGAGCTGCGCCTGGCAGCCAGGAGGGGTTGGCCCACAGGGCAGGTCGAGTTGCCCTGGTCAGGTGGGGTCCAGGGAGGGGCTCTTGACCAGTTTGTGCCATGGACCCTTTGAAAGTCCAGTTAAGCCTATGGATCTCTCTTCAGAATAATGTGAAATGCACAAAATAAAACCATAGCATGACAAAGAAGCCAGTTACAGCTAGGCTTCACTTAATGACTGGGATGCGTTCTGAGAAAGGCATTGTTAGGTGACTTCATCTCTGTGCAGACATCAAGAGCGTACTTGCACAAACCTAGATGGGAGAGCCGACTACACATCTAGGCTACATGGCATAGCCTATTGCTCCTAGCCTACAAACCTGGACAGCGTGTTACCATACTGCATACCGTAGGCGATTGTATCTGTGGATCTAAACATAGCTAAACATAGAGAAGGTACAGTAAAGATACAATCTTAGCGCACCACTGTTGTGGATGCAGCCCGTCATTGACTGAAATGTCATCATGCAGCACATGACTGTATGTTAAAATATAGTTATCCATACAAAAAAATTGTGATCAAGTAATACATTTGCTTTTTCATTAACTCATTAGCAAGATCTAGCTGCAGGTTTTATATCTATCATAATTTCAAAGTATGGAGTAGTTAGTGTAAATACTATTCGCAACAACTGTAATGTGACATGATTTCTATTAGGACAAGTCATAGGCCCTGCTAATAGCACTGTGGTTTGTTGCCTATGTTCATTACTAAAGGAAACACTAAATTTCAGTTACAATTGTGAAAAATAAAGATAAATGTTTCCTATGCAAGTTTACAGACTCCCAGAATTCTATCTATAGACTGCCTGGAAGGAAGCTTCTGGAATGGGAT
|
ATTGGGTATGTTGCTTTGCCACTTGAGGTCTCCGTTTTACCCCCGTGAAAGGAGCTGATTAGGTCATATAATCCAGCACTCATGGTCCATAATTTTTAGAAAAATGATGTCAATATCTAATTGACCTCTTCTGCACAACCTGTGGTGCCATTGGCTGATTTTGACATCAAGCCACAGCCACATGTGCCCTCCTCCCGGCTTCACTCCGTTCCGCCTCACCTTGCAAACGGGTCAGCCAGAGAGGCTGGTTGTGGTGCTCTGAGGCGATAGACAGGGTGTTGAGGGCAACGATGAGAATCACCAGCCAATAGAAGACCTTGGACTTCACGATGTCATGGCACTTCCAGCGAAAGATGCGGTTCCACTGCCTCCAATGTCGGCTGAGGGAGGGGACAGAGGATGGTCTACAGTGCTGTGCTGTTCTACGCCCCACCTGTCCAAGCTACCTTCAGACAAACTCCAGGCATGCGTAGCCTGACCACCCCACTTCCGCCAGCCACATGAGAGAAGCTCAGGGCATGAGCTAGGGAGCCAGACTGAGTAAAATCCTCCATCTTTCACAGAAGAGCGATAATGACACAAACCTCCGAGGCAATGGAATGAGAGGATGCACGCAAAATGCTTAGCACAAGTGCCTGGCAAGGAGCAGACGCTCCGTGTGGTTTAATTTTAGTTAAAGCAACTCTGAGATGCCACGTTTTGCCCCTTATCAAAGGCCACTCTTCAACAAATTAATAATATCTGGGGAGGGTGAGGGGAAATGAGCTTTGACAGTACAATCTTTTTGGGATGAATTGGCAGCACTTACCAAAATTTAAAGTCTATATGCTCTGTTTATTAATGTTTTATTATTTATTTATTTAGACAGGTCTTGCTAGGTTGCCCAGACTGGACTTGAACTCTTGTGCTCAAGTGACCCTCCCACCTCAGACTTCCGAGGAGCTGGGAGTAGCTATACCCTTTGACCCAGCAAGTCTATTTCTAGAGTTCCTTTGGCAGAAGTGGTCATACTCATCCACAACTGTTCCCTGCAGCACTGTTTGTATCGCCAAAGAGGGGAAAAATTAACTACATTATGGCATATTCATCCTGTGGAATGTTTTACATCCAAAGATACAAGAAGGAAAGTGAATCTGCTCCGAAAATTGCTCTCAATAGATAATTTTAAGTAAAAAAAGGTAAGTAACTAGATAATCCTTTATTGGATTATCCTTTAGTGTGTATTATATTCATTTATTTGACAAATATTTGGCAACACCTCATATGTGCTAGGCACTCTTCTAGTCCCTGTGGTGACAGTAGTTAACATAAACAACCCCATTATGTAAAAAATCAAAACAAAAACAAAAAAATCCTGGCACGTGTGTGTGTGTGCAAGACGGATGAAAGCACAGAAAAGATCTTAGAGGCTGCACATCTGTTACCATGGTTACCTCTTTGAAGGGCACTGGAGACCTTCATCTTTTCTTTGATGTATAGCTCTATTGTTTGATCTTTCAAAATCATAATTAAGTATGAATTTGTAAAAGGAAACAGCCAACCAAATAAACAAACCCTCCTCTTAAGACAATGGCGAGAGAGCGTGGAGTGTGCTCTTGCCTCCAGCCTCCTTCCTGAGGGGCTCCCGGTTTGTGCAGCCTCTGCTGTGTACACTTTCCCTCTTCCCTCGCAGAGGTTTCCAACATGAATGACCTCACCCAGCTCTGCCCTGATCAGGGTGAAGTAGCAGCAAGCATGCTCACTGCTCCTGGAGGCTCCCAGTGTCCTTCTTATGTGCTATATAAATAGGTCATCTGCTCAGGACCCCTCTGATCACACATTCCCCGAGGATCTGGTCCCTGCGGAGTCCCTCAGAGCAGGAACTGGCCCTATTTTCTTAAAAAGGCTGCCTTTCTAAAGGATTAGACAAGTGACTCTGAAACCACTGAGGGGAAGTAACTGGACTCTACCCTCATGTCTCAGGGAGCTGGGGGTTGGGGGTTCCTGGGGCAGTGGGCAGATACTCACATGAACTGGATGATTTTGTTCAAGCCTGCAATTTCATACAGGCTCTGTGTCAGAGCCACCTTCATCCAAAGACAGTTTTCCTGGAGACAGGAGAGAAAGAGTCAGCCAGCCTTCGGGGCCCCTCTGGGCTGGACACACCTGGACTGGGCACCCGAGACAAGGGCCCATTGACCAGAGACATCTGCAACAATGGGTCCTAGGTAGGCCTGGATTGCTTCGTGCTTTCCAGAGACTGAGAGTTCCAAGAGCTAAAGAGCCCACTTTATCTGCAGGGGAGGCGCTATGAGGATGGGCAGCAAGTACCTTTGGGAAGAGCTCTGGTCACACCTGGATCTTACCATTTTGAGCCATTTTGCTTTAGGCAAGTCACTCACCCTCAAAGGACTAATGTTGGACTTGCTCAGTGGGCCTGATTGCAAGGTATGACTCAGAGGTGGGAGTGAGAGAGTGGGGTGAGTGCTGACCACAGCCTTTGGGCCCAAACCTTCTCTGAAGTCCTCAACATCCATGACCTCGCCCTGCGTGATCCAGCTCATGTAGCCCCGAAGGTCCTCATCTAGTTGCTGCTTCTCCCGGAGCTTCTGGAAGGTTCCCCTGGACTTGGCCTTCTCCCGCTCCTTGGTGAATTCCCTGAAATGAGATGGGGGAGCCAGGAGAGGAGGAGAAGAGGGAACAGTGTCAAGGAAAGACTGAGCTTCCTGAGGACAGACAAGCCCATTCTGTGACTGGAGCGCTCCTTTTTCTGGCCCCGGGGTGTTGCCTGGGGTCCAGGTGCCCCTCAAGGTGGCTGAGAGACAGCCCCTCTCACTTCCTGCTCACCCGTCCCCACCCTCCAGGAACATCCTGGAGTACTCCTTGCCCCTTCCTCATTTCTTTCTTCTCATCCATCTCATTGTCTCCTGCCTTGTTTTGGGGTTCCCCTTGCACATTAGGGGTTAATGACAAGGCAGTCCATTGCCTAACTGAATCAGCCACGGAGCCTCAAATTGGCCATACTGCCCCAACCCTTCAAACTACCTTAGAAATTTAGTTTTGTACAGACCAAAGGCCTGGGGAAAATTCTCCTTGGACTCCAAGGAACCAGTTGGCATGGCTGGAAGAAAAGGACCCAAGGCTCCATGAGGGATCTTCAGGCCAGCAGAGGGCAGCCCTGGGCTATGACCACCTGCCCCGCAGGGCAGGAGGAAGAAGACAGCACAGGGGTAGTCTCTGAGGAGCTGCGCCTGGCAGCCAGGAGGGGTTGGCCCACAGGGCAGGTCGAGTTGCCCTGGTCAGGTGGGGTCCAGGGAGGGGCTCTTGACCAGTTTGTGCCATGGACCCTTTGAAAGTCCAGTTAAGCCTATGGATCTCTCTTCAGAATAATGTGAAATGCACAAAATAAAACCATAGCATGACAAAGAAGCCAGTTACAGCTAGGCTTCACTTAATGACTGGGATGCGTTCTGAGAAAGGCATTGTTAGGTGACTTCATCTCTGTGCAGACATCAAGAGCGTACTTGCACAAACCTAGATGGGAGAGCCGACTACACATCTAGGCTACATGGCATAGCCTATTGCTCCTAGCCTACAAACCTGGACAGCGTGTTACCATACTGCATACCGTAGGCGATTGTATCTGTGGATCTAAACATAGCTAAACATAGAGAAGGTACAGTAAAGATACAATCTTAGCGCACCACTGTTGTGGATGCAGCCCGTCATTGACTGAAATGTCATCATGCAGCACATGACTGTATGTTAAAATATAGTTATCCATACAAAAAAATTGTGATCAAGTAATACATTTGCTTTTTCATTAACTCATTAGCAAGATCTAGCTGCAGGTTTTATATCTATCATAATTTCAAAGTATGGAGTAGTTAGTGTAAATACTATTCGCAACAACTGTAATGTGACATGATTTCTATTAGGACAAGTCATAGGCCCTGCTAATAGCACTGTGGTTTGTTGCCTATGTTCATTACTAAAGGAAACACTAAATTTCAGTTACAATTGTGAAAAATAAAGATAAATGTTTCCTATGCAAGTTTACAGACTCCCAGAATTCTATCTATAGACTGCCTGGAAGGAAGCTTCTGGAATGGGATNN
|
pathogenic
| 20,349
|
Chromosome 1, position 201361970, gene TNNT2 (troponin T2, cardiac type): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Cardiomyopathy', 'Cardiomyopathy,_familial_restrictive,_3', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1D', 'Hypertrophic_cardiomyopathy_2', 'Primary_dilated_cardiomyopathy', 'TNNT2-related_disorder']
|
GAGAGTCCCATAAGAAGGGCCTCTGAGAGCTGGGCACAAAGCTGGAGGCTGTGTCATGGAGCCCTCCTAGCAGCCCAGCCCCAGACCCCTCTGGGGCACCCCTGCCCAGCTGCCCACCATCCCGGAAGCTGTGCCCTTTGAGCAGTAGCATCCCCATGCACCACCCCTGCAGGGTGCTGCCCCAAAGTTTGGCAAATCTGTGTCCTGTTGGCCGGTGCAGAGTTCAGTGTGGAACCAAAAAAAGAGAAAAAAGTGGAAGGCACAGGACTAGAGAGGCCATAACAATGGCTGACACCTGCTGAGCATTTAGTGGGTGCCAGGCTCTGTCCTGAGCACCTTCCCAGATATGAACCCATAGGGCTGCTATGAGGGCATAGTAAGTTAATACATGGGACATGCTTGGAACAGTGGTTGGAACACTATAGCAATAATAACAATTAGTATTATCTCTGTAACCCTCACAATCACCCTCTGAAGTATATTGTAGTGTTACCTGTGGAAATGGAGGCAAGGAACAGTGGACTAACTCACCCAATGTCACACAGCCAGTGAGGGGCACAGGTAGAAATTCAACCCAGGCATTATGGCTCCAAAGTCCATGCCACTGTCACCAGGCAATACAGCCTCTCTCCGTATTGGGAGGTGGGAGTACCCTGTAGCCACTGCAGCCTGAGCCTGCCCAGCGAGGGGCTTCTTGCCCAGGGAGGAGTGGTTTGGCAGGAGCAGCAAAGGAGACCTTCCAGGGGAAGCTGAATTCTTCCCTTAGGTAGCAAAGAGGCCCTGGGACCGGGGCTCGGGGGTGGTGGGTAAGGAAGGACTGGCGCCCAGGTCTAAGCTCCGGTATGCAGCATCAGTGTCCTCTAAGCCATTTCCTTGCCTGGTGTCTGTTCACCTAAGACCCTCATTAGTGCACATAGGACTCCGAAAGACTGTGAGCTTGAGGCTCAGCCTAATTGTGCCCACACCAGGACCTTGGGTGTATGTGGGGAGAAGCACCTCTCTGTTGGCAGCACTCCCCTTCCACTGGGGGTCCTGGCTTGGTGCATCCTGGTCCTTGTAACCAGCTCAGATCACTGAGCTGCTGCCTCAACGTGTTGGAGACCCCCAGGGTTGGAACACCAGGAAAGTGTCTCTGCTCAGCCCCAGCGAGCTCTCAGACACTTCCAGCAAGCAGTCGTCAATGCGGTGGACATGGAACACTGCTGAAGGCCAGGCAGCAGGGGCAGATGCAGGAGCTGAAGGGGGCTGTTGGGGAATAGGGACAGGGACCCAGGGACCTGCAGCAGTATTACCGGACCCAGTGAACCAGGAGGAGTGTGAGATGGAGATGCTGGGCGGGGACAGCATGGCGGCCCACCTCATATTTCTGCTGCTTGAACTTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAG
|
GAGAGTCCCATAAGAAGGGCCTCTGAGAGCTGGGCACAAAGCTGGAGGCTGTGTCATGGAGCCCTCCTAGCAGCCCAGCCCCAGACCCCTCTGGGGCACCCCTGCCCAGCTGCCCACCATCCCGGAAGCTGTGCCCTTTGAGCAGTAGCATCCCCATGCACCACCCCTGCAGGGTGCTGCCCCAAAGTTTGGCAAATCTGTGTCCTGTTGGCCGGTGCAGAGTTCAGTGTGGAACCAAAAAAAGAGAAAAAAGTGGAAGGCACAGGACTAGAGAGGCCATAACAATGGCTGACACCTGCTGAGCATTTAGTGGGTGCCAGGCTCTGTCCTGAGCACCTTCCCAGATATGAACCCATAGGGCTGCTATGAGGGCATAGTAAGTTAATACATGGGACATGCTTGGAACAGTGGTTGGAACACTATAGCAATAATAACAATTAGTATTATCTCTGTAACCCTCACAATCACCCTCTGAAGTATATTGTAGTGTTACCTGTGGAAATGGAGGCAAGGAACAGTGGACTAACTCACCCAATGTCACACAGCCAGTGAGGGGCACAGGTAGAAATTCAACCCAGGCATTATGGCTCCAAAGTCCATGCCACTGTCACCAGGCAATACAGCCTCTCTCCGTATTGGGAGGTGGGAGTACCCTGTAGCCACTGCAGCCTGAGCCTGCCCAGCGAGGGGCTTCTTGCCCAGGGAGGAGTGGTTTGGCAGGAGCAGCAAAGGAGACCTTCCAGGGGAAGCTGAATTCTTCCCTTAGGTAGCAAAGAGGCCCTGGGACCGGGGCTCGGGGGTGGTGGGTAAGGAAGGACTGGCGCCCAGGTCTAAGCTCCGGTATGCAGCATCAGTGTCCTCTAAGCCATTTCCTTGCCTGGTGTCTGTTCACCTAAGACCCTCATTAGTGCACATAGGACTCCGAAAGACTGTGAGCTTGAGGCTCAGCCTAATTGTGCCCACACCAGGACCTTGGGTGTATGTGGGGAGAAGCACCTCTCTGTTGGCAGCACTCCCCTTCCACTGGGGGTCCTGGCTTGGTGCATCCTGGTCCTTGTAACCAGCTCAGATCACTGAGCTGCTGCCTCAACGTGTTGGAGACCCCCAGGGTTGGAACACCAGGAAAGTGTCTCTGCTCAGCCCCAGCGAGCTCTCAGACACTTCCAGCAAGCAGTCGTCAATGCGGTGGACATGGAACACTGCTGAAGGCCAGGCAGCAGGGGCAGATGCAGGAGCTGAAGGGGGCTGTTGGGGAATAGGGACAGGGACCCAGGGACCTGCAGCAGTATTACCGGACCCAGTGAACCAGGAGGAGTGTGAGATGGAGATGCTGGGCGGGGACAGCATGGCGGCCCACCTCATATTTCTGCTGCTTGAACTTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGNNN
|
pathogenic
| 20,554
|
Benign or pathogenic: chromosome 1, position 201363376, gene TNNT2 (troponin T2, cardiac type) variant? Disease(s) if pathogenic?
|
pathogenic; ['Cardiomyopathy,_familial_restrictive,_3', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1D', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_2']
|
TCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCT
|
TCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTNNN
|
pathogenic
| 20,574
|
Assess the variant on chromosome 1, position 201364378, impacting TNNT2 (troponin T2, cardiac type): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
benign
|
CAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCC
|
CAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCNNN
|
benign
| 20,598
|
Is the genetic variant on chromosome 1, position 201364468, gene TNNT2 (troponin T2, cardiac type), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
benign
|
GGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCC
|
GGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCN
|
benign
| 20,602
|
Is the genetic mutation found on chromosome 1 at position 201369848, within the gene TNNT2 (troponin T2, cardiac type), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
TCATCTTCTAAATGAAACACGAGAAATCAATCAAGGTCCTTGTTCTGAGCTCAAGTCCCCCCCTCCGCCACCAGCAAGAGCCTTCCCCACAGATAAGCCCTAGCCAAGATGCACTCTGTTGGTTTTTGGGGTTACAGAGCTGTCTCTCACACACACATTCCCCTGGACCCAAGACTGCCTGACACAAGAGAAGCGCTGGGTCAACGTTTGTTGATTGGGCAATCAATGGTTGAATCTTAGTCAATAGGAGAGTCAGGTGCACATGGGAAAGCCTGTTCTGGGGGGTTTCTTACTGCCTCAGGAATGGCTCCAGGGGCTCTCGCCACCCCCTGAGGCCCCTGCACCCTCAACCAGAGACTTACCTTCTGCCCTGGTCTCCTCGGTCTCAGCCTCTGCTTCAGCATCCTCTTCCGCTGCCTCCTCCTGCTCTGGAGAAGTGAAGCAGACAGAGTGAAGAAGCAGGCCCCACTCATGCTATCAGGCAGAACCCAGAGCAGAGAATGGGCAGCGGGGAGTGGGGATGGGGGTCAAGACGTCTAGGTCCAGATGAATTTGGGGGCAACCAACGTGCTGGGGGGCTGCCATTCTTGGTTTTGACTGTCGGCTACCTCCCGCCACCCAGCTTAGCCCCACTCATCCCGGCAACCTCCCTGATGATGGGACTCCACCTCATTCCCCAACTTTCCAGCCCAGAAGTTCCACCCCGTGTCTGGCACCACAGAACATGCTCTGCTTAAGCCGAGGTGTCCAGAAGCTCCTGTCCTGAACCTAGTGACTCTAGACACCCTCAATCCACATCTCAAAGAAACCAAAAGAGTACGACTGTGTGGCTGGATGGCACACTCAATATCTGGATCTTCGTACTATCCAGAAAGTGGGCAGGATTTTTCTATTTTCATCTATTTGTTTGGCAGGATGTGGCCCCCATCTCACTCAGGCACTTGGTGTAGACAGACAGACAAACAGATAAGGGAGACAGGATGCCGCCTGGCCTGGGCTGTGCCTGTAGGAAGTGTTCTGTGATGCCTGTTCACTGATGCACTGGGAAGTGGGTGCCTCTTGGCAGAGGGAGAAGAAAAACCTCAGACAGGAGGAAGACACCATCGTGGGAGAAGGGTTGGCCTTCATTCCCTCTGTCCTCCCTTCCCAGGTCTGAGTCCTCTCTGAAGCCTGGAGATGCCTTTTATTTGATCCCTGCAGGAGTCTTACCTCAAAATGATCCTTCTAGAAAGTGTGAAAGCAGAGGGCTAGCGAGGAAGGACATGGCCATTGTGGGGTCTACCTTTAGGCCATCTTGTTCACACCTCTGCCACCTCATCTGACGTGTCATTTCTCTATATAATATACCCCAGCCCACCCAGTGGCCATGCAACATCCCAAGGATGGGGAGCTTACTGCCTCCCCAACCCACCTACTGCATCTTGAGATATAGCTGTCAGAACGCACTTTCTAAAATTAAGCCCTGGTCTCACTCCCTTGCCTTGGTCCTGTGCTCCCCATCAGCAGGGCGCATCTGAAGGCTGACGTCATGTCCTTCCTGCTCTGGCTATTTCCAGTCTCCCTGGCTGCTCTCCAGAGGACTCTGTCCCCAGACCCCCCAACCAACACCTGGCCACCCTGCTTGGTGCTGTCCAGCTCCTAAGGAGGGCCCAGCATGGAACACTGGGGTGTGCGCGGGGGCAGGGTGGCGCTGCTGTCTTCCAGGTGCCAGGTCCCCTCTATGGCCACATTTGGAGCAGCTTGGGAGACCAGCTAGCCTTGGTCCCTCCCACCACCCAACCCAGGGGAAGGATCCAGGAACCAGGAAGAGGAGCCAGTGGCCCTGAAGTTCAGGCATGATGATCAGCTTGGAACTGTGATCCTGGCCCCTGGGAGGCAGGGGAGGAAACGACTGACCCACTCCGTCCCTGCCGCCTACTCACACCCCCCAGCCCCCAGAACAGGGCCCCTGGACAAGGAGGCTGCACTTGGGACAGCAGGCAGCAGAAAGCACCACAGAAGGAAAGGCTGTACTACCGTCTTCGTCCTCTCTCCAGTCCTCCTCTTCTGAGGTTCAGGGAGTGGCCGCAGCGGAGGGGAAAAGCGAGACAGGTTAGTCTGGGAGCAGAGAGCCCGCGGCAGGAGCAGCCACCCAGCGCAGTGGTTTTAAGAGTGTGGGCTTTGGAGTTAGGCCGGCATTCCAATTCCCAAGCCACTACTTTCCAGCAACAGGGGCAACTCTCAGTTACTTCCCTGAGCCTCAGGTGCCTCATCAGTAAAATGGGAATCATTCTACTCACTTCTCAGCCGTGGTGAGGACTGAATGACCTAGCGTGCATAGAGCGCCCAGCAGGTGCCTGGCACAAGAGGAGCATGCGATCTGTGGTAACTGCAATGCCTCTAGACGACAGAGCCTTGGCCTCCTTCTTACTAAGACAGAGGCCCCTAAAGAGCAGAGAGTGGGGGACAATTCTCTTCCATCAAATTTCCTGCCCTCAACGAGCCTGCCCATGTTCCTGCTCTGAATGAGGCTCTTGGGTATCCTGCAAACTATGTCCAGTTTCCAGGAGTCACACTTTAGAAAGCCTCATTGGAGAGCCTGGCCCCAGGGGAGATTTGCCCGGCCTGTTGGGAGGATGCTGCCCCATCTAAGAAGGGTCCAGCATTATAAATCTAAGGAAAGAGGCTGCATCTACAACAGTTGTTCTACGTACAAATATCTGCCCAAAAAAACAGTTCCAGCAAGTGGAACAATTCCTCTCCTGGAAGAAGGACACCTGGCATTATCTATCCTGCAGGCTTAGTGGACACCCATCTAGACGTTGCTCTCTCTTGATCATTTGCAGCCAGATCCTCAACTGTGTGGGAGGCAAGTCTCGTCTATTCATGGCAAGCAAGGCAGATGCTACACGGCTCAGGCCCCAGCACAGTGGAGAATGACTCTGCTAACTCACAGCCAAATTCTACTGTGTGTGGCAGGCAGATTGGTCCCAAATCCAGAGATCTATGTCTCAAACTCCACCACCCTAAACCTGTTATAAGGAAGTGGAAAATCCTCCAAAACAAAGGAAGGGATATCATATCAAGAGTCTGTTCAGGGAACACAGCAGAATTTGGAGCCAGTTAGATTTTTTATTCAAAAATATATTTCTGATAGCTTCTGAAGTATCTGGTGTTCCTTAAAAACCAAAAAAGACGCCTGTGGCCTCTTTCAGTTTCTCCTGTGAATTTCTCTTCTGTCTCCTCTTTGGCCAGACAGCCCTGGAACAGCCCTAAATGTGCAGGAGGGTCCCCATTTTCCCTAGGAGCCATGGGGAGCAAGGGCGGGGCCACCTGGGCTCCCCCCTTGGACCTTCATAGAGACCCTTCTCCTAATATCTACATGCCACATGCTGAAGTGATACCTGAGCCACTAAAAGGCAGGGTCCACCTGCCTGGGGTGCAGGGGGAGGACTGGAGTGAAGCCTCTGAGTCATTTCCATGTGCCAAGCTCTCAGGAAGAAGGGAAGGTGAGGGCGTTCTTTCAGGGAGATGTGGGACCCACAGCTGAGGAGGGCGATGGGTTAACCGATCAGCATAGGAGCAGCAAGAGGGGCCTCTGCAAGCTCAGAATCATGACAAATCTTCATGCCGAGATAAGACGTCTCAGATCACTGAGCAATTTCATACTCACAATCGCATTTGAGAAATTACTAAATGGAATCTTTTGGGGCATATCATGGCATTGTGGTTATGGTTTTTAAGTAGTGCTTATCTCTTAGAGATACGGTGTAGCGAAATCTTGAAGCGTGAACTGACATGGTGCCTGGGAACAATTTTGGATGTCTGCTCCAAAATAACTGGTGGAAGGTGGAGTATAGAGGAAAGAAGACTGGCCCTAAGATGATGATTGTTGAAGCTGGTAATGGGTACCTTGGGCAGGGGGGGCCATTATTATTATTATTGCTACCTTTATGTGCATTTAAAATTTCCCATGATAAAAGGGAGAAGAAGCAAAAAAAATTGGGAAAAGTGATCAGTGTGTTTGAAGCAAATGGCAGACAGAAGAGACAGGTTTAAATCGTTTGCCTCAAGACCCGAGCAACCCAGGTAGGACTGATTCCCATTTTAGAAGGCA
|
TCATCTTCTAAATGAAACACGAGAAATCAATCAAGGTCCTTGTTCTGAGCTCAAGTCCCCCCCTCCGCCACCAGCAAGAGCCTTCCCCACAGATAAGCCCTAGCCAAGATGCACTCTGTTGGTTTTTGGGGTTACAGAGCTGTCTCTCACACACACATTCCCCTGGACCCAAGACTGCCTGACACAAGAGAAGCGCTGGGTCAACGTTTGTTGATTGGGCAATCAATGGTTGAATCTTAGTCAATAGGAGAGTCAGGTGCACATGGGAAAGCCTGTTCTGGGGGGTTTCTTACTGCCTCAGGAATGGCTCCAGGGGCTCTCGCCACCCCCTGAGGCCCCTGCACCCTCAACCAGAGACTTACCTTCTGCCCTGGTCTCCTCGGTCTCAGCCTCTGCTTCAGCATCCTCTTCCGCTGCCTCCTCCTGCTCTGGAGAAGTGAAGCAGACAGAGTGAAGAAGCAGGCCCCACTCATGCTATCAGGCAGAACCCAGAGCAGAGAATGGGCAGCGGGGAGTGGGGATGGGGGTCAAGACGTCTAGGTCCAGATGAATTTGGGGGCAACCAACGTGCTGGGGGGCTGCCATTCTTGGTTTTGACTGTCGGCTACCTCCCGCCACCCAGCTTAGCCCCACTCATCCCGGCAACCTCCCTGATGATGGGACTCCACCTCATTCCCCAACTTTCCAGCCCAGAAGTTCCACCCCGTGTCTGGCACCACAGAACATGCTCTGCTTAAGCCGAGGTGTCCAGAAGCTCCTGTCCTGAACCTAGTGACTCTAGACACCCTCAATCCACATCTCAAAGAAACCAAAAGAGTACGACTGTGTGGCTGGATGGCACACTCAATATCTGGATCTTCGTACTATCCAGAAAGTGGGCAGGATTTTTCTATTTTCATCTATTTGTTTGGCAGGATGTGGCCCCCATCTCACTCAGGCACTTGGTGTAGACAGACAGACAAACAGATAAGGGAGACAGGATGCCGCCTGGCCTGGGCTGTGCCTGTAGGAAGTGTTCTGTGATGCCTGTTCACTGATGCACTGGGAAGTGGGTGCCTCTTGGCAGAGGGAGAAGAAAAACCTCAGACAGGAGGAAGACACCATCGTGGGAGAAGGGTTGGCCTTCATTCCCTCTGTCCTCCCTTCCCAGGTCTGAGTCCTCTCTGAAGCCTGGAGATGCCTTTTATTTGATCCCTGCAGGAGTCTTACCTCAAAATGATCCTTCTAGAAAGTGTGAAAGCAGAGGGCTAGCGAGGAAGGACATGGCCATTGTGGGGTCTACCTTTAGGCCATCTTGTTCACACCTCTGCCACCTCATCTGACGTGTCATTTCTCTATATAATATACCCCAGCCCACCCAGTGGCCATGCAACATCCCAAGGATGGGGAGCTTACTGCCTCCCCAACCCACCTACTGCATCTTGAGATATAGCTGTCAGAACGCACTTTCTAAAATTAAGCCCTGGTCTCACTCCCTTGCCTTGGTCCTGTGCTCCCCATCAGCAGGGCGCATCTGAAGGCTGACGTCATGTCCTTCCTGCTCTGGCTATTTCCAGTCTCCCTGGCTGCTCTCCAGAGGACTCTGTCCCCAGACCCCCCAACCAACACCTGGCCACCCTGCTTGGTGCTGTCCAGCTCCTAAGGAGGGCCCAGCATGGAACACTGGGGTGTGCGCGGGGGCAGGGTGGCGCTGCTGTCTTCCAGGTGCCAGGTCCCCTCTATGGCCACATTTGGAGCAGCTTGGGAGACCAGCTAGCCTTGGTCCCTCCCACCACCCAACCCAGGGGAAGGATCCAGGAACCAGGAAGAGGAGCCAGTGGCCCTGAAGTTCAGGCATGATGATCAGCTTGGAACTGTGATCCTGGCCCCTGGGAGGCAGGGGAGGAAACGACTGACCCACTCCGTCCCTGCCGCCTACTCACACCCCCCAGCCCCCAGAACAGGGCCCCTGGACAAGGAGGCTGCACTTGGGACAGCAGGCAGCAGAAAGCACCACAGAAGGAAAGGCTGTACTACCGTCTTCGTCCTCTCTCCAGTCCTCCTCTTCTAAGTTCAGGGAGTGGCCGCAGCGGAGGGGAAAAGCGAGACAGGTTAGTCTGGGAGCAGAGAGCCCGCGGCAGGAGCAGCCACCCAGCGCAGTGGTTTTAAGAGTGTGGGCTTTGGAGTTAGGCCGGCATTCCAATTCCCAAGCCACTACTTTCCAGCAACAGGGGCAACTCTCAGTTACTTCCCTGAGCCTCAGGTGCCTCATCAGTAAAATGGGAATCATTCTACTCACTTCTCAGCCGTGGTGAGGACTGAATGACCTAGCGTGCATAGAGCGCCCAGCAGGTGCCTGGCACAAGAGGAGCATGCGATCTGTGGTAACTGCAATGCCTCTAGACGACAGAGCCTTGGCCTCCTTCTTACTAAGACAGAGGCCCCTAAAGAGCAGAGAGTGGGGGACAATTCTCTTCCATCAAATTTCCTGCCCTCAACGAGCCTGCCCATGTTCCTGCTCTGAATGAGGCTCTTGGGTATCCTGCAAACTATGTCCAGTTTCCAGGAGTCACACTTTAGAAAGCCTCATTGGAGAGCCTGGCCCCAGGGGAGATTTGCCCGGCCTGTTGGGAGGATGCTGCCCCATCTAAGAAGGGTCCAGCATTATAAATCTAAGGAAAGAGGCTGCATCTACAACAGTTGTTCTACGTACAAATATCTGCCCAAAAAAACAGTTCCAGCAAGTGGAACAATTCCTCTCCTGGAAGAAGGACACCTGGCATTATCTATCCTGCAGGCTTAGTGGACACCCATCTAGACGTTGCTCTCTCTTGATCATTTGCAGCCAGATCCTCAACTGTGTGGGAGGCAAGTCTCGTCTATTCATGGCAAGCAAGGCAGATGCTACACGGCTCAGGCCCCAGCACAGTGGAGAATGACTCTGCTAACTCACAGCCAAATTCTACTGTGTGTGGCAGGCAGATTGGTCCCAAATCCAGAGATCTATGTCTCAAACTCCACCACCCTAAACCTGTTATAAGGAAGTGGAAAATCCTCCAAAACAAAGGAAGGGATATCATATCAAGAGTCTGTTCAGGGAACACAGCAGAATTTGGAGCCAGTTAGATTTTTTATTCAAAAATATATTTCTGATAGCTTCTGAAGTATCTGGTGTTCCTTAAAAACCAAAAAAGACGCCTGTGGCCTCTTTCAGTTTCTCCTGTGAATTTCTCTTCTGTCTCCTCTTTGGCCAGACAGCCCTGGAACAGCCCTAAATGTGCAGGAGGGTCCCCATTTTCCCTAGGAGCCATGGGGAGCAAGGGCGGGGCCACCTGGGCTCCCCCCTTGGACCTTCATAGAGACCCTTCTCCTAATATCTACATGCCACATGCTGAAGTGATACCTGAGCCACTAAAAGGCAGGGTCCACCTGCCTGGGGTGCAGGGGGAGGACTGGAGTGAAGCCTCTGAGTCATTTCCATGTGCCAAGCTCTCAGGAAGAAGGGAAGGTGAGGGCGTTCTTTCAGGGAGATGTGGGACCCACAGCTGAGGAGGGCGATGGGTTAACCGATCAGCATAGGAGCAGCAAGAGGGGCCTCTGCAAGCTCAGAATCATGACAAATCTTCATGCCGAGATAAGACGTCTCAGATCACTGAGCAATTTCATACTCACAATCGCATTTGAGAAATTACTAAATGGAATCTTTTGGGGCATATCATGGCATTGTGGTTATGGTTTTTAAGTAGTGCTTATCTCTTAGAGATACGGTGTAGCGAAATCTTGAAGCGTGAACTGACATGGTGCCTGGGAACAATTTTGGATGTCTGCTCCAAAATAACTGGTGGAAGGTGGAGTATAGAGGAAAGAAGACTGGCCCTAAGATGATGATTGTTGAAGCTGGTAATGGGTACCTTGGGCAGGGGGGGCCATTATTATTATTATTGCTACCTTTATGTGCATTTAAAATTTCCCATGATAAAAGGGAGAAGAAGCAAAAAAAATTGGGAAAAGTGATCAGTGTGTTTGAAGCAAATGGCAGACAGAAGAGACAGGTTTAAATCGTTTGCCTCAAGACCCGAGCAACCCAGGTAGGACTGATTCCCATTTTAGAAGGCAN
|
benign
| 20,671
|
Located at chromosome 1 position 201372047, the variant affecting gene TNNT2 (troponin T2, cardiac type)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
benign
|
TTCCAGCAACAGGGGCAACTCTCAGTTACTTCCCTGAGCCTCAGGTGCCTCATCAGTAAAATGGGAATCATTCTACTCACTTCTCAGCCGTGGTGAGGACTGAATGACCTAGCGTGCATAGAGCGCCCAGCAGGTGCCTGGCACAAGAGGAGCATGCGATCTGTGGTAACTGCAATGCCTCTAGACGACAGAGCCTTGGCCTCCTTCTTACTAAGACAGAGGCCCCTAAAGAGCAGAGAGTGGGGGACAATTCTCTTCCATCAAATTTCCTGCCCTCAACGAGCCTGCCCATGTTCCTGCTCTGAATGAGGCTCTTGGGTATCCTGCAAACTATGTCCAGTTTCCAGGAGTCACACTTTAGAAAGCCTCATTGGAGAGCCTGGCCCCAGGGGAGATTTGCCCGGCCTGTTGGGAGGATGCTGCCCCATCTAAGAAGGGTCCAGCATTATAAATCTAAGGAAAGAGGCTGCATCTACAACAGTTGTTCTACGTACAAATATCTGCCCAAAAAAACAGTTCCAGCAAGTGGAACAATTCCTCTCCTGGAAGAAGGACACCTGGCATTATCTATCCTGCAGGCTTAGTGGACACCCATCTAGACGTTGCTCTCTCTTGATCATTTGCAGCCAGATCCTCAACTGTGTGGGAGGCAAGTCTCGTCTATTCATGGCAAGCAAGGCAGATGCTACACGGCTCAGGCCCCAGCACAGTGGAGAATGACTCTGCTAACTCACAGCCAAATTCTACTGTGTGTGGCAGGCAGATTGGTCCCAAATCCAGAGATCTATGTCTCAAACTCCACCACCCTAAACCTGTTATAAGGAAGTGGAAAATCCTCCAAAACAAAGGAAGGGATATCATATCAAGAGTCTGTTCAGGGAACACAGCAGAATTTGGAGCCAGTTAGATTTTTTATTCAAAAATATATTTCTGATAGCTTCTGAAGTATCTGGTGTTCCTTAAAAACCAAAAAAGACGCCTGTGGCCTCTTTCAGTTTCTCCTGTGAATTTCTCTTCTGTCTCCTCTTTGGCCAGACAGCCCTGGAACAGCCCTAAATGTGCAGGAGGGTCCCCATTTTCCCTAGGAGCCATGGGGAGCAAGGGCGGGGCCACCTGGGCTCCCCCCTTGGACCTTCATAGAGACCCTTCTCCTAATATCTACATGCCACATGCTGAAGTGATACCTGAGCCACTAAAAGGCAGGGTCCACCTGCCTGGGGTGCAGGGGGAGGACTGGAGTGAAGCCTCTGAGTCATTTCCATGTGCCAAGCTCTCAGGAAGAAGGGAAGGTGAGGGCGTTCTTTCAGGGAGATGTGGGACCCACAGCTGAGGAGGGCGATGGGTTAACCGATCAGCATAGGAGCAGCAAGAGGGGCCTCTGCAAGCTCAGAATCATGACAAATCTTCATGCCGAGATAAGACGTCTCAGATCACTGAGCAATTTCATACTCACAATCGCATTTGAGAAATTACTAAATGGAATCTTTTGGGGCATATCATGGCATTGTGGTTATGGTTTTTAAGTAGTGCTTATCTCTTAGAGATACGGTGTAGCGAAATCTTGAAGCGTGAACTGACATGGTGCCTGGGAACAATTTTGGATGTCTGCTCCAAAATAACTGGTGGAAGGTGGAGTATAGAGGAAAGAAGACTGGCCCTAAGATGATGATTGTTGAAGCTGGTAATGGGTACCTTGGGCAGGGGGGGCCATTATTATTATTATTGCTACCTTTATGTGCATTTAAAATTTCCCATGATAAAAGGGAGAAGAAGCAAAAAAAATTGGGAAAAGTGATCAGTGTGTTTGAAGCAAATGGCAGACAGAAGAGACAGGTTTAAATCGTTTGCCTCAAGACCCGAGCAACCCAGGTAGGACTGATTCCCATTTTAGAAGGCACTGTTGTTGGAGGATCTTGCTCAGCTGAGAGTGAGGAGCAGGGACAGATGAGCTGCTTTCCCAGGGCTCCCAGGATTTCCACATTGCTGAGCCTGCCCCTTTCTGGCTCTCCACCTGCCTGAGGCACATACCTTCAACAGCTGCTTCTGCTCAGAAGAGAAGTCCAGGCAGCAAGAGAAGAGAGAAGAGGTGGGTCAGTTTCGAACCAGGCTGTCTTTGATCCAAATGAGTACACACGTTTACGCTTACCTTCCTGCTCCCTGAGAGCAACAGGAAACACTGTCAGTAGCTCGCACACAAGCACATGCAAACACACACGCCTGCACACACATGCACACACTGGCCTTTCCCCAAAGATAATCCCCCTTTCTTTTCCCTTGTTGCCTAGTGGAGTCCACGCTGCCCTGCCCACCTTGCAATGACACCCACTAGCCTGGCCTGCCGTTCTCATGCAGGGCTGCCTCCTACCATCCTCCGCAAGCCTCCGCCCCAGCCAGCTTGGTCTCACCAGCGTTCTGCTCACTTACTCTTTCCATCTTTGCCCAAGCTGTACCCCTTTCTAGAAAGTCCTGCCCTCTCCCAAATCTCTTATCTTTCCAAATTCTACACAGGTAAGACCTGCCTTCTCCACACAGCCCCCTGACTATTCCAGCCCCTGATCTCCCTCTCCTCAGAACTCCTACACTACCAACAGCCCGCCCTCCACACCAGGCCCCCAGTTGCTAATTTCTTCTCCCAGTTTATGTCTTAACATCTCAACAAGAGTAAGTTCTGTGAGGGCAGTAGCCGTGCCTATACCTCTGTCTCCTCCCTGGTGACCACTATCCTCTGTAGTTATTGGATTGGCTGTGTCCCACCCCCTGGTTTCCCTCTGGGATAGGACTGTGGGCAGGGCACTGTCATGAGAGAGTAGGGATCCAAGACAGGGTGATAACACTGGGTTCTGAGCTGGGGTTTGGGGGGCATAATCAGCTCTGTGCCTCTGGAGAGTCACTGAACCTTCCTCAGTCAGTTTCAGGAGACCCAACATCTCAGCTTCTCTGTTCATGGCCCCTAGCCAAGACTGGCCAAGGACACTGATGACCCTGGAGCTGAACCTCTGTGCTTCCCGAAGTCTCTCGGCCTGTGCTCTGCCTGGGATCTACAACCCAGGGGTACAGGAGTGGAAAGGAAATGGCTATATCTCTCCTCGGGGTGCCCAAAACACACACAGCTACTTCTACCCAGAATCCGAGGGACAGCTGGGAGGCTCCTGGACCAGGTGTCAGGGCAGCGGCGGGAGAGGACCCCACTCAGGCAAGATGCTCCAGATACTCACTCCTCCTCGTACTCTTCCACCACCTCTTCTATGTCAGACATGGTCTCTGCTCTCCCTCCAAAAGGAGAAAAAAGTCAGTGCAGGTACAAAGGGAAGCCTGCCTTCCTCAGAAGAGCTCTGGCCCCCGTTGTACAGAGATCAGCGAGGCCTAGGGTGAATCTAGTTCCACCCCTCATGAGCTGTGTGACCTGCAACAAAAAGCCTGTTTTCTCCCCTGCTGGGGGAGATAGTGACACCCACATGGCAGCAAGGCCACCTGCTGATGTCCACTTCGTTCCTTGCCCCTGAACAGGCAATACTGCCTGGGATGCTGCATTTCCATTTGTGACACTCAAGACAATGTCTGCAGTTTCTCAACCTTTCCATCCACTCTGCCCACCCCCACTCCACAGGATCTGTTCAGCACTGTACAAATCTTCACTGCACAAAGCCTCACTGCAGCCTCAACCTTCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCTGAGTTGCTGGGACTATAGTTGTGCACCACCATGCCCGACTAATTTTTGTATTTTTAGTAAAGCTGGGATTTTGCCACATTGCCCAGGCTGTTTCGAACTCCCAGGCTCAAGGGATCCTCCTGCCTCAGCCTCTCGAAGTGCTGAGATTACAGGCGTGAGCCACCACACCCATTCCATGTGTGCTGGACAAAAGTGAGACCTGGACAAAAGGTCTTTGGGCACCCCAAGAGACTGGCCTGGACAAATGAGTGAGAACTTGTCTCTAAATAAATAAATCAAAGCACACAGCGGGGATCCTTGTGGTTTGGGATCTTTTCAGTATGTAGACTGTGGTGATGGATACGTGAACCTCCACAGGTTAAAGTTGTTTAGAGTTTCACATACACATGGTGCAAT
|
TTCCAGCAACAGGGGCAACTCTCAGTTACTTCCCTGAGCCTCAGGTGCCTCATCAGTAAAATGGGAATCATTCTACTCACTTCTCAGCCGTGGTGAGGACTGAATGACCTAGCGTGCATAGAGCGCCCAGCAGGTGCCTGGCACAAGAGGAGCATGCGATCTGTGGTAACTGCAATGCCTCTAGACGACAGAGCCTTGGCCTCCTTCTTACTAAGACAGAGGCCCCTAAAGAGCAGAGAGTGGGGGACAATTCTCTTCCATCAAATTTCCTGCCCTCAACGAGCCTGCCCATGTTCCTGCTCTGAATGAGGCTCTTGGGTATCCTGCAAACTATGTCCAGTTTCCAGGAGTCACACTTTAGAAAGCCTCATTGGAGAGCCTGGCCCCAGGGGAGATTTGCCCGGCCTGTTGGGAGGATGCTGCCCCATCTAAGAAGGGTCCAGCATTATAAATCTAAGGAAAGAGGCTGCATCTACAACAGTTGTTCTACGTACAAATATCTGCCCAAAAAAACAGTTCCAGCAAGTGGAACAATTCCTCTCCTGGAAGAAGGACACCTGGCATTATCTATCCTGCAGGCTTAGTGGACACCCATCTAGACGTTGCTCTCTCTTGATCATTTGCAGCCAGATCCTCAACTGTGTGGGAGGCAAGTCTCGTCTATTCATGGCAAGCAAGGCAGATGCTACACGGCTCAGGCCCCAGCACAGTGGAGAATGACTCTGCTAACTCACAGCCAAATTCTACTGTGTGTGGCAGGCAGATTGGTCCCAAATCCAGAGATCTATGTCTCAAACTCCACCACCCTAAACCTGTTATAAGGAAGTGGAAAATCCTCCAAAACAAAGGAAGGGATATCATATCAAGAGTCTGTTCAGGGAACACAGCAGAATTTGGAGCCAGTTAGATTTTTTATTCAAAAATATATTTCTGATAGCTTCTGAAGTATCTGGTGTTCCTTAAAAACCAAAAAAGACGCCTGTGGCCTCTTTCAGTTTCTCCTGTGAATTTCTCTTCTGTCTCCTCTTTGGCCAGACAGCCCTGGAACAGCCCTAAATGTGCAGGAGGGTCCCCATTTTCCCTAGGAGCCATGGGGAGCAAGGGCGGGGCCACCTGGGCTCCCCCCTTGGACCTTCATAGAGACCCTTCTCCTAATATCTACATGCCACATGCTGAAGTGATACCTGAGCCACTAAAAGGCAGGGTCCACCTGCCTGGGGTGCAGGGGGAGGACTGGAGTGAAGCCTCTGAGTCATTTCCATGTGCCAAGCTCTCAGGAAGAAGGGAAGGTGAGGGCGTTCTTTCAGGGAGATGTGGGACCCACAGCTGAGGAGGGCGATGGGTTAACCGATCAGCATAGGAGCAGCAAGAGGGGCCTCTGCAAGCTCAGAATCATGACAAATCTTCATGCCGAGATAAGACGTCTCAGATCACTGAGCAATTTCATACTCACAATCGCATTTGAGAAATTACTAAATGGAATCTTTTGGGGCATATCATGGCATTGTGGTTATGGTTTTTAAGTAGTGCTTATCTCTTAGAGATACGGTGTAGCGAAATCTTGAAGCGTGAACTGACATGGTGCCTGGGAACAATTTTGGATGTCTGCTCCAAAATAACTGGTGGAAGGTGGAGTATAGAGGAAAGAAGACTGGCCCTAAGATGATGATTGTTGAAGCTGGTAATGGGTACCTTGGGCAGGGGGGGCCATTATTATTATTATTGCTACCTTTATGTGCATTTAAAATTTCCCATGATAAAAGGGAGAAGAAGCAAAAAAAATTGGGAAAAGTGATCAGTGTGTTTGAAGCAAATGGCAGACAGAAGAGACAGGTTTAAATCGTTTGCCTCAAGACCCGAGCAACCCAGGTAGGACTGATTCCCATTTTAGAAGGCACTGTTGTTGGAGGATCTTGCTCAGCTGAGAGTGAGGAGCAGGGACAGATGAGCTGCTTTCCCAGGGCTCCCAGGATTTCCACATTGCTGAGCCTGCCCCTTTCTGGCTCTCCACCTGCCTGAGGCACATACCTTCAACAGCTGCTTCTGCTCAGAAGTCCAGGCAGCAAGAGAAGAGAGAAGAGGTGGGTCAGTTTCGAACCAGGCTGTCTTTGATCCAAATGAGTACACACGTTTACGCTTACCTTCCTGCTCCCTGAGAGCAACAGGAAACACTGTCAGTAGCTCGCACACAAGCACATGCAAACACACACGCCTGCACACACATGCACACACTGGCCTTTCCCCAAAGATAATCCCCCTTTCTTTTCCCTTGTTGCCTAGTGGAGTCCACGCTGCCCTGCCCACCTTGCAATGACACCCACTAGCCTGGCCTGCCGTTCTCATGCAGGGCTGCCTCCTACCATCCTCCGCAAGCCTCCGCCCCAGCCAGCTTGGTCTCACCAGCGTTCTGCTCACTTACTCTTTCCATCTTTGCCCAAGCTGTACCCCTTTCTAGAAAGTCCTGCCCTCTCCCAAATCTCTTATCTTTCCAAATTCTACACAGGTAAGACCTGCCTTCTCCACACAGCCCCCTGACTATTCCAGCCCCTGATCTCCCTCTCCTCAGAACTCCTACACTACCAACAGCCCGCCCTCCACACCAGGCCCCCAGTTGCTAATTTCTTCTCCCAGTTTATGTCTTAACATCTCAACAAGAGTAAGTTCTGTGAGGGCAGTAGCCGTGCCTATACCTCTGTCTCCTCCCTGGTGACCACTATCCTCTGTAGTTATTGGATTGGCTGTGTCCCACCCCCTGGTTTCCCTCTGGGATAGGACTGTGGGCAGGGCACTGTCATGAGAGAGTAGGGATCCAAGACAGGGTGATAACACTGGGTTCTGAGCTGGGGTTTGGGGGGCATAATCAGCTCTGTGCCTCTGGAGAGTCACTGAACCTTCCTCAGTCAGTTTCAGGAGACCCAACATCTCAGCTTCTCTGTTCATGGCCCCTAGCCAAGACTGGCCAAGGACACTGATGACCCTGGAGCTGAACCTCTGTGCTTCCCGAAGTCTCTCGGCCTGTGCTCTGCCTGGGATCTACAACCCAGGGGTACAGGAGTGGAAAGGAAATGGCTATATCTCTCCTCGGGGTGCCCAAAACACACACAGCTACTTCTACCCAGAATCCGAGGGACAGCTGGGAGGCTCCTGGACCAGGTGTCAGGGCAGCGGCGGGAGAGGACCCCACTCAGGCAAGATGCTCCAGATACTCACTCCTCCTCGTACTCTTCCACCACCTCTTCTATGTCAGACATGGTCTCTGCTCTCCCTCCAAAAGGAGAAAAAAGTCAGTGCAGGTACAAAGGGAAGCCTGCCTTCCTCAGAAGAGCTCTGGCCCCCGTTGTACAGAGATCAGCGAGGCCTAGGGTGAATCTAGTTCCACCCCTCATGAGCTGTGTGACCTGCAACAAAAAGCCTGTTTTCTCCCCTGCTGGGGGAGATAGTGACACCCACATGGCAGCAAGGCCACCTGCTGATGTCCACTTCGTTCCTTGCCCCTGAACAGGCAATACTGCCTGGGATGCTGCATTTCCATTTGTGACACTCAAGACAATGTCTGCAGTTTCTCAACCTTTCCATCCACTCTGCCCACCCCCACTCCACAGGATCTGTTCAGCACTGTACAAATCTTCACTGCACAAAGCCTCACTGCAGCCTCAACCTTCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCTGAGTTGCTGGGACTATAGTTGTGCACCACCATGCCCGACTAATTTTTGTATTTTTAGTAAAGCTGGGATTTTGCCACATTGCCCAGGCTGTTTCGAACTCCCAGGCTCAAGGGATCCTCCTGCCTCAGCCTCTCGAAGTGCTGAGATTACAGGCGTGAGCCACCACACCCATTCCATGTGTGCTGGACAAAAGTGAGACCTGGACAAAAGGTCTTTGGGCACCCCAAGAGACTGGCCTGGACAAATGAGTGAGAACTTGTCTCTAAATAAATAAATCAAAGCACACAGCGGGGATCCTTGTGGTTTGGGATCTTTTCAGTATGTAGACTGTGGTGATGGATACGTGAACCTCCACAGGTTAAAGTTGTTTAGAGTTTCACATACACATGGTGCAATNNNNN
|
benign
| 20,679
|
Regarding the variant found on chromosome 1 at position 201373207 in gene TNNT2 (troponin T2, cardiac type): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
benign
|
ACATGCCACATGCTGAAGTGATACCTGAGCCACTAAAAGGCAGGGTCCACCTGCCTGGGGTGCAGGGGGAGGACTGGAGTGAAGCCTCTGAGTCATTTCCATGTGCCAAGCTCTCAGGAAGAAGGGAAGGTGAGGGCGTTCTTTCAGGGAGATGTGGGACCCACAGCTGAGGAGGGCGATGGGTTAACCGATCAGCATAGGAGCAGCAAGAGGGGCCTCTGCAAGCTCAGAATCATGACAAATCTTCATGCCGAGATAAGACGTCTCAGATCACTGAGCAATTTCATACTCACAATCGCATTTGAGAAATTACTAAATGGAATCTTTTGGGGCATATCATGGCATTGTGGTTATGGTTTTTAAGTAGTGCTTATCTCTTAGAGATACGGTGTAGCGAAATCTTGAAGCGTGAACTGACATGGTGCCTGGGAACAATTTTGGATGTCTGCTCCAAAATAACTGGTGGAAGGTGGAGTATAGAGGAAAGAAGACTGGCCCTAAGATGATGATTGTTGAAGCTGGTAATGGGTACCTTGGGCAGGGGGGGCCATTATTATTATTATTGCTACCTTTATGTGCATTTAAAATTTCCCATGATAAAAGGGAGAAGAAGCAAAAAAAATTGGGAAAAGTGATCAGTGTGTTTGAAGCAAATGGCAGACAGAAGAGACAGGTTTAAATCGTTTGCCTCAAGACCCGAGCAACCCAGGTAGGACTGATTCCCATTTTAGAAGGCACTGTTGTTGGAGGATCTTGCTCAGCTGAGAGTGAGGAGCAGGGACAGATGAGCTGCTTTCCCAGGGCTCCCAGGATTTCCACATTGCTGAGCCTGCCCCTTTCTGGCTCTCCACCTGCCTGAGGCACATACCTTCAACAGCTGCTTCTGCTCAGAAGAGAAGTCCAGGCAGCAAGAGAAGAGAGAAGAGGTGGGTCAGTTTCGAACCAGGCTGTCTTTGATCCAAATGAGTACACACGTTTACGCTTACCTTCCTGCTCCCTGAGAGCAACAGGAAACACTGTCAGTAGCTCGCACACAAGCACATGCAAACACACACGCCTGCACACACATGCACACACTGGCCTTTCCCCAAAGATAATCCCCCTTTCTTTTCCCTTGTTGCCTAGTGGAGTCCACGCTGCCCTGCCCACCTTGCAATGACACCCACTAGCCTGGCCTGCCGTTCTCATGCAGGGCTGCCTCCTACCATCCTCCGCAAGCCTCCGCCCCAGCCAGCTTGGTCTCACCAGCGTTCTGCTCACTTACTCTTTCCATCTTTGCCCAAGCTGTACCCCTTTCTAGAAAGTCCTGCCCTCTCCCAAATCTCTTATCTTTCCAAATTCTACACAGGTAAGACCTGCCTTCTCCACACAGCCCCCTGACTATTCCAGCCCCTGATCTCCCTCTCCTCAGAACTCCTACACTACCAACAGCCCGCCCTCCACACCAGGCCCCCAGTTGCTAATTTCTTCTCCCAGTTTATGTCTTAACATCTCAACAAGAGTAAGTTCTGTGAGGGCAGTAGCCGTGCCTATACCTCTGTCTCCTCCCTGGTGACCACTATCCTCTGTAGTTATTGGATTGGCTGTGTCCCACCCCCTGGTTTCCCTCTGGGATAGGACTGTGGGCAGGGCACTGTCATGAGAGAGTAGGGATCCAAGACAGGGTGATAACACTGGGTTCTGAGCTGGGGTTTGGGGGGCATAATCAGCTCTGTGCCTCTGGAGAGTCACTGAACCTTCCTCAGTCAGTTTCAGGAGACCCAACATCTCAGCTTCTCTGTTCATGGCCCCTAGCCAAGACTGGCCAAGGACACTGATGACCCTGGAGCTGAACCTCTGTGCTTCCCGAAGTCTCTCGGCCTGTGCTCTGCCTGGGATCTACAACCCAGGGGTACAGGAGTGGAAAGGAAATGGCTATATCTCTCCTCGGGGTGCCCAAAACACACACAGCTACTTCTACCCAGAATCCGAGGGACAGCTGGGAGGCTCCTGGACCAGGTGTCAGGGCAGCGGCGGGAGAGGACCCCACTCAGGCAAGATGCTCCAGATACTCACTCCTCCTCGTACTCTTCCACCACCTCTTCTATGTCAGACATGGTCTCTGCTCTCCCTCCAAAAGGAGAAAAAAGTCAGTGCAGGTACAAAGGGAAGCCTGCCTTCCTCAGAAGAGCTCTGGCCCCCGTTGTACAGAGATCAGCGAGGCCTAGGGTGAATCTAGTTCCACCCCTCATGAGCTGTGTGACCTGCAACAAAAAGCCTGTTTTCTCCCCTGCTGGGGGAGATAGTGACACCCACATGGCAGCAAGGCCACCTGCTGATGTCCACTTCGTTCCTTGCCCCTGAACAGGCAATACTGCCTGGGATGCTGCATTTCCATTTGTGACACTCAAGACAATGTCTGCAGTTTCTCAACCTTTCCATCCACTCTGCCCACCCCCACTCCACAGGATCTGTTCAGCACTGTACAAATCTTCACTGCACAAAGCCTCACTGCAGCCTCAACCTTCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCTGAGTTGCTGGGACTATAGTTGTGCACCACCATGCCCGACTAATTTTTGTATTTTTAGTAAAGCTGGGATTTTGCCACATTGCCCAGGCTGTTTCGAACTCCCAGGCTCAAGGGATCCTCCTGCCTCAGCCTCTCGAAGTGCTGAGATTACAGGCGTGAGCCACCACACCCATTCCATGTGTGCTGGACAAAAGTGAGACCTGGACAAAAGGTCTTTGGGCACCCCAAGAGACTGGCCTGGACAAATGAGTGAGAACTTGTCTCTAAATAAATAAATCAAAGCACACAGCGGGGATCCTTGTGGTTTGGGATCTTTTCAGTATGTAGACTGTGGTGATGGATACGTGAACCTCCACAGGTTAAAGTTGTTTAGAGTTTCACATACACATGGTGCAATTGTGGGCAAATCTGAATAAGATCATAGATTGATTGTATTGATGTCCAATCTTGGTTTTGATATAGTACTAATTTTGCAAATGTTGCCCTCGGGAGAAACTAGGCACCGTGTGTAAACGCTCGTTATTAAAGACAACTGTGTACTAGTCTTTAATTATGTCAATGAAAATTCCGATTAAAAAATGTTCCCCCAGGGAACTCATTCTGAGATCATCTTCTCACTGCACTGGGAACAGATAATCTAGATTCAGATCCTCTTCCATTAGCTTGCCGAGGGTGTTTAGGCGAGTCTTTTTAACATCTCCAAACCTCAGTCCTTTCTCTGTCTCATGGAGATAAAGTGTACACATCCTGGCTACTCAGGGTCTTTACGAGGCTCCAGTTGACATTAACAAAAGGGGAAGGCATTAGGCAACATCAGGTGTTACAATGAGCATGTAATCACAGGGAGGGGGCAGAGAGCAAGCACTTGAGTGTGAGACTAATCTCGTTTTGAATGCTGGCTCCAGCATGCGTTTGCCTGCGACCTTGGCAAGGTCACTTAACCTCCCCACATCTCAGCTCTCTTTGCTGTGAAATTACTGCTCTTCTTGGGTAGGTGTGAGGAACAGAGGTAGTGTGAAGTGTAGGCATTCAGCTAATAACTACTATGACCCAACCCTCCGGGGCCATGACAGTGCACTGCTCCAGGGACACAATCACGTTGTTTGAAACGTGAACAGCAGCCTCTGTTATAGTGCAATATGCCAGCTCCACAGCCTTCCTGATGTTGGCTTCCAAGGGAGAGAATGGACAGGGTGATGTGAGAGTGAGGCTAAAGTGAGGCGGGAGAAGAATCCAAATGATGCTCAGGACCACCCTCCAATGCTCCTCCCCTGCTGCCCACCTCCTGCCCCACTCACGCGTGCCAGTGCTGCAGCACCAATTTCAGACCCAAGCCTCAGGATGAGGACAGAGGCACATAGACAGTCCTGCTCACTCCCTCATCACCTCTCCCTGCACATCCCCCCCATAGTGGCTGAGACCAATCCCAGGCACTCATCTGTGGACATCCAGCAAGAGCCAGGGCTCTGGTTGGGTGGGGTGATGTCCAGAGGCTGAGCCATTCCAAGGGAGCTGCCACTGCCCAGCTGCCCCTCCAGGTGGAGGCTTCCCCAGACT
|
ACATGCCACATGCTGAAGTGATACCTGAGCCACTAAAAGGCAGGGTCCACCTGCCTGGGGTGCAGGGGGAGGACTGGAGTGAAGCCTCTGAGTCATTTCCATGTGCCAAGCTCTCAGGAAGAAGGGAAGGTGAGGGCGTTCTTTCAGGGAGATGTGGGACCCACAGCTGAGGAGGGCGATGGGTTAACCGATCAGCATAGGAGCAGCAAGAGGGGCCTCTGCAAGCTCAGAATCATGACAAATCTTCATGCCGAGATAAGACGTCTCAGATCACTGAGCAATTTCATACTCACAATCGCATTTGAGAAATTACTAAATGGAATCTTTTGGGGCATATCATGGCATTGTGGTTATGGTTTTTAAGTAGTGCTTATCTCTTAGAGATACGGTGTAGCGAAATCTTGAAGCGTGAACTGACATGGTGCCTGGGAACAATTTTGGATGTCTGCTCCAAAATAACTGGTGGAAGGTGGAGTATAGAGGAAAGAAGACTGGCCCTAAGATGATGATTGTTGAAGCTGGTAATGGGTACCTTGGGCAGGGGGGGCCATTATTATTATTATTGCTACCTTTATGTGCATTTAAAATTTCCCATGATAAAAGGGAGAAGAAGCAAAAAAAATTGGGAAAAGTGATCAGTGTGTTTGAAGCAAATGGCAGACAGAAGAGACAGGTTTAAATCGTTTGCCTCAAGACCCGAGCAACCCAGGTAGGACTGATTCCCATTTTAGAAGGCACTGTTGTTGGAGGATCTTGCTCAGCTGAGAGTGAGGAGCAGGGACAGATGAGCTGCTTTCCCAGGGCTCCCAGGATTTCCACATTGCTGAGCCTGCCCCTTTCTGGCTCTCCACCTGCCTGAGGCACATACCTTCAACAGCTGCTTCTGCTCAGAAGAGAAGTCCAGGCAGCAAGAGAAGAGAGAAGAGGTGGGTCAGTTTCGAACCAGGCTGTCTTTGATCCAAATGAGTACACACGTTTACGCTTACCTTCCTGCTCCCTGAGAGCAACAGGAAACACTGTCAGTAGCTCGCACACAAGCACATGCAAACACACACGCCTGCACACACATGCACACACTGGCCTTTCCCCAAAGATAATCCCCCTTTCTTTTCCCTTGTTGCCTAGTGGAGTCCACGCTGCCCTGCCCACCTTGCAATGACACCCACTAGCCTGGCCTGCCGTTCTCATGCAGGGCTGCCTCCTACCATCCTCCGCAAGCCTCCGCCCCAGCCAGCTTGGTCTCACCAGCGTTCTGCTCACTTACTCTTTCCATCTTTGCCCAAGCTGTACCCCTTTCTAGAAAGTCCTGCCCTCTCCCAAATCTCTTATCTTTCCAAATTCTACACAGGTAAGACCTGCCTTCTCCACACAGCCCCCTGACTATTCCAGCCCCTGATCTCCCTCTCCTCAGAACTCCTACACTACCAACAGCCCGCCCTCCACACCAGGCCCCCAGTTGCTAATTTCTTCTCCCAGTTTATGTCTTAACATCTCAACAAGAGTAAGTTCTGTGAGGGCAGTAGCCGTGCCTATACCTCTGTCTCCTCCCTGGTGACCACTATCCTCTGTAGTTATTGGATTGGCTGTGTCCCACCCCCTGGTTTCCCTCTGGGATAGGACTGTGGGCAGGGCACTGTCATGAGAGAGTAGGGATCCAAGACAGGGTGATAACACTGGGTTCTGAGCTGGGGTTTGGGGGGCATAATCAGCTCTGTGCCTCTGGAGAGTCACTGAACCTTCCTCAGTCAGTTTCAGGAGACCCAACATCTCAGCTTCTCTGTTCATGGCCCCTAGCCAAGACTGGCCAAGGACACTGATGACCCTGGAGCTGAACCTCTGTGCTTCCCGAAGTCTCTCGGCCTGTGCTCTGCCTGGGATCTACAACCCAGGGGTACAGGAGTGGAAAGGAAATGGCTATATCTCTCCTCGGGGTGCCCAAAACACACACAGCTACTTCTACCCAGAATCCGAGGGACAGCTGGGAGGCTCCTGGACCAGGTGTCAGGGCAGCGGCGGGAGAGGACCCCACTCAGGCAAGATGCTCCAGATAACTCACTCCTCCTCGTACTCTTCCACCACCTCTTCTATGTCAGACATGGTCTCTGCTCTCCCTCCAAAAGGAGAAAAAAGTCAGTGCAGGTACAAAGGGAAGCCTGCCTTCCTCAGAAGAGCTCTGGCCCCCGTTGTACAGAGATCAGCGAGGCCTAGGGTGAATCTAGTTCCACCCCTCATGAGCTGTGTGACCTGCAACAAAAAGCCTGTTTTCTCCCCTGCTGGGGGAGATAGTGACACCCACATGGCAGCAAGGCCACCTGCTGATGTCCACTTCGTTCCTTGCCCCTGAACAGGCAATACTGCCTGGGATGCTGCATTTCCATTTGTGACACTCAAGACAATGTCTGCAGTTTCTCAACCTTTCCATCCACTCTGCCCACCCCCACTCCACAGGATCTGTTCAGCACTGTACAAATCTTCACTGCACAAAGCCTCACTGCAGCCTCAACCTTCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCTGAGTTGCTGGGACTATAGTTGTGCACCACCATGCCCGACTAATTTTTGTATTTTTAGTAAAGCTGGGATTTTGCCACATTGCCCAGGCTGTTTCGAACTCCCAGGCTCAAGGGATCCTCCTGCCTCAGCCTCTCGAAGTGCTGAGATTACAGGCGTGAGCCACCACACCCATTCCATGTGTGCTGGACAAAAGTGAGACCTGGACAAAAGGTCTTTGGGCACCCCAAGAGACTGGCCTGGACAAATGAGTGAGAACTTGTCTCTAAATAAATAAATCAAAGCACACAGCGGGGATCCTTGTGGTTTGGGATCTTTTCAGTATGTAGACTGTGGTGATGGATACGTGAACCTCCACAGGTTAAAGTTGTTTAGAGTTTCACATACACATGGTGCAATTGTGGGCAAATCTGAATAAGATCATAGATTGATTGTATTGATGTCCAATCTTGGTTTTGATATAGTACTAATTTTGCAAATGTTGCCCTCGGGAGAAACTAGGCACCGTGTGTAAACGCTCGTTATTAAAGACAACTGTGTACTAGTCTTTAATTATGTCAATGAAAATTCCGATTAAAAAATGTTCCCCCAGGGAACTCATTCTGAGATCATCTTCTCACTGCACTGGGAACAGATAATCTAGATTCAGATCCTCTTCCATTAGCTTGCCGAGGGTGTTTAGGCGAGTCTTTTTAACATCTCCAAACCTCAGTCCTTTCTCTGTCTCATGGAGATAAAGTGTACACATCCTGGCTACTCAGGGTCTTTACGAGGCTCCAGTTGACATTAACAAAAGGGGAAGGCATTAGGCAACATCAGGTGTTACAATGAGCATGTAATCACAGGGAGGGGGCAGAGAGCAAGCACTTGAGTGTGAGACTAATCTCGTTTTGAATGCTGGCTCCAGCATGCGTTTGCCTGCGACCTTGGCAAGGTCACTTAACCTCCCCACATCTCAGCTCTCTTTGCTGTGAAATTACTGCTCTTCTTGGGTAGGTGTGAGGAACAGAGGTAGTGTGAAGTGTAGGCATTCAGCTAATAACTACTATGACCCAACCCTCCGGGGCCATGACAGTGCACTGCTCCAGGGACACAATCACGTTGTTTGAAACGTGAACAGCAGCCTCTGTTATAGTGCAATATGCCAGCTCCACAGCCTTCCTGATGTTGGCTTCCAAGGGAGAGAATGGACAGGGTGATGTGAGAGTGAGGCTAAAGTGAGGCGGGAGAAGAATCCAAATGATGCTCAGGACCACCCTCCAATGCTCCTCCCCTGCTGCCCACCTCCTGCCCCACTCACGCGTGCCAGTGCTGCAGCACCAATTTCAGACCCAAGCCTCAGGATGAGGACAGAGGCACATAGACAGTCCTGCTCACTCCCTCATCACCTCTCCCTGCACATCCCCCCCATAGTGGCTGAGACCAATCCCAGGCACTCATCTGTGGACATCCAGCAAGAGCCAGGGCTCTGGTTGGGTGGGGTGATGTCCAGAGGCTGAGCCATTCCAAGGGAGCTGCCACTGCCCAGCTGCCCCTCCAGGTGGAGGCTTCCCCAGAC
|
benign
| 20,687
|
Considering the genetic mutation at chromosome 1, position 204156336, impacting REN (renin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
benign
|
TCTTGGGCAAGGCCTTCCATTCTCTGGGCCTCAGTTTCCCCACCTGTAAAGTGGAAGTATTGCCTGGATCTCTGGTGTTCTATGATTTTAGGTGGTAGTGCCTTAGAATGCCTGTGTAAATGGCTACATGGGGCAGGGCGGGGGCATCTGCAGTGGATAAGGACAGCTGAGGGGAGTTTTGCAGGGACAAGAGACAGGGCTGACTAGCTCAGCAGAGCAGAGTCTGAACTCAGAGCTGGCTTCTGTGAGCTGGGAGAACTTTCTGACCCACAGTCTACTGCCACAGCATTAGCCTTGGTCCCTGAGGGACTAGAGGGAGCTTGGTTCCGGCTCTTTTCAGACTTCCCACCTGAGGTTGTGTAAACAGCTCCACCTGAGTCCCGTTGATGGCAGATGGATGGCATCATCCCTGCACGCAAGAACCTGTGCGCTAGGCGAATGTGTAGCTTGTCTGTGTCACATTCCTGTCCACACATGATCACGCAGCCCCTCCCTCTGTTCTAAACCCTAGTGAACCCAGATGCAACAGGCTGTGAACATGAAGTCTTTATTCTCTTTGTCCTCAAAGCAGGGAAGGGCTGGTGCAGGGGTCAGGGCACGCATCCAGCAGGAGCTCCACATCCAATGTCTCCATCTGAGGGCATAAGCCCAGGCAGAGGGGCATCTCAGAGAGTGTTCCAGCTCTGGGCCAGGGCTGAAGGCAGGGCCTGCCTGGGTGGCAGAGGGCCTCAGCGGGCCAAGGCGAAGCCAATGCGGTTGTTACGCCGATCAAACTCTGTGTAGAACTTTCGGATGAAGGTGGCCCCCAGGGCCCAGGTGGGTCCAGTGGGTGGCGGGATATCCATGGCGTGGATGGCCAGTGTGCACAGCTTTTTACTACTGTAGGATTCCTGGCAGGAAGGGGGAGAGTTTCTCCATACCCAGCACATGAGCATTCTCCTTTCACCTTGCCTGACCCCCAGCAACTGTCTTCAGCAACATTCCCCCTCTCGCCCCCATCTCTCCCCTAGCCACACTGGGCCTCCCTCACATCATGGCCATTTTGCCCCATCGTGGACTGCACCACTCCTATGTTTAGCCCCTGTGCTAGATCCCAGGCAAACAATGCATCAGGCACCGTGCTTCCTTCAGGAGCTTACAGTTTGCCTTAGCTTCTGATCCTAGACAAGTTATTCAACTTCTCTAAGCCTATTGATTATGAAAAGAGGGTAAGAATATAGGAGCATAGGATTCTTGGGAGTATTTGATGAGAAAATGGAGATGAGGGAACAGGCATAGTGATGCCCAAACATGGCCACACATTGGAATCACCTGGGGAAACTGAACCCCAGGTGCCACTTCTAGAGGTTCTGATTTAATAGGTATGGGATGTGGCCCAGGTACCAGGATTTTTCAAAGCTCTCCAGGTGACATGCACAGCCAAGTTTGAGAACTACAGTTCTAACATGACCTGTGCATTGTAATCTGTCACTCTTTGAGGGTCTCTGTCCAGCCTTTCTCCCTGCCACCGAGGGGGCCGACTCGAACCTCACCTGAAATACATAGTCCGCGCTGGTGAGCGTGTATTCTTTGCCTCCCAGGTGGAAAGAGATGTCGGGGAGTGTAGGGCCCTCGTTACACTTCACGACATACTGGGGTGGGGGGCAAAGAGAGCCTTCTTGAGTATGGAAGACGTCTCAGCAGACAAGGAGTCCTGCGCTGGTGGCCTGGTCTCTCTGCTGGAGAGGGCTGGGGACAGTGCCCCGCCCCATGGGTGACCAGCCACATGTGTGGAGAGTGTGAGGTGAACAAGCGAAGGCCTGAGATGGCCTCATTTGCCTGGGGGATTTGTGAGCCGATACCAGGTGGCGCTCCCCCCACCCACAGCACCTTCCCTCTTTGGCTTCTTACATCAAACAGCCTCTTCTTGGCTCCCAAGGCCTCCATGAGCTTCTCTATGGAGCTGGTAGAACCTGAGATGTAGGATGCACCGGTGTCTACCAATGCCAGGCAGCCGTCTTCACAGAGCAAGGTGGATGACCCCACAGACACCCTGGGGGAGGCCACAGTCAGACAGACAGACAGACAGACAGACAGAAGGCTGATGGGGCACCTCCAGGCTGCATGTCCTTCCTGAGTGTGGGTGGGTGGGTGGAGGCCACGCTGGTGGCCTGTTGAGGCAGTGAGTAGAGGAGGGAAGGTACTGTCACCCTCCACCACTTCTCCCCAGGCCCCTCCCTTCTCTGTTCCCCAGCCTGGACAGAGCAGGCAGAGAGCAAATGGTGGCTGTGCTTAAGAAGTGGCTGCATTTGGAAAGAGGGCAGGATGGTAATGCAGTCCTTCCCCACCCTCCCCAACCCCAGTGACGGCAGCATTTTTTGGAGCCCGGGGAGGGTTGAGGATTTCTGACCCCTTCATTTGAATCTGCCAGACACCAGTCTTGATGAGGTTGATATAGTGGAAATTCCCTTCGTAATGCTGGGGGTCGCTGCCTCCCAGCACAATCTGTCCTCCCAGCGATTGGGAATTCCTAAAGGAAAGATCAGAAGCTCTTGGAAACCCATAACCTCCAGGACCCAGCAACTCAGGCAATTGGGGAAGGTTGCACAAGGGTGCAGGGGAGGACAGAGGGCTCTAGAGCAGAGGAATGTGGGACAGACAGCCAGGCTCGGAGCTGTCGTTGGGAAGCATGCAGAACATACTGCTTCTCTGCCTTTCTTCCCCTCCCCAAGACCAACCAGAGGTTGTTCCAGGGTAGTCCAGCTGTTCCCCCAAAAAGCATCCCCAGAGAGGTCACAGAAAAGGAGCAGGTACAAGGACAGTGAGTGGATGTGAACAAGACACAAATGGACACCCCTCACTCTTGGGTTGCTGCTGATTGAGCAGGTGCATGGGAGGGGACCCTGGGGAGGCTATTGGGTATGGGGTGGGCAGGTGGCATGGAGAGAGCAGGAAGGAGAGACAGAGAACTTCGGCATCTAGCGGAGGCTGGGCTTGCTGATGTGAGTTTTGGGCCGGTGGCGTGTGTAATTCTAGGTCAGGTGCTCGGGGAGTACTGGAAGGTCACAGCCATGTGGGGGTTTTGTCTCCTTACTCGGAATCTCTGCAGAGAAAGAGAGACAGCAGAAAGGAAGCTTCATTTCATGCCAGCCTCATCAGCCCTGCTGTTTGGCAGGGTGGGTGTTATGTACTCTCTTTGCCCTTCAGGCAATGGAGTCACCAAGAGGCGAAGTCACTTGCCTGAAGTTACCCAGTCCATGAGTGAACAAGTGGGGGACTGGAGCCAGGCTCCTGGTGCCCCGTCTGGAGCTGATTCCCCTCACCTTCCTTTCCTCCTCACTGCACTTGGCTCAGGGACTACTGTAGGCCTAGTCTCCAGGGCATGCCTGTGTGTGTGATGTGTTTTTCCAGAATTCATACTAGAATTCACACATGCACATGTGTGCATGGGTGTGTAGGTGTGCATATGTTATTTTGTGCAACTGCAAACTACTTGTGTTTTTATAAATTCGGAATGTATGTGTATATGCTAGCACAAATTCCCTCCTGCCTGTCTCTCAACACTTCAGTATCTCTCTGGATGTTCCCTCCTTCCCATCCCAAGATAAAAGAAGAGGCCAGCCCTCTCCTCTGCAAAACCTGGCTTCTTCCTGTCTGCTGGAACCTCATCTCTTTCAAGGCCTCCAAACTCCAGTGCCCCCATTTAGCTCCTCTTCTTTCCACATTTTTAATCTCTTTCTTTCCATTGGCTTCTTCCTCCACCTACAGGCATCACTCGAGCATCCTCTAGCATTTAAAAACACCCACCCTTCCTCTTCTGCTTCTGGATCTCACCCCCCACGCCACCCCCCATTCCCTTCCCTGTTGAATGTCCCAGGGCAGCCTACATCTCATGACCTCCACTTCCTGACACCCACGTCGTCCACCTCTTAACTTCTTGCCATCTGGCCTTGCCCCCACTTCCTCTAAAACAGTTCTTCTAAAGACCACCCCTGAATGCAGAGCCGCCAATTGGCCTTTTCTCAAGGCCTCACTTTCTATCACCAAACCGGAGACTCCTCTCCATTTTACTGTGAGATTTCTCTGAACTCTGATCCTCTCCTCTATTCTTTTTGCC
|
TCTTGGGCAAGGCCTTCCATTCTCTGGGCCTCAGTTTCCCCACCTGTAAAGTGGAAGTATTGCCTGGATCTCTGGTGTTCTATGATTTTAGGTGGTAGTGCCTTAGAATGCCTGTGTAAATGGCTACATGGGGCAGGGCGGGGGCATCTGCAGTGGATAAGGACAGCTGAGGGGAGTTTTGCAGGGACAAGAGACAGGGCTGACTAGCTCAGCAGAGCAGAGTCTGAACTCAGAGCTGGCTTCTGTGAGCTGGGAGAACTTTCTGACCCACAGTCTACTGCCACAGCATTAGCCTTGGTCCCTGAGGGACTAGAGGGAGCTTGGTTCCGGCTCTTTTCAGACTTCCCACCTGAGGTTGTGTAAACAGCTCCACCTGAGTCCCGTTGATGGCAGATGGATGGCATCATCCCTGCACGCAAGAACCTGTGCGCTAGGCGAATGTGTAGCTTGTCTGTGTCACATTCCTGTCCACACATGATCACGCAGCCCCTCCCTCTGTTCTAAACCCTAGTGAACCCAGATGCAACAGGCTGTGAACATGAAGTCTTTATTCTCTTTGTCCTCAAAGCAGGGAAGGGCTGGTGCAGGGGTCAGGGCACGCATCCAGCAGGAGCTCCACATCCAATGTCTCCATCTGAGGGCATAAGCCCAGGCAGAGGGGCATCTCAGAGAGTGTTCCAGCTCTGGGCCAGGGCTGAAGGCAGGGCCTGCCTGGGTGGCAGAGGGCCTCAGCGGGCCAAGGCGAAGCCAATGCGGTTGTTACGCCGATCAAACTCTGTGTAGAACTTTCGGATGAAGGTGGCCCCCAGGGCCCAGGTGGGTCCAGTGGGTGGCGGGATATCCATGGCGTGGATGGCCAGTGTGCACAGCTTTTTACTACTGTAGGATTCCTGGCAGGAAGGGGGAGAGTTTCTCCATACCCAGCACATGAGCATTCTCCTTTCACCTTGCCTGACCCCCAGCAACTGTCTTCAGCAACATTCCCCCTCTCGCCCCCATCTCTCCCCTAGCCACACTGGGCCTCCCTCACATCATGGCCATTTTGCCCCATCGTGGACTGCACCACTCCTATGTTTAGCCCCTGTGCTAGATCCCAGGCAAACAATGCATCAGGCACCGTGCTTCCTTCAGGAGCTTACAGTTTGCCTTAGCTTCTGATCCTAGACAAGTTATTCAACTTCTCTAAGCCTATTGATTATGAAAAGAGGGTAAGAATATAGGAGCATAGGATTCTTGGGAGTATTTGATGAGAAAATGGAGATGAGGGAACAGGCATAGTGATGCCCAAACATGGCCACACATTGGAATCACCTGGGGAAACTGAACCCCAGGTGCCACTTCTAGAGGTTCTGATTTAATAGGTATGGGATGTGGCCCAGGTACCAGGATTTTTCAAAGCTCTCCAGGTGACATGCACAGCCAAGTTTGAGAACTACAGTTCTAACATGACCTGTGCATTGTAATCTGTCACTCTTTGAGGGTCTCTGTCCAGCCTTTCTCCCTGCCACCGAGGGGGCCGACTCGAACCTCACCTGAAATACATAGTCCGCGCTGGTGAGCGTGTATTCTTTGCCTCCCAGGTGGAAAGAGATGTCGGGGAGTGTAGGGCCCTCGTTACACTTCACGACATACTGGGGTGGGGGGCAAAGAGAGCCTTCTTGAGTATGGAAGACGTCTCAGCAGACAAGGAGTCCTGCGCTGGTGGCCTGGTCTCTCTGCTGGAGAGGGCTGGGGACAGTGCCCCGCCCCATGGGTGACCAGCCACATGTGTGGAGAGTGTGAGGTGAACAAGCGAAGGCCTGAGATGGCCTCATTTGCCTGGGGGATTTGTGAGCCGATACCAGGTGGCGCTCCCCCCACCCACAGCACCTTCCCTCTTTGGCTTCTTACATCAAACAGCCTCTTCTTGGCTCCCAAGGCCTCCATGAGCTTCTCTATGGAGCTGGTAGAACCTGAGATGTAGGATGCACCGGTGTCTACCAATGCCAGGCAGCCGTCTTCACAGAGCAAGGTGGATGACCCCACAGACACCCTGGGGGAGGCCACAGTCAGACAGACAGACAGACAGACAGACAGACAGACAGAAGGCTGATGGGGCACCTCCAGGCTGCATGTCCTTCCTGAGTGTGGGTGGGTGGGTGGAGGCCACGCTGGTGGCCTGTTGAGGCAGTGAGTAGAGGAGGGAAGGTACTGTCACCCTCCACCACTTCTCCCCAGGCCCCTCCCTTCTCTGTTCCCCAGCCTGGACAGAGCAGGCAGAGAGCAAATGGTGGCTGTGCTTAAGAAGTGGCTGCATTTGGAAAGAGGGCAGGATGGTAATGCAGTCCTTCCCCACCCTCCCCAACCCCAGTGACGGCAGCATTTTTTGGAGCCCGGGGAGGGTTGAGGATTTCTGACCCCTTCATTTGAATCTGCCAGACACCAGTCTTGATGAGGTTGATATAGTGGAAATTCCCTTCGTAATGCTGGGGGTCGCTGCCTCCCAGCACAATCTGTCCTCCCAGCGATTGGGAATTCCTAAAGGAAAGATCAGAAGCTCTTGGAAACCCATAACCTCCAGGACCCAGCAACTCAGGCAATTGGGGAAGGTTGCACAAGGGTGCAGGGGAGGACAGAGGGCTCTAGAGCAGAGGAATGTGGGACAGACAGCCAGGCTCGGAGCTGTCGTTGGGAAGCATGCAGAACATACTGCTTCTCTGCCTTTCTTCCCCTCCCCAAGACCAACCAGAGGTTGTTCCAGGGTAGTCCAGCTGTTCCCCCAAAAAGCATCCCCAGAGAGGTCACAGAAAAGGAGCAGGTACAAGGACAGTGAGTGGATGTGAACAAGACACAAATGGACACCCCTCACTCTTGGGTTGCTGCTGATTGAGCAGGTGCATGGGAGGGGACCCTGGGGAGGCTATTGGGTATGGGGTGGGCAGGTGGCATGGAGAGAGCAGGAAGGAGAGACAGAGAACTTCGGCATCTAGCGGAGGCTGGGCTTGCTGATGTGAGTTTTGGGCCGGTGGCGTGTGTAATTCTAGGTCAGGTGCTCGGGGAGTACTGGAAGGTCACAGCCATGTGGGGGTTTTGTCTCCTTACTCGGAATCTCTGCAGAGAAAGAGAGACAGCAGAAAGGAAGCTTCATTTCATGCCAGCCTCATCAGCCCTGCTGTTTGGCAGGGTGGGTGTTATGTACTCTCTTTGCCCTTCAGGCAATGGAGTCACCAAGAGGCGAAGTCACTTGCCTGAAGTTACCCAGTCCATGAGTGAACAAGTGGGGGACTGGAGCCAGGCTCCTGGTGCCCCGTCTGGAGCTGATTCCCCTCACCTTCCTTTCCTCCTCACTGCACTTGGCTCAGGGACTACTGTAGGCCTAGTCTCCAGGGCATGCCTGTGTGTGTGATGTGTTTTTCCAGAATTCATACTAGAATTCACACATGCACATGTGTGCATGGGTGTGTAGGTGTGCATATGTTATTTTGTGCAACTGCAAACTACTTGTGTTTTTATAAATTCGGAATGTATGTGTATATGCTAGCACAAATTCCCTCCTGCCTGTCTCTCAACACTTCAGTATCTCTCTGGATGTTCCCTCCTTCCCATCCCAAGATAAAAGAAGAGGCCAGCCCTCTCCTCTGCAAAACCTGGCTTCTTCCTGTCTGCTGGAACCTCATCTCTTTCAAGGCCTCCAAACTCCAGTGCCCCCATTTAGCTCCTCTTCTTTCCACATTTTTAATCTCTTTCTTTCCATTGGCTTCTTCCTCCACCTACAGGCATCACTCGAGCATCCTCTAGCATTTAAAAACACCCACCCTTCCTCTTCTGCTTCTGGATCTCACCCCCCACGCCACCCCCCATTCCCTTCCCTGTTGAATGTCCCAGGGCAGCCTACATCTCATGACCTCCACTTCCTGACACCCACGTCGTCCACCTCTTAACTTCTTGCCATCTGGCCTTGCCCCCACTTCCTCTAAAACAGTTCTTCTAAAGACCACCCCTGAATGCAGAGCCGCCAATTGGCCTTTTCTCAAGGCCTCACTTTCTATCACCAAACCGGAGACTCCTCTCCATTTTACTGTGAGATTTCTCTGAACTCTGATCCTCTCCTCTATTC
|
benign
| 20,843
|
Regarding the variant found on chromosome 1 at position 204156336 in gene REN (renin): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
benign
|
TCTTGGGCAAGGCCTTCCATTCTCTGGGCCTCAGTTTCCCCACCTGTAAAGTGGAAGTATTGCCTGGATCTCTGGTGTTCTATGATTTTAGGTGGTAGTGCCTTAGAATGCCTGTGTAAATGGCTACATGGGGCAGGGCGGGGGCATCTGCAGTGGATAAGGACAGCTGAGGGGAGTTTTGCAGGGACAAGAGACAGGGCTGACTAGCTCAGCAGAGCAGAGTCTGAACTCAGAGCTGGCTTCTGTGAGCTGGGAGAACTTTCTGACCCACAGTCTACTGCCACAGCATTAGCCTTGGTCCCTGAGGGACTAGAGGGAGCTTGGTTCCGGCTCTTTTCAGACTTCCCACCTGAGGTTGTGTAAACAGCTCCACCTGAGTCCCGTTGATGGCAGATGGATGGCATCATCCCTGCACGCAAGAACCTGTGCGCTAGGCGAATGTGTAGCTTGTCTGTGTCACATTCCTGTCCACACATGATCACGCAGCCCCTCCCTCTGTTCTAAACCCTAGTGAACCCAGATGCAACAGGCTGTGAACATGAAGTCTTTATTCTCTTTGTCCTCAAAGCAGGGAAGGGCTGGTGCAGGGGTCAGGGCACGCATCCAGCAGGAGCTCCACATCCAATGTCTCCATCTGAGGGCATAAGCCCAGGCAGAGGGGCATCTCAGAGAGTGTTCCAGCTCTGGGCCAGGGCTGAAGGCAGGGCCTGCCTGGGTGGCAGAGGGCCTCAGCGGGCCAAGGCGAAGCCAATGCGGTTGTTACGCCGATCAAACTCTGTGTAGAACTTTCGGATGAAGGTGGCCCCCAGGGCCCAGGTGGGTCCAGTGGGTGGCGGGATATCCATGGCGTGGATGGCCAGTGTGCACAGCTTTTTACTACTGTAGGATTCCTGGCAGGAAGGGGGAGAGTTTCTCCATACCCAGCACATGAGCATTCTCCTTTCACCTTGCCTGACCCCCAGCAACTGTCTTCAGCAACATTCCCCCTCTCGCCCCCATCTCTCCCCTAGCCACACTGGGCCTCCCTCACATCATGGCCATTTTGCCCCATCGTGGACTGCACCACTCCTATGTTTAGCCCCTGTGCTAGATCCCAGGCAAACAATGCATCAGGCACCGTGCTTCCTTCAGGAGCTTACAGTTTGCCTTAGCTTCTGATCCTAGACAAGTTATTCAACTTCTCTAAGCCTATTGATTATGAAAAGAGGGTAAGAATATAGGAGCATAGGATTCTTGGGAGTATTTGATGAGAAAATGGAGATGAGGGAACAGGCATAGTGATGCCCAAACATGGCCACACATTGGAATCACCTGGGGAAACTGAACCCCAGGTGCCACTTCTAGAGGTTCTGATTTAATAGGTATGGGATGTGGCCCAGGTACCAGGATTTTTCAAAGCTCTCCAGGTGACATGCACAGCCAAGTTTGAGAACTACAGTTCTAACATGACCTGTGCATTGTAATCTGTCACTCTTTGAGGGTCTCTGTCCAGCCTTTCTCCCTGCCACCGAGGGGGCCGACTCGAACCTCACCTGAAATACATAGTCCGCGCTGGTGAGCGTGTATTCTTTGCCTCCCAGGTGGAAAGAGATGTCGGGGAGTGTAGGGCCCTCGTTACACTTCACGACATACTGGGGTGGGGGGCAAAGAGAGCCTTCTTGAGTATGGAAGACGTCTCAGCAGACAAGGAGTCCTGCGCTGGTGGCCTGGTCTCTCTGCTGGAGAGGGCTGGGGACAGTGCCCCGCCCCATGGGTGACCAGCCACATGTGTGGAGAGTGTGAGGTGAACAAGCGAAGGCCTGAGATGGCCTCATTTGCCTGGGGGATTTGTGAGCCGATACCAGGTGGCGCTCCCCCCACCCACAGCACCTTCCCTCTTTGGCTTCTTACATCAAACAGCCTCTTCTTGGCTCCCAAGGCCTCCATGAGCTTCTCTATGGAGCTGGTAGAACCTGAGATGTAGGATGCACCGGTGTCTACCAATGCCAGGCAGCCGTCTTCACAGAGCAAGGTGGATGACCCCACAGACACCCTGGGGGAGGCCACAGTCAGACAGACAGACAGACAGACAGACAGAAGGCTGATGGGGCACCTCCAGGCTGCATGTCCTTCCTGAGTGTGGGTGGGTGGGTGGAGGCCACGCTGGTGGCCTGTTGAGGCAGTGAGTAGAGGAGGGAAGGTACTGTCACCCTCCACCACTTCTCCCCAGGCCCCTCCCTTCTCTGTTCCCCAGCCTGGACAGAGCAGGCAGAGAGCAAATGGTGGCTGTGCTTAAGAAGTGGCTGCATTTGGAAAGAGGGCAGGATGGTAATGCAGTCCTTCCCCACCCTCCCCAACCCCAGTGACGGCAGCATTTTTTGGAGCCCGGGGAGGGTTGAGGATTTCTGACCCCTTCATTTGAATCTGCCAGACACCAGTCTTGATGAGGTTGATATAGTGGAAATTCCCTTCGTAATGCTGGGGGTCGCTGCCTCCCAGCACAATCTGTCCTCCCAGCGATTGGGAATTCCTAAAGGAAAGATCAGAAGCTCTTGGAAACCCATAACCTCCAGGACCCAGCAACTCAGGCAATTGGGGAAGGTTGCACAAGGGTGCAGGGGAGGACAGAGGGCTCTAGAGCAGAGGAATGTGGGACAGACAGCCAGGCTCGGAGCTGTCGTTGGGAAGCATGCAGAACATACTGCTTCTCTGCCTTTCTTCCCCTCCCCAAGACCAACCAGAGGTTGTTCCAGGGTAGTCCAGCTGTTCCCCCAAAAAGCATCCCCAGAGAGGTCACAGAAAAGGAGCAGGTACAAGGACAGTGAGTGGATGTGAACAAGACACAAATGGACACCCCTCACTCTTGGGTTGCTGCTGATTGAGCAGGTGCATGGGAGGGGACCCTGGGGAGGCTATTGGGTATGGGGTGGGCAGGTGGCATGGAGAGAGCAGGAAGGAGAGACAGAGAACTTCGGCATCTAGCGGAGGCTGGGCTTGCTGATGTGAGTTTTGGGCCGGTGGCGTGTGTAATTCTAGGTCAGGTGCTCGGGGAGTACTGGAAGGTCACAGCCATGTGGGGGTTTTGTCTCCTTACTCGGAATCTCTGCAGAGAAAGAGAGACAGCAGAAAGGAAGCTTCATTTCATGCCAGCCTCATCAGCCCTGCTGTTTGGCAGGGTGGGTGTTATGTACTCTCTTTGCCCTTCAGGCAATGGAGTCACCAAGAGGCGAAGTCACTTGCCTGAAGTTACCCAGTCCATGAGTGAACAAGTGGGGGACTGGAGCCAGGCTCCTGGTGCCCCGTCTGGAGCTGATTCCCCTCACCTTCCTTTCCTCCTCACTGCACTTGGCTCAGGGACTACTGTAGGCCTAGTCTCCAGGGCATGCCTGTGTGTGTGATGTGTTTTTCCAGAATTCATACTAGAATTCACACATGCACATGTGTGCATGGGTGTGTAGGTGTGCATATGTTATTTTGTGCAACTGCAAACTACTTGTGTTTTTATAAATTCGGAATGTATGTGTATATGCTAGCACAAATTCCCTCCTGCCTGTCTCTCAACACTTCAGTATCTCTCTGGATGTTCCCTCCTTCCCATCCCAAGATAAAAGAAGAGGCCAGCCCTCTCCTCTGCAAAACCTGGCTTCTTCCTGTCTGCTGGAACCTCATCTCTTTCAAGGCCTCCAAACTCCAGTGCCCCCATTTAGCTCCTCTTCTTTCCACATTTTTAATCTCTTTCTTTCCATTGGCTTCTTCCTCCACCTACAGGCATCACTCGAGCATCCTCTAGCATTTAAAAACACCCACCCTTCCTCTTCTGCTTCTGGATCTCACCCCCCACGCCACCCCCCATTCCCTTCCCTGTTGAATGTCCCAGGGCAGCCTACATCTCATGACCTCCACTTCCTGACACCCACGTCGTCCACCTCTTAACTTCTTGCCATCTGGCCTTGCCCCCACTTCCTCTAAAACAGTTCTTCTAAAGACCACCCCTGAATGCAGAGCCGCCAATTGGCCTTTTCTCAAGGCCTCACTTTCTATCACCAAACCGGAGACTCCTCTCCATTTTACTGTGAGATTTCTCTGAACTCTGATCCTCTCCTCTATTCTTTTTGCC
|
TCTTGGGCAAGGCCTTCCATTCTCTGGGCCTCAGTTTCCCCACCTGTAAAGTGGAAGTATTGCCTGGATCTCTGGTGTTCTATGATTTTAGGTGGTAGTGCCTTAGAATGCCTGTGTAAATGGCTACATGGGGCAGGGCGGGGGCATCTGCAGTGGATAAGGACAGCTGAGGGGAGTTTTGCAGGGACAAGAGACAGGGCTGACTAGCTCAGCAGAGCAGAGTCTGAACTCAGAGCTGGCTTCTGTGAGCTGGGAGAACTTTCTGACCCACAGTCTACTGCCACAGCATTAGCCTTGGTCCCTGAGGGACTAGAGGGAGCTTGGTTCCGGCTCTTTTCAGACTTCCCACCTGAGGTTGTGTAAACAGCTCCACCTGAGTCCCGTTGATGGCAGATGGATGGCATCATCCCTGCACGCAAGAACCTGTGCGCTAGGCGAATGTGTAGCTTGTCTGTGTCACATTCCTGTCCACACATGATCACGCAGCCCCTCCCTCTGTTCTAAACCCTAGTGAACCCAGATGCAACAGGCTGTGAACATGAAGTCTTTATTCTCTTTGTCCTCAAAGCAGGGAAGGGCTGGTGCAGGGGTCAGGGCACGCATCCAGCAGGAGCTCCACATCCAATGTCTCCATCTGAGGGCATAAGCCCAGGCAGAGGGGCATCTCAGAGAGTGTTCCAGCTCTGGGCCAGGGCTGAAGGCAGGGCCTGCCTGGGTGGCAGAGGGCCTCAGCGGGCCAAGGCGAAGCCAATGCGGTTGTTACGCCGATCAAACTCTGTGTAGAACTTTCGGATGAAGGTGGCCCCCAGGGCCCAGGTGGGTCCAGTGGGTGGCGGGATATCCATGGCGTGGATGGCCAGTGTGCACAGCTTTTTACTACTGTAGGATTCCTGGCAGGAAGGGGGAGAGTTTCTCCATACCCAGCACATGAGCATTCTCCTTTCACCTTGCCTGACCCCCAGCAACTGTCTTCAGCAACATTCCCCCTCTCGCCCCCATCTCTCCCCTAGCCACACTGGGCCTCCCTCACATCATGGCCATTTTGCCCCATCGTGGACTGCACCACTCCTATGTTTAGCCCCTGTGCTAGATCCCAGGCAAACAATGCATCAGGCACCGTGCTTCCTTCAGGAGCTTACAGTTTGCCTTAGCTTCTGATCCTAGACAAGTTATTCAACTTCTCTAAGCCTATTGATTATGAAAAGAGGGTAAGAATATAGGAGCATAGGATTCTTGGGAGTATTTGATGAGAAAATGGAGATGAGGGAACAGGCATAGTGATGCCCAAACATGGCCACACATTGGAATCACCTGGGGAAACTGAACCCCAGGTGCCACTTCTAGAGGTTCTGATTTAATAGGTATGGGATGTGGCCCAGGTACCAGGATTTTTCAAAGCTCTCCAGGTGACATGCACAGCCAAGTTTGAGAACTACAGTTCTAACATGACCTGTGCATTGTAATCTGTCACTCTTTGAGGGTCTCTGTCCAGCCTTTCTCCCTGCCACCGAGGGGGCCGACTCGAACCTCACCTGAAATACATAGTCCGCGCTGGTGAGCGTGTATTCTTTGCCTCCCAGGTGGAAAGAGATGTCGGGGAGTGTAGGGCCCTCGTTACACTTCACGACATACTGGGGTGGGGGGCAAAGAGAGCCTTCTTGAGTATGGAAGACGTCTCAGCAGACAAGGAGTCCTGCGCTGGTGGCCTGGTCTCTCTGCTGGAGAGGGCTGGGGACAGTGCCCCGCCCCATGGGTGACCAGCCACATGTGTGGAGAGTGTGAGGTGAACAAGCGAAGGCCTGAGATGGCCTCATTTGCCTGGGGGATTTGTGAGCCGATACCAGGTGGCGCTCCCCCCACCCACAGCACCTTCCCTCTTTGGCTTCTTACATCAAACAGCCTCTTCTTGGCTCCCAAGGCCTCCATGAGCTTCTCTATGGAGCTGGTAGAACCTGAGATGTAGGATGCACCGGTGTCTACCAATGCCAGGCAGCCGTCTTCACAGAGCAAGGTGGATGACCCCACAGACACCCTGGGGGAGGCCACAGTCAGACAGACAGACAGACAGACAGACAGACAGACAGACAGAAGGCTGATGGGGCACCTCCAGGCTGCATGTCCTTCCTGAGTGTGGGTGGGTGGGTGGAGGCCACGCTGGTGGCCTGTTGAGGCAGTGAGTAGAGGAGGGAAGGTACTGTCACCCTCCACCACTTCTCCCCAGGCCCCTCCCTTCTCTGTTCCCCAGCCTGGACAGAGCAGGCAGAGAGCAAATGGTGGCTGTGCTTAAGAAGTGGCTGCATTTGGAAAGAGGGCAGGATGGTAATGCAGTCCTTCCCCACCCTCCCCAACCCCAGTGACGGCAGCATTTTTTGGAGCCCGGGGAGGGTTGAGGATTTCTGACCCCTTCATTTGAATCTGCCAGACACCAGTCTTGATGAGGTTGATATAGTGGAAATTCCCTTCGTAATGCTGGGGGTCGCTGCCTCCCAGCACAATCTGTCCTCCCAGCGATTGGGAATTCCTAAAGGAAAGATCAGAAGCTCTTGGAAACCCATAACCTCCAGGACCCAGCAACTCAGGCAATTGGGGAAGGTTGCACAAGGGTGCAGGGGAGGACAGAGGGCTCTAGAGCAGAGGAATGTGGGACAGACAGCCAGGCTCGGAGCTGTCGTTGGGAAGCATGCAGAACATACTGCTTCTCTGCCTTTCTTCCCCTCCCCAAGACCAACCAGAGGTTGTTCCAGGGTAGTCCAGCTGTTCCCCCAAAAAGCATCCCCAGAGAGGTCACAGAAAAGGAGCAGGTACAAGGACAGTGAGTGGATGTGAACAAGACACAAATGGACACCCCTCACTCTTGGGTTGCTGCTGATTGAGCAGGTGCATGGGAGGGGACCCTGGGGAGGCTATTGGGTATGGGGTGGGCAGGTGGCATGGAGAGAGCAGGAAGGAGAGACAGAGAACTTCGGCATCTAGCGGAGGCTGGGCTTGCTGATGTGAGTTTTGGGCCGGTGGCGTGTGTAATTCTAGGTCAGGTGCTCGGGGAGTACTGGAAGGTCACAGCCATGTGGGGGTTTTGTCTCCTTACTCGGAATCTCTGCAGAGAAAGAGAGACAGCAGAAAGGAAGCTTCATTTCATGCCAGCCTCATCAGCCCTGCTGTTTGGCAGGGTGGGTGTTATGTACTCTCTTTGCCCTTCAGGCAATGGAGTCACCAAGAGGCGAAGTCACTTGCCTGAAGTTACCCAGTCCATGAGTGAACAAGTGGGGGACTGGAGCCAGGCTCCTGGTGCCCCGTCTGGAGCTGATTCCCCTCACCTTCCTTTCCTCCTCACTGCACTTGGCTCAGGGACTACTGTAGGCCTAGTCTCCAGGGCATGCCTGTGTGTGTGATGTGTTTTTCCAGAATTCATACTAGAATTCACACATGCACATGTGTGCATGGGTGTGTAGGTGTGCATATGTTATTTTGTGCAACTGCAAACTACTTGTGTTTTTATAAATTCGGAATGTATGTGTATATGCTAGCACAAATTCCCTCCTGCCTGTCTCTCAACACTTCAGTATCTCTCTGGATGTTCCCTCCTTCCCATCCCAAGATAAAAGAAGAGGCCAGCCCTCTCCTCTGCAAAACCTGGCTTCTTCCTGTCTGCTGGAACCTCATCTCTTTCAAGGCCTCCAAACTCCAGTGCCCCCATTTAGCTCCTCTTCTTTCCACATTTTTAATCTCTTTCTTTCCATTGGCTTCTTCCTCCACCTACAGGCATCACTCGAGCATCCTCTAGCATTTAAAAACACCCACCCTTCCTCTTCTGCTTCTGGATCTCACCCCCCACGCCACCCCCCATTCCCTTCCCTGTTGAATGTCCCAGGGCAGCCTACATCTCATGACCTCCACTTCCTGACACCCACGTCGTCCACCTCTTAACTTCTTGCCATCTGGCCTTGCCCCCACTTCCTCTAAAACAGTTCTTCTAAAGACCACCCCTGAATGCAGAGCCGCCAATTGGCCTTTTCTCAAGGCCTCACTTTCTATCACCAAACCGGAGACTCCTCTCCATTTTACTGTGAGATTTCTCTGAACTCTGATCCTCTCCTCT
|
benign
| 20,844
|
The chromosome 1, position 204156336 genetic variant in gene REN (renin): benign or pathogenic? If pathogenic, indicate disease(s).
|
benign
|
TCTTGGGCAAGGCCTTCCATTCTCTGGGCCTCAGTTTCCCCACCTGTAAAGTGGAAGTATTGCCTGGATCTCTGGTGTTCTATGATTTTAGGTGGTAGTGCCTTAGAATGCCTGTGTAAATGGCTACATGGGGCAGGGCGGGGGCATCTGCAGTGGATAAGGACAGCTGAGGGGAGTTTTGCAGGGACAAGAGACAGGGCTGACTAGCTCAGCAGAGCAGAGTCTGAACTCAGAGCTGGCTTCTGTGAGCTGGGAGAACTTTCTGACCCACAGTCTACTGCCACAGCATTAGCCTTGGTCCCTGAGGGACTAGAGGGAGCTTGGTTCCGGCTCTTTTCAGACTTCCCACCTGAGGTTGTGTAAACAGCTCCACCTGAGTCCCGTTGATGGCAGATGGATGGCATCATCCCTGCACGCAAGAACCTGTGCGCTAGGCGAATGTGTAGCTTGTCTGTGTCACATTCCTGTCCACACATGATCACGCAGCCCCTCCCTCTGTTCTAAACCCTAGTGAACCCAGATGCAACAGGCTGTGAACATGAAGTCTTTATTCTCTTTGTCCTCAAAGCAGGGAAGGGCTGGTGCAGGGGTCAGGGCACGCATCCAGCAGGAGCTCCACATCCAATGTCTCCATCTGAGGGCATAAGCCCAGGCAGAGGGGCATCTCAGAGAGTGTTCCAGCTCTGGGCCAGGGCTGAAGGCAGGGCCTGCCTGGGTGGCAGAGGGCCTCAGCGGGCCAAGGCGAAGCCAATGCGGTTGTTACGCCGATCAAACTCTGTGTAGAACTTTCGGATGAAGGTGGCCCCCAGGGCCCAGGTGGGTCCAGTGGGTGGCGGGATATCCATGGCGTGGATGGCCAGTGTGCACAGCTTTTTACTACTGTAGGATTCCTGGCAGGAAGGGGGAGAGTTTCTCCATACCCAGCACATGAGCATTCTCCTTTCACCTTGCCTGACCCCCAGCAACTGTCTTCAGCAACATTCCCCCTCTCGCCCCCATCTCTCCCCTAGCCACACTGGGCCTCCCTCACATCATGGCCATTTTGCCCCATCGTGGACTGCACCACTCCTATGTTTAGCCCCTGTGCTAGATCCCAGGCAAACAATGCATCAGGCACCGTGCTTCCTTCAGGAGCTTACAGTTTGCCTTAGCTTCTGATCCTAGACAAGTTATTCAACTTCTCTAAGCCTATTGATTATGAAAAGAGGGTAAGAATATAGGAGCATAGGATTCTTGGGAGTATTTGATGAGAAAATGGAGATGAGGGAACAGGCATAGTGATGCCCAAACATGGCCACACATTGGAATCACCTGGGGAAACTGAACCCCAGGTGCCACTTCTAGAGGTTCTGATTTAATAGGTATGGGATGTGGCCCAGGTACCAGGATTTTTCAAAGCTCTCCAGGTGACATGCACAGCCAAGTTTGAGAACTACAGTTCTAACATGACCTGTGCATTGTAATCTGTCACTCTTTGAGGGTCTCTGTCCAGCCTTTCTCCCTGCCACCGAGGGGGCCGACTCGAACCTCACCTGAAATACATAGTCCGCGCTGGTGAGCGTGTATTCTTTGCCTCCCAGGTGGAAAGAGATGTCGGGGAGTGTAGGGCCCTCGTTACACTTCACGACATACTGGGGTGGGGGGCAAAGAGAGCCTTCTTGAGTATGGAAGACGTCTCAGCAGACAAGGAGTCCTGCGCTGGTGGCCTGGTCTCTCTGCTGGAGAGGGCTGGGGACAGTGCCCCGCCCCATGGGTGACCAGCCACATGTGTGGAGAGTGTGAGGTGAACAAGCGAAGGCCTGAGATGGCCTCATTTGCCTGGGGGATTTGTGAGCCGATACCAGGTGGCGCTCCCCCCACCCACAGCACCTTCCCTCTTTGGCTTCTTACATCAAACAGCCTCTTCTTGGCTCCCAAGGCCTCCATGAGCTTCTCTATGGAGCTGGTAGAACCTGAGATGTAGGATGCACCGGTGTCTACCAATGCCAGGCAGCCGTCTTCACAGAGCAAGGTGGATGACCCCACAGACACCCTGGGGGAGGCCACAGTCAGACAGACAGACAGACAGACAGACAGAAGGCTGATGGGGCACCTCCAGGCTGCATGTCCTTCCTGAGTGTGGGTGGGTGGGTGGAGGCCACGCTGGTGGCCTGTTGAGGCAGTGAGTAGAGGAGGGAAGGTACTGTCACCCTCCACCACTTCTCCCCAGGCCCCTCCCTTCTCTGTTCCCCAGCCTGGACAGAGCAGGCAGAGAGCAAATGGTGGCTGTGCTTAAGAAGTGGCTGCATTTGGAAAGAGGGCAGGATGGTAATGCAGTCCTTCCCCACCCTCCCCAACCCCAGTGACGGCAGCATTTTTTGGAGCCCGGGGAGGGTTGAGGATTTCTGACCCCTTCATTTGAATCTGCCAGACACCAGTCTTGATGAGGTTGATATAGTGGAAATTCCCTTCGTAATGCTGGGGGTCGCTGCCTCCCAGCACAATCTGTCCTCCCAGCGATTGGGAATTCCTAAAGGAAAGATCAGAAGCTCTTGGAAACCCATAACCTCCAGGACCCAGCAACTCAGGCAATTGGGGAAGGTTGCACAAGGGTGCAGGGGAGGACAGAGGGCTCTAGAGCAGAGGAATGTGGGACAGACAGCCAGGCTCGGAGCTGTCGTTGGGAAGCATGCAGAACATACTGCTTCTCTGCCTTTCTTCCCCTCCCCAAGACCAACCAGAGGTTGTTCCAGGGTAGTCCAGCTGTTCCCCCAAAAAGCATCCCCAGAGAGGTCACAGAAAAGGAGCAGGTACAAGGACAGTGAGTGGATGTGAACAAGACACAAATGGACACCCCTCACTCTTGGGTTGCTGCTGATTGAGCAGGTGCATGGGAGGGGACCCTGGGGAGGCTATTGGGTATGGGGTGGGCAGGTGGCATGGAGAGAGCAGGAAGGAGAGACAGAGAACTTCGGCATCTAGCGGAGGCTGGGCTTGCTGATGTGAGTTTTGGGCCGGTGGCGTGTGTAATTCTAGGTCAGGTGCTCGGGGAGTACTGGAAGGTCACAGCCATGTGGGGGTTTTGTCTCCTTACTCGGAATCTCTGCAGAGAAAGAGAGACAGCAGAAAGGAAGCTTCATTTCATGCCAGCCTCATCAGCCCTGCTGTTTGGCAGGGTGGGTGTTATGTACTCTCTTTGCCCTTCAGGCAATGGAGTCACCAAGAGGCGAAGTCACTTGCCTGAAGTTACCCAGTCCATGAGTGAACAAGTGGGGGACTGGAGCCAGGCTCCTGGTGCCCCGTCTGGAGCTGATTCCCCTCACCTTCCTTTCCTCCTCACTGCACTTGGCTCAGGGACTACTGTAGGCCTAGTCTCCAGGGCATGCCTGTGTGTGTGATGTGTTTTTCCAGAATTCATACTAGAATTCACACATGCACATGTGTGCATGGGTGTGTAGGTGTGCATATGTTATTTTGTGCAACTGCAAACTACTTGTGTTTTTATAAATTCGGAATGTATGTGTATATGCTAGCACAAATTCCCTCCTGCCTGTCTCTCAACACTTCAGTATCTCTCTGGATGTTCCCTCCTTCCCATCCCAAGATAAAAGAAGAGGCCAGCCCTCTCCTCTGCAAAACCTGGCTTCTTCCTGTCTGCTGGAACCTCATCTCTTTCAAGGCCTCCAAACTCCAGTGCCCCCATTTAGCTCCTCTTCTTTCCACATTTTTAATCTCTTTCTTTCCATTGGCTTCTTCCTCCACCTACAGGCATCACTCGAGCATCCTCTAGCATTTAAAAACACCCACCCTTCCTCTTCTGCTTCTGGATCTCACCCCCCACGCCACCCCCCATTCCCTTCCCTGTTGAATGTCCCAGGGCAGCCTACATCTCATGACCTCCACTTCCTGACACCCACGTCGTCCACCTCTTAACTTCTTGCCATCTGGCCTTGCCCCCACTTCCTCTAAAACAGTTCTTCTAAAGACCACCCCTGAATGCAGAGCCGCCAATTGGCCTTTTCTCAAGGCCTCACTTTCTATCACCAAACCGGAGACTCCTCTCCATTTTACTGTGAGATTTCTCTGAACTCTGATCCTCTCCTCTATTCTTTTTGCC
|
TCTTGGGCAAGGCCTTCCATTCTCTGGGCCTCAGTTTCCCCACCTGTAAAGTGGAAGTATTGCCTGGATCTCTGGTGTTCTATGATTTTAGGTGGTAGTGCCTTAGAATGCCTGTGTAAATGGCTACATGGGGCAGGGCGGGGGCATCTGCAGTGGATAAGGACAGCTGAGGGGAGTTTTGCAGGGACAAGAGACAGGGCTGACTAGCTCAGCAGAGCAGAGTCTGAACTCAGAGCTGGCTTCTGTGAGCTGGGAGAACTTTCTGACCCACAGTCTACTGCCACAGCATTAGCCTTGGTCCCTGAGGGACTAGAGGGAGCTTGGTTCCGGCTCTTTTCAGACTTCCCACCTGAGGTTGTGTAAACAGCTCCACCTGAGTCCCGTTGATGGCAGATGGATGGCATCATCCCTGCACGCAAGAACCTGTGCGCTAGGCGAATGTGTAGCTTGTCTGTGTCACATTCCTGTCCACACATGATCACGCAGCCCCTCCCTCTGTTCTAAACCCTAGTGAACCCAGATGCAACAGGCTGTGAACATGAAGTCTTTATTCTCTTTGTCCTCAAAGCAGGGAAGGGCTGGTGCAGGGGTCAGGGCACGCATCCAGCAGGAGCTCCACATCCAATGTCTCCATCTGAGGGCATAAGCCCAGGCAGAGGGGCATCTCAGAGAGTGTTCCAGCTCTGGGCCAGGGCTGAAGGCAGGGCCTGCCTGGGTGGCAGAGGGCCTCAGCGGGCCAAGGCGAAGCCAATGCGGTTGTTACGCCGATCAAACTCTGTGTAGAACTTTCGGATGAAGGTGGCCCCCAGGGCCCAGGTGGGTCCAGTGGGTGGCGGGATATCCATGGCGTGGATGGCCAGTGTGCACAGCTTTTTACTACTGTAGGATTCCTGGCAGGAAGGGGGAGAGTTTCTCCATACCCAGCACATGAGCATTCTCCTTTCACCTTGCCTGACCCCCAGCAACTGTCTTCAGCAACATTCCCCCTCTCGCCCCCATCTCTCCCCTAGCCACACTGGGCCTCCCTCACATCATGGCCATTTTGCCCCATCGTGGACTGCACCACTCCTATGTTTAGCCCCTGTGCTAGATCCCAGGCAAACAATGCATCAGGCACCGTGCTTCCTTCAGGAGCTTACAGTTTGCCTTAGCTTCTGATCCTAGACAAGTTATTCAACTTCTCTAAGCCTATTGATTATGAAAAGAGGGTAAGAATATAGGAGCATAGGATTCTTGGGAGTATTTGATGAGAAAATGGAGATGAGGGAACAGGCATAGTGATGCCCAAACATGGCCACACATTGGAATCACCTGGGGAAACTGAACCCCAGGTGCCACTTCTAGAGGTTCTGATTTAATAGGTATGGGATGTGGCCCAGGTACCAGGATTTTTCAAAGCTCTCCAGGTGACATGCACAGCCAAGTTTGAGAACTACAGTTCTAACATGACCTGTGCATTGTAATCTGTCACTCTTTGAGGGTCTCTGTCCAGCCTTTCTCCCTGCCACCGAGGGGGCCGACTCGAACCTCACCTGAAATACATAGTCCGCGCTGGTGAGCGTGTATTCTTTGCCTCCCAGGTGGAAAGAGATGTCGGGGAGTGTAGGGCCCTCGTTACACTTCACGACATACTGGGGTGGGGGGCAAAGAGAGCCTTCTTGAGTATGGAAGACGTCTCAGCAGACAAGGAGTCCTGCGCTGGTGGCCTGGTCTCTCTGCTGGAGAGGGCTGGGGACAGTGCCCCGCCCCATGGGTGACCAGCCACATGTGTGGAGAGTGTGAGGTGAACAAGCGAAGGCCTGAGATGGCCTCATTTGCCTGGGGGATTTGTGAGCCGATACCAGGTGGCGCTCCCCCCACCCACAGCACCTTCCCTCTTTGGCTTCTTACATCAAACAGCCTCTTCTTGGCTCCCAAGGCCTCCATGAGCTTCTCTATGGAGCTGGTAGAACCTGAGATGTAGGATGCACCGGTGTCTACCAATGCCAGGCAGCCGTCTTCACAGAGCAAGGTGGATGACCCCACAGACACCCTGGGGGAGGCCACAGTCAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGAAGGCTGATGGGGCACCTCCAGGCTGCATGTCCTTCCTGAGTGTGGGTGGGTGGGTGGAGGCCACGCTGGTGGCCTGTTGAGGCAGTGAGTAGAGGAGGGAAGGTACTGTCACCCTCCACCACTTCTCCCCAGGCCCCTCCCTTCTCTGTTCCCCAGCCTGGACAGAGCAGGCAGAGAGCAAATGGTGGCTGTGCTTAAGAAGTGGCTGCATTTGGAAAGAGGGCAGGATGGTAATGCAGTCCTTCCCCACCCTCCCCAACCCCAGTGACGGCAGCATTTTTTGGAGCCCGGGGAGGGTTGAGGATTTCTGACCCCTTCATTTGAATCTGCCAGACACCAGTCTTGATGAGGTTGATATAGTGGAAATTCCCTTCGTAATGCTGGGGGTCGCTGCCTCCCAGCACAATCTGTCCTCCCAGCGATTGGGAATTCCTAAAGGAAAGATCAGAAGCTCTTGGAAACCCATAACCTCCAGGACCCAGCAACTCAGGCAATTGGGGAAGGTTGCACAAGGGTGCAGGGGAGGACAGAGGGCTCTAGAGCAGAGGAATGTGGGACAGACAGCCAGGCTCGGAGCTGTCGTTGGGAAGCATGCAGAACATACTGCTTCTCTGCCTTTCTTCCCCTCCCCAAGACCAACCAGAGGTTGTTCCAGGGTAGTCCAGCTGTTCCCCCAAAAAGCATCCCCAGAGAGGTCACAGAAAAGGAGCAGGTACAAGGACAGTGAGTGGATGTGAACAAGACACAAATGGACACCCCTCACTCTTGGGTTGCTGCTGATTGAGCAGGTGCATGGGAGGGGACCCTGGGGAGGCTATTGGGTATGGGGTGGGCAGGTGGCATGGAGAGAGCAGGAAGGAGAGACAGAGAACTTCGGCATCTAGCGGAGGCTGGGCTTGCTGATGTGAGTTTTGGGCCGGTGGCGTGTGTAATTCTAGGTCAGGTGCTCGGGGAGTACTGGAAGGTCACAGCCATGTGGGGGTTTTGTCTCCTTACTCGGAATCTCTGCAGAGAAAGAGAGACAGCAGAAAGGAAGCTTCATTTCATGCCAGCCTCATCAGCCCTGCTGTTTGGCAGGGTGGGTGTTATGTACTCTCTTTGCCCTTCAGGCAATGGAGTCACCAAGAGGCGAAGTCACTTGCCTGAAGTTACCCAGTCCATGAGTGAACAAGTGGGGGACTGGAGCCAGGCTCCTGGTGCCCCGTCTGGAGCTGATTCCCCTCACCTTCCTTTCCTCCTCACTGCACTTGGCTCAGGGACTACTGTAGGCCTAGTCTCCAGGGCATGCCTGTGTGTGTGATGTGTTTTTCCAGAATTCATACTAGAATTCACACATGCACATGTGTGCATGGGTGTGTAGGTGTGCATATGTTATTTTGTGCAACTGCAAACTACTTGTGTTTTTATAAATTCGGAATGTATGTGTATATGCTAGCACAAATTCCCTCCTGCCTGTCTCTCAACACTTCAGTATCTCTCTGGATGTTCCCTCCTTCCCATCCCAAGATAAAAGAAGAGGCCAGCCCTCTCCTCTGCAAAACCTGGCTTCTTCCTGTCTGCTGGAACCTCATCTCTTTCAAGGCCTCCAAACTCCAGTGCCCCCATTTAGCTCCTCTTCTTTCCACATTTTTAATCTCTTTCTTTCCATTGGCTTCTTCCTCCACCTACAGGCATCACTCGAGCATCCTCTAGCATTTAAAAACACCCACCCTTCCTCTTCTGCTTCTGGATCTCACCCCCCACGCCACCCCCCATTCCCTTCCCTGTTGAATGTCCCAGGGCAGCCTACATCTCATGACCTCCACTTCCTGACACCCACGTCGTCCACCTCTTAACTTCTTGCCATCTGGCCTTGCCCCCACTTCCTCTAAAACAGTTCTTCTAAAGACCACCCCTGAATGCAGAGCCGCCAATTGGCCTTTTCTCAAGGCCTCACTTTCTATCACCAAACCGGAGACTCCTCTCCATTTTACTGTGAGATTTCTCTGAACTCTGATCCTCTC
|
benign
| 20,845
|
Clinically, how would you classify the variant at chromosome 1, position 204156336, gene REN (renin): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
benign
|
TCTTGGGCAAGGCCTTCCATTCTCTGGGCCTCAGTTTCCCCACCTGTAAAGTGGAAGTATTGCCTGGATCTCTGGTGTTCTATGATTTTAGGTGGTAGTGCCTTAGAATGCCTGTGTAAATGGCTACATGGGGCAGGGCGGGGGCATCTGCAGTGGATAAGGACAGCTGAGGGGAGTTTTGCAGGGACAAGAGACAGGGCTGACTAGCTCAGCAGAGCAGAGTCTGAACTCAGAGCTGGCTTCTGTGAGCTGGGAGAACTTTCTGACCCACAGTCTACTGCCACAGCATTAGCCTTGGTCCCTGAGGGACTAGAGGGAGCTTGGTTCCGGCTCTTTTCAGACTTCCCACCTGAGGTTGTGTAAACAGCTCCACCTGAGTCCCGTTGATGGCAGATGGATGGCATCATCCCTGCACGCAAGAACCTGTGCGCTAGGCGAATGTGTAGCTTGTCTGTGTCACATTCCTGTCCACACATGATCACGCAGCCCCTCCCTCTGTTCTAAACCCTAGTGAACCCAGATGCAACAGGCTGTGAACATGAAGTCTTTATTCTCTTTGTCCTCAAAGCAGGGAAGGGCTGGTGCAGGGGTCAGGGCACGCATCCAGCAGGAGCTCCACATCCAATGTCTCCATCTGAGGGCATAAGCCCAGGCAGAGGGGCATCTCAGAGAGTGTTCCAGCTCTGGGCCAGGGCTGAAGGCAGGGCCTGCCTGGGTGGCAGAGGGCCTCAGCGGGCCAAGGCGAAGCCAATGCGGTTGTTACGCCGATCAAACTCTGTGTAGAACTTTCGGATGAAGGTGGCCCCCAGGGCCCAGGTGGGTCCAGTGGGTGGCGGGATATCCATGGCGTGGATGGCCAGTGTGCACAGCTTTTTACTACTGTAGGATTCCTGGCAGGAAGGGGGAGAGTTTCTCCATACCCAGCACATGAGCATTCTCCTTTCACCTTGCCTGACCCCCAGCAACTGTCTTCAGCAACATTCCCCCTCTCGCCCCCATCTCTCCCCTAGCCACACTGGGCCTCCCTCACATCATGGCCATTTTGCCCCATCGTGGACTGCACCACTCCTATGTTTAGCCCCTGTGCTAGATCCCAGGCAAACAATGCATCAGGCACCGTGCTTCCTTCAGGAGCTTACAGTTTGCCTTAGCTTCTGATCCTAGACAAGTTATTCAACTTCTCTAAGCCTATTGATTATGAAAAGAGGGTAAGAATATAGGAGCATAGGATTCTTGGGAGTATTTGATGAGAAAATGGAGATGAGGGAACAGGCATAGTGATGCCCAAACATGGCCACACATTGGAATCACCTGGGGAAACTGAACCCCAGGTGCCACTTCTAGAGGTTCTGATTTAATAGGTATGGGATGTGGCCCAGGTACCAGGATTTTTCAAAGCTCTCCAGGTGACATGCACAGCCAAGTTTGAGAACTACAGTTCTAACATGACCTGTGCATTGTAATCTGTCACTCTTTGAGGGTCTCTGTCCAGCCTTTCTCCCTGCCACCGAGGGGGCCGACTCGAACCTCACCTGAAATACATAGTCCGCGCTGGTGAGCGTGTATTCTTTGCCTCCCAGGTGGAAAGAGATGTCGGGGAGTGTAGGGCCCTCGTTACACTTCACGACATACTGGGGTGGGGGGCAAAGAGAGCCTTCTTGAGTATGGAAGACGTCTCAGCAGACAAGGAGTCCTGCGCTGGTGGCCTGGTCTCTCTGCTGGAGAGGGCTGGGGACAGTGCCCCGCCCCATGGGTGACCAGCCACATGTGTGGAGAGTGTGAGGTGAACAAGCGAAGGCCTGAGATGGCCTCATTTGCCTGGGGGATTTGTGAGCCGATACCAGGTGGCGCTCCCCCCACCCACAGCACCTTCCCTCTTTGGCTTCTTACATCAAACAGCCTCTTCTTGGCTCCCAAGGCCTCCATGAGCTTCTCTATGGAGCTGGTAGAACCTGAGATGTAGGATGCACCGGTGTCTACCAATGCCAGGCAGCCGTCTTCACAGAGCAAGGTGGATGACCCCACAGACACCCTGGGGGAGGCCACAGTCAGACAGACAGACAGACAGACAGACAGAAGGCTGATGGGGCACCTCCAGGCTGCATGTCCTTCCTGAGTGTGGGTGGGTGGGTGGAGGCCACGCTGGTGGCCTGTTGAGGCAGTGAGTAGAGGAGGGAAGGTACTGTCACCCTCCACCACTTCTCCCCAGGCCCCTCCCTTCTCTGTTCCCCAGCCTGGACAGAGCAGGCAGAGAGCAAATGGTGGCTGTGCTTAAGAAGTGGCTGCATTTGGAAAGAGGGCAGGATGGTAATGCAGTCCTTCCCCACCCTCCCCAACCCCAGTGACGGCAGCATTTTTTGGAGCCCGGGGAGGGTTGAGGATTTCTGACCCCTTCATTTGAATCTGCCAGACACCAGTCTTGATGAGGTTGATATAGTGGAAATTCCCTTCGTAATGCTGGGGGTCGCTGCCTCCCAGCACAATCTGTCCTCCCAGCGATTGGGAATTCCTAAAGGAAAGATCAGAAGCTCTTGGAAACCCATAACCTCCAGGACCCAGCAACTCAGGCAATTGGGGAAGGTTGCACAAGGGTGCAGGGGAGGACAGAGGGCTCTAGAGCAGAGGAATGTGGGACAGACAGCCAGGCTCGGAGCTGTCGTTGGGAAGCATGCAGAACATACTGCTTCTCTGCCTTTCTTCCCCTCCCCAAGACCAACCAGAGGTTGTTCCAGGGTAGTCCAGCTGTTCCCCCAAAAAGCATCCCCAGAGAGGTCACAGAAAAGGAGCAGGTACAAGGACAGTGAGTGGATGTGAACAAGACACAAATGGACACCCCTCACTCTTGGGTTGCTGCTGATTGAGCAGGTGCATGGGAGGGGACCCTGGGGAGGCTATTGGGTATGGGGTGGGCAGGTGGCATGGAGAGAGCAGGAAGGAGAGACAGAGAACTTCGGCATCTAGCGGAGGCTGGGCTTGCTGATGTGAGTTTTGGGCCGGTGGCGTGTGTAATTCTAGGTCAGGTGCTCGGGGAGTACTGGAAGGTCACAGCCATGTGGGGGTTTTGTCTCCTTACTCGGAATCTCTGCAGAGAAAGAGAGACAGCAGAAAGGAAGCTTCATTTCATGCCAGCCTCATCAGCCCTGCTGTTTGGCAGGGTGGGTGTTATGTACTCTCTTTGCCCTTCAGGCAATGGAGTCACCAAGAGGCGAAGTCACTTGCCTGAAGTTACCCAGTCCATGAGTGAACAAGTGGGGGACTGGAGCCAGGCTCCTGGTGCCCCGTCTGGAGCTGATTCCCCTCACCTTCCTTTCCTCCTCACTGCACTTGGCTCAGGGACTACTGTAGGCCTAGTCTCCAGGGCATGCCTGTGTGTGTGATGTGTTTTTCCAGAATTCATACTAGAATTCACACATGCACATGTGTGCATGGGTGTGTAGGTGTGCATATGTTATTTTGTGCAACTGCAAACTACTTGTGTTTTTATAAATTCGGAATGTATGTGTATATGCTAGCACAAATTCCCTCCTGCCTGTCTCTCAACACTTCAGTATCTCTCTGGATGTTCCCTCCTTCCCATCCCAAGATAAAAGAAGAGGCCAGCCCTCTCCTCTGCAAAACCTGGCTTCTTCCTGTCTGCTGGAACCTCATCTCTTTCAAGGCCTCCAAACTCCAGTGCCCCCATTTAGCTCCTCTTCTTTCCACATTTTTAATCTCTTTCTTTCCATTGGCTTCTTCCTCCACCTACAGGCATCACTCGAGCATCCTCTAGCATTTAAAAACACCCACCCTTCCTCTTCTGCTTCTGGATCTCACCCCCCACGCCACCCCCCATTCCCTTCCCTGTTGAATGTCCCAGGGCAGCCTACATCTCATGACCTCCACTTCCTGACACCCACGTCGTCCACCTCTTAACTTCTTGCCATCTGGCCTTGCCCCCACTTCCTCTAAAACAGTTCTTCTAAAGACCACCCCTGAATGCAGAGCCGCCAATTGGCCTTTTCTCAAGGCCTCACTTTCTATCACCAAACCGGAGACTCCTCTCCATTTTACTGTGAGATTTCTCTGAACTCTGATCCTCTCCTCTATTCTTTTTGCC
|
TCTTGGGCAAGGCCTTCCATTCTCTGGGCCTCAGTTTCCCCACCTGTAAAGTGGAAGTATTGCCTGGATCTCTGGTGTTCTATGATTTTAGGTGGTAGTGCCTTAGAATGCCTGTGTAAATGGCTACATGGGGCAGGGCGGGGGCATCTGCAGTGGATAAGGACAGCTGAGGGGAGTTTTGCAGGGACAAGAGACAGGGCTGACTAGCTCAGCAGAGCAGAGTCTGAACTCAGAGCTGGCTTCTGTGAGCTGGGAGAACTTTCTGACCCACAGTCTACTGCCACAGCATTAGCCTTGGTCCCTGAGGGACTAGAGGGAGCTTGGTTCCGGCTCTTTTCAGACTTCCCACCTGAGGTTGTGTAAACAGCTCCACCTGAGTCCCGTTGATGGCAGATGGATGGCATCATCCCTGCACGCAAGAACCTGTGCGCTAGGCGAATGTGTAGCTTGTCTGTGTCACATTCCTGTCCACACATGATCACGCAGCCCCTCCCTCTGTTCTAAACCCTAGTGAACCCAGATGCAACAGGCTGTGAACATGAAGTCTTTATTCTCTTTGTCCTCAAAGCAGGGAAGGGCTGGTGCAGGGGTCAGGGCACGCATCCAGCAGGAGCTCCACATCCAATGTCTCCATCTGAGGGCATAAGCCCAGGCAGAGGGGCATCTCAGAGAGTGTTCCAGCTCTGGGCCAGGGCTGAAGGCAGGGCCTGCCTGGGTGGCAGAGGGCCTCAGCGGGCCAAGGCGAAGCCAATGCGGTTGTTACGCCGATCAAACTCTGTGTAGAACTTTCGGATGAAGGTGGCCCCCAGGGCCCAGGTGGGTCCAGTGGGTGGCGGGATATCCATGGCGTGGATGGCCAGTGTGCACAGCTTTTTACTACTGTAGGATTCCTGGCAGGAAGGGGGAGAGTTTCTCCATACCCAGCACATGAGCATTCTCCTTTCACCTTGCCTGACCCCCAGCAACTGTCTTCAGCAACATTCCCCCTCTCGCCCCCATCTCTCCCCTAGCCACACTGGGCCTCCCTCACATCATGGCCATTTTGCCCCATCGTGGACTGCACCACTCCTATGTTTAGCCCCTGTGCTAGATCCCAGGCAAACAATGCATCAGGCACCGTGCTTCCTTCAGGAGCTTACAGTTTGCCTTAGCTTCTGATCCTAGACAAGTTATTCAACTTCTCTAAGCCTATTGATTATGAAAAGAGGGTAAGAATATAGGAGCATAGGATTCTTGGGAGTATTTGATGAGAAAATGGAGATGAGGGAACAGGCATAGTGATGCCCAAACATGGCCACACATTGGAATCACCTGGGGAAACTGAACCCCAGGTGCCACTTCTAGAGGTTCTGATTTAATAGGTATGGGATGTGGCCCAGGTACCAGGATTTTTCAAAGCTCTCCAGGTGACATGCACAGCCAAGTTTGAGAACTACAGTTCTAACATGACCTGTGCATTGTAATCTGTCACTCTTTGAGGGTCTCTGTCCAGCCTTTCTCCCTGCCACCGAGGGGGCCGACTCGAACCTCACCTGAAATACATAGTCCGCGCTGGTGAGCGTGTATTCTTTGCCTCCCAGGTGGAAAGAGATGTCGGGGAGTGTAGGGCCCTCGTTACACTTCACGACATACTGGGGTGGGGGGCAAAGAGAGCCTTCTTGAGTATGGAAGACGTCTCAGCAGACAAGGAGTCCTGCGCTGGTGGCCTGGTCTCTCTGCTGGAGAGGGCTGGGGACAGTGCCCCGCCCCATGGGTGACCAGCCACATGTGTGGAGAGTGTGAGGTGAACAAGCGAAGGCCTGAGATGGCCTCATTTGCCTGGGGGATTTGTGAGCCGATACCAGGTGGCGCTCCCCCCACCCACAGCACCTTCCCTCTTTGGCTTCTTACATCAAACAGCCTCTTCTTGGCTCCCAAGGCCTCCATGAGCTTCTCTATGGAGCTGGTAGAACCTGAGATGTAGGATGCACCGGTGTCTACCAATGCCAGGCAGCCGTCTTCACAGAGCAAGGTGGATGACCCCACAGACACCCTGGGGGAGGCCACAGTCAGACAGACAGACAGACAGACAGAAGGCTGATGGGGCACCTCCAGGCTGCATGTCCTTCCTGAGTGTGGGTGGGTGGGTGGAGGCCACGCTGGTGGCCTGTTGAGGCAGTGAGTAGAGGAGGGAAGGTACTGTCACCCTCCACCACTTCTCCCCAGGCCCCTCCCTTCTCTGTTCCCCAGCCTGGACAGAGCAGGCAGAGAGCAAATGGTGGCTGTGCTTAAGAAGTGGCTGCATTTGGAAAGAGGGCAGGATGGTAATGCAGTCCTTCCCCACCCTCCCCAACCCCAGTGACGGCAGCATTTTTTGGAGCCCGGGGAGGGTTGAGGATTTCTGACCCCTTCATTTGAATCTGCCAGACACCAGTCTTGATGAGGTTGATATAGTGGAAATTCCCTTCGTAATGCTGGGGGTCGCTGCCTCCCAGCACAATCTGTCCTCCCAGCGATTGGGAATTCCTAAAGGAAAGATCAGAAGCTCTTGGAAACCCATAACCTCCAGGACCCAGCAACTCAGGCAATTGGGGAAGGTTGCACAAGGGTGCAGGGGAGGACAGAGGGCTCTAGAGCAGAGGAATGTGGGACAGACAGCCAGGCTCGGAGCTGTCGTTGGGAAGCATGCAGAACATACTGCTTCTCTGCCTTTCTTCCCCTCCCCAAGACCAACCAGAGGTTGTTCCAGGGTAGTCCAGCTGTTCCCCCAAAAAGCATCCCCAGAGAGGTCACAGAAAAGGAGCAGGTACAAGGACAGTGAGTGGATGTGAACAAGACACAAATGGACACCCCTCACTCTTGGGTTGCTGCTGATTGAGCAGGTGCATGGGAGGGGACCCTGGGGAGGCTATTGGGTATGGGGTGGGCAGGTGGCATGGAGAGAGCAGGAAGGAGAGACAGAGAACTTCGGCATCTAGCGGAGGCTGGGCTTGCTGATGTGAGTTTTGGGCCGGTGGCGTGTGTAATTCTAGGTCAGGTGCTCGGGGAGTACTGGAAGGTCACAGCCATGTGGGGGTTTTGTCTCCTTACTCGGAATCTCTGCAGAGAAAGAGAGACAGCAGAAAGGAAGCTTCATTTCATGCCAGCCTCATCAGCCCTGCTGTTTGGCAGGGTGGGTGTTATGTACTCTCTTTGCCCTTCAGGCAATGGAGTCACCAAGAGGCGAAGTCACTTGCCTGAAGTTACCCAGTCCATGAGTGAACAAGTGGGGGACTGGAGCCAGGCTCCTGGTGCCCCGTCTGGAGCTGATTCCCCTCACCTTCCTTTCCTCCTCACTGCACTTGGCTCAGGGACTACTGTAGGCCTAGTCTCCAGGGCATGCCTGTGTGTGTGATGTGTTTTTCCAGAATTCATACTAGAATTCACACATGCACATGTGTGCATGGGTGTGTAGGTGTGCATATGTTATTTTGTGCAACTGCAAACTACTTGTGTTTTTATAAATTCGGAATGTATGTGTATATGCTAGCACAAATTCCCTCCTGCCTGTCTCTCAACACTTCAGTATCTCTCTGGATGTTCCCTCCTTCCCATCCCAAGATAAAAGAAGAGGCCAGCCCTCTCCTCTGCAAAACCTGGCTTCTTCCTGTCTGCTGGAACCTCATCTCTTTCAAGGCCTCCAAACTCCAGTGCCCCCATTTAGCTCCTCTTCTTTCCACATTTTTAATCTCTTTCTTTCCATTGGCTTCTTCCTCCACCTACAGGCATCACTCGAGCATCCTCTAGCATTTAAAAACACCCACCCTTCCTCTTCTGCTTCTGGATCTCACCCCCCACGCCACCCCCCATTCCCTTCCCTGTTGAATGTCCCAGGGCAGCCTACATCTCATGACCTCCACTTCCTGACACCCACGTCGTCCACCTCTTAACTTCTTGCCATCTGGCCTTGCCCCCACTTCCTCTAAAACAGTTCTTCTAAAGACCACCCCTGAATGCAGAGCCGCCAATTGGCCTTTTCTCAAGGCCTCACTTTCTATCACCAAACCGGAGACTCCTCTCCATTTTACTGTGAGATTTCTCTGAACTCTGATCCTCTCCTCTATTCTTTTTGCCNNNN
|
benign
| 20,846
|
Does the variant on chromosome 1 at location 204166246 affecting gene REN have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Familial_juvenile_hyperuricemic_nephropathy_type_2', 'Renal_tubular_dysgenesis_of_genetic_origin']
|
CCATCCTCTTACCCAGTGCTCACAACCCAGCAATTACTCTCCGAGAGCCTCAGAGCAAGGGAAAGCAGTTTCGGAAGCAAAAGGCCCAGTGTGTGTTGAGGCTTAGCCTCTTACATATCACCTCCCTGAGCCTCAGTGTCCTCATCTGCAAAGTGGGAATGCTGAGTTGTTGGGGGCATGACTTGAGATGAGACATGTGAAAAGATCCTGTGACACCCTAAGCATTTTATAGGCTTAGCAACTATTACCATTATTAAAGTGTGCCTCCCTACCTTCAGGACTGCTGGTCATATCTGCTGTCCCCAGATTGAAAACCCCTTTCTCTGTGAGGCCTTTTCTCAAATGCTGTCTCTTCCCCTTCTTCAGTCTTTTTTTTTTTTTTTTTTTTTTTTACATAAGGTCTGGCTCTATCACCCAGGCTAGAGCACAGTGGGTCAGTCTCTGCTCACTGCAGCCTCCACCTCCCAGGCTGAAGTGATGCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGATTTGCACCACCACACCTAGCTAATTTTTGTATTTGTACAGACAAGGTTTCACCATGTTGCCTAGGCTGGTCTTGAACTCGTGAGCTCAAGCGATCTGCCCACCTCAGCCTCTCAAAGTGCTGGAATTACAAGCATGAGCCGCGTGCCCAGCTTCCTTCTACAGTCTTAATGAATCACTTGTTCCCACAAGGCCTGGCACCTAGGGGATGCTAAGGTTTTCTCCTTCTAATTGTGGGCTACCTAAAGCCTTGTTTTTTTCTTTCTTTTTTTTTTTTAGACTGAGTTTTGCTCTTGTTGACCAGGCTGGAGTGCAATGGCGCTATGTCGGCTCACTGCAACCTCAGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCGGGTGATCTGCCCCCCTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCCACTGCTCCCGGCCAAACCTTGCTTTTGATATTTGTAAGAATCTATCCTGTAGTACTAACAGTAGCTGGGCTCTTACAACGTGCCCAGCTTTCTATGCCTTATCTCCTAAAATCCCCAAAGCAGCCCCATCAAGTAGGTACTGTTATTATCATACCTGTTTAAAATGATAAACTGAGACTTGGAGAGGTTAAATAACTTGCCCATGATTCCAGACCTAGTTTGTTCTGCTAGTGAAGCAAAATTTAAATGAAGGCAATCTAACTCTATAAGCCTTGCATTTAACCACGATATCAAGCTGCTTCCCTGGTACAGTTAACTGTACCCATGCCCCGACCCCCGTCTTTTTTTTTTTTGAGATGGAGTCTTGTTCTGTCACTCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCAGCAATCTCCACCTTCCGGGCTCAAACGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGGATTACAAGTGCCTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAGGAGCCACCGCGCCCAACCACCCATGCCCTTCTTAATATTCAGGCTGTGAGCTCCTCAAGTGCAAGGGGCATGTCCTAATACTTCTGAGTTCTCTACAGTGCTTAGTTAGCATGGTGCTCTGGGCAGGAAGCAAAAGTCACAGCTTCTAGACCTGACTACTAGTGTCATTTATTGGGCAAGTCACTTGACCTCTCTGAACAGGTCCATACTTCCCTGTCCAGCTGATCGTAAGGACTGAATGACACCGCATGTGGAAAAGCCAGGGTGTTGGGAAGGTGGGAACCCTGCACCCCTCCCACCCCTTCTCTGCCTGAGTTACCAATTACCGTTTAAAGGTGGTGGTGTCTGTCGGGAGACCAAAGGTACAGGAGCCCCAGAGCAGCAGCAGCAGTCCCCAGCGAGGCATCCTTCTCCATCCATCCATGCTTCCCTCAGTCTGGGGCTCTCTCTGAGATCCACTGAGGTTCTGTGGCTCCCTTAGCCCTTCCCCTTTTATACACTCCATGCATGGGGTGATTGCAATTCTGCTCTGCCCTGATTTATTACCCTGGGGTAGATGGCAGGGCAGTCAGCAATAAATCTCACTGCGGGACAGAGCTAGGTGGGTGAAGGGTACCCAGGTTTCCGGATGGGGAGCAGAGGGGCTGGAGGAAGGACAGCTGTGGGAAAGCAATCTTGTGTCCAGTGACGCTAGCAGCCCTCTATCTGGCTTGGCCCTGTGACCCCTGGAGCAGGCAGAGGCTGATGAGAAACAGCACTGCTCAGGGCTAACATCAAAACTGGGACAAGCGTAAAACCTAGGTTTCCAGCTCCCTAGCCCAGACCCAACCCCTATACCCTGGAAGCTCCATTCTCTATATTAACTTTGGCTTTGTCCCTGACTGGCCTCTCCCAGGCTACAGCCCAGTTTTCCCATCTAGAACATGGGTGAATCTTCATGACTGGTTTCTTGGCAGGAAAAGCAACAGCTGGTTTAATTATAAGAGTAGAGGGGCCAGGCATGGTGGCTCACACCTGTCCCAGCACTTTGGGAGGCCAAGGTGGGTAGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGACCAACAATGGTGAAACCCCATCTCCACTAAACTACAAAAATTAGCTGGGTGTGGTGATGGACACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAAGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCGGCCTGGGCAATAAGAGTGAAATTCCATCTCAAAAAAGAAAGAGAGTGGAGGGAGACTTAGCATGACTGACTCCATTTTGCCTCTGACCCCCAGGGGTATTATCCTTTAGGCTAAAAGCTTCTGCTTAGCTCTGTACATAGACCAGCTAATTATAGGAGTTTAGCTTGCAGTTCAACTTTAAAAAAAATGGTAACAGTTCCTTTCCCCAAACTAACCCCCAAGGAGATAAGGAAATATACAGACAAATAACAATGTTATGTTAAAGATGTATAGGAACATTGTGACCTGACCTAGAAAAAAGAAGTTTTACAACGTCCTCAGACCCTTGCTGGCACCCAGGTGTCTGTGGTCATCAGTCACCTCTTGATCCCAATCCCCTTCTTCTTCCCCTTCCCTTAACATAAAGAAGAGCCTAACGTTCATGCTGACTTCAGATGGTTCTTTATGATGCTGGTCCACCATCTTCTTGGTTTTCTGGTTCTCTGAATAAGGTAGCTTTCCTTGCCACAATACCTTGTCTCTAGACTTATTGGCTGTTGTGTGGCAAGTGATACGAGCTTGGACTCAGCTACTCATAGCCTTGAACAGTCTTTCTGTGTCTGATTACATTCAAGTATTGTTTTCATCAGGTTTGACTTACAGGTTATCTAAATGGGCTTCCCATAAGAAGAAGCAATCACACTACAGAAAGTTTTTCTTTGCGTTTTTGGTAGCTGGCCTAAGAAACAATTATTTTAGGCTGGGAAACAGTGGCTCATGCCTGTAATCCTAGTGCTTTGGGAGGATGAGGTAGGAGGCTCACGCTCACTTGAAGCTCGTTCAAGACCAGCCAGGGCAATATAGCAAGACCCCATCTCTGAAAAAAATTAGCTGGGTGTGGTGGTGCGTGCCTGTAGTCTTAGCTACTGGGGAGGCTGAGGCGGGAGGATCACTTGAGTCCAGGAGTTCAAGGCTGTAGTGAGCTATGATTGTGCCACTGCACTTTAGCCTGGATGACAGAGTGAGACCCTGTCTCAAAAAATAAAAGGAAAGATTTTACATTTTCTCAAGATAATTCCTCATTCTTGTTATCTTTATCAGGTTTTTGATTACTTAGGAAAACTGAGCTTTAGAAAGGTTAAGTCTTTATATTCATGTAACTTTCTGTATTGCTATTAAAGTCTTTTAATTATCACTTTTGTG
|
CCATCCTCTTACCCAGTGCTCACAACCCAGCAATTACTCTCCGAGAGCCTCAGAGCAAGGGAAAGCAGTTTCGGAAGCAAAAGGCCCAGTGTGTGTTGAGGCTTAGCCTCTTACATATCACCTCCCTGAGCCTCAGTGTCCTCATCTGCAAAGTGGGAATGCTGAGTTGTTGGGGGCATGACTTGAGATGAGACATGTGAAAAGATCCTGTGACACCCTAAGCATTTTATAGGCTTAGCAACTATTACCATTATTAAAGTGTGCCTCCCTACCTTCAGGACTGCTGGTCATATCTGCTGTCCCCAGATTGAAAACCCCTTTCTCTGTGAGGCCTTTTCTCAAATGCTGTCTCTTCCCCTTCTTCAGTCTTTTTTTTTTTTTTTTTTTTTTTTACATAAGGTCTGGCTCTATCACCCAGGCTAGAGCACAGTGGGTCAGTCTCTGCTCACTGCAGCCTCCACCTCCCAGGCTGAAGTGATGCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGATTTGCACCACCACACCTAGCTAATTTTTGTATTTGTACAGACAAGGTTTCACCATGTTGCCTAGGCTGGTCTTGAACTCGTGAGCTCAAGCGATCTGCCCACCTCAGCCTCTCAAAGTGCTGGAATTACAAGCATGAGCCGCGTGCCCAGCTTCCTTCTACAGTCTTAATGAATCACTTGTTCCCACAAGGCCTGGCACCTAGGGGATGCTAAGGTTTTCTCCTTCTAATTGTGGGCTACCTAAAGCCTTGTTTTTTTCTTTCTTTTTTTTTTTTAGACTGAGTTTTGCTCTTGTTGACCAGGCTGGAGTGCAATGGCGCTATGTCGGCTCACTGCAACCTCAGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCGGGTGATCTGCCCCCCTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCCACTGCTCCCGGCCAAACCTTGCTTTTGATATTTGTAAGAATCTATCCTGTAGTACTAACAGTAGCTGGGCTCTTACAACGTGCCCAGCTTTCTATGCCTTATCTCCTAAAATCCCCAAAGCAGCCCCATCAAGTAGGTACTGTTATTATCATACCTGTTTAAAATGATAAACTGAGACTTGGAGAGGTTAAATAACTTGCCCATGATTCCAGACCTAGTTTGTTCTGCTAGTGAAGCAAAATTTAAATGAAGGCAATCTAACTCTATAAGCCTTGCATTTAACCACGATATCAAGCTGCTTCCCTGGTACAGTTAACTGTACCCATGCCCCGACCCCCGTCTTTTTTTTTTTTGAGATGGAGTCTTGTTCTGTCACTCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCAGCAATCTCCACCTTCCGGGCTCAAACGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGGATTACAAGTGCCTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAGGAGCCACCGCGCCCAACCACCCATGCCCTTCTTAATATTCAGGCTGTGAGCTCCTCAAGTGCAAGGGGCATGTCCTAATACTTCTGAGTTCTCTACAGTGCTTAGTTAGCATGGTGCTCTGGGCAGGAAGCAAAAGTCACAGCTTCTAGACCTGACTACTAGTGTCATTTATTGGGCAAGTCACTTGACCTCTCTGAACAGGTCCATACTTCCCTGTCCAGCTGATCGTAAGGACTGAATGACACCGCATGTGGAAAAGCCAGGGTGTTGGGAAGGTGGGAACCCTGCACCCCTCCCACCCCTTCTCTGCCTGAGTTACCAATTACCGTTTAAAGGTGGTGGTGTCTGTCGGGAGACCAAAGGTACAGGAGCCCCAGAGCAGCAGCAGTCCCCAGCGAGGCATCCTTCTCCATCCATCCATGCTTCCCTCAGTCTGGGGCTCTCTCTGAGATCCACTGAGGTTCTGTGGCTCCCTTAGCCCTTCCCCTTTTATACACTCCATGCATGGGGTGATTGCAATTCTGCTCTGCCCTGATTTATTACCCTGGGGTAGATGGCAGGGCAGTCAGCAATAAATCTCACTGCGGGACAGAGCTAGGTGGGTGAAGGGTACCCAGGTTTCCGGATGGGGAGCAGAGGGGCTGGAGGAAGGACAGCTGTGGGAAAGCAATCTTGTGTCCAGTGACGCTAGCAGCCCTCTATCTGGCTTGGCCCTGTGACCCCTGGAGCAGGCAGAGGCTGATGAGAAACAGCACTGCTCAGGGCTAACATCAAAACTGGGACAAGCGTAAAACCTAGGTTTCCAGCTCCCTAGCCCAGACCCAACCCCTATACCCTGGAAGCTCCATTCTCTATATTAACTTTGGCTTTGTCCCTGACTGGCCTCTCCCAGGCTACAGCCCAGTTTTCCCATCTAGAACATGGGTGAATCTTCATGACTGGTTTCTTGGCAGGAAAAGCAACAGCTGGTTTAATTATAAGAGTAGAGGGGCCAGGCATGGTGGCTCACACCTGTCCCAGCACTTTGGGAGGCCAAGGTGGGTAGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGACCAACAATGGTGAAACCCCATCTCCACTAAACTACAAAAATTAGCTGGGTGTGGTGATGGACACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAAGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCGGCCTGGGCAATAAGAGTGAAATTCCATCTCAAAAAAGAAAGAGAGTGGAGGGAGACTTAGCATGACTGACTCCATTTTGCCTCTGACCCCCAGGGGTATTATCCTTTAGGCTAAAAGCTTCTGCTTAGCTCTGTACATAGACCAGCTAATTATAGGAGTTTAGCTTGCAGTTCAACTTTAAAAAAAATGGTAACAGTTCCTTTCCCCAAACTAACCCCCAAGGAGATAAGGAAATATACAGACAAATAACAATGTTATGTTAAAGATGTATAGGAACATTGTGACCTGACCTAGAAAAAAGAAGTTTTACAACGTCCTCAGACCCTTGCTGGCACCCAGGTGTCTGTGGTCATCAGTCACCTCTTGATCCCAATCCCCTTCTTCTTCCCCTTCCCTTAACATAAAGAAGAGCCTAACGTTCATGCTGACTTCAGATGGTTCTTTATGATGCTGGTCCACCATCTTCTTGGTTTTCTGGTTCTCTGAATAAGGTAGCTTTCCTTGCCACAATACCTTGTCTCTAGACTTATTGGCTGTTGTGTGGCAAGTGATACGAGCTTGGACTCAGCTACTCATAGCCTTGAACAGTCTTTCTGTGTCTGATTACATTCAAGTATTGTTTTCATCAGGTTTGACTTACAGGTTATCTAAATGGGCTTCCCATAAGAAGAAGCAATCACACTACAGAAAGTTTTTCTTTGCGTTTTTGGTAGCTGGCCTAAGAAACAATTATTTTAGGCTGGGAAACAGTGGCTCATGCCTGTAATCCTAGTGCTTTGGGAGGATGAGGTAGGAGGCTCACGCTCACTTGAAGCTCGTTCAAGACCAGCCAGGGCAATATAGCAAGACCCCATCTCTGAAAAAAATTAGCTGGGTGTGGTGGTGCGTGCCTGTAGTCTTAGCTACTGGGGAGGCTGAGGCGGGAGGATCACTTGAGTCCAGGAGTTCAAGGCTGTAGTGAGCTATGATTGTGCCACTGCACTTTAGCCTGGATGACAGAGTGAGACCCTGTCTCAAAAAATAAAAGGAAAGATTTTACATTTTCTCAAGATAATTCCTCATTCTTGTTATCTTTATCAGGTTTTTGATTACTTAGGAAAACTGAGCTTTAGAAAGGTTAAGTCTTTATATTCATGTAACTTTCTGTATTGCTATTAAAGTCTTTTAATTATCACTTTTGTGNNN
|
pathogenic
| 20,859
|
Does the variant on chromosome 1 at location 207468671 affecting gene CR2 (complement C3d receptor 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Immunodeficiency,_common_variable,_7']
|
AGGTACCTTCCGCCTCATTGGAGAAAAAAGTCTATTATGCATAACTAAAGACAAAGTGGATGGAACCTGGGATAAACCTGCTCCTAAATGTGAATATTTCAATAAATATTCTTCTTGCCCTGAGCCCATAGTACCAGGAGGATACAAAATTAGAGGCTCTACACCCTACAGACATGGTGATTCTGTGACATTTGCCTGTAAAACCAACTTCTCCATGAACGGAAACAAGTCTGTTTGGTGTCAAGCAAATAATATGTGGGGGCCGACACGACTACCAACCTGTGTAAGTGGTGAGTATGAAAAGAAAGCTGGGTTGGGAGGTTGGGGTCTTGCCTTTCTGTGCAGACCACGTTTTGTACCCTCCTGAAGGACAAACAGTGTGAACATGTAATGATGAGGGTGGAAGAAGGAAACAAGGGAAAAGGTGAAAGTTATGGCTTCTTCGTGGAGGCATATAACTGCTCGTTCAAAAAACATCAATTGAGCAAAGGAGTTTAAAGTACATGGAAAAATGTAATTAAACACACCTAATAATTGAGTAGGGTAAGTTTTGCAAGGATGGGGTCAGAGTTTGTTGGGGATGTGGGAATGGGGTGGTTTTCAACTGTATATCTGTGTTACTGTTAAAATGAGAAGAACGGTGGGATCTTATAGCAAAAATACACCCAATGGATTTGAAATTAATGTATAAGTAGCTGCTAACACAGTCTAGCACAGGTGATATCCTGCTCTCTGTGGTCTCTGTAAACATGTTTTGAAGTTATCCACTATTTCCCCAAGTCATCTTCTGAGCCATCACATTTCAAATAAATGCCTTTGAAAATAGGGACCTACTGTAAATTATTCATTCCTTCTCTTTTGGTTTGGTTTATGTTGCTGCTGAAATATAAATCTGAATTTGAATTCCACAATTACAAGAAATGGCAATATTTGACAAAAATTATACTATCAAATTAGGTATTTTCTTAATAAAGAACAATATTGACAAATTTTAAGCAGATTAAAGAGCTGACAAAACTGTTAAATTAGTATAAAATGGGATTCTGTTTATTGATTGATTGATTGATAAATAGCCTTGGAGGAAGGAGATCTTAACGATAGTTACAAAGGGCAATGGCTGCTGAAAACAGTTAAGCCTTTGTAACAATTTAGACAGACATATATGTATGGACATGGAAGGATATCGTATACATGTCGCTAAGTAGAGGAAGTAAGGCATAGAATATGTATTAGTTGTACACACACACATAATATAGGTGTATATATGTATCATGCATAGGATCCCAATAAACTATATTGCCAATATCTACCAGGATAGCCCTTGAAATGATAGCATGCTACTTTTGGAACAGAGAATAAGCTTAAGGATAGGGTGAGAATATAGGTGAAAATTGACTTTTTTTGGTAATTGAAATTTTTCACAAGGCAAATGTAATTCATATAGTGTAACTAAAAATGAAAAATAAGGTACTATTTATGGCTATTTGTGGCATAAAATGGATACACTTAAACCACACCTGTTTGATCTTTAAAAGACTAGGTTGAAAGTTAATACCAACTGGCTACCATAGATCATGTGTCATTTATTTAAATCCATATCCTAAGTCAGCATCTCGATCAAGCTTGTCCAACTCGCTACCCGTGGACAGCATGTGGCCCAGGATGGCTTTGAATGTGGCCCAACAGAAATTCATAAACTTTCTTAAACCATTATGAGATTTTTTTTTTGCAATTTTTTTAGCTTATCAGCTATCATTAGTGTTAGCGTATATTATGTGTGGCCCAAGACAATTTTTCTTCTTCCAATGTTGCCCAGGGAAGCCAAAAGATTGGACCCCCTTGATTCTAGATTGTGAAGGATGCATCATCTGACGGCTTTTTTTTCCTGGTATGTGTGTGTAAAGTTTTCCCTCTCGAGTGTCCAGCACTTCCTATGATCCACAATGGACATCACACAAGTGAGAATGTTGGCTCCATTGCTCCAGGATTGTCTGTGACTTACAGCTGTGAATCTGGTTACTTGCTTGTTGGAGAAAAGATCATTAACTGTTTGTCTTCGGGAAAATGGAGTGCTGTCCCCCCCACATGTGAAGGTACCCTAAATTTACAATCTATTTTAAGAATCTGGGCTGTTCTGTTATTTGCCATGCATTTCTCATCTTTGGTTTGTTTTTTAGAGGCACGCTGTAAATCTCTAGGACGATTTCCCAATGGGAAGGTAAAGGAGCCTCCAATTCTCCGGGTTGGTGTAACTGCAAACTTTTTCTGTGATGAAGGGTGAGTGTCAGGATTATTTATGAGATTTAATTCATTTGTCTTGTGTGTGCGTGGTGTGGACTGTGAAACCTGCAGAAGTCTCCTCTGTGAGGATCTCTGGGCAGTCTGGGGTAGGGTTGTGAGAGGTAATGCTGATAAAAGGAACAGATGCACACTGATTGAAATGAACTTGTCTTGAATTGTAAGTAGAGGCTGCTGTTCTTCAGCACAAACTGCCTAATAGTTCTGAATGACAACCTTCTGTCTCCAGGTATCGACTGCAAGGCCCACCTTCTAGTCGGTGTGTAATTGCTGGACAGGGAGTTGCTTGGACCAAAATGCCAGTATGTGAAGGTAGGCTAGGCAACTATGGTCTGACAGCACTGCATTCTCAGCTTAACTAAAAGCTTTTGGTTCAGTCATTACCTTACAGACTCTTACTGAACACAGAACTCCTAGAGATCTTTAAGGATATGTGCTTCACCAAAGCATCCTTATTTTTTGTTTCCTCAAGTAAAATGGGGTTCCTAGGCTTTCCCTCCTCTGAAAGCTATGCAGACCTTCTAAGTAGGTAGACCATATGCATAAAGAAAATAGTGTATTTGGTAAAAGAAATCAAAGGATCAGCAGAGTACATATACTCAGGAATGAAGCTTGAGAATCAATCTTCTAAATTATGTTGCTTTAGCTGCCTTGACTGATTCATTATAGACTCGGATATCACTGTCCTAGGATAGTGGTATCAAGCAGCATCTGGGGCATTCTTTGTTTTCAATACACCTATGATCTTGTCATTTCTTTCTGCAATTCCCCTAGAAATTTTTTGCCCATCACCTCCCCCTATTCTCAATGGAAGACATATAGGCAACTCACTAGCAAATGTCTCATATGGAAGCATAGTCACTTACACTTGTGACCCGGACCCAGAGGAAGGAGTGAACTTCATCCTTATTGGAGAGAGCACTCTCCGTTGTACAGTTGATAGTCAGAAGACTGGGACCTGGAGTGGCCCTGCCCCACGCTGTGAACTTTCTACTTCTGCGGTTCAGTGTCCACATCCCCAGATCCTAAGAGGCCGAATGGTATCTGGGCAGAAAGATCGATATACCTATAACGACACTGTGATATTTGCTTGCATGTTTGGCTTCACCTTGAAGGGCAGCAAGCAAATCCGATGCAATGCCCAAGGCACATGGGAGCCATCTGCACCAGTCTGTGAAAAGGGTGAGTGTTCCGGTACTCAGAAAAGGTGCTTCTGATTCGTTTCTGAAAAATTAGAAGAAGGGGTTGTGGGCTTTAGGTAGGGCCTTGTCCAGTTTATACTTCCCTCAAATCTACTACATCTAATCAATATAAATTTTGTAGAGGGCATTCTTATCACTAGCCCCCCACCATTGTTTTATTTTGTGGGAATATGCTTGGAAAAAATGTTAGGAATCACTAAGTTTCTCATTTCTATAGGGGAAAAAATGAGGAGAAAAATGCTTGTTTGTCTTAATAGTGACTTCTTAAAAGAGAAGTCATTCAAGCCCTCATTCCTAGGGATATATCAGAATCTCCCATAAAAAACATACAAGATGATTCCTTATGAAGGGAAGAGGCAGGAGAGGAGTTGCAGAACCCAGTGGAAAGTGAACAACATCTGCAGCAGCCTCTGTGCAGAAAACAACAACAACAACAACAACAAAAGATTGGGAAACTGTGATCTAAAATTACCCAAAGCTGGTCTGCAACATATGTTCTGTATCATACAGCTGACGCCAGAGTGGAATTATAGCATGAATATCAATTTCTTTGGCTCAGTTTCTTTCTGTGGTTGTTTACTTAAGCAGTTATGTTT
|
AGGTACCTTCCGCCTCATTGGAGAAAAAAGTCTATTATGCATAACTAAAGACAAAGTGGATGGAACCTGGGATAAACCTGCTCCTAAATGTGAATATTTCAATAAATATTCTTCTTGCCCTGAGCCCATAGTACCAGGAGGATACAAAATTAGAGGCTCTACACCCTACAGACATGGTGATTCTGTGACATTTGCCTGTAAAACCAACTTCTCCATGAACGGAAACAAGTCTGTTTGGTGTCAAGCAAATAATATGTGGGGGCCGACACGACTACCAACCTGTGTAAGTGGTGAGTATGAAAAGAAAGCTGGGTTGGGAGGTTGGGGTCTTGCCTTTCTGTGCAGACCACGTTTTGTACCCTCCTGAAGGACAAACAGTGTGAACATGTAATGATGAGGGTGGAAGAAGGAAACAAGGGAAAAGGTGAAAGTTATGGCTTCTTCGTGGAGGCATATAACTGCTCGTTCAAAAAACATCAATTGAGCAAAGGAGTTTAAAGTACATGGAAAAATGTAATTAAACACACCTAATAATTGAGTAGGGTAAGTTTTGCAAGGATGGGGTCAGAGTTTGTTGGGGATGTGGGAATGGGGTGGTTTTCAACTGTATATCTGTGTTACTGTTAAAATGAGAAGAACGGTGGGATCTTATAGCAAAAATACACCCAATGGATTTGAAATTAATGTATAAGTAGCTGCTAACACAGTCTAGCACAGGTGATATCCTGCTCTCTGTGGTCTCTGTAAACATGTTTTGAAGTTATCCACTATTTCCCCAAGTCATCTTCTGAGCCATCACATTTCAAATAAATGCCTTTGAAAATAGGGACCTACTGTAAATTATTCATTCCTTCTCTTTTGGTTTGGTTTATGTTGCTGCTGAAATATAAATCTGAATTTGAATTCCACAATTACAAGAAATGGCAATATTTGACAAAAATTATACTATCAAATTAGGTATTTTCTTAATAAAGAACAATATTGACAAATTTTAAGCAGATTAAAGAGCTGACAAAACTGTTAAATTAGTATAAAATGGGATTCTGTTTATTGATTGATTGATTGATAAATAGCCTTGGAGGAAGGAGATCTTAACGATAGTTACAAAGGGCAATGGCTGCTGAAAACAGTTAAGCCTTTGTAACAATTTAGACAGACATATATGTATGGACATGGAAGGATATCGTATACATGTCGCTAAGTAGAGGAAGTAAGGCATAGAATATGTATTAGTTGTACACACACACATAATATAGGTGTATATATGTATCATGCATAGGATCCCAATAAACTATATTGCCAATATCTACCAGGATAGCCCTTGAAATGATAGCATGCTACTTTTGGAACAGAGAATAAGCTTAAGGATAGGGTGAGAATATAGGTGAAAATTGACTTTTTTTGGTAATTGAAATTTTTCACAAGGCAAATGTAATTCATATAGTGTAACTAAAAATGAAAAATAAGGTACTATTTATGGCTATTTGTGGCATAAAATGGATACACTTAAACCACACCTGTTTGATCTTTAAAAGACTAGGTTGAAAGTTAATACCAACTGGCTACCATAGATCATGTGTCATTTATTTAAATCCATATCCTAAGTCAGCATCTCGATCAAGCTTGTCCAACTCGCTACCCGTGGACAGCATGTGGCCCAGGATGGCTTTGAATGTGGCCCAACAGAAATTCATAAACTTTCTTAAACCATTATGAGATTTTTTTTTTGCAATTTTTTTAGCTTATCAGCTATCATTAGTGTTAGCGTATATTATGTGTGGCCCAAGACAATTTTTCTTCTTCCAATGTTGCCCAGGGAAGCCAAAAGATTGGACCCCCTTGATTCTAGATTGTGAAGGATGCATCATCTGACGGCTTTTTTTTCCTGGTATGTGTGTGTAAAGTTTTCCCTCTCGAGTGTCCAGCACTTCCTATGATCCACAATGGACATCACACAAGTGAGAATGTTGGCTCCATTGCTCCAGGATTGTCTGTGACTTACAGCTGTGAATCTGGTTACTTGCTTGTTGGAGAAAAGATCATTAACTGTTTTGTCTTCGGGAAAATGGAGTGCTGTCCCCCCCACATGTGAAGGTACCCTAAATTTACAATCTATTTTAAGAATCTGGGCTGTTCTGTTATTTGCCATGCATTTCTCATCTTTGGTTTGTTTTTTAGAGGCACGCTGTAAATCTCTAGGACGATTTCCCAATGGGAAGGTAAAGGAGCCTCCAATTCTCCGGGTTGGTGTAACTGCAAACTTTTTCTGTGATGAAGGGTGAGTGTCAGGATTATTTATGAGATTTAATTCATTTGTCTTGTGTGTGCGTGGTGTGGACTGTGAAACCTGCAGAAGTCTCCTCTGTGAGGATCTCTGGGCAGTCTGGGGTAGGGTTGTGAGAGGTAATGCTGATAAAAGGAACAGATGCACACTGATTGAAATGAACTTGTCTTGAATTGTAAGTAGAGGCTGCTGTTCTTCAGCACAAACTGCCTAATAGTTCTGAATGACAACCTTCTGTCTCCAGGTATCGACTGCAAGGCCCACCTTCTAGTCGGTGTGTAATTGCTGGACAGGGAGTTGCTTGGACCAAAATGCCAGTATGTGAAGGTAGGCTAGGCAACTATGGTCTGACAGCACTGCATTCTCAGCTTAACTAAAAGCTTTTGGTTCAGTCATTACCTTACAGACTCTTACTGAACACAGAACTCCTAGAGATCTTTAAGGATATGTGCTTCACCAAAGCATCCTTATTTTTTGTTTCCTCAAGTAAAATGGGGTTCCTAGGCTTTCCCTCCTCTGAAAGCTATGCAGACCTTCTAAGTAGGTAGACCATATGCATAAAGAAAATAGTGTATTTGGTAAAAGAAATCAAAGGATCAGCAGAGTACATATACTCAGGAATGAAGCTTGAGAATCAATCTTCTAAATTATGTTGCTTTAGCTGCCTTGACTGATTCATTATAGACTCGGATATCACTGTCCTAGGATAGTGGTATCAAGCAGCATCTGGGGCATTCTTTGTTTTCAATACACCTATGATCTTGTCATTTCTTTCTGCAATTCCCCTAGAAATTTTTTGCCCATCACCTCCCCCTATTCTCAATGGAAGACATATAGGCAACTCACTAGCAAATGTCTCATATGGAAGCATAGTCACTTACACTTGTGACCCGGACCCAGAGGAAGGAGTGAACTTCATCCTTATTGGAGAGAGCACTCTCCGTTGTACAGTTGATAGTCAGAAGACTGGGACCTGGAGTGGCCCTGCCCCACGCTGTGAACTTTCTACTTCTGCGGTTCAGTGTCCACATCCCCAGATCCTAAGAGGCCGAATGGTATCTGGGCAGAAAGATCGATATACCTATAACGACACTGTGATATTTGCTTGCATGTTTGGCTTCACCTTGAAGGGCAGCAAGCAAATCCGATGCAATGCCCAAGGCACATGGGAGCCATCTGCACCAGTCTGTGAAAAGGGTGAGTGTTCCGGTACTCAGAAAAGGTGCTTCTGATTCGTTTCTGAAAAATTAGAAGAAGGGGTTGTGGGCTTTAGGTAGGGCCTTGTCCAGTTTATACTTCCCTCAAATCTACTACATCTAATCAATATAAATTTTGTAGAGGGCATTCTTATCACTAGCCCCCCACCATTGTTTTATTTTGTGGGAATATGCTTGGAAAAAATGTTAGGAATCACTAAGTTTCTCATTTCTATAGGGGAAAAAATGAGGAGAAAAATGCTTGTTTGTCTTAATAGTGACTTCTTAAAAGAGAAGTCATTCAAGCCCTCATTCCTAGGGATATATCAGAATCTCCCATAAAAAACATACAAGATGATTCCTTATGAAGGGAAGAGGCAGGAGAGGAGTTGCAGAACCCAGTGGAAAGTGAACAACATCTGCAGCAGCCTCTGTGCAGAAAACAACAACAACAACAACAACAAAAGATTGGGAAACTGTGATCTAAAATTACCCAAAGCTGGTCTGCAACATATGTTCTGTATCATACAGCTGACGCCAGAGTGGAATTATAGCATGAATATCAATTTCTTTGGCTCAGTTTCTTTCTGTGGTTGTTTACTTAAGCAGTTATGTT
|
pathogenic
| 21,058
|
Is the genetic change at chromosome 1, position 207468698, within gene CR2 (complement C3d receptor 2) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Immunodeficiency,_common_variable,_7']
|
AAGTCTATTATGCATAACTAAAGACAAAGTGGATGGAACCTGGGATAAACCTGCTCCTAAATGTGAATATTTCAATAAATATTCTTCTTGCCCTGAGCCCATAGTACCAGGAGGATACAAAATTAGAGGCTCTACACCCTACAGACATGGTGATTCTGTGACATTTGCCTGTAAAACCAACTTCTCCATGAACGGAAACAAGTCTGTTTGGTGTCAAGCAAATAATATGTGGGGGCCGACACGACTACCAACCTGTGTAAGTGGTGAGTATGAAAAGAAAGCTGGGTTGGGAGGTTGGGGTCTTGCCTTTCTGTGCAGACCACGTTTTGTACCCTCCTGAAGGACAAACAGTGTGAACATGTAATGATGAGGGTGGAAGAAGGAAACAAGGGAAAAGGTGAAAGTTATGGCTTCTTCGTGGAGGCATATAACTGCTCGTTCAAAAAACATCAATTGAGCAAAGGAGTTTAAAGTACATGGAAAAATGTAATTAAACACACCTAATAATTGAGTAGGGTAAGTTTTGCAAGGATGGGGTCAGAGTTTGTTGGGGATGTGGGAATGGGGTGGTTTTCAACTGTATATCTGTGTTACTGTTAAAATGAGAAGAACGGTGGGATCTTATAGCAAAAATACACCCAATGGATTTGAAATTAATGTATAAGTAGCTGCTAACACAGTCTAGCACAGGTGATATCCTGCTCTCTGTGGTCTCTGTAAACATGTTTTGAAGTTATCCACTATTTCCCCAAGTCATCTTCTGAGCCATCACATTTCAAATAAATGCCTTTGAAAATAGGGACCTACTGTAAATTATTCATTCCTTCTCTTTTGGTTTGGTTTATGTTGCTGCTGAAATATAAATCTGAATTTGAATTCCACAATTACAAGAAATGGCAATATTTGACAAAAATTATACTATCAAATTAGGTATTTTCTTAATAAAGAACAATATTGACAAATTTTAAGCAGATTAAAGAGCTGACAAAACTGTTAAATTAGTATAAAATGGGATTCTGTTTATTGATTGATTGATTGATAAATAGCCTTGGAGGAAGGAGATCTTAACGATAGTTACAAAGGGCAATGGCTGCTGAAAACAGTTAAGCCTTTGTAACAATTTAGACAGACATATATGTATGGACATGGAAGGATATCGTATACATGTCGCTAAGTAGAGGAAGTAAGGCATAGAATATGTATTAGTTGTACACACACACATAATATAGGTGTATATATGTATCATGCATAGGATCCCAATAAACTATATTGCCAATATCTACCAGGATAGCCCTTGAAATGATAGCATGCTACTTTTGGAACAGAGAATAAGCTTAAGGATAGGGTGAGAATATAGGTGAAAATTGACTTTTTTTGGTAATTGAAATTTTTCACAAGGCAAATGTAATTCATATAGTGTAACTAAAAATGAAAAATAAGGTACTATTTATGGCTATTTGTGGCATAAAATGGATACACTTAAACCACACCTGTTTGATCTTTAAAAGACTAGGTTGAAAGTTAATACCAACTGGCTACCATAGATCATGTGTCATTTATTTAAATCCATATCCTAAGTCAGCATCTCGATCAAGCTTGTCCAACTCGCTACCCGTGGACAGCATGTGGCCCAGGATGGCTTTGAATGTGGCCCAACAGAAATTCATAAACTTTCTTAAACCATTATGAGATTTTTTTTTTGCAATTTTTTTAGCTTATCAGCTATCATTAGTGTTAGCGTATATTATGTGTGGCCCAAGACAATTTTTCTTCTTCCAATGTTGCCCAGGGAAGCCAAAAGATTGGACCCCCTTGATTCTAGATTGTGAAGGATGCATCATCTGACGGCTTTTTTTTCCTGGTATGTGTGTGTAAAGTTTTCCCTCTCGAGTGTCCAGCACTTCCTATGATCCACAATGGACATCACACAAGTGAGAATGTTGGCTCCATTGCTCCAGGATTGTCTGTGACTTACAGCTGTGAATCTGGTTACTTGCTTGTTGGAGAAAAGATCATTAACTGTTTGTCTTCGGGAAAATGGAGTGCTGTCCCCCCCACATGTGAAGGTACCCTAAATTTACAATCTATTTTAAGAATCTGGGCTGTTCTGTTATTTGCCATGCATTTCTCATCTTTGGTTTGTTTTTTAGAGGCACGCTGTAAATCTCTAGGACGATTTCCCAATGGGAAGGTAAAGGAGCCTCCAATTCTCCGGGTTGGTGTAACTGCAAACTTTTTCTGTGATGAAGGGTGAGTGTCAGGATTATTTATGAGATTTAATTCATTTGTCTTGTGTGTGCGTGGTGTGGACTGTGAAACCTGCAGAAGTCTCCTCTGTGAGGATCTCTGGGCAGTCTGGGGTAGGGTTGTGAGAGGTAATGCTGATAAAAGGAACAGATGCACACTGATTGAAATGAACTTGTCTTGAATTGTAAGTAGAGGCTGCTGTTCTTCAGCACAAACTGCCTAATAGTTCTGAATGACAACCTTCTGTCTCCAGGTATCGACTGCAAGGCCCACCTTCTAGTCGGTGTGTAATTGCTGGACAGGGAGTTGCTTGGACCAAAATGCCAGTATGTGAAGGTAGGCTAGGCAACTATGGTCTGACAGCACTGCATTCTCAGCTTAACTAAAAGCTTTTGGTTCAGTCATTACCTTACAGACTCTTACTGAACACAGAACTCCTAGAGATCTTTAAGGATATGTGCTTCACCAAAGCATCCTTATTTTTTGTTTCCTCAAGTAAAATGGGGTTCCTAGGCTTTCCCTCCTCTGAAAGCTATGCAGACCTTCTAAGTAGGTAGACCATATGCATAAAGAAAATAGTGTATTTGGTAAAAGAAATCAAAGGATCAGCAGAGTACATATACTCAGGAATGAAGCTTGAGAATCAATCTTCTAAATTATGTTGCTTTAGCTGCCTTGACTGATTCATTATAGACTCGGATATCACTGTCCTAGGATAGTGGTATCAAGCAGCATCTGGGGCATTCTTTGTTTTCAATACACCTATGATCTTGTCATTTCTTTCTGCAATTCCCCTAGAAATTTTTTGCCCATCACCTCCCCCTATTCTCAATGGAAGACATATAGGCAACTCACTAGCAAATGTCTCATATGGAAGCATAGTCACTTACACTTGTGACCCGGACCCAGAGGAAGGAGTGAACTTCATCCTTATTGGAGAGAGCACTCTCCGTTGTACAGTTGATAGTCAGAAGACTGGGACCTGGAGTGGCCCTGCCCCACGCTGTGAACTTTCTACTTCTGCGGTTCAGTGTCCACATCCCCAGATCCTAAGAGGCCGAATGGTATCTGGGCAGAAAGATCGATATACCTATAACGACACTGTGATATTTGCTTGCATGTTTGGCTTCACCTTGAAGGGCAGCAAGCAAATCCGATGCAATGCCCAAGGCACATGGGAGCCATCTGCACCAGTCTGTGAAAAGGGTGAGTGTTCCGGTACTCAGAAAAGGTGCTTCTGATTCGTTTCTGAAAAATTAGAAGAAGGGGTTGTGGGCTTTAGGTAGGGCCTTGTCCAGTTTATACTTCCCTCAAATCTACTACATCTAATCAATATAAATTTTGTAGAGGGCATTCTTATCACTAGCCCCCCACCATTGTTTTATTTTGTGGGAATATGCTTGGAAAAAATGTTAGGAATCACTAAGTTTCTCATTTCTATAGGGGAAAAAATGAGGAGAAAAATGCTTGTTTGTCTTAATAGTGACTTCTTAAAAGAGAAGTCATTCAAGCCCTCATTCCTAGGGATATATCAGAATCTCCCATAAAAAACATACAAGATGATTCCTTATGAAGGGAAGAGGCAGGAGAGGAGTTGCAGAACCCAGTGGAAAGTGAACAACATCTGCAGCAGCCTCTGTGCAGAAAACAACAACAACAACAACAACAAAAGATTGGGAAACTGTGATCTAAAATTACCCAAAGCTGGTCTGCAACATATGTTCTGTATCATACAGCTGACGCCAGAGTGGAATTATAGCATGAATATCAATTTCTTTGGCTCAGTTTCTTTCTGTGGTTGTTTACTTAAGCAGTTATGTTTTGTTTTTGTCCTTTCATTTAGAATGCC
|
AAGTCTATTATGCATAACTAAAGACAAAGTGGATGGAACCTGGGATAAACCTGCTCCTAAATGTGAATATTTCAATAAATATTCTTCTTGCCCTGAGCCCATAGTACCAGGAGGATACAAAATTAGAGGCTCTACACCCTACAGACATGGTGATTCTGTGACATTTGCCTGTAAAACCAACTTCTCCATGAACGGAAACAAGTCTGTTTGGTGTCAAGCAAATAATATGTGGGGGCCGACACGACTACCAACCTGTGTAAGTGGTGAGTATGAAAAGAAAGCTGGGTTGGGAGGTTGGGGTCTTGCCTTTCTGTGCAGACCACGTTTTGTACCCTCCTGAAGGACAAACAGTGTGAACATGTAATGATGAGGGTGGAAGAAGGAAACAAGGGAAAAGGTGAAAGTTATGGCTTCTTCGTGGAGGCATATAACTGCTCGTTCAAAAAACATCAATTGAGCAAAGGAGTTTAAAGTACATGGAAAAATGTAATTAAACACACCTAATAATTGAGTAGGGTAAGTTTTGCAAGGATGGGGTCAGAGTTTGTTGGGGATGTGGGAATGGGGTGGTTTTCAACTGTATATCTGTGTTACTGTTAAAATGAGAAGAACGGTGGGATCTTATAGCAAAAATACACCCAATGGATTTGAAATTAATGTATAAGTAGCTGCTAACACAGTCTAGCACAGGTGATATCCTGCTCTCTGTGGTCTCTGTAAACATGTTTTGAAGTTATCCACTATTTCCCCAAGTCATCTTCTGAGCCATCACATTTCAAATAAATGCCTTTGAAAATAGGGACCTACTGTAAATTATTCATTCCTTCTCTTTTGGTTTGGTTTATGTTGCTGCTGAAATATAAATCTGAATTTGAATTCCACAATTACAAGAAATGGCAATATTTGACAAAAATTATACTATCAAATTAGGTATTTTCTTAATAAAGAACAATATTGACAAATTTTAAGCAGATTAAAGAGCTGACAAAACTGTTAAATTAGTATAAAATGGGATTCTGTTTATTGATTGATTGATTGATAAATAGCCTTGGAGGAAGGAGATCTTAACGATAGTTACAAAGGGCAATGGCTGCTGAAAACAGTTAAGCCTTTGTAACAATTTAGACAGACATATATGTATGGACATGGAAGGATATCGTATACATGTCGCTAAGTAGAGGAAGTAAGGCATAGAATATGTATTAGTTGTACACACACACATAATATAGGTGTATATATGTATCATGCATAGGATCCCAATAAACTATATTGCCAATATCTACCAGGATAGCCCTTGAAATGATAGCATGCTACTTTTGGAACAGAGAATAAGCTTAAGGATAGGGTGAGAATATAGGTGAAAATTGACTTTTTTTGGTAATTGAAATTTTTCACAAGGCAAATGTAATTCATATAGTGTAACTAAAAATGAAAAATAAGGTACTATTTATGGCTATTTGTGGCATAAAATGGATACACTTAAACCACACCTGTTTGATCTTTAAAAGACTAGGTTGAAAGTTAATACCAACTGGCTACCATAGATCATGTGTCATTTATTTAAATCCATATCCTAAGTCAGCATCTCGATCAAGCTTGTCCAACTCGCTACCCGTGGACAGCATGTGGCCCAGGATGGCTTTGAATGTGGCCCAACAGAAATTCATAAACTTTCTTAAACCATTATGAGATTTTTTTTTTGCAATTTTTTTAGCTTATCAGCTATCATTAGTGTTAGCGTATATTATGTGTGGCCCAAGACAATTTTTCTTCTTCCAATGTTGCCCAGGGAAGCCAAAAGATTGGACCCCCTTGATTCTAGATTGTGAAGGATGCATCATCTGACGGCTTTTTTTTCCTGGTATGTGTGTGTAAAGTTTTCCCTCTCGAGTGTCCAGCACTTCCTATGATCCACAATGGACATCACACAAGTGAGAATGTTGGCTCCATTGCTCCAGGATTGTCTGTGACTTACAGCTGTGAATCTGGTTACTTGCTTGTTGGAGAAAAGATCATTAACTGTTTGTCTTCGGGAAAATGGAGTGCTGTCCCCCCCCACATGTGAAGGTACCCTAAATTTACAATCTATTTTAAGAATCTGGGCTGTTCTGTTATTTGCCATGCATTTCTCATCTTTGGTTTGTTTTTTAGAGGCACGCTGTAAATCTCTAGGACGATTTCCCAATGGGAAGGTAAAGGAGCCTCCAATTCTCCGGGTTGGTGTAACTGCAAACTTTTTCTGTGATGAAGGGTGAGTGTCAGGATTATTTATGAGATTTAATTCATTTGTCTTGTGTGTGCGTGGTGTGGACTGTGAAACCTGCAGAAGTCTCCTCTGTGAGGATCTCTGGGCAGTCTGGGGTAGGGTTGTGAGAGGTAATGCTGATAAAAGGAACAGATGCACACTGATTGAAATGAACTTGTCTTGAATTGTAAGTAGAGGCTGCTGTTCTTCAGCACAAACTGCCTAATAGTTCTGAATGACAACCTTCTGTCTCCAGGTATCGACTGCAAGGCCCACCTTCTAGTCGGTGTGTAATTGCTGGACAGGGAGTTGCTTGGACCAAAATGCCAGTATGTGAAGGTAGGCTAGGCAACTATGGTCTGACAGCACTGCATTCTCAGCTTAACTAAAAGCTTTTGGTTCAGTCATTACCTTACAGACTCTTACTGAACACAGAACTCCTAGAGATCTTTAAGGATATGTGCTTCACCAAAGCATCCTTATTTTTTGTTTCCTCAAGTAAAATGGGGTTCCTAGGCTTTCCCTCCTCTGAAAGCTATGCAGACCTTCTAAGTAGGTAGACCATATGCATAAAGAAAATAGTGTATTTGGTAAAAGAAATCAAAGGATCAGCAGAGTACATATACTCAGGAATGAAGCTTGAGAATCAATCTTCTAAATTATGTTGCTTTAGCTGCCTTGACTGATTCATTATAGACTCGGATATCACTGTCCTAGGATAGTGGTATCAAGCAGCATCTGGGGCATTCTTTGTTTTCAATACACCTATGATCTTGTCATTTCTTTCTGCAATTCCCCTAGAAATTTTTTGCCCATCACCTCCCCCTATTCTCAATGGAAGACATATAGGCAACTCACTAGCAAATGTCTCATATGGAAGCATAGTCACTTACACTTGTGACCCGGACCCAGAGGAAGGAGTGAACTTCATCCTTATTGGAGAGAGCACTCTCCGTTGTACAGTTGATAGTCAGAAGACTGGGACCTGGAGTGGCCCTGCCCCACGCTGTGAACTTTCTACTTCTGCGGTTCAGTGTCCACATCCCCAGATCCTAAGAGGCCGAATGGTATCTGGGCAGAAAGATCGATATACCTATAACGACACTGTGATATTTGCTTGCATGTTTGGCTTCACCTTGAAGGGCAGCAAGCAAATCCGATGCAATGCCCAAGGCACATGGGAGCCATCTGCACCAGTCTGTGAAAAGGGTGAGTGTTCCGGTACTCAGAAAAGGTGCTTCTGATTCGTTTCTGAAAAATTAGAAGAAGGGGTTGTGGGCTTTAGGTAGGGCCTTGTCCAGTTTATACTTCCCTCAAATCTACTACATCTAATCAATATAAATTTTGTAGAGGGCATTCTTATCACTAGCCCCCCACCATTGTTTTATTTTGTGGGAATATGCTTGGAAAAAATGTTAGGAATCACTAAGTTTCTCATTTCTATAGGGGAAAAAATGAGGAGAAAAATGCTTGTTTGTCTTAATAGTGACTTCTTAAAAGAGAAGTCATTCAAGCCCTCATTCCTAGGGATATATCAGAATCTCCCATAAAAAACATACAAGATGATTCCTTATGAAGGGAAGAGGCAGGAGAGGAGTTGCAGAACCCAGTGGAAAGTGAACAACATCTGCAGCAGCCTCTGTGCAGAAAACAACAACAACAACAACAACAAAAGATTGGGAAACTGTGATCTAAAATTACCCAAAGCTGGTCTGCAACATATGTTCTGTATCATACAGCTGACGCCAGAGTGGAATTATAGCATGAATATCAATTTCTTTGGCTCAGTTTCTTTCTGTGGTTGTTTACTTAAGCAGTTATGTTTTGTTTTTGTCCTTTCATTTAGAATGC
|
pathogenic
| 21,059
|
Clinically, how would you classify the variant at chromosome 1, position 207468698, gene CR2 (complement C3d receptor 2): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['CR2-related_disorder', 'Immunodeficiency,_common_variable,_7']
|
AAGTCTATTATGCATAACTAAAGACAAAGTGGATGGAACCTGGGATAAACCTGCTCCTAAATGTGAATATTTCAATAAATATTCTTCTTGCCCTGAGCCCATAGTACCAGGAGGATACAAAATTAGAGGCTCTACACCCTACAGACATGGTGATTCTGTGACATTTGCCTGTAAAACCAACTTCTCCATGAACGGAAACAAGTCTGTTTGGTGTCAAGCAAATAATATGTGGGGGCCGACACGACTACCAACCTGTGTAAGTGGTGAGTATGAAAAGAAAGCTGGGTTGGGAGGTTGGGGTCTTGCCTTTCTGTGCAGACCACGTTTTGTACCCTCCTGAAGGACAAACAGTGTGAACATGTAATGATGAGGGTGGAAGAAGGAAACAAGGGAAAAGGTGAAAGTTATGGCTTCTTCGTGGAGGCATATAACTGCTCGTTCAAAAAACATCAATTGAGCAAAGGAGTTTAAAGTACATGGAAAAATGTAATTAAACACACCTAATAATTGAGTAGGGTAAGTTTTGCAAGGATGGGGTCAGAGTTTGTTGGGGATGTGGGAATGGGGTGGTTTTCAACTGTATATCTGTGTTACTGTTAAAATGAGAAGAACGGTGGGATCTTATAGCAAAAATACACCCAATGGATTTGAAATTAATGTATAAGTAGCTGCTAACACAGTCTAGCACAGGTGATATCCTGCTCTCTGTGGTCTCTGTAAACATGTTTTGAAGTTATCCACTATTTCCCCAAGTCATCTTCTGAGCCATCACATTTCAAATAAATGCCTTTGAAAATAGGGACCTACTGTAAATTATTCATTCCTTCTCTTTTGGTTTGGTTTATGTTGCTGCTGAAATATAAATCTGAATTTGAATTCCACAATTACAAGAAATGGCAATATTTGACAAAAATTATACTATCAAATTAGGTATTTTCTTAATAAAGAACAATATTGACAAATTTTAAGCAGATTAAAGAGCTGACAAAACTGTTAAATTAGTATAAAATGGGATTCTGTTTATTGATTGATTGATTGATAAATAGCCTTGGAGGAAGGAGATCTTAACGATAGTTACAAAGGGCAATGGCTGCTGAAAACAGTTAAGCCTTTGTAACAATTTAGACAGACATATATGTATGGACATGGAAGGATATCGTATACATGTCGCTAAGTAGAGGAAGTAAGGCATAGAATATGTATTAGTTGTACACACACACATAATATAGGTGTATATATGTATCATGCATAGGATCCCAATAAACTATATTGCCAATATCTACCAGGATAGCCCTTGAAATGATAGCATGCTACTTTTGGAACAGAGAATAAGCTTAAGGATAGGGTGAGAATATAGGTGAAAATTGACTTTTTTTGGTAATTGAAATTTTTCACAAGGCAAATGTAATTCATATAGTGTAACTAAAAATGAAAAATAAGGTACTATTTATGGCTATTTGTGGCATAAAATGGATACACTTAAACCACACCTGTTTGATCTTTAAAAGACTAGGTTGAAAGTTAATACCAACTGGCTACCATAGATCATGTGTCATTTATTTAAATCCATATCCTAAGTCAGCATCTCGATCAAGCTTGTCCAACTCGCTACCCGTGGACAGCATGTGGCCCAGGATGGCTTTGAATGTGGCCCAACAGAAATTCATAAACTTTCTTAAACCATTATGAGATTTTTTTTTTGCAATTTTTTTAGCTTATCAGCTATCATTAGTGTTAGCGTATATTATGTGTGGCCCAAGACAATTTTTCTTCTTCCAATGTTGCCCAGGGAAGCCAAAAGATTGGACCCCCTTGATTCTAGATTGTGAAGGATGCATCATCTGACGGCTTTTTTTTCCTGGTATGTGTGTGTAAAGTTTTCCCTCTCGAGTGTCCAGCACTTCCTATGATCCACAATGGACATCACACAAGTGAGAATGTTGGCTCCATTGCTCCAGGATTGTCTGTGACTTACAGCTGTGAATCTGGTTACTTGCTTGTTGGAGAAAAGATCATTAACTGTTTGTCTTCGGGAAAATGGAGTGCTGTCCCCCCCACATGTGAAGGTACCCTAAATTTACAATCTATTTTAAGAATCTGGGCTGTTCTGTTATTTGCCATGCATTTCTCATCTTTGGTTTGTTTTTTAGAGGCACGCTGTAAATCTCTAGGACGATTTCCCAATGGGAAGGTAAAGGAGCCTCCAATTCTCCGGGTTGGTGTAACTGCAAACTTTTTCTGTGATGAAGGGTGAGTGTCAGGATTATTTATGAGATTTAATTCATTTGTCTTGTGTGTGCGTGGTGTGGACTGTGAAACCTGCAGAAGTCTCCTCTGTGAGGATCTCTGGGCAGTCTGGGGTAGGGTTGTGAGAGGTAATGCTGATAAAAGGAACAGATGCACACTGATTGAAATGAACTTGTCTTGAATTGTAAGTAGAGGCTGCTGTTCTTCAGCACAAACTGCCTAATAGTTCTGAATGACAACCTTCTGTCTCCAGGTATCGACTGCAAGGCCCACCTTCTAGTCGGTGTGTAATTGCTGGACAGGGAGTTGCTTGGACCAAAATGCCAGTATGTGAAGGTAGGCTAGGCAACTATGGTCTGACAGCACTGCATTCTCAGCTTAACTAAAAGCTTTTGGTTCAGTCATTACCTTACAGACTCTTACTGAACACAGAACTCCTAGAGATCTTTAAGGATATGTGCTTCACCAAAGCATCCTTATTTTTTGTTTCCTCAAGTAAAATGGGGTTCCTAGGCTTTCCCTCCTCTGAAAGCTATGCAGACCTTCTAAGTAGGTAGACCATATGCATAAAGAAAATAGTGTATTTGGTAAAAGAAATCAAAGGATCAGCAGAGTACATATACTCAGGAATGAAGCTTGAGAATCAATCTTCTAAATTATGTTGCTTTAGCTGCCTTGACTGATTCATTATAGACTCGGATATCACTGTCCTAGGATAGTGGTATCAAGCAGCATCTGGGGCATTCTTTGTTTTCAATACACCTATGATCTTGTCATTTCTTTCTGCAATTCCCCTAGAAATTTTTTGCCCATCACCTCCCCCTATTCTCAATGGAAGACATATAGGCAACTCACTAGCAAATGTCTCATATGGAAGCATAGTCACTTACACTTGTGACCCGGACCCAGAGGAAGGAGTGAACTTCATCCTTATTGGAGAGAGCACTCTCCGTTGTACAGTTGATAGTCAGAAGACTGGGACCTGGAGTGGCCCTGCCCCACGCTGTGAACTTTCTACTTCTGCGGTTCAGTGTCCACATCCCCAGATCCTAAGAGGCCGAATGGTATCTGGGCAGAAAGATCGATATACCTATAACGACACTGTGATATTTGCTTGCATGTTTGGCTTCACCTTGAAGGGCAGCAAGCAAATCCGATGCAATGCCCAAGGCACATGGGAGCCATCTGCACCAGTCTGTGAAAAGGGTGAGTGTTCCGGTACTCAGAAAAGGTGCTTCTGATTCGTTTCTGAAAAATTAGAAGAAGGGGTTGTGGGCTTTAGGTAGGGCCTTGTCCAGTTTATACTTCCCTCAAATCTACTACATCTAATCAATATAAATTTTGTAGAGGGCATTCTTATCACTAGCCCCCCACCATTGTTTTATTTTGTGGGAATATGCTTGGAAAAAATGTTAGGAATCACTAAGTTTCTCATTTCTATAGGGGAAAAAATGAGGAGAAAAATGCTTGTTTGTCTTAATAGTGACTTCTTAAAAGAGAAGTCATTCAAGCCCTCATTCCTAGGGATATATCAGAATCTCCCATAAAAAACATACAAGATGATTCCTTATGAAGGGAAGAGGCAGGAGAGGAGTTGCAGAACCCAGTGGAAAGTGAACAACATCTGCAGCAGCCTCTGTGCAGAAAACAACAACAACAACAACAACAAAAGATTGGGAAACTGTGATCTAAAATTACCCAAAGCTGGTCTGCAACATATGTTCTGTATCATACAGCTGACGCCAGAGTGGAATTATAGCATGAATATCAATTTCTTTGGCTCAGTTTCTTTCTGTGGTTGTTTACTTAAGCAGTTATGTTTTGTTTTTGTCCTTTCATTTAGAATGCC
|
AAGTCTATTATGCATAACTAAAGACAAAGTGGATGGAACCTGGGATAAACCTGCTCCTAAATGTGAATATTTCAATAAATATTCTTCTTGCCCTGAGCCCATAGTACCAGGAGGATACAAAATTAGAGGCTCTACACCCTACAGACATGGTGATTCTGTGACATTTGCCTGTAAAACCAACTTCTCCATGAACGGAAACAAGTCTGTTTGGTGTCAAGCAAATAATATGTGGGGGCCGACACGACTACCAACCTGTGTAAGTGGTGAGTATGAAAAGAAAGCTGGGTTGGGAGGTTGGGGTCTTGCCTTTCTGTGCAGACCACGTTTTGTACCCTCCTGAAGGACAAACAGTGTGAACATGTAATGATGAGGGTGGAAGAAGGAAACAAGGGAAAAGGTGAAAGTTATGGCTTCTTCGTGGAGGCATATAACTGCTCGTTCAAAAAACATCAATTGAGCAAAGGAGTTTAAAGTACATGGAAAAATGTAATTAAACACACCTAATAATTGAGTAGGGTAAGTTTTGCAAGGATGGGGTCAGAGTTTGTTGGGGATGTGGGAATGGGGTGGTTTTCAACTGTATATCTGTGTTACTGTTAAAATGAGAAGAACGGTGGGATCTTATAGCAAAAATACACCCAATGGATTTGAAATTAATGTATAAGTAGCTGCTAACACAGTCTAGCACAGGTGATATCCTGCTCTCTGTGGTCTCTGTAAACATGTTTTGAAGTTATCCACTATTTCCCCAAGTCATCTTCTGAGCCATCACATTTCAAATAAATGCCTTTGAAAATAGGGACCTACTGTAAATTATTCATTCCTTCTCTTTTGGTTTGGTTTATGTTGCTGCTGAAATATAAATCTGAATTTGAATTCCACAATTACAAGAAATGGCAATATTTGACAAAAATTATACTATCAAATTAGGTATTTTCTTAATAAAGAACAATATTGACAAATTTTAAGCAGATTAAAGAGCTGACAAAACTGTTAAATTAGTATAAAATGGGATTCTGTTTATTGATTGATTGATTGATAAATAGCCTTGGAGGAAGGAGATCTTAACGATAGTTACAAAGGGCAATGGCTGCTGAAAACAGTTAAGCCTTTGTAACAATTTAGACAGACATATATGTATGGACATGGAAGGATATCGTATACATGTCGCTAAGTAGAGGAAGTAAGGCATAGAATATGTATTAGTTGTACACACACACATAATATAGGTGTATATATGTATCATGCATAGGATCCCAATAAACTATATTGCCAATATCTACCAGGATAGCCCTTGAAATGATAGCATGCTACTTTTGGAACAGAGAATAAGCTTAAGGATAGGGTGAGAATATAGGTGAAAATTGACTTTTTTTGGTAATTGAAATTTTTCACAAGGCAAATGTAATTCATATAGTGTAACTAAAAATGAAAAATAAGGTACTATTTATGGCTATTTGTGGCATAAAATGGATACACTTAAACCACACCTGTTTGATCTTTAAAAGACTAGGTTGAAAGTTAATACCAACTGGCTACCATAGATCATGTGTCATTTATTTAAATCCATATCCTAAGTCAGCATCTCGATCAAGCTTGTCCAACTCGCTACCCGTGGACAGCATGTGGCCCAGGATGGCTTTGAATGTGGCCCAACAGAAATTCATAAACTTTCTTAAACCATTATGAGATTTTTTTTTTGCAATTTTTTTAGCTTATCAGCTATCATTAGTGTTAGCGTATATTATGTGTGGCCCAAGACAATTTTTCTTCTTCCAATGTTGCCCAGGGAAGCCAAAAGATTGGACCCCCTTGATTCTAGATTGTGAAGGATGCATCATCTGACGGCTTTTTTTTCCTGGTATGTGTGTGTAAAGTTTTCCCTCTCGAGTGTCCAGCACTTCCTATGATCCACAATGGACATCACACAAGTGAGAATGTTGGCTCCATTGCTCCAGGATTGTCTGTGACTTACAGCTGTGAATCTGGTTACTTGCTTGTTGGAGAAAAGATCATTAACTGTTTGTCTTCGGGAAAATGGAGTGCTGTCCCCCACATGTGAAGGTACCCTAAATTTACAATCTATTTTAAGAATCTGGGCTGTTCTGTTATTTGCCATGCATTTCTCATCTTTGGTTTGTTTTTTAGAGGCACGCTGTAAATCTCTAGGACGATTTCCCAATGGGAAGGTAAAGGAGCCTCCAATTCTCCGGGTTGGTGTAACTGCAAACTTTTTCTGTGATGAAGGGTGAGTGTCAGGATTATTTATGAGATTTAATTCATTTGTCTTGTGTGTGCGTGGTGTGGACTGTGAAACCTGCAGAAGTCTCCTCTGTGAGGATCTCTGGGCAGTCTGGGGTAGGGTTGTGAGAGGTAATGCTGATAAAAGGAACAGATGCACACTGATTGAAATGAACTTGTCTTGAATTGTAAGTAGAGGCTGCTGTTCTTCAGCACAAACTGCCTAATAGTTCTGAATGACAACCTTCTGTCTCCAGGTATCGACTGCAAGGCCCACCTTCTAGTCGGTGTGTAATTGCTGGACAGGGAGTTGCTTGGACCAAAATGCCAGTATGTGAAGGTAGGCTAGGCAACTATGGTCTGACAGCACTGCATTCTCAGCTTAACTAAAAGCTTTTGGTTCAGTCATTACCTTACAGACTCTTACTGAACACAGAACTCCTAGAGATCTTTAAGGATATGTGCTTCACCAAAGCATCCTTATTTTTTGTTTCCTCAAGTAAAATGGGGTTCCTAGGCTTTCCCTCCTCTGAAAGCTATGCAGACCTTCTAAGTAGGTAGACCATATGCATAAAGAAAATAGTGTATTTGGTAAAAGAAATCAAAGGATCAGCAGAGTACATATACTCAGGAATGAAGCTTGAGAATCAATCTTCTAAATTATGTTGCTTTAGCTGCCTTGACTGATTCATTATAGACTCGGATATCACTGTCCTAGGATAGTGGTATCAAGCAGCATCTGGGGCATTCTTTGTTTTCAATACACCTATGATCTTGTCATTTCTTTCTGCAATTCCCCTAGAAATTTTTTGCCCATCACCTCCCCCTATTCTCAATGGAAGACATATAGGCAACTCACTAGCAAATGTCTCATATGGAAGCATAGTCACTTACACTTGTGACCCGGACCCAGAGGAAGGAGTGAACTTCATCCTTATTGGAGAGAGCACTCTCCGTTGTACAGTTGATAGTCAGAAGACTGGGACCTGGAGTGGCCCTGCCCCACGCTGTGAACTTTCTACTTCTGCGGTTCAGTGTCCACATCCCCAGATCCTAAGAGGCCGAATGGTATCTGGGCAGAAAGATCGATATACCTATAACGACACTGTGATATTTGCTTGCATGTTTGGCTTCACCTTGAAGGGCAGCAAGCAAATCCGATGCAATGCCCAAGGCACATGGGAGCCATCTGCACCAGTCTGTGAAAAGGGTGAGTGTTCCGGTACTCAGAAAAGGTGCTTCTGATTCGTTTCTGAAAAATTAGAAGAAGGGGTTGTGGGCTTTAGGTAGGGCCTTGTCCAGTTTATACTTCCCTCAAATCTACTACATCTAATCAATATAAATTTTGTAGAGGGCATTCTTATCACTAGCCCCCCACCATTGTTTTATTTTGTGGGAATATGCTTGGAAAAAATGTTAGGAATCACTAAGTTTCTCATTTCTATAGGGGAAAAAATGAGGAGAAAAATGCTTGTTTGTCTTAATAGTGACTTCTTAAAAGAGAAGTCATTCAAGCCCTCATTCCTAGGGATATATCAGAATCTCCCATAAAAAACATACAAGATGATTCCTTATGAAGGGAAGAGGCAGGAGAGGAGTTGCAGAACCCAGTGGAAAGTGAACAACATCTGCAGCAGCCTCTGTGCAGAAAACAACAACAACAACAACAACAAAAGATTGGGAAACTGTGATCTAAAATTACCCAAAGCTGGTCTGCAACATATGTTCTGTATCATACAGCTGACGCCAGAGTGGAATTATAGCATGAATATCAATTTCTTTGGCTCAGTTTCTTTCTGTGGTTGTTTACTTAAGCAGTTATGTTTTGTTTTTGTCCTTTCATTTAGAATGCCNN
|
pathogenic
| 21,060
|
Regarding the variant at chromosome 1 and position 207485454, affecting gene CR2 (complement C3d receptor 2): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
benign
|
GCCTATGGGGTTCTGGCTGTCCTGTACAGTTAGCGTGTACTTAGAGTGTAGAGTTTACCAGAGTGTGTACCACACAACCCTGCTTTCATGAATGACTTCAGAAAAAAAGGGTGTTCTATGGCAAATAAGATTTGGACATACTGCACACTGTTTTTTTTTCTTGTGGAGAATCACAAGGACCATGAGAATATTTAATAAGAGGTTTTTTGCTATCAAGAGGACAGGATTTCCAGGACTTGGTGACATGCTGGATGTGGGGAGAAGGAGGCACATAGAATGGCTCACATGAAGGCGATGAGGTGGACCCCCTGACTCACTAAAAGAGGAGAGGGGCAGGATTTGTGGGGGAAGATGAGGAGTTCGGTTCTGACCTGGTACTTTGAGGTACTCATGATTTAGGGCTTGGGAGAAGGGTCTGGACTCGGGTGGGTGACACTTAAATCACAATGAAAGCTGTGGAACCAAAAAGAACAGAACAGATAAAAATTGGGATGAGAACAGCCCTCAGAAGAACAGTAATGTTCAAAAGGCAGAAAGTGAAGGAAGAGAGGCAGGGGGAAAACTAGCAGAGAGTAGCGTCACAGAATTCAAGGAGAAAAGGGTCTCAAAAAAAATTAGGGATGTCATTTGCAGGGCCTTCCTCATAGGAAGTCACAAGATAATTTCAGCCAAGAGGCATTAGAAATGTAAATACATAGAAAATACAGTCTCTATCTCTTTCCTTCATGCTACTGAGTTTGCTATCAGAGCACTGCATGTGTATAAAAATTTGCAAATTTGGGGAATGCTTACAAGTGCAAATAATTTATAATATTCCAGTCTAATTATTGTTTATTAATATGATTATATCATGTACTATACTTAAGTGCCTCAACTGATATGAAGCAAACATACCTGTTTAACCAGATTCCTAGTTGCCATTCATTTATTTCCATTTGCTAACCCACTTCAATTGATTTTCCAATAATTGATAAAGACACTTGAATGGCCTGAAATGCTTTTTTAAATGAGATGAGTAATCATTTAAAAATGAATGTCTAGTGACAATATTAAATATTTTGAAAAGCCATCTAAACACTTGAAAGACACTATGCTATTCTTTTCTAGTCATCTAAGATATTGTAACAAAGCTTAAATCTCACATTGACCTAAAAATTACTGTTTTATAATCTTCTTAACATATCTCCTGTACACGGAACTCTTCAATATTCTAGTGAGTGACATGCTGTCAGTGTCTTTAGCAGTATTCTTTCTTCCCCAGTAATTTTGTATTATGTTATTTTAGAGCTTTACATGGTAGTATAATCACATTTTATTGTCTTTTAGTAATTCTGGCAAAGTGGTTTTAGAAGCACAATGAAATATGTGTACTTTCAAAGAAGGAAAGTAAAAACATTCTCTTCAAACTCGTTTAAAGCTTTTAAGTCAGACTAGAACATTGAGTCCCAAAAGGGTAAAGTTATGATCTAAAATAAGAACTTATTTTTGCTTCTTTTCTTCAATTTGGAAGTTGTAGTTGTTAGTCATTAAGCGTCCTGGATCCTAGGGTAAAGCTGCTTAGTGTCAGCCTCTGACTTGAACACTTACAAGCCTAGATCATTCATTTTTTATGTGCCTTTCCAAAAAATGGAGTTACAGTGTTTACACTTCATAGGATAAAAACAATAAAAATGAAATCATCACAGAAAACCAAACACCGTATGTTCTCACTTGTAAATGAAAGTTGAACAATGAGAACATGTGGGCACAGGGAGGGAAACATCATACACTGGGACCTTTCACAGGGTTGGGGGTTAGGGGAGGGATAGTATTAGGAGAAATACCTAATGTAGATGACGGGTTGTTGGGTGCAGCAAACCACCGTGGCACATGTATACCTATGTAACAAACCTGCACATTCTGCACATGTATCCCAGAACTTAAAGTATAATTTAAAAAAATGAAATCATCCACAAAAGTACTTACCATGTGTTGGGAATTATGGAAAGCAAACAACTGCTACATTGAAACATGGTCAATGAGTAAAGATATTACATTTTTCTTTCTTCTTCTGTTTAGCAATTATTATACAGATACAAGCCAGAAAGAAGCTTTTCATTTAGAAGCACGAGAAGTATATTCTGTTGATCCATACAACCCAGCCAGCTGATCAGAAGACAAACTGGTGGTATGTAATGAAATGGAATATTATTAATTTACATATAAAATTTCCTTCAACTTGTATTTATCAATAAGCGTAGCATTCACGGTGTATATACATGCTTCTTACTATTGCACAAGTCTTCAGTAATCATGCATAGCAATTGTTCATTTACCTACTTCATTTTGCCAACTAATGTTCCAATTTTTTAATCCATTCATCCATTCAACAAATATTAAACTAAATAGCAAAACAACTAAGAATAAAATCAATAAGATGATAAGCATTATATAGAGACATAATAAAGCAGGCAAGGGGGATAAAGAGAACAGGGTGGTCGCAAGGGAAGCTCTTACTAAGAGAATGTCATTTGAGAAAAAACTCAAGGGAAGTAAAGAGCCAGGGCCGGCCTTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCATTTGAGGTCAAGAGTTCGAGACCACTCTGTTCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAAGCGTGGTGGTGTGCACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTAGGAGGCGGAGGTTGCAGTGAGCCAAGACTGCGCCACTGTACCCCAGCCTGGACAACAGAGCAAGACTGCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCCAGCCATGTGGCCATATGAGGGAGGAGGATTCCAGAAAGAACAGTAGGTGCAAAGGCCATAAGGCAGTGTGTGCCAGCTGTGTTGGCGGCACAGCAAGGAGGCCAGTGTGGCCTACAGTTGTAGAGATGAAGTCACAGAGATGGGGGTGGGATGTGGGCGAGAGGATGATCGTACAAAGTCTGCTATGTCATTGTAATGGGATGGTGGGCAGGAGAGGATGATTGTATAAAGTGTGCTAGGTCATGGTAAAGAGATTGGTTTTTATTTGGAAGCTTTTAAGGAGAGGAGCAACACATTCACCTTAACTGCTGTGTTAAGAACAGACTGTAGGAAGCCATGGGTGGAAGATGGGAGTCAATGAGGAGGCTGCTGCAATCATCCAGGCAAGAAATTGTCAGTGGCTACCACCAGGTTGTAAGAAGAGGCCAGATTCTGCATGCAATTTTAAGACAGTGACAGTAGGATTCGTGGATAGTTTGTATCAGAATATGAGAGGAAGAGAGCTGTCAATAATGACACGAGGGCTTTTGCCTAAGCAACTGGAAGGATAGAACTGCCATTAATTACATGATTGAGATTGCAAAGAGCAGGACTGGGGAGAAAAATCAGGAGTTCCACTGTGGAGATGTTAAATGTGGATGTCTAATAGACTTGGCAAGAAGACAGCTGATGTACAAGTCTGTATTTTGGGCAATTGGTCCAGGCTGGAGATAAAAATTTGGGCTTTGTCATCATGTGGTTGTACATAACAAGGAGACTGAATAAGATCTCCGAGAAGTGAAAGAGGCTAGCAAAAAGAAAAGGTCCAAGTACTGAGCCCTGGATCCTCCAACATTAGAAGTCATGGAGTGAGAAGGCACCCACTAAGAAGTGAAGGAGCAGCCTCTGATACTATCCAGAGAAGAACCTTAAAGTCAGGCAAAGAAAGAATTTTAGGGAGGAGGGAGTGATCAACTCTGTCCAGTGTTGCTGGTAGGCCAAAAAAATGAGCCCTGAAAACTGACCATTGAAATTCAGTAGCACAATTTTTTTGCTGTTGTTGTTTGAGACAGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGCCTCTACTTCCTAGGTTCAAGTGATTCTCATGCCTCAGTCTCCTGAGTAGCTGGGATTATAGGCAAGCAGCACAAAATTTGCTGCTGAACTTGACAAGACAGTTTTTGAAGAGAGGAAGGAGGCAGGAGCCTGA
|
GCCTATGGGGTTCTGGCTGTCCTGTACAGTTAGCGTGTACTTAGAGTGTAGAGTTTACCAGAGTGTGTACCACACAACCCTGCTTTCATGAATGACTTCAGAAAAAAAGGGTGTTCTATGGCAAATAAGATTTGGACATACTGCACACTGTTTTTTTTTCTTGTGGAGAATCACAAGGACCATGAGAATATTTAATAAGAGGTTTTTTGCTATCAAGAGGACAGGATTTCCAGGACTTGGTGACATGCTGGATGTGGGGAGAAGGAGGCACATAGAATGGCTCACATGAAGGCGATGAGGTGGACCCCCTGACTCACTAAAAGAGGAGAGGGGCAGGATTTGTGGGGGAAGATGAGGAGTTCGGTTCTGACCTGGTACTTTGAGGTACTCATGATTTAGGGCTTGGGAGAAGGGTCTGGACTCGGGTGGGTGACACTTAAATCACAATGAAAGCTGTGGAACCAAAAAGAACAGAACAGATAAAAATTGGGATGAGAACAGCCCTCAGAAGAACAGTAATGTTCAAAAGGCAGAAAGTGAAGGAAGAGAGGCAGGGGGAAAACTAGCAGAGAGTAGCGTCACAGAATTCAAGGAGAAAAGGGTCTCAAAAAAAATTAGGGATGTCATTTGCAGGGCCTTCCTCATAGGAAGTCACAAGATAATTTCAGCCAAGAGGCATTAGAAATGTAAATACATAGAAAATACAGTCTCTATCTCTTTCCTTCATGCTACTGAGTTTGCTATCAGAGCACTGCATGTGTATAAAAATTTGCAAATTTGGGGAATGCTTACAAGTGCAAATAATTTATAATATTCCAGTCTAATTATTGTTTATTAATATGATTATATCATGTACTATACTTAAGTGCCTCAACTGATATGAAGCAAACATACCTGTTTAACCAGATTCCTAGTTGCCATTCATTTATTTCCATTTGCTAACCCACTTCAATTGATTTTCCAATAATTGATAAAGACACTTGAATGGCCTGAAATGCTTTTTTAAATGAGATGAGTAATCATTTAAAAATGAATGTCTAGTGACAATATTAAATATTTTGAAAAGCCATCTAAACACTTGAAAGACACTATGCTATTCTTTTCTAGTCATCTAAGATATTGTAACAAAGCTTAAATCTCACATTGACCTAAAAATTACTGTTTTATAATCTTCTTAACATATCTCCTGTACACGGAACTCTTCAATATTCTAGTGAGTGACATGCTGTCAGTGTCTTTAGCAGTATTCTTTCTTCCCCAGTAATTTTGTATTATGTTATTTTAGAGCTTTACATGGTAGTATAATCACATTTTATTGTCTTTTAGTAATTCTGGCAAAGTGGTTTTAGAAGCACAATGAAATATGTGTACTTTCAAAGAAGGAAAGTAAAAACATTCTCTTCAAACTCGTTTAAAGCTTTTAAGTCAGACTAGAACATTGAGTCCCAAAAGGGTAAAGTTATGATCTAAAATAAGAACTTATTTTTGCTTCTTTTCTTCAATTTGGAAGTTGTAGTTGTTAGTCATTAAGCGTCCTGGATCCTAGGGTAAAGCTGCTTAGTGTCAGCCTCTGACTTGAACACTTACAAGCCTAGATCATTCATTTTTTATGTGCCTTTCCAAAAAATGGAGTTACAGTGTTTACACTTCATAGGATAAAAACAATAAAAATGAAATCATCACAGAAAACCAAACACCGTATGTTCTCACTTGTAAATGAAAGTTGAACAATGAGAACATGTGGGCACAGGGAGGGAAACATCATACACTGGGACCTTTCACAGGGTTGGGGGTTAGGGGAGGGATAGTATTAGGAGAAATACCTAATGTAGATGACGGGTTGTTGGGTGCAGCAAACCACCGTGGCACATGTATACCTATGTAACAAACCTGCACATTCTGCACATGTATCCCAGAACTTAAAGTATAATTTAAAAAAATGAAATCATCCACAAAAGTACTTACCATGTGTTGGGAATTATGGAAAGCAAACAACTGCTACATTGAAACATGGTCAATGAGTAAAGATATTACATTTTTCTTTCTTCTTGTTTAGCAATTATTATACAGATACAAGCCAGAAAGAAGCTTTTCATTTAGAAGCACGAGAAGTATATTCTGTTGATCCATACAACCCAGCCAGCTGATCAGAAGACAAACTGGTGGTATGTAATGAAATGGAATATTATTAATTTACATATAAAATTTCCTTCAACTTGTATTTATCAATAAGCGTAGCATTCACGGTGTATATACATGCTTCTTACTATTGCACAAGTCTTCAGTAATCATGCATAGCAATTGTTCATTTACCTACTTCATTTTGCCAACTAATGTTCCAATTTTTTAATCCATTCATCCATTCAACAAATATTAAACTAAATAGCAAAACAACTAAGAATAAAATCAATAAGATGATAAGCATTATATAGAGACATAATAAAGCAGGCAAGGGGGATAAAGAGAACAGGGTGGTCGCAAGGGAAGCTCTTACTAAGAGAATGTCATTTGAGAAAAAACTCAAGGGAAGTAAAGAGCCAGGGCCGGCCTTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCATTTGAGGTCAAGAGTTCGAGACCACTCTGTTCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAAGCGTGGTGGTGTGCACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTAGGAGGCGGAGGTTGCAGTGAGCCAAGACTGCGCCACTGTACCCCAGCCTGGACAACAGAGCAAGACTGCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCCAGCCATGTGGCCATATGAGGGAGGAGGATTCCAGAAAGAACAGTAGGTGCAAAGGCCATAAGGCAGTGTGTGCCAGCTGTGTTGGCGGCACAGCAAGGAGGCCAGTGTGGCCTACAGTTGTAGAGATGAAGTCACAGAGATGGGGGTGGGATGTGGGCGAGAGGATGATCGTACAAAGTCTGCTATGTCATTGTAATGGGATGGTGGGCAGGAGAGGATGATTGTATAAAGTGTGCTAGGTCATGGTAAAGAGATTGGTTTTTATTTGGAAGCTTTTAAGGAGAGGAGCAACACATTCACCTTAACTGCTGTGTTAAGAACAGACTGTAGGAAGCCATGGGTGGAAGATGGGAGTCAATGAGGAGGCTGCTGCAATCATCCAGGCAAGAAATTGTCAGTGGCTACCACCAGGTTGTAAGAAGAGGCCAGATTCTGCATGCAATTTTAAGACAGTGACAGTAGGATTCGTGGATAGTTTGTATCAGAATATGAGAGGAAGAGAGCTGTCAATAATGACACGAGGGCTTTTGCCTAAGCAACTGGAAGGATAGAACTGCCATTAATTACATGATTGAGATTGCAAAGAGCAGGACTGGGGAGAAAAATCAGGAGTTCCACTGTGGAGATGTTAAATGTGGATGTCTAATAGACTTGGCAAGAAGACAGCTGATGTACAAGTCTGTATTTTGGGCAATTGGTCCAGGCTGGAGATAAAAATTTGGGCTTTGTCATCATGTGGTTGTACATAACAAGGAGACTGAATAAGATCTCCGAGAAGTGAAAGAGGCTAGCAAAAAGAAAAGGTCCAAGTACTGAGCCCTGGATCCTCCAACATTAGAAGTCATGGAGTGAGAAGGCACCCACTAAGAAGTGAAGGAGCAGCCTCTGATACTATCCAGAGAAGAACCTTAAAGTCAGGCAAAGAAAGAATTTTAGGGAGGAGGGAGTGATCAACTCTGTCCAGTGTTGCTGGTAGGCCAAAAAAATGAGCCCTGAAAACTGACCATTGAAATTCAGTAGCACAATTTTTTTGCTGTTGTTGTTTGAGACAGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGCCTCTACTTCCTAGGTTCAAGTGATTCTCATGCCTCAGTCTCCTGAGTAGCTGGGATTATAGGCAAGCAGCACAAAATTTGCTGCTGAACTTGACAAGACAGTTTTTGAAGAGAGGAAGGAGGCAGGAGCCTGANN
|
benign
| 21,102
|
Determine whether the variant at chromosome 1, position 207757219, in gene CD46 (CD46 molecule) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
benign
|
AATAGGAAGCTGAAGAAGATAATGAAAGCGATTTGAAATAGAGGAACATAGAATTATGAAATGAATAGGGTGCAACATGGAAAATAACAAAACTAAGAATGAAGAGAAGGAAAAGCAAGGTTAAGTTTGAGGTTCATAAGGGTAAATCAAGACAGGTATGAAACCTAGAGAAAGTAAAAATGAGAAGTCACGATGCTAGGCAGAGAGAATACGTGAATTAAAATAAACATTCAATTTTTGGAGCAACTCACTCTCACAAGGAGAAGGTTTCGTAAGCAGACAGTGCTGTGCATGGGAGACCTGCCCTCTCAAAGGTAGTTGCCAAATGGTTCCAGATAGTTGAAGGAAACATGTATCAAATTTCAGGCCAGTCTCATTCCTCCAGAAGAGGAGCTGCTTTTTTGGACAAAACCCGCAATCTCCTGTTGTGCGTGGTCTCTTCTGCCTATTTTAGGTGTTTTCCTTATTTCCAGTGAAAGAAGCCAAGATCAGTAAGCACTTACACAGTAGCGTCTCAGTTTCCTTACTGGGCATACTACAATGCAAAGAGAGCAGTCCATATCTGGTCACCTGCCAGGATACCAGAAGACTGGGAGATAGGCAGCACAAGAAATGGCCTAATCTTCTTTCTCCATTGTGCTGTAGAATGATTATTTTCAATATGAAATTGATTACAATATATTCTTCACATTGTTTTGTGTTTGACAGCAGTGGATTTTGAATACCAAATTTTTTTTGAATAGCTACTCTGAGTGACATATTGTGCTGGGTGTTGTGGCCACATGGATGAATGGAGTTGGCCTTGTTAACTATTAAACACAAAAGCATGTGATAGTTACCTGAGAGATCCATGCAGGGGAGAGTCCAGGGGAAGGTGACTGATCACTGCTTCCCAGGGGGAGGCAGAAAATGCTTCCTGGAGGAGATGATGGGTGGATTAAGGAAGATGAGTTGAGCAGGAGTTGTAGCTACCAGCCAGGGAGGAAGGGTATTCAGAGCAGAGGAAGCAAGGTGAGCAAAGGCACCAAGATGTGACACTACTGGACTGCCAAGCTATTCAGTGTGGCAGAGTAGGGCAAAGGAGGCAAGAAAGAAGGAAGAGGATTAAATCACAGGGTGAGTAATTCTGAAAAGCAACAGACTCATCAGGAGTAAACACTCACCATCATAAATTCAGACTTTCACGTTATTACCTGTCCTTTTAGGGCAACTTGAGCCTTTTGTTTGACTTAGCACAACATGAATCCAAACTAGGGTTGTTTTGATTTTCCCAGGCACGGTAGCAGACAATTTCTTGAATACTTATTTGCAGATAGAGTTTGTCAGTGTCAGCATTTCTTGTGCACCCACAAGGTGAGTATAGTAGAAAAAGAAGAACATGGTTCTTGACCCCCAGGAACTTGCCTTTTAAGAGAAGACACCCTGAAGTGACAAGCTGTTATAAGTTAGTGTTTTAAACTATGGAAGAACAATCTGAGCAGAGTACTCTATACTGTAGAAGACTTCTTAGAGGAGAAGTTACTTTTGAAATGAATTTAGAAAAATGTGGGGAAAGATGCATCCATATATATTTTAAGATCAAAGACATTAATGCTGTCTCTTCAGTTTATTGTCGAATGTTTATTCCCAAACAAACCAAAAGCTAATAGGATGTTACTTAAAACATGCAAGTCCCATTTCCTCCACTGCTATGAGCACTCAGGTAAAAGCATGGAACAGTCATTTAAAATCTTGCCAAGGGCCTTTCTGTTTTTTCTGTACTACCTGCTGCCAGACCACAGTCCATGGCTGATGAAAGTGATATCAGTACTTCATCTTCATGTTCCTATTCTCTTATCCCTAGATGCCTGTGAGGAGCCACCAACATTTGAAGCTATGGAGCTCATTGGTAAACCAAAACCCTACTATGAGATTGGTGAACGAGTAGATTATAAGTGTAAAAAAGGATACTTCTATATACCTCCTCTTGCCACCCATACTATTTGTGATCGGAATCATACATGGCTACCTGTCTCAGATGACGCCTGTTATAGTAAGTAAACAAACCTCTTTTTTTTTTCTGCTTGCTCTAGAGATTTGCATACATTTTGGGGTACATATTCCACTACGGTGATGATGATTTTCTTCTTGTAAAATGAGGTTCAAGATAACAATGCATTTTTGCAAGCTTTGAGAAATCAAAATCTCCAAGAAATCATTTTCCTGGCAATAGATTGCCTGGGTGAATATGAATCTTAAGTTTGCCCTTATAATAAGTAAATAATGAAAATTATATTCCCACCCATTCAAAAGAGCACTGCAGAATTTTGATTTTGATTCAGATCTGTTTTATAACTGGATTGAAAACTATCAAAATTATTTTCTTTCAGGAGAAACATGTCCATATATACGGGATCCTTTAAATGGCCAAGCAGTCCCTGCAAATGGGACTTACGAGTTTGGTTATCAGATGCACTTTATTTGTAATGAGGGGTAAGTTGCTCCTTAGAGGAAATAAGGGAAGTGTTAGTAATTTTATTTTTGTTTTGCTTCTCTTCTTAAGCATTCCTGTAAACTTAATTTTGCTTTCTATGTGACAAGTTATACTTCTAGCCAAACAACTCTTGGATGTTTTATGGAGATAGGCAAGATATATAGTAAATAGAAAGTAATTGATATTTAAGGAAAGCAAAACTACTTGCTGTTTCTGACAATAAGTCTGTTGTAAGCATTAAGAATGTAGTAATCATGAGAATTTGTCCTTCACAACTGAGTGTCCCCTATTTAAATCTGCCAACTCTTAGAGTTGAAGTAGGGCTCACAAAAATGAGAAATAGAATTGCCAACTAAAGATACACTTGTATCCAGATGACTCTGTAAAGTGTTATCAGACCAAAACTGACGCGGTTAGCCTTTACCATCATGTTGATCAAAATCTCTCAGTTGAAAAACCTTATTTTTGAGACTGCTACAGTGTGAAGCATCTCAAGAGCAGGTACTGAGCCCTCGGTAATAGCCTTTGTTCTGTAGGGTTTTGAAGTTGTATATATTGGAGATACTAGACATTTAAGATAAATGTGCATTTATAGAGTAAATGTAAGTATTCTGCTATAACAGAATACTTGAGGCTAGGCATTTATAAAGAAAAGAAATGTATTTGGCTCATATTTCTGGAGGCTGGAGAGTTCAAGGGGATGGCAGTAGTGTCTGGCAAGGGCTTTTGTGCTGCATCATAACATGCTGGAAAGTGAAAGGGAAATTTAGCATGTGCAAAAAAGACAAAGCACAAGGGAGGGGGTTCTCGCTTTATAACAACGTGCTCTTATGGTAATGAATCCAAGCCTACAAGAATGAGAACTCATTCCCTGAAGAATTAATGAAGACCCTCTAGAAAGGCATTATACCTCTTAATGACCTAGTCATTTCTTAAAGGCCCCACCACCTCTCAATGCTGTTACACTGGCAATTAAATTTCAATATGAGTTTTGGTAGAGACAAACCAGATTCAAACAATAGCAGTAACACACCATAATATAGAAAAAGTAAGTGAGTCTTGGAGGAAAAATCAGCTGTGACTATGTAAGGCAACTGACAGTTTTTAAAATTTGGTCAAGTAGAAATATTGGAATATTCAGTTGACACATACTGCTTGCTAGGCACACCGAGGGATACCAAAACTTTAAGACAGTGACCTTCCTAAAAGAAGTTCTAACCTTATTGAGAAATAATATATACTGAGAGCAATAAAAGCAAAATACTAAATGAGAAATACCAAATAAGTAGAATTATTCATGATAATTACTCTAAGAGTCCAGAAGGAGGAGAGATTCCTGTGAATTTAAATCAGGGAAGATTTCATTGAGTATAGGGGTATACTTAATGAAAGTATTCTTATACTCAGTGAGCTATTCCTAGAAATACACTCTGTTCTAAATAATATTAATAGAAGCTAAAACTCATGTAGCACTATCTATGTGCCAAATGCTAACTTATCTAATCCCCTAAACAACCCCATGTACTGTTATCCCCTTTTAATCAATTAGGAAGCTGAGTGAAGGAACTTTAAGTGACTTACCCAAGCTCAAGAAACTAGATAAGTTGAGAAGCAGGGACTTGA
|
AATAGGAAGCTGAAGAAGATAATGAAAGCGATTTGAAATAGAGGAACATAGAATTATGAAATGAATAGGGTGCAACATGGAAAATAACAAAACTAAGAATGAAGAGAAGGAAAAGCAAGGTTAAGTTTGAGGTTCATAAGGGTAAATCAAGACAGGTATGAAACCTAGAGAAAGTAAAAATGAGAAGTCACGATGCTAGGCAGAGAGAATACGTGAATTAAAATAAACATTCAATTTTTGGAGCAACTCACTCTCACAAGGAGAAGGTTTCGTAAGCAGACAGTGCTGTGCATGGGAGACCTGCCCTCTCAAAGGTAGTTGCCAAATGGTTCCAGATAGTTGAAGGAAACATGTATCAAATTTCAGGCCAGTCTCATTCCTCCAGAAGAGGAGCTGCTTTTTTGGACAAAACCCGCAATCTCCTGTTGTGCGTGGTCTCTTCTGCCTATTTTAGGTGTTTTCCTTATTTCCAGTGAAAGAAGCCAAGATCAGTAAGCACTTACACAGTAGCGTCTCAGTTTCCTTACTGGGCATACTACAATGCAAAGAGAGCAGTCCATATCTGGTCACCTGCCAGGATACCAGAAGACTGGGAGATAGGCAGCACAAGAAATGGCCTAATCTTCTTTCTCCATTGTGCTGTAGAATGATTATTTTCAATATGAAATTGATTACAATATATTCTTCACATTGTTTTGTGTTTGACAGCAGTGGATTTTGAATACCAAATTTTTTTTGAATAGCTACTCTGAGTGACATATTGTGCTGGGTGTTGTGGCCACATGGATGAATGGAGTTGGCCTTGTTAACTATTAAACACAAAAGCATGTGATAGTTACCTGAGAGATCCATGCAGGGGAGAGTCCAGGGGAAGGTGACTGATCACTGCTTCCCAGGGGGAGGCAGAAAATGCTTCCTGGAGGAGATGATGGGTGGATTAAGGAAGATGAGTTGAGCAGGAGTTGTAGCTACCAGCCAGGGAGGAAGGGTATTCAGAGCAGAGGAAGCAAGGTGAGCAAAGGCACCAAGATGTGACACTACTGGACTGCCAAGCTATTCAGTGTGGCAGAGTAGGGCAAAGGAGGCAAGAAAGAAGGAAGAGGATTAAATCACAGGGTGAGTAATTCTGAAAAGCAACAGACTCATCAGGAGTAAACACTCACCATCATAAATTCAGACTTTCACGTTATTACCTGTCCTTTTAGGGCAACTTGAGCCTTTTGTTTGACTTAGCACAACATGAATCCAAACTAGGGTTGTTTTGATTTTCCCAGGCACGGTAGCAGACAATTTCTTGAATACTTATTTGCAGATAGAGTTTGTCAGTGTCAGCATTTCTTGTGCACCCACAAGGTGAGTATAGTAGAAAAAGAAGAACATGGTTCTTGACCCCCAGGAACTTGCCTTTTAAGAGAAGACACCCTGAAGTGACAAGCTGTTATAAGTTAGTGTTTTAAACTATGGAAGAACAATCTGAGCAGAGTACTCTATACTGTAGAAGACTTCTTAGAGGAGAAGTTACTTTTGAAATGAATTTAGAAAAATGTGGGGAAAGATGCATCCATATATATTTTAAGATCAAAGACATTAATGCTGTCTCTTCAGTTTATTGTCGAATGTTTATTCCCAAACAAACCAAAAGCTAATAGGATGTTACTTAAAACATGCAAGTCCCATTTCCTCCACTGCTATGAGCACTCAGGTAAAAGCATGGAACAGTCATTTAAAATCTTGCCAAGGGCCTTTCTGTTTTTTCTGTACTACCTGCTGCCAGACCACAGTCCATGGCTGATGAAAGTGATATCAGTACTTCATCTTCATGTTCCTATTCTCTTATCCCTAGATGCCTGTGAGGAGCCACCAACATTTGAAGCTATGGAGCTCATTGGTAAACCAAAACCCTACTATGAGATTGGTGAACGAGTAGATTATAAGTGTAAAAAAGGATACTTCTATATACCTCCTCTTGCCACCCATACTATTTGTGATCGGAATCATACATGGCTACCTGTCTCAGATGACGCCTGTTATAGTAAGTAAACAAACCTCTTTTTTTTTCTGCTTGCTCTAGAGATTTGCATACATTTTGGGGTACATATTCCACTACGGTGATGATGATTTTCTTCTTGTAAAATGAGGTTCAAGATAACAATGCATTTTTGCAAGCTTTGAGAAATCAAAATCTCCAAGAAATCATTTTCCTGGCAATAGATTGCCTGGGTGAATATGAATCTTAAGTTTGCCCTTATAATAAGTAAATAATGAAAATTATATTCCCACCCATTCAAAAGAGCACTGCAGAATTTTGATTTTGATTCAGATCTGTTTTATAACTGGATTGAAAACTATCAAAATTATTTTCTTTCAGGAGAAACATGTCCATATATACGGGATCCTTTAAATGGCCAAGCAGTCCCTGCAAATGGGACTTACGAGTTTGGTTATCAGATGCACTTTATTTGTAATGAGGGGTAAGTTGCTCCTTAGAGGAAATAAGGGAAGTGTTAGTAATTTTATTTTTGTTTTGCTTCTCTTCTTAAGCATTCCTGTAAACTTAATTTTGCTTTCTATGTGACAAGTTATACTTCTAGCCAAACAACTCTTGGATGTTTTATGGAGATAGGCAAGATATATAGTAAATAGAAAGTAATTGATATTTAAGGAAAGCAAAACTACTTGCTGTTTCTGACAATAAGTCTGTTGTAAGCATTAAGAATGTAGTAATCATGAGAATTTGTCCTTCACAACTGAGTGTCCCCTATTTAAATCTGCCAACTCTTAGAGTTGAAGTAGGGCTCACAAAAATGAGAAATAGAATTGCCAACTAAAGATACACTTGTATCCAGATGACTCTGTAAAGTGTTATCAGACCAAAACTGACGCGGTTAGCCTTTACCATCATGTTGATCAAAATCTCTCAGTTGAAAAACCTTATTTTTGAGACTGCTACAGTGTGAAGCATCTCAAGAGCAGGTACTGAGCCCTCGGTAATAGCCTTTGTTCTGTAGGGTTTTGAAGTTGTATATATTGGAGATACTAGACATTTAAGATAAATGTGCATTTATAGAGTAAATGTAAGTATTCTGCTATAACAGAATACTTGAGGCTAGGCATTTATAAAGAAAAGAAATGTATTTGGCTCATATTTCTGGAGGCTGGAGAGTTCAAGGGGATGGCAGTAGTGTCTGGCAAGGGCTTTTGTGCTGCATCATAACATGCTGGAAAGTGAAAGGGAAATTTAGCATGTGCAAAAAAGACAAAGCACAAGGGAGGGGGTTCTCGCTTTATAACAACGTGCTCTTATGGTAATGAATCCAAGCCTACAAGAATGAGAACTCATTCCCTGAAGAATTAATGAAGACCCTCTAGAAAGGCATTATACCTCTTAATGACCTAGTCATTTCTTAAAGGCCCCACCACCTCTCAATGCTGTTACACTGGCAATTAAATTTCAATATGAGTTTTGGTAGAGACAAACCAGATTCAAACAATAGCAGTAACACACCATAATATAGAAAAAGTAAGTGAGTCTTGGAGGAAAAATCAGCTGTGACTATGTAAGGCAACTGACAGTTTTTAAAATTTGGTCAAGTAGAAATATTGGAATATTCAGTTGACACATACTGCTTGCTAGGCACACCGAGGGATACCAAAACTTTAAGACAGTGACCTTCCTAAAAGAAGTTCTAACCTTATTGAGAAATAATATATACTGAGAGCAATAAAAGCAAAATACTAAATGAGAAATACCAAATAAGTAGAATTATTCATGATAATTACTCTAAGAGTCCAGAAGGAGGAGAGATTCCTGTGAATTTAAATCAGGGAAGATTTCATTGAGTATAGGGGTATACTTAATGAAAGTATTCTTATACTCAGTGAGCTATTCCTAGAAATACACTCTGTTCTAAATAATATTAATAGAAGCTAAAACTCATGTAGCACTATCTATGTGCCAAATGCTAACTTATCTAATCCCCTAAACAACCCCATGTACTGTTATCCCCTTTTAATCAATTAGGAAGCTGAGTGAAGGAACTTTAAGTGACTTACCCAAGCTCAAGAAACTAGATAAGTTGAGAAGCAGGGACTTGAN
|
benign
| 21,114
|
Variant on chromosome 1, at position 207757602, affecting CD46 (CD46 molecule): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Atypical_hemolytic-uremic_syndrome_with_MCP/CD46_anomaly']
|
AGAAGAGGAGCTGCTTTTTTGGACAAAACCCGCAATCTCCTGTTGTGCGTGGTCTCTTCTGCCTATTTTAGGTGTTTTCCTTATTTCCAGTGAAAGAAGCCAAGATCAGTAAGCACTTACACAGTAGCGTCTCAGTTTCCTTACTGGGCATACTACAATGCAAAGAGAGCAGTCCATATCTGGTCACCTGCCAGGATACCAGAAGACTGGGAGATAGGCAGCACAAGAAATGGCCTAATCTTCTTTCTCCATTGTGCTGTAGAATGATTATTTTCAATATGAAATTGATTACAATATATTCTTCACATTGTTTTGTGTTTGACAGCAGTGGATTTTGAATACCAAATTTTTTTTGAATAGCTACTCTGAGTGACATATTGTGCTGGGTGTTGTGGCCACATGGATGAATGGAGTTGGCCTTGTTAACTATTAAACACAAAAGCATGTGATAGTTACCTGAGAGATCCATGCAGGGGAGAGTCCAGGGGAAGGTGACTGATCACTGCTTCCCAGGGGGAGGCAGAAAATGCTTCCTGGAGGAGATGATGGGTGGATTAAGGAAGATGAGTTGAGCAGGAGTTGTAGCTACCAGCCAGGGAGGAAGGGTATTCAGAGCAGAGGAAGCAAGGTGAGCAAAGGCACCAAGATGTGACACTACTGGACTGCCAAGCTATTCAGTGTGGCAGAGTAGGGCAAAGGAGGCAAGAAAGAAGGAAGAGGATTAAATCACAGGGTGAGTAATTCTGAAAAGCAACAGACTCATCAGGAGTAAACACTCACCATCATAAATTCAGACTTTCACGTTATTACCTGTCCTTTTAGGGCAACTTGAGCCTTTTGTTTGACTTAGCACAACATGAATCCAAACTAGGGTTGTTTTGATTTTCCCAGGCACGGTAGCAGACAATTTCTTGAATACTTATTTGCAGATAGAGTTTGTCAGTGTCAGCATTTCTTGTGCACCCACAAGGTGAGTATAGTAGAAAAAGAAGAACATGGTTCTTGACCCCCAGGAACTTGCCTTTTAAGAGAAGACACCCTGAAGTGACAAGCTGTTATAAGTTAGTGTTTTAAACTATGGAAGAACAATCTGAGCAGAGTACTCTATACTGTAGAAGACTTCTTAGAGGAGAAGTTACTTTTGAAATGAATTTAGAAAAATGTGGGGAAAGATGCATCCATATATATTTTAAGATCAAAGACATTAATGCTGTCTCTTCAGTTTATTGTCGAATGTTTATTCCCAAACAAACCAAAAGCTAATAGGATGTTACTTAAAACATGCAAGTCCCATTTCCTCCACTGCTATGAGCACTCAGGTAAAAGCATGGAACAGTCATTTAAAATCTTGCCAAGGGCCTTTCTGTTTTTTCTGTACTACCTGCTGCCAGACCACAGTCCATGGCTGATGAAAGTGATATCAGTACTTCATCTTCATGTTCCTATTCTCTTATCCCTAGATGCCTGTGAGGAGCCACCAACATTTGAAGCTATGGAGCTCATTGGTAAACCAAAACCCTACTATGAGATTGGTGAACGAGTAGATTATAAGTGTAAAAAAGGATACTTCTATATACCTCCTCTTGCCACCCATACTATTTGTGATCGGAATCATACATGGCTACCTGTCTCAGATGACGCCTGTTATAGTAAGTAAACAAACCTCTTTTTTTTTTCTGCTTGCTCTAGAGATTTGCATACATTTTGGGGTACATATTCCACTACGGTGATGATGATTTTCTTCTTGTAAAATGAGGTTCAAGATAACAATGCATTTTTGCAAGCTTTGAGAAATCAAAATCTCCAAGAAATCATTTTCCTGGCAATAGATTGCCTGGGTGAATATGAATCTTAAGTTTGCCCTTATAATAAGTAAATAATGAAAATTATATTCCCACCCATTCAAAAGAGCACTGCAGAATTTTGATTTTGATTCAGATCTGTTTTATAACTGGATTGAAAACTATCAAAATTATTTTCTTTCAGGAGAAACATGTCCATATATACGGGATCCTTTAAATGGCCAAGCAGTCCCTGCAAATGGGACTTACGAGTTTGGTTATCAGATGCACTTTATTTGTAATGAGGGGTAAGTTGCTCCTTAGAGGAAATAAGGGAAGTGTTAGTAATTTTATTTTTGTTTTGCTTCTCTTCTTAAGCATTCCTGTAAACTTAATTTTGCTTTCTATGTGACAAGTTATACTTCTAGCCAAACAACTCTTGGATGTTTTATGGAGATAGGCAAGATATATAGTAAATAGAAAGTAATTGATATTTAAGGAAAGCAAAACTACTTGCTGTTTCTGACAATAAGTCTGTTGTAAGCATTAAGAATGTAGTAATCATGAGAATTTGTCCTTCACAACTGAGTGTCCCCTATTTAAATCTGCCAACTCTTAGAGTTGAAGTAGGGCTCACAAAAATGAGAAATAGAATTGCCAACTAAAGATACACTTGTATCCAGATGACTCTGTAAAGTGTTATCAGACCAAAACTGACGCGGTTAGCCTTTACCATCATGTTGATCAAAATCTCTCAGTTGAAAAACCTTATTTTTGAGACTGCTACAGTGTGAAGCATCTCAAGAGCAGGTACTGAGCCCTCGGTAATAGCCTTTGTTCTGTAGGGTTTTGAAGTTGTATATATTGGAGATACTAGACATTTAAGATAAATGTGCATTTATAGAGTAAATGTAAGTATTCTGCTATAACAGAATACTTGAGGCTAGGCATTTATAAAGAAAAGAAATGTATTTGGCTCATATTTCTGGAGGCTGGAGAGTTCAAGGGGATGGCAGTAGTGTCTGGCAAGGGCTTTTGTGCTGCATCATAACATGCTGGAAAGTGAAAGGGAAATTTAGCATGTGCAAAAAAGACAAAGCACAAGGGAGGGGGTTCTCGCTTTATAACAACGTGCTCTTATGGTAATGAATCCAAGCCTACAAGAATGAGAACTCATTCCCTGAAGAATTAATGAAGACCCTCTAGAAAGGCATTATACCTCTTAATGACCTAGTCATTTCTTAAAGGCCCCACCACCTCTCAATGCTGTTACACTGGCAATTAAATTTCAATATGAGTTTTGGTAGAGACAAACCAGATTCAAACAATAGCAGTAACACACCATAATATAGAAAAAGTAAGTGAGTCTTGGAGGAAAAATCAGCTGTGACTATGTAAGGCAACTGACAGTTTTTAAAATTTGGTCAAGTAGAAATATTGGAATATTCAGTTGACACATACTGCTTGCTAGGCACACCGAGGGATACCAAAACTTTAAGACAGTGACCTTCCTAAAAGAAGTTCTAACCTTATTGAGAAATAATATATACTGAGAGCAATAAAAGCAAAATACTAAATGAGAAATACCAAATAAGTAGAATTATTCATGATAATTACTCTAAGAGTCCAGAAGGAGGAGAGATTCCTGTGAATTTAAATCAGGGAAGATTTCATTGAGTATAGGGGTATACTTAATGAAAGTATTCTTATACTCAGTGAGCTATTCCTAGAAATACACTCTGTTCTAAATAATATTAATAGAAGCTAAAACTCATGTAGCACTATCTATGTGCCAAATGCTAACTTATCTAATCCCCTAAACAACCCCATGTACTGTTATCCCCTTTTAATCAATTAGGAAGCTGAGTGAAGGAACTTTAAGTGACTTACCCAAGCTCAAGAAACTAGATAAGTTGAGAAGCAGGGACTTGAATCTATCCATTCCAGCTCTAGGGCCTGTTCTCTCTACACAGTCCTTGTCCTTACTGTGCAAAGTGGTGTGAGAAAAGGCACAGAAATGAATGTGTAATGTGATTGCAGGAGGCAGCAAAGAGGCTGGGTGGAAAGGCACAGCAGATTTATTTAGACATCTTTGCTCTTGGCCAATATATATTCAAATGGGGAAACTCTATTTGATTAAATTGCAGATTTATTTAGCACTTTCGTTATATAGTATGTTGTTTAAGAAACCACCCCCTCAAACTACTGTAGTGTAGAAAAGAAACCATATAAAAAATTCCTTCATTATTATGTGTGTCTTATTAATTGCTATACAAAACAGTAACCCTTTCTTTTCTCATTTAGTTATTACTTAA
|
AGAAGAGGAGCTGCTTTTTTGGACAAAACCCGCAATCTCCTGTTGTGCGTGGTCTCTTCTGCCTATTTTAGGTGTTTTCCTTATTTCCAGTGAAAGAAGCCAAGATCAGTAAGCACTTACACAGTAGCGTCTCAGTTTCCTTACTGGGCATACTACAATGCAAAGAGAGCAGTCCATATCTGGTCACCTGCCAGGATACCAGAAGACTGGGAGATAGGCAGCACAAGAAATGGCCTAATCTTCTTTCTCCATTGTGCTGTAGAATGATTATTTTCAATATGAAATTGATTACAATATATTCTTCACATTGTTTTGTGTTTGACAGCAGTGGATTTTGAATACCAAATTTTTTTTGAATAGCTACTCTGAGTGACATATTGTGCTGGGTGTTGTGGCCACATGGATGAATGGAGTTGGCCTTGTTAACTATTAAACACAAAAGCATGTGATAGTTACCTGAGAGATCCATGCAGGGGAGAGTCCAGGGGAAGGTGACTGATCACTGCTTCCCAGGGGGAGGCAGAAAATGCTTCCTGGAGGAGATGATGGGTGGATTAAGGAAGATGAGTTGAGCAGGAGTTGTAGCTACCAGCCAGGGAGGAAGGGTATTCAGAGCAGAGGAAGCAAGGTGAGCAAAGGCACCAAGATGTGACACTACTGGACTGCCAAGCTATTCAGTGTGGCAGAGTAGGGCAAAGGAGGCAAGAAAGAAGGAAGAGGATTAAATCACAGGGTGAGTAATTCTGAAAAGCAACAGACTCATCAGGAGTAAACACTCACCATCATAAATTCAGACTTTCACGTTATTACCTGTCCTTTTAGGGCAACTTGAGCCTTTTGTTTGACTTAGCACAACATGAATCCAAACTAGGGTTGTTTTGATTTTCCCAGGCACGGTAGCAGACAATTTCTTGAATACTTATTTGCAGATAGAGTTTGTCAGTGTCAGCATTTCTTGTGCACCCACAAGGTGAGTATAGTAGAAAAAGAAGAACATGGTTCTTGACCCCCAGGAACTTGCCTTTTAAGAGAAGACACCCTGAAGTGACAAGCTGTTATAAGTTAGTGTTTTAAACTATGGAAGAACAATCTGAGCAGAGTACTCTATACTGTAGAAGACTTCTTAGAGGAGAAGTTACTTTTGAAATGAATTTAGAAAAATGTGGGGAAAGATGCATCCATATATATTTTAAGATCAAAGACATTAATGCTGTCTCTTCAGTTTATTGTCGAATGTTTATTCCCAAACAAACCAAAAGCTAATAGGATGTTACTTAAAACATGCAAGTCCCATTTCCTCCACTGCTATGAGCACTCAGGTAAAAGCATGGAACAGTCATTTAAAATCTTGCCAAGGGCCTTTCTGTTTTTTCTGTACTACCTGCTGCCAGACCACAGTCCATGGCTGATGAAAGTGATATCAGTACTTCATCTTCATGTTCCTATTCTCTTATCCCTAGATGCCTGTGAGGAGCCACCAACATTTGAAGCTATGGAGCTCATTGGTAAACCAAAACCCTACTATGAGATTGGTGAACGAGTAGATTATAAGTGTAAAAAAGGATACTTCTATATACCTCCTCTTGCCACCCATACTATTTGTGATCGGAATCATACATGGCTACCTGTCTCAGATGACGCCTGTTATAGTAAGTAAACAAACCTCTTTTTTTTTTCTGCTTGCTCTAGAGATTTGCATACATTTTGGGGTACATATTCCACTACGGTGATGATGATTTTCTTCTTGTAAAATGAGGTTCAAGATAACAATGCATTTTTGCAAGCTTTGAGAAATCAAAATCTCCAAGAAATCATTTTCCTGGCAATAGATTGCCTGGGTGAATATGAATCTTAAGTTTGCCCTTATAATAAGTAAATAATGAAAATTATATTCCCACCCATTCAAAAGAGCACTGCAGAATTTTGATTTTGATTCAGATCTGTTTTATAACTGGATTGAAAACTATCAAAATTATTTTCTTTCAGGAGAAACATGTCCATATATACGGGATCCTTTAAATGGCCAAGCAGTCCCTGCAAATGGGACTTACACGAGTTTGGTTATCAGATGCACTTTATTTGTAATGAGGGGTAAGTTGCTCCTTAGAGGAAATAAGGGAAGTGTTAGTAATTTTATTTTTGTTTTGCTTCTCTTCTTAAGCATTCCTGTAAACTTAATTTTGCTTTCTATGTGACAAGTTATACTTCTAGCCAAACAACTCTTGGATGTTTTATGGAGATAGGCAAGATATATAGTAAATAGAAAGTAATTGATATTTAAGGAAAGCAAAACTACTTGCTGTTTCTGACAATAAGTCTGTTGTAAGCATTAAGAATGTAGTAATCATGAGAATTTGTCCTTCACAACTGAGTGTCCCCTATTTAAATCTGCCAACTCTTAGAGTTGAAGTAGGGCTCACAAAAATGAGAAATAGAATTGCCAACTAAAGATACACTTGTATCCAGATGACTCTGTAAAGTGTTATCAGACCAAAACTGACGCGGTTAGCCTTTACCATCATGTTGATCAAAATCTCTCAGTTGAAAAACCTTATTTTTGAGACTGCTACAGTGTGAAGCATCTCAAGAGCAGGTACTGAGCCCTCGGTAATAGCCTTTGTTCTGTAGGGTTTTGAAGTTGTATATATTGGAGATACTAGACATTTAAGATAAATGTGCATTTATAGAGTAAATGTAAGTATTCTGCTATAACAGAATACTTGAGGCTAGGCATTTATAAAGAAAAGAAATGTATTTGGCTCATATTTCTGGAGGCTGGAGAGTTCAAGGGGATGGCAGTAGTGTCTGGCAAGGGCTTTTGTGCTGCATCATAACATGCTGGAAAGTGAAAGGGAAATTTAGCATGTGCAAAAAAGACAAAGCACAAGGGAGGGGGTTCTCGCTTTATAACAACGTGCTCTTATGGTAATGAATCCAAGCCTACAAGAATGAGAACTCATTCCCTGAAGAATTAATGAAGACCCTCTAGAAAGGCATTATACCTCTTAATGACCTAGTCATTTCTTAAAGGCCCCACCACCTCTCAATGCTGTTACACTGGCAATTAAATTTCAATATGAGTTTTGGTAGAGACAAACCAGATTCAAACAATAGCAGTAACACACCATAATATAGAAAAAGTAAGTGAGTCTTGGAGGAAAAATCAGCTGTGACTATGTAAGGCAACTGACAGTTTTTAAAATTTGGTCAAGTAGAAATATTGGAATATTCAGTTGACACATACTGCTTGCTAGGCACACCGAGGGATACCAAAACTTTAAGACAGTGACCTTCCTAAAAGAAGTTCTAACCTTATTGAGAAATAATATATACTGAGAGCAATAAAAGCAAAATACTAAATGAGAAATACCAAATAAGTAGAATTATTCATGATAATTACTCTAAGAGTCCAGAAGGAGGAGAGATTCCTGTGAATTTAAATCAGGGAAGATTTCATTGAGTATAGGGGTATACTTAATGAAAGTATTCTTATACTCAGTGAGCTATTCCTAGAAATACACTCTGTTCTAAATAATATTAATAGAAGCTAAAACTCATGTAGCACTATCTATGTGCCAAATGCTAACTTATCTAATCCCCTAAACAACCCCATGTACTGTTATCCCCTTTTAATCAATTAGGAAGCTGAGTGAAGGAACTTTAAGTGACTTACCCAAGCTCAAGAAACTAGATAAGTTGAGAAGCAGGGACTTGAATCTATCCATTCCAGCTCTAGGGCCTGTTCTCTCTACACAGTCCTTGTCCTTACTGTGCAAAGTGGTGTGAGAAAAGGCACAGAAATGAATGTGTAATGTGATTGCAGGAGGCAGCAAAGAGGCTGGGTGGAAAGGCACAGCAGATTTATTTAGACATCTTTGCTCTTGGCCAATATATATTCAAATGGGGAAACTCTATTTGATTAAATTGCAGATTTATTTAGCACTTTCGTTATATAGTATGTTGTTTAAGAAACCACCCCCTCAAACTACTGTAGTGTAGAAAAGAAACCATATAAAAAATTCCTTCATTATTATGTGTGTCTTATTAATTGCTATACAAAACAGTAACCCTTTCTTTTCTCATTTAGTTATTACTT
|
pathogenic
| 21,116
|
Variant chromosome 1, position 207767158, gene CD46 (CD46 molecule): benign or pathogenic? Disease(s)?
|
pathogenic; ['Atypical_hemolytic-uremic_syndrome_with_MCP/CD46_anomaly']
|
TTTACCCTATGAATGCAAGATTAGTTCAAATGCAAAAATTAATCAGTGTAATTTGCCACATCAGTAGACTATTAAGGAGAAAAAAAATCATGTGGTTATCTTATTAGATGCAAAAAACAAAGAAAATGTTTGACAGAATTCATCATCTTATTTTTTCATGATAAAACTTCTCAGCAAACTAGGAACAGAAGGGTACTATCTATCTTACCCTGATAACAGACATCTACAAAAATCTCACAGCTAACATTACACTTCATGGTTCAAAAAAATTATACTTAGTGGTAAAAAGTAACATTGTACTTAGTGGTTAAAAAAACCTTACTTACATTTCTGTCTAATTAATAAAGACCTAATTCTGGAAGGAAAACAGTGAGGATGTCCACTCTTACCACTCCATTCAGCATTATATTGGAGATCCCACCCAGTACAGTAAGGCAAGAGAAAGCTATTAGGCACACATGTTGGAAAAGAAGAAATAAAAACTGTCTCTACTCACAATGAGATGCCACTAAATACCTATTGGAAAGGCCGAAATGTAAACACACACACCCCAAACTGACAATACCAGGTATTGACAAGGATATGGAGCAGATGAAACTCTCATATACTGATGGTGAGAATCAAAGTGCAATGACCACTTTGGGACATTTTTGGCATTTCTTATAAAGTTAAACATACTCTTATCATACAACTCGGCAACCCAAATAAACTGAAAACATTTTCACACAGAAACTTATATGAGGATGTTCACAGCAGCCTTATTCATAATCACCCCAAACTGCAAATCGCCACATGTTCTTGAGTTGGTGAATGAATGAACCACCTGTGCTACCTCTAAAAGATGGACTCGTACTCAGCAATAAAAAGGAATGAACTGATTCATGCAGCAACACAAATGAATTTTGAAAGCATCATGCTTAGTGAAATAAGCCATACTAAGAAGACTGTAATTTCATTTATGTGACATTCTGAAAAAGTCCCACTATAGGGATAAAAGCAGATCAATGGTTAGCTGGTTGTGGAAGTGGGGATGAGGGGGAAGAGGGGTAACTCACAAAAGAGCATGAGGAAATTCTGGAGAGTAATGGAACTTTTCTGTATCTTTACTATGGTGGTAGTTACATGATTATTTGCATTTGTCAAAACTGATACAGCTGTACACTTGAAATGGTGAATTTTACTGTATGTAAATTATATCCAATAAACCAACCTTTACAAATAACATTAGGTACAATTAGACACAACAAAAGGTCAGTGAACCTGAAGACAGGTGAATAGAAATTGAACCTTATTTAAGAAGAAATGTTGACTAAAGAAAGAGAGAGGCTTACAGACCTGTGGGAGAGTATCAAGCAGTGAAACATACATGTAATTGGAGTTTCAGAAAGACAGGAGAGAGAATGGTGTAAAATATTATTTGAAAAAATATTGGCCAAAAATTATCCAAATTAGATCCAAAACAACCTCAGATCCAGGAGATTCAGTGAACCTTCAGCAGGATGAATAAATTATTAAAATTTACCACCACCACCACCCCCCTGCAGTAGTTTGGTAAAAACTACCAAACAAAATTTTAAAAAGCAGCCAGTGAGTGGGGAAAACAACAAAAACCCGTATTACATTTAGGAGGGCAGGGACAAGTAAGAATGACAGCCAGCCAAGTTTTCTTAAGAAAATGTGGTTACAATATGGTTATCTCTGTTAGTGCTGAAAGAAAAATAAAACACCCTAGAATTCTGTATGAAGGAGAATATATTAGTTAACATTTAAAGTCTTTTAAAAAATGTTTTTAACATCTTGCATTCCATTCCTTGTCTCTGTTCACACTGGAAATTACTACTTTGTACTACTTTTTCTGCTAAAGCAGATATCCATTAATTCTGAGGTTTCTCTAATTTTCCAGTGGTCAAATGTCGATTTCCAGTAGTCGAAAATGGAAAACAGATATCAGGATTTGGAAAAAAATTTTACTACAAAGCAACAGTTATGTTTGAATGCGATAAGGGTTTTTACCTCGATGGCAGCGACACAATTGTCTGTGACAGTAACAGTACTTGGGATCCCCCAGTTCCAAAGTGTCTTAAAGGTACAAAGGTTATCTTTTTTCTGTCTTGGTTTGTTATTGTTGTTGCTGTTCATTTTAGACTTTATTTCTTTGATATTAACTATCAGTCATACAAAATAACTGAAAAGAAACAATTTTAGTATTTAACTCTGTCTTGTATTCATTTCTATGCCAGATGAATGACACGAAATTCACATAAAATTCTGCTGTTGTGATTTTTTGTGCTTTTCCAGGGTTCTTAGCACGTTATGTACATTGCATGGGTATATGCTTTTAATATTTTTATGTATAAAAAGTGAATTACAACAACTTTTTGGAATTGAAACATGGGCATTTTTATCTAAGTAAGTCAACAATGGCATAATTCATATAAATGAAATGAGAGCAATAACTCCCAAGTGGTTGATCTTCTAACATTATTTTGTTTCCTAGTGCTGCCTCCATCTAGTACAAAACCTCCAGCTTTGAGTCATTCAGGTTTAGTAGCTTCTTCCTTATATGTCTTCTTCCTTATATGTTACAAGATATAAGGAATTCCTGGAGAAATTGCCAGCAATAACTCCCAAGTGTTTGGTCCAATCTACATTATTATTTTGTTTTCCAGTGTCGACTTCTTCCACTACAAAATCTCCAGCGTCCAGTGCCTCAGGTTTAGTAATTTCCTGCTTATAGTTTTTCAAAAATCCTTTAAATTCCTGGTGATTTTTTATAAAATCCTTCAAATTTCTGGTGATGTTCACTTATTTTTAGTAATGAAAGGAGGGAGGACATTTGTATAGCCATTTTAGTTGTTATACATAGTGATTCTAAAATTATTTGCCATAATCTGATATAAACAGGAATATGACCTTGGGAAAGTTGTATAAATTTTGAATGTGTTTATATATATATGTTTACATTATATATAGAGAAATTGATTTAGTACCTTCCTTATTGGGTATTAGTAAGGTATAAGTGGGATGCATTTAAAGCACTTAGCACAGTGCCTGGTGTAGAGAAAGCTCTTAGAGCTAGCCAATATGACTTATCCTACACTTAAATTAATGTTAGGGAAGGGGAAGGTTCATGTATGTTTGTTAGTATGTGTGTGTGTTAATATGTTAATATGTTTGTTTGTTAATATGTATGTTTTGTGTCATCAACTTTGCTATTTTATTCTTTTCAGAAGTGATCTGTTGACACCTTTACTGAGTTTGTTCCTATTGCAGGACTCTTTCATTTCCTGGAATGCAACTAGTTTGAGTCTTCTGATGTAAAACATTTAAACAGGGAAATTTCTGCTGTCCTCAGAACAAGATCTGTATTTCTGCCTCTTCCCTACCCACCCCTCTTCCACACCTCATAATGTTATTTATTTTTTTTCTCTTTAGTGGGCAGTTTTATCTGGCAATAGCAACTCAATTTTATAGCAACTGAAAGGCAGGAAAAGTCCTTATTTACTGAAATAAAATAGAAGACTTTTGCAGGGACTCCTGGTCAACCACTGTGCTTATGACTGGAGAGATTATTTTGATATGATGGAAGGAATTATCCTGATTTCAGCACTACCATCTCTGGTTTCACTTTGCTTCCAGCAGAAGCAAGAGACAATAGTAATTGTGGGTAGCACTTCAGTCTGGGCAGACTGTGCTTAGTTAACATCATTTCTGTGGTCTTCAGTTTCCCTTTAGTATAATGTGAGTGTTGAACTGAAATCTCAATCACTGGCTTCTAATTTGGTTATATATTTCCTATCTCCCTAATATTTTAAAGGATCGAAGAGAATTATGCATGTTAACATAGTAATTAAGATACCTTCTTATAGGCTGGGTGGGGTAGCTCACACCTGTAATACCAGAACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAGAAGTTCAAGACCAGCCTGGCTAAGTTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCGGGGTGCGGTGGCAGGCACTTGTAATCCCAGCTGCTCGGGAGGCCGAGGCAGGAGAATCGCTTGAACCCAGTGGGCAGAGGTTGCAGTGAGC
|
TTTACCCTATGAATGCAAGATTAGTTCAAATGCAAAAATTAATCAGTGTAATTTGCCACATCAGTAGACTATTAAGGAGAAAAAAAATCATGTGGTTATCTTATTAGATGCAAAAAACAAAGAAAATGTTTGACAGAATTCATCATCTTATTTTTTCATGATAAAACTTCTCAGCAAACTAGGAACAGAAGGGTACTATCTATCTTACCCTGATAACAGACATCTACAAAAATCTCACAGCTAACATTACACTTCATGGTTCAAAAAAATTATACTTAGTGGTAAAAAGTAACATTGTACTTAGTGGTTAAAAAAACCTTACTTACATTTCTGTCTAATTAATAAAGACCTAATTCTGGAAGGAAAACAGTGAGGATGTCCACTCTTACCACTCCATTCAGCATTATATTGGAGATCCCACCCAGTACAGTAAGGCAAGAGAAAGCTATTAGGCACACATGTTGGAAAAGAAGAAATAAAAACTGTCTCTACTCACAATGAGATGCCACTAAATACCTATTGGAAAGGCCGAAATGTAAACACACACACCCCAAACTGACAATACCAGGTATTGACAAGGATATGGAGCAGATGAAACTCTCATATACTGATGGTGAGAATCAAAGTGCAATGACCACTTTGGGACATTTTTGGCATTTCTTATAAAGTTAAACATACTCTTATCATACAACTCGGCAACCCAAATAAACTGAAAACATTTTCACACAGAAACTTATATGAGGATGTTCACAGCAGCCTTATTCATAATCACCCCAAACTGCAAATCGCCACATGTTCTTGAGTTGGTGAATGAATGAACCACCTGTGCTACCTCTAAAAGATGGACTCGTACTCAGCAATAAAAAGGAATGAACTGATTCATGCAGCAACACAAATGAATTTTGAAAGCATCATGCTTAGTGAAATAAGCCATACTAAGAAGACTGTAATTTCATTTATGTGACATTCTGAAAAAGTCCCACTATAGGGATAAAAGCAGATCAATGGTTAGCTGGTTGTGGAAGTGGGGATGAGGGGGAAGAGGGGTAACTCACAAAAGAGCATGAGGAAATTCTGGAGAGTAATGGAACTTTTCTGTATCTTTACTATGGTGGTAGTTACATGATTATTTGCATTTGTCAAAACTGATACAGCTGTACACTTGAAATGGTGAATTTTACTGTATGTAAATTATATCCAATAAACCAACCTTTACAAATAACATTAGGTACAATTAGACACAACAAAAGGTCAGTGAACCTGAAGACAGGTGAATAGAAATTGAACCTTATTTAAGAAGAAATGTTGACTAAAGAAAGAGAGAGGCTTACAGACCTGTGGGAGAGTATCAAGCAGTGAAACATACATGTAATTGGAGTTTCAGAAAGACAGGAGAGAGAATGGTGTAAAATATTATTTGAAAAAATATTGGCCAAAAATTATCCAAATTAGATCCAAAACAACCTCAGATCCAGGAGATTCAGTGAACCTTCAGCAGGATGAATAAATTATTAAAATTTACCACCACCACCACCCCCCTGCAGTAGTTTGGTAAAAACTACCAAACAAAATTTTAAAAAGCAGCCAGTGAGTGGGGAAAACAACAAAAACCCGTATTACATTTAGGAGGGCAGGGACAAGTAAGAATGACAGCCAGCCAAGTTTTCTTAAGAAAATGTGGTTACAATATGGTTATCTCTGTTAGTGCTGAAAGAAAAATAAAACACCCTAGAATTCTGTATGAAGGAGAATATATTAGTTAACATTTAAAGTCTTTTAAAAAATGTTTTTAACATCTTGCATTCCATTCCTTGTCTCTGTTCACACTGGAAATTACTACTTTGTACTACTTTTTCTGCTAAAGCAGATATCCATTAATTCTGAGGTTTCTCTAATTTTCCAGTGGTCAAATGTCGATTTCCAGTAGTCGAAAATGGAAAACAGATATCAGGATTTGGAAAAAAATTTTACTACAAAGCAACAGTTATGTTTGAATGCGATAAGGGTTTTTACCTCGATGGCAGCGACACAATTGTCTGTGACAGTAACTACTTGGGATCCCCCAGTTCCAAAGTGTCTTAAAGGTACAAAGGTTATCTTTTTTCTGTCTTGGTTTGTTATTGTTGTTGCTGTTCATTTTAGACTTTATTTCTTTGATATTAACTATCAGTCATACAAAATAACTGAAAAGAAACAATTTTAGTATTTAACTCTGTCTTGTATTCATTTCTATGCCAGATGAATGACACGAAATTCACATAAAATTCTGCTGTTGTGATTTTTTGTGCTTTTCCAGGGTTCTTAGCACGTTATGTACATTGCATGGGTATATGCTTTTAATATTTTTATGTATAAAAAGTGAATTACAACAACTTTTTGGAATTGAAACATGGGCATTTTTATCTAAGTAAGTCAACAATGGCATAATTCATATAAATGAAATGAGAGCAATAACTCCCAAGTGGTTGATCTTCTAACATTATTTTGTTTCCTAGTGCTGCCTCCATCTAGTACAAAACCTCCAGCTTTGAGTCATTCAGGTTTAGTAGCTTCTTCCTTATATGTCTTCTTCCTTATATGTTACAAGATATAAGGAATTCCTGGAGAAATTGCCAGCAATAACTCCCAAGTGTTTGGTCCAATCTACATTATTATTTTGTTTTCCAGTGTCGACTTCTTCCACTACAAAATCTCCAGCGTCCAGTGCCTCAGGTTTAGTAATTTCCTGCTTATAGTTTTTCAAAAATCCTTTAAATTCCTGGTGATTTTTTATAAAATCCTTCAAATTTCTGGTGATGTTCACTTATTTTTAGTAATGAAAGGAGGGAGGACATTTGTATAGCCATTTTAGTTGTTATACATAGTGATTCTAAAATTATTTGCCATAATCTGATATAAACAGGAATATGACCTTGGGAAAGTTGTATAAATTTTGAATGTGTTTATATATATATGTTTACATTATATATAGAGAAATTGATTTAGTACCTTCCTTATTGGGTATTAGTAAGGTATAAGTGGGATGCATTTAAAGCACTTAGCACAGTGCCTGGTGTAGAGAAAGCTCTTAGAGCTAGCCAATATGACTTATCCTACACTTAAATTAATGTTAGGGAAGGGGAAGGTTCATGTATGTTTGTTAGTATGTGTGTGTGTTAATATGTTAATATGTTTGTTTGTTAATATGTATGTTTTGTGTCATCAACTTTGCTATTTTATTCTTTTCAGAAGTGATCTGTTGACACCTTTACTGAGTTTGTTCCTATTGCAGGACTCTTTCATTTCCTGGAATGCAACTAGTTTGAGTCTTCTGATGTAAAACATTTAAACAGGGAAATTTCTGCTGTCCTCAGAACAAGATCTGTATTTCTGCCTCTTCCCTACCCACCCCTCTTCCACACCTCATAATGTTATTTATTTTTTTTCTCTTTAGTGGGCAGTTTTATCTGGCAATAGCAACTCAATTTTATAGCAACTGAAAGGCAGGAAAAGTCCTTATTTACTGAAATAAAATAGAAGACTTTTGCAGGGACTCCTGGTCAACCACTGTGCTTATGACTGGAGAGATTATTTTGATATGATGGAAGGAATTATCCTGATTTCAGCACTACCATCTCTGGTTTCACTTTGCTTCCAGCAGAAGCAAGAGACAATAGTAATTGTGGGTAGCACTTCAGTCTGGGCAGACTGTGCTTAGTTAACATCATTTCTGTGGTCTTCAGTTTCCCTTTAGTATAATGTGAGTGTTGAACTGAAATCTCAATCACTGGCTTCTAATTTGGTTATATATTTCCTATCTCCCTAATATTTTAAAGGATCGAAGAGAATTATGCATGTTAACATAGTAATTAAGATACCTTCTTATAGGCTGGGTGGGGTAGCTCACACCTGTAATACCAGAACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAGAAGTTCAAGACCAGCCTGGCTAAGTTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCGGGGTGCGGTGGCAGGCACTTGTAATCCCAGCTGCTCGGGAGGCCGAGGCAGGAGAATCGCTTGAACCCAGTGGGCAGAGGTTGCAGTGAGCNN
|
pathogenic
| 21,124
|
The mutation in gene CD46 (CD46 molecule) at chromosome 1, position 207767209—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
TTTGCCACATCAGTAGACTATTAAGGAGAAAAAAAATCATGTGGTTATCTTATTAGATGCAAAAAACAAAGAAAATGTTTGACAGAATTCATCATCTTATTTTTTCATGATAAAACTTCTCAGCAAACTAGGAACAGAAGGGTACTATCTATCTTACCCTGATAACAGACATCTACAAAAATCTCACAGCTAACATTACACTTCATGGTTCAAAAAAATTATACTTAGTGGTAAAAAGTAACATTGTACTTAGTGGTTAAAAAAACCTTACTTACATTTCTGTCTAATTAATAAAGACCTAATTCTGGAAGGAAAACAGTGAGGATGTCCACTCTTACCACTCCATTCAGCATTATATTGGAGATCCCACCCAGTACAGTAAGGCAAGAGAAAGCTATTAGGCACACATGTTGGAAAAGAAGAAATAAAAACTGTCTCTACTCACAATGAGATGCCACTAAATACCTATTGGAAAGGCCGAAATGTAAACACACACACCCCAAACTGACAATACCAGGTATTGACAAGGATATGGAGCAGATGAAACTCTCATATACTGATGGTGAGAATCAAAGTGCAATGACCACTTTGGGACATTTTTGGCATTTCTTATAAAGTTAAACATACTCTTATCATACAACTCGGCAACCCAAATAAACTGAAAACATTTTCACACAGAAACTTATATGAGGATGTTCACAGCAGCCTTATTCATAATCACCCCAAACTGCAAATCGCCACATGTTCTTGAGTTGGTGAATGAATGAACCACCTGTGCTACCTCTAAAAGATGGACTCGTACTCAGCAATAAAAAGGAATGAACTGATTCATGCAGCAACACAAATGAATTTTGAAAGCATCATGCTTAGTGAAATAAGCCATACTAAGAAGACTGTAATTTCATTTATGTGACATTCTGAAAAAGTCCCACTATAGGGATAAAAGCAGATCAATGGTTAGCTGGTTGTGGAAGTGGGGATGAGGGGGAAGAGGGGTAACTCACAAAAGAGCATGAGGAAATTCTGGAGAGTAATGGAACTTTTCTGTATCTTTACTATGGTGGTAGTTACATGATTATTTGCATTTGTCAAAACTGATACAGCTGTACACTTGAAATGGTGAATTTTACTGTATGTAAATTATATCCAATAAACCAACCTTTACAAATAACATTAGGTACAATTAGACACAACAAAAGGTCAGTGAACCTGAAGACAGGTGAATAGAAATTGAACCTTATTTAAGAAGAAATGTTGACTAAAGAAAGAGAGAGGCTTACAGACCTGTGGGAGAGTATCAAGCAGTGAAACATACATGTAATTGGAGTTTCAGAAAGACAGGAGAGAGAATGGTGTAAAATATTATTTGAAAAAATATTGGCCAAAAATTATCCAAATTAGATCCAAAACAACCTCAGATCCAGGAGATTCAGTGAACCTTCAGCAGGATGAATAAATTATTAAAATTTACCACCACCACCACCCCCCTGCAGTAGTTTGGTAAAAACTACCAAACAAAATTTTAAAAAGCAGCCAGTGAGTGGGGAAAACAACAAAAACCCGTATTACATTTAGGAGGGCAGGGACAAGTAAGAATGACAGCCAGCCAAGTTTTCTTAAGAAAATGTGGTTACAATATGGTTATCTCTGTTAGTGCTGAAAGAAAAATAAAACACCCTAGAATTCTGTATGAAGGAGAATATATTAGTTAACATTTAAAGTCTTTTAAAAAATGTTTTTAACATCTTGCATTCCATTCCTTGTCTCTGTTCACACTGGAAATTACTACTTTGTACTACTTTTTCTGCTAAAGCAGATATCCATTAATTCTGAGGTTTCTCTAATTTTCCAGTGGTCAAATGTCGATTTCCAGTAGTCGAAAATGGAAAACAGATATCAGGATTTGGAAAAAAATTTTACTACAAAGCAACAGTTATGTTTGAATGCGATAAGGGTTTTTACCTCGATGGCAGCGACACAATTGTCTGTGACAGTAACAGTACTTGGGATCCCCCAGTTCCAAAGTGTCTTAAAGGTACAAAGGTTATCTTTTTTCTGTCTTGGTTTGTTATTGTTGTTGCTGTTCATTTTAGACTTTATTTCTTTGATATTAACTATCAGTCATACAAAATAACTGAAAAGAAACAATTTTAGTATTTAACTCTGTCTTGTATTCATTTCTATGCCAGATGAATGACACGAAATTCACATAAAATTCTGCTGTTGTGATTTTTTGTGCTTTTCCAGGGTTCTTAGCACGTTATGTACATTGCATGGGTATATGCTTTTAATATTTTTATGTATAAAAAGTGAATTACAACAACTTTTTGGAATTGAAACATGGGCATTTTTATCTAAGTAAGTCAACAATGGCATAATTCATATAAATGAAATGAGAGCAATAACTCCCAAGTGGTTGATCTTCTAACATTATTTTGTTTCCTAGTGCTGCCTCCATCTAGTACAAAACCTCCAGCTTTGAGTCATTCAGGTTTAGTAGCTTCTTCCTTATATGTCTTCTTCCTTATATGTTACAAGATATAAGGAATTCCTGGAGAAATTGCCAGCAATAACTCCCAAGTGTTTGGTCCAATCTACATTATTATTTTGTTTTCCAGTGTCGACTTCTTCCACTACAAAATCTCCAGCGTCCAGTGCCTCAGGTTTAGTAATTTCCTGCTTATAGTTTTTCAAAAATCCTTTAAATTCCTGGTGATTTTTTATAAAATCCTTCAAATTTCTGGTGATGTTCACTTATTTTTAGTAATGAAAGGAGGGAGGACATTTGTATAGCCATTTTAGTTGTTATACATAGTGATTCTAAAATTATTTGCCATAATCTGATATAAACAGGAATATGACCTTGGGAAAGTTGTATAAATTTTGAATGTGTTTATATATATATGTTTACATTATATATAGAGAAATTGATTTAGTACCTTCCTTATTGGGTATTAGTAAGGTATAAGTGGGATGCATTTAAAGCACTTAGCACAGTGCCTGGTGTAGAGAAAGCTCTTAGAGCTAGCCAATATGACTTATCCTACACTTAAATTAATGTTAGGGAAGGGGAAGGTTCATGTATGTTTGTTAGTATGTGTGTGTGTTAATATGTTAATATGTTTGTTTGTTAATATGTATGTTTTGTGTCATCAACTTTGCTATTTTATTCTTTTCAGAAGTGATCTGTTGACACCTTTACTGAGTTTGTTCCTATTGCAGGACTCTTTCATTTCCTGGAATGCAACTAGTTTGAGTCTTCTGATGTAAAACATTTAAACAGGGAAATTTCTGCTGTCCTCAGAACAAGATCTGTATTTCTGCCTCTTCCCTACCCACCCCTCTTCCACACCTCATAATGTTATTTATTTTTTTTCTCTTTAGTGGGCAGTTTTATCTGGCAATAGCAACTCAATTTTATAGCAACTGAAAGGCAGGAAAAGTCCTTATTTACTGAAATAAAATAGAAGACTTTTGCAGGGACTCCTGGTCAACCACTGTGCTTATGACTGGAGAGATTATTTTGATATGATGGAAGGAATTATCCTGATTTCAGCACTACCATCTCTGGTTTCACTTTGCTTCCAGCAGAAGCAAGAGACAATAGTAATTGTGGGTAGCACTTCAGTCTGGGCAGACTGTGCTTAGTTAACATCATTTCTGTGGTCTTCAGTTTCCCTTTAGTATAATGTGAGTGTTGAACTGAAATCTCAATCACTGGCTTCTAATTTGGTTATATATTTCCTATCTCCCTAATATTTTAAAGGATCGAAGAGAATTATGCATGTTAACATAGTAATTAAGATACCTTCTTATAGGCTGGGTGGGGTAGCTCACACCTGTAATACCAGAACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAGAAGTTCAAGACCAGCCTGGCTAAGTTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCGGGGTGCGGTGGCAGGCACTTGTAATCCCAGCTGCTCGGGAGGCCGAGGCAGGAGAATCGCTTGAACCCAGTGGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCT
|
TTTGCCACATCAGTAGACTATTAAGGAGAAAAAAAATCATGTGGTTATCTTATTAGATGCAAAAAACAAAGAAAATGTTTGACAGAATTCATCATCTTATTTTTTCATGATAAAACTTCTCAGCAAACTAGGAACAGAAGGGTACTATCTATCTTACCCTGATAACAGACATCTACAAAAATCTCACAGCTAACATTACACTTCATGGTTCAAAAAAATTATACTTAGTGGTAAAAAGTAACATTGTACTTAGTGGTTAAAAAAACCTTACTTACATTTCTGTCTAATTAATAAAGACCTAATTCTGGAAGGAAAACAGTGAGGATGTCCACTCTTACCACTCCATTCAGCATTATATTGGAGATCCCACCCAGTACAGTAAGGCAAGAGAAAGCTATTAGGCACACATGTTGGAAAAGAAGAAATAAAAACTGTCTCTACTCACAATGAGATGCCACTAAATACCTATTGGAAAGGCCGAAATGTAAACACACACACCCCAAACTGACAATACCAGGTATTGACAAGGATATGGAGCAGATGAAACTCTCATATACTGATGGTGAGAATCAAAGTGCAATGACCACTTTGGGACATTTTTGGCATTTCTTATAAAGTTAAACATACTCTTATCATACAACTCGGCAACCCAAATAAACTGAAAACATTTTCACACAGAAACTTATATGAGGATGTTCACAGCAGCCTTATTCATAATCACCCCAAACTGCAAATCGCCACATGTTCTTGAGTTGGTGAATGAATGAACCACCTGTGCTACCTCTAAAAGATGGACTCGTACTCAGCAATAAAAAGGAATGAACTGATTCATGCAGCAACACAAATGAATTTTGAAAGCATCATGCTTAGTGAAATAAGCCATACTAAGAAGACTGTAATTTCATTTATGTGACATTCTGAAAAAGTCCCACTATAGGGATAAAAGCAGATCAATGGTTAGCTGGTTGTGGAAGTGGGGATGAGGGGGAAGAGGGGTAACTCACAAAAGAGCATGAGGAAATTCTGGAGAGTAATGGAACTTTTCTGTATCTTTACTATGGTGGTAGTTACATGATTATTTGCATTTGTCAAAACTGATACAGCTGTACACTTGAAATGGTGAATTTTACTGTATGTAAATTATATCCAATAAACCAACCTTTACAAATAACATTAGGTACAATTAGACACAACAAAAGGTCAGTGAACCTGAAGACAGGTGAATAGAAATTGAACCTTATTTAAGAAGAAATGTTGACTAAAGAAAGAGAGAGGCTTACAGACCTGTGGGAGAGTATCAAGCAGTGAAACATACATGTAATTGGAGTTTCAGAAAGACAGGAGAGAGAATGGTGTAAAATATTATTTGAAAAAATATTGGCCAAAAATTATCCAAATTAGATCCAAAACAACCTCAGATCCAGGAGATTCAGTGAACCTTCAGCAGGATGAATAAATTATTAAAATTTACCACCACCACCACCCCCCTGCAGTAGTTTGGTAAAAACTACCAAACAAAATTTTAAAAAGCAGCCAGTGAGTGGGGAAAACAACAAAAACCCGTATTACATTTAGGAGGGCAGGGACAAGTAAGAATGACAGCCAGCCAAGTTTTCTTAAGAAAATGTGGTTACAATATGGTTATCTCTGTTAGTGCTGAAAGAAAAATAAAACACCCTAGAATTCTGTATGAAGGAGAATATATTAGTTAACATTTAAAGTCTTTTAAAAAATGTTTTTAACATCTTGCATTCCATTCCTTGTCTCTGTTCACACTGGAAATTACTACTTTGTACTACTTTTTCTGCTAAAGCAGATATCCATTAATTCTGAGGTTTCTCTAATTTTCCAGTGGTCAAATGTCGATTTCCAGTAGTCGAAAATGGAAAACAGATATCAGGATTTGGAAAAAAATTTTACTACAAAGCAACAGTTATGTTTGAATGCGATAAGGGTTTTTACCTCGATGGCAGCGACACAATTGTCTGTGACAGTAACAGTACTTGGGATCCCCCAGTTCCAAAGTGTCTTAAAGGTACAAAGGTTATCTTTTTTTCTGTCTTGGTTTGTTATTGTTGTTGCTGTTCATTTTAGACTTTATTTCTTTGATATTAACTATCAGTCATACAAAATAACTGAAAAGAAACAATTTTAGTATTTAACTCTGTCTTGTATTCATTTCTATGCCAGATGAATGACACGAAATTCACATAAAATTCTGCTGTTGTGATTTTTTGTGCTTTTCCAGGGTTCTTAGCACGTTATGTACATTGCATGGGTATATGCTTTTAATATTTTTATGTATAAAAAGTGAATTACAACAACTTTTTGGAATTGAAACATGGGCATTTTTATCTAAGTAAGTCAACAATGGCATAATTCATATAAATGAAATGAGAGCAATAACTCCCAAGTGGTTGATCTTCTAACATTATTTTGTTTCCTAGTGCTGCCTCCATCTAGTACAAAACCTCCAGCTTTGAGTCATTCAGGTTTAGTAGCTTCTTCCTTATATGTCTTCTTCCTTATATGTTACAAGATATAAGGAATTCCTGGAGAAATTGCCAGCAATAACTCCCAAGTGTTTGGTCCAATCTACATTATTATTTTGTTTTCCAGTGTCGACTTCTTCCACTACAAAATCTCCAGCGTCCAGTGCCTCAGGTTTAGTAATTTCCTGCTTATAGTTTTTCAAAAATCCTTTAAATTCCTGGTGATTTTTTATAAAATCCTTCAAATTTCTGGTGATGTTCACTTATTTTTAGTAATGAAAGGAGGGAGGACATTTGTATAGCCATTTTAGTTGTTATACATAGTGATTCTAAAATTATTTGCCATAATCTGATATAAACAGGAATATGACCTTGGGAAAGTTGTATAAATTTTGAATGTGTTTATATATATATGTTTACATTATATATAGAGAAATTGATTTAGTACCTTCCTTATTGGGTATTAGTAAGGTATAAGTGGGATGCATTTAAAGCACTTAGCACAGTGCCTGGTGTAGAGAAAGCTCTTAGAGCTAGCCAATATGACTTATCCTACACTTAAATTAATGTTAGGGAAGGGGAAGGTTCATGTATGTTTGTTAGTATGTGTGTGTGTTAATATGTTAATATGTTTGTTTGTTAATATGTATGTTTTGTGTCATCAACTTTGCTATTTTATTCTTTTCAGAAGTGATCTGTTGACACCTTTACTGAGTTTGTTCCTATTGCAGGACTCTTTCATTTCCTGGAATGCAACTAGTTTGAGTCTTCTGATGTAAAACATTTAAACAGGGAAATTTCTGCTGTCCTCAGAACAAGATCTGTATTTCTGCCTCTTCCCTACCCACCCCTCTTCCACACCTCATAATGTTATTTATTTTTTTTCTCTTTAGTGGGCAGTTTTATCTGGCAATAGCAACTCAATTTTATAGCAACTGAAAGGCAGGAAAAGTCCTTATTTACTGAAATAAAATAGAAGACTTTTGCAGGGACTCCTGGTCAACCACTGTGCTTATGACTGGAGAGATTATTTTGATATGATGGAAGGAATTATCCTGATTTCAGCACTACCATCTCTGGTTTCACTTTGCTTCCAGCAGAAGCAAGAGACAATAGTAATTGTGGGTAGCACTTCAGTCTGGGCAGACTGTGCTTAGTTAACATCATTTCTGTGGTCTTCAGTTTCCCTTTAGTATAATGTGAGTGTTGAACTGAAATCTCAATCACTGGCTTCTAATTTGGTTATATATTTCCTATCTCCCTAATATTTTAAAGGATCGAAGAGAATTATGCATGTTAACATAGTAATTAAGATACCTTCTTATAGGCTGGGTGGGGTAGCTCACACCTGTAATACCAGAACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAGAAGTTCAAGACCAGCCTGGCTAAGTTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCGGGGTGCGGTGGCAGGCACTTGTAATCCCAGCTGCTCGGGAGGCCGAGGCAGGAGAATCGCTTGAACCCAGTGGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTC
|
benign
| 21,125
|
Is the variant located on chromosome 1 at position 209617447, gene LAMB3 (laminin subunit beta 3), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz']
|
ACTCCATGTCTGAGGCAAATGGAACAGCAGCAGGAGGAGGAGTTGATGGTGAGACTCCCCAAGACTCCCAACCCTTCCTTCCCCTCCTGCTAACTGGAGGTAGCATGTGTAGAGGAATCCCCTCCAGAAAAATCTGGCCTCTAAAGCAGTGGTGCCCCTCCAGCTTCATGCCTCTCCAGCCCCATCCCATGCTTAGTAACCTGGCAGGGGCCAAACCCAGCAGGCTCCCACTCCTAATTATCCCTGGGCCCCTGACCCTCTGGGCTCTCACAGTTGTCCAAGGCTAATGAAGGAGGTCACAAACACCCATCATCATATCTTAGCGATGACTCTAGTTCCCAGGAGCCCCTGTTCTCCTTTCTAAGGAATTTTTGGAACCCTTTTGAAAGCTACTTTCATTATGTTTCTGTCATATTCAAAGCCCTTGGATGTGCCCTACCGCCTCCTGAGCTATCTACCCTCCTCATCCTCACACTAGAAGCCAGGCACAGGGACAAGTCATGTTGACCTCATGCCACTTCTTTCCTACCAGCTCCTCAGCAACCCTCTTCTCCTGTCCCTATGTCAGAACATATCTTGTTGGGGCTTCCCAACACCCTTATCCTAATGTCCCTCCTCTTCCTCACAGCTTCTCCCAGGCCTACACATCCTTCCAGGCCCATCTCAAATCTTCTTTTCTTACCTTCACTGAACATGTCTCTCTCAAATTATTTATTCCCTGAACCCCAGAACTCTTATTATTCAACCCCTATCAGAGACCACCTCATCCTGTTAAATATAATTCTATGCATCTTAAGCATAAAGCAATAGGAATAAAAAATATGACCCCACTGTTTGCAAAAACAGAGAAAATGGTCCCATTAATTGCAAGCTTTTTGAGGCCAGGACAAGTCATGGGACCATCTCTGCATTCCCCAGCCTCATACATGCTAGATGCCCAGAAAAAATCTCATTTGATCTCACTCCCATAGCACGGCTAGCTCCAATAAGAACGGGCTTCAGAAGCCTTGGGTTGGGTGGGACCAGCCTTCATGAATGCCCAATAGTCCATGCCCCTAAACCATTCCCTCACCTTTCATCCTGTCCATCATCTCCATGGTCTCCCCAAACAGCTCCTCTGCCTCTGTCTTCACACTCTGGATCCGGGCACCCTGCTCACCCAGCATGGAACTCTGACCCAACCGGTCCTTCAACTCAGCATACTTTTGTTTTATTCTCTCAAATCCCTGAAAAAGGTAGAATAGTCTCAGTGTCATTGTCATCATGCAAGGTCCTAAAGACCTGTGGCCAAAGCACTTGATATCACCCAAATCAATACACAGTGGGAAGGTGCCTCCTATTAGCCCCCAATAGCATTGGTTTTGCCTATTGAAACCCCTGAGCCACAGACTATGACTTAAACTTCTGTGTTTCCCTCTTCCCATCTCCAGCTCTTGACATGACCCACCTCACTCCCAGGACAATGTCAGTCACATCATAGGATATTAATAGTAGGCTGTCACTTAATAGCATACTTAGCAACTTGGTCACTGTGCCAGGATTGAAAGTGCCAATGTTCCTGGCCATAGCGGGAGCAGGTAGTGTGCTTGAGACACTGAGAATGGGCTCTTTGATCTTCTCTCTCATCTAATTCTGACAATCATGGAGCCCAGGTTAGGTTAAGCAAAGAGCATCTGTCCAGGCTGGGAATCCAAGAGACAAGCTCTGGATCCAGTGTCAGGGGACCTGCTTTGTAGATGATTCTTAGGCCTGTGAACGAGTCACCACCTCATCTGTAAAAGGAAAGGGACTGGACTAGGTCATCTCCAGTGTCCCTGAGCCAGCTATACCAAAAGCAGTGGAGGGAGAAATCAGATGCCTGGCCAGGTTTGGGTTGACTCTCAAGCCTCTTCTGGTTCTGTTATTCTAAGCACTTTTGAGTTTGTGGTCTTATAAAGTGTGCAAAGTCCTCCTCTGCTCAGGACCCCCTCACTGGCCGTACATCATTGAGCTAACTCCGCCTTCTCTGTACCTCTTGGGCACTCAATGCCTGCTCGCTGGCACCTTCCGCAAGCTGCTGGGCCTGGACTGCCTCTGCCCCCTGCTGCCGGGCTTGGTGGCGGAGCTCCTCCATCCGTGTCCAGAAGTCACCCAGCTGCTTGGTCATGCTTGTCACCAGCTTTTCTGCTGGCCGCAGTACCTGCTGAACCTTTGTGGAAAGAGGGAGATCTGGCCTTTGTGGTGGGTCTCATAGGTCGGGGGGTTCATCCCCATTTTTTCTCCAACTCATCAGGCAGCAAAAACCCTCTCCAACCAGAACAAACACAATTGCCCACCTCTCACCCCTCCTTCTGCATCCCAGCCACAAGACCAGAAAATCCAAGGCCCATAGCCTGCCCAAAGCTTGTCACTCTCCTCTAGAACTCCACCTCAGGTTTTATCTAGTCACTTTCTGGCATTTTCTATGCCTGGTGCCCAAATTTTCCTGTTTATGCCCAAATATGGGCGGAGGAAGCCATAATGCCTCACCTCAGCAACCCTGTCCTGGATAAGCCGAAGGGAGCGGCTGGTGCCTTGCATGGTGTCCTGAGCTTCCTGCAGTGCCACTGTCCCCTGCCGCAGGTTCCCAACCACATCTTCCACCTGGCCCTCCACTGCATGGGCTCGGCTCCTGGGTGAGAGAAGCAGCAGGGAGAGGAGAGAGAGAATGAGTGAACAGTGAATCAATGTGTGGTTCGACTCACACACCAGTCCAAAAGAACACCCTTCCCAGCCAAGGCAAAGAGCAAGGAAAGTATTAACTCAGTAGCTTTGATGTCCCAGGACCCCACCAAGCAGACGTGATGAATGTTCCCATTATGCCCAAGACACCTTCTGGGCGGTTTCCAATACGGAAGACACAGTCATGCAAATTAAGTTTAACCTGCACTCTGGACTCTGTGTACCACTCTCCACCATGGTAAGCACCCCCTCCTGTCTCCCAGCCCTCTGTACCCCTCTCCCAGCAACGGGGTTGAGGAGCAAAACGCCAGCTTAATCCTGGGCAGAGAGAAGTTCAGGGCCCAAGGCCATACCTGGCTTCCTCAGCCTCAGCCTGCAACCGGCGGGCACGCGCAATGTCCTGCTTGGTCTGGGACAGCACCAAGTCCACGTTGGGGAGCCTGGCTGCAATGGCCTGGATCTCATTCATCTTCTGCAGAACAGTAGCTGAGTCTGTGGGCAGCCACAGGGCCAGCACGGCCTCGCTGACCTCCTGGATAGTGGCTGCATCAGTGTCGGGGTCTGGAAGACAACACGCATTTGACTGTAGGAGCCCACTAACCTCCCCAGAGATACGAGGCCTCTCCTAGCTGAGCAGCACTTGTGGAAGGCACCCACAGTGGCCCCTCTACCGTGGTGTCCCAAGGAGCTGCTGCCCCCTTTCAACCAGACTCAGGCGCCTGTTCTCCAGGGATTTCTGGGAATGCTGTAGGAGGATGACTATCCTGTGCTCCATGCTGCAGCAGGGAGGAGGAGGGGTGTCGTCACAGCTGTGCCAACTAAGTGTCTGGTGCCACAGGAAGCTGCGGGCTGGGGAGAAGGAGGTGGTGCCAGACAGCTGGTACTGAACAATGCCTGCAGCACATGCACAATCAGCCCTAAATTGGGAAGAGTGGCCAGAAACTGGAGCTGCTTCCTTGGCAAAAAGACCCCTTCCCTGCATTCCCCCTCAGGCAAGATTGCTCATTTGTGCAAAGGCAAATAAGAATGATCAAGTCTCTGCTGGAATATCACCTTCTCAGGGAGGCCAACCCCAGCCATCCAATCTAGAATTGCAACCTCCACCCTGGACTGTAGCACACCTTATCGTCCCTCCCTGCCTTATCTTTCTGTCTAGCACTTGCACCACCCATGTGCCAAACACTGTACTCATTTAACTGGTTTGTTTGGTCTCTTTTCCTCTAGAATGTAAGCTCTACAAGGGCAGGGCCTGGGTTTTGTCCACAGCTATATCCCCAGACCCCAGCACAGTGCCTGGCACTTGGAGGTCCTCATGTGCGTAGAGTGAATGAATGATTGACAGGGCTTCAGGTTCAGATCTCTGCTTTACTATTCAAGCCACCTGGGCAAGTCAAGT
|
ACTCCATGTCTGAGGCAAATGGAACAGCAGCAGGAGGAGGAGTTGATGGTGAGACTCCCCAAGACTCCCAACCCTTCCTTCCCCTCCTGCTAACTGGAGGTAGCATGTGTAGAGGAATCCCCTCCAGAAAAATCTGGCCTCTAAAGCAGTGGTGCCCCTCCAGCTTCATGCCTCTCCAGCCCCATCCCATGCTTAGTAACCTGGCAGGGGCCAAACCCAGCAGGCTCCCACTCCTAATTATCCCTGGGCCCCTGACCCTCTGGGCTCTCACAGTTGTCCAAGGCTAATGAAGGAGGTCACAAACACCCATCATCATATCTTAGCGATGACTCTAGTTCCCAGGAGCCCCTGTTCTCCTTTCTAAGGAATTTTTGGAACCCTTTTGAAAGCTACTTTCATTATGTTTCTGTCATATTCAAAGCCCTTGGATGTGCCCTACCGCCTCCTGAGCTATCTACCCTCCTCATCCTCACACTAGAAGCCAGGCACAGGGACAAGTCATGTTGACCTCATGCCACTTCTTTCCTACCAGCTCCTCAGCAACCCTCTTCTCCTGTCCCTATGTCAGAACATATCTTGTTGGGGCTTCCCAACACCCTTATCCTAATGTCCCTCCTCTTCCTCACAGCTTCTCCCAGGCCTACACATCCTTCCAGGCCCATCTCAAATCTTCTTTTCTTACCTTCACTGAACATGTCTCTCTCAAATTATTTATTCCCTGAACCCCAGAACTCTTATTATTCAACCCCTATCAGAGACCACCTCATCCTGTTAAATATAATTCTATGCATCTTAAGCATAAAGCAATAGGAATAAAAAATATGACCCCACTGTTTGCAAAAACAGAGAAAATGGTCCCATTAATTGCAAGCTTTTTGAGGCCAGGACAAGTCATGGGACCATCTCTGCATTCCCCAGCCTCATACATGCTAGATGCCCAGAAAAAATCTCATTTGATCTCACTCCCATAGCACGGCTAGCTCCAATAAGAACGGGCTTCAGAAGCCTTGGGTTGGGTGGGACCAGCCTTCATGAATGCCCAATAGTCCATGCCCCTAAACCATTCCCTCACCTTTCATCCTGTCCATCATCTCCATGGTCTCCCCAAACAGCTCCTCTGCCTCTGTCTTCACACTCTGGATCCGGGCACCCTGCTCACCCAGCATGGAACTCTGACCCAACCGGTCCTTCAACTCAGCATACTTTTGTTTTATTCTCTCAAATCCCTGAAAAAGGTAGAATAGTCTCAGTGTCATTGTCATCATGCAAGGTCCTAAAGACCTGTGGCCAAAGCACTTGATATCACCCAAATCAATACACAGTGGGAAGGTGCCTCCTATTAGCCCCCAATAGCATTGGTTTTGCCTATTGAAACCCCTGAGCCACAGACTATGACTTAAACTTCTGTGTTTCCCTCTTCCCATCTCCAGCTCTTGACATGACCCACCTCACTCCCAGGACAATGTCAGTCACATCATAGGATATTAATAGTAGGCTGTCACTTAATAGCATACTTAGCAACTTGGTCACTGTGCCAGGATTGAAAGTGCCAATGTTCCTGGCCATAGCGGGAGCAGGTAGTGTGCTTGAGACACTGAGAATGGGCTCTTTGATCTTCTCTCTCATCTAATTCTGACAATCATGGAGCCCAGGTTAGGTTAAGCAAAGAGCATCTGTCCAGGCTGGGAATCCAAGAGACAAGCTCTGGATCCAGTGTCAGGGGACCTGCTTTGTAGATGATTCTTAGGCCTGTGAACGAGTCACCACCTCATCTGTAAAAGGAAAGGGACTGGACTAGGTCATCTCCAGTGTCCCTGAGCCAGCTATACCAAAAGCAGTGGAGGGAGAAATCAGATGCCTGGCCAGGTTTGGGTTGACTCTCAAGCCTCTTCTGGTTCTGTTATTCTAAGCACTTTTGAGTTTGTGGTCTTATAAAGTGTGCAAAGTCCTCCTCTGCTCAGGACCCCCTCACTGGCCGTACATCATTGAGCTAACTCCGCCTTCTCTGTACCTCTTGGGCACTCAATGCCTGCTCGCTGGCACCTTCCTAAAGCTGCTGGGCCTGGACTGCCTCTGCCCCCTGCTGCCGGGCTTGGTGGCGGAGCTCCTCCATCCGTGTCCAGAAGTCACCCAGCTGCTTGGTCATGCTTGTCACCAGCTTTTCTGCTGGCCGCAGTACCTGCTGAACCTTTGTGGAAAGAGGGAGATCTGGCCTTTGTGGTGGGTCTCATAGGTCGGGGGGTTCATCCCCATTTTTTCTCCAACTCATCAGGCAGCAAAAACCCTCTCCAACCAGAACAAACACAATTGCCCACCTCTCACCCCTCCTTCTGCATCCCAGCCACAAGACCAGAAAATCCAAGGCCCATAGCCTGCCCAAAGCTTGTCACTCTCCTCTAGAACTCCACCTCAGGTTTTATCTAGTCACTTTCTGGCATTTTCTATGCCTGGTGCCCAAATTTTCCTGTTTATGCCCAAATATGGGCGGAGGAAGCCATAATGCCTCACCTCAGCAACCCTGTCCTGGATAAGCCGAAGGGAGCGGCTGGTGCCTTGCATGGTGTCCTGAGCTTCCTGCAGTGCCACTGTCCCCTGCCGCAGGTTCCCAACCACATCTTCCACCTGGCCCTCCACTGCATGGGCTCGGCTCCTGGGTGAGAGAAGCAGCAGGGAGAGGAGAGAGAGAATGAGTGAACAGTGAATCAATGTGTGGTTCGACTCACACACCAGTCCAAAAGAACACCCTTCCCAGCCAAGGCAAAGAGCAAGGAAAGTATTAACTCAGTAGCTTTGATGTCCCAGGACCCCACCAAGCAGACGTGATGAATGTTCCCATTATGCCCAAGACACCTTCTGGGCGGTTTCCAATACGGAAGACACAGTCATGCAAATTAAGTTTAACCTGCACTCTGGACTCTGTGTACCACTCTCCACCATGGTAAGCACCCCCTCCTGTCTCCCAGCCCTCTGTACCCCTCTCCCAGCAACGGGGTTGAGGAGCAAAACGCCAGCTTAATCCTGGGCAGAGAGAAGTTCAGGGCCCAAGGCCATACCTGGCTTCCTCAGCCTCAGCCTGCAACCGGCGGGCACGCGCAATGTCCTGCTTGGTCTGGGACAGCACCAAGTCCACGTTGGGGAGCCTGGCTGCAATGGCCTGGATCTCATTCATCTTCTGCAGAACAGTAGCTGAGTCTGTGGGCAGCCACAGGGCCAGCACGGCCTCGCTGACCTCCTGGATAGTGGCTGCATCAGTGTCGGGGTCTGGAAGACAACACGCATTTGACTGTAGGAGCCCACTAACCTCCCCAGAGATACGAGGCCTCTCCTAGCTGAGCAGCACTTGTGGAAGGCACCCACAGTGGCCCCTCTACCGTGGTGTCCCAAGGAGCTGCTGCCCCCTTTCAACCAGACTCAGGCGCCTGTTCTCCAGGGATTTCTGGGAATGCTGTAGGAGGATGACTATCCTGTGCTCCATGCTGCAGCAGGGAGGAGGAGGGGTGTCGTCACAGCTGTGCCAACTAAGTGTCTGGTGCCACAGGAAGCTGCGGGCTGGGGAGAAGGAGGTGGTGCCAGACAGCTGGTACTGAACAATGCCTGCAGCACATGCACAATCAGCCCTAAATTGGGAAGAGTGGCCAGAAACTGGAGCTGCTTCCTTGGCAAAAAGACCCCTTCCCTGCATTCCCCCTCAGGCAAGATTGCTCATTTGTGCAAAGGCAAATAAGAATGATCAAGTCTCTGCTGGAATATCACCTTCTCAGGGAGGCCAACCCCAGCCATCCAATCTAGAATTGCAACCTCCACCCTGGACTGTAGCACACCTTATCGTCCCTCCCTGCCTTATCTTTCTGTCTAGCACTTGCACCACCCATGTGCCAAACACTGTACTCATTTAACTGGTTTGTTTGGTCTCTTTTCCTCTAGAATGTAAGCTCTACAAGGGCAGGGCCTGGGTTTTGTCCACAGCTATATCCCCAGACCCCAGCACAGTGCCTGGCACTTGGAGGTCCTCATGTGCGTAGAGTGAATGAATGATTGACAGGGCTTCAGGTTCAGATCTCTGCTTTACTATTCAAGCCACCTGGGCAAGTCAAGT
|
pathogenic
| 21,190
|
Evaluate the clinical significance of the mutation at chromosome 1, position 209617474 in gene LAMB3 (laminin subunit beta 3): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz']
|
CAGCAGGAGGAGGAGTTGATGGTGAGACTCCCCAAGACTCCCAACCCTTCCTTCCCCTCCTGCTAACTGGAGGTAGCATGTGTAGAGGAATCCCCTCCAGAAAAATCTGGCCTCTAAAGCAGTGGTGCCCCTCCAGCTTCATGCCTCTCCAGCCCCATCCCATGCTTAGTAACCTGGCAGGGGCCAAACCCAGCAGGCTCCCACTCCTAATTATCCCTGGGCCCCTGACCCTCTGGGCTCTCACAGTTGTCCAAGGCTAATGAAGGAGGTCACAAACACCCATCATCATATCTTAGCGATGACTCTAGTTCCCAGGAGCCCCTGTTCTCCTTTCTAAGGAATTTTTGGAACCCTTTTGAAAGCTACTTTCATTATGTTTCTGTCATATTCAAAGCCCTTGGATGTGCCCTACCGCCTCCTGAGCTATCTACCCTCCTCATCCTCACACTAGAAGCCAGGCACAGGGACAAGTCATGTTGACCTCATGCCACTTCTTTCCTACCAGCTCCTCAGCAACCCTCTTCTCCTGTCCCTATGTCAGAACATATCTTGTTGGGGCTTCCCAACACCCTTATCCTAATGTCCCTCCTCTTCCTCACAGCTTCTCCCAGGCCTACACATCCTTCCAGGCCCATCTCAAATCTTCTTTTCTTACCTTCACTGAACATGTCTCTCTCAAATTATTTATTCCCTGAACCCCAGAACTCTTATTATTCAACCCCTATCAGAGACCACCTCATCCTGTTAAATATAATTCTATGCATCTTAAGCATAAAGCAATAGGAATAAAAAATATGACCCCACTGTTTGCAAAAACAGAGAAAATGGTCCCATTAATTGCAAGCTTTTTGAGGCCAGGACAAGTCATGGGACCATCTCTGCATTCCCCAGCCTCATACATGCTAGATGCCCAGAAAAAATCTCATTTGATCTCACTCCCATAGCACGGCTAGCTCCAATAAGAACGGGCTTCAGAAGCCTTGGGTTGGGTGGGACCAGCCTTCATGAATGCCCAATAGTCCATGCCCCTAAACCATTCCCTCACCTTTCATCCTGTCCATCATCTCCATGGTCTCCCCAAACAGCTCCTCTGCCTCTGTCTTCACACTCTGGATCCGGGCACCCTGCTCACCCAGCATGGAACTCTGACCCAACCGGTCCTTCAACTCAGCATACTTTTGTTTTATTCTCTCAAATCCCTGAAAAAGGTAGAATAGTCTCAGTGTCATTGTCATCATGCAAGGTCCTAAAGACCTGTGGCCAAAGCACTTGATATCACCCAAATCAATACACAGTGGGAAGGTGCCTCCTATTAGCCCCCAATAGCATTGGTTTTGCCTATTGAAACCCCTGAGCCACAGACTATGACTTAAACTTCTGTGTTTCCCTCTTCCCATCTCCAGCTCTTGACATGACCCACCTCACTCCCAGGACAATGTCAGTCACATCATAGGATATTAATAGTAGGCTGTCACTTAATAGCATACTTAGCAACTTGGTCACTGTGCCAGGATTGAAAGTGCCAATGTTCCTGGCCATAGCGGGAGCAGGTAGTGTGCTTGAGACACTGAGAATGGGCTCTTTGATCTTCTCTCTCATCTAATTCTGACAATCATGGAGCCCAGGTTAGGTTAAGCAAAGAGCATCTGTCCAGGCTGGGAATCCAAGAGACAAGCTCTGGATCCAGTGTCAGGGGACCTGCTTTGTAGATGATTCTTAGGCCTGTGAACGAGTCACCACCTCATCTGTAAAAGGAAAGGGACTGGACTAGGTCATCTCCAGTGTCCCTGAGCCAGCTATACCAAAAGCAGTGGAGGGAGAAATCAGATGCCTGGCCAGGTTTGGGTTGACTCTCAAGCCTCTTCTGGTTCTGTTATTCTAAGCACTTTTGAGTTTGTGGTCTTATAAAGTGTGCAAAGTCCTCCTCTGCTCAGGACCCCCTCACTGGCCGTACATCATTGAGCTAACTCCGCCTTCTCTGTACCTCTTGGGCACTCAATGCCTGCTCGCTGGCACCTTCCGCAAGCTGCTGGGCCTGGACTGCCTCTGCCCCCTGCTGCCGGGCTTGGTGGCGGAGCTCCTCCATCCGTGTCCAGAAGTCACCCAGCTGCTTGGTCATGCTTGTCACCAGCTTTTCTGCTGGCCGCAGTACCTGCTGAACCTTTGTGGAAAGAGGGAGATCTGGCCTTTGTGGTGGGTCTCATAGGTCGGGGGGTTCATCCCCATTTTTTCTCCAACTCATCAGGCAGCAAAAACCCTCTCCAACCAGAACAAACACAATTGCCCACCTCTCACCCCTCCTTCTGCATCCCAGCCACAAGACCAGAAAATCCAAGGCCCATAGCCTGCCCAAAGCTTGTCACTCTCCTCTAGAACTCCACCTCAGGTTTTATCTAGTCACTTTCTGGCATTTTCTATGCCTGGTGCCCAAATTTTCCTGTTTATGCCCAAATATGGGCGGAGGAAGCCATAATGCCTCACCTCAGCAACCCTGTCCTGGATAAGCCGAAGGGAGCGGCTGGTGCCTTGCATGGTGTCCTGAGCTTCCTGCAGTGCCACTGTCCCCTGCCGCAGGTTCCCAACCACATCTTCCACCTGGCCCTCCACTGCATGGGCTCGGCTCCTGGGTGAGAGAAGCAGCAGGGAGAGGAGAGAGAGAATGAGTGAACAGTGAATCAATGTGTGGTTCGACTCACACACCAGTCCAAAAGAACACCCTTCCCAGCCAAGGCAAAGAGCAAGGAAAGTATTAACTCAGTAGCTTTGATGTCCCAGGACCCCACCAAGCAGACGTGATGAATGTTCCCATTATGCCCAAGACACCTTCTGGGCGGTTTCCAATACGGAAGACACAGTCATGCAAATTAAGTTTAACCTGCACTCTGGACTCTGTGTACCACTCTCCACCATGGTAAGCACCCCCTCCTGTCTCCCAGCCCTCTGTACCCCTCTCCCAGCAACGGGGTTGAGGAGCAAAACGCCAGCTTAATCCTGGGCAGAGAGAAGTTCAGGGCCCAAGGCCATACCTGGCTTCCTCAGCCTCAGCCTGCAACCGGCGGGCACGCGCAATGTCCTGCTTGGTCTGGGACAGCACCAAGTCCACGTTGGGGAGCCTGGCTGCAATGGCCTGGATCTCATTCATCTTCTGCAGAACAGTAGCTGAGTCTGTGGGCAGCCACAGGGCCAGCACGGCCTCGCTGACCTCCTGGATAGTGGCTGCATCAGTGTCGGGGTCTGGAAGACAACACGCATTTGACTGTAGGAGCCCACTAACCTCCCCAGAGATACGAGGCCTCTCCTAGCTGAGCAGCACTTGTGGAAGGCACCCACAGTGGCCCCTCTACCGTGGTGTCCCAAGGAGCTGCTGCCCCCTTTCAACCAGACTCAGGCGCCTGTTCTCCAGGGATTTCTGGGAATGCTGTAGGAGGATGACTATCCTGTGCTCCATGCTGCAGCAGGGAGGAGGAGGGGTGTCGTCACAGCTGTGCCAACTAAGTGTCTGGTGCCACAGGAAGCTGCGGGCTGGGGAGAAGGAGGTGGTGCCAGACAGCTGGTACTGAACAATGCCTGCAGCACATGCACAATCAGCCCTAAATTGGGAAGAGTGGCCAGAAACTGGAGCTGCTTCCTTGGCAAAAAGACCCCTTCCCTGCATTCCCCCTCAGGCAAGATTGCTCATTTGTGCAAAGGCAAATAAGAATGATCAAGTCTCTGCTGGAATATCACCTTCTCAGGGAGGCCAACCCCAGCCATCCAATCTAGAATTGCAACCTCCACCCTGGACTGTAGCACACCTTATCGTCCCTCCCTGCCTTATCTTTCTGTCTAGCACTTGCACCACCCATGTGCCAAACACTGTACTCATTTAACTGGTTTGTTTGGTCTCTTTTCCTCTAGAATGTAAGCTCTACAAGGGCAGGGCCTGGGTTTTGTCCACAGCTATATCCCCAGACCCCAGCACAGTGCCTGGCACTTGGAGGTCCTCATGTGCGTAGAGTGAATGAATGATTGACAGGGCTTCAGGTTCAGATCTCTGCTTTACTATTCAAGCCACCTGGGCAAGTCAAGTGGTTCCTCTAAGCTCAGTTTCCTGATC
|
CAGCAGGAGGAGGAGTTGATGGTGAGACTCCCCAAGACTCCCAACCCTTCCTTCCCCTCCTGCTAACTGGAGGTAGCATGTGTAGAGGAATCCCCTCCAGAAAAATCTGGCCTCTAAAGCAGTGGTGCCCCTCCAGCTTCATGCCTCTCCAGCCCCATCCCATGCTTAGTAACCTGGCAGGGGCCAAACCCAGCAGGCTCCCACTCCTAATTATCCCTGGGCCCCTGACCCTCTGGGCTCTCACAGTTGTCCAAGGCTAATGAAGGAGGTCACAAACACCCATCATCATATCTTAGCGATGACTCTAGTTCCCAGGAGCCCCTGTTCTCCTTTCTAAGGAATTTTTGGAACCCTTTTGAAAGCTACTTTCATTATGTTTCTGTCATATTCAAAGCCCTTGGATGTGCCCTACCGCCTCCTGAGCTATCTACCCTCCTCATCCTCACACTAGAAGCCAGGCACAGGGACAAGTCATGTTGACCTCATGCCACTTCTTTCCTACCAGCTCCTCAGCAACCCTCTTCTCCTGTCCCTATGTCAGAACATATCTTGTTGGGGCTTCCCAACACCCTTATCCTAATGTCCCTCCTCTTCCTCACAGCTTCTCCCAGGCCTACACATCCTTCCAGGCCCATCTCAAATCTTCTTTTCTTACCTTCACTGAACATGTCTCTCTCAAATTATTTATTCCCTGAACCCCAGAACTCTTATTATTCAACCCCTATCAGAGACCACCTCATCCTGTTAAATATAATTCTATGCATCTTAAGCATAAAGCAATAGGAATAAAAAATATGACCCCACTGTTTGCAAAAACAGAGAAAATGGTCCCATTAATTGCAAGCTTTTTGAGGCCAGGACAAGTCATGGGACCATCTCTGCATTCCCCAGCCTCATACATGCTAGATGCCCAGAAAAAATCTCATTTGATCTCACTCCCATAGCACGGCTAGCTCCAATAAGAACGGGCTTCAGAAGCCTTGGGTTGGGTGGGACCAGCCTTCATGAATGCCCAATAGTCCATGCCCCTAAACCATTCCCTCACCTTTCATCCTGTCCATCATCTCCATGGTCTCCCCAAACAGCTCCTCTGCCTCTGTCTTCACACTCTGGATCCGGGCACCCTGCTCACCCAGCATGGAACTCTGACCCAACCGGTCCTTCAACTCAGCATACTTTTGTTTTATTCTCTCAAATCCCTGAAAAAGGTAGAATAGTCTCAGTGTCATTGTCATCATGCAAGGTCCTAAAGACCTGTGGCCAAAGCACTTGATATCACCCAAATCAATACACAGTGGGAAGGTGCCTCCTATTAGCCCCCAATAGCATTGGTTTTGCCTATTGAAACCCCTGAGCCACAGACTATGACTTAAACTTCTGTGTTTCCCTCTTCCCATCTCCAGCTCTTGACATGACCCACCTCACTCCCAGGACAATGTCAGTCACATCATAGGATATTAATAGTAGGCTGTCACTTAATAGCATACTTAGCAACTTGGTCACTGTGCCAGGATTGAAAGTGCCAATGTTCCTGGCCATAGCGGGAGCAGGTAGTGTGCTTGAGACACTGAGAATGGGCTCTTTGATCTTCTCTCTCATCTAATTCTGACAATCATGGAGCCCAGGTTAGGTTAAGCAAAGAGCATCTGTCCAGGCTGGGAATCCAAGAGACAAGCTCTGGATCCAGTGTCAGGGGACCTGCTTTGTAGATGATTCTTAGGCCTGTGAACGAGTCACCACCTCATCTGTAAAAGGAAAGGGACTGGACTAGGTCATCTCCAGTGTCCCTGAGCCAGCTATACCAAAAGCAGTGGAGGGAGAAATCAGATGCCTGGCCAGGTTTGGGTTGACTCTCAAGCCTCTTCTGGTTCTGTTATTCTAAGCACTTTTGAGTTTGTGGTCTTATAAAGTGTGCAAAGTCCTCCTCTGCTCAGGACCCCCTCACTGGCCGTACATCATTGAGCTAACTCCGCCTTCTCTGTACCTCTTGGGCACTCAATGCCTGCTCGCTGGCACCTTCCGCAAGCTGCTGGGCCTGGACTGCCTCTGCCCCTGCTGCCGGGCTTGGTGGCGGAGCTCCTCCATCCGTGTCCAGAAGTCACCCAGCTGCTTGGTCATGCTTGTCACCAGCTTTTCTGCTGGCCGCAGTACCTGCTGAACCTTTGTGGAAAGAGGGAGATCTGGCCTTTGTGGTGGGTCTCATAGGTCGGGGGGTTCATCCCCATTTTTTCTCCAACTCATCAGGCAGCAAAAACCCTCTCCAACCAGAACAAACACAATTGCCCACCTCTCACCCCTCCTTCTGCATCCCAGCCACAAGACCAGAAAATCCAAGGCCCATAGCCTGCCCAAAGCTTGTCACTCTCCTCTAGAACTCCACCTCAGGTTTTATCTAGTCACTTTCTGGCATTTTCTATGCCTGGTGCCCAAATTTTCCTGTTTATGCCCAAATATGGGCGGAGGAAGCCATAATGCCTCACCTCAGCAACCCTGTCCTGGATAAGCCGAAGGGAGCGGCTGGTGCCTTGCATGGTGTCCTGAGCTTCCTGCAGTGCCACTGTCCCCTGCCGCAGGTTCCCAACCACATCTTCCACCTGGCCCTCCACTGCATGGGCTCGGCTCCTGGGTGAGAGAAGCAGCAGGGAGAGGAGAGAGAGAATGAGTGAACAGTGAATCAATGTGTGGTTCGACTCACACACCAGTCCAAAAGAACACCCTTCCCAGCCAAGGCAAAGAGCAAGGAAAGTATTAACTCAGTAGCTTTGATGTCCCAGGACCCCACCAAGCAGACGTGATGAATGTTCCCATTATGCCCAAGACACCTTCTGGGCGGTTTCCAATACGGAAGACACAGTCATGCAAATTAAGTTTAACCTGCACTCTGGACTCTGTGTACCACTCTCCACCATGGTAAGCACCCCCTCCTGTCTCCCAGCCCTCTGTACCCCTCTCCCAGCAACGGGGTTGAGGAGCAAAACGCCAGCTTAATCCTGGGCAGAGAGAAGTTCAGGGCCCAAGGCCATACCTGGCTTCCTCAGCCTCAGCCTGCAACCGGCGGGCACGCGCAATGTCCTGCTTGGTCTGGGACAGCACCAAGTCCACGTTGGGGAGCCTGGCTGCAATGGCCTGGATCTCATTCATCTTCTGCAGAACAGTAGCTGAGTCTGTGGGCAGCCACAGGGCCAGCACGGCCTCGCTGACCTCCTGGATAGTGGCTGCATCAGTGTCGGGGTCTGGAAGACAACACGCATTTGACTGTAGGAGCCCACTAACCTCCCCAGAGATACGAGGCCTCTCCTAGCTGAGCAGCACTTGTGGAAGGCACCCACAGTGGCCCCTCTACCGTGGTGTCCCAAGGAGCTGCTGCCCCCTTTCAACCAGACTCAGGCGCCTGTTCTCCAGGGATTTCTGGGAATGCTGTAGGAGGATGACTATCCTGTGCTCCATGCTGCAGCAGGGAGGAGGAGGGGTGTCGTCACAGCTGTGCCAACTAAGTGTCTGGTGCCACAGGAAGCTGCGGGCTGGGGAGAAGGAGGTGGTGCCAGACAGCTGGTACTGAACAATGCCTGCAGCACATGCACAATCAGCCCTAAATTGGGAAGAGTGGCCAGAAACTGGAGCTGCTTCCTTGGCAAAAAGACCCCTTCCCTGCATTCCCCCTCAGGCAAGATTGCTCATTTGTGCAAAGGCAAATAAGAATGATCAAGTCTCTGCTGGAATATCACCTTCTCAGGGAGGCCAACCCCAGCCATCCAATCTAGAATTGCAACCTCCACCCTGGACTGTAGCACACCTTATCGTCCCTCCCTGCCTTATCTTTCTGTCTAGCACTTGCACCACCCATGTGCCAAACACTGTACTCATTTAACTGGTTTGTTTGGTCTCTTTTCCTCTAGAATGTAAGCTCTACAAGGGCAGGGCCTGGGTTTTGTCCACAGCTATATCCCCAGACCCCAGCACAGTGCCTGGCACTTGGAGGTCCTCATGTGCGTAGAGTGAATGAATGATTGACAGGGCTTCAGGTTCAGATCTCTGCTTTACTATTCAAGCCACCTGGGCAAGTCAAGTGGTTCCTCTAAGCTCAGTTTCCTGATCN
|
pathogenic
| 21,191
|
Clinically, how would you classify the variant at chromosome 1, position 209617933, gene LAMB3 (laminin subunit beta 3): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz']
|
CACAGGGACAAGTCATGTTGACCTCATGCCACTTCTTTCCTACCAGCTCCTCAGCAACCCTCTTCTCCTGTCCCTATGTCAGAACATATCTTGTTGGGGCTTCCCAACACCCTTATCCTAATGTCCCTCCTCTTCCTCACAGCTTCTCCCAGGCCTACACATCCTTCCAGGCCCATCTCAAATCTTCTTTTCTTACCTTCACTGAACATGTCTCTCTCAAATTATTTATTCCCTGAACCCCAGAACTCTTATTATTCAACCCCTATCAGAGACCACCTCATCCTGTTAAATATAATTCTATGCATCTTAAGCATAAAGCAATAGGAATAAAAAATATGACCCCACTGTTTGCAAAAACAGAGAAAATGGTCCCATTAATTGCAAGCTTTTTGAGGCCAGGACAAGTCATGGGACCATCTCTGCATTCCCCAGCCTCATACATGCTAGATGCCCAGAAAAAATCTCATTTGATCTCACTCCCATAGCACGGCTAGCTCCAATAAGAACGGGCTTCAGAAGCCTTGGGTTGGGTGGGACCAGCCTTCATGAATGCCCAATAGTCCATGCCCCTAAACCATTCCCTCACCTTTCATCCTGTCCATCATCTCCATGGTCTCCCCAAACAGCTCCTCTGCCTCTGTCTTCACACTCTGGATCCGGGCACCCTGCTCACCCAGCATGGAACTCTGACCCAACCGGTCCTTCAACTCAGCATACTTTTGTTTTATTCTCTCAAATCCCTGAAAAAGGTAGAATAGTCTCAGTGTCATTGTCATCATGCAAGGTCCTAAAGACCTGTGGCCAAAGCACTTGATATCACCCAAATCAATACACAGTGGGAAGGTGCCTCCTATTAGCCCCCAATAGCATTGGTTTTGCCTATTGAAACCCCTGAGCCACAGACTATGACTTAAACTTCTGTGTTTCCCTCTTCCCATCTCCAGCTCTTGACATGACCCACCTCACTCCCAGGACAATGTCAGTCACATCATAGGATATTAATAGTAGGCTGTCACTTAATAGCATACTTAGCAACTTGGTCACTGTGCCAGGATTGAAAGTGCCAATGTTCCTGGCCATAGCGGGAGCAGGTAGTGTGCTTGAGACACTGAGAATGGGCTCTTTGATCTTCTCTCTCATCTAATTCTGACAATCATGGAGCCCAGGTTAGGTTAAGCAAAGAGCATCTGTCCAGGCTGGGAATCCAAGAGACAAGCTCTGGATCCAGTGTCAGGGGACCTGCTTTGTAGATGATTCTTAGGCCTGTGAACGAGTCACCACCTCATCTGTAAAAGGAAAGGGACTGGACTAGGTCATCTCCAGTGTCCCTGAGCCAGCTATACCAAAAGCAGTGGAGGGAGAAATCAGATGCCTGGCCAGGTTTGGGTTGACTCTCAAGCCTCTTCTGGTTCTGTTATTCTAAGCACTTTTGAGTTTGTGGTCTTATAAAGTGTGCAAAGTCCTCCTCTGCTCAGGACCCCCTCACTGGCCGTACATCATTGAGCTAACTCCGCCTTCTCTGTACCTCTTGGGCACTCAATGCCTGCTCGCTGGCACCTTCCGCAAGCTGCTGGGCCTGGACTGCCTCTGCCCCCTGCTGCCGGGCTTGGTGGCGGAGCTCCTCCATCCGTGTCCAGAAGTCACCCAGCTGCTTGGTCATGCTTGTCACCAGCTTTTCTGCTGGCCGCAGTACCTGCTGAACCTTTGTGGAAAGAGGGAGATCTGGCCTTTGTGGTGGGTCTCATAGGTCGGGGGGTTCATCCCCATTTTTTCTCCAACTCATCAGGCAGCAAAAACCCTCTCCAACCAGAACAAACACAATTGCCCACCTCTCACCCCTCCTTCTGCATCCCAGCCACAAGACCAGAAAATCCAAGGCCCATAGCCTGCCCAAAGCTTGTCACTCTCCTCTAGAACTCCACCTCAGGTTTTATCTAGTCACTTTCTGGCATTTTCTATGCCTGGTGCCCAAATTTTCCTGTTTATGCCCAAATATGGGCGGAGGAAGCCATAATGCCTCACCTCAGCAACCCTGTCCTGGATAAGCCGAAGGGAGCGGCTGGTGCCTTGCATGGTGTCCTGAGCTTCCTGCAGTGCCACTGTCCCCTGCCGCAGGTTCCCAACCACATCTTCCACCTGGCCCTCCACTGCATGGGCTCGGCTCCTGGGTGAGAGAAGCAGCAGGGAGAGGAGAGAGAGAATGAGTGAACAGTGAATCAATGTGTGGTTCGACTCACACACCAGTCCAAAAGAACACCCTTCCCAGCCAAGGCAAAGAGCAAGGAAAGTATTAACTCAGTAGCTTTGATGTCCCAGGACCCCACCAAGCAGACGTGATGAATGTTCCCATTATGCCCAAGACACCTTCTGGGCGGTTTCCAATACGGAAGACACAGTCATGCAAATTAAGTTTAACCTGCACTCTGGACTCTGTGTACCACTCTCCACCATGGTAAGCACCCCCTCCTGTCTCCCAGCCCTCTGTACCCCTCTCCCAGCAACGGGGTTGAGGAGCAAAACGCCAGCTTAATCCTGGGCAGAGAGAAGTTCAGGGCCCAAGGCCATACCTGGCTTCCTCAGCCTCAGCCTGCAACCGGCGGGCACGCGCAATGTCCTGCTTGGTCTGGGACAGCACCAAGTCCACGTTGGGGAGCCTGGCTGCAATGGCCTGGATCTCATTCATCTTCTGCAGAACAGTAGCTGAGTCTGTGGGCAGCCACAGGGCCAGCACGGCCTCGCTGACCTCCTGGATAGTGGCTGCATCAGTGTCGGGGTCTGGAAGACAACACGCATTTGACTGTAGGAGCCCACTAACCTCCCCAGAGATACGAGGCCTCTCCTAGCTGAGCAGCACTTGTGGAAGGCACCCACAGTGGCCCCTCTACCGTGGTGTCCCAAGGAGCTGCTGCCCCCTTTCAACCAGACTCAGGCGCCTGTTCTCCAGGGATTTCTGGGAATGCTGTAGGAGGATGACTATCCTGTGCTCCATGCTGCAGCAGGGAGGAGGAGGGGTGTCGTCACAGCTGTGCCAACTAAGTGTCTGGTGCCACAGGAAGCTGCGGGCTGGGGAGAAGGAGGTGGTGCCAGACAGCTGGTACTGAACAATGCCTGCAGCACATGCACAATCAGCCCTAAATTGGGAAGAGTGGCCAGAAACTGGAGCTGCTTCCTTGGCAAAAAGACCCCTTCCCTGCATTCCCCCTCAGGCAAGATTGCTCATTTGTGCAAAGGCAAATAAGAATGATCAAGTCTCTGCTGGAATATCACCTTCTCAGGGAGGCCAACCCCAGCCATCCAATCTAGAATTGCAACCTCCACCCTGGACTGTAGCACACCTTATCGTCCCTCCCTGCCTTATCTTTCTGTCTAGCACTTGCACCACCCATGTGCCAAACACTGTACTCATTTAACTGGTTTGTTTGGTCTCTTTTCCTCTAGAATGTAAGCTCTACAAGGGCAGGGCCTGGGTTTTGTCCACAGCTATATCCCCAGACCCCAGCACAGTGCCTGGCACTTGGAGGTCCTCATGTGCGTAGAGTGAATGAATGATTGACAGGGCTTCAGGTTCAGATCTCTGCTTTACTATTCAAGCCACCTGGGCAAGTCAAGTGGTTCCTCTAAGCTCAGTTTCCTGATCGGTGAAAAAGGAATATCAATCCCCAATCTGAAGGTACAACATGAAACAATCCATTTGCAAGAGTTGTTACAAACCAACTCTGGGTCAGAGGGTAAGGTCAGAAGTACAGAGATGACATCTCCTCCCCATCTCTCCCAATTTGCTTTTACAGATTTCACTGGTATTGAGGTATTAAGGAGGGGGGCACCCACTCACCAGATGATTTGCCCTGGAATCTGAACTCCTCTGGGGCCCCAGGCCCAGTTTCACTCTACAACTAGAGGATACTAGCTGGTCACACAGGTCTCATTCCCTGCCCCATCCCATGCCAGGTGGAAGGACACTCCTGGAGGGTGGAAGCCATGCTTGTTCATTGCTGTGTCCCTCGGGGCTTGCATGCAGCATAACTGTGGTTGAGTTTCATTAAGTGGGTTTATCCCAGCAGCAAGCTTTCATAAGGACCTTCCTAATAGAGCTCGT
|
CACAGGGACAAGTCATGTTGACCTCATGCCACTTCTTTCCTACCAGCTCCTCAGCAACCCTCTTCTCCTGTCCCTATGTCAGAACATATCTTGTTGGGGCTTCCCAACACCCTTATCCTAATGTCCCTCCTCTTCCTCACAGCTTCTCCCAGGCCTACACATCCTTCCAGGCCCATCTCAAATCTTCTTTTCTTACCTTCACTGAACATGTCTCTCTCAAATTATTTATTCCCTGAACCCCAGAACTCTTATTATTCAACCCCTATCAGAGACCACCTCATCCTGTTAAATATAATTCTATGCATCTTAAGCATAAAGCAATAGGAATAAAAAATATGACCCCACTGTTTGCAAAAACAGAGAAAATGGTCCCATTAATTGCAAGCTTTTTGAGGCCAGGACAAGTCATGGGACCATCTCTGCATTCCCCAGCCTCATACATGCTAGATGCCCAGAAAAAATCTCATTTGATCTCACTCCCATAGCACGGCTAGCTCCAATAAGAACGGGCTTCAGAAGCCTTGGGTTGGGTGGGACCAGCCTTCATGAATGCCCAATAGTCCATGCCCCTAAACCATTCCCTCACCTTTCATCCTGTCCATCATCTCCATGGTCTCCCCAAACAGCTCCTCTGCCTCTGTCTTCACACTCTGGATCCGGGCACCCTGCTCACCCAGCATGGAACTCTGACCCAACCGGTCCTTCAACTCAGCATACTTTTGTTTTATTCTCTCAAATCCCTGAAAAAGGTAGAATAGTCTCAGTGTCATTGTCATCATGCAAGGTCCTAAAGACCTGTGGCCAAAGCACTTGATATCACCCAAATCAATACACAGTGGGAAGGTGCCTCCTATTAGCCCCCAATAGCATTGGTTTTGCCTATTGAAACCCCTGAGCCACAGACTATGACTTAAACTTCTGTGTTTCCCTCTTCCCATCTCCAGCTCTTGACATGACCCACCTCACTCCCAGGACAATGTCAGTCACATCATAGGATATTAATAGTAGGCTGTCACTTAATAGCATACTTAGCAACTTGGTCACTGTGCCAGGATTGAAAGTGCCAATGTTCCTGGCCATAGCGGGAGCAGGTAGTGTGCTTGAGACACTGAGAATGGGCTCTTTGATCTTCTCTCTCATCTAATTCTGACAATCATGGAGCCCAGGTTAGGTTAAGCAAAGAGCATCTGTCCAGGCTGGGAATCCAAGAGACAAGCTCTGGATCCAGTGTCAGGGGACCTGCTTTGTAGATGATTCTTAGGCCTGTGAACGAGTCACCACCTCATCTGTAAAAGGAAAGGGACTGGACTAGGTCATCTCCAGTGTCCCTGAGCCAGCTATACCAAAAGCAGTGGAGGGAGAAATCAGATGCCTGGCCAGGTTTGGGTTGACTCTCAAGCCTCTTCTGGTTCTGTTATTCTAAGCACTTTTGAGTTTGTGGTCTTATAAAGTGTGCAAAGTCCTCCTCTGCTCAGGACCCCCTCACTGGCCGTACATCATTGAGCTAACTCCGCCTTCTCTGTACCTCTTGGGCACTCAATGCCTGCTCGCTGGCACCTTCCGCAAGCTGCTGGGCCTGGACTGCCTCTGCCCCCTGCTGCCGGGCTTGGTGGCGGAGCTCCTCCATCCGTGTCCAGAAGTCACCCAGCTGCTTGGTCATGCTTGTCACCAGCTTTTCTGCTGGCCGCAGTACCTGCTGAACCTTTGTGGAAAGAGGGAGATCTGGCCTTTGTGGTGGGTCTCATAGGTCGGGGGGTTCATCCCCATTTTTTCTCCAACTCATCAGGCAGCAAAAACCCTCTCCAACCAGAACAAACACAATTGCCCACCTCTCACCCCTCCTTCTGCATCCCAGCCACAAGACCAGAAAATCCAAGGCCCATAGCCTGCCCAAAGCTTGTCACTCTCCTCTAGAACTCCACCTCAGGTTTTATCTAGTCACTTTCTGGCATTTTCTATGCCTGGTGCCCAAATTTTCCTGTTTATGCCCAAATATGGGCGGAGGAAGCCATAATGCCTCACCTCAGCAACCCTGTCCTGGATAAGCCGAGGGAGCGGCTGGTGCCTTGCATGGTGTCCTGAGCTTCCTGCAGTGCCACTGTCCCCTGCCGCAGGTTCCCAACCACATCTTCCACCTGGCCCTCCACTGCATGGGCTCGGCTCCTGGGTGAGAGAAGCAGCAGGGAGAGGAGAGAGAGAATGAGTGAACAGTGAATCAATGTGTGGTTCGACTCACACACCAGTCCAAAAGAACACCCTTCCCAGCCAAGGCAAAGAGCAAGGAAAGTATTAACTCAGTAGCTTTGATGTCCCAGGACCCCACCAAGCAGACGTGATGAATGTTCCCATTATGCCCAAGACACCTTCTGGGCGGTTTCCAATACGGAAGACACAGTCATGCAAATTAAGTTTAACCTGCACTCTGGACTCTGTGTACCACTCTCCACCATGGTAAGCACCCCCTCCTGTCTCCCAGCCCTCTGTACCCCTCTCCCAGCAACGGGGTTGAGGAGCAAAACGCCAGCTTAATCCTGGGCAGAGAGAAGTTCAGGGCCCAAGGCCATACCTGGCTTCCTCAGCCTCAGCCTGCAACCGGCGGGCACGCGCAATGTCCTGCTTGGTCTGGGACAGCACCAAGTCCACGTTGGGGAGCCTGGCTGCAATGGCCTGGATCTCATTCATCTTCTGCAGAACAGTAGCTGAGTCTGTGGGCAGCCACAGGGCCAGCACGGCCTCGCTGACCTCCTGGATAGTGGCTGCATCAGTGTCGGGGTCTGGAAGACAACACGCATTTGACTGTAGGAGCCCACTAACCTCCCCAGAGATACGAGGCCTCTCCTAGCTGAGCAGCACTTGTGGAAGGCACCCACAGTGGCCCCTCTACCGTGGTGTCCCAAGGAGCTGCTGCCCCCTTTCAACCAGACTCAGGCGCCTGTTCTCCAGGGATTTCTGGGAATGCTGTAGGAGGATGACTATCCTGTGCTCCATGCTGCAGCAGGGAGGAGGAGGGGTGTCGTCACAGCTGTGCCAACTAAGTGTCTGGTGCCACAGGAAGCTGCGGGCTGGGGAGAAGGAGGTGGTGCCAGACAGCTGGTACTGAACAATGCCTGCAGCACATGCACAATCAGCCCTAAATTGGGAAGAGTGGCCAGAAACTGGAGCTGCTTCCTTGGCAAAAAGACCCCTTCCCTGCATTCCCCCTCAGGCAAGATTGCTCATTTGTGCAAAGGCAAATAAGAATGATCAAGTCTCTGCTGGAATATCACCTTCTCAGGGAGGCCAACCCCAGCCATCCAATCTAGAATTGCAACCTCCACCCTGGACTGTAGCACACCTTATCGTCCCTCCCTGCCTTATCTTTCTGTCTAGCACTTGCACCACCCATGTGCCAAACACTGTACTCATTTAACTGGTTTGTTTGGTCTCTTTTCCTCTAGAATGTAAGCTCTACAAGGGCAGGGCCTGGGTTTTGTCCACAGCTATATCCCCAGACCCCAGCACAGTGCCTGGCACTTGGAGGTCCTCATGTGCGTAGAGTGAATGAATGATTGACAGGGCTTCAGGTTCAGATCTCTGCTTTACTATTCAAGCCACCTGGGCAAGTCAAGTGGTTCCTCTAAGCTCAGTTTCCTGATCGGTGAAAAAGGAATATCAATCCCCAATCTGAAGGTACAACATGAAACAATCCATTTGCAAGAGTTGTTACAAACCAACTCTGGGTCAGAGGGTAAGGTCAGAAGTACAGAGATGACATCTCCTCCCCATCTCTCCCAATTTGCTTTTACAGATTTCACTGGTATTGAGGTATTAAGGAGGGGGGCACCCACTCACCAGATGATTTGCCCTGGAATCTGAACTCCTCTGGGGCCCCAGGCCCAGTTTCACTCTACAACTAGAGGATACTAGCTGGTCACACAGGTCTCATTCCCTGCCCCATCCCATGCCAGGTGGAAGGACACTCCTGGAGGGTGGAAGCCATGCTTGTTCATTGCTGTGTCCCTCGGGGCTTGCATGCAGCATAACTGTGGTTGAGTTTCATTAAGTGGGTTTATCCCAGCAGCAAGCTTTCATAAGGACCTTCCTAATAGAGCTCGTN
|
pathogenic
| 21,195
|
Variant chromosome 1, position 209618518, gene LAMB3 (laminin subunit beta 3): benign or pathogenic? Disease(s)?
|
pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz']
|
CCTTTCATCCTGTCCATCATCTCCATGGTCTCCCCAAACAGCTCCTCTGCCTCTGTCTTCACACTCTGGATCCGGGCACCCTGCTCACCCAGCATGGAACTCTGACCCAACCGGTCCTTCAACTCAGCATACTTTTGTTTTATTCTCTCAAATCCCTGAAAAAGGTAGAATAGTCTCAGTGTCATTGTCATCATGCAAGGTCCTAAAGACCTGTGGCCAAAGCACTTGATATCACCCAAATCAATACACAGTGGGAAGGTGCCTCCTATTAGCCCCCAATAGCATTGGTTTTGCCTATTGAAACCCCTGAGCCACAGACTATGACTTAAACTTCTGTGTTTCCCTCTTCCCATCTCCAGCTCTTGACATGACCCACCTCACTCCCAGGACAATGTCAGTCACATCATAGGATATTAATAGTAGGCTGTCACTTAATAGCATACTTAGCAACTTGGTCACTGTGCCAGGATTGAAAGTGCCAATGTTCCTGGCCATAGCGGGAGCAGGTAGTGTGCTTGAGACACTGAGAATGGGCTCTTTGATCTTCTCTCTCATCTAATTCTGACAATCATGGAGCCCAGGTTAGGTTAAGCAAAGAGCATCTGTCCAGGCTGGGAATCCAAGAGACAAGCTCTGGATCCAGTGTCAGGGGACCTGCTTTGTAGATGATTCTTAGGCCTGTGAACGAGTCACCACCTCATCTGTAAAAGGAAAGGGACTGGACTAGGTCATCTCCAGTGTCCCTGAGCCAGCTATACCAAAAGCAGTGGAGGGAGAAATCAGATGCCTGGCCAGGTTTGGGTTGACTCTCAAGCCTCTTCTGGTTCTGTTATTCTAAGCACTTTTGAGTTTGTGGTCTTATAAAGTGTGCAAAGTCCTCCTCTGCTCAGGACCCCCTCACTGGCCGTACATCATTGAGCTAACTCCGCCTTCTCTGTACCTCTTGGGCACTCAATGCCTGCTCGCTGGCACCTTCCGCAAGCTGCTGGGCCTGGACTGCCTCTGCCCCCTGCTGCCGGGCTTGGTGGCGGAGCTCCTCCATCCGTGTCCAGAAGTCACCCAGCTGCTTGGTCATGCTTGTCACCAGCTTTTCTGCTGGCCGCAGTACCTGCTGAACCTTTGTGGAAAGAGGGAGATCTGGCCTTTGTGGTGGGTCTCATAGGTCGGGGGGTTCATCCCCATTTTTTCTCCAACTCATCAGGCAGCAAAAACCCTCTCCAACCAGAACAAACACAATTGCCCACCTCTCACCCCTCCTTCTGCATCCCAGCCACAAGACCAGAAAATCCAAGGCCCATAGCCTGCCCAAAGCTTGTCACTCTCCTCTAGAACTCCACCTCAGGTTTTATCTAGTCACTTTCTGGCATTTTCTATGCCTGGTGCCCAAATTTTCCTGTTTATGCCCAAATATGGGCGGAGGAAGCCATAATGCCTCACCTCAGCAACCCTGTCCTGGATAAGCCGAAGGGAGCGGCTGGTGCCTTGCATGGTGTCCTGAGCTTCCTGCAGTGCCACTGTCCCCTGCCGCAGGTTCCCAACCACATCTTCCACCTGGCCCTCCACTGCATGGGCTCGGCTCCTGGGTGAGAGAAGCAGCAGGGAGAGGAGAGAGAGAATGAGTGAACAGTGAATCAATGTGTGGTTCGACTCACACACCAGTCCAAAAGAACACCCTTCCCAGCCAAGGCAAAGAGCAAGGAAAGTATTAACTCAGTAGCTTTGATGTCCCAGGACCCCACCAAGCAGACGTGATGAATGTTCCCATTATGCCCAAGACACCTTCTGGGCGGTTTCCAATACGGAAGACACAGTCATGCAAATTAAGTTTAACCTGCACTCTGGACTCTGTGTACCACTCTCCACCATGGTAAGCACCCCCTCCTGTCTCCCAGCCCTCTGTACCCCTCTCCCAGCAACGGGGTTGAGGAGCAAAACGCCAGCTTAATCCTGGGCAGAGAGAAGTTCAGGGCCCAAGGCCATACCTGGCTTCCTCAGCCTCAGCCTGCAACCGGCGGGCACGCGCAATGTCCTGCTTGGTCTGGGACAGCACCAAGTCCACGTTGGGGAGCCTGGCTGCAATGGCCTGGATCTCATTCATCTTCTGCAGAACAGTAGCTGAGTCTGTGGGCAGCCACAGGGCCAGCACGGCCTCGCTGACCTCCTGGATAGTGGCTGCATCAGTGTCGGGGTCTGGAAGACAACACGCATTTGACTGTAGGAGCCCACTAACCTCCCCAGAGATACGAGGCCTCTCCTAGCTGAGCAGCACTTGTGGAAGGCACCCACAGTGGCCCCTCTACCGTGGTGTCCCAAGGAGCTGCTGCCCCCTTTCAACCAGACTCAGGCGCCTGTTCTCCAGGGATTTCTGGGAATGCTGTAGGAGGATGACTATCCTGTGCTCCATGCTGCAGCAGGGAGGAGGAGGGGTGTCGTCACAGCTGTGCCAACTAAGTGTCTGGTGCCACAGGAAGCTGCGGGCTGGGGAGAAGGAGGTGGTGCCAGACAGCTGGTACTGAACAATGCCTGCAGCACATGCACAATCAGCCCTAAATTGGGAAGAGTGGCCAGAAACTGGAGCTGCTTCCTTGGCAAAAAGACCCCTTCCCTGCATTCCCCCTCAGGCAAGATTGCTCATTTGTGCAAAGGCAAATAAGAATGATCAAGTCTCTGCTGGAATATCACCTTCTCAGGGAGGCCAACCCCAGCCATCCAATCTAGAATTGCAACCTCCACCCTGGACTGTAGCACACCTTATCGTCCCTCCCTGCCTTATCTTTCTGTCTAGCACTTGCACCACCCATGTGCCAAACACTGTACTCATTTAACTGGTTTGTTTGGTCTCTTTTCCTCTAGAATGTAAGCTCTACAAGGGCAGGGCCTGGGTTTTGTCCACAGCTATATCCCCAGACCCCAGCACAGTGCCTGGCACTTGGAGGTCCTCATGTGCGTAGAGTGAATGAATGATTGACAGGGCTTCAGGTTCAGATCTCTGCTTTACTATTCAAGCCACCTGGGCAAGTCAAGTGGTTCCTCTAAGCTCAGTTTCCTGATCGGTGAAAAAGGAATATCAATCCCCAATCTGAAGGTACAACATGAAACAATCCATTTGCAAGAGTTGTTACAAACCAACTCTGGGTCAGAGGGTAAGGTCAGAAGTACAGAGATGACATCTCCTCCCCATCTCTCCCAATTTGCTTTTACAGATTTCACTGGTATTGAGGTATTAAGGAGGGGGGCACCCACTCACCAGATGATTTGCCCTGGAATCTGAACTCCTCTGGGGCCCCAGGCCCAGTTTCACTCTACAACTAGAGGATACTAGCTGGTCACACAGGTCTCATTCCCTGCCCCATCCCATGCCAGGTGGAAGGACACTCCTGGAGGGTGGAAGCCATGCTTGTTCATTGCTGTGTCCCTCGGGGCTTGCATGCAGCATAACTGTGGTTGAGTTTCATTAAGTGGGTTTATCCCAGCAGCAAGCTTTCATAAGGACCTTCCTAATAGAGCTCGTCAACCTCTCTTCTAACCCAGAGTCCCACTCTCAAAACAAGGCTTCATGTGCACCTTCTCAAGAAAGCCTTCCAGGATGAGCACATCCCCACCTAGATCTTGCCCTTCCTTTACTCTGCACCACTTCAGCTGCATCCTCAGGGTCAATCGGTATGACATTCAGTCGCAGAGCCTTCTGGGTCTCAGGATGGGCTCAGTAAATATTTACTGCTTTGAGCAAAAGCATGGGAGGAGTTGAGACTGCAAATCAAATTAAACTCAGTCCCTGCCTTTATGGAGCTGGAAATCTAATGGGAGACAGGCACATGAACAAGGAAGTACAGCTTTGAGTGAGCGGAGTAAACACAGGTGCTATGATGGCCATGGAAGGGGCCCCCAGCGCCATCTGATAGGTCCAGGGAGGCTGCCTGGAGAGTGGGATGCCTAGATTCCTAGAGGATGAGCAGGAGCTAGACAGGTCAGCAGAGGTGGGAGAGGGGAGACGATCCAGAGAGAGGAAAAACATTCGCAAAGGCAAGAGGCAAGAGAAAGTGTGTTTGTGTATGCACACTCGCATGTGTGTATGTATTTGTGTGTCTATGCCGTA
|
CCTTTCATCCTGTCCATCATCTCCATGGTCTCCCCAAACAGCTCCTCTGCCTCTGTCTTCACACTCTGGATCCGGGCACCCTGCTCACCCAGCATGGAACTCTGACCCAACCGGTCCTTCAACTCAGCATACTTTTGTTTTATTCTCTCAAATCCCTGAAAAAGGTAGAATAGTCTCAGTGTCATTGTCATCATGCAAGGTCCTAAAGACCTGTGGCCAAAGCACTTGATATCACCCAAATCAATACACAGTGGGAAGGTGCCTCCTATTAGCCCCCAATAGCATTGGTTTTGCCTATTGAAACCCCTGAGCCACAGACTATGACTTAAACTTCTGTGTTTCCCTCTTCCCATCTCCAGCTCTTGACATGACCCACCTCACTCCCAGGACAATGTCAGTCACATCATAGGATATTAATAGTAGGCTGTCACTTAATAGCATACTTAGCAACTTGGTCACTGTGCCAGGATTGAAAGTGCCAATGTTCCTGGCCATAGCGGGAGCAGGTAGTGTGCTTGAGACACTGAGAATGGGCTCTTTGATCTTCTCTCTCATCTAATTCTGACAATCATGGAGCCCAGGTTAGGTTAAGCAAAGAGCATCTGTCCAGGCTGGGAATCCAAGAGACAAGCTCTGGATCCAGTGTCAGGGGACCTGCTTTGTAGATGATTCTTAGGCCTGTGAACGAGTCACCACCTCATCTGTAAAAGGAAAGGGACTGGACTAGGTCATCTCCAGTGTCCCTGAGCCAGCTATACCAAAAGCAGTGGAGGGAGAAATCAGATGCCTGGCCAGGTTTGGGTTGACTCTCAAGCCTCTTCTGGTTCTGTTATTCTAAGCACTTTTGAGTTTGTGGTCTTATAAAGTGTGCAAAGTCCTCCTCTGCTCAGGACCCCCTCACTGGCCGTACATCATTGAGCTAACTCCGCCTTCTCTGTACCTCTTGGGCACTCAATGCCTGCTCGCTGGCACCTTCCGCAAGCTGCTGGGCCTGGACTGCCTCTGCCCCCTGCTGCCGGGCTTGGTGGCGGAGCTCCTCCATCCGTGTCCAGAAGTCACCCAGCTGCTTGGTCATGCTTGTCACCAGCTTTTCTGCTGGCCGCAGTACCTGCTGAACCTTTGTGGAAAGAGGGAGATCTGGCCTTTGTGGTGGGTCTCATAGGTCGGGGGGTTCATCCCCATTTTTTCTCCAACTCATCAGGCAGCAAAAACCCTCTCCAACCAGAACAAACACAATTGCCCACCTCTCACCCCTCCTTCTGCATCCCAGCCACAAGACCAGAAAATCCAAGGCCCATAGCCTGCCCAAAGCTTGTCACTCTCCTCTAGAACTCCACCTCAGGTTTTATCTAGTCACTTTCTGGCATTTTCTATGCCTGGTGCCCAAATTTTCCTGTTTATGCCCAAATATGGGCGGAGGAAGCCATAATGCCTCACCTCAGCAACCCTGTCCTGGATAAGCCGAAGGGAGCGGCTGGTGCCTTGCATGGTGTCCTGAGCTTCCTGCAGTGCCACTGTCCCCTGCCGCAGGTTCCCAACCACATCTTCCACCTGGCCCTCCACTGCATGGGCTCGGCTCCTGGGTGAGAGAAGCAGCAGGGAGAGGAGAGAGAGAATGAGTGAACAGTGAATCAATGTGTGGTTCGACTCACACACCAGTCCAAAAGAACACCCTTCCCAGCCAAGGCAAAGAGCAAGGAAAGTATTAACTCAGTAGCTTTGATGTCCCAGGACCCCACCAAGCAGACGTGATGAATGTTCCCATTATGCCCAAGACACCTTCTGGGCGGTTTCCAATACGGAAGACACAGTCATGCAAATTAAGTTTAACCTGCACTCTGGACTCTGTGTACCACTCTCCACCATGGTAAGCACCCCCTCCTGTCTCCCAGCCCTCTGTACCCCTCTCCCAGCAACGGGGTTGAGGAGCAAAACGCCAGCTTAATCCTGGGCAGAGAGAAGTTCAGGGCCCAAGGCCATACCTGGCTTCCTCAGCCTCAGCCTGCAACCGGCGGGCACGCGCAATGTCCTGCTTGGTCTGGGACAGCACAAGTCCACGTTGGGGAGCCTGGCTGCAATGGCCTGGATCTCATTCATCTTCTGCAGAACAGTAGCTGAGTCTGTGGGCAGCCACAGGGCCAGCACGGCCTCGCTGACCTCCTGGATAGTGGCTGCATCAGTGTCGGGGTCTGGAAGACAACACGCATTTGACTGTAGGAGCCCACTAACCTCCCCAGAGATACGAGGCCTCTCCTAGCTGAGCAGCACTTGTGGAAGGCACCCACAGTGGCCCCTCTACCGTGGTGTCCCAAGGAGCTGCTGCCCCCTTTCAACCAGACTCAGGCGCCTGTTCTCCAGGGATTTCTGGGAATGCTGTAGGAGGATGACTATCCTGTGCTCCATGCTGCAGCAGGGAGGAGGAGGGGTGTCGTCACAGCTGTGCCAACTAAGTGTCTGGTGCCACAGGAAGCTGCGGGCTGGGGAGAAGGAGGTGGTGCCAGACAGCTGGTACTGAACAATGCCTGCAGCACATGCACAATCAGCCCTAAATTGGGAAGAGTGGCCAGAAACTGGAGCTGCTTCCTTGGCAAAAAGACCCCTTCCCTGCATTCCCCCTCAGGCAAGATTGCTCATTTGTGCAAAGGCAAATAAGAATGATCAAGTCTCTGCTGGAATATCACCTTCTCAGGGAGGCCAACCCCAGCCATCCAATCTAGAATTGCAACCTCCACCCTGGACTGTAGCACACCTTATCGTCCCTCCCTGCCTTATCTTTCTGTCTAGCACTTGCACCACCCATGTGCCAAACACTGTACTCATTTAACTGGTTTGTTTGGTCTCTTTTCCTCTAGAATGTAAGCTCTACAAGGGCAGGGCCTGGGTTTTGTCCACAGCTATATCCCCAGACCCCAGCACAGTGCCTGGCACTTGGAGGTCCTCATGTGCGTAGAGTGAATGAATGATTGACAGGGCTTCAGGTTCAGATCTCTGCTTTACTATTCAAGCCACCTGGGCAAGTCAAGTGGTTCCTCTAAGCTCAGTTTCCTGATCGGTGAAAAAGGAATATCAATCCCCAATCTGAAGGTACAACATGAAACAATCCATTTGCAAGAGTTGTTACAAACCAACTCTGGGTCAGAGGGTAAGGTCAGAAGTACAGAGATGACATCTCCTCCCCATCTCTCCCAATTTGCTTTTACAGATTTCACTGGTATTGAGGTATTAAGGAGGGGGGCACCCACTCACCAGATGATTTGCCCTGGAATCTGAACTCCTCTGGGGCCCCAGGCCCAGTTTCACTCTACAACTAGAGGATACTAGCTGGTCACACAGGTCTCATTCCCTGCCCCATCCCATGCCAGGTGGAAGGACACTCCTGGAGGGTGGAAGCCATGCTTGTTCATTGCTGTGTCCCTCGGGGCTTGCATGCAGCATAACTGTGGTTGAGTTTCATTAAGTGGGTTTATCCCAGCAGCAAGCTTTCATAAGGACCTTCCTAATAGAGCTCGTCAACCTCTCTTCTAACCCAGAGTCCCACTCTCAAAACAAGGCTTCATGTGCACCTTCTCAAGAAAGCCTTCCAGGATGAGCACATCCCCACCTAGATCTTGCCCTTCCTTTACTCTGCACCACTTCAGCTGCATCCTCAGGGTCAATCGGTATGACATTCAGTCGCAGAGCCTTCTGGGTCTCAGGATGGGCTCAGTAAATATTTACTGCTTTGAGCAAAAGCATGGGAGGAGTTGAGACTGCAAATCAAATTAAACTCAGTCCCTGCCTTTATGGAGCTGGAAATCTAATGGGAGACAGGCACATGAACAAGGAAGTACAGCTTTGAGTGAGCGGAGTAAACACAGGTGCTATGATGGCCATGGAAGGGGCCCCCAGCGCCATCTGATAGGTCCAGGGAGGCTGCCTGGAGAGTGGGATGCCTAGATTCCTAGAGGATGAGCAGGAGCTAGACAGGTCAGCAGAGGTGGGAGAGGGGAGACGATCCAGAGAGAGGAAAAACATTCGCAAAGGCAAGAGGCAAGAGAAAGTGTGTTTGTGTATGCACACTCGCATGTGTGTATGTATTTGTGTGTCTATGCCGTAN
|
pathogenic
| 21,199
|
Gene LAMB3 (laminin subunit beta 3) variant at chromosome position 209618591 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic
|
GGGCACCCTGCTCACCCAGCATGGAACTCTGACCCAACCGGTCCTTCAACTCAGCATACTTTTGTTTTATTCTCTCAAATCCCTGAAAAAGGTAGAATAGTCTCAGTGTCATTGTCATCATGCAAGGTCCTAAAGACCTGTGGCCAAAGCACTTGATATCACCCAAATCAATACACAGTGGGAAGGTGCCTCCTATTAGCCCCCAATAGCATTGGTTTTGCCTATTGAAACCCCTGAGCCACAGACTATGACTTAAACTTCTGTGTTTCCCTCTTCCCATCTCCAGCTCTTGACATGACCCACCTCACTCCCAGGACAATGTCAGTCACATCATAGGATATTAATAGTAGGCTGTCACTTAATAGCATACTTAGCAACTTGGTCACTGTGCCAGGATTGAAAGTGCCAATGTTCCTGGCCATAGCGGGAGCAGGTAGTGTGCTTGAGACACTGAGAATGGGCTCTTTGATCTTCTCTCTCATCTAATTCTGACAATCATGGAGCCCAGGTTAGGTTAAGCAAAGAGCATCTGTCCAGGCTGGGAATCCAAGAGACAAGCTCTGGATCCAGTGTCAGGGGACCTGCTTTGTAGATGATTCTTAGGCCTGTGAACGAGTCACCACCTCATCTGTAAAAGGAAAGGGACTGGACTAGGTCATCTCCAGTGTCCCTGAGCCAGCTATACCAAAAGCAGTGGAGGGAGAAATCAGATGCCTGGCCAGGTTTGGGTTGACTCTCAAGCCTCTTCTGGTTCTGTTATTCTAAGCACTTTTGAGTTTGTGGTCTTATAAAGTGTGCAAAGTCCTCCTCTGCTCAGGACCCCCTCACTGGCCGTACATCATTGAGCTAACTCCGCCTTCTCTGTACCTCTTGGGCACTCAATGCCTGCTCGCTGGCACCTTCCGCAAGCTGCTGGGCCTGGACTGCCTCTGCCCCCTGCTGCCGGGCTTGGTGGCGGAGCTCCTCCATCCGTGTCCAGAAGTCACCCAGCTGCTTGGTCATGCTTGTCACCAGCTTTTCTGCTGGCCGCAGTACCTGCTGAACCTTTGTGGAAAGAGGGAGATCTGGCCTTTGTGGTGGGTCTCATAGGTCGGGGGGTTCATCCCCATTTTTTCTCCAACTCATCAGGCAGCAAAAACCCTCTCCAACCAGAACAAACACAATTGCCCACCTCTCACCCCTCCTTCTGCATCCCAGCCACAAGACCAGAAAATCCAAGGCCCATAGCCTGCCCAAAGCTTGTCACTCTCCTCTAGAACTCCACCTCAGGTTTTATCTAGTCACTTTCTGGCATTTTCTATGCCTGGTGCCCAAATTTTCCTGTTTATGCCCAAATATGGGCGGAGGAAGCCATAATGCCTCACCTCAGCAACCCTGTCCTGGATAAGCCGAAGGGAGCGGCTGGTGCCTTGCATGGTGTCCTGAGCTTCCTGCAGTGCCACTGTCCCCTGCCGCAGGTTCCCAACCACATCTTCCACCTGGCCCTCCACTGCATGGGCTCGGCTCCTGGGTGAGAGAAGCAGCAGGGAGAGGAGAGAGAGAATGAGTGAACAGTGAATCAATGTGTGGTTCGACTCACACACCAGTCCAAAAGAACACCCTTCCCAGCCAAGGCAAAGAGCAAGGAAAGTATTAACTCAGTAGCTTTGATGTCCCAGGACCCCACCAAGCAGACGTGATGAATGTTCCCATTATGCCCAAGACACCTTCTGGGCGGTTTCCAATACGGAAGACACAGTCATGCAAATTAAGTTTAACCTGCACTCTGGACTCTGTGTACCACTCTCCACCATGGTAAGCACCCCCTCCTGTCTCCCAGCCCTCTGTACCCCTCTCCCAGCAACGGGGTTGAGGAGCAAAACGCCAGCTTAATCCTGGGCAGAGAGAAGTTCAGGGCCCAAGGCCATACCTGGCTTCCTCAGCCTCAGCCTGCAACCGGCGGGCACGCGCAATGTCCTGCTTGGTCTGGGACAGCACCAAGTCCACGTTGGGGAGCCTGGCTGCAATGGCCTGGATCTCATTCATCTTCTGCAGAACAGTAGCTGAGTCTGTGGGCAGCCACAGGGCCAGCACGGCCTCGCTGACCTCCTGGATAGTGGCTGCATCAGTGTCGGGGTCTGGAAGACAACACGCATTTGACTGTAGGAGCCCACTAACCTCCCCAGAGATACGAGGCCTCTCCTAGCTGAGCAGCACTTGTGGAAGGCACCCACAGTGGCCCCTCTACCGTGGTGTCCCAAGGAGCTGCTGCCCCCTTTCAACCAGACTCAGGCGCCTGTTCTCCAGGGATTTCTGGGAATGCTGTAGGAGGATGACTATCCTGTGCTCCATGCTGCAGCAGGGAGGAGGAGGGGTGTCGTCACAGCTGTGCCAACTAAGTGTCTGGTGCCACAGGAAGCTGCGGGCTGGGGAGAAGGAGGTGGTGCCAGACAGCTGGTACTGAACAATGCCTGCAGCACATGCACAATCAGCCCTAAATTGGGAAGAGTGGCCAGAAACTGGAGCTGCTTCCTTGGCAAAAAGACCCCTTCCCTGCATTCCCCCTCAGGCAAGATTGCTCATTTGTGCAAAGGCAAATAAGAATGATCAAGTCTCTGCTGGAATATCACCTTCTCAGGGAGGCCAACCCCAGCCATCCAATCTAGAATTGCAACCTCCACCCTGGACTGTAGCACACCTTATCGTCCCTCCCTGCCTTATCTTTCTGTCTAGCACTTGCACCACCCATGTGCCAAACACTGTACTCATTTAACTGGTTTGTTTGGTCTCTTTTCCTCTAGAATGTAAGCTCTACAAGGGCAGGGCCTGGGTTTTGTCCACAGCTATATCCCCAGACCCCAGCACAGTGCCTGGCACTTGGAGGTCCTCATGTGCGTAGAGTGAATGAATGATTGACAGGGCTTCAGGTTCAGATCTCTGCTTTACTATTCAAGCCACCTGGGCAAGTCAAGTGGTTCCTCTAAGCTCAGTTTCCTGATCGGTGAAAAAGGAATATCAATCCCCAATCTGAAGGTACAACATGAAACAATCCATTTGCAAGAGTTGTTACAAACCAACTCTGGGTCAGAGGGTAAGGTCAGAAGTACAGAGATGACATCTCCTCCCCATCTCTCCCAATTTGCTTTTACAGATTTCACTGGTATTGAGGTATTAAGGAGGGGGGCACCCACTCACCAGATGATTTGCCCTGGAATCTGAACTCCTCTGGGGCCCCAGGCCCAGTTTCACTCTACAACTAGAGGATACTAGCTGGTCACACAGGTCTCATTCCCTGCCCCATCCCATGCCAGGTGGAAGGACACTCCTGGAGGGTGGAAGCCATGCTTGTTCATTGCTGTGTCCCTCGGGGCTTGCATGCAGCATAACTGTGGTTGAGTTTCATTAAGTGGGTTTATCCCAGCAGCAAGCTTTCATAAGGACCTTCCTAATAGAGCTCGTCAACCTCTCTTCTAACCCAGAGTCCCACTCTCAAAACAAGGCTTCATGTGCACCTTCTCAAGAAAGCCTTCCAGGATGAGCACATCCCCACCTAGATCTTGCCCTTCCTTTACTCTGCACCACTTCAGCTGCATCCTCAGGGTCAATCGGTATGACATTCAGTCGCAGAGCCTTCTGGGTCTCAGGATGGGCTCAGTAAATATTTACTGCTTTGAGCAAAAGCATGGGAGGAGTTGAGACTGCAAATCAAATTAAACTCAGTCCCTGCCTTTATGGAGCTGGAAATCTAATGGGAGACAGGCACATGAACAAGGAAGTACAGCTTTGAGTGAGCGGAGTAAACACAGGTGCTATGATGGCCATGGAAGGGGCCCCCAGCGCCATCTGATAGGTCCAGGGAGGCTGCCTGGAGAGTGGGATGCCTAGATTCCTAGAGGATGAGCAGGAGCTAGACAGGTCAGCAGAGGTGGGAGAGGGGAGACGATCCAGAGAGAGGAAAAACATTCGCAAAGGCAAGAGGCAAGAGAAAGTGTGTTTGTGTATGCACACTCGCATGTGTGTATGTATTTGTGTGTCTATGCCGTAAAGCAATAGGGTGTGAATGACAGAGTCAGACAATTAGGCTTGAAGCCTACCTGCACCACTGCCAAGCTAGATG
|
GGGCACCCTGCTCACCCAGCATGGAACTCTGACCCAACCGGTCCTTCAACTCAGCATACTTTTGTTTTATTCTCTCAAATCCCTGAAAAAGGTAGAATAGTCTCAGTGTCATTGTCATCATGCAAGGTCCTAAAGACCTGTGGCCAAAGCACTTGATATCACCCAAATCAATACACAGTGGGAAGGTGCCTCCTATTAGCCCCCAATAGCATTGGTTTTGCCTATTGAAACCCCTGAGCCACAGACTATGACTTAAACTTCTGTGTTTCCCTCTTCCCATCTCCAGCTCTTGACATGACCCACCTCACTCCCAGGACAATGTCAGTCACATCATAGGATATTAATAGTAGGCTGTCACTTAATAGCATACTTAGCAACTTGGTCACTGTGCCAGGATTGAAAGTGCCAATGTTCCTGGCCATAGCGGGAGCAGGTAGTGTGCTTGAGACACTGAGAATGGGCTCTTTGATCTTCTCTCTCATCTAATTCTGACAATCATGGAGCCCAGGTTAGGTTAAGCAAAGAGCATCTGTCCAGGCTGGGAATCCAAGAGACAAGCTCTGGATCCAGTGTCAGGGGACCTGCTTTGTAGATGATTCTTAGGCCTGTGAACGAGTCACCACCTCATCTGTAAAAGGAAAGGGACTGGACTAGGTCATCTCCAGTGTCCCTGAGCCAGCTATACCAAAAGCAGTGGAGGGAGAAATCAGATGCCTGGCCAGGTTTGGGTTGACTCTCAAGCCTCTTCTGGTTCTGTTATTCTAAGCACTTTTGAGTTTGTGGTCTTATAAAGTGTGCAAAGTCCTCCTCTGCTCAGGACCCCCTCACTGGCCGTACATCATTGAGCTAACTCCGCCTTCTCTGTACCTCTTGGGCACTCAATGCCTGCTCGCTGGCACCTTCCGCAAGCTGCTGGGCCTGGACTGCCTCTGCCCCCTGCTGCCGGGCTTGGTGGCGGAGCTCCTCCATCCGTGTCCAGAAGTCACCCAGCTGCTTGGTCATGCTTGTCACCAGCTTTTCTGCTGGCCGCAGTACCTGCTGAACCTTTGTGGAAAGAGGGAGATCTGGCCTTTGTGGTGGGTCTCATAGGTCGGGGGGTTCATCCCCATTTTTTCTCCAACTCATCAGGCAGCAAAAACCCTCTCCAACCAGAACAAACACAATTGCCCACCTCTCACCCCTCCTTCTGCATCCCAGCCACAAGACCAGAAAATCCAAGGCCCATAGCCTGCCCAAAGCTTGTCACTCTCCTCTAGAACTCCACCTCAGGTTTTATCTAGTCACTTTCTGGCATTTTCTATGCCTGGTGCCCAAATTTTCCTGTTTATGCCCAAATATGGGCGGAGGAAGCCATAATGCCTCACCTCAGCAACCCTGTCCTGGATAAGCCGAAGGGAGCGGCTGGTGCCTTGCATGGTGTCCTGAGCTTCCTGCAGTGCCACTGTCCCCTGCCGCAGGTTCCCAACCACATCTTCCACCTGGCCCTCCACTGCATGGGCTCGGCTCCTGGGTGAGAGAAGCAGCAGGGAGAGGAGAGAGAGAATGAGTGAACAGTGAATCAATGTGTGGTTCGACTCACACACCAGTCCAAAAGAACACCCTTCCCAGCCAAGGCAAAGAGCAAGGAAAGTATTAACTCAGTAGCTTTGATGTCCCAGGACCCCACCAAGCAGACGTGATGAATGTTCCCATTATGCCCAAGACACCTTCTGGGCGGTTTCCAATACGGAAGACACAGTCATGCAAATTAAGTTTAACCTGCACTCTGGACTCTGTGTACCACTCTCCACCATGGTAAGCACCCCCTCCTGTCTCCCAGCCCTCTGTACCCCTCTCCCAGCAACGGGGTTGAGGAGCAAAACGCCAGCTTAATCCTGGGCAGAGAGAAGTTCAGGGCCCAAGGCCATACCTGGCTTCCTCAGCCTCAGCCTGCAACCGGCGGGCACGCGCAATGTCCTGCTTGGTCTGGGACAGCACCAAGTCCACGTTGGGGAGCCTGGCTGCAATGGCCTGGATCTCATTCATCTTCTGCAGAACAGTAGCTGAGTCTGGGCAGCCACAGGGCCAGCACGGCCTCGCTGACCTCCTGGATAGTGGCTGCATCAGTGTCGGGGTCTGGAAGACAACACGCATTTGACTGTAGGAGCCCACTAACCTCCCCAGAGATACGAGGCCTCTCCTAGCTGAGCAGCACTTGTGGAAGGCACCCACAGTGGCCCCTCTACCGTGGTGTCCCAAGGAGCTGCTGCCCCCTTTCAACCAGACTCAGGCGCCTGTTCTCCAGGGATTTCTGGGAATGCTGTAGGAGGATGACTATCCTGTGCTCCATGCTGCAGCAGGGAGGAGGAGGGGTGTCGTCACAGCTGTGCCAACTAAGTGTCTGGTGCCACAGGAAGCTGCGGGCTGGGGAGAAGGAGGTGGTGCCAGACAGCTGGTACTGAACAATGCCTGCAGCACATGCACAATCAGCCCTAAATTGGGAAGAGTGGCCAGAAACTGGAGCTGCTTCCTTGGCAAAAAGACCCCTTCCCTGCATTCCCCCTCAGGCAAGATTGCTCATTTGTGCAAAGGCAAATAAGAATGATCAAGTCTCTGCTGGAATATCACCTTCTCAGGGAGGCCAACCCCAGCCATCCAATCTAGAATTGCAACCTCCACCCTGGACTGTAGCACACCTTATCGTCCCTCCCTGCCTTATCTTTCTGTCTAGCACTTGCACCACCCATGTGCCAAACACTGTACTCATTTAACTGGTTTGTTTGGTCTCTTTTCCTCTAGAATGTAAGCTCTACAAGGGCAGGGCCTGGGTTTTGTCCACAGCTATATCCCCAGACCCCAGCACAGTGCCTGGCACTTGGAGGTCCTCATGTGCGTAGAGTGAATGAATGATTGACAGGGCTTCAGGTTCAGATCTCTGCTTTACTATTCAAGCCACCTGGGCAAGTCAAGTGGTTCCTCTAAGCTCAGTTTCCTGATCGGTGAAAAAGGAATATCAATCCCCAATCTGAAGGTACAACATGAAACAATCCATTTGCAAGAGTTGTTACAAACCAACTCTGGGTCAGAGGGTAAGGTCAGAAGTACAGAGATGACATCTCCTCCCCATCTCTCCCAATTTGCTTTTACAGATTTCACTGGTATTGAGGTATTAAGGAGGGGGGCACCCACTCACCAGATGATTTGCCCTGGAATCTGAACTCCTCTGGGGCCCCAGGCCCAGTTTCACTCTACAACTAGAGGATACTAGCTGGTCACACAGGTCTCATTCCCTGCCCCATCCCATGCCAGGTGGAAGGACACTCCTGGAGGGTGGAAGCCATGCTTGTTCATTGCTGTGTCCCTCGGGGCTTGCATGCAGCATAACTGTGGTTGAGTTTCATTAAGTGGGTTTATCCCAGCAGCAAGCTTTCATAAGGACCTTCCTAATAGAGCTCGTCAACCTCTCTTCTAACCCAGAGTCCCACTCTCAAAACAAGGCTTCATGTGCACCTTCTCAAGAAAGCCTTCCAGGATGAGCACATCCCCACCTAGATCTTGCCCTTCCTTTACTCTGCACCACTTCAGCTGCATCCTCAGGGTCAATCGGTATGACATTCAGTCGCAGAGCCTTCTGGGTCTCAGGATGGGCTCAGTAAATATTTACTGCTTTGAGCAAAAGCATGGGAGGAGTTGAGACTGCAAATCAAATTAAACTCAGTCCCTGCCTTTATGGAGCTGGAAATCTAATGGGAGACAGGCACATGAACAAGGAAGTACAGCTTTGAGTGAGCGGAGTAAACACAGGTGCTATGATGGCCATGGAAGGGGCCCCCAGCGCCATCTGATAGGTCCAGGGAGGCTGCCTGGAGAGTGGGATGCCTAGATTCCTAGAGGATGAGCAGGAGCTAGACAGGTCAGCAGAGGTGGGAGAGGGGAGACGATCCAGAGAGAGGAAAAACATTCGCAAAGGCAAGAGGCAAGAGAAAGTGTGTTTGTGTATGCACACTCGCATGTGTGTATGTATTTGTGTGTCTATGCCGTAAAGCAATAGGGTGTGAATGACAGAGTCAGACAATTAGGCTTGAAGCCTACCTGCACCACTGCCAAGCTAGATGNN
|
pathogenic
| 21,201
|
For chromosome 1, position 209618670, gene LAMB3 (laminin subunit beta 3): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
benign
|
TCCCTGAAAAAGGTAGAATAGTCTCAGTGTCATTGTCATCATGCAAGGTCCTAAAGACCTGTGGCCAAAGCACTTGATATCACCCAAATCAATACACAGTGGGAAGGTGCCTCCTATTAGCCCCCAATAGCATTGGTTTTGCCTATTGAAACCCCTGAGCCACAGACTATGACTTAAACTTCTGTGTTTCCCTCTTCCCATCTCCAGCTCTTGACATGACCCACCTCACTCCCAGGACAATGTCAGTCACATCATAGGATATTAATAGTAGGCTGTCACTTAATAGCATACTTAGCAACTTGGTCACTGTGCCAGGATTGAAAGTGCCAATGTTCCTGGCCATAGCGGGAGCAGGTAGTGTGCTTGAGACACTGAGAATGGGCTCTTTGATCTTCTCTCTCATCTAATTCTGACAATCATGGAGCCCAGGTTAGGTTAAGCAAAGAGCATCTGTCCAGGCTGGGAATCCAAGAGACAAGCTCTGGATCCAGTGTCAGGGGACCTGCTTTGTAGATGATTCTTAGGCCTGTGAACGAGTCACCACCTCATCTGTAAAAGGAAAGGGACTGGACTAGGTCATCTCCAGTGTCCCTGAGCCAGCTATACCAAAAGCAGTGGAGGGAGAAATCAGATGCCTGGCCAGGTTTGGGTTGACTCTCAAGCCTCTTCTGGTTCTGTTATTCTAAGCACTTTTGAGTTTGTGGTCTTATAAAGTGTGCAAAGTCCTCCTCTGCTCAGGACCCCCTCACTGGCCGTACATCATTGAGCTAACTCCGCCTTCTCTGTACCTCTTGGGCACTCAATGCCTGCTCGCTGGCACCTTCCGCAAGCTGCTGGGCCTGGACTGCCTCTGCCCCCTGCTGCCGGGCTTGGTGGCGGAGCTCCTCCATCCGTGTCCAGAAGTCACCCAGCTGCTTGGTCATGCTTGTCACCAGCTTTTCTGCTGGCCGCAGTACCTGCTGAACCTTTGTGGAAAGAGGGAGATCTGGCCTTTGTGGTGGGTCTCATAGGTCGGGGGGTTCATCCCCATTTTTTCTCCAACTCATCAGGCAGCAAAAACCCTCTCCAACCAGAACAAACACAATTGCCCACCTCTCACCCCTCCTTCTGCATCCCAGCCACAAGACCAGAAAATCCAAGGCCCATAGCCTGCCCAAAGCTTGTCACTCTCCTCTAGAACTCCACCTCAGGTTTTATCTAGTCACTTTCTGGCATTTTCTATGCCTGGTGCCCAAATTTTCCTGTTTATGCCCAAATATGGGCGGAGGAAGCCATAATGCCTCACCTCAGCAACCCTGTCCTGGATAAGCCGAAGGGAGCGGCTGGTGCCTTGCATGGTGTCCTGAGCTTCCTGCAGTGCCACTGTCCCCTGCCGCAGGTTCCCAACCACATCTTCCACCTGGCCCTCCACTGCATGGGCTCGGCTCCTGGGTGAGAGAAGCAGCAGGGAGAGGAGAGAGAGAATGAGTGAACAGTGAATCAATGTGTGGTTCGACTCACACACCAGTCCAAAAGAACACCCTTCCCAGCCAAGGCAAAGAGCAAGGAAAGTATTAACTCAGTAGCTTTGATGTCCCAGGACCCCACCAAGCAGACGTGATGAATGTTCCCATTATGCCCAAGACACCTTCTGGGCGGTTTCCAATACGGAAGACACAGTCATGCAAATTAAGTTTAACCTGCACTCTGGACTCTGTGTACCACTCTCCACCATGGTAAGCACCCCCTCCTGTCTCCCAGCCCTCTGTACCCCTCTCCCAGCAACGGGGTTGAGGAGCAAAACGCCAGCTTAATCCTGGGCAGAGAGAAGTTCAGGGCCCAAGGCCATACCTGGCTTCCTCAGCCTCAGCCTGCAACCGGCGGGCACGCGCAATGTCCTGCTTGGTCTGGGACAGCACCAAGTCCACGTTGGGGAGCCTGGCTGCAATGGCCTGGATCTCATTCATCTTCTGCAGAACAGTAGCTGAGTCTGTGGGCAGCCACAGGGCCAGCACGGCCTCGCTGACCTCCTGGATAGTGGCTGCATCAGTGTCGGGGTCTGGAAGACAACACGCATTTGACTGTAGGAGCCCACTAACCTCCCCAGAGATACGAGGCCTCTCCTAGCTGAGCAGCACTTGTGGAAGGCACCCACAGTGGCCCCTCTACCGTGGTGTCCCAAGGAGCTGCTGCCCCCTTTCAACCAGACTCAGGCGCCTGTTCTCCAGGGATTTCTGGGAATGCTGTAGGAGGATGACTATCCTGTGCTCCATGCTGCAGCAGGGAGGAGGAGGGGTGTCGTCACAGCTGTGCCAACTAAGTGTCTGGTGCCACAGGAAGCTGCGGGCTGGGGAGAAGGAGGTGGTGCCAGACAGCTGGTACTGAACAATGCCTGCAGCACATGCACAATCAGCCCTAAATTGGGAAGAGTGGCCAGAAACTGGAGCTGCTTCCTTGGCAAAAAGACCCCTTCCCTGCATTCCCCCTCAGGCAAGATTGCTCATTTGTGCAAAGGCAAATAAGAATGATCAAGTCTCTGCTGGAATATCACCTTCTCAGGGAGGCCAACCCCAGCCATCCAATCTAGAATTGCAACCTCCACCCTGGACTGTAGCACACCTTATCGTCCCTCCCTGCCTTATCTTTCTGTCTAGCACTTGCACCACCCATGTGCCAAACACTGTACTCATTTAACTGGTTTGTTTGGTCTCTTTTCCTCTAGAATGTAAGCTCTACAAGGGCAGGGCCTGGGTTTTGTCCACAGCTATATCCCCAGACCCCAGCACAGTGCCTGGCACTTGGAGGTCCTCATGTGCGTAGAGTGAATGAATGATTGACAGGGCTTCAGGTTCAGATCTCTGCTTTACTATTCAAGCCACCTGGGCAAGTCAAGTGGTTCCTCTAAGCTCAGTTTCCTGATCGGTGAAAAAGGAATATCAATCCCCAATCTGAAGGTACAACATGAAACAATCCATTTGCAAGAGTTGTTACAAACCAACTCTGGGTCAGAGGGTAAGGTCAGAAGTACAGAGATGACATCTCCTCCCCATCTCTCCCAATTTGCTTTTACAGATTTCACTGGTATTGAGGTATTAAGGAGGGGGGCACCCACTCACCAGATGATTTGCCCTGGAATCTGAACTCCTCTGGGGCCCCAGGCCCAGTTTCACTCTACAACTAGAGGATACTAGCTGGTCACACAGGTCTCATTCCCTGCCCCATCCCATGCCAGGTGGAAGGACACTCCTGGAGGGTGGAAGCCATGCTTGTTCATTGCTGTGTCCCTCGGGGCTTGCATGCAGCATAACTGTGGTTGAGTTTCATTAAGTGGGTTTATCCCAGCAGCAAGCTTTCATAAGGACCTTCCTAATAGAGCTCGTCAACCTCTCTTCTAACCCAGAGTCCCACTCTCAAAACAAGGCTTCATGTGCACCTTCTCAAGAAAGCCTTCCAGGATGAGCACATCCCCACCTAGATCTTGCCCTTCCTTTACTCTGCACCACTTCAGCTGCATCCTCAGGGTCAATCGGTATGACATTCAGTCGCAGAGCCTTCTGGGTCTCAGGATGGGCTCAGTAAATATTTACTGCTTTGAGCAAAAGCATGGGAGGAGTTGAGACTGCAAATCAAATTAAACTCAGTCCCTGCCTTTATGGAGCTGGAAATCTAATGGGAGACAGGCACATGAACAAGGAAGTACAGCTTTGAGTGAGCGGAGTAAACACAGGTGCTATGATGGCCATGGAAGGGGCCCCCAGCGCCATCTGATAGGTCCAGGGAGGCTGCCTGGAGAGTGGGATGCCTAGATTCCTAGAGGATGAGCAGGAGCTAGACAGGTCAGCAGAGGTGGGAGAGGGGAGACGATCCAGAGAGAGGAAAAACATTCGCAAAGGCAAGAGGCAAGAGAAAGTGTGTTTGTGTATGCACACTCGCATGTGTGTATGTATTTGTGTGTCTATGCCGTAAAGCAATAGGGTGTGAATGACAGAGTCAGACAATTAGGCTTGAAGCCTACCTGCACCACTGCCAAGCTAGATGCCTTTAGGCAAGTTGCTTAACCTCTCTGTGCCTAGATTACTTGTGTGCAAAGTGGAAGTAATAAGAGTACTTAGTTCAT
|
TCCCTGAAAAAGGTAGAATAGTCTCAGTGTCATTGTCATCATGCAAGGTCCTAAAGACCTGTGGCCAAAGCACTTGATATCACCCAAATCAATACACAGTGGGAAGGTGCCTCCTATTAGCCCCCAATAGCATTGGTTTTGCCTATTGAAACCCCTGAGCCACAGACTATGACTTAAACTTCTGTGTTTCCCTCTTCCCATCTCCAGCTCTTGACATGACCCACCTCACTCCCAGGACAATGTCAGTCACATCATAGGATATTAATAGTAGGCTGTCACTTAATAGCATACTTAGCAACTTGGTCACTGTGCCAGGATTGAAAGTGCCAATGTTCCTGGCCATAGCGGGAGCAGGTAGTGTGCTTGAGACACTGAGAATGGGCTCTTTGATCTTCTCTCTCATCTAATTCTGACAATCATGGAGCCCAGGTTAGGTTAAGCAAAGAGCATCTGTCCAGGCTGGGAATCCAAGAGACAAGCTCTGGATCCAGTGTCAGGGGACCTGCTTTGTAGATGATTCTTAGGCCTGTGAACGAGTCACCACCTCATCTGTAAAAGGAAAGGGACTGGACTAGGTCATCTCCAGTGTCCCTGAGCCAGCTATACCAAAAGCAGTGGAGGGAGAAATCAGATGCCTGGCCAGGTTTGGGTTGACTCTCAAGCCTCTTCTGGTTCTGTTATTCTAAGCACTTTTGAGTTTGTGGTCTTATAAAGTGTGCAAAGTCCTCCTCTGCTCAGGACCCCCTCACTGGCCGTACATCATTGAGCTAACTCCGCCTTCTCTGTACCTCTTGGGCACTCAATGCCTGCTCGCTGGCACCTTCCGCAAGCTGCTGGGCCTGGACTGCCTCTGCCCCCTGCTGCCGGGCTTGGTGGCGGAGCTCCTCCATCCGTGTCCAGAAGTCACCCAGCTGCTTGGTCATGCTTGTCACCAGCTTTTCTGCTGGCCGCAGTACCTGCTGAACCTTTGTGGAAAGAGGGAGATCTGGCCTTTGTGGTGGGTCTCATAGGTCGGGGGGTTCATCCCCATTTTTTCTCCAACTCATCAGGCAGCAAAAACCCTCTCCAACCAGAACAAACACAATTGCCCACCTCTCACCCCTCCTTCTGCATCCCAGCCACAAGACCAGAAAATCCAAGGCCCATAGCCTGCCCAAAGCTTGTCACTCTCCTCTAGAACTCCACCTCAGGTTTTATCTAGTCACTTTCTGGCATTTTCTATGCCTGGTGCCCAAATTTTCCTGTTTATGCCCAAATATGGGCGGAGGAAGCCATAATGCCTCACCTCAGCAACCCTGTCCTGGATAAGCCGAAGGGAGCGGCTGGTGCCTTGCATGGTGTCCTGAGCTTCCTGCAGTGCCACTGTCCCCTGCCGCAGGTTCCCAACCACATCTTCCACCTGGCCCTCCACTGCATGGGCTCGGCTCCTGGGTGAGAGAAGCAGCAGGGAGAGGAGAGAGAGAATGAGTGAACAGTGAATCAATGTGTGGTTCGACTCACACACCAGTCCAAAAGAACACCCTTCCCAGCCAAGGCAAAGAGCAAGGAAAGTATTAACTCAGTAGCTTTGATGTCCCAGGACCCCACCAAGCAGACGTGATGAATGTTCCCATTATGCCCAAGACACCTTCTGGGCGGTTTCCAATACGGAAGACACAGTCATGCAAATTAAGTTTAACCTGCACTCTGGACTCTGTGTACCACTCTCCACCATGGTAAGCACCCCCTCCTGTCTCCCAGCCCTCTGTACCCCTCTCCCAGCAACGGGGTTGAGGAGCAAAACGCCAGCTTAATCCTGGGCAGAGAGAAGTTCAGGGCCCAAGGCCATACCTGGCTTCCTCAGCCTCAGCCTGCAACCGGCGGGCACGCGCAATGTCCTGCTTGGTCTGGGACAGCACCAAGTCCACGTTGGGGAGCCTGGCTGCAATGGCCTGGATCTCATTCATCTTCTGCAGAACAGTAGCTGAGTCTGTGGGCAGCCACAGGGCCAGCACGGCCTCGCTGACCTCCTGGATAGTGGCTGCATCAGTGTCGGGGTCTGGAAGACAACCACGCATTTGACTGTAGGAGCCCACTAACCTCCCCAGAGATACGAGGCCTCTCCTAGCTGAGCAGCACTTGTGGAAGGCACCCACAGTGGCCCCTCTACCGTGGTGTCCCAAGGAGCTGCTGCCCCCTTTCAACCAGACTCAGGCGCCTGTTCTCCAGGGATTTCTGGGAATGCTGTAGGAGGATGACTATCCTGTGCTCCATGCTGCAGCAGGGAGGAGGAGGGGTGTCGTCACAGCTGTGCCAACTAAGTGTCTGGTGCCACAGGAAGCTGCGGGCTGGGGAGAAGGAGGTGGTGCCAGACAGCTGGTACTGAACAATGCCTGCAGCACATGCACAATCAGCCCTAAATTGGGAAGAGTGGCCAGAAACTGGAGCTGCTTCCTTGGCAAAAAGACCCCTTCCCTGCATTCCCCCTCAGGCAAGATTGCTCATTTGTGCAAAGGCAAATAAGAATGATCAAGTCTCTGCTGGAATATCACCTTCTCAGGGAGGCCAACCCCAGCCATCCAATCTAGAATTGCAACCTCCACCCTGGACTGTAGCACACCTTATCGTCCCTCCCTGCCTTATCTTTCTGTCTAGCACTTGCACCACCCATGTGCCAAACACTGTACTCATTTAACTGGTTTGTTTGGTCTCTTTTCCTCTAGAATGTAAGCTCTACAAGGGCAGGGCCTGGGTTTTGTCCACAGCTATATCCCCAGACCCCAGCACAGTGCCTGGCACTTGGAGGTCCTCATGTGCGTAGAGTGAATGAATGATTGACAGGGCTTCAGGTTCAGATCTCTGCTTTACTATTCAAGCCACCTGGGCAAGTCAAGTGGTTCCTCTAAGCTCAGTTTCCTGATCGGTGAAAAAGGAATATCAATCCCCAATCTGAAGGTACAACATGAAACAATCCATTTGCAAGAGTTGTTACAAACCAACTCTGGGTCAGAGGGTAAGGTCAGAAGTACAGAGATGACATCTCCTCCCCATCTCTCCCAATTTGCTTTTACAGATTTCACTGGTATTGAGGTATTAAGGAGGGGGGCACCCACTCACCAGATGATTTGCCCTGGAATCTGAACTCCTCTGGGGCCCCAGGCCCAGTTTCACTCTACAACTAGAGGATACTAGCTGGTCACACAGGTCTCATTCCCTGCCCCATCCCATGCCAGGTGGAAGGACACTCCTGGAGGGTGGAAGCCATGCTTGTTCATTGCTGTGTCCCTCGGGGCTTGCATGCAGCATAACTGTGGTTGAGTTTCATTAAGTGGGTTTATCCCAGCAGCAAGCTTTCATAAGGACCTTCCTAATAGAGCTCGTCAACCTCTCTTCTAACCCAGAGTCCCACTCTCAAAACAAGGCTTCATGTGCACCTTCTCAAGAAAGCCTTCCAGGATGAGCACATCCCCACCTAGATCTTGCCCTTCCTTTACTCTGCACCACTTCAGCTGCATCCTCAGGGTCAATCGGTATGACATTCAGTCGCAGAGCCTTCTGGGTCTCAGGATGGGCTCAGTAAATATTTACTGCTTTGAGCAAAAGCATGGGAGGAGTTGAGACTGCAAATCAAATTAAACTCAGTCCCTGCCTTTATGGAGCTGGAAATCTAATGGGAGACAGGCACATGAACAAGGAAGTACAGCTTTGAGTGAGCGGAGTAAACACAGGTGCTATGATGGCCATGGAAGGGGCCCCCAGCGCCATCTGATAGGTCCAGGGAGGCTGCCTGGAGAGTGGGATGCCTAGATTCCTAGAGGATGAGCAGGAGCTAGACAGGTCAGCAGAGGTGGGAGAGGGGAGACGATCCAGAGAGAGGAAAAACATTCGCAAAGGCAAGAGGCAAGAGAAAGTGTGTTTGTGTATGCACACTCGCATGTGTGTATGTATTTGTGTGTCTATGCCGTAAAGCAATAGGGTGTGAATGACAGAGTCAGACAATTAGGCTTGAAGCCTACCTGCACCACTGCCAAGCTAGATGCCTTTAGGCAAGTTGCTTAACCTCTCTGTGCCTAGATTACTTGTGTGCAAAGTGGAAGTAATAAGAGTACTTAGTTCA
|
benign
| 21,203
|
Variant in gene LAMB3 (laminin subunit beta 3), located at chromosome 1 position 209622533: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Junctional_epidermolysis_bullosa']
|
TCGCAAAGGCAAGAGGCAAGAGAAAGTGTGTTTGTGTATGCACACTCGCATGTGTGTATGTATTTGTGTGTCTATGCCGTAAAGCAATAGGGTGTGAATGACAGAGTCAGACAATTAGGCTTGAAGCCTACCTGCACCACTGCCAAGCTAGATGCCTTTAGGCAAGTTGCTTAACCTCTCTGTGCCTAGATTACTTGTGTGCAAAGTGGAAGTAATAAGAGTACTTAGTTCATGTAGTCAGGAATAAATGATGTAATACATGCAAAGCACTTGGAACAGTGCCTGGACTCAGTTAGAACTTAATAAGCCTTAACTATTCATTTTGTCAATTCCATTTGAAGAACTGGGAAAGGCGATGTTTCCTCCTCCCTCCACAGACTTTCCACTCTCCCTCCCACACTGTGACCCTATATCGGACAGCAGCCAGCGCTCAGTGGCTTCTGCACCAGGACTCTGGAGACCAGAGTCCAAGCCCACCGCTACAGAAAATTTTCCTGGGTTTCCCCCTGGGGCCAGGCCTCTCTCAGGCCCTGCTTTTTCTCTCTGACCCTGGACTCATCATAAGACTTGACCTGAGATACAAGTATAAGAGAGAGGACAAAAGGGGCCTGGCAGCTCCCTGTCTGTTCACATGAGCCTCAGCTGCACCCGGCAGGAGAGAATTCCAACTCACCTCCCACCCACTGAGGCCAGAGCCCTGGCTGAGATTAATGCAGGATGAGTGGCCATTCAGCCTCACTGGACTTGACTCAGGGGCAAGAATCCCTTATCCATGAGCCTAAGCCCCACACCTTGACCTCCCCCATCATCCACGTTTGTGGGGCACAATCTCCCTACATCCCCAGGTAATATTTTCCCCAGGTGAGTGCCTCAAGGCCTTATGCAAGTCATGAGACCTCAGAAGAACTTTCCTGCCCCTCTCTGACCTGCCACCTGCACTCAGGAGGGGACTTCGGCCTATCTGGGGCAAAAACACTGTAATAGTAGCAAGAGGAGCCACTGTCATTACACCAAGCCCTGGGCTCGTATTAACTGGGCTCCCAGCCAAGCAAATAACCTGGCAGGAACCAGAAATCTAACAATATCAACTCTTGTTCCTGAGGCACTTTTCCTTTTTCAAAACACATTTTACATCAGTTATTTGATCCTCAGAATAAACTTGTGAAATACTACCGTCCCCATTTATAGAAGCAAAAGATGAGGCAAAGAGAAAAGCAGCCTGCCCAATGTCACACGAGTCTCCCGGGTCCTGTTTAGGGATCTTTCCATTGTACAGCCCTTCCTCACTCCCCAGAGCAGTGAGGAAGGGTGTCTGGTTCATTTATTCATGCCACCAATGTCAGATGTCTTTCTGTGTCTGGCCTTATGTTAGGTGCTGGTGACACAGTAGTCAACAAGACAGACAACCATCCTTGCCCTCCTGGAGTCCCCATTCTAGTGGAGTGACAATCCACTTGTTGACAACTGAATGAGGGTGAGTAGTGCAAGGAAAGTAAGATGATGGGGGACAAACAGATCGGATGGTCAGGAAACACCTCTCTGGGGAGATGACCCAGAGGACAAGAAGCAGCAGCCCTGGAAAGAGGACTTCAGGCAGACAAAGAGCAAATAAACATCCCTGAAGCAGGCAAGAGCCTGACATGTTCAAGGACAGCCAGTGAACAAAGCAGAGAAGAGCCCAAGGTCACTCCCAAGAGATGGACAGAGGCCAGGCTCTGTAGCCACGATGGGAGTTGAGAGCTCATTCCAAGAACAAGGTGAAGCCACTGAAGGATTTTAAGCAGGAGTGAGATGTGATCTGACTTATGCATTTTAAAAGAGATATTTCAGCTGTTGTGTTGAGAATGAGAATGGGTCACAAGGGATTGGAGTGGGTGGGGAGGGCAGACGGGAGAACGAGAAGGTCATGGCCATGGTGCCAAGGAGAAGTGGAGGCCTGGATGTTGCAGGCCTGGGACTAGGGAGGGAGGGCTGGCTGATGCACTGAACATGGGAATGCGGGACAGGCAGGACTGGAACAGCAGCCAAGGTGGGGTGGAGACTGGGCTCACCTGTTAGGAAGTCCCGGACCTGCTGGATTAGGAGCCGTGTGCGTCTGACATCTTCCTCCATCTGGGAGCGGCTGGCGCTCACCTGGGTCTCCAAGCGCTGGGCACTGGATTGAATCTGTGAGGCAGATTCCTCGGCTGCCCTAATCTGTTGACATACACTCTAGGTCAGAAGGGGTAAGGCCCCAAGGGAACCTCTCAGCAGCCCCACGATTCTGCGGATCATCCTCTATGCCAAGACCTACCTAGGAAGCATTTGTAACCAACCCAGCTTACATGTGGATGTTCAGTAAAAGAGAAAAAAAACTATCTTGCACTTGCTGTGGCACCTTAAGCAGGTCACCTAAAATCTCTGGACTTTAGTGTAAAATGGGAACTCTGACTTGCCCGGGGGATCTATCCTGTCTGCCTCCTCCTACCTGTGCCCACCCCGCCTCGGCTGCACTTACCATCTGCCTGGTCCGCTGGAGCTGGGCATTGAAGCCCCGCAGCTGCTCAGCCACCTGCCCCGCCATCAAGAAGGCCCCACCGGCCCTGGGAAGGACACCCCTGCAGCGGGAGCCACAGGCTGTGCCATTGTCTTGGGGACATAGCTCACCAGGGCATGATATTGGGGTGCAAGCCATCTGCCTGGAGTTGCCACAGAGCTGTGGACAGATGGCGGTGTTAAAGAGGCTACCCAAAGCCCCTCAATAACCAATCCCACCCCACACCTGGGAAACCAACAGCCAGACATCTCCATGACAACCAAGCACCAGAAACAGCCAGACATCTCCATGAGAGCTAAGGACCAGAAACTGGTTTCCTTGGCAACCACTGAGCTCACAGTGAGCAGTACAAGGGTCGGGATGGCTGGGGGAGTGGGGTTCTCACAGGGGCAGATCTGCCCTAATAGGAAGCAGGTGGCAGCAGTTGGTGTGTGACAAGCTGGGGTGTGGGCTCCAGGAAGTGGGACTCCATGCCCCAAGTCACCTTGTTGAAGGTGGGTGTCAGGTCAGGCAACGAAGACATCTCCAGCCTCAGGGCCACAAGCTTGGGGCTGCCGGTGCCTCCTCCTCCTCCCGCCTGCCGCACCAGCCTCTCTGCCTCTCTCCGGCTGTCCCTGAGCTGGTCCAAAAGGCGCGAGCTGTCGGAGACCTGCTGAGCAGCCTGGGCTGACTGCTCGTAGGCTGTGCTCAGCATCCGGAAGGCTCCTGTGGCGAGAAGCATGAGGAATGGAGATGGAGGAGGAGCAGGAGGGAGAGGGGGTGGCATGCCCACCACGGCAGTGCCCATGCCCGGGGTTATCCGGGTGCCCCTCTCCTCACCTGAAGGATCAGCACTGCTTATTTTTTCAAACTGCTCCCTCTTCCTCTGATACATAGTAAGGAGACCATTGAAGCTTCTGTCAAGACTCTCCAGGTCTCTCGGAAGGGACAACGTCTCCTCCTCCAGGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCAGAGCAACTGCTACTGAGTCAGAACAAACAGAGACCTTGGGCAAAGGCAACAGAACAGAGAATCCACAGGCTAAGGGGGTTCCGCTGGACAGAGGCTTGGCGACCAGCACAATCTTTCTCTGTCCAGGTGCAGATGGAGCCACAAAACTCTCCTCCCTTGACTTCTATGACCCAACATTCCCAATTCTCCTCCCCCTCTTCCAGATCCTGGCTTCCATGAGGAGCAATGCCCTGATGCCCTCCTCCTTCGCTCTCTATGGGCTGGCTTCAGCTACCATCTGTACAGCTGCAGCTCCAAAATCTCTTCCACAGTCCACACCTCCCACTCAGCTCCAGATCCCATCACTGCTGCCAGCTGGTCATCCCCCCGAAGGAGGCTCAGAGTCTACCTCCCAGGCCCTTGGCCACTGAGCTCTTGGAGAGTCCTCTCTCCCTGTGCCCTTTGCAGCTCCACCAACCCAACCACCAGCTCCCTCCTCCAAGCCTCACATTCTCCACCTCCAGGCTTTG
|
TCGCAAAGGCAAGAGGCAAGAGAAAGTGTGTTTGTGTATGCACACTCGCATGTGTGTATGTATTTGTGTGTCTATGCCGTAAAGCAATAGGGTGTGAATGACAGAGTCAGACAATTAGGCTTGAAGCCTACCTGCACCACTGCCAAGCTAGATGCCTTTAGGCAAGTTGCTTAACCTCTCTGTGCCTAGATTACTTGTGTGCAAAGTGGAAGTAATAAGAGTACTTAGTTCATGTAGTCAGGAATAAATGATGTAATACATGCAAAGCACTTGGAACAGTGCCTGGACTCAGTTAGAACTTAATAAGCCTTAACTATTCATTTTGTCAATTCCATTTGAAGAACTGGGAAAGGCGATGTTTCCTCCTCCCTCCACAGACTTTCCACTCTCCCTCCCACACTGTGACCCTATATCGGACAGCAGCCAGCGCTCAGTGGCTTCTGCACCAGGACTCTGGAGACCAGAGTCCAAGCCCACCGCTACAGAAAATTTTCCTGGGTTTCCCCCTGGGGCCAGGCCTCTCTCAGGCCCTGCTTTTTCTCTCTGACCCTGGACTCATCATAAGACTTGACCTGAGATACAAGTATAAGAGAGAGGACAAAAGGGGCCTGGCAGCTCCCTGTCTGTTCACATGAGCCTCAGCTGCACCCGGCAGGAGAGAATTCCAACTCACCTCCCACCCACTGAGGCCAGAGCCCTGGCTGAGATTAATGCAGGATGAGTGGCCATTCAGCCTCACTGGACTTGACTCAGGGGCAAGAATCCCTTATCCATGAGCCTAAGCCCCACACCTTGACCTCCCCCATCATCCACGTTTGTGGGGCACAATCTCCCTACATCCCCAGGTAATATTTTCCCCAGGTGAGTGCCTCAAGGCCTTATGCAAGTCATGAGACCTCAGAAGAACTTTCCTGCCCCTCTCTGACCTGCCACCTGCACTCAGGAGGGGACTTCGGCCTATCTGGGGCAAAAACACTGTAATAGTAGCAAGAGGAGCCACTGTCATTACACCAAGCCCTGGGCTCGTATTAACTGGGCTCCCAGCCAAGCAAATAACCTGGCAGGAACCAGAAATCTAACAATATCAACTCTTGTTCCTGAGGCACTTTTCCTTTTTCAAAACACATTTTACATCAGTTATTTGATCCTCAGAATAAACTTGTGAAATACTACCGTCCCCATTTATAGAAGCAAAAGATGAGGCAAAGAGAAAAGCAGCCTGCCCAATGTCACACGAGTCTCCCGGGTCCTGTTTAGGGATCTTTCCATTGTACAGCCCTTCCTCACTCCCCAGAGCAGTGAGGAAGGGTGTCTGGTTCATTTATTCATGCCACCAATGTCAGATGTCTTTCTGTGTCTGGCCTTATGTTAGGTGCTGGTGACACAGTAGTCAACAAGACAGACAACCATCCTTGCCCTCCTGGAGTCCCCATTCTAGTGGAGTGACAATCCACTTGTTGACAACTGAATGAGGGTGAGTAGTGCAAGGAAAGTAAGATGATGGGGGACAAACAGATCGGATGGTCAGGAAACACCTCTCTGGGGAGATGACCCAGAGGACAAGAAGCAGCAGCCCTGGAAAGAGGACTTCAGGCAGACAAAGAGCAAATAAACATCCCTGAAGCAGGCAAGAGCCTGACATGTTCAAGGACAGCCAGTGAACAAAGCAGAGAAGAGCCCAAGGTCACTCCCAAGAGATGGACAGAGGCCAGGCTCTGTAGCCACGATGGGAGTTGAGAGCTCATTCCAAGAACAAGGTGAAGCCACTGAAGGATTTTAAGCAGGAGTGAGATGTGATCTGACTTATGCATTTTAAAAGAGATATTTCAGCTGTTGTGTTGAGAATGAGAATGGGTCACAAGGGATTGGAGTGGGTGGGGAGGGCAGACGGGAGAACGAGAAGGTCATGGCCATGGTGCCAAGGAGAAGTGGAGGCCTGGATGTTGCAGGCCTGGGACTAGGGAGGGAGGGCTGGCTGATGCACTGAACATGGGAATGCGGGACAGGCAGGACTGGAACAGCAGCCAAGGTGGGGTGGAGACTGGGCTCACCTGCTGGATTAGGAGCCGTGTGCGTCTGACATCTTCCTCCATCTGGGAGCGGCTGGCGCTCACCTGGGTCTCCAAGCGCTGGGCACTGGATTGAATCTGTGAGGCAGATTCCTCGGCTGCCCTAATCTGTTGACATACACTCTAGGTCAGAAGGGGTAAGGCCCCAAGGGAACCTCTCAGCAGCCCCACGATTCTGCGGATCATCCTCTATGCCAAGACCTACCTAGGAAGCATTTGTAACCAACCCAGCTTACATGTGGATGTTCAGTAAAAGAGAAAAAAAACTATCTTGCACTTGCTGTGGCACCTTAAGCAGGTCACCTAAAATCTCTGGACTTTAGTGTAAAATGGGAACTCTGACTTGCCCGGGGGATCTATCCTGTCTGCCTCCTCCTACCTGTGCCCACCCCGCCTCGGCTGCACTTACCATCTGCCTGGTCCGCTGGAGCTGGGCATTGAAGCCCCGCAGCTGCTCAGCCACCTGCCCCGCCATCAAGAAGGCCCCACCGGCCCTGGGAAGGACACCCCTGCAGCGGGAGCCACAGGCTGTGCCATTGTCTTGGGGACATAGCTCACCAGGGCATGATATTGGGGTGCAAGCCATCTGCCTGGAGTTGCCACAGAGCTGTGGACAGATGGCGGTGTTAAAGAGGCTACCCAAAGCCCCTCAATAACCAATCCCACCCCACACCTGGGAAACCAACAGCCAGACATCTCCATGACAACCAAGCACCAGAAACAGCCAGACATCTCCATGAGAGCTAAGGACCAGAAACTGGTTTCCTTGGCAACCACTGAGCTCACAGTGAGCAGTACAAGGGTCGGGATGGCTGGGGGAGTGGGGTTCTCACAGGGGCAGATCTGCCCTAATAGGAAGCAGGTGGCAGCAGTTGGTGTGTGACAAGCTGGGGTGTGGGCTCCAGGAAGTGGGACTCCATGCCCCAAGTCACCTTGTTGAAGGTGGGTGTCAGGTCAGGCAACGAAGACATCTCCAGCCTCAGGGCCACAAGCTTGGGGCTGCCGGTGCCTCCTCCTCCTCCCGCCTGCCGCACCAGCCTCTCTGCCTCTCTCCGGCTGTCCCTGAGCTGGTCCAAAAGGCGCGAGCTGTCGGAGACCTGCTGAGCAGCCTGGGCTGACTGCTCGTAGGCTGTGCTCAGCATCCGGAAGGCTCCTGTGGCGAGAAGCATGAGGAATGGAGATGGAGGAGGAGCAGGAGGGAGAGGGGGTGGCATGCCCACCACGGCAGTGCCCATGCCCGGGGTTATCCGGGTGCCCCTCTCCTCACCTGAAGGATCAGCACTGCTTATTTTTTCAAACTGCTCCCTCTTCCTCTGATACATAGTAAGGAGACCATTGAAGCTTCTGTCAAGACTCTCCAGGTCTCTCGGAAGGGACAACGTCTCCTCCTCCAGGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCAGAGCAACTGCTACTGAGTCAGAACAAACAGAGACCTTGGGCAAAGGCAACAGAACAGAGAATCCACAGGCTAAGGGGGTTCCGCTGGACAGAGGCTTGGCGACCAGCACAATCTTTCTCTGTCCAGGTGCAGATGGAGCCACAAAACTCTCCTCCCTTGACTTCTATGACCCAACATTCCCAATTCTCCTCCCCCTCTTCCAGATCCTGGCTTCCATGAGGAGCAATGCCCTGATGCCCTCCTCCTTCGCTCTCTATGGGCTGGCTTCAGCTACCATCTGTACAGCTGCAGCTCCAAAATCTCTTCCACAGTCCACACCTCCCACTCAGCTCCAGATCCCATCACTGCTGCCAGCTGGTCATCCCCCCGAAGGAGGCTCAGAGTCTACCTCCCAGGCCCTTGGCCACTGAGCTCTTGGAGAGTCCTCTCTCCCTGTGCCCTTTGCAGCTCCACCAACCCAACCACCAGCTCCCTCCTCCAAGCCTCACATTCTCCACCTCCAGGCTTTGNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 21,205
|
Assess the variant on chromosome 1, position 209623021, impacting LAMB3 (laminin subunit beta 3): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz']
|
ATTTTCCTGGGTTTCCCCCTGGGGCCAGGCCTCTCTCAGGCCCTGCTTTTTCTCTCTGACCCTGGACTCATCATAAGACTTGACCTGAGATACAAGTATAAGAGAGAGGACAAAAGGGGCCTGGCAGCTCCCTGTCTGTTCACATGAGCCTCAGCTGCACCCGGCAGGAGAGAATTCCAACTCACCTCCCACCCACTGAGGCCAGAGCCCTGGCTGAGATTAATGCAGGATGAGTGGCCATTCAGCCTCACTGGACTTGACTCAGGGGCAAGAATCCCTTATCCATGAGCCTAAGCCCCACACCTTGACCTCCCCCATCATCCACGTTTGTGGGGCACAATCTCCCTACATCCCCAGGTAATATTTTCCCCAGGTGAGTGCCTCAAGGCCTTATGCAAGTCATGAGACCTCAGAAGAACTTTCCTGCCCCTCTCTGACCTGCCACCTGCACTCAGGAGGGGACTTCGGCCTATCTGGGGCAAAAACACTGTAATAGTAGCAAGAGGAGCCACTGTCATTACACCAAGCCCTGGGCTCGTATTAACTGGGCTCCCAGCCAAGCAAATAACCTGGCAGGAACCAGAAATCTAACAATATCAACTCTTGTTCCTGAGGCACTTTTCCTTTTTCAAAACACATTTTACATCAGTTATTTGATCCTCAGAATAAACTTGTGAAATACTACCGTCCCCATTTATAGAAGCAAAAGATGAGGCAAAGAGAAAAGCAGCCTGCCCAATGTCACACGAGTCTCCCGGGTCCTGTTTAGGGATCTTTCCATTGTACAGCCCTTCCTCACTCCCCAGAGCAGTGAGGAAGGGTGTCTGGTTCATTTATTCATGCCACCAATGTCAGATGTCTTTCTGTGTCTGGCCTTATGTTAGGTGCTGGTGACACAGTAGTCAACAAGACAGACAACCATCCTTGCCCTCCTGGAGTCCCCATTCTAGTGGAGTGACAATCCACTTGTTGACAACTGAATGAGGGTGAGTAGTGCAAGGAAAGTAAGATGATGGGGGACAAACAGATCGGATGGTCAGGAAACACCTCTCTGGGGAGATGACCCAGAGGACAAGAAGCAGCAGCCCTGGAAAGAGGACTTCAGGCAGACAAAGAGCAAATAAACATCCCTGAAGCAGGCAAGAGCCTGACATGTTCAAGGACAGCCAGTGAACAAAGCAGAGAAGAGCCCAAGGTCACTCCCAAGAGATGGACAGAGGCCAGGCTCTGTAGCCACGATGGGAGTTGAGAGCTCATTCCAAGAACAAGGTGAAGCCACTGAAGGATTTTAAGCAGGAGTGAGATGTGATCTGACTTATGCATTTTAAAAGAGATATTTCAGCTGTTGTGTTGAGAATGAGAATGGGTCACAAGGGATTGGAGTGGGTGGGGAGGGCAGACGGGAGAACGAGAAGGTCATGGCCATGGTGCCAAGGAGAAGTGGAGGCCTGGATGTTGCAGGCCTGGGACTAGGGAGGGAGGGCTGGCTGATGCACTGAACATGGGAATGCGGGACAGGCAGGACTGGAACAGCAGCCAAGGTGGGGTGGAGACTGGGCTCACCTGTTAGGAAGTCCCGGACCTGCTGGATTAGGAGCCGTGTGCGTCTGACATCTTCCTCCATCTGGGAGCGGCTGGCGCTCACCTGGGTCTCCAAGCGCTGGGCACTGGATTGAATCTGTGAGGCAGATTCCTCGGCTGCCCTAATCTGTTGACATACACTCTAGGTCAGAAGGGGTAAGGCCCCAAGGGAACCTCTCAGCAGCCCCACGATTCTGCGGATCATCCTCTATGCCAAGACCTACCTAGGAAGCATTTGTAACCAACCCAGCTTACATGTGGATGTTCAGTAAAAGAGAAAAAAAACTATCTTGCACTTGCTGTGGCACCTTAAGCAGGTCACCTAAAATCTCTGGACTTTAGTGTAAAATGGGAACTCTGACTTGCCCGGGGGATCTATCCTGTCTGCCTCCTCCTACCTGTGCCCACCCCGCCTCGGCTGCACTTACCATCTGCCTGGTCCGCTGGAGCTGGGCATTGAAGCCCCGCAGCTGCTCAGCCACCTGCCCCGCCATCAAGAAGGCCCCACCGGCCCTGGGAAGGACACCCCTGCAGCGGGAGCCACAGGCTGTGCCATTGTCTTGGGGACATAGCTCACCAGGGCATGATATTGGGGTGCAAGCCATCTGCCTGGAGTTGCCACAGAGCTGTGGACAGATGGCGGTGTTAAAGAGGCTACCCAAAGCCCCTCAATAACCAATCCCACCCCACACCTGGGAAACCAACAGCCAGACATCTCCATGACAACCAAGCACCAGAAACAGCCAGACATCTCCATGAGAGCTAAGGACCAGAAACTGGTTTCCTTGGCAACCACTGAGCTCACAGTGAGCAGTACAAGGGTCGGGATGGCTGGGGGAGTGGGGTTCTCACAGGGGCAGATCTGCCCTAATAGGAAGCAGGTGGCAGCAGTTGGTGTGTGACAAGCTGGGGTGTGGGCTCCAGGAAGTGGGACTCCATGCCCCAAGTCACCTTGTTGAAGGTGGGTGTCAGGTCAGGCAACGAAGACATCTCCAGCCTCAGGGCCACAAGCTTGGGGCTGCCGGTGCCTCCTCCTCCTCCCGCCTGCCGCACCAGCCTCTCTGCCTCTCTCCGGCTGTCCCTGAGCTGGTCCAAAAGGCGCGAGCTGTCGGAGACCTGCTGAGCAGCCTGGGCTGACTGCTCGTAGGCTGTGCTCAGCATCCGGAAGGCTCCTGTGGCGAGAAGCATGAGGAATGGAGATGGAGGAGGAGCAGGAGGGAGAGGGGGTGGCATGCCCACCACGGCAGTGCCCATGCCCGGGGTTATCCGGGTGCCCCTCTCCTCACCTGAAGGATCAGCACTGCTTATTTTTTCAAACTGCTCCCTCTTCCTCTGATACATAGTAAGGAGACCATTGAAGCTTCTGTCAAGACTCTCCAGGTCTCTCGGAAGGGACAACGTCTCCTCCTCCAGGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCAGAGCAACTGCTACTGAGTCAGAACAAACAGAGACCTTGGGCAAAGGCAACAGAACAGAGAATCCACAGGCTAAGGGGGTTCCGCTGGACAGAGGCTTGGCGACCAGCACAATCTTTCTCTGTCCAGGTGCAGATGGAGCCACAAAACTCTCCTCCCTTGACTTCTATGACCCAACATTCCCAATTCTCCTCCCCCTCTTCCAGATCCTGGCTTCCATGAGGAGCAATGCCCTGATGCCCTCCTCCTTCGCTCTCTATGGGCTGGCTTCAGCTACCATCTGTACAGCTGCAGCTCCAAAATCTCTTCCACAGTCCACACCTCCCACTCAGCTCCAGATCCCATCACTGCTGCCAGCTGGTCATCCCCCCGAAGGAGGCTCAGAGTCTACCTCCCAGGCCCTTGGCCACTGAGCTCTTGGAGAGTCCTCTCTCCCTGTGCCCTTTGCAGCTCCACCAACCCAACCACCAGCTCCCTCCTCCAAGCCTCACATTCTCCACCTCCAGGCTTTGATCAGGCACAGAACGCCCTTCCATGGAATGCCCCTCCATGCCTGTGTTTCCAACCTACTGAATCTGGTGGACTGACTGCCCGAATCTGAGACTTAGGTCAGAAGGCACCTCTGTGAAGCCTGCCATGACACATTATAACATGCGTCACATTATAGTTTACCATTTACACATCATTCTCCCCAGTGCGAGCTTCTTGAGCGCAAAGATTATGTCATACTAATTTCAATATCCCCAATGCCTGTACAATGCTTGTTTCATCATAGATGCTCTAAAATTATGTAAAGAGAAAGAAAGAGAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAAAGGGAAGGAAGGAAGGAAGGAAAAAAGAAGGAAAAGAAGGAAGGAAGGAAGGTAGGTTGGTTTTCAATATTCGCTTGAGTTCCTCTCCCGGAGCCCCCAGCCAGAAGCTCTAGCACATCGTGAGTCA
|
ATTTTCCTGGGTTTCCCCCTGGGGCCAGGCCTCTCTCAGGCCCTGCTTTTTCTCTCTGACCCTGGACTCATCATAAGACTTGACCTGAGATACAAGTATAAGAGAGAGGACAAAAGGGGCCTGGCAGCTCCCTGTCTGTTCACATGAGCCTCAGCTGCACCCGGCAGGAGAGAATTCCAACTCACCTCCCACCCACTGAGGCCAGAGCCCTGGCTGAGATTAATGCAGGATGAGTGGCCATTCAGCCTCACTGGACTTGACTCAGGGGCAAGAATCCCTTATCCATGAGCCTAAGCCCCACACCTTGACCTCCCCCATCATCCACGTTTGTGGGGCACAATCTCCCTACATCCCCAGGTAATATTTTCCCCAGGTGAGTGCCTCAAGGCCTTATGCAAGTCATGAGACCTCAGAAGAACTTTCCTGCCCCTCTCTGACCTGCCACCTGCACTCAGGAGGGGACTTCGGCCTATCTGGGGCAAAAACACTGTAATAGTAGCAAGAGGAGCCACTGTCATTACACCAAGCCCTGGGCTCGTATTAACTGGGCTCCCAGCCAAGCAAATAACCTGGCAGGAACCAGAAATCTAACAATATCAACTCTTGTTCCTGAGGCACTTTTCCTTTTTCAAAACACATTTTACATCAGTTATTTGATCCTCAGAATAAACTTGTGAAATACTACCGTCCCCATTTATAGAAGCAAAAGATGAGGCAAAGAGAAAAGCAGCCTGCCCAATGTCACACGAGTCTCCCGGGTCCTGTTTAGGGATCTTTCCATTGTACAGCCCTTCCTCACTCCCCAGAGCAGTGAGGAAGGGTGTCTGGTTCATTTATTCATGCCACCAATGTCAGATGTCTTTCTGTGTCTGGCCTTATGTTAGGTGCTGGTGACACAGTAGTCAACAAGACAGACAACCATCCTTGCCCTCCTGGAGTCCCCATTCTAGTGGAGTGACAATCCACTTGTTGACAACTGAATGAGGGTGAGTAGTGCAAGGAAAGTAAGATGATGGGGGACAAACAGATCGGATGGTCAGGAAACACCTCTCTGGGGAGATGACCCAGAGGACAAGAAGCAGCAGCCCTGGAAAGAGGACTTCAGGCAGACAAAGAGCAAATAAACATCCCTGAAGCAGGCAAGAGCCTGACATGTTCAAGGACAGCCAGTGAACAAAGCAGAGAAGAGCCCAAGGTCACTCCCAAGAGATGGACAGAGGCCAGGCTCTGTAGCCACGATGGGAGTTGAGAGCTCATTCCAAGAACAAGGTGAAGCCACTGAAGGATTTTAAGCAGGAGTGAGATGTGATCTGACTTATGCATTTTAAAAGAGATATTTCAGCTGTTGTGTTGAGAATGAGAATGGGTCACAAGGGATTGGAGTGGGTGGGGAGGGCAGACGGGAGAACGAGAAGGTCATGGCCATGGTGCCAAGGAGAAGTGGAGGCCTGGATGTTGCAGGCCTGGGACTAGGGAGGGAGGGCTGGCTGATGCACTGAACATGGGAATGCGGGACAGGCAGGACTGGAACAGCAGCCAAGGTGGGGTGGAGACTGGGCTCACCTGTTAGGAAGTCCCGGACCTGCTGGATTAGGAGCCGTGTGCGTCTGACATCTTCCTCCATCTGGGAGCGGCTGGCGCTCACCTGGGTCTCCAAGCGCTGGGCACTGGATTGAATCTGTGAGGCAGATTCCTCGGCTGCCCTAATCTGTTGACATACACTCTAGGTCAGAAGGGGTAAGGCCCCAAGGGAACCTCTCAGCAGCCCCACGATTCTGCGGATCATCCTCTATGCCAAGACCTACCTAGGAAGCATTTGTAACCAACCCAGCTTACATGTGGATGTTCAGTAAAAGAGAAAAAAAACTATCTTGCACTTGCTGTGGCACCTTAAGCAGGTCACCTAAAATCTCTGGACTTTAGTGTAAAATGGGAACTCTGACTTGCCCGGGGGATCTATCCTGTCTGCCTCCTCCTACCTGTGCCCACCCCGCCTCGGCTGCACTTACCATCTGCCTGGTCCGCTGGAGCTGGGCATTGAAGCCCCGCGCTGCTCAGCCACCTGCCCCGCCATCAAGAAGGCCCCACCGGCCCTGGGAAGGACACCCCTGCAGCGGGAGCCACAGGCTGTGCCATTGTCTTGGGGACATAGCTCACCAGGGCATGATATTGGGGTGCAAGCCATCTGCCTGGAGTTGCCACAGAGCTGTGGACAGATGGCGGTGTTAAAGAGGCTACCCAAAGCCCCTCAATAACCAATCCCACCCCACACCTGGGAAACCAACAGCCAGACATCTCCATGACAACCAAGCACCAGAAACAGCCAGACATCTCCATGAGAGCTAAGGACCAGAAACTGGTTTCCTTGGCAACCACTGAGCTCACAGTGAGCAGTACAAGGGTCGGGATGGCTGGGGGAGTGGGGTTCTCACAGGGGCAGATCTGCCCTAATAGGAAGCAGGTGGCAGCAGTTGGTGTGTGACAAGCTGGGGTGTGGGCTCCAGGAAGTGGGACTCCATGCCCCAAGTCACCTTGTTGAAGGTGGGTGTCAGGTCAGGCAACGAAGACATCTCCAGCCTCAGGGCCACAAGCTTGGGGCTGCCGGTGCCTCCTCCTCCTCCCGCCTGCCGCACCAGCCTCTCTGCCTCTCTCCGGCTGTCCCTGAGCTGGTCCAAAAGGCGCGAGCTGTCGGAGACCTGCTGAGCAGCCTGGGCTGACTGCTCGTAGGCTGTGCTCAGCATCCGGAAGGCTCCTGTGGCGAGAAGCATGAGGAATGGAGATGGAGGAGGAGCAGGAGGGAGAGGGGGTGGCATGCCCACCACGGCAGTGCCCATGCCCGGGGTTATCCGGGTGCCCCTCTCCTCACCTGAAGGATCAGCACTGCTTATTTTTTCAAACTGCTCCCTCTTCCTCTGATACATAGTAAGGAGACCATTGAAGCTTCTGTCAAGACTCTCCAGGTCTCTCGGAAGGGACAACGTCTCCTCCTCCAGGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCAGAGCAACTGCTACTGAGTCAGAACAAACAGAGACCTTGGGCAAAGGCAACAGAACAGAGAATCCACAGGCTAAGGGGGTTCCGCTGGACAGAGGCTTGGCGACCAGCACAATCTTTCTCTGTCCAGGTGCAGATGGAGCCACAAAACTCTCCTCCCTTGACTTCTATGACCCAACATTCCCAATTCTCCTCCCCCTCTTCCAGATCCTGGCTTCCATGAGGAGCAATGCCCTGATGCCCTCCTCCTTCGCTCTCTATGGGCTGGCTTCAGCTACCATCTGTACAGCTGCAGCTCCAAAATCTCTTCCACAGTCCACACCTCCCACTCAGCTCCAGATCCCATCACTGCTGCCAGCTGGTCATCCCCCCGAAGGAGGCTCAGAGTCTACCTCCCAGGCCCTTGGCCACTGAGCTCTTGGAGAGTCCTCTCTCCCTGTGCCCTTTGCAGCTCCACCAACCCAACCACCAGCTCCCTCCTCCAAGCCTCACATTCTCCACCTCCAGGCTTTGATCAGGCACAGAACGCCCTTCCATGGAATGCCCCTCCATGCCTGTGTTTCCAACCTACTGAATCTGGTGGACTGACTGCCCGAATCTGAGACTTAGGTCAGAAGGCACCTCTGTGAAGCCTGCCATGACACATTATAACATGCGTCACATTATAGTTTACCATTTACACATCATTCTCCCCAGTGCGAGCTTCTTGAGCGCAAAGATTATGTCATACTAATTTCAATATCCCCAATGCCTGTACAATGCTTGTTTCATCATAGATGCTCTAAAATTATGTAAAGAGAAAGAAAGAGAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAAAGGGAAGGAAGGAAGGAAGGAAAAAAGAAGGAAAAGAAGGAAGGAAGGAAGGTAGGTTGGTTTTCAATATTCGCTTGAGTTCCTCTCCCGGAGCCCCCAGCCAGAAGCTCTAGCACATCGTGAGTCAN
|
pathogenic
| 21,212
|
Does the genetic variant at chromosome 1, position 209623042, impacting gene LAMB3 (laminin subunit beta 3), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz']
|
GGGCCAGGCCTCTCTCAGGCCCTGCTTTTTCTCTCTGACCCTGGACTCATCATAAGACTTGACCTGAGATACAAGTATAAGAGAGAGGACAAAAGGGGCCTGGCAGCTCCCTGTCTGTTCACATGAGCCTCAGCTGCACCCGGCAGGAGAGAATTCCAACTCACCTCCCACCCACTGAGGCCAGAGCCCTGGCTGAGATTAATGCAGGATGAGTGGCCATTCAGCCTCACTGGACTTGACTCAGGGGCAAGAATCCCTTATCCATGAGCCTAAGCCCCACACCTTGACCTCCCCCATCATCCACGTTTGTGGGGCACAATCTCCCTACATCCCCAGGTAATATTTTCCCCAGGTGAGTGCCTCAAGGCCTTATGCAAGTCATGAGACCTCAGAAGAACTTTCCTGCCCCTCTCTGACCTGCCACCTGCACTCAGGAGGGGACTTCGGCCTATCTGGGGCAAAAACACTGTAATAGTAGCAAGAGGAGCCACTGTCATTACACCAAGCCCTGGGCTCGTATTAACTGGGCTCCCAGCCAAGCAAATAACCTGGCAGGAACCAGAAATCTAACAATATCAACTCTTGTTCCTGAGGCACTTTTCCTTTTTCAAAACACATTTTACATCAGTTATTTGATCCTCAGAATAAACTTGTGAAATACTACCGTCCCCATTTATAGAAGCAAAAGATGAGGCAAAGAGAAAAGCAGCCTGCCCAATGTCACACGAGTCTCCCGGGTCCTGTTTAGGGATCTTTCCATTGTACAGCCCTTCCTCACTCCCCAGAGCAGTGAGGAAGGGTGTCTGGTTCATTTATTCATGCCACCAATGTCAGATGTCTTTCTGTGTCTGGCCTTATGTTAGGTGCTGGTGACACAGTAGTCAACAAGACAGACAACCATCCTTGCCCTCCTGGAGTCCCCATTCTAGTGGAGTGACAATCCACTTGTTGACAACTGAATGAGGGTGAGTAGTGCAAGGAAAGTAAGATGATGGGGGACAAACAGATCGGATGGTCAGGAAACACCTCTCTGGGGAGATGACCCAGAGGACAAGAAGCAGCAGCCCTGGAAAGAGGACTTCAGGCAGACAAAGAGCAAATAAACATCCCTGAAGCAGGCAAGAGCCTGACATGTTCAAGGACAGCCAGTGAACAAAGCAGAGAAGAGCCCAAGGTCACTCCCAAGAGATGGACAGAGGCCAGGCTCTGTAGCCACGATGGGAGTTGAGAGCTCATTCCAAGAACAAGGTGAAGCCACTGAAGGATTTTAAGCAGGAGTGAGATGTGATCTGACTTATGCATTTTAAAAGAGATATTTCAGCTGTTGTGTTGAGAATGAGAATGGGTCACAAGGGATTGGAGTGGGTGGGGAGGGCAGACGGGAGAACGAGAAGGTCATGGCCATGGTGCCAAGGAGAAGTGGAGGCCTGGATGTTGCAGGCCTGGGACTAGGGAGGGAGGGCTGGCTGATGCACTGAACATGGGAATGCGGGACAGGCAGGACTGGAACAGCAGCCAAGGTGGGGTGGAGACTGGGCTCACCTGTTAGGAAGTCCCGGACCTGCTGGATTAGGAGCCGTGTGCGTCTGACATCTTCCTCCATCTGGGAGCGGCTGGCGCTCACCTGGGTCTCCAAGCGCTGGGCACTGGATTGAATCTGTGAGGCAGATTCCTCGGCTGCCCTAATCTGTTGACATACACTCTAGGTCAGAAGGGGTAAGGCCCCAAGGGAACCTCTCAGCAGCCCCACGATTCTGCGGATCATCCTCTATGCCAAGACCTACCTAGGAAGCATTTGTAACCAACCCAGCTTACATGTGGATGTTCAGTAAAAGAGAAAAAAAACTATCTTGCACTTGCTGTGGCACCTTAAGCAGGTCACCTAAAATCTCTGGACTTTAGTGTAAAATGGGAACTCTGACTTGCCCGGGGGATCTATCCTGTCTGCCTCCTCCTACCTGTGCCCACCCCGCCTCGGCTGCACTTACCATCTGCCTGGTCCGCTGGAGCTGGGCATTGAAGCCCCGCAGCTGCTCAGCCACCTGCCCCGCCATCAAGAAGGCCCCACCGGCCCTGGGAAGGACACCCCTGCAGCGGGAGCCACAGGCTGTGCCATTGTCTTGGGGACATAGCTCACCAGGGCATGATATTGGGGTGCAAGCCATCTGCCTGGAGTTGCCACAGAGCTGTGGACAGATGGCGGTGTTAAAGAGGCTACCCAAAGCCCCTCAATAACCAATCCCACCCCACACCTGGGAAACCAACAGCCAGACATCTCCATGACAACCAAGCACCAGAAACAGCCAGACATCTCCATGAGAGCTAAGGACCAGAAACTGGTTTCCTTGGCAACCACTGAGCTCACAGTGAGCAGTACAAGGGTCGGGATGGCTGGGGGAGTGGGGTTCTCACAGGGGCAGATCTGCCCTAATAGGAAGCAGGTGGCAGCAGTTGGTGTGTGACAAGCTGGGGTGTGGGCTCCAGGAAGTGGGACTCCATGCCCCAAGTCACCTTGTTGAAGGTGGGTGTCAGGTCAGGCAACGAAGACATCTCCAGCCTCAGGGCCACAAGCTTGGGGCTGCCGGTGCCTCCTCCTCCTCCCGCCTGCCGCACCAGCCTCTCTGCCTCTCTCCGGCTGTCCCTGAGCTGGTCCAAAAGGCGCGAGCTGTCGGAGACCTGCTGAGCAGCCTGGGCTGACTGCTCGTAGGCTGTGCTCAGCATCCGGAAGGCTCCTGTGGCGAGAAGCATGAGGAATGGAGATGGAGGAGGAGCAGGAGGGAGAGGGGGTGGCATGCCCACCACGGCAGTGCCCATGCCCGGGGTTATCCGGGTGCCCCTCTCCTCACCTGAAGGATCAGCACTGCTTATTTTTTCAAACTGCTCCCTCTTCCTCTGATACATAGTAAGGAGACCATTGAAGCTTCTGTCAAGACTCTCCAGGTCTCTCGGAAGGGACAACGTCTCCTCCTCCAGGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCAGAGCAACTGCTACTGAGTCAGAACAAACAGAGACCTTGGGCAAAGGCAACAGAACAGAGAATCCACAGGCTAAGGGGGTTCCGCTGGACAGAGGCTTGGCGACCAGCACAATCTTTCTCTGTCCAGGTGCAGATGGAGCCACAAAACTCTCCTCCCTTGACTTCTATGACCCAACATTCCCAATTCTCCTCCCCCTCTTCCAGATCCTGGCTTCCATGAGGAGCAATGCCCTGATGCCCTCCTCCTTCGCTCTCTATGGGCTGGCTTCAGCTACCATCTGTACAGCTGCAGCTCCAAAATCTCTTCCACAGTCCACACCTCCCACTCAGCTCCAGATCCCATCACTGCTGCCAGCTGGTCATCCCCCCGAAGGAGGCTCAGAGTCTACCTCCCAGGCCCTTGGCCACTGAGCTCTTGGAGAGTCCTCTCTCCCTGTGCCCTTTGCAGCTCCACCAACCCAACCACCAGCTCCCTCCTCCAAGCCTCACATTCTCCACCTCCAGGCTTTGATCAGGCACAGAACGCCCTTCCATGGAATGCCCCTCCATGCCTGTGTTTCCAACCTACTGAATCTGGTGGACTGACTGCCCGAATCTGAGACTTAGGTCAGAAGGCACCTCTGTGAAGCCTGCCATGACACATTATAACATGCGTCACATTATAGTTTACCATTTACACATCATTCTCCCCAGTGCGAGCTTCTTGAGCGCAAAGATTATGTCATACTAATTTCAATATCCCCAATGCCTGTACAATGCTTGTTTCATCATAGATGCTCTAAAATTATGTAAAGAGAAAGAAAGAGAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAAAGGGAAGGAAGGAAGGAAGGAAAAAAGAAGGAAAAGAAGGAAGGAAGGAAGGTAGGTTGGTTTTCAATATTCGCTTGAGTTCCTCTCCCGGAGCCCCCAGCCAGAAGCTCTAGCACATCGTGAGTCACGGAGCCTCCATTTTCATTCT
|
GGGCCAGGCCTCTCTCAGGCCCTGCTTTTTCTCTCTGACCCTGGACTCATCATAAGACTTGACCTGAGATACAAGTATAAGAGAGAGGACAAAAGGGGCCTGGCAGCTCCCTGTCTGTTCACATGAGCCTCAGCTGCACCCGGCAGGAGAGAATTCCAACTCACCTCCCACCCACTGAGGCCAGAGCCCTGGCTGAGATTAATGCAGGATGAGTGGCCATTCAGCCTCACTGGACTTGACTCAGGGGCAAGAATCCCTTATCCATGAGCCTAAGCCCCACACCTTGACCTCCCCCATCATCCACGTTTGTGGGGCACAATCTCCCTACATCCCCAGGTAATATTTTCCCCAGGTGAGTGCCTCAAGGCCTTATGCAAGTCATGAGACCTCAGAAGAACTTTCCTGCCCCTCTCTGACCTGCCACCTGCACTCAGGAGGGGACTTCGGCCTATCTGGGGCAAAAACACTGTAATAGTAGCAAGAGGAGCCACTGTCATTACACCAAGCCCTGGGCTCGTATTAACTGGGCTCCCAGCCAAGCAAATAACCTGGCAGGAACCAGAAATCTAACAATATCAACTCTTGTTCCTGAGGCACTTTTCCTTTTTCAAAACACATTTTACATCAGTTATTTGATCCTCAGAATAAACTTGTGAAATACTACCGTCCCCATTTATAGAAGCAAAAGATGAGGCAAAGAGAAAAGCAGCCTGCCCAATGTCACACGAGTCTCCCGGGTCCTGTTTAGGGATCTTTCCATTGTACAGCCCTTCCTCACTCCCCAGAGCAGTGAGGAAGGGTGTCTGGTTCATTTATTCATGCCACCAATGTCAGATGTCTTTCTGTGTCTGGCCTTATGTTAGGTGCTGGTGACACAGTAGTCAACAAGACAGACAACCATCCTTGCCCTCCTGGAGTCCCCATTCTAGTGGAGTGACAATCCACTTGTTGACAACTGAATGAGGGTGAGTAGTGCAAGGAAAGTAAGATGATGGGGGACAAACAGATCGGATGGTCAGGAAACACCTCTCTGGGGAGATGACCCAGAGGACAAGAAGCAGCAGCCCTGGAAAGAGGACTTCAGGCAGACAAAGAGCAAATAAACATCCCTGAAGCAGGCAAGAGCCTGACATGTTCAAGGACAGCCAGTGAACAAAGCAGAGAAGAGCCCAAGGTCACTCCCAAGAGATGGACAGAGGCCAGGCTCTGTAGCCACGATGGGAGTTGAGAGCTCATTCCAAGAACAAGGTGAAGCCACTGAAGGATTTTAAGCAGGAGTGAGATGTGATCTGACTTATGCATTTTAAAAGAGATATTTCAGCTGTTGTGTTGAGAATGAGAATGGGTCACAAGGGATTGGAGTGGGTGGGGAGGGCAGACGGGAGAACGAGAAGGTCATGGCCATGGTGCCAAGGAGAAGTGGAGGCCTGGATGTTGCAGGCCTGGGACTAGGGAGGGAGGGCTGGCTGATGCACTGAACATGGGAATGCGGGACAGGCAGGACTGGAACAGCAGCCAAGGTGGGGTGGAGACTGGGCTCACCTGTTAGGAAGTCCCGGACCTGCTGGATTAGGAGCCGTGTGCGTCTGACATCTTCCTCCATCTGGGAGCGGCTGGCGCTCACCTGGGTCTCCAAGCGCTGGGCACTGGATTGAATCTGTGAGGCAGATTCCTCGGCTGCCCTAATCTGTTGACATACACTCTAGGTCAGAAGGGGTAAGGCCCCAAGGGAACCTCTCAGCAGCCCCACGATTCTGCGGATCATCCTCTATGCCAAGACCTACCTAGGAAGCATTTGTAACCAACCCAGCTTACATGTGGATGTTCAGTAAAAGAGAAAAAAAACTATCTTGCACTTGCTGTGGCACCTTAAGCAGGTCACCTAAAATCTCTGGACTTTAGTGTAAAATGGGAACTCTGACTTGCCCGGGGGATCTATCCTGTCTGCCTCCTCCTACCTGTGCCCACCCCGCCTCGGCTGCACTTACCATCTGCCTGGTCCGCTGGAGCTGGGCATTGAAGCCCCGCAGCTGCTCAGCCACCTGCCCCCCATCAAGAAGGCCCCACCGGCCCTGGGAAGGACACCCCTGCAGCGGGAGCCACAGGCTGTGCCATTGTCTTGGGGACATAGCTCACCAGGGCATGATATTGGGGTGCAAGCCATCTGCCTGGAGTTGCCACAGAGCTGTGGACAGATGGCGGTGTTAAAGAGGCTACCCAAAGCCCCTCAATAACCAATCCCACCCCACACCTGGGAAACCAACAGCCAGACATCTCCATGACAACCAAGCACCAGAAACAGCCAGACATCTCCATGAGAGCTAAGGACCAGAAACTGGTTTCCTTGGCAACCACTGAGCTCACAGTGAGCAGTACAAGGGTCGGGATGGCTGGGGGAGTGGGGTTCTCACAGGGGCAGATCTGCCCTAATAGGAAGCAGGTGGCAGCAGTTGGTGTGTGACAAGCTGGGGTGTGGGCTCCAGGAAGTGGGACTCCATGCCCCAAGTCACCTTGTTGAAGGTGGGTGTCAGGTCAGGCAACGAAGACATCTCCAGCCTCAGGGCCACAAGCTTGGGGCTGCCGGTGCCTCCTCCTCCTCCCGCCTGCCGCACCAGCCTCTCTGCCTCTCTCCGGCTGTCCCTGAGCTGGTCCAAAAGGCGCGAGCTGTCGGAGACCTGCTGAGCAGCCTGGGCTGACTGCTCGTAGGCTGTGCTCAGCATCCGGAAGGCTCCTGTGGCGAGAAGCATGAGGAATGGAGATGGAGGAGGAGCAGGAGGGAGAGGGGGTGGCATGCCCACCACGGCAGTGCCCATGCCCGGGGTTATCCGGGTGCCCCTCTCCTCACCTGAAGGATCAGCACTGCTTATTTTTTCAAACTGCTCCCTCTTCCTCTGATACATAGTAAGGAGACCATTGAAGCTTCTGTCAAGACTCTCCAGGTCTCTCGGAAGGGACAACGTCTCCTCCTCCAGGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCAGAGCAACTGCTACTGAGTCAGAACAAACAGAGACCTTGGGCAAAGGCAACAGAACAGAGAATCCACAGGCTAAGGGGGTTCCGCTGGACAGAGGCTTGGCGACCAGCACAATCTTTCTCTGTCCAGGTGCAGATGGAGCCACAAAACTCTCCTCCCTTGACTTCTATGACCCAACATTCCCAATTCTCCTCCCCCTCTTCCAGATCCTGGCTTCCATGAGGAGCAATGCCCTGATGCCCTCCTCCTTCGCTCTCTATGGGCTGGCTTCAGCTACCATCTGTACAGCTGCAGCTCCAAAATCTCTTCCACAGTCCACACCTCCCACTCAGCTCCAGATCCCATCACTGCTGCCAGCTGGTCATCCCCCCGAAGGAGGCTCAGAGTCTACCTCCCAGGCCCTTGGCCACTGAGCTCTTGGAGAGTCCTCTCTCCCTGTGCCCTTTGCAGCTCCACCAACCCAACCACCAGCTCCCTCCTCCAAGCCTCACATTCTCCACCTCCAGGCTTTGATCAGGCACAGAACGCCCTTCCATGGAATGCCCCTCCATGCCTGTGTTTCCAACCTACTGAATCTGGTGGACTGACTGCCCGAATCTGAGACTTAGGTCAGAAGGCACCTCTGTGAAGCCTGCCATGACACATTATAACATGCGTCACATTATAGTTTACCATTTACACATCATTCTCCCCAGTGCGAGCTTCTTGAGCGCAAAGATTATGTCATACTAATTTCAATATCCCCAATGCCTGTACAATGCTTGTTTCATCATAGATGCTCTAAAATTATGTAAAGAGAAAGAAAGAGAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAAAGGGAAGGAAGGAAGGAAGGAAAAAAGAAGGAAAAGAAGGAAGGAAGGAAGGTAGGTTGGTTTTCAATATTCGCTTGAGTTCCTCTCCCGGAGCCCCCAGCCAGAAGCTCTAGCACATCGTGAGTCACGGAGCCTCCATTTTCATTCTN
|
pathogenic
| 21,213
|
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 209623165, gene LAMB3 (laminin subunit beta 3): what disease(s) if pathogenic?
|
pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz']
|
TGAGCCTCAGCTGCACCCGGCAGGAGAGAATTCCAACTCACCTCCCACCCACTGAGGCCAGAGCCCTGGCTGAGATTAATGCAGGATGAGTGGCCATTCAGCCTCACTGGACTTGACTCAGGGGCAAGAATCCCTTATCCATGAGCCTAAGCCCCACACCTTGACCTCCCCCATCATCCACGTTTGTGGGGCACAATCTCCCTACATCCCCAGGTAATATTTTCCCCAGGTGAGTGCCTCAAGGCCTTATGCAAGTCATGAGACCTCAGAAGAACTTTCCTGCCCCTCTCTGACCTGCCACCTGCACTCAGGAGGGGACTTCGGCCTATCTGGGGCAAAAACACTGTAATAGTAGCAAGAGGAGCCACTGTCATTACACCAAGCCCTGGGCTCGTATTAACTGGGCTCCCAGCCAAGCAAATAACCTGGCAGGAACCAGAAATCTAACAATATCAACTCTTGTTCCTGAGGCACTTTTCCTTTTTCAAAACACATTTTACATCAGTTATTTGATCCTCAGAATAAACTTGTGAAATACTACCGTCCCCATTTATAGAAGCAAAAGATGAGGCAAAGAGAAAAGCAGCCTGCCCAATGTCACACGAGTCTCCCGGGTCCTGTTTAGGGATCTTTCCATTGTACAGCCCTTCCTCACTCCCCAGAGCAGTGAGGAAGGGTGTCTGGTTCATTTATTCATGCCACCAATGTCAGATGTCTTTCTGTGTCTGGCCTTATGTTAGGTGCTGGTGACACAGTAGTCAACAAGACAGACAACCATCCTTGCCCTCCTGGAGTCCCCATTCTAGTGGAGTGACAATCCACTTGTTGACAACTGAATGAGGGTGAGTAGTGCAAGGAAAGTAAGATGATGGGGGACAAACAGATCGGATGGTCAGGAAACACCTCTCTGGGGAGATGACCCAGAGGACAAGAAGCAGCAGCCCTGGAAAGAGGACTTCAGGCAGACAAAGAGCAAATAAACATCCCTGAAGCAGGCAAGAGCCTGACATGTTCAAGGACAGCCAGTGAACAAAGCAGAGAAGAGCCCAAGGTCACTCCCAAGAGATGGACAGAGGCCAGGCTCTGTAGCCACGATGGGAGTTGAGAGCTCATTCCAAGAACAAGGTGAAGCCACTGAAGGATTTTAAGCAGGAGTGAGATGTGATCTGACTTATGCATTTTAAAAGAGATATTTCAGCTGTTGTGTTGAGAATGAGAATGGGTCACAAGGGATTGGAGTGGGTGGGGAGGGCAGACGGGAGAACGAGAAGGTCATGGCCATGGTGCCAAGGAGAAGTGGAGGCCTGGATGTTGCAGGCCTGGGACTAGGGAGGGAGGGCTGGCTGATGCACTGAACATGGGAATGCGGGACAGGCAGGACTGGAACAGCAGCCAAGGTGGGGTGGAGACTGGGCTCACCTGTTAGGAAGTCCCGGACCTGCTGGATTAGGAGCCGTGTGCGTCTGACATCTTCCTCCATCTGGGAGCGGCTGGCGCTCACCTGGGTCTCCAAGCGCTGGGCACTGGATTGAATCTGTGAGGCAGATTCCTCGGCTGCCCTAATCTGTTGACATACACTCTAGGTCAGAAGGGGTAAGGCCCCAAGGGAACCTCTCAGCAGCCCCACGATTCTGCGGATCATCCTCTATGCCAAGACCTACCTAGGAAGCATTTGTAACCAACCCAGCTTACATGTGGATGTTCAGTAAAAGAGAAAAAAAACTATCTTGCACTTGCTGTGGCACCTTAAGCAGGTCACCTAAAATCTCTGGACTTTAGTGTAAAATGGGAACTCTGACTTGCCCGGGGGATCTATCCTGTCTGCCTCCTCCTACCTGTGCCCACCCCGCCTCGGCTGCACTTACCATCTGCCTGGTCCGCTGGAGCTGGGCATTGAAGCCCCGCAGCTGCTCAGCCACCTGCCCCGCCATCAAGAAGGCCCCACCGGCCCTGGGAAGGACACCCCTGCAGCGGGAGCCACAGGCTGTGCCATTGTCTTGGGGACATAGCTCACCAGGGCATGATATTGGGGTGCAAGCCATCTGCCTGGAGTTGCCACAGAGCTGTGGACAGATGGCGGTGTTAAAGAGGCTACCCAAAGCCCCTCAATAACCAATCCCACCCCACACCTGGGAAACCAACAGCCAGACATCTCCATGACAACCAAGCACCAGAAACAGCCAGACATCTCCATGAGAGCTAAGGACCAGAAACTGGTTTCCTTGGCAACCACTGAGCTCACAGTGAGCAGTACAAGGGTCGGGATGGCTGGGGGAGTGGGGTTCTCACAGGGGCAGATCTGCCCTAATAGGAAGCAGGTGGCAGCAGTTGGTGTGTGACAAGCTGGGGTGTGGGCTCCAGGAAGTGGGACTCCATGCCCCAAGTCACCTTGTTGAAGGTGGGTGTCAGGTCAGGCAACGAAGACATCTCCAGCCTCAGGGCCACAAGCTTGGGGCTGCCGGTGCCTCCTCCTCCTCCCGCCTGCCGCACCAGCCTCTCTGCCTCTCTCCGGCTGTCCCTGAGCTGGTCCAAAAGGCGCGAGCTGTCGGAGACCTGCTGAGCAGCCTGGGCTGACTGCTCGTAGGCTGTGCTCAGCATCCGGAAGGCTCCTGTGGCGAGAAGCATGAGGAATGGAGATGGAGGAGGAGCAGGAGGGAGAGGGGGTGGCATGCCCACCACGGCAGTGCCCATGCCCGGGGTTATCCGGGTGCCCCTCTCCTCACCTGAAGGATCAGCACTGCTTATTTTTTCAAACTGCTCCCTCTTCCTCTGATACATAGTAAGGAGACCATTGAAGCTTCTGTCAAGACTCTCCAGGTCTCTCGGAAGGGACAACGTCTCCTCCTCCAGGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCAGAGCAACTGCTACTGAGTCAGAACAAACAGAGACCTTGGGCAAAGGCAACAGAACAGAGAATCCACAGGCTAAGGGGGTTCCGCTGGACAGAGGCTTGGCGACCAGCACAATCTTTCTCTGTCCAGGTGCAGATGGAGCCACAAAACTCTCCTCCCTTGACTTCTATGACCCAACATTCCCAATTCTCCTCCCCCTCTTCCAGATCCTGGCTTCCATGAGGAGCAATGCCCTGATGCCCTCCTCCTTCGCTCTCTATGGGCTGGCTTCAGCTACCATCTGTACAGCTGCAGCTCCAAAATCTCTTCCACAGTCCACACCTCCCACTCAGCTCCAGATCCCATCACTGCTGCCAGCTGGTCATCCCCCCGAAGGAGGCTCAGAGTCTACCTCCCAGGCCCTTGGCCACTGAGCTCTTGGAGAGTCCTCTCTCCCTGTGCCCTTTGCAGCTCCACCAACCCAACCACCAGCTCCCTCCTCCAAGCCTCACATTCTCCACCTCCAGGCTTTGATCAGGCACAGAACGCCCTTCCATGGAATGCCCCTCCATGCCTGTGTTTCCAACCTACTGAATCTGGTGGACTGACTGCCCGAATCTGAGACTTAGGTCAGAAGGCACCTCTGTGAAGCCTGCCATGACACATTATAACATGCGTCACATTATAGTTTACCATTTACACATCATTCTCCCCAGTGCGAGCTTCTTGAGCGCAAAGATTATGTCATACTAATTTCAATATCCCCAATGCCTGTACAATGCTTGTTTCATCATAGATGCTCTAAAATTATGTAAAGAGAAAGAAAGAGAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAAAGGGAAGGAAGGAAGGAAGGAAAAAAGAAGGAAAAGAAGGAAGGAAGGAAGGTAGGTTGGTTTTCAATATTCGCTTGAGTTCCTCTCCCGGAGCCCCCAGCCAGAAGCTCTAGCACATCGTGAGTCACGGAGCCTCCATTTTCATTCTTCTCAGGCTGCCTTTTCCTTCCCCACCACTCACACACCTGGATGGCTCTGTGCACAGTCAGAAAGCCAGTGCTCAGGGAATGCAAACTAATTATAGAAGCTTCCAGAACTGAACCTCACTAAG
|
TGAGCCTCAGCTGCACCCGGCAGGAGAGAATTCCAACTCACCTCCCACCCACTGAGGCCAGAGCCCTGGCTGAGATTAATGCAGGATGAGTGGCCATTCAGCCTCACTGGACTTGACTCAGGGGCAAGAATCCCTTATCCATGAGCCTAAGCCCCACACCTTGACCTCCCCCATCATCCACGTTTGTGGGGCACAATCTCCCTACATCCCCAGGTAATATTTTCCCCAGGTGAGTGCCTCAAGGCCTTATGCAAGTCATGAGACCTCAGAAGAACTTTCCTGCCCCTCTCTGACCTGCCACCTGCACTCAGGAGGGGACTTCGGCCTATCTGGGGCAAAAACACTGTAATAGTAGCAAGAGGAGCCACTGTCATTACACCAAGCCCTGGGCTCGTATTAACTGGGCTCCCAGCCAAGCAAATAACCTGGCAGGAACCAGAAATCTAACAATATCAACTCTTGTTCCTGAGGCACTTTTCCTTTTTCAAAACACATTTTACATCAGTTATTTGATCCTCAGAATAAACTTGTGAAATACTACCGTCCCCATTTATAGAAGCAAAAGATGAGGCAAAGAGAAAAGCAGCCTGCCCAATGTCACACGAGTCTCCCGGGTCCTGTTTAGGGATCTTTCCATTGTACAGCCCTTCCTCACTCCCCAGAGCAGTGAGGAAGGGTGTCTGGTTCATTTATTCATGCCACCAATGTCAGATGTCTTTCTGTGTCTGGCCTTATGTTAGGTGCTGGTGACACAGTAGTCAACAAGACAGACAACCATCCTTGCCCTCCTGGAGTCCCCATTCTAGTGGAGTGACAATCCACTTGTTGACAACTGAATGAGGGTGAGTAGTGCAAGGAAAGTAAGATGATGGGGGACAAACAGATCGGATGGTCAGGAAACACCTCTCTGGGGAGATGACCCAGAGGACAAGAAGCAGCAGCCCTGGAAAGAGGACTTCAGGCAGACAAAGAGCAAATAAACATCCCTGAAGCAGGCAAGAGCCTGACATGTTCAAGGACAGCCAGTGAACAAAGCAGAGAAGAGCCCAAGGTCACTCCCAAGAGATGGACAGAGGCCAGGCTCTGTAGCCACGATGGGAGTTGAGAGCTCATTCCAAGAACAAGGTGAAGCCACTGAAGGATTTTAAGCAGGAGTGAGATGTGATCTGACTTATGCATTTTAAAAGAGATATTTCAGCTGTTGTGTTGAGAATGAGAATGGGTCACAAGGGATTGGAGTGGGTGGGGAGGGCAGACGGGAGAACGAGAAGGTCATGGCCATGGTGCCAAGGAGAAGTGGAGGCCTGGATGTTGCAGGCCTGGGACTAGGGAGGGAGGGCTGGCTGATGCACTGAACATGGGAATGCGGGACAGGCAGGACTGGAACAGCAGCCAAGGTGGGGTGGAGACTGGGCTCACCTGTTAGGAAGTCCCGGACCTGCTGGATTAGGAGCCGTGTGCGTCTGACATCTTCCTCCATCTGGGAGCGGCTGGCGCTCACCTGGGTCTCCAAGCGCTGGGCACTGGATTGAATCTGTGAGGCAGATTCCTCGGCTGCCCTAATCTGTTGACATACACTCTAGGTCAGAAGGGGTAAGGCCCCAAGGGAACCTCTCAGCAGCCCCACGATTCTGCGGATCATCCTCTATGCCAAGACCTACCTAGGAAGCATTTGTAACCAACCCAGCTTACATGTGGATGTTCAGTAAAAGAGAAAAAAAACTATCTTGCACTTGCTGTGGCACCTTAAGCAGGTCACCTAAAATCTCTGGACTTTAGTGTAAAATGGGAACTCTGACTTGCCCGGGGGATCTATCCTGTCTGCCTCCTCCTACCTGTGCCCACCCCGCCTCGGCTGCACTTACCATCTGCCTGGTCCGCTGGAGCTGGGCATTGAAGCCCCGCAGCTGCTCAGCCACCTGCCCCGCCATCAAGAAGGCCCCACCGGCCCTGGGAAGGACACCCCTGCAGCGGGAGCCACAGGCTGTGCCATTGTCTTGGGGACATAGCTCACCAGGGCATGATATTGGGGTGCAAGCCATCTGCCTGGAGCTGTGGACAGATGGCGGTGTTAAAGAGGCTACCCAAAGCCCCTCAATAACCAATCCCACCCCACACCTGGGAAACCAACAGCCAGACATCTCCATGACAACCAAGCACCAGAAACAGCCAGACATCTCCATGAGAGCTAAGGACCAGAAACTGGTTTCCTTGGCAACCACTGAGCTCACAGTGAGCAGTACAAGGGTCGGGATGGCTGGGGGAGTGGGGTTCTCACAGGGGCAGATCTGCCCTAATAGGAAGCAGGTGGCAGCAGTTGGTGTGTGACAAGCTGGGGTGTGGGCTCCAGGAAGTGGGACTCCATGCCCCAAGTCACCTTGTTGAAGGTGGGTGTCAGGTCAGGCAACGAAGACATCTCCAGCCTCAGGGCCACAAGCTTGGGGCTGCCGGTGCCTCCTCCTCCTCCCGCCTGCCGCACCAGCCTCTCTGCCTCTCTCCGGCTGTCCCTGAGCTGGTCCAAAAGGCGCGAGCTGTCGGAGACCTGCTGAGCAGCCTGGGCTGACTGCTCGTAGGCTGTGCTCAGCATCCGGAAGGCTCCTGTGGCGAGAAGCATGAGGAATGGAGATGGAGGAGGAGCAGGAGGGAGAGGGGGTGGCATGCCCACCACGGCAGTGCCCATGCCCGGGGTTATCCGGGTGCCCCTCTCCTCACCTGAAGGATCAGCACTGCTTATTTTTTCAAACTGCTCCCTCTTCCTCTGATACATAGTAAGGAGACCATTGAAGCTTCTGTCAAGACTCTCCAGGTCTCTCGGAAGGGACAACGTCTCCTCCTCCAGGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCAGAGCAACTGCTACTGAGTCAGAACAAACAGAGACCTTGGGCAAAGGCAACAGAACAGAGAATCCACAGGCTAAGGGGGTTCCGCTGGACAGAGGCTTGGCGACCAGCACAATCTTTCTCTGTCCAGGTGCAGATGGAGCCACAAAACTCTCCTCCCTTGACTTCTATGACCCAACATTCCCAATTCTCCTCCCCCTCTTCCAGATCCTGGCTTCCATGAGGAGCAATGCCCTGATGCCCTCCTCCTTCGCTCTCTATGGGCTGGCTTCAGCTACCATCTGTACAGCTGCAGCTCCAAAATCTCTTCCACAGTCCACACCTCCCACTCAGCTCCAGATCCCATCACTGCTGCCAGCTGGTCATCCCCCCGAAGGAGGCTCAGAGTCTACCTCCCAGGCCCTTGGCCACTGAGCTCTTGGAGAGTCCTCTCTCCCTGTGCCCTTTGCAGCTCCACCAACCCAACCACCAGCTCCCTCCTCCAAGCCTCACATTCTCCACCTCCAGGCTTTGATCAGGCACAGAACGCCCTTCCATGGAATGCCCCTCCATGCCTGTGTTTCCAACCTACTGAATCTGGTGGACTGACTGCCCGAATCTGAGACTTAGGTCAGAAGGCACCTCTGTGAAGCCTGCCATGACACATTATAACATGCGTCACATTATAGTTTACCATTTACACATCATTCTCCCCAGTGCGAGCTTCTTGAGCGCAAAGATTATGTCATACTAATTTCAATATCCCCAATGCCTGTACAATGCTTGTTTCATCATAGATGCTCTAAAATTATGTAAAGAGAAAGAAAGAGAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAAAGGGAAGGAAGGAAGGAAGGAAAAAAGAAGGAAAAGAAGGAAGGAAGGAAGGTAGGTTGGTTTTCAATATTCGCTTGAGTTCCTCTCCCGGAGCCCCCAGCCAGAAGCTCTAGCACATCGTGAGTCACGGAGCCTCCATTTTCATTCTTCTCAGGCTGCCTTTTCCTTCCCCACCACTCACACACCTGGATGGCTCTGTGCACAGTCAGAAAGCCAGTGCTCAGGGAATGCAAACTAATTATAGAAGCTTCCAGAACTGAACCTCACTAAGNNNNNNNNNNN
|
pathogenic
| 21,215
|
A mutation at chromosome position 209623516 on chromosome 1 in gene LAMB3 (laminin subunit beta 3): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz']
|
GTAGCAAGAGGAGCCACTGTCATTACACCAAGCCCTGGGCTCGTATTAACTGGGCTCCCAGCCAAGCAAATAACCTGGCAGGAACCAGAAATCTAACAATATCAACTCTTGTTCCTGAGGCACTTTTCCTTTTTCAAAACACATTTTACATCAGTTATTTGATCCTCAGAATAAACTTGTGAAATACTACCGTCCCCATTTATAGAAGCAAAAGATGAGGCAAAGAGAAAAGCAGCCTGCCCAATGTCACACGAGTCTCCCGGGTCCTGTTTAGGGATCTTTCCATTGTACAGCCCTTCCTCACTCCCCAGAGCAGTGAGGAAGGGTGTCTGGTTCATTTATTCATGCCACCAATGTCAGATGTCTTTCTGTGTCTGGCCTTATGTTAGGTGCTGGTGACACAGTAGTCAACAAGACAGACAACCATCCTTGCCCTCCTGGAGTCCCCATTCTAGTGGAGTGACAATCCACTTGTTGACAACTGAATGAGGGTGAGTAGTGCAAGGAAAGTAAGATGATGGGGGACAAACAGATCGGATGGTCAGGAAACACCTCTCTGGGGAGATGACCCAGAGGACAAGAAGCAGCAGCCCTGGAAAGAGGACTTCAGGCAGACAAAGAGCAAATAAACATCCCTGAAGCAGGCAAGAGCCTGACATGTTCAAGGACAGCCAGTGAACAAAGCAGAGAAGAGCCCAAGGTCACTCCCAAGAGATGGACAGAGGCCAGGCTCTGTAGCCACGATGGGAGTTGAGAGCTCATTCCAAGAACAAGGTGAAGCCACTGAAGGATTTTAAGCAGGAGTGAGATGTGATCTGACTTATGCATTTTAAAAGAGATATTTCAGCTGTTGTGTTGAGAATGAGAATGGGTCACAAGGGATTGGAGTGGGTGGGGAGGGCAGACGGGAGAACGAGAAGGTCATGGCCATGGTGCCAAGGAGAAGTGGAGGCCTGGATGTTGCAGGCCTGGGACTAGGGAGGGAGGGCTGGCTGATGCACTGAACATGGGAATGCGGGACAGGCAGGACTGGAACAGCAGCCAAGGTGGGGTGGAGACTGGGCTCACCTGTTAGGAAGTCCCGGACCTGCTGGATTAGGAGCCGTGTGCGTCTGACATCTTCCTCCATCTGGGAGCGGCTGGCGCTCACCTGGGTCTCCAAGCGCTGGGCACTGGATTGAATCTGTGAGGCAGATTCCTCGGCTGCCCTAATCTGTTGACATACACTCTAGGTCAGAAGGGGTAAGGCCCCAAGGGAACCTCTCAGCAGCCCCACGATTCTGCGGATCATCCTCTATGCCAAGACCTACCTAGGAAGCATTTGTAACCAACCCAGCTTACATGTGGATGTTCAGTAAAAGAGAAAAAAAACTATCTTGCACTTGCTGTGGCACCTTAAGCAGGTCACCTAAAATCTCTGGACTTTAGTGTAAAATGGGAACTCTGACTTGCCCGGGGGATCTATCCTGTCTGCCTCCTCCTACCTGTGCCCACCCCGCCTCGGCTGCACTTACCATCTGCCTGGTCCGCTGGAGCTGGGCATTGAAGCCCCGCAGCTGCTCAGCCACCTGCCCCGCCATCAAGAAGGCCCCACCGGCCCTGGGAAGGACACCCCTGCAGCGGGAGCCACAGGCTGTGCCATTGTCTTGGGGACATAGCTCACCAGGGCATGATATTGGGGTGCAAGCCATCTGCCTGGAGTTGCCACAGAGCTGTGGACAGATGGCGGTGTTAAAGAGGCTACCCAAAGCCCCTCAATAACCAATCCCACCCCACACCTGGGAAACCAACAGCCAGACATCTCCATGACAACCAAGCACCAGAAACAGCCAGACATCTCCATGAGAGCTAAGGACCAGAAACTGGTTTCCTTGGCAACCACTGAGCTCACAGTGAGCAGTACAAGGGTCGGGATGGCTGGGGGAGTGGGGTTCTCACAGGGGCAGATCTGCCCTAATAGGAAGCAGGTGGCAGCAGTTGGTGTGTGACAAGCTGGGGTGTGGGCTCCAGGAAGTGGGACTCCATGCCCCAAGTCACCTTGTTGAAGGTGGGTGTCAGGTCAGGCAACGAAGACATCTCCAGCCTCAGGGCCACAAGCTTGGGGCTGCCGGTGCCTCCTCCTCCTCCCGCCTGCCGCACCAGCCTCTCTGCCTCTCTCCGGCTGTCCCTGAGCTGGTCCAAAAGGCGCGAGCTGTCGGAGACCTGCTGAGCAGCCTGGGCTGACTGCTCGTAGGCTGTGCTCAGCATCCGGAAGGCTCCTGTGGCGAGAAGCATGAGGAATGGAGATGGAGGAGGAGCAGGAGGGAGAGGGGGTGGCATGCCCACCACGGCAGTGCCCATGCCCGGGGTTATCCGGGTGCCCCTCTCCTCACCTGAAGGATCAGCACTGCTTATTTTTTCAAACTGCTCCCTCTTCCTCTGATACATAGTAAGGAGACCATTGAAGCTTCTGTCAAGACTCTCCAGGTCTCTCGGAAGGGACAACGTCTCCTCCTCCAGGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCAGAGCAACTGCTACTGAGTCAGAACAAACAGAGACCTTGGGCAAAGGCAACAGAACAGAGAATCCACAGGCTAAGGGGGTTCCGCTGGACAGAGGCTTGGCGACCAGCACAATCTTTCTCTGTCCAGGTGCAGATGGAGCCACAAAACTCTCCTCCCTTGACTTCTATGACCCAACATTCCCAATTCTCCTCCCCCTCTTCCAGATCCTGGCTTCCATGAGGAGCAATGCCCTGATGCCCTCCTCCTTCGCTCTCTATGGGCTGGCTTCAGCTACCATCTGTACAGCTGCAGCTCCAAAATCTCTTCCACAGTCCACACCTCCCACTCAGCTCCAGATCCCATCACTGCTGCCAGCTGGTCATCCCCCCGAAGGAGGCTCAGAGTCTACCTCCCAGGCCCTTGGCCACTGAGCTCTTGGAGAGTCCTCTCTCCCTGTGCCCTTTGCAGCTCCACCAACCCAACCACCAGCTCCCTCCTCCAAGCCTCACATTCTCCACCTCCAGGCTTTGATCAGGCACAGAACGCCCTTCCATGGAATGCCCCTCCATGCCTGTGTTTCCAACCTACTGAATCTGGTGGACTGACTGCCCGAATCTGAGACTTAGGTCAGAAGGCACCTCTGTGAAGCCTGCCATGACACATTATAACATGCGTCACATTATAGTTTACCATTTACACATCATTCTCCCCAGTGCGAGCTTCTTGAGCGCAAAGATTATGTCATACTAATTTCAATATCCCCAATGCCTGTACAATGCTTGTTTCATCATAGATGCTCTAAAATTATGTAAAGAGAAAGAAAGAGAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAAAGGGAAGGAAGGAAGGAAGGAAAAAAGAAGGAAAAGAAGGAAGGAAGGAAGGTAGGTTGGTTTTCAATATTCGCTTGAGTTCCTCTCCCGGAGCCCCCAGCCAGAAGCTCTAGCACATCGTGAGTCACGGAGCCTCCATTTTCATTCTTCTCAGGCTGCCTTTTCCTTCCCCACCACTCACACACCTGGATGGCTCTGTGCACAGTCAGAAAGCCAGTGCTCAGGGAATGCAAACTAATTATAGAAGCTTCCAGAACTGAACCTCACTAAGAAGGCACCTCTGCTGGTGGGATGGGGGTGTGGGCGGGACCAACTTCCATTCCAAAGCCACACGTGAGTTATTTTTAGAGCCCCTGCCTCTCGGATGCCCTCCGCCAGGGTGACTAATCCAGAGCTGACTCTCTCCCACAGGCAGCACTGGGCACTTAAAAGAACGCTGGGCTTGGGCTCCTGGACTGTGTTCTGAGGCCCAGCTCTGCCCTTCGGTGGTCATGTGGCTCTGTCACATCACCTGTCTGTGCCTGTTTTCTCATCTGCAAAACCACACCAGCCTCACAGGACTGTTGTAATGGTTGAAAGAGAGAGCACTGTGAAAATGCCTTTAAACTGTAATGCACTGTAC
|
GTAGCAAGAGGAGCCACTGTCATTACACCAAGCCCTGGGCTCGTATTAACTGGGCTCCCAGCCAAGCAAATAACCTGGCAGGAACCAGAAATCTAACAATATCAACTCTTGTTCCTGAGGCACTTTTCCTTTTTCAAAACACATTTTACATCAGTTATTTGATCCTCAGAATAAACTTGTGAAATACTACCGTCCCCATTTATAGAAGCAAAAGATGAGGCAAAGAGAAAAGCAGCCTGCCCAATGTCACACGAGTCTCCCGGGTCCTGTTTAGGGATCTTTCCATTGTACAGCCCTTCCTCACTCCCCAGAGCAGTGAGGAAGGGTGTCTGGTTCATTTATTCATGCCACCAATGTCAGATGTCTTTCTGTGTCTGGCCTTATGTTAGGTGCTGGTGACACAGTAGTCAACAAGACAGACAACCATCCTTGCCCTCCTGGAGTCCCCATTCTAGTGGAGTGACAATCCACTTGTTGACAACTGAATGAGGGTGAGTAGTGCAAGGAAAGTAAGATGATGGGGGACAAACAGATCGGATGGTCAGGAAACACCTCTCTGGGGAGATGACCCAGAGGACAAGAAGCAGCAGCCCTGGAAAGAGGACTTCAGGCAGACAAAGAGCAAATAAACATCCCTGAAGCAGGCAAGAGCCTGACATGTTCAAGGACAGCCAGTGAACAAAGCAGAGAAGAGCCCAAGGTCACTCCCAAGAGATGGACAGAGGCCAGGCTCTGTAGCCACGATGGGAGTTGAGAGCTCATTCCAAGAACAAGGTGAAGCCACTGAAGGATTTTAAGCAGGAGTGAGATGTGATCTGACTTATGCATTTTAAAAGAGATATTTCAGCTGTTGTGTTGAGAATGAGAATGGGTCACAAGGGATTGGAGTGGGTGGGGAGGGCAGACGGGAGAACGAGAAGGTCATGGCCATGGTGCCAAGGAGAAGTGGAGGCCTGGATGTTGCAGGCCTGGGACTAGGGAGGGAGGGCTGGCTGATGCACTGAACATGGGAATGCGGGACAGGCAGGACTGGAACAGCAGCCAAGGTGGGGTGGAGACTGGGCTCACCTGTTAGGAAGTCCCGGACCTGCTGGATTAGGAGCCGTGTGCGTCTGACATCTTCCTCCATCTGGGAGCGGCTGGCGCTCACCTGGGTCTCCAAGCGCTGGGCACTGGATTGAATCTGTGAGGCAGATTCCTCGGCTGCCCTAATCTGTTGACATACACTCTAGGTCAGAAGGGGTAAGGCCCCAAGGGAACCTCTCAGCAGCCCCACGATTCTGCGGATCATCCTCTATGCCAAGACCTACCTAGGAAGCATTTGTAACCAACCCAGCTTACATGTGGATGTTCAGTAAAAGAGAAAAAAAACTATCTTGCACTTGCTGTGGCACCTTAAGCAGGTCACCTAAAATCTCTGGACTTTAGTGTAAAATGGGAACTCTGACTTGCCCGGGGGATCTATCCTGTCTGCCTCCTCCTACCTGTGCCCACCCCGCCTCGGCTGCACTTACCATCTGCCTGGTCCGCTGGAGCTGGGCATTGAAGCCCCGCAGCTGCTCAGCCACCTGCCCCGCCATCAAGAAGGCCCCACCGGCCCTGGGAAGGACACCCCTGCAGCGGGAGCCACAGGCTGTGCCATTGTCTTGGGGACATAGCTCACCAGGGCATGATATTGGGGTGCAAGCCATCTGCCTGGAGTTGCCACAGAGCTGTGGACAGATGGCGGTGTTAAAGAGGCTACCCAAAGCCCCTCAATAACCAATCCCACCCCACACCTGGGAAACCAACAGCCAGACATCTCCATGACAACCAAGCACCAGAAACAGCCAGACATCTCCATGAGAGCTAAGGACCAGAAACTGGTTTCCTTGGCAACCACTGAGCTCACAGTGAGCAGTACAAGGGTCGGGATGGCTGGGGGAGTGGGGTTCTCACAGGGGCAGATCTGCCCTAATAGGAAGCAGGTGGCAGCAGTTGGTGTGTGACAAGCTGGGGTGTGGGCTCCAGGAAGTGGGACTCCATGCCCCAAGTCACCTTGTTGAAGGTGGTGTCAGGTCAGGCAACGAAGACATCTCCAGCCTCAGGGCCACAAGCTTGGGGCTGCCGGTGCCTCCTCCTCCTCCCGCCTGCCGCACCAGCCTCTCTGCCTCTCTCCGGCTGTCCCTGAGCTGGTCCAAAAGGCGCGAGCTGTCGGAGACCTGCTGAGCAGCCTGGGCTGACTGCTCGTAGGCTGTGCTCAGCATCCGGAAGGCTCCTGTGGCGAGAAGCATGAGGAATGGAGATGGAGGAGGAGCAGGAGGGAGAGGGGGTGGCATGCCCACCACGGCAGTGCCCATGCCCGGGGTTATCCGGGTGCCCCTCTCCTCACCTGAAGGATCAGCACTGCTTATTTTTTCAAACTGCTCCCTCTTCCTCTGATACATAGTAAGGAGACCATTGAAGCTTCTGTCAAGACTCTCCAGGTCTCTCGGAAGGGACAACGTCTCCTCCTCCAGGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCAGAGCAACTGCTACTGAGTCAGAACAAACAGAGACCTTGGGCAAAGGCAACAGAACAGAGAATCCACAGGCTAAGGGGGTTCCGCTGGACAGAGGCTTGGCGACCAGCACAATCTTTCTCTGTCCAGGTGCAGATGGAGCCACAAAACTCTCCTCCCTTGACTTCTATGACCCAACATTCCCAATTCTCCTCCCCCTCTTCCAGATCCTGGCTTCCATGAGGAGCAATGCCCTGATGCCCTCCTCCTTCGCTCTCTATGGGCTGGCTTCAGCTACCATCTGTACAGCTGCAGCTCCAAAATCTCTTCCACAGTCCACACCTCCCACTCAGCTCCAGATCCCATCACTGCTGCCAGCTGGTCATCCCCCCGAAGGAGGCTCAGAGTCTACCTCCCAGGCCCTTGGCCACTGAGCTCTTGGAGAGTCCTCTCTCCCTGTGCCCTTTGCAGCTCCACCAACCCAACCACCAGCTCCCTCCTCCAAGCCTCACATTCTCCACCTCCAGGCTTTGATCAGGCACAGAACGCCCTTCCATGGAATGCCCCTCCATGCCTGTGTTTCCAACCTACTGAATCTGGTGGACTGACTGCCCGAATCTGAGACTTAGGTCAGAAGGCACCTCTGTGAAGCCTGCCATGACACATTATAACATGCGTCACATTATAGTTTACCATTTACACATCATTCTCCCCAGTGCGAGCTTCTTGAGCGCAAAGATTATGTCATACTAATTTCAATATCCCCAATGCCTGTACAATGCTTGTTTCATCATAGATGCTCTAAAATTATGTAAAGAGAAAGAAAGAGAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAAAGGGAAGGAAGGAAGGAAGGAAAAAAGAAGGAAAAGAAGGAAGGAAGGAAGGTAGGTTGGTTTTCAATATTCGCTTGAGTTCCTCTCCCGGAGCCCCCAGCCAGAAGCTCTAGCACATCGTGAGTCACGGAGCCTCCATTTTCATTCTTCTCAGGCTGCCTTTTCCTTCCCCACCACTCACACACCTGGATGGCTCTGTGCACAGTCAGAAAGCCAGTGCTCAGGGAATGCAAACTAATTATAGAAGCTTCCAGAACTGAACCTCACTAAGAAGGCACCTCTGCTGGTGGGATGGGGGTGTGGGCGGGACCAACTTCCATTCCAAAGCCACACGTGAGTTATTTTTAGAGCCCCTGCCTCTCGGATGCCCTCCGCCAGGGTGACTAATCCAGAGCTGACTCTCTCCCACAGGCAGCACTGGGCACTTAAAAGAACGCTGGGCTTGGGCTCCTGGACTGTGTTCTGAGGCCCAGCTCTGCCCTTCGGTGGTCATGTGGCTCTGTCACATCACCTGTCTGTGCCTGTTTTCTCATCTGCAAAACCACACCAGCCTCACAGGACTGTTGTAATGGTTGAAAGAGAGAGCACTGTGAAAATGCCTTTAAACTGTAATGCACTGTACN
|
pathogenic
| 21,217
|
Determine whether the variant at chromosome 1, position 209623574, in gene LAMB3 (laminin subunit beta 3) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz']
|
CAGCCAAGCAAATAACCTGGCAGGAACCAGAAATCTAACAATATCAACTCTTGTTCCTGAGGCACTTTTCCTTTTTCAAAACACATTTTACATCAGTTATTTGATCCTCAGAATAAACTTGTGAAATACTACCGTCCCCATTTATAGAAGCAAAAGATGAGGCAAAGAGAAAAGCAGCCTGCCCAATGTCACACGAGTCTCCCGGGTCCTGTTTAGGGATCTTTCCATTGTACAGCCCTTCCTCACTCCCCAGAGCAGTGAGGAAGGGTGTCTGGTTCATTTATTCATGCCACCAATGTCAGATGTCTTTCTGTGTCTGGCCTTATGTTAGGTGCTGGTGACACAGTAGTCAACAAGACAGACAACCATCCTTGCCCTCCTGGAGTCCCCATTCTAGTGGAGTGACAATCCACTTGTTGACAACTGAATGAGGGTGAGTAGTGCAAGGAAAGTAAGATGATGGGGGACAAACAGATCGGATGGTCAGGAAACACCTCTCTGGGGAGATGACCCAGAGGACAAGAAGCAGCAGCCCTGGAAAGAGGACTTCAGGCAGACAAAGAGCAAATAAACATCCCTGAAGCAGGCAAGAGCCTGACATGTTCAAGGACAGCCAGTGAACAAAGCAGAGAAGAGCCCAAGGTCACTCCCAAGAGATGGACAGAGGCCAGGCTCTGTAGCCACGATGGGAGTTGAGAGCTCATTCCAAGAACAAGGTGAAGCCACTGAAGGATTTTAAGCAGGAGTGAGATGTGATCTGACTTATGCATTTTAAAAGAGATATTTCAGCTGTTGTGTTGAGAATGAGAATGGGTCACAAGGGATTGGAGTGGGTGGGGAGGGCAGACGGGAGAACGAGAAGGTCATGGCCATGGTGCCAAGGAGAAGTGGAGGCCTGGATGTTGCAGGCCTGGGACTAGGGAGGGAGGGCTGGCTGATGCACTGAACATGGGAATGCGGGACAGGCAGGACTGGAACAGCAGCCAAGGTGGGGTGGAGACTGGGCTCACCTGTTAGGAAGTCCCGGACCTGCTGGATTAGGAGCCGTGTGCGTCTGACATCTTCCTCCATCTGGGAGCGGCTGGCGCTCACCTGGGTCTCCAAGCGCTGGGCACTGGATTGAATCTGTGAGGCAGATTCCTCGGCTGCCCTAATCTGTTGACATACACTCTAGGTCAGAAGGGGTAAGGCCCCAAGGGAACCTCTCAGCAGCCCCACGATTCTGCGGATCATCCTCTATGCCAAGACCTACCTAGGAAGCATTTGTAACCAACCCAGCTTACATGTGGATGTTCAGTAAAAGAGAAAAAAAACTATCTTGCACTTGCTGTGGCACCTTAAGCAGGTCACCTAAAATCTCTGGACTTTAGTGTAAAATGGGAACTCTGACTTGCCCGGGGGATCTATCCTGTCTGCCTCCTCCTACCTGTGCCCACCCCGCCTCGGCTGCACTTACCATCTGCCTGGTCCGCTGGAGCTGGGCATTGAAGCCCCGCAGCTGCTCAGCCACCTGCCCCGCCATCAAGAAGGCCCCACCGGCCCTGGGAAGGACACCCCTGCAGCGGGAGCCACAGGCTGTGCCATTGTCTTGGGGACATAGCTCACCAGGGCATGATATTGGGGTGCAAGCCATCTGCCTGGAGTTGCCACAGAGCTGTGGACAGATGGCGGTGTTAAAGAGGCTACCCAAAGCCCCTCAATAACCAATCCCACCCCACACCTGGGAAACCAACAGCCAGACATCTCCATGACAACCAAGCACCAGAAACAGCCAGACATCTCCATGAGAGCTAAGGACCAGAAACTGGTTTCCTTGGCAACCACTGAGCTCACAGTGAGCAGTACAAGGGTCGGGATGGCTGGGGGAGTGGGGTTCTCACAGGGGCAGATCTGCCCTAATAGGAAGCAGGTGGCAGCAGTTGGTGTGTGACAAGCTGGGGTGTGGGCTCCAGGAAGTGGGACTCCATGCCCCAAGTCACCTTGTTGAAGGTGGGTGTCAGGTCAGGCAACGAAGACATCTCCAGCCTCAGGGCCACAAGCTTGGGGCTGCCGGTGCCTCCTCCTCCTCCCGCCTGCCGCACCAGCCTCTCTGCCTCTCTCCGGCTGTCCCTGAGCTGGTCCAAAAGGCGCGAGCTGTCGGAGACCTGCTGAGCAGCCTGGGCTGACTGCTCGTAGGCTGTGCTCAGCATCCGGAAGGCTCCTGTGGCGAGAAGCATGAGGAATGGAGATGGAGGAGGAGCAGGAGGGAGAGGGGGTGGCATGCCCACCACGGCAGTGCCCATGCCCGGGGTTATCCGGGTGCCCCTCTCCTCACCTGAAGGATCAGCACTGCTTATTTTTTCAAACTGCTCCCTCTTCCTCTGATACATAGTAAGGAGACCATTGAAGCTTCTGTCAAGACTCTCCAGGTCTCTCGGAAGGGACAACGTCTCCTCCTCCAGGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCAGAGCAACTGCTACTGAGTCAGAACAAACAGAGACCTTGGGCAAAGGCAACAGAACAGAGAATCCACAGGCTAAGGGGGTTCCGCTGGACAGAGGCTTGGCGACCAGCACAATCTTTCTCTGTCCAGGTGCAGATGGAGCCACAAAACTCTCCTCCCTTGACTTCTATGACCCAACATTCCCAATTCTCCTCCCCCTCTTCCAGATCCTGGCTTCCATGAGGAGCAATGCCCTGATGCCCTCCTCCTTCGCTCTCTATGGGCTGGCTTCAGCTACCATCTGTACAGCTGCAGCTCCAAAATCTCTTCCACAGTCCACACCTCCCACTCAGCTCCAGATCCCATCACTGCTGCCAGCTGGTCATCCCCCCGAAGGAGGCTCAGAGTCTACCTCCCAGGCCCTTGGCCACTGAGCTCTTGGAGAGTCCTCTCTCCCTGTGCCCTTTGCAGCTCCACCAACCCAACCACCAGCTCCCTCCTCCAAGCCTCACATTCTCCACCTCCAGGCTTTGATCAGGCACAGAACGCCCTTCCATGGAATGCCCCTCCATGCCTGTGTTTCCAACCTACTGAATCTGGTGGACTGACTGCCCGAATCTGAGACTTAGGTCAGAAGGCACCTCTGTGAAGCCTGCCATGACACATTATAACATGCGTCACATTATAGTTTACCATTTACACATCATTCTCCCCAGTGCGAGCTTCTTGAGCGCAAAGATTATGTCATACTAATTTCAATATCCCCAATGCCTGTACAATGCTTGTTTCATCATAGATGCTCTAAAATTATGTAAAGAGAAAGAAAGAGAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAAAGGGAAGGAAGGAAGGAAGGAAAAAAGAAGGAAAAGAAGGAAGGAAGGAAGGTAGGTTGGTTTTCAATATTCGCTTGAGTTCCTCTCCCGGAGCCCCCAGCCAGAAGCTCTAGCACATCGTGAGTCACGGAGCCTCCATTTTCATTCTTCTCAGGCTGCCTTTTCCTTCCCCACCACTCACACACCTGGATGGCTCTGTGCACAGTCAGAAAGCCAGTGCTCAGGGAATGCAAACTAATTATAGAAGCTTCCAGAACTGAACCTCACTAAGAAGGCACCTCTGCTGGTGGGATGGGGGTGTGGGCGGGACCAACTTCCATTCCAAAGCCACACGTGAGTTATTTTTAGAGCCCCTGCCTCTCGGATGCCCTCCGCCAGGGTGACTAATCCAGAGCTGACTCTCTCCCACAGGCAGCACTGGGCACTTAAAAGAACGCTGGGCTTGGGCTCCTGGACTGTGTTCTGAGGCCCAGCTCTGCCCTTCGGTGGTCATGTGGCTCTGTCACATCACCTGTCTGTGCCTGTTTTCTCATCTGCAAAACCACACCAGCCTCACAGGACTGTTGTAATGGTTGAAAGAGAGAGCACTGTGAAAATGCCTTTAAACTGTAATGCACTGTACAAATGTAAGGAAGGACCAGCATGCCCGGTACTGGAACCCCTGGAGCATAATTCTTGCA
|
CAGCCAAGCAAATAACCTGGCAGGAACCAGAAATCTAACAATATCAACTCTTGTTCCTGAGGCACTTTTCCTTTTTCAAAACACATTTTACATCAGTTATTTGATCCTCAGAATAAACTTGTGAAATACTACCGTCCCCATTTATAGAAGCAAAAGATGAGGCAAAGAGAAAAGCAGCCTGCCCAATGTCACACGAGTCTCCCGGGTCCTGTTTAGGGATCTTTCCATTGTACAGCCCTTCCTCACTCCCCAGAGCAGTGAGGAAGGGTGTCTGGTTCATTTATTCATGCCACCAATGTCAGATGTCTTTCTGTGTCTGGCCTTATGTTAGGTGCTGGTGACACAGTAGTCAACAAGACAGACAACCATCCTTGCCCTCCTGGAGTCCCCATTCTAGTGGAGTGACAATCCACTTGTTGACAACTGAATGAGGGTGAGTAGTGCAAGGAAAGTAAGATGATGGGGGACAAACAGATCGGATGGTCAGGAAACACCTCTCTGGGGAGATGACCCAGAGGACAAGAAGCAGCAGCCCTGGAAAGAGGACTTCAGGCAGACAAAGAGCAAATAAACATCCCTGAAGCAGGCAAGAGCCTGACATGTTCAAGGACAGCCAGTGAACAAAGCAGAGAAGAGCCCAAGGTCACTCCCAAGAGATGGACAGAGGCCAGGCTCTGTAGCCACGATGGGAGTTGAGAGCTCATTCCAAGAACAAGGTGAAGCCACTGAAGGATTTTAAGCAGGAGTGAGATGTGATCTGACTTATGCATTTTAAAAGAGATATTTCAGCTGTTGTGTTGAGAATGAGAATGGGTCACAAGGGATTGGAGTGGGTGGGGAGGGCAGACGGGAGAACGAGAAGGTCATGGCCATGGTGCCAAGGAGAAGTGGAGGCCTGGATGTTGCAGGCCTGGGACTAGGGAGGGAGGGCTGGCTGATGCACTGAACATGGGAATGCGGGACAGGCAGGACTGGAACAGCAGCCAAGGTGGGGTGGAGACTGGGCTCACCTGTTAGGAAGTCCCGGACCTGCTGGATTAGGAGCCGTGTGCGTCTGACATCTTCCTCCATCTGGGAGCGGCTGGCGCTCACCTGGGTCTCCAAGCGCTGGGCACTGGATTGAATCTGTGAGGCAGATTCCTCGGCTGCCCTAATCTGTTGACATACACTCTAGGTCAGAAGGGGTAAGGCCCCAAGGGAACCTCTCAGCAGCCCCACGATTCTGCGGATCATCCTCTATGCCAAGACCTACCTAGGAAGCATTTGTAACCAACCCAGCTTACATGTGGATGTTCAGTAAAAGAGAAAAAAAACTATCTTGCACTTGCTGTGGCACCTTAAGCAGGTCACCTAAAATCTCTGGACTTTAGTGTAAAATGGGAACTCTGACTTGCCCGGGGGATCTATCCTGTCTGCCTCCTCCTACCTGTGCCCACCCCGCCTCGGCTGCACTTACCATCTGCCTGGTCCGCTGGAGCTGGGCATTGAAGCCCCGCAGCTGCTCAGCCACCTGCCCCGCCATCAAGAAGGCCCCACCGGCCCTGGGAAGGACACCCCTGCAGCGGGAGCCACAGGCTGTGCCATTGTCTTGGGGACATAGCTCACCAGGGCATGATATTGGGGTGCAAGCCATCTGCCTGGAGTTGCCACAGAGCTGTGGACAGATGGCGGTGTTAAAGAGGCTACCCAAAGCCCCTCAATAACCAATCCCACCCCACACCTGGGAAACCAACAGCCAGACATCTCCATGACAACCAAGCACCAGAAACAGCCAGACATCTCCATGAGAGCTAAGGACCAGAAACTGGTTTCCTTGGCAACCACTGAGCTCACAGTGAGCAGTACAAGGGTCGGGATGGCTGGGGGAGTGGGGTTCTCACAGGGGCAGATCTGCCCTAATAGGAAGCAGGTGGCAGCAGTTGGTGTGTGACAAGCTGGGGTGTGGGCTCCAGGAAGTGGGACTCCATGCCCCAAGTCACCTTGTTGAAGGTGGGTGTCAGGTCAGGCAACGAAGACATCTCCAGCCTCAGGGCCACAAGCTTGGGGCTGCGGTGCCTCCTCCTCCTCCCGCCTGCCGCACCAGCCTCTCTGCCTCTCTCCGGCTGTCCCTGAGCTGGTCCAAAAGGCGCGAGCTGTCGGAGACCTGCTGAGCAGCCTGGGCTGACTGCTCGTAGGCTGTGCTCAGCATCCGGAAGGCTCCTGTGGCGAGAAGCATGAGGAATGGAGATGGAGGAGGAGCAGGAGGGAGAGGGGGTGGCATGCCCACCACGGCAGTGCCCATGCCCGGGGTTATCCGGGTGCCCCTCTCCTCACCTGAAGGATCAGCACTGCTTATTTTTTCAAACTGCTCCCTCTTCCTCTGATACATAGTAAGGAGACCATTGAAGCTTCTGTCAAGACTCTCCAGGTCTCTCGGAAGGGACAACGTCTCCTCCTCCAGGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCAGAGCAACTGCTACTGAGTCAGAACAAACAGAGACCTTGGGCAAAGGCAACAGAACAGAGAATCCACAGGCTAAGGGGGTTCCGCTGGACAGAGGCTTGGCGACCAGCACAATCTTTCTCTGTCCAGGTGCAGATGGAGCCACAAAACTCTCCTCCCTTGACTTCTATGACCCAACATTCCCAATTCTCCTCCCCCTCTTCCAGATCCTGGCTTCCATGAGGAGCAATGCCCTGATGCCCTCCTCCTTCGCTCTCTATGGGCTGGCTTCAGCTACCATCTGTACAGCTGCAGCTCCAAAATCTCTTCCACAGTCCACACCTCCCACTCAGCTCCAGATCCCATCACTGCTGCCAGCTGGTCATCCCCCCGAAGGAGGCTCAGAGTCTACCTCCCAGGCCCTTGGCCACTGAGCTCTTGGAGAGTCCTCTCTCCCTGTGCCCTTTGCAGCTCCACCAACCCAACCACCAGCTCCCTCCTCCAAGCCTCACATTCTCCACCTCCAGGCTTTGATCAGGCACAGAACGCCCTTCCATGGAATGCCCCTCCATGCCTGTGTTTCCAACCTACTGAATCTGGTGGACTGACTGCCCGAATCTGAGACTTAGGTCAGAAGGCACCTCTGTGAAGCCTGCCATGACACATTATAACATGCGTCACATTATAGTTTACCATTTACACATCATTCTCCCCAGTGCGAGCTTCTTGAGCGCAAAGATTATGTCATACTAATTTCAATATCCCCAATGCCTGTACAATGCTTGTTTCATCATAGATGCTCTAAAATTATGTAAAGAGAAAGAAAGAGAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAAAGGGAAGGAAGGAAGGAAGGAAAAAAGAAGGAAAAGAAGGAAGGAAGGAAGGTAGGTTGGTTTTCAATATTCGCTTGAGTTCCTCTCCCGGAGCCCCCAGCCAGAAGCTCTAGCACATCGTGAGTCACGGAGCCTCCATTTTCATTCTTCTCAGGCTGCCTTTTCCTTCCCCACCACTCACACACCTGGATGGCTCTGTGCACAGTCAGAAAGCCAGTGCTCAGGGAATGCAAACTAATTATAGAAGCTTCCAGAACTGAACCTCACTAAGAAGGCACCTCTGCTGGTGGGATGGGGGTGTGGGCGGGACCAACTTCCATTCCAAAGCCACACGTGAGTTATTTTTAGAGCCCCTGCCTCTCGGATGCCCTCCGCCAGGGTGACTAATCCAGAGCTGACTCTCTCCCACAGGCAGCACTGGGCACTTAAAAGAACGCTGGGCTTGGGCTCCTGGACTGTGTTCTGAGGCCCAGCTCTGCCCTTCGGTGGTCATGTGGCTCTGTCACATCACCTGTCTGTGCCTGTTTTCTCATCTGCAAAACCACACCAGCCTCACAGGACTGTTGTAATGGTTGAAAGAGAGAGCACTGTGAAAATGCCTTTAAACTGTAATGCACTGTACAAATGTAAGGAAGGACCAGCATGCCCGGTACTGGAACCCCTGGAGCATAATTCTTGCAN
|
pathogenic
| 21,218
|
Variant at chromosome 1, position 209623860, gene LAMB3 (laminin subunit beta 3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz']
|
ATGCCACCAATGTCAGATGTCTTTCTGTGTCTGGCCTTATGTTAGGTGCTGGTGACACAGTAGTCAACAAGACAGACAACCATCCTTGCCCTCCTGGAGTCCCCATTCTAGTGGAGTGACAATCCACTTGTTGACAACTGAATGAGGGTGAGTAGTGCAAGGAAAGTAAGATGATGGGGGACAAACAGATCGGATGGTCAGGAAACACCTCTCTGGGGAGATGACCCAGAGGACAAGAAGCAGCAGCCCTGGAAAGAGGACTTCAGGCAGACAAAGAGCAAATAAACATCCCTGAAGCAGGCAAGAGCCTGACATGTTCAAGGACAGCCAGTGAACAAAGCAGAGAAGAGCCCAAGGTCACTCCCAAGAGATGGACAGAGGCCAGGCTCTGTAGCCACGATGGGAGTTGAGAGCTCATTCCAAGAACAAGGTGAAGCCACTGAAGGATTTTAAGCAGGAGTGAGATGTGATCTGACTTATGCATTTTAAAAGAGATATTTCAGCTGTTGTGTTGAGAATGAGAATGGGTCACAAGGGATTGGAGTGGGTGGGGAGGGCAGACGGGAGAACGAGAAGGTCATGGCCATGGTGCCAAGGAGAAGTGGAGGCCTGGATGTTGCAGGCCTGGGACTAGGGAGGGAGGGCTGGCTGATGCACTGAACATGGGAATGCGGGACAGGCAGGACTGGAACAGCAGCCAAGGTGGGGTGGAGACTGGGCTCACCTGTTAGGAAGTCCCGGACCTGCTGGATTAGGAGCCGTGTGCGTCTGACATCTTCCTCCATCTGGGAGCGGCTGGCGCTCACCTGGGTCTCCAAGCGCTGGGCACTGGATTGAATCTGTGAGGCAGATTCCTCGGCTGCCCTAATCTGTTGACATACACTCTAGGTCAGAAGGGGTAAGGCCCCAAGGGAACCTCTCAGCAGCCCCACGATTCTGCGGATCATCCTCTATGCCAAGACCTACCTAGGAAGCATTTGTAACCAACCCAGCTTACATGTGGATGTTCAGTAAAAGAGAAAAAAAACTATCTTGCACTTGCTGTGGCACCTTAAGCAGGTCACCTAAAATCTCTGGACTTTAGTGTAAAATGGGAACTCTGACTTGCCCGGGGGATCTATCCTGTCTGCCTCCTCCTACCTGTGCCCACCCCGCCTCGGCTGCACTTACCATCTGCCTGGTCCGCTGGAGCTGGGCATTGAAGCCCCGCAGCTGCTCAGCCACCTGCCCCGCCATCAAGAAGGCCCCACCGGCCCTGGGAAGGACACCCCTGCAGCGGGAGCCACAGGCTGTGCCATTGTCTTGGGGACATAGCTCACCAGGGCATGATATTGGGGTGCAAGCCATCTGCCTGGAGTTGCCACAGAGCTGTGGACAGATGGCGGTGTTAAAGAGGCTACCCAAAGCCCCTCAATAACCAATCCCACCCCACACCTGGGAAACCAACAGCCAGACATCTCCATGACAACCAAGCACCAGAAACAGCCAGACATCTCCATGAGAGCTAAGGACCAGAAACTGGTTTCCTTGGCAACCACTGAGCTCACAGTGAGCAGTACAAGGGTCGGGATGGCTGGGGGAGTGGGGTTCTCACAGGGGCAGATCTGCCCTAATAGGAAGCAGGTGGCAGCAGTTGGTGTGTGACAAGCTGGGGTGTGGGCTCCAGGAAGTGGGACTCCATGCCCCAAGTCACCTTGTTGAAGGTGGGTGTCAGGTCAGGCAACGAAGACATCTCCAGCCTCAGGGCCACAAGCTTGGGGCTGCCGGTGCCTCCTCCTCCTCCCGCCTGCCGCACCAGCCTCTCTGCCTCTCTCCGGCTGTCCCTGAGCTGGTCCAAAAGGCGCGAGCTGTCGGAGACCTGCTGAGCAGCCTGGGCTGACTGCTCGTAGGCTGTGCTCAGCATCCGGAAGGCTCCTGTGGCGAGAAGCATGAGGAATGGAGATGGAGGAGGAGCAGGAGGGAGAGGGGGTGGCATGCCCACCACGGCAGTGCCCATGCCCGGGGTTATCCGGGTGCCCCTCTCCTCACCTGAAGGATCAGCACTGCTTATTTTTTCAAACTGCTCCCTCTTCCTCTGATACATAGTAAGGAGACCATTGAAGCTTCTGTCAAGACTCTCCAGGTCTCTCGGAAGGGACAACGTCTCCTCCTCCAGGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCAGAGCAACTGCTACTGAGTCAGAACAAACAGAGACCTTGGGCAAAGGCAACAGAACAGAGAATCCACAGGCTAAGGGGGTTCCGCTGGACAGAGGCTTGGCGACCAGCACAATCTTTCTCTGTCCAGGTGCAGATGGAGCCACAAAACTCTCCTCCCTTGACTTCTATGACCCAACATTCCCAATTCTCCTCCCCCTCTTCCAGATCCTGGCTTCCATGAGGAGCAATGCCCTGATGCCCTCCTCCTTCGCTCTCTATGGGCTGGCTTCAGCTACCATCTGTACAGCTGCAGCTCCAAAATCTCTTCCACAGTCCACACCTCCCACTCAGCTCCAGATCCCATCACTGCTGCCAGCTGGTCATCCCCCCGAAGGAGGCTCAGAGTCTACCTCCCAGGCCCTTGGCCACTGAGCTCTTGGAGAGTCCTCTCTCCCTGTGCCCTTTGCAGCTCCACCAACCCAACCACCAGCTCCCTCCTCCAAGCCTCACATTCTCCACCTCCAGGCTTTGATCAGGCACAGAACGCCCTTCCATGGAATGCCCCTCCATGCCTGTGTTTCCAACCTACTGAATCTGGTGGACTGACTGCCCGAATCTGAGACTTAGGTCAGAAGGCACCTCTGTGAAGCCTGCCATGACACATTATAACATGCGTCACATTATAGTTTACCATTTACACATCATTCTCCCCAGTGCGAGCTTCTTGAGCGCAAAGATTATGTCATACTAATTTCAATATCCCCAATGCCTGTACAATGCTTGTTTCATCATAGATGCTCTAAAATTATGTAAAGAGAAAGAAAGAGAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAAAGGGAAGGAAGGAAGGAAGGAAAAAAGAAGGAAAAGAAGGAAGGAAGGAAGGTAGGTTGGTTTTCAATATTCGCTTGAGTTCCTCTCCCGGAGCCCCCAGCCAGAAGCTCTAGCACATCGTGAGTCACGGAGCCTCCATTTTCATTCTTCTCAGGCTGCCTTTTCCTTCCCCACCACTCACACACCTGGATGGCTCTGTGCACAGTCAGAAAGCCAGTGCTCAGGGAATGCAAACTAATTATAGAAGCTTCCAGAACTGAACCTCACTAAGAAGGCACCTCTGCTGGTGGGATGGGGGTGTGGGCGGGACCAACTTCCATTCCAAAGCCACACGTGAGTTATTTTTAGAGCCCCTGCCTCTCGGATGCCCTCCGCCAGGGTGACTAATCCAGAGCTGACTCTCTCCCACAGGCAGCACTGGGCACTTAAAAGAACGCTGGGCTTGGGCTCCTGGACTGTGTTCTGAGGCCCAGCTCTGCCCTTCGGTGGTCATGTGGCTCTGTCACATCACCTGTCTGTGCCTGTTTTCTCATCTGCAAAACCACACCAGCCTCACAGGACTGTTGTAATGGTTGAAAGAGAGAGCACTGTGAAAATGCCTTTAAACTGTAATGCACTGTACAAATGTAAGGAAGGACCAGCATGCCCGGTACTGGAACCCCTGGAGCATAATTCTTGCAAATGCTTGGCAGGGAAAGGGAATTACCTGAGGGAGAGGATGGCACTGGCCACCTGAGCCACCTCCTGCTCTGTGACTGCGGGGCTGCTGAGAACTGCTCGGATCTGCTCAATCTTACTCTTTGCATCTAGGATCCGGGAGGCCAGGCCACGGTCCTCCAGCCCAGGCCCTGACCACAGGCTGGCGGTGGCATTGCGGAGTCTACCAAAGCGCAGGGCCTGCTCCCGGAGGTCCGCATCATAGGTCTGGAAGCAAGGGTGGCAGGCCACGCACACCGGGTAGCGATT
|
ATGCCACCAATGTCAGATGTCTTTCTGTGTCTGGCCTTATGTTAGGTGCTGGTGACACAGTAGTCAACAAGACAGACAACCATCCTTGCCCTCCTGGAGTCCCCATTCTAGTGGAGTGACAATCCACTTGTTGACAACTGAATGAGGGTGAGTAGTGCAAGGAAAGTAAGATGATGGGGGACAAACAGATCGGATGGTCAGGAAACACCTCTCTGGGGAGATGACCCAGAGGACAAGAAGCAGCAGCCCTGGAAAGAGGACTTCAGGCAGACAAAGAGCAAATAAACATCCCTGAAGCAGGCAAGAGCCTGACATGTTCAAGGACAGCCAGTGAACAAAGCAGAGAAGAGCCCAAGGTCACTCCCAAGAGATGGACAGAGGCCAGGCTCTGTAGCCACGATGGGAGTTGAGAGCTCATTCCAAGAACAAGGTGAAGCCACTGAAGGATTTTAAGCAGGAGTGAGATGTGATCTGACTTATGCATTTTAAAAGAGATATTTCAGCTGTTGTGTTGAGAATGAGAATGGGTCACAAGGGATTGGAGTGGGTGGGGAGGGCAGACGGGAGAACGAGAAGGTCATGGCCATGGTGCCAAGGAGAAGTGGAGGCCTGGATGTTGCAGGCCTGGGACTAGGGAGGGAGGGCTGGCTGATGCACTGAACATGGGAATGCGGGACAGGCAGGACTGGAACAGCAGCCAAGGTGGGGTGGAGACTGGGCTCACCTGTTAGGAAGTCCCGGACCTGCTGGATTAGGAGCCGTGTGCGTCTGACATCTTCCTCCATCTGGGAGCGGCTGGCGCTCACCTGGGTCTCCAAGCGCTGGGCACTGGATTGAATCTGTGAGGCAGATTCCTCGGCTGCCCTAATCTGTTGACATACACTCTAGGTCAGAAGGGGTAAGGCCCCAAGGGAACCTCTCAGCAGCCCCACGATTCTGCGGATCATCCTCTATGCCAAGACCTACCTAGGAAGCATTTGTAACCAACCCAGCTTACATGTGGATGTTCAGTAAAAGAGAAAAAAAACTATCTTGCACTTGCTGTGGCACCTTAAGCAGGTCACCTAAAATCTCTGGACTTTAGTGTAAAATGGGAACTCTGACTTGCCCGGGGGATCTATCCTGTCTGCCTCCTCCTACCTGTGCCCACCCCGCCTCGGCTGCACTTACCATCTGCCTGGTCCGCTGGAGCTGGGCATTGAAGCCCCGCAGCTGCTCAGCCACCTGCCCCGCCATCAAGAAGGCCCCACCGGCCCTGGGAAGGACACCCCTGCAGCGGGAGCCACAGGCTGTGCCATTGTCTTGGGGACATAGCTCACCAGGGCATGATATTGGGGTGCAAGCCATCTGCCTGGAGTTGCCACAGAGCTGTGGACAGATGGCGGTGTTAAAGAGGCTACCCAAAGCCCCTCAATAACCAATCCCACCCCACACCTGGGAAACCAACAGCCAGACATCTCCATGACAACCAAGCACCAGAAACAGCCAGACATCTCCATGAGAGCTAAGGACCAGAAACTGGTTTCCTTGGCAACCACTGAGCTCACAGTGAGCAGTACAAGGGTCGGGATGGCTGGGGGAGTGGGGTTCTCACAGGGGCAGATCTGCCCTAATAGGAAGCAGGTGGCAGCAGTTGGTGTGTGACAAGCTGGGGTGTGGGCTCCAGGAAGTGGGACTCCATGCCCCAAGTCACCTTGTTGAAGGTGGGTGTCAGGTCAGGCAACGAAGACATCTCCAGCCTCAGGGCCACAAGCTTGGGGCTGCCGGTGCCTCCTCCTCCTCCCGCCTGCCGCACCAGCCTCTCTGCCTCTCTCCGGCTGTCCCTGAGCTGGTCCAAAAGGCGCGAGCTGTCGGAGACCTGCTGAGCAGCCTGGGCTGACTGCTCGTAGGCTGTGCTCAGCATCCGGAAGGCTCCTGTGGCGAGAAGCATGAGGAATGGAGATGGAGGAGGAGCAGGAGGGAGAGGGGGTGGCATGCCCACCACGGCAGTGCCCATGCCCGGGGTTATCCGGGTGCCCCTCTCCTCACCTGAAGGATCAGCACTGCTTATTTTTCAAACTGCTCCCTCTTCCTCTGATACATAGTAAGGAGACCATTGAAGCTTCTGTCAAGACTCTCCAGGTCTCTCGGAAGGGACAACGTCTCCTCCTCCAGGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCAGAGCAACTGCTACTGAGTCAGAACAAACAGAGACCTTGGGCAAAGGCAACAGAACAGAGAATCCACAGGCTAAGGGGGTTCCGCTGGACAGAGGCTTGGCGACCAGCACAATCTTTCTCTGTCCAGGTGCAGATGGAGCCACAAAACTCTCCTCCCTTGACTTCTATGACCCAACATTCCCAATTCTCCTCCCCCTCTTCCAGATCCTGGCTTCCATGAGGAGCAATGCCCTGATGCCCTCCTCCTTCGCTCTCTATGGGCTGGCTTCAGCTACCATCTGTACAGCTGCAGCTCCAAAATCTCTTCCACAGTCCACACCTCCCACTCAGCTCCAGATCCCATCACTGCTGCCAGCTGGTCATCCCCCCGAAGGAGGCTCAGAGTCTACCTCCCAGGCCCTTGGCCACTGAGCTCTTGGAGAGTCCTCTCTCCCTGTGCCCTTTGCAGCTCCACCAACCCAACCACCAGCTCCCTCCTCCAAGCCTCACATTCTCCACCTCCAGGCTTTGATCAGGCACAGAACGCCCTTCCATGGAATGCCCCTCCATGCCTGTGTTTCCAACCTACTGAATCTGGTGGACTGACTGCCCGAATCTGAGACTTAGGTCAGAAGGCACCTCTGTGAAGCCTGCCATGACACATTATAACATGCGTCACATTATAGTTTACCATTTACACATCATTCTCCCCAGTGCGAGCTTCTTGAGCGCAAAGATTATGTCATACTAATTTCAATATCCCCAATGCCTGTACAATGCTTGTTTCATCATAGATGCTCTAAAATTATGTAAAGAGAAAGAAAGAGAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAAAGGGAAGGAAGGAAGGAAGGAAAAAAGAAGGAAAAGAAGGAAGGAAGGAAGGTAGGTTGGTTTTCAATATTCGCTTGAGTTCCTCTCCCGGAGCCCCCAGCCAGAAGCTCTAGCACATCGTGAGTCACGGAGCCTCCATTTTCATTCTTCTCAGGCTGCCTTTTCCTTCCCCACCACTCACACACCTGGATGGCTCTGTGCACAGTCAGAAAGCCAGTGCTCAGGGAATGCAAACTAATTATAGAAGCTTCCAGAACTGAACCTCACTAAGAAGGCACCTCTGCTGGTGGGATGGGGGTGTGGGCGGGACCAACTTCCATTCCAAAGCCACACGTGAGTTATTTTTAGAGCCCCTGCCTCTCGGATGCCCTCCGCCAGGGTGACTAATCCAGAGCTGACTCTCTCCCACAGGCAGCACTGGGCACTTAAAAGAACGCTGGGCTTGGGCTCCTGGACTGTGTTCTGAGGCCCAGCTCTGCCCTTCGGTGGTCATGTGGCTCTGTCACATCACCTGTCTGTGCCTGTTTTCTCATCTGCAAAACCACACCAGCCTCACAGGACTGTTGTAATGGTTGAAAGAGAGAGCACTGTGAAAATGCCTTTAAACTGTAATGCACTGTACAAATGTAAGGAAGGACCAGCATGCCCGGTACTGGAACCCCTGGAGCATAATTCTTGCAAATGCTTGGCAGGGAAAGGGAATTACCTGAGGGAGAGGATGGCACTGGCCACCTGAGCCACCTCCTGCTCTGTGACTGCGGGGCTGCTGAGAACTGCTCGGATCTGCTCAATCTTACTCTTTGCATCTAGGATCCGGGAGGCCAGGCCACGGTCCTCCAGCCCAGGCCCTGACCACAGGCTGGCGGTGGCATTGCGGAGTCTACCAAAGCGCAGGGCCTGCTCCCGGAGGTCCGCATCATAGGTCTGGAAGCAAGGGTGGCAGGCCACGCACACCGGGTAGCGATTN
|
pathogenic
| 21,227
|
Variant on chromosome 1, at position 209623965, affecting LAMB3 (laminin subunit beta 3): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz']
|
TTCTAGTGGAGTGACAATCCACTTGTTGACAACTGAATGAGGGTGAGTAGTGCAAGGAAAGTAAGATGATGGGGGACAAACAGATCGGATGGTCAGGAAACACCTCTCTGGGGAGATGACCCAGAGGACAAGAAGCAGCAGCCCTGGAAAGAGGACTTCAGGCAGACAAAGAGCAAATAAACATCCCTGAAGCAGGCAAGAGCCTGACATGTTCAAGGACAGCCAGTGAACAAAGCAGAGAAGAGCCCAAGGTCACTCCCAAGAGATGGACAGAGGCCAGGCTCTGTAGCCACGATGGGAGTTGAGAGCTCATTCCAAGAACAAGGTGAAGCCACTGAAGGATTTTAAGCAGGAGTGAGATGTGATCTGACTTATGCATTTTAAAAGAGATATTTCAGCTGTTGTGTTGAGAATGAGAATGGGTCACAAGGGATTGGAGTGGGTGGGGAGGGCAGACGGGAGAACGAGAAGGTCATGGCCATGGTGCCAAGGAGAAGTGGAGGCCTGGATGTTGCAGGCCTGGGACTAGGGAGGGAGGGCTGGCTGATGCACTGAACATGGGAATGCGGGACAGGCAGGACTGGAACAGCAGCCAAGGTGGGGTGGAGACTGGGCTCACCTGTTAGGAAGTCCCGGACCTGCTGGATTAGGAGCCGTGTGCGTCTGACATCTTCCTCCATCTGGGAGCGGCTGGCGCTCACCTGGGTCTCCAAGCGCTGGGCACTGGATTGAATCTGTGAGGCAGATTCCTCGGCTGCCCTAATCTGTTGACATACACTCTAGGTCAGAAGGGGTAAGGCCCCAAGGGAACCTCTCAGCAGCCCCACGATTCTGCGGATCATCCTCTATGCCAAGACCTACCTAGGAAGCATTTGTAACCAACCCAGCTTACATGTGGATGTTCAGTAAAAGAGAAAAAAAACTATCTTGCACTTGCTGTGGCACCTTAAGCAGGTCACCTAAAATCTCTGGACTTTAGTGTAAAATGGGAACTCTGACTTGCCCGGGGGATCTATCCTGTCTGCCTCCTCCTACCTGTGCCCACCCCGCCTCGGCTGCACTTACCATCTGCCTGGTCCGCTGGAGCTGGGCATTGAAGCCCCGCAGCTGCTCAGCCACCTGCCCCGCCATCAAGAAGGCCCCACCGGCCCTGGGAAGGACACCCCTGCAGCGGGAGCCACAGGCTGTGCCATTGTCTTGGGGACATAGCTCACCAGGGCATGATATTGGGGTGCAAGCCATCTGCCTGGAGTTGCCACAGAGCTGTGGACAGATGGCGGTGTTAAAGAGGCTACCCAAAGCCCCTCAATAACCAATCCCACCCCACACCTGGGAAACCAACAGCCAGACATCTCCATGACAACCAAGCACCAGAAACAGCCAGACATCTCCATGAGAGCTAAGGACCAGAAACTGGTTTCCTTGGCAACCACTGAGCTCACAGTGAGCAGTACAAGGGTCGGGATGGCTGGGGGAGTGGGGTTCTCACAGGGGCAGATCTGCCCTAATAGGAAGCAGGTGGCAGCAGTTGGTGTGTGACAAGCTGGGGTGTGGGCTCCAGGAAGTGGGACTCCATGCCCCAAGTCACCTTGTTGAAGGTGGGTGTCAGGTCAGGCAACGAAGACATCTCCAGCCTCAGGGCCACAAGCTTGGGGCTGCCGGTGCCTCCTCCTCCTCCCGCCTGCCGCACCAGCCTCTCTGCCTCTCTCCGGCTGTCCCTGAGCTGGTCCAAAAGGCGCGAGCTGTCGGAGACCTGCTGAGCAGCCTGGGCTGACTGCTCGTAGGCTGTGCTCAGCATCCGGAAGGCTCCTGTGGCGAGAAGCATGAGGAATGGAGATGGAGGAGGAGCAGGAGGGAGAGGGGGTGGCATGCCCACCACGGCAGTGCCCATGCCCGGGGTTATCCGGGTGCCCCTCTCCTCACCTGAAGGATCAGCACTGCTTATTTTTTCAAACTGCTCCCTCTTCCTCTGATACATAGTAAGGAGACCATTGAAGCTTCTGTCAAGACTCTCCAGGTCTCTCGGAAGGGACAACGTCTCCTCCTCCAGGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCAGAGCAACTGCTACTGAGTCAGAACAAACAGAGACCTTGGGCAAAGGCAACAGAACAGAGAATCCACAGGCTAAGGGGGTTCCGCTGGACAGAGGCTTGGCGACCAGCACAATCTTTCTCTGTCCAGGTGCAGATGGAGCCACAAAACTCTCCTCCCTTGACTTCTATGACCCAACATTCCCAATTCTCCTCCCCCTCTTCCAGATCCTGGCTTCCATGAGGAGCAATGCCCTGATGCCCTCCTCCTTCGCTCTCTATGGGCTGGCTTCAGCTACCATCTGTACAGCTGCAGCTCCAAAATCTCTTCCACAGTCCACACCTCCCACTCAGCTCCAGATCCCATCACTGCTGCCAGCTGGTCATCCCCCCGAAGGAGGCTCAGAGTCTACCTCCCAGGCCCTTGGCCACTGAGCTCTTGGAGAGTCCTCTCTCCCTGTGCCCTTTGCAGCTCCACCAACCCAACCACCAGCTCCCTCCTCCAAGCCTCACATTCTCCACCTCCAGGCTTTGATCAGGCACAGAACGCCCTTCCATGGAATGCCCCTCCATGCCTGTGTTTCCAACCTACTGAATCTGGTGGACTGACTGCCCGAATCTGAGACTTAGGTCAGAAGGCACCTCTGTGAAGCCTGCCATGACACATTATAACATGCGTCACATTATAGTTTACCATTTACACATCATTCTCCCCAGTGCGAGCTTCTTGAGCGCAAAGATTATGTCATACTAATTTCAATATCCCCAATGCCTGTACAATGCTTGTTTCATCATAGATGCTCTAAAATTATGTAAAGAGAAAGAAAGAGAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAAAGGGAAGGAAGGAAGGAAGGAAAAAAGAAGGAAAAGAAGGAAGGAAGGAAGGTAGGTTGGTTTTCAATATTCGCTTGAGTTCCTCTCCCGGAGCCCCCAGCCAGAAGCTCTAGCACATCGTGAGTCACGGAGCCTCCATTTTCATTCTTCTCAGGCTGCCTTTTCCTTCCCCACCACTCACACACCTGGATGGCTCTGTGCACAGTCAGAAAGCCAGTGCTCAGGGAATGCAAACTAATTATAGAAGCTTCCAGAACTGAACCTCACTAAGAAGGCACCTCTGCTGGTGGGATGGGGGTGTGGGCGGGACCAACTTCCATTCCAAAGCCACACGTGAGTTATTTTTAGAGCCCCTGCCTCTCGGATGCCCTCCGCCAGGGTGACTAATCCAGAGCTGACTCTCTCCCACAGGCAGCACTGGGCACTTAAAAGAACGCTGGGCTTGGGCTCCTGGACTGTGTTCTGAGGCCCAGCTCTGCCCTTCGGTGGTCATGTGGCTCTGTCACATCACCTGTCTGTGCCTGTTTTCTCATCTGCAAAACCACACCAGCCTCACAGGACTGTTGTAATGGTTGAAAGAGAGAGCACTGTGAAAATGCCTTTAAACTGTAATGCACTGTACAAATGTAAGGAAGGACCAGCATGCCCGGTACTGGAACCCCTGGAGCATAATTCTTGCAAATGCTTGGCAGGGAAAGGGAATTACCTGAGGGAGAGGATGGCACTGGCCACCTGAGCCACCTCCTGCTCTGTGACTGCGGGGCTGCTGAGAACTGCTCGGATCTGCTCAATCTTACTCTTTGCATCTAGGATCCGGGAGGCCAGGCCACGGTCCTCCAGCCCAGGCCCTGACCACAGGCTGGCGGTGGCATTGCGGAGTCTACCAAAGCGCAGGGCCTGCTCCCGGAGGTCCGCATCATAGGTCTGGAAGCAAGGGTGGCAGGCCACGCACACCGGGTAGCGATTACAGTAGCCTCGCTGGCACTGGTCACAGCGGGGCCCGGTCAAGCCAGGGCGGCAGAGGCAGCGGCCTGATGCCTTGTCGCAGCCCGGGCCCTCTGTTCCCCGGAA
|
TTCTAGTGGAGTGACAATCCACTTGTTGACAACTGAATGAGGGTGAGTAGTGCAAGGAAAGTAAGATGATGGGGGACAAACAGATCGGATGGTCAGGAAACACCTCTCTGGGGAGATGACCCAGAGGACAAGAAGCAGCAGCCCTGGAAAGAGGACTTCAGGCAGACAAAGAGCAAATAAACATCCCTGAAGCAGGCAAGAGCCTGACATGTTCAAGGACAGCCAGTGAACAAAGCAGAGAAGAGCCCAAGGTCACTCCCAAGAGATGGACAGAGGCCAGGCTCTGTAGCCACGATGGGAGTTGAGAGCTCATTCCAAGAACAAGGTGAAGCCACTGAAGGATTTTAAGCAGGAGTGAGATGTGATCTGACTTATGCATTTTAAAAGAGATATTTCAGCTGTTGTGTTGAGAATGAGAATGGGTCACAAGGGATTGGAGTGGGTGGGGAGGGCAGACGGGAGAACGAGAAGGTCATGGCCATGGTGCCAAGGAGAAGTGGAGGCCTGGATGTTGCAGGCCTGGGACTAGGGAGGGAGGGCTGGCTGATGCACTGAACATGGGAATGCGGGACAGGCAGGACTGGAACAGCAGCCAAGGTGGGGTGGAGACTGGGCTCACCTGTTAGGAAGTCCCGGACCTGCTGGATTAGGAGCCGTGTGCGTCTGACATCTTCCTCCATCTGGGAGCGGCTGGCGCTCACCTGGGTCTCCAAGCGCTGGGCACTGGATTGAATCTGTGAGGCAGATTCCTCGGCTGCCCTAATCTGTTGACATACACTCTAGGTCAGAAGGGGTAAGGCCCCAAGGGAACCTCTCAGCAGCCCCACGATTCTGCGGATCATCCTCTATGCCAAGACCTACCTAGGAAGCATTTGTAACCAACCCAGCTTACATGTGGATGTTCAGTAAAAGAGAAAAAAAACTATCTTGCACTTGCTGTGGCACCTTAAGCAGGTCACCTAAAATCTCTGGACTTTAGTGTAAAATGGGAACTCTGACTTGCCCGGGGGATCTATCCTGTCTGCCTCCTCCTACCTGTGCCCACCCCGCCTCGGCTGCACTTACCATCTGCCTGGTCCGCTGGAGCTGGGCATTGAAGCCCCGCAGCTGCTCAGCCACCTGCCCCGCCATCAAGAAGGCCCCACCGGCCCTGGGAAGGACACCCCTGCAGCGGGAGCCACAGGCTGTGCCATTGTCTTGGGGACATAGCTCACCAGGGCATGATATTGGGGTGCAAGCCATCTGCCTGGAGTTGCCACAGAGCTGTGGACAGATGGCGGTGTTAAAGAGGCTACCCAAAGCCCCTCAATAACCAATCCCACCCCACACCTGGGAAACCAACAGCCAGACATCTCCATGACAACCAAGCACCAGAAACAGCCAGACATCTCCATGAGAGCTAAGGACCAGAAACTGGTTTCCTTGGCAACCACTGAGCTCACAGTGAGCAGTACAAGGGTCGGGATGGCTGGGGGAGTGGGGTTCTCACAGGGGCAGATCTGCCCTAATAGGAAGCAGGTGGCAGCAGTTGGTGTGTGACAAGCTGGGGTGTGGGCTCCAGGAAGTGGGACTCCATGCCCCAAGTCACCTTGTTGAAGGTGGGTGTCAGGTCAGGCAACGAAGACATCTCCAGCCTCAGGGCCACAAGCTTGGGGCTGCCGGTGCCTCCTCCTCCTCCCGCCTGCCGCACCAGCCTCTCTGCCTCTCTCCGGCTGTCCCTGAGCTGGTCCAAAAGGCGCGAGCTGTCGGAGACCTGCTGAGCAGCCTGGGCTGACTGCTCGTAGGCTGTGCTCAGCATCCGGAAGGCTCCTGTGGCGAGAAGCATGAGGAATGGAGATGGAGGAGGAGCAGGAGGGAGAGGGGGTGGCATGCCCACCACGGCAGTGCCCATGCCCGGGGTTATCCGGGTGCCCCTCTCCTCACCTGAAGGATCAGCACTGCTTATTTTTTCAAACTGCTCCCTCTTCCTCTGATACATAGTAAGGAGACCATTGAAGCTTCTGTCAAGACTCTCCAGGTCTCTCGGAAGGGACAACGTCTCCTCCTCCAGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCAGAGCAACTGCTACTGAGTCAGAACAAACAGAGACCTTGGGCAAAGGCAACAGAACAGAGAATCCACAGGCTAAGGGGGTTCCGCTGGACAGAGGCTTGGCGACCAGCACAATCTTTCTCTGTCCAGGTGCAGATGGAGCCACAAAACTCTCCTCCCTTGACTTCTATGACCCAACATTCCCAATTCTCCTCCCCCTCTTCCAGATCCTGGCTTCCATGAGGAGCAATGCCCTGATGCCCTCCTCCTTCGCTCTCTATGGGCTGGCTTCAGCTACCATCTGTACAGCTGCAGCTCCAAAATCTCTTCCACAGTCCACACCTCCCACTCAGCTCCAGATCCCATCACTGCTGCCAGCTGGTCATCCCCCCGAAGGAGGCTCAGAGTCTACCTCCCAGGCCCTTGGCCACTGAGCTCTTGGAGAGTCCTCTCTCCCTGTGCCCTTTGCAGCTCCACCAACCCAACCACCAGCTCCCTCCTCCAAGCCTCACATTCTCCACCTCCAGGCTTTGATCAGGCACAGAACGCCCTTCCATGGAATGCCCCTCCATGCCTGTGTTTCCAACCTACTGAATCTGGTGGACTGACTGCCCGAATCTGAGACTTAGGTCAGAAGGCACCTCTGTGAAGCCTGCCATGACACATTATAACATGCGTCACATTATAGTTTACCATTTACACATCATTCTCCCCAGTGCGAGCTTCTTGAGCGCAAAGATTATGTCATACTAATTTCAATATCCCCAATGCCTGTACAATGCTTGTTTCATCATAGATGCTCTAAAATTATGTAAAGAGAAAGAAAGAGAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAAAGGGAAGGAAGGAAGGAAGGAAAAAAGAAGGAAAAGAAGGAAGGAAGGAAGGTAGGTTGGTTTTCAATATTCGCTTGAGTTCCTCTCCCGGAGCCCCCAGCCAGAAGCTCTAGCACATCGTGAGTCACGGAGCCTCCATTTTCATTCTTCTCAGGCTGCCTTTTCCTTCCCCACCACTCACACACCTGGATGGCTCTGTGCACAGTCAGAAAGCCAGTGCTCAGGGAATGCAAACTAATTATAGAAGCTTCCAGAACTGAACCTCACTAAGAAGGCACCTCTGCTGGTGGGATGGGGGTGTGGGCGGGACCAACTTCCATTCCAAAGCCACACGTGAGTTATTTTTAGAGCCCCTGCCTCTCGGATGCCCTCCGCCAGGGTGACTAATCCAGAGCTGACTCTCTCCCACAGGCAGCACTGGGCACTTAAAAGAACGCTGGGCTTGGGCTCCTGGACTGTGTTCTGAGGCCCAGCTCTGCCCTTCGGTGGTCATGTGGCTCTGTCACATCACCTGTCTGTGCCTGTTTTCTCATCTGCAAAACCACACCAGCCTCACAGGACTGTTGTAATGGTTGAAAGAGAGAGCACTGTGAAAATGCCTTTAAACTGTAATGCACTGTACAAATGTAAGGAAGGACCAGCATGCCCGGTACTGGAACCCCTGGAGCATAATTCTTGCAAATGCTTGGCAGGGAAAGGGAATTACCTGAGGGAGAGGATGGCACTGGCCACCTGAGCCACCTCCTGCTCTGTGACTGCGGGGCTGCTGAGAACTGCTCGGATCTGCTCAATCTTACTCTTTGCATCTAGGATCCGGGAGGCCAGGCCACGGTCCTCCAGCCCAGGCCCTGACCACAGGCTGGCGGTGGCATTGCGGAGTCTACCAAAGCGCAGGGCCTGCTCCCGGAGGTCCGCATCATAGGTCTGGAAGCAAGGGTGGCAGGCCACGCACACCGGGTAGCGATTACAGTAGCCTCGCTGGCACTGGTCACAGCGGGGCCCGGTCAAGCCAGGGCGGCAGAGGCAGCGGCCTGATGCCTTGTCGCAGCCCGGGCCCTCTGTTCCCCGGAAN
|
pathogenic
| 21,229
|
The mutation impacting LAMB3 (laminin subunit beta 3) on chromosome 1 at position 209625800: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz']
|
GATGGAGGAGGAGCAGGAGGGAGAGGGGGTGGCATGCCCACCACGGCAGTGCCCATGCCCGGGGTTATCCGGGTGCCCCTCTCCTCACCTGAAGGATCAGCACTGCTTATTTTTTCAAACTGCTCCCTCTTCCTCTGATACATAGTAAGGAGACCATTGAAGCTTCTGTCAAGACTCTCCAGGTCTCTCGGAAGGGACAACGTCTCCTCCTCCAGGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCAGAGCAACTGCTACTGAGTCAGAACAAACAGAGACCTTGGGCAAAGGCAACAGAACAGAGAATCCACAGGCTAAGGGGGTTCCGCTGGACAGAGGCTTGGCGACCAGCACAATCTTTCTCTGTCCAGGTGCAGATGGAGCCACAAAACTCTCCTCCCTTGACTTCTATGACCCAACATTCCCAATTCTCCTCCCCCTCTTCCAGATCCTGGCTTCCATGAGGAGCAATGCCCTGATGCCCTCCTCCTTCGCTCTCTATGGGCTGGCTTCAGCTACCATCTGTACAGCTGCAGCTCCAAAATCTCTTCCACAGTCCACACCTCCCACTCAGCTCCAGATCCCATCACTGCTGCCAGCTGGTCATCCCCCCGAAGGAGGCTCAGAGTCTACCTCCCAGGCCCTTGGCCACTGAGCTCTTGGAGAGTCCTCTCTCCCTGTGCCCTTTGCAGCTCCACCAACCCAACCACCAGCTCCCTCCTCCAAGCCTCACATTCTCCACCTCCAGGCTTTGATCAGGCACAGAACGCCCTTCCATGGAATGCCCCTCCATGCCTGTGTTTCCAACCTACTGAATCTGGTGGACTGACTGCCCGAATCTGAGACTTAGGTCAGAAGGCACCTCTGTGAAGCCTGCCATGACACATTATAACATGCGTCACATTATAGTTTACCATTTACACATCATTCTCCCCAGTGCGAGCTTCTTGAGCGCAAAGATTATGTCATACTAATTTCAATATCCCCAATGCCTGTACAATGCTTGTTTCATCATAGATGCTCTAAAATTATGTAAAGAGAAAGAAAGAGAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAAAGGGAAGGAAGGAAGGAAGGAAAAAAGAAGGAAAAGAAGGAAGGAAGGAAGGTAGGTTGGTTTTCAATATTCGCTTGAGTTCCTCTCCCGGAGCCCCCAGCCAGAAGCTCTAGCACATCGTGAGTCACGGAGCCTCCATTTTCATTCTTCTCAGGCTGCCTTTTCCTTCCCCACCACTCACACACCTGGATGGCTCTGTGCACAGTCAGAAAGCCAGTGCTCAGGGAATGCAAACTAATTATAGAAGCTTCCAGAACTGAACCTCACTAAGAAGGCACCTCTGCTGGTGGGATGGGGGTGTGGGCGGGACCAACTTCCATTCCAAAGCCACACGTGAGTTATTTTTAGAGCCCCTGCCTCTCGGATGCCCTCCGCCAGGGTGACTAATCCAGAGCTGACTCTCTCCCACAGGCAGCACTGGGCACTTAAAAGAACGCTGGGCTTGGGCTCCTGGACTGTGTTCTGAGGCCCAGCTCTGCCCTTCGGTGGTCATGTGGCTCTGTCACATCACCTGTCTGTGCCTGTTTTCTCATCTGCAAAACCACACCAGCCTCACAGGACTGTTGTAATGGTTGAAAGAGAGAGCACTGTGAAAATGCCTTTAAACTGTAATGCACTGTACAAATGTAAGGAAGGACCAGCATGCCCGGTACTGGAACCCCTGGAGCATAATTCTTGCAAATGCTTGGCAGGGAAAGGGAATTACCTGAGGGAGAGGATGGCACTGGCCACCTGAGCCACCTCCTGCTCTGTGACTGCGGGGCTGCTGAGAACTGCTCGGATCTGCTCAATCTTACTCTTTGCATCTAGGATCCGGGAGGCCAGGCCACGGTCCTCCAGCCCAGGCCCTGACCACAGGCTGGCGGTGGCATTGCGGAGTCTACCAAAGCGCAGGGCCTGCTCCCGGAGGTCCGCATCATAGGTCTGGAAGCAAGGGTGGCAGGCCACGCACACCGGGTAGCGATTACAGTAGCCTCGCTGGCACTGGTCACAGCGGGGCCCGGTCAAGCCAGGGCGGCAGAGGCAGCGGCCTGATGCCTTGTCGCAGCCCGGGCCCTCTGTTCCCCGGAAATCACAGTCACAGGCTAGGGCCAAGAAAAATGACAGTCAGAGACAGGGGTCAGGGAGACAGAAGCAGCTGTCAGGGAGAGCCCTGAAGAGGAGGTCTGACCTGAGGCTCTTTCTACATGACTTAGAATAACAGAAGTCGCAGCCAGAATAAAAGCCATGGTAACAGCTGCAGTGAAAGCAAACGCTTACTTAGCACCTACCATGTGCCAGGCACCACTTAAAGTCACACACACACATTAACTCATTTGATCTTCACACCACTCTGGGAATTAGCACTCTTGTTTTCCCACTTTTTCTAGATGAGGCAACTGAGGGACAGAGAGGTTAAGTACAGCATGCCTCTTCCTCTAAGAAGGAAACCAAGTCTAAAGAGGGGAAGCAGCTCCCTCAAAGTCACTCAGTGAGGCAGGGGCAGAGCTGGGACCACAATCTGGTCTGCACACTCCAAGGCCTGTGCTCCTGTGGTGACATCAAACTGACTCCGTGGGAAACGACACCCTTTCCCCTTCAGGACTCACTTCCTCCATCTATGAAGAGGGAAGAAACAGCCTCCCCTCCTTGCTGCTGCCCTGGAGATGGCTTCTGGGAAATGCTCTCTCTCTCTCAGGGAAGTGGGGAGCAAAGCAACCAGCATGTCACGGGGACGCAGGAACAGCGGGCATAGGCCTGCCTCAGGGGCTTGGAGGCCATGCCAACAGGCCGGAGTGTGTGCACTCACAGGGCTGCCCAGGCCCACACCACATGCATCAGTACAGGACATCCTGCCCTGCTGCAGACCTACACGCCCCCACCATGTGCCCACCCGCGTGCTCGGCCCCCAGAGCCTCAGCGTCCCCCAGGCTTTGAGCATGCACCTCGGCATCCTGTGGCCACGTCTCCATAGGTCCGGTCTGGACACTGGCGGATGGCTGCAGCGCTGCACATCAGGCCACCAAAGCCTTCCCGACAGGGGCACTGCCCTGTGAACTGCGTGGGGAGAGCACCGTCAGTGGACCCTGCCTCACAGCCTCTGCCTTACCCTGGTGTCAGGGACTGTGTCCTAGATTCCTGGTCCACAGGTAGAATCCAGGGCTCATGGCCACCTCCAGAGCTGCTGTGCCCACAAAACAAGGGCTCCCACTCAGAGATGAGCCTTGAAGTCAAGGCCCAGCATAGGCCCTTCAGAAGGTGTGGTGCATATGGTATTACTGACGGCCAAGAGCCACAGAGGGAGGGACATCTGGTGACTTCCCCAAATGAGAACGGGGACAGAAGACGCCCAGTCTGACAGGGGAGAGGCCTAGAAGGGCAGCATGGAGGGGCAGCAGAGAGGCTGGTGCTCAGGACCCCCCTCCCACTGAGGGGGCCCCCGGACCACCCTCACTTCGTACCTGGTTGCACTGTGGGCTGAGGGAGTTGTGCGGGTCGCAGGCACACGGTTCACAGCCCTGGCCACTGGCCAGCTTCCAGTGGTAGGGAGCACACTGGTCACATTTGGGACCCACCACGTTGGGCAGACAAAGGCAGCGCCCACTCTCCTCGTCACACGGCATGTCCCTCCGGGACCCCAGGATGTTGCAGTCACAGCCTGCAGGAGGAGAGCTGCTGAGCTCAGGCAGACGCTCCATGAAAAACTCACCCCCAGAGGACACACATCCAGGGAGGGGCGCTGCCTGGGAAAAGAACTGGGCAGGGCCCTTCCCTGCAGATGACATGGCTGACTCACAGGACCCCTGCGCTGTCCCACCAGTTCCAGCCACCTGGCAGCTCAGCCGCCTGCCTGCCCACCCTCCATCTGGCTGACTCAGTCCCACCTTCCAACTCGGACGTGTGCTGCCACCTGCTGGAGGCCAGTG
|
GATGGAGGAGGAGCAGGAGGGAGAGGGGGTGGCATGCCCACCACGGCAGTGCCCATGCCCGGGGTTATCCGGGTGCCCCTCTCCTCACCTGAAGGATCAGCACTGCTTATTTTTTCAAACTGCTCCCTCTTCCTCTGATACATAGTAAGGAGACCATTGAAGCTTCTGTCAAGACTCTCCAGGTCTCTCGGAAGGGACAACGTCTCCTCCTCCAGGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCAGAGCAACTGCTACTGAGTCAGAACAAACAGAGACCTTGGGCAAAGGCAACAGAACAGAGAATCCACAGGCTAAGGGGGTTCCGCTGGACAGAGGCTTGGCGACCAGCACAATCTTTCTCTGTCCAGGTGCAGATGGAGCCACAAAACTCTCCTCCCTTGACTTCTATGACCCAACATTCCCAATTCTCCTCCCCCTCTTCCAGATCCTGGCTTCCATGAGGAGCAATGCCCTGATGCCCTCCTCCTTCGCTCTCTATGGGCTGGCTTCAGCTACCATCTGTACAGCTGCAGCTCCAAAATCTCTTCCACAGTCCACACCTCCCACTCAGCTCCAGATCCCATCACTGCTGCCAGCTGGTCATCCCCCCGAAGGAGGCTCAGAGTCTACCTCCCAGGCCCTTGGCCACTGAGCTCTTGGAGAGTCCTCTCTCCCTGTGCCCTTTGCAGCTCCACCAACCCAACCACCAGCTCCCTCCTCCAAGCCTCACATTCTCCACCTCCAGGCTTTGATCAGGCACAGAACGCCCTTCCATGGAATGCCCCTCCATGCCTGTGTTTCCAACCTACTGAATCTGGTGGACTGACTGCCCGAATCTGAGACTTAGGTCAGAAGGCACCTCTGTGAAGCCTGCCATGACACATTATAACATGCGTCACATTATAGTTTACCATTTACACATCATTCTCCCCAGTGCGAGCTTCTTGAGCGCAAAGATTATGTCATACTAATTTCAATATCCCCAATGCCTGTACAATGCTTGTTTCATCATAGATGCTCTAAAATTATGTAAAGAGAAAGAAAGAGAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAAAGGGAAGGAAGGAAGGAAGGAAAAAAGAAGGAAAAGAAGGAAGGAAGGAAGGTAGGTTGGTTTTCAATATTCGCTTGAGTTCCTCTCCCGGAGCCCCCAGCCAGAAGCTCTAGCACATCGTGAGTCACGGAGCCTCCATTTTCATTCTTCTCAGGCTGCCTTTTCCTTCCCCACCACTCACACACCTGGATGGCTCTGTGCACAGTCAGAAAGCCAGTGCTCAGGGAATGCAAACTAATTATAGAAGCTTCCAGAACTGAACCTCACTAAGAAGGCACCTCTGCTGGTGGGATGGGGGTGTGGGCGGGACCAACTTCCATTCCAAAGCCACACGTGAGTTATTTTTAGAGCCCCTGCCTCTCGGATGCCCTCCGCCAGGGTGACTAATCCAGAGCTGACTCTCTCCCACAGGCAGCACTGGGCACTTAAAAGAACGCTGGGCTTGGGCTCCTGGACTGTGTTCTGAGGCCCAGCTCTGCCCTTCGGTGGTCATGTGGCTCTGTCACATCACCTGTCTGTGCCTGTTTTCTCATCTGCAAAACCACACCAGCCTCACAGGACTGTTGTAATGGTTGAAAGAGAGAGCACTGTGAAAATGCCTTTAAACTGTAATGCACTGTACAAATGTAAGGAAGGACCAGCATGCCCGGTACTGGAACCCCTGGAGCATAATTCTTGCAAATGCTTGGCAGGGAAAGGGAATTACCTGAGGGAGAGGATGGCACTGGCCACCTGAGCCACCTCCTGCTCTGTGACTGCGGGGCTGCTGAGAACTGCTCGGATCTGCTCAATCTTACTCTTTGCATCTAGGATCCGGGAGGCCAGGCCACGGTCCTCCAGCCCAGGCCCTGACCACAGGCCTGGCGGTGGCATTGCGGAGTCTACCAAAGCGCAGGGCCTGCTCCCGGAGGTCCGCATCATAGGTCTGGAAGCAAGGGTGGCAGGCCACGCACACCGGGTAGCGATTACAGTAGCCTCGCTGGCACTGGTCACAGCGGGGCCCGGTCAAGCCAGGGCGGCAGAGGCAGCGGCCTGATGCCTTGTCGCAGCCCGGGCCCTCTGTTCCCCGGAAATCACAGTCACAGGCTAGGGCCAAGAAAAATGACAGTCAGAGACAGGGGTCAGGGAGACAGAAGCAGCTGTCAGGGAGAGCCCTGAAGAGGAGGTCTGACCTGAGGCTCTTTCTACATGACTTAGAATAACAGAAGTCGCAGCCAGAATAAAAGCCATGGTAACAGCTGCAGTGAAAGCAAACGCTTACTTAGCACCTACCATGTGCCAGGCACCACTTAAAGTCACACACACACATTAACTCATTTGATCTTCACACCACTCTGGGAATTAGCACTCTTGTTTTCCCACTTTTTCTAGATGAGGCAACTGAGGGACAGAGAGGTTAAGTACAGCATGCCTCTTCCTCTAAGAAGGAAACCAAGTCTAAAGAGGGGAAGCAGCTCCCTCAAAGTCACTCAGTGAGGCAGGGGCAGAGCTGGGACCACAATCTGGTCTGCACACTCCAAGGCCTGTGCTCCTGTGGTGACATCAAACTGACTCCGTGGGAAACGACACCCTTTCCCCTTCAGGACTCACTTCCTCCATCTATGAAGAGGGAAGAAACAGCCTCCCCTCCTTGCTGCTGCCCTGGAGATGGCTTCTGGGAAATGCTCTCTCTCTCTCAGGGAAGTGGGGAGCAAAGCAACCAGCATGTCACGGGGACGCAGGAACAGCGGGCATAGGCCTGCCTCAGGGGCTTGGAGGCCATGCCAACAGGCCGGAGTGTGTGCACTCACAGGGCTGCCCAGGCCCACACCACATGCATCAGTACAGGACATCCTGCCCTGCTGCAGACCTACACGCCCCCACCATGTGCCCACCCGCGTGCTCGGCCCCCAGAGCCTCAGCGTCCCCCAGGCTTTGAGCATGCACCTCGGCATCCTGTGGCCACGTCTCCATAGGTCCGGTCTGGACACTGGCGGATGGCTGCAGCGCTGCACATCAGGCCACCAAAGCCTTCCCGACAGGGGCACTGCCCTGTGAACTGCGTGGGGAGAGCACCGTCAGTGGACCCTGCCTCACAGCCTCTGCCTTACCCTGGTGTCAGGGACTGTGTCCTAGATTCCTGGTCCACAGGTAGAATCCAGGGCTCATGGCCACCTCCAGAGCTGCTGTGCCCACAAAACAAGGGCTCCCACTCAGAGATGAGCCTTGAAGTCAAGGCCCAGCATAGGCCCTTCAGAAGGTGTGGTGCATATGGTATTACTGACGGCCAAGAGCCACAGAGGGAGGGACATCTGGTGACTTCCCCAAATGAGAACGGGGACAGAAGACGCCCAGTCTGACAGGGGAGAGGCCTAGAAGGGCAGCATGGAGGGGCAGCAGAGAGGCTGGTGCTCAGGACCCCCCTCCCACTGAGGGGGCCCCCGGACCACCCTCACTTCGTACCTGGTTGCACTGTGGGCTGAGGGAGTTGTGCGGGTCGCAGGCACACGGTTCACAGCCCTGGCCACTGGCCAGCTTCCAGTGGTAGGGAGCACACTGGTCACATTTGGGACCCACCACGTTGGGCAGACAAAGGCAGCGCCCACTCTCCTCGTCACACGGCATGTCCCTCCGGGACCCCAGGATGTTGCAGTCACAGCCTGCAGGAGGAGAGCTGCTGAGCTCAGGCAGACGCTCCATGAAAAACTCACCCCCAGAGGACACACATCCAGGGAGGGGCGCTGCCTGGGAAAAGAACTGGGCAGGGCCCTTCCCTGCAGATGACATGGCTGACTCACAGGACCCCTGCGCTGTCCCACCAGTTCCAGCCACCTGGCAGCTCAGCCGCCTGCCTGCCCACCCTCCATCTGGCTGACTCAGTCCCACCTTCCAACTCGGACGTGTGCTGCCACCTGCTGGAGGCCAGT
|
pathogenic
| 21,235
|
Is chromosome 1, position 209625947, gene LAMB3 (laminin subunit beta 3) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz']
|
AGGAGACCATTGAAGCTTCTGTCAAGACTCTCCAGGTCTCTCGGAAGGGACAACGTCTCCTCCTCCAGGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCAGAGCAACTGCTACTGAGTCAGAACAAACAGAGACCTTGGGCAAAGGCAACAGAACAGAGAATCCACAGGCTAAGGGGGTTCCGCTGGACAGAGGCTTGGCGACCAGCACAATCTTTCTCTGTCCAGGTGCAGATGGAGCCACAAAACTCTCCTCCCTTGACTTCTATGACCCAACATTCCCAATTCTCCTCCCCCTCTTCCAGATCCTGGCTTCCATGAGGAGCAATGCCCTGATGCCCTCCTCCTTCGCTCTCTATGGGCTGGCTTCAGCTACCATCTGTACAGCTGCAGCTCCAAAATCTCTTCCACAGTCCACACCTCCCACTCAGCTCCAGATCCCATCACTGCTGCCAGCTGGTCATCCCCCCGAAGGAGGCTCAGAGTCTACCTCCCAGGCCCTTGGCCACTGAGCTCTTGGAGAGTCCTCTCTCCCTGTGCCCTTTGCAGCTCCACCAACCCAACCACCAGCTCCCTCCTCCAAGCCTCACATTCTCCACCTCCAGGCTTTGATCAGGCACAGAACGCCCTTCCATGGAATGCCCCTCCATGCCTGTGTTTCCAACCTACTGAATCTGGTGGACTGACTGCCCGAATCTGAGACTTAGGTCAGAAGGCACCTCTGTGAAGCCTGCCATGACACATTATAACATGCGTCACATTATAGTTTACCATTTACACATCATTCTCCCCAGTGCGAGCTTCTTGAGCGCAAAGATTATGTCATACTAATTTCAATATCCCCAATGCCTGTACAATGCTTGTTTCATCATAGATGCTCTAAAATTATGTAAAGAGAAAGAAAGAGAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAAAGGGAAGGAAGGAAGGAAGGAAAAAAGAAGGAAAAGAAGGAAGGAAGGAAGGTAGGTTGGTTTTCAATATTCGCTTGAGTTCCTCTCCCGGAGCCCCCAGCCAGAAGCTCTAGCACATCGTGAGTCACGGAGCCTCCATTTTCATTCTTCTCAGGCTGCCTTTTCCTTCCCCACCACTCACACACCTGGATGGCTCTGTGCACAGTCAGAAAGCCAGTGCTCAGGGAATGCAAACTAATTATAGAAGCTTCCAGAACTGAACCTCACTAAGAAGGCACCTCTGCTGGTGGGATGGGGGTGTGGGCGGGACCAACTTCCATTCCAAAGCCACACGTGAGTTATTTTTAGAGCCCCTGCCTCTCGGATGCCCTCCGCCAGGGTGACTAATCCAGAGCTGACTCTCTCCCACAGGCAGCACTGGGCACTTAAAAGAACGCTGGGCTTGGGCTCCTGGACTGTGTTCTGAGGCCCAGCTCTGCCCTTCGGTGGTCATGTGGCTCTGTCACATCACCTGTCTGTGCCTGTTTTCTCATCTGCAAAACCACACCAGCCTCACAGGACTGTTGTAATGGTTGAAAGAGAGAGCACTGTGAAAATGCCTTTAAACTGTAATGCACTGTACAAATGTAAGGAAGGACCAGCATGCCCGGTACTGGAACCCCTGGAGCATAATTCTTGCAAATGCTTGGCAGGGAAAGGGAATTACCTGAGGGAGAGGATGGCACTGGCCACCTGAGCCACCTCCTGCTCTGTGACTGCGGGGCTGCTGAGAACTGCTCGGATCTGCTCAATCTTACTCTTTGCATCTAGGATCCGGGAGGCCAGGCCACGGTCCTCCAGCCCAGGCCCTGACCACAGGCTGGCGGTGGCATTGCGGAGTCTACCAAAGCGCAGGGCCTGCTCCCGGAGGTCCGCATCATAGGTCTGGAAGCAAGGGTGGCAGGCCACGCACACCGGGTAGCGATTACAGTAGCCTCGCTGGCACTGGTCACAGCGGGGCCCGGTCAAGCCAGGGCGGCAGAGGCAGCGGCCTGATGCCTTGTCGCAGCCCGGGCCCTCTGTTCCCCGGAAATCACAGTCACAGGCTAGGGCCAAGAAAAATGACAGTCAGAGACAGGGGTCAGGGAGACAGAAGCAGCTGTCAGGGAGAGCCCTGAAGAGGAGGTCTGACCTGAGGCTCTTTCTACATGACTTAGAATAACAGAAGTCGCAGCCAGAATAAAAGCCATGGTAACAGCTGCAGTGAAAGCAAACGCTTACTTAGCACCTACCATGTGCCAGGCACCACTTAAAGTCACACACACACATTAACTCATTTGATCTTCACACCACTCTGGGAATTAGCACTCTTGTTTTCCCACTTTTTCTAGATGAGGCAACTGAGGGACAGAGAGGTTAAGTACAGCATGCCTCTTCCTCTAAGAAGGAAACCAAGTCTAAAGAGGGGAAGCAGCTCCCTCAAAGTCACTCAGTGAGGCAGGGGCAGAGCTGGGACCACAATCTGGTCTGCACACTCCAAGGCCTGTGCTCCTGTGGTGACATCAAACTGACTCCGTGGGAAACGACACCCTTTCCCCTTCAGGACTCACTTCCTCCATCTATGAAGAGGGAAGAAACAGCCTCCCCTCCTTGCTGCTGCCCTGGAGATGGCTTCTGGGAAATGCTCTCTCTCTCTCAGGGAAGTGGGGAGCAAAGCAACCAGCATGTCACGGGGACGCAGGAACAGCGGGCATAGGCCTGCCTCAGGGGCTTGGAGGCCATGCCAACAGGCCGGAGTGTGTGCACTCACAGGGCTGCCCAGGCCCACACCACATGCATCAGTACAGGACATCCTGCCCTGCTGCAGACCTACACGCCCCCACCATGTGCCCACCCGCGTGCTCGGCCCCCAGAGCCTCAGCGTCCCCCAGGCTTTGAGCATGCACCTCGGCATCCTGTGGCCACGTCTCCATAGGTCCGGTCTGGACACTGGCGGATGGCTGCAGCGCTGCACATCAGGCCACCAAAGCCTTCCCGACAGGGGCACTGCCCTGTGAACTGCGTGGGGAGAGCACCGTCAGTGGACCCTGCCTCACAGCCTCTGCCTTACCCTGGTGTCAGGGACTGTGTCCTAGATTCCTGGTCCACAGGTAGAATCCAGGGCTCATGGCCACCTCCAGAGCTGCTGTGCCCACAAAACAAGGGCTCCCACTCAGAGATGAGCCTTGAAGTCAAGGCCCAGCATAGGCCCTTCAGAAGGTGTGGTGCATATGGTATTACTGACGGCCAAGAGCCACAGAGGGAGGGACATCTGGTGACTTCCCCAAATGAGAACGGGGACAGAAGACGCCCAGTCTGACAGGGGAGAGGCCTAGAAGGGCAGCATGGAGGGGCAGCAGAGAGGCTGGTGCTCAGGACCCCCCTCCCACTGAGGGGGCCCCCGGACCACCCTCACTTCGTACCTGGTTGCACTGTGGGCTGAGGGAGTTGTGCGGGTCGCAGGCACACGGTTCACAGCCCTGGCCACTGGCCAGCTTCCAGTGGTAGGGAGCACACTGGTCACATTTGGGACCCACCACGTTGGGCAGACAAAGGCAGCGCCCACTCTCCTCGTCACACGGCATGTCCCTCCGGGACCCCAGGATGTTGCAGTCACAGCCTGCAGGAGGAGAGCTGCTGAGCTCAGGCAGACGCTCCATGAAAAACTCACCCCCAGAGGACACACATCCAGGGAGGGGCGCTGCCTGGGAAAAGAACTGGGCAGGGCCCTTCCCTGCAGATGACATGGCTGACTCACAGGACCCCTGCGCTGTCCCACCAGTTCCAGCCACCTGGCAGCTCAGCCGCCTGCCTGCCCACCCTCCATCTGGCTGACTCAGTCCCACCTTCCAACTCGGACGTGTGCTGCCACCTGCTGGAGGCCAGTGGCACAGCATCTGGCGCTGGGTAAGAGGGCAAGAAGTCCGGACTCCTGGCAAAGGCCCGGGCATACCCCCTCTGTCTACCCTGCAGTGGGATTTCCTCTGAAGAGAGCACAGTGAGCAGGGCAAGCCGTGGGTCTGGTGGCCCCATGC
|
AGGAGACCATTGAAGCTTCTGTCAAGACTCTCCAGGTCTCTCGGAAGGGACAACGTCTCCTCCTCCAGGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCAGAGCAACTGCTACTGAGTCAGAACAAACAGAGACCTTGGGCAAAGGCAACAGAACAGAGAATCCACAGGCTAAGGGGGTTCCGCTGGACAGAGGCTTGGCGACCAGCACAATCTTTCTCTGTCCAGGTGCAGATGGAGCCACAAAACTCTCCTCCCTTGACTTCTATGACCCAACATTCCCAATTCTCCTCCCCCTCTTCCAGATCCTGGCTTCCATGAGGAGCAATGCCCTGATGCCCTCCTCCTTCGCTCTCTATGGGCTGGCTTCAGCTACCATCTGTACAGCTGCAGCTCCAAAATCTCTTCCACAGTCCACACCTCCCACTCAGCTCCAGATCCCATCACTGCTGCCAGCTGGTCATCCCCCCGAAGGAGGCTCAGAGTCTACCTCCCAGGCCCTTGGCCACTGAGCTCTTGGAGAGTCCTCTCTCCCTGTGCCCTTTGCAGCTCCACCAACCCAACCACCAGCTCCCTCCTCCAAGCCTCACATTCTCCACCTCCAGGCTTTGATCAGGCACAGAACGCCCTTCCATGGAATGCCCCTCCATGCCTGTGTTTCCAACCTACTGAATCTGGTGGACTGACTGCCCGAATCTGAGACTTAGGTCAGAAGGCACCTCTGTGAAGCCTGCCATGACACATTATAACATGCGTCACATTATAGTTTACCATTTACACATCATTCTCCCCAGTGCGAGCTTCTTGAGCGCAAAGATTATGTCATACTAATTTCAATATCCCCAATGCCTGTACAATGCTTGTTTCATCATAGATGCTCTAAAATTATGTAAAGAGAAAGAAAGAGAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAAAGGGAAGGAAGGAAGGAAGGAAAAAAGAAGGAAAAGAAGGAAGGAAGGAAGGTAGGTTGGTTTTCAATATTCGCTTGAGTTCCTCTCCCGGAGCCCCCAGCCAGAAGCTCTAGCACATCGTGAGTCACGGAGCCTCCATTTTCATTCTTCTCAGGCTGCCTTTTCCTTCCCCACCACTCACACACCTGGATGGCTCTGTGCACAGTCAGAAAGCCAGTGCTCAGGGAATGCAAACTAATTATAGAAGCTTCCAGAACTGAACCTCACTAAGAAGGCACCTCTGCTGGTGGGATGGGGGTGTGGGCGGGACCAACTTCCATTCCAAAGCCACACGTGAGTTATTTTTAGAGCCCCTGCCTCTCGGATGCCCTCCGCCAGGGTGACTAATCCAGAGCTGACTCTCTCCCACAGGCAGCACTGGGCACTTAAAAGAACGCTGGGCTTGGGCTCCTGGACTGTGTTCTGAGGCCCAGCTCTGCCCTTCGGTGGTCATGTGGCTCTGTCACATCACCTGTCTGTGCCTGTTTTCTCATCTGCAAAACCACACCAGCCTCACAGGACTGTTGTAATGGTTGAAAGAGAGAGCACTGTGAAAATGCCTTTAAACTGTAATGCACTGTACAAATGTAAGGAAGGACCAGCATGCCCGGTACTGGAACCCCTGGAGCATAATTCTTGCAAATGCTTGGCAGGGAAAGGGAATTACCTGAGGGAGAGGATGGCACTGGCCACCTGAGCCACCTCCTGCTCTGTGACTGCGGGGCTGCTGAGAACTGCTCGGATCTGCTCAATCTTACTCTTTGCATCTAGGATCCGGGAGGCCAGGCCACGGTCCTCCAGCCCAGGCCCTGACCACAGGCTGGCGGTGGCATTGCGGAGTCTACCAAAGCGCAGGGCCTGCTCCCGGAGGTCCGCATCATAGGTCTGGAAGCAAGGGTGGCAGGCCACGCACACCGGGTAGCGATTACAGTAGCCTCGCTGGCACTGGTCACAGCGGGGCCCGGTCAGCCAGGGCGGCAGAGGCAGCGGCCTGATGCCTTGTCGCAGCCCGGGCCCTCTGTTCCCCGGAAATCACAGTCACAGGCTAGGGCCAAGAAAAATGACAGTCAGAGACAGGGGTCAGGGAGACAGAAGCAGCTGTCAGGGAGAGCCCTGAAGAGGAGGTCTGACCTGAGGCTCTTTCTACATGACTTAGAATAACAGAAGTCGCAGCCAGAATAAAAGCCATGGTAACAGCTGCAGTGAAAGCAAACGCTTACTTAGCACCTACCATGTGCCAGGCACCACTTAAAGTCACACACACACATTAACTCATTTGATCTTCACACCACTCTGGGAATTAGCACTCTTGTTTTCCCACTTTTTCTAGATGAGGCAACTGAGGGACAGAGAGGTTAAGTACAGCATGCCTCTTCCTCTAAGAAGGAAACCAAGTCTAAAGAGGGGAAGCAGCTCCCTCAAAGTCACTCAGTGAGGCAGGGGCAGAGCTGGGACCACAATCTGGTCTGCACACTCCAAGGCCTGTGCTCCTGTGGTGACATCAAACTGACTCCGTGGGAAACGACACCCTTTCCCCTTCAGGACTCACTTCCTCCATCTATGAAGAGGGAAGAAACAGCCTCCCCTCCTTGCTGCTGCCCTGGAGATGGCTTCTGGGAAATGCTCTCTCTCTCTCAGGGAAGTGGGGAGCAAAGCAACCAGCATGTCACGGGGACGCAGGAACAGCGGGCATAGGCCTGCCTCAGGGGCTTGGAGGCCATGCCAACAGGCCGGAGTGTGTGCACTCACAGGGCTGCCCAGGCCCACACCACATGCATCAGTACAGGACATCCTGCCCTGCTGCAGACCTACACGCCCCCACCATGTGCCCACCCGCGTGCTCGGCCCCCAGAGCCTCAGCGTCCCCCAGGCTTTGAGCATGCACCTCGGCATCCTGTGGCCACGTCTCCATAGGTCCGGTCTGGACACTGGCGGATGGCTGCAGCGCTGCACATCAGGCCACCAAAGCCTTCCCGACAGGGGCACTGCCCTGTGAACTGCGTGGGGAGAGCACCGTCAGTGGACCCTGCCTCACAGCCTCTGCCTTACCCTGGTGTCAGGGACTGTGTCCTAGATTCCTGGTCCACAGGTAGAATCCAGGGCTCATGGCCACCTCCAGAGCTGCTGTGCCCACAAAACAAGGGCTCCCACTCAGAGATGAGCCTTGAAGTCAAGGCCCAGCATAGGCCCTTCAGAAGGTGTGGTGCATATGGTATTACTGACGGCCAAGAGCCACAGAGGGAGGGACATCTGGTGACTTCCCCAAATGAGAACGGGGACAGAAGACGCCCAGTCTGACAGGGGAGAGGCCTAGAAGGGCAGCATGGAGGGGCAGCAGAGAGGCTGGTGCTCAGGACCCCCCTCCCACTGAGGGGGCCCCCGGACCACCCTCACTTCGTACCTGGTTGCACTGTGGGCTGAGGGAGTTGTGCGGGTCGCAGGCACACGGTTCACAGCCCTGGCCACTGGCCAGCTTCCAGTGGTAGGGAGCACACTGGTCACATTTGGGACCCACCACGTTGGGCAGACAAAGGCAGCGCCCACTCTCCTCGTCACACGGCATGTCCCTCCGGGACCCCAGGATGTTGCAGTCACAGCCTGCAGGAGGAGAGCTGCTGAGCTCAGGCAGACGCTCCATGAAAAACTCACCCCCAGAGGACACACATCCAGGGAGGGGCGCTGCCTGGGAAAAGAACTGGGCAGGGCCCTTCCCTGCAGATGACATGGCTGACTCACAGGACCCCTGCGCTGTCCCACCAGTTCCAGCCACCTGGCAGCTCAGCCGCCTGCCTGCCCACCCTCCATCTGGCTGACTCAGTCCCACCTTCCAACTCGGACGTGTGCTGCCACCTGCTGGAGGCCAGTGGCACAGCATCTGGCGCTGGGTAAGAGGGCAAGAAGTCCGGACTCCTGGCAAAGGCCCGGGCATACCCCCTCTGTCTACCCTGCAGTGGGATTTCCTCTGAAGAGAGCACAGTGAGCAGGGCAAGCCGTGGGTCTGGTGGCCCCATGCN
|
pathogenic
| 21,242
|
Gene mutation in LAMB3 (laminin subunit beta 3) at chromosome 1, position 209625995—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Junctional_epidermolysis_bullosa,_non-Herlitz_type']
|
GACAACGTCTCCTCCTCCAGGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCAGAGCAACTGCTACTGAGTCAGAACAAACAGAGACCTTGGGCAAAGGCAACAGAACAGAGAATCCACAGGCTAAGGGGGTTCCGCTGGACAGAGGCTTGGCGACCAGCACAATCTTTCTCTGTCCAGGTGCAGATGGAGCCACAAAACTCTCCTCCCTTGACTTCTATGACCCAACATTCCCAATTCTCCTCCCCCTCTTCCAGATCCTGGCTTCCATGAGGAGCAATGCCCTGATGCCCTCCTCCTTCGCTCTCTATGGGCTGGCTTCAGCTACCATCTGTACAGCTGCAGCTCCAAAATCTCTTCCACAGTCCACACCTCCCACTCAGCTCCAGATCCCATCACTGCTGCCAGCTGGTCATCCCCCCGAAGGAGGCTCAGAGTCTACCTCCCAGGCCCTTGGCCACTGAGCTCTTGGAGAGTCCTCTCTCCCTGTGCCCTTTGCAGCTCCACCAACCCAACCACCAGCTCCCTCCTCCAAGCCTCACATTCTCCACCTCCAGGCTTTGATCAGGCACAGAACGCCCTTCCATGGAATGCCCCTCCATGCCTGTGTTTCCAACCTACTGAATCTGGTGGACTGACTGCCCGAATCTGAGACTTAGGTCAGAAGGCACCTCTGTGAAGCCTGCCATGACACATTATAACATGCGTCACATTATAGTTTACCATTTACACATCATTCTCCCCAGTGCGAGCTTCTTGAGCGCAAAGATTATGTCATACTAATTTCAATATCCCCAATGCCTGTACAATGCTTGTTTCATCATAGATGCTCTAAAATTATGTAAAGAGAAAGAAAGAGAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAAAGGGAAGGAAGGAAGGAAGGAAAAAAGAAGGAAAAGAAGGAAGGAAGGAAGGTAGGTTGGTTTTCAATATTCGCTTGAGTTCCTCTCCCGGAGCCCCCAGCCAGAAGCTCTAGCACATCGTGAGTCACGGAGCCTCCATTTTCATTCTTCTCAGGCTGCCTTTTCCTTCCCCACCACTCACACACCTGGATGGCTCTGTGCACAGTCAGAAAGCCAGTGCTCAGGGAATGCAAACTAATTATAGAAGCTTCCAGAACTGAACCTCACTAAGAAGGCACCTCTGCTGGTGGGATGGGGGTGTGGGCGGGACCAACTTCCATTCCAAAGCCACACGTGAGTTATTTTTAGAGCCCCTGCCTCTCGGATGCCCTCCGCCAGGGTGACTAATCCAGAGCTGACTCTCTCCCACAGGCAGCACTGGGCACTTAAAAGAACGCTGGGCTTGGGCTCCTGGACTGTGTTCTGAGGCCCAGCTCTGCCCTTCGGTGGTCATGTGGCTCTGTCACATCACCTGTCTGTGCCTGTTTTCTCATCTGCAAAACCACACCAGCCTCACAGGACTGTTGTAATGGTTGAAAGAGAGAGCACTGTGAAAATGCCTTTAAACTGTAATGCACTGTACAAATGTAAGGAAGGACCAGCATGCCCGGTACTGGAACCCCTGGAGCATAATTCTTGCAAATGCTTGGCAGGGAAAGGGAATTACCTGAGGGAGAGGATGGCACTGGCCACCTGAGCCACCTCCTGCTCTGTGACTGCGGGGCTGCTGAGAACTGCTCGGATCTGCTCAATCTTACTCTTTGCATCTAGGATCCGGGAGGCCAGGCCACGGTCCTCCAGCCCAGGCCCTGACCACAGGCTGGCGGTGGCATTGCGGAGTCTACCAAAGCGCAGGGCCTGCTCCCGGAGGTCCGCATCATAGGTCTGGAAGCAAGGGTGGCAGGCCACGCACACCGGGTAGCGATTACAGTAGCCTCGCTGGCACTGGTCACAGCGGGGCCCGGTCAAGCCAGGGCGGCAGAGGCAGCGGCCTGATGCCTTGTCGCAGCCCGGGCCCTCTGTTCCCCGGAAATCACAGTCACAGGCTAGGGCCAAGAAAAATGACAGTCAGAGACAGGGGTCAGGGAGACAGAAGCAGCTGTCAGGGAGAGCCCTGAAGAGGAGGTCTGACCTGAGGCTCTTTCTACATGACTTAGAATAACAGAAGTCGCAGCCAGAATAAAAGCCATGGTAACAGCTGCAGTGAAAGCAAACGCTTACTTAGCACCTACCATGTGCCAGGCACCACTTAAAGTCACACACACACATTAACTCATTTGATCTTCACACCACTCTGGGAATTAGCACTCTTGTTTTCCCACTTTTTCTAGATGAGGCAACTGAGGGACAGAGAGGTTAAGTACAGCATGCCTCTTCCTCTAAGAAGGAAACCAAGTCTAAAGAGGGGAAGCAGCTCCCTCAAAGTCACTCAGTGAGGCAGGGGCAGAGCTGGGACCACAATCTGGTCTGCACACTCCAAGGCCTGTGCTCCTGTGGTGACATCAAACTGACTCCGTGGGAAACGACACCCTTTCCCCTTCAGGACTCACTTCCTCCATCTATGAAGAGGGAAGAAACAGCCTCCCCTCCTTGCTGCTGCCCTGGAGATGGCTTCTGGGAAATGCTCTCTCTCTCTCAGGGAAGTGGGGAGCAAAGCAACCAGCATGTCACGGGGACGCAGGAACAGCGGGCATAGGCCTGCCTCAGGGGCTTGGAGGCCATGCCAACAGGCCGGAGTGTGTGCACTCACAGGGCTGCCCAGGCCCACACCACATGCATCAGTACAGGACATCCTGCCCTGCTGCAGACCTACACGCCCCCACCATGTGCCCACCCGCGTGCTCGGCCCCCAGAGCCTCAGCGTCCCCCAGGCTTTGAGCATGCACCTCGGCATCCTGTGGCCACGTCTCCATAGGTCCGGTCTGGACACTGGCGGATGGCTGCAGCGCTGCACATCAGGCCACCAAAGCCTTCCCGACAGGGGCACTGCCCTGTGAACTGCGTGGGGAGAGCACCGTCAGTGGACCCTGCCTCACAGCCTCTGCCTTACCCTGGTGTCAGGGACTGTGTCCTAGATTCCTGGTCCACAGGTAGAATCCAGGGCTCATGGCCACCTCCAGAGCTGCTGTGCCCACAAAACAAGGGCTCCCACTCAGAGATGAGCCTTGAAGTCAAGGCCCAGCATAGGCCCTTCAGAAGGTGTGGTGCATATGGTATTACTGACGGCCAAGAGCCACAGAGGGAGGGACATCTGGTGACTTCCCCAAATGAGAACGGGGACAGAAGACGCCCAGTCTGACAGGGGAGAGGCCTAGAAGGGCAGCATGGAGGGGCAGCAGAGAGGCTGGTGCTCAGGACCCCCCTCCCACTGAGGGGGCCCCCGGACCACCCTCACTTCGTACCTGGTTGCACTGTGGGCTGAGGGAGTTGTGCGGGTCGCAGGCACACGGTTCACAGCCCTGGCCACTGGCCAGCTTCCAGTGGTAGGGAGCACACTGGTCACATTTGGGACCCACCACGTTGGGCAGACAAAGGCAGCGCCCACTCTCCTCGTCACACGGCATGTCCCTCCGGGACCCCAGGATGTTGCAGTCACAGCCTGCAGGAGGAGAGCTGCTGAGCTCAGGCAGACGCTCCATGAAAAACTCACCCCCAGAGGACACACATCCAGGGAGGGGCGCTGCCTGGGAAAAGAACTGGGCAGGGCCCTTCCCTGCAGATGACATGGCTGACTCACAGGACCCCTGCGCTGTCCCACCAGTTCCAGCCACCTGGCAGCTCAGCCGCCTGCCTGCCCACCCTCCATCTGGCTGACTCAGTCCCACCTTCCAACTCGGACGTGTGCTGCCACCTGCTGGAGGCCAGTGGCACAGCATCTGGCGCTGGGTAAGAGGGCAAGAAGTCCGGACTCCTGGCAAAGGCCCGGGCATACCCCCTCTGTCTACCCTGCAGTGGGATTTCCTCTGAAGAGAGCACAGTGAGCAGGGCAAGCCGTGGGTCTGGTGGCCCCATGCAGCCCACCCCACGTCATGCTGGGCCAAGCCCCCTACTCACGGTGGCAG
|
GACAACGTCTCCTCCTCCAGGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCAGAGCAACTGCTACTGAGTCAGAACAAACAGAGACCTTGGGCAAAGGCAACAGAACAGAGAATCCACAGGCTAAGGGGGTTCCGCTGGACAGAGGCTTGGCGACCAGCACAATCTTTCTCTGTCCAGGTGCAGATGGAGCCACAAAACTCTCCTCCCTTGACTTCTATGACCCAACATTCCCAATTCTCCTCCCCCTCTTCCAGATCCTGGCTTCCATGAGGAGCAATGCCCTGATGCCCTCCTCCTTCGCTCTCTATGGGCTGGCTTCAGCTACCATCTGTACAGCTGCAGCTCCAAAATCTCTTCCACAGTCCACACCTCCCACTCAGCTCCAGATCCCATCACTGCTGCCAGCTGGTCATCCCCCCGAAGGAGGCTCAGAGTCTACCTCCCAGGCCCTTGGCCACTGAGCTCTTGGAGAGTCCTCTCTCCCTGTGCCCTTTGCAGCTCCACCAACCCAACCACCAGCTCCCTCCTCCAAGCCTCACATTCTCCACCTCCAGGCTTTGATCAGGCACAGAACGCCCTTCCATGGAATGCCCCTCCATGCCTGTGTTTCCAACCTACTGAATCTGGTGGACTGACTGCCCGAATCTGAGACTTAGGTCAGAAGGCACCTCTGTGAAGCCTGCCATGACACATTATAACATGCGTCACATTATAGTTTACCATTTACACATCATTCTCCCCAGTGCGAGCTTCTTGAGCGCAAAGATTATGTCATACTAATTTCAATATCCCCAATGCCTGTACAATGCTTGTTTCATCATAGATGCTCTAAAATTATGTAAAGAGAAAGAAAGAGAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAAAGGGAAGGAAGGAAGGAAGGAAAAAAGAAGGAAAAGAAGGAAGGAAGGAAGGTAGGTTGGTTTTCAATATTCGCTTGAGTTCCTCTCCCGGAGCCCCCAGCCAGAAGCTCTAGCACATCGTGAGTCACGGAGCCTCCATTTTCATTCTTCTCAGGCTGCCTTTTCCTTCCCCACCACTCACACACCTGGATGGCTCTGTGCACAGTCAGAAAGCCAGTGCTCAGGGAATGCAAACTAATTATAGAAGCTTCCAGAACTGAACCTCACTAAGAAGGCACCTCTGCTGGTGGGATGGGGGTGTGGGCGGGACCAACTTCCATTCCAAAGCCACACGTGAGTTATTTTTAGAGCCCCTGCCTCTCGGATGCCCTCCGCCAGGGTGACTAATCCAGAGCTGACTCTCTCCCACAGGCAGCACTGGGCACTTAAAAGAACGCTGGGCTTGGGCTCCTGGACTGTGTTCTGAGGCCCAGCTCTGCCCTTCGGTGGTCATGTGGCTCTGTCACATCACCTGTCTGTGCCTGTTTTCTCATCTGCAAAACCACACCAGCCTCACAGGACTGTTGTAATGGTTGAAAGAGAGAGCACTGTGAAAATGCCTTTAAACTGTAATGCACTGTACAAATGTAAGGAAGGACCAGCATGCCCGGTACTGGAACCCCTGGAGCATAATTCTTGCAAATGCTTGGCAGGGAAAGGGAATTACCTGAGGGAGAGGATGGCACTGGCCACCTGAGCCACCTCCTGCTCTGTGACTGCGGGGCTGCTGAGAACTGCTCGGATCTGCTCAATCTTACTCTTTGCATCTAGGATCCGGGAGGCCAGGCCACGGTCCTCCAGCCCAGGCCCTGACCACAGGCTGGCGGTGGCATTGCGGAGTCTACCAAAGCGCAGGGCCTGCTCCCGGAGGTCCGCATCATAGGTCTGGAAGCAAGGGTGGCAGGCCACGCACACCGGGTAGCGATTACAGTAGCCTCGCTGGCACTGGTCACAGCGGGGCCCGGTCAAGCCAGGGCGGCAGAGGCAGCGGCCTGATGCCTTGTCGCAGCCCGGGCCCCTCTGTTCCCCGGAAATCACAGTCACAGGCTAGGGCCAAGAAAAATGACAGTCAGAGACAGGGGTCAGGGAGACAGAAGCAGCTGTCAGGGAGAGCCCTGAAGAGGAGGTCTGACCTGAGGCTCTTTCTACATGACTTAGAATAACAGAAGTCGCAGCCAGAATAAAAGCCATGGTAACAGCTGCAGTGAAAGCAAACGCTTACTTAGCACCTACCATGTGCCAGGCACCACTTAAAGTCACACACACACATTAACTCATTTGATCTTCACACCACTCTGGGAATTAGCACTCTTGTTTTCCCACTTTTTCTAGATGAGGCAACTGAGGGACAGAGAGGTTAAGTACAGCATGCCTCTTCCTCTAAGAAGGAAACCAAGTCTAAAGAGGGGAAGCAGCTCCCTCAAAGTCACTCAGTGAGGCAGGGGCAGAGCTGGGACCACAATCTGGTCTGCACACTCCAAGGCCTGTGCTCCTGTGGTGACATCAAACTGACTCCGTGGGAAACGACACCCTTTCCCCTTCAGGACTCACTTCCTCCATCTATGAAGAGGGAAGAAACAGCCTCCCCTCCTTGCTGCTGCCCTGGAGATGGCTTCTGGGAAATGCTCTCTCTCTCTCAGGGAAGTGGGGAGCAAAGCAACCAGCATGTCACGGGGACGCAGGAACAGCGGGCATAGGCCTGCCTCAGGGGCTTGGAGGCCATGCCAACAGGCCGGAGTGTGTGCACTCACAGGGCTGCCCAGGCCCACACCACATGCATCAGTACAGGACATCCTGCCCTGCTGCAGACCTACACGCCCCCACCATGTGCCCACCCGCGTGCTCGGCCCCCAGAGCCTCAGCGTCCCCCAGGCTTTGAGCATGCACCTCGGCATCCTGTGGCCACGTCTCCATAGGTCCGGTCTGGACACTGGCGGATGGCTGCAGCGCTGCACATCAGGCCACCAAAGCCTTCCCGACAGGGGCACTGCCCTGTGAACTGCGTGGGGAGAGCACCGTCAGTGGACCCTGCCTCACAGCCTCTGCCTTACCCTGGTGTCAGGGACTGTGTCCTAGATTCCTGGTCCACAGGTAGAATCCAGGGCTCATGGCCACCTCCAGAGCTGCTGTGCCCACAAAACAAGGGCTCCCACTCAGAGATGAGCCTTGAAGTCAAGGCCCAGCATAGGCCCTTCAGAAGGTGTGGTGCATATGGTATTACTGACGGCCAAGAGCCACAGAGGGAGGGACATCTGGTGACTTCCCCAAATGAGAACGGGGACAGAAGACGCCCAGTCTGACAGGGGAGAGGCCTAGAAGGGCAGCATGGAGGGGCAGCAGAGAGGCTGGTGCTCAGGACCCCCCTCCCACTGAGGGGGCCCCCGGACCACCCTCACTTCGTACCTGGTTGCACTGTGGGCTGAGGGAGTTGTGCGGGTCGCAGGCACACGGTTCACAGCCCTGGCCACTGGCCAGCTTCCAGTGGTAGGGAGCACACTGGTCACATTTGGGACCCACCACGTTGGGCAGACAAAGGCAGCGCCCACTCTCCTCGTCACACGGCATGTCCCTCCGGGACCCCAGGATGTTGCAGTCACAGCCTGCAGGAGGAGAGCTGCTGAGCTCAGGCAGACGCTCCATGAAAAACTCACCCCCAGAGGACACACATCCAGGGAGGGGCGCTGCCTGGGAAAAGAACTGGGCAGGGCCCTTCCCTGCAGATGACATGGCTGACTCACAGGACCCCTGCGCTGTCCCACCAGTTCCAGCCACCTGGCAGCTCAGCCGCCTGCCTGCCCACCCTCCATCTGGCTGACTCAGTCCCACCTTCCAACTCGGACGTGTGCTGCCACCTGCTGGAGGCCAGTGGCACAGCATCTGGCGCTGGGTAAGAGGGCAAGAAGTCCGGACTCCTGGCAAAGGCCCGGGCATACCCCCTCTGTCTACCCTGCAGTGGGATTTCCTCTGAAGAGAGCACAGTGAGCAGGGCAAGCCGTGGGTCTGGTGGCCCCATGCAGCCCACCCCACGTCATGCTGGGCCAAGCCCCCTACTCACGGTGGCA
|
pathogenic
| 21,243
|
A mutation at chromosome position 209626875 on chromosome 1 in gene LAMB3 (laminin subunit beta 3): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz']
|
TGCTTGTTTCATCATAGATGCTCTAAAATTATGTAAAGAGAAAGAAAGAGAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAAAGGGAAGGAAGGAAGGAAGGAAAAAAGAAGGAAAAGAAGGAAGGAAGGAAGGTAGGTTGGTTTTCAATATTCGCTTGAGTTCCTCTCCCGGAGCCCCCAGCCAGAAGCTCTAGCACATCGTGAGTCACGGAGCCTCCATTTTCATTCTTCTCAGGCTGCCTTTTCCTTCCCCACCACTCACACACCTGGATGGCTCTGTGCACAGTCAGAAAGCCAGTGCTCAGGGAATGCAAACTAATTATAGAAGCTTCCAGAACTGAACCTCACTAAGAAGGCACCTCTGCTGGTGGGATGGGGGTGTGGGCGGGACCAACTTCCATTCCAAAGCCACACGTGAGTTATTTTTAGAGCCCCTGCCTCTCGGATGCCCTCCGCCAGGGTGACTAATCCAGAGCTGACTCTCTCCCACAGGCAGCACTGGGCACTTAAAAGAACGCTGGGCTTGGGCTCCTGGACTGTGTTCTGAGGCCCAGCTCTGCCCTTCGGTGGTCATGTGGCTCTGTCACATCACCTGTCTGTGCCTGTTTTCTCATCTGCAAAACCACACCAGCCTCACAGGACTGTTGTAATGGTTGAAAGAGAGAGCACTGTGAAAATGCCTTTAAACTGTAATGCACTGTACAAATGTAAGGAAGGACCAGCATGCCCGGTACTGGAACCCCTGGAGCATAATTCTTGCAAATGCTTGGCAGGGAAAGGGAATTACCTGAGGGAGAGGATGGCACTGGCCACCTGAGCCACCTCCTGCTCTGTGACTGCGGGGCTGCTGAGAACTGCTCGGATCTGCTCAATCTTACTCTTTGCATCTAGGATCCGGGAGGCCAGGCCACGGTCCTCCAGCCCAGGCCCTGACCACAGGCTGGCGGTGGCATTGCGGAGTCTACCAAAGCGCAGGGCCTGCTCCCGGAGGTCCGCATCATAGGTCTGGAAGCAAGGGTGGCAGGCCACGCACACCGGGTAGCGATTACAGTAGCCTCGCTGGCACTGGTCACAGCGGGGCCCGGTCAAGCCAGGGCGGCAGAGGCAGCGGCCTGATGCCTTGTCGCAGCCCGGGCCCTCTGTTCCCCGGAAATCACAGTCACAGGCTAGGGCCAAGAAAAATGACAGTCAGAGACAGGGGTCAGGGAGACAGAAGCAGCTGTCAGGGAGAGCCCTGAAGAGGAGGTCTGACCTGAGGCTCTTTCTACATGACTTAGAATAACAGAAGTCGCAGCCAGAATAAAAGCCATGGTAACAGCTGCAGTGAAAGCAAACGCTTACTTAGCACCTACCATGTGCCAGGCACCACTTAAAGTCACACACACACATTAACTCATTTGATCTTCACACCACTCTGGGAATTAGCACTCTTGTTTTCCCACTTTTTCTAGATGAGGCAACTGAGGGACAGAGAGGTTAAGTACAGCATGCCTCTTCCTCTAAGAAGGAAACCAAGTCTAAAGAGGGGAAGCAGCTCCCTCAAAGTCACTCAGTGAGGCAGGGGCAGAGCTGGGACCACAATCTGGTCTGCACACTCCAAGGCCTGTGCTCCTGTGGTGACATCAAACTGACTCCGTGGGAAACGACACCCTTTCCCCTTCAGGACTCACTTCCTCCATCTATGAAGAGGGAAGAAACAGCCTCCCCTCCTTGCTGCTGCCCTGGAGATGGCTTCTGGGAAATGCTCTCTCTCTCTCAGGGAAGTGGGGAGCAAAGCAACCAGCATGTCACGGGGACGCAGGAACAGCGGGCATAGGCCTGCCTCAGGGGCTTGGAGGCCATGCCAACAGGCCGGAGTGTGTGCACTCACAGGGCTGCCCAGGCCCACACCACATGCATCAGTACAGGACATCCTGCCCTGCTGCAGACCTACACGCCCCCACCATGTGCCCACCCGCGTGCTCGGCCCCCAGAGCCTCAGCGTCCCCCAGGCTTTGAGCATGCACCTCGGCATCCTGTGGCCACGTCTCCATAGGTCCGGTCTGGACACTGGCGGATGGCTGCAGCGCTGCACATCAGGCCACCAAAGCCTTCCCGACAGGGGCACTGCCCTGTGAACTGCGTGGGGAGAGCACCGTCAGTGGACCCTGCCTCACAGCCTCTGCCTTACCCTGGTGTCAGGGACTGTGTCCTAGATTCCTGGTCCACAGGTAGAATCCAGGGCTCATGGCCACCTCCAGAGCTGCTGTGCCCACAAAACAAGGGCTCCCACTCAGAGATGAGCCTTGAAGTCAAGGCCCAGCATAGGCCCTTCAGAAGGTGTGGTGCATATGGTATTACTGACGGCCAAGAGCCACAGAGGGAGGGACATCTGGTGACTTCCCCAAATGAGAACGGGGACAGAAGACGCCCAGTCTGACAGGGGAGAGGCCTAGAAGGGCAGCATGGAGGGGCAGCAGAGAGGCTGGTGCTCAGGACCCCCCTCCCACTGAGGGGGCCCCCGGACCACCCTCACTTCGTACCTGGTTGCACTGTGGGCTGAGGGAGTTGTGCGGGTCGCAGGCACACGGTTCACAGCCCTGGCCACTGGCCAGCTTCCAGTGGTAGGGAGCACACTGGTCACATTTGGGACCCACCACGTTGGGCAGACAAAGGCAGCGCCCACTCTCCTCGTCACACGGCATGTCCCTCCGGGACCCCAGGATGTTGCAGTCACAGCCTGCAGGAGGAGAGCTGCTGAGCTCAGGCAGACGCTCCATGAAAAACTCACCCCCAGAGGACACACATCCAGGGAGGGGCGCTGCCTGGGAAAAGAACTGGGCAGGGCCCTTCCCTGCAGATGACATGGCTGACTCACAGGACCCCTGCGCTGTCCCACCAGTTCCAGCCACCTGGCAGCTCAGCCGCCTGCCTGCCCACCCTCCATCTGGCTGACTCAGTCCCACCTTCCAACTCGGACGTGTGCTGCCACCTGCTGGAGGCCAGTGGCACAGCATCTGGCGCTGGGTAAGAGGGCAAGAAGTCCGGACTCCTGGCAAAGGCCCGGGCATACCCCCTCTGTCTACCCTGCAGTGGGATTTCCTCTGAAGAGAGCACAGTGAGCAGGGCAAGCCGTGGGTCTGGTGGCCCCATGCAGCCCACCCCACGTCATGCTGGGCCAAGCCCCCTACTCACGGTGGCAGCCCTGCGGGTTGGCGTAGGTGAGTCCAGTGAAGCCCGGCTTGCATAGGTCACAGCGCTCTCCCTGCACATGCTCCTTGCACACACACTGCCCGGTCACTGGGTCACAGGGAGCCCCTGGCACTGCCCCATCCGGATCACACTCGCAGGCTGAGAGACAACAGCAGCCACCGCAGTAGGAACAAAGAAAAGTAGAGTTCAGAGCAGATTCCAGGAGCCAGGCTGCCTGGTTCAAATCCTTGTTCCACCACTGGATTTCAAATTCACAGCCTTAGTCAAGTTACTTAATCCCTCTGTGCCTCAATTTCCTTGTCTATAAAATAAAAATAATGATACAGCCTTCATAGGCTTCTTATGAGAAATAAATTAGTAAATGGCTGTGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCACGGTGGCGCATGCCTGTAATGCCAGCTACCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGAGATGGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCATCTCCATTAAAAAAGAGAGAGAGAGAGAGAGAAAGAAATGAGTAAACATAAAGCAGGGGGAGCATATTTGGCACATGCTAAGTACTATAGAAGCGGTTTTGTTGTCATTACTTACTGAGCAACTACTCTGTGCCAACCACTGAACTGGGAACTGTCATATGTTGCCTCATGTAATCTTCATGATAATCCTGGAGATTATTATTCTCATTGTACAGAGGAGGAAACCGAGGCT
|
TGCTTGTTTCATCATAGATGCTCTAAAATTATGTAAAGAGAAAGAAAGAGAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAAAGGGAAGGAAGGAAGGAAGGAAAAAAGAAGGAAAAGAAGGAAGGAAGGAAGGTAGGTTGGTTTTCAATATTCGCTTGAGTTCCTCTCCCGGAGCCCCCAGCCAGAAGCTCTAGCACATCGTGAGTCACGGAGCCTCCATTTTCATTCTTCTCAGGCTGCCTTTTCCTTCCCCACCACTCACACACCTGGATGGCTCTGTGCACAGTCAGAAAGCCAGTGCTCAGGGAATGCAAACTAATTATAGAAGCTTCCAGAACTGAACCTCACTAAGAAGGCACCTCTGCTGGTGGGATGGGGGTGTGGGCGGGACCAACTTCCATTCCAAAGCCACACGTGAGTTATTTTTAGAGCCCCTGCCTCTCGGATGCCCTCCGCCAGGGTGACTAATCCAGAGCTGACTCTCTCCCACAGGCAGCACTGGGCACTTAAAAGAACGCTGGGCTTGGGCTCCTGGACTGTGTTCTGAGGCCCAGCTCTGCCCTTCGGTGGTCATGTGGCTCTGTCACATCACCTGTCTGTGCCTGTTTTCTCATCTGCAAAACCACACCAGCCTCACAGGACTGTTGTAATGGTTGAAAGAGAGAGCACTGTGAAAATGCCTTTAAACTGTAATGCACTGTACAAATGTAAGGAAGGACCAGCATGCCCGGTACTGGAACCCCTGGAGCATAATTCTTGCAAATGCTTGGCAGGGAAAGGGAATTACCTGAGGGAGAGGATGGCACTGGCCACCTGAGCCACCTCCTGCTCTGTGACTGCGGGGCTGCTGAGAACTGCTCGGATCTGCTCAATCTTACTCTTTGCATCTAGGATCCGGGAGGCCAGGCCACGGTCCTCCAGCCCAGGCCCTGACCACAGGCTGGCGGTGGCATTGCGGAGTCTACCAAAGCGCAGGGCCTGCTCCCGGAGGTCCGCATCATAGGTCTGGAAGCAAGGGTGGCAGGCCACGCACACCGGGTAGCGATTACAGTAGCCTCGCTGGCACTGGTCACAGCGGGGCCCGGTCAAGCCAGGGCGGCAGAGGCAGCGGCCTGATGCCTTGTCGCAGCCCGGGCCCTCTGTTCCCCGGAAATCACAGTCACAGGCTAGGGCCAAGAAAAATGACAGTCAGAGACAGGGGTCAGGGAGACAGAAGCAGCTGTCAGGGAGAGCCCTGAAGAGGAGGTCTGACCTGAGGCTCTTTCTACATGACTTAGAATAACAGAAGTCGCAGCCAGAATAAAAGCCATGGTAACAGCTGCAGTGAAAGCAAACGCTTACTTAGCACCTACCATGTGCCAGGCACCACTTAAAGTCACACACACACATTAACTCATTTGATCTTCACACCACTCTGGGAATTAGCACTCTTGTTTTCCCACTTTTTCTAGATGAGGCAACTGAGGGACAGAGAGGTTAAGTACAGCATGCCTCTTCCTCTAAGAAGGAAACCAAGTCTAAAGAGGGGAAGCAGCTCCCTCAAAGTCACTCAGTGAGGCAGGGGCAGAGCTGGGACCACAATCTGGTCTGCACACTCCAAGGCCTGTGCTCCTGTGGTGACATCAAACTGACTCCGTGGGAAACGACACCCTTTCCCCTTCAGGACTCACTTCCTCCATCTATGAAGAGGGAAGAAACAGCCTCCCCTCCTTGCTGCTGCCCTGGAGATGGCTTCTGGGAAATGCTCTCTCTCTCTCAGGGAAGTGGGGAGCAAAGCAACCAGCATGTCACGGGGACGCAGGAACAGCGGGCATAGGCCTGCCTCAGGGGCTTGGAGGCCATGCCAACAGGCCGGAGTGTGTGCACTCACAGGGCTGCCCAGGCCCACACCACATGCATCAGTACAGGACATCCTGCCCTGCTGCAGACCTACACGCCCCCACCATGTGCCCACCCGCGTGCTCGGCCCCCAGAGCCTCAGCGTCCCCCAGGCTTTGAGCATGCACCTCGGCATCGTGGCCACGTCTCCATAGGTCCGGTCTGGACACTGGCGGATGGCTGCAGCGCTGCACATCAGGCCACCAAAGCCTTCCCGACAGGGGCACTGCCCTGTGAACTGCGTGGGGAGAGCACCGTCAGTGGACCCTGCCTCACAGCCTCTGCCTTACCCTGGTGTCAGGGACTGTGTCCTAGATTCCTGGTCCACAGGTAGAATCCAGGGCTCATGGCCACCTCCAGAGCTGCTGTGCCCACAAAACAAGGGCTCCCACTCAGAGATGAGCCTTGAAGTCAAGGCCCAGCATAGGCCCTTCAGAAGGTGTGGTGCATATGGTATTACTGACGGCCAAGAGCCACAGAGGGAGGGACATCTGGTGACTTCCCCAAATGAGAACGGGGACAGAAGACGCCCAGTCTGACAGGGGAGAGGCCTAGAAGGGCAGCATGGAGGGGCAGCAGAGAGGCTGGTGCTCAGGACCCCCCTCCCACTGAGGGGGCCCCCGGACCACCCTCACTTCGTACCTGGTTGCACTGTGGGCTGAGGGAGTTGTGCGGGTCGCAGGCACACGGTTCACAGCCCTGGCCACTGGCCAGCTTCCAGTGGTAGGGAGCACACTGGTCACATTTGGGACCCACCACGTTGGGCAGACAAAGGCAGCGCCCACTCTCCTCGTCACACGGCATGTCCCTCCGGGACCCCAGGATGTTGCAGTCACAGCCTGCAGGAGGAGAGCTGCTGAGCTCAGGCAGACGCTCCATGAAAAACTCACCCCCAGAGGACACACATCCAGGGAGGGGCGCTGCCTGGGAAAAGAACTGGGCAGGGCCCTTCCCTGCAGATGACATGGCTGACTCACAGGACCCCTGCGCTGTCCCACCAGTTCCAGCCACCTGGCAGCTCAGCCGCCTGCCTGCCCACCCTCCATCTGGCTGACTCAGTCCCACCTTCCAACTCGGACGTGTGCTGCCACCTGCTGGAGGCCAGTGGCACAGCATCTGGCGCTGGGTAAGAGGGCAAGAAGTCCGGACTCCTGGCAAAGGCCCGGGCATACCCCCTCTGTCTACCCTGCAGTGGGATTTCCTCTGAAGAGAGCACAGTGAGCAGGGCAAGCCGTGGGTCTGGTGGCCCCATGCAGCCCACCCCACGTCATGCTGGGCCAAGCCCCCTACTCACGGTGGCAGCCCTGCGGGTTGGCGTAGGTGAGTCCAGTGAAGCCCGGCTTGCATAGGTCACAGCGCTCTCCCTGCACATGCTCCTTGCACACACACTGCCCGGTCACTGGGTCACAGGGAGCCCCTGGCACTGCCCCATCCGGATCACACTCGCAGGCTGAGAGACAACAGCAGCCACCGCAGTAGGAACAAAGAAAAGTAGAGTTCAGAGCAGATTCCAGGAGCCAGGCTGCCTGGTTCAAATCCTTGTTCCACCACTGGATTTCAAATTCACAGCCTTAGTCAAGTTACTTAATCCCTCTGTGCCTCAATTTCCTTGTCTATAAAATAAAAATAATGATACAGCCTTCATAGGCTTCTTATGAGAAATAAATTAGTAAATGGCTGTGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCACGGTGGCGCATGCCTGTAATGCCAGCTACCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGAGATGGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCATCTCCATTAAAAAAGAGAGAGAGAGAGAGAGAAAGAAATGAGTAAACATAAAGCAGGGGGAGCATATTTGGCACATGCTAAGTACTATAGAAGCGGTTTTGTTGTCATTACTTACTGAGCAACTACTCTGTGCCAACCACTGAACTGGGAACTGTCATATGTTGCCTCATGTAATCTTCATGATAATCCTGGAGATTATTATTCTCATTGTACAGAGGAGGAAACCGAGGCTNN
|
pathogenic
| 21,246
|
A genetic alteration at chromosome 1, position 209627501, in gene LAMB3 (laminin subunit beta 3)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz']
|
CTGTCTGTGCCTGTTTTCTCATCTGCAAAACCACACCAGCCTCACAGGACTGTTGTAATGGTTGAAAGAGAGAGCACTGTGAAAATGCCTTTAAACTGTAATGCACTGTACAAATGTAAGGAAGGACCAGCATGCCCGGTACTGGAACCCCTGGAGCATAATTCTTGCAAATGCTTGGCAGGGAAAGGGAATTACCTGAGGGAGAGGATGGCACTGGCCACCTGAGCCACCTCCTGCTCTGTGACTGCGGGGCTGCTGAGAACTGCTCGGATCTGCTCAATCTTACTCTTTGCATCTAGGATCCGGGAGGCCAGGCCACGGTCCTCCAGCCCAGGCCCTGACCACAGGCTGGCGGTGGCATTGCGGAGTCTACCAAAGCGCAGGGCCTGCTCCCGGAGGTCCGCATCATAGGTCTGGAAGCAAGGGTGGCAGGCCACGCACACCGGGTAGCGATTACAGTAGCCTCGCTGGCACTGGTCACAGCGGGGCCCGGTCAAGCCAGGGCGGCAGAGGCAGCGGCCTGATGCCTTGTCGCAGCCCGGGCCCTCTGTTCCCCGGAAATCACAGTCACAGGCTAGGGCCAAGAAAAATGACAGTCAGAGACAGGGGTCAGGGAGACAGAAGCAGCTGTCAGGGAGAGCCCTGAAGAGGAGGTCTGACCTGAGGCTCTTTCTACATGACTTAGAATAACAGAAGTCGCAGCCAGAATAAAAGCCATGGTAACAGCTGCAGTGAAAGCAAACGCTTACTTAGCACCTACCATGTGCCAGGCACCACTTAAAGTCACACACACACATTAACTCATTTGATCTTCACACCACTCTGGGAATTAGCACTCTTGTTTTCCCACTTTTTCTAGATGAGGCAACTGAGGGACAGAGAGGTTAAGTACAGCATGCCTCTTCCTCTAAGAAGGAAACCAAGTCTAAAGAGGGGAAGCAGCTCCCTCAAAGTCACTCAGTGAGGCAGGGGCAGAGCTGGGACCACAATCTGGTCTGCACACTCCAAGGCCTGTGCTCCTGTGGTGACATCAAACTGACTCCGTGGGAAACGACACCCTTTCCCCTTCAGGACTCACTTCCTCCATCTATGAAGAGGGAAGAAACAGCCTCCCCTCCTTGCTGCTGCCCTGGAGATGGCTTCTGGGAAATGCTCTCTCTCTCTCAGGGAAGTGGGGAGCAAAGCAACCAGCATGTCACGGGGACGCAGGAACAGCGGGCATAGGCCTGCCTCAGGGGCTTGGAGGCCATGCCAACAGGCCGGAGTGTGTGCACTCACAGGGCTGCCCAGGCCCACACCACATGCATCAGTACAGGACATCCTGCCCTGCTGCAGACCTACACGCCCCCACCATGTGCCCACCCGCGTGCTCGGCCCCCAGAGCCTCAGCGTCCCCCAGGCTTTGAGCATGCACCTCGGCATCCTGTGGCCACGTCTCCATAGGTCCGGTCTGGACACTGGCGGATGGCTGCAGCGCTGCACATCAGGCCACCAAAGCCTTCCCGACAGGGGCACTGCCCTGTGAACTGCGTGGGGAGAGCACCGTCAGTGGACCCTGCCTCACAGCCTCTGCCTTACCCTGGTGTCAGGGACTGTGTCCTAGATTCCTGGTCCACAGGTAGAATCCAGGGCTCATGGCCACCTCCAGAGCTGCTGTGCCCACAAAACAAGGGCTCCCACTCAGAGATGAGCCTTGAAGTCAAGGCCCAGCATAGGCCCTTCAGAAGGTGTGGTGCATATGGTATTACTGACGGCCAAGAGCCACAGAGGGAGGGACATCTGGTGACTTCCCCAAATGAGAACGGGGACAGAAGACGCCCAGTCTGACAGGGGAGAGGCCTAGAAGGGCAGCATGGAGGGGCAGCAGAGAGGCTGGTGCTCAGGACCCCCCTCCCACTGAGGGGGCCCCCGGACCACCCTCACTTCGTACCTGGTTGCACTGTGGGCTGAGGGAGTTGTGCGGGTCGCAGGCACACGGTTCACAGCCCTGGCCACTGGCCAGCTTCCAGTGGTAGGGAGCACACTGGTCACATTTGGGACCCACCACGTTGGGCAGACAAAGGCAGCGCCCACTCTCCTCGTCACACGGCATGTCCCTCCGGGACCCCAGGATGTTGCAGTCACAGCCTGCAGGAGGAGAGCTGCTGAGCTCAGGCAGACGCTCCATGAAAAACTCACCCCCAGAGGACACACATCCAGGGAGGGGCGCTGCCTGGGAAAAGAACTGGGCAGGGCCCTTCCCTGCAGATGACATGGCTGACTCACAGGACCCCTGCGCTGTCCCACCAGTTCCAGCCACCTGGCAGCTCAGCCGCCTGCCTGCCCACCCTCCATCTGGCTGACTCAGTCCCACCTTCCAACTCGGACGTGTGCTGCCACCTGCTGGAGGCCAGTGGCACAGCATCTGGCGCTGGGTAAGAGGGCAAGAAGTCCGGACTCCTGGCAAAGGCCCGGGCATACCCCCTCTGTCTACCCTGCAGTGGGATTTCCTCTGAAGAGAGCACAGTGAGCAGGGCAAGCCGTGGGTCTGGTGGCCCCATGCAGCCCACCCCACGTCATGCTGGGCCAAGCCCCCTACTCACGGTGGCAGCCCTGCGGGTTGGCGTAGGTGAGTCCAGTGAAGCCCGGCTTGCATAGGTCACAGCGCTCTCCCTGCACATGCTCCTTGCACACACACTGCCCGGTCACTGGGTCACAGGGAGCCCCTGGCACTGCCCCATCCGGATCACACTCGCAGGCTGAGAGACAACAGCAGCCACCGCAGTAGGAACAAAGAAAAGTAGAGTTCAGAGCAGATTCCAGGAGCCAGGCTGCCTGGTTCAAATCCTTGTTCCACCACTGGATTTCAAATTCACAGCCTTAGTCAAGTTACTTAATCCCTCTGTGCCTCAATTTCCTTGTCTATAAAATAAAAATAATGATACAGCCTTCATAGGCTTCTTATGAGAAATAAATTAGTAAATGGCTGTGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCACGGTGGCGCATGCCTGTAATGCCAGCTACCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGAGATGGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCATCTCCATTAAAAAAGAGAGAGAGAGAGAGAGAAAGAAATGAGTAAACATAAAGCAGGGGGAGCATATTTGGCACATGCTAAGTACTATAGAAGCGGTTTTGTTGTCATTACTTACTGAGCAACTACTCTGTGCCAACCACTGAACTGGGAACTGTCATATGTTGCCTCATGTAATCTTCATGATAATCCTGGAGATTATTATTCTCATTGTACAGAGGAGGAAACCGAGGCTCAGATATGTCAAATAACTTATTCAAGTTCTCATTACAAGTTCATGCAAGAAACAGGGATCAAACTCAGTTCTGTCTCACTCTTCCCAGAAACAAACATCAACAGAAAGTGACTCAGCTTTCCCCAACCCCCACTCCCTGACTTCTTTCAGACCTTTCAAAATGTAAGACCCCTTCATCCAGAAAGTCTTTTCTGACTAAACCTGCCCGAATCTGATTGCTTCAGTCCAGGCAGCCCTCTCCTATATGAAGTCGCTGGCTCTTGTGTGCATGTTAAGCTGCCTCTGCCTGTTGCCTCCCATTACATTCACAAACACTCCCTGAGCATCAGTTATTTTCCAGTCAGTGTGCTAGGGCTAGAGGATGTGAGAAATAATCCTCGCCATGGAGGAGTTCTCGATGTTGGGAGAAATAGAAAATTAAATCACAAACCTCATTACAACATGGTAAAGGCAATCATATACATACGGAAAAGGTGCTTTCATCCCTCTTCTGCAGGTGTATACAGTTTATATTGCCAAACAGTGTGTGTGTTCCCTGATGGCACAAACTGTATCTTATGTTTACTTTTTTCTTCCCTATGCCCCAAATAAAGCCTAACTCTTGATTGATTGTCTGATTGATGGTC
|
CTGTCTGTGCCTGTTTTCTCATCTGCAAAACCACACCAGCCTCACAGGACTGTTGTAATGGTTGAAAGAGAGAGCACTGTGAAAATGCCTTTAAACTGTAATGCACTGTACAAATGTAAGGAAGGACCAGCATGCCCGGTACTGGAACCCCTGGAGCATAATTCTTGCAAATGCTTGGCAGGGAAAGGGAATTACCTGAGGGAGAGGATGGCACTGGCCACCTGAGCCACCTCCTGCTCTGTGACTGCGGGGCTGCTGAGAACTGCTCGGATCTGCTCAATCTTACTCTTTGCATCTAGGATCCGGGAGGCCAGGCCACGGTCCTCCAGCCCAGGCCCTGACCACAGGCTGGCGGTGGCATTGCGGAGTCTACCAAAGCGCAGGGCCTGCTCCCGGAGGTCCGCATCATAGGTCTGGAAGCAAGGGTGGCAGGCCACGCACACCGGGTAGCGATTACAGTAGCCTCGCTGGCACTGGTCACAGCGGGGCCCGGTCAAGCCAGGGCGGCAGAGGCAGCGGCCTGATGCCTTGTCGCAGCCCGGGCCCTCTGTTCCCCGGAAATCACAGTCACAGGCTAGGGCCAAGAAAAATGACAGTCAGAGACAGGGGTCAGGGAGACAGAAGCAGCTGTCAGGGAGAGCCCTGAAGAGGAGGTCTGACCTGAGGCTCTTTCTACATGACTTAGAATAACAGAAGTCGCAGCCAGAATAAAAGCCATGGTAACAGCTGCAGTGAAAGCAAACGCTTACTTAGCACCTACCATGTGCCAGGCACCACTTAAAGTCACACACACACATTAACTCATTTGATCTTCACACCACTCTGGGAATTAGCACTCTTGTTTTCCCACTTTTTCTAGATGAGGCAACTGAGGGACAGAGAGGTTAAGTACAGCATGCCTCTTCCTCTAAGAAGGAAACCAAGTCTAAAGAGGGGAAGCAGCTCCCTCAAAGTCACTCAGTGAGGCAGGGGCAGAGCTGGGACCACAATCTGGTCTGCACACTCCAAGGCCTGTGCTCCTGTGGTGACATCAAACTGACTCCGTGGGAAACGACACCCTTTCCCCTTCAGGACTCACTTCCTCCATCTATGAAGAGGGAAGAAACAGCCTCCCCTCCTTGCTGCTGCCCTGGAGATGGCTTCTGGGAAATGCTCTCTCTCTCTCAGGGAAGTGGGGAGCAAAGCAACCAGCATGTCACGGGGACGCAGGAACAGCGGGCATAGGCCTGCCTCAGGGGCTTGGAGGCCATGCCAACAGGCCGGAGTGTGTGCACTCACAGGGCTGCCCAGGCCCACACCACATGCATCAGTACAGGACATCCTGCCCTGCTGCAGACCTACACGCCCCCACCATGTGCCCACCCGCGTGCTCGGCCCCCAGAGCCTCAGCGTCCCCCAGGCTTTGAGCATGCACCTCGGCATCCTGTGGCCACGTCTCCATAGGTCCGGTCTGGACACTGGCGGATGGCTGCAGCGCTGCACATCAGGCCACCAAAGCCTTCCCGACAGGGGCACTGCCCTGTGAACTGCGTGGGGAGAGCACCGTCAGTGGACCCTGCCTCACAGCCTCTGCCTTACCCTGGTGTCAGGGACTGTGTCCTAGATTCCTGGTCCACAGGTAGAATCCAGGGCTCATGGCCACCTCCAGAGCTGCTGTGCCCACAAAACAAGGGCTCCCACTCAGAGATGAGCCTTGAAGTCAAGGCCCAGCATAGGCCCTTCAGAAGGTGTGGTGCATATGGTATTACTGACGGCCAAGAGCCACAGAGGGAGGGACATCTGGTGACTTCCCCAAATGAGAACGGGGACAGAAGACGCCCAGTCTGACAGGGGAGAGGCCTAGAAGGGCAGCATGGAGGGGCAGCAGAGAGGCTGGTGCTCAGGACCCCCCTCCCACTGAGGGGGCCCCCGGACCACCCTCACTTCGTACCTGGTTGCACTGTGGGCTGAGGGAGTTGTGCGGGTCGCAGGCACACGGTTCACAGCCCTGGCCACTGGCCAGCTTCCAGTGGTAGGGAGCACACTGGTCACATTTGGGACCCACCACGTGGCAGACAAAGGCAGCGCCCACTCTCCTCGTCACACGGCATGTCCCTCCGGGACCCCAGGATGTTGCAGTCACAGCCTGCAGGAGGAGAGCTGCTGAGCTCAGGCAGACGCTCCATGAAAAACTCACCCCCAGAGGACACACATCCAGGGAGGGGCGCTGCCTGGGAAAAGAACTGGGCAGGGCCCTTCCCTGCAGATGACATGGCTGACTCACAGGACCCCTGCGCTGTCCCACCAGTTCCAGCCACCTGGCAGCTCAGCCGCCTGCCTGCCCACCCTCCATCTGGCTGACTCAGTCCCACCTTCCAACTCGGACGTGTGCTGCCACCTGCTGGAGGCCAGTGGCACAGCATCTGGCGCTGGGTAAGAGGGCAAGAAGTCCGGACTCCTGGCAAAGGCCCGGGCATACCCCCTCTGTCTACCCTGCAGTGGGATTTCCTCTGAAGAGAGCACAGTGAGCAGGGCAAGCCGTGGGTCTGGTGGCCCCATGCAGCCCACCCCACGTCATGCTGGGCCAAGCCCCCTACTCACGGTGGCAGCCCTGCGGGTTGGCGTAGGTGAGTCCAGTGAAGCCCGGCTTGCATAGGTCACAGCGCTCTCCCTGCACATGCTCCTTGCACACACACTGCCCGGTCACTGGGTCACAGGGAGCCCCTGGCACTGCCCCATCCGGATCACACTCGCAGGCTGAGAGACAACAGCAGCCACCGCAGTAGGAACAAAGAAAAGTAGAGTTCAGAGCAGATTCCAGGAGCCAGGCTGCCTGGTTCAAATCCTTGTTCCACCACTGGATTTCAAATTCACAGCCTTAGTCAAGTTACTTAATCCCTCTGTGCCTCAATTTCCTTGTCTATAAAATAAAAATAATGATACAGCCTTCATAGGCTTCTTATGAGAAATAAATTAGTAAATGGCTGTGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCACGGTGGCGCATGCCTGTAATGCCAGCTACCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGAGATGGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCATCTCCATTAAAAAAGAGAGAGAGAGAGAGAGAAAGAAATGAGTAAACATAAAGCAGGGGGAGCATATTTGGCACATGCTAAGTACTATAGAAGCGGTTTTGTTGTCATTACTTACTGAGCAACTACTCTGTGCCAACCACTGAACTGGGAACTGTCATATGTTGCCTCATGTAATCTTCATGATAATCCTGGAGATTATTATTCTCATTGTACAGAGGAGGAAACCGAGGCTCAGATATGTCAAATAACTTATTCAAGTTCTCATTACAAGTTCATGCAAGAAACAGGGATCAAACTCAGTTCTGTCTCACTCTTCCCAGAAACAAACATCAACAGAAAGTGACTCAGCTTTCCCCAACCCCCACTCCCTGACTTCTTTCAGACCTTTCAAAATGTAAGACCCCTTCATCCAGAAAGTCTTTTCTGACTAAACCTGCCCGAATCTGATTGCTTCAGTCCAGGCAGCCCTCTCCTATATGAAGTCGCTGGCTCTTGTGTGCATGTTAAGCTGCCTCTGCCTGTTGCCTCCCATTACATTCACAAACACTCCCTGAGCATCAGTTATTTTCCAGTCAGTGTGCTAGGGCTAGAGGATGTGAGAAATAATCCTCGCCATGGAGGAGTTCTCGATGTTGGGAGAAATAGAAAATTAAATCACAAACCTCATTACAACATGGTAAAGGCAATCATATACATACGGAAAAGGTGCTTTCATCCCTCTTCTGCAGGTGTATACAGTTTATATTGCCAAACAGTGTGTGTGTTCCCTGATGGCACAAACTGTATCTTATGTTTACTTTTTTCTTCCCTATGCCCCAAATAAAGCCTAACTCTTGATTGATTGTCTGATTGATGGTCNN
|
pathogenic
| 21,253
|
Gene LAMB3 (laminin subunit beta 3) variant at chromosome position 209627510 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz']
|
CCTGTTTTCTCATCTGCAAAACCACACCAGCCTCACAGGACTGTTGTAATGGTTGAAAGAGAGAGCACTGTGAAAATGCCTTTAAACTGTAATGCACTGTACAAATGTAAGGAAGGACCAGCATGCCCGGTACTGGAACCCCTGGAGCATAATTCTTGCAAATGCTTGGCAGGGAAAGGGAATTACCTGAGGGAGAGGATGGCACTGGCCACCTGAGCCACCTCCTGCTCTGTGACTGCGGGGCTGCTGAGAACTGCTCGGATCTGCTCAATCTTACTCTTTGCATCTAGGATCCGGGAGGCCAGGCCACGGTCCTCCAGCCCAGGCCCTGACCACAGGCTGGCGGTGGCATTGCGGAGTCTACCAAAGCGCAGGGCCTGCTCCCGGAGGTCCGCATCATAGGTCTGGAAGCAAGGGTGGCAGGCCACGCACACCGGGTAGCGATTACAGTAGCCTCGCTGGCACTGGTCACAGCGGGGCCCGGTCAAGCCAGGGCGGCAGAGGCAGCGGCCTGATGCCTTGTCGCAGCCCGGGCCCTCTGTTCCCCGGAAATCACAGTCACAGGCTAGGGCCAAGAAAAATGACAGTCAGAGACAGGGGTCAGGGAGACAGAAGCAGCTGTCAGGGAGAGCCCTGAAGAGGAGGTCTGACCTGAGGCTCTTTCTACATGACTTAGAATAACAGAAGTCGCAGCCAGAATAAAAGCCATGGTAACAGCTGCAGTGAAAGCAAACGCTTACTTAGCACCTACCATGTGCCAGGCACCACTTAAAGTCACACACACACATTAACTCATTTGATCTTCACACCACTCTGGGAATTAGCACTCTTGTTTTCCCACTTTTTCTAGATGAGGCAACTGAGGGACAGAGAGGTTAAGTACAGCATGCCTCTTCCTCTAAGAAGGAAACCAAGTCTAAAGAGGGGAAGCAGCTCCCTCAAAGTCACTCAGTGAGGCAGGGGCAGAGCTGGGACCACAATCTGGTCTGCACACTCCAAGGCCTGTGCTCCTGTGGTGACATCAAACTGACTCCGTGGGAAACGACACCCTTTCCCCTTCAGGACTCACTTCCTCCATCTATGAAGAGGGAAGAAACAGCCTCCCCTCCTTGCTGCTGCCCTGGAGATGGCTTCTGGGAAATGCTCTCTCTCTCTCAGGGAAGTGGGGAGCAAAGCAACCAGCATGTCACGGGGACGCAGGAACAGCGGGCATAGGCCTGCCTCAGGGGCTTGGAGGCCATGCCAACAGGCCGGAGTGTGTGCACTCACAGGGCTGCCCAGGCCCACACCACATGCATCAGTACAGGACATCCTGCCCTGCTGCAGACCTACACGCCCCCACCATGTGCCCACCCGCGTGCTCGGCCCCCAGAGCCTCAGCGTCCCCCAGGCTTTGAGCATGCACCTCGGCATCCTGTGGCCACGTCTCCATAGGTCCGGTCTGGACACTGGCGGATGGCTGCAGCGCTGCACATCAGGCCACCAAAGCCTTCCCGACAGGGGCACTGCCCTGTGAACTGCGTGGGGAGAGCACCGTCAGTGGACCCTGCCTCACAGCCTCTGCCTTACCCTGGTGTCAGGGACTGTGTCCTAGATTCCTGGTCCACAGGTAGAATCCAGGGCTCATGGCCACCTCCAGAGCTGCTGTGCCCACAAAACAAGGGCTCCCACTCAGAGATGAGCCTTGAAGTCAAGGCCCAGCATAGGCCCTTCAGAAGGTGTGGTGCATATGGTATTACTGACGGCCAAGAGCCACAGAGGGAGGGACATCTGGTGACTTCCCCAAATGAGAACGGGGACAGAAGACGCCCAGTCTGACAGGGGAGAGGCCTAGAAGGGCAGCATGGAGGGGCAGCAGAGAGGCTGGTGCTCAGGACCCCCCTCCCACTGAGGGGGCCCCCGGACCACCCTCACTTCGTACCTGGTTGCACTGTGGGCTGAGGGAGTTGTGCGGGTCGCAGGCACACGGTTCACAGCCCTGGCCACTGGCCAGCTTCCAGTGGTAGGGAGCACACTGGTCACATTTGGGACCCACCACGTTGGGCAGACAAAGGCAGCGCCCACTCTCCTCGTCACACGGCATGTCCCTCCGGGACCCCAGGATGTTGCAGTCACAGCCTGCAGGAGGAGAGCTGCTGAGCTCAGGCAGACGCTCCATGAAAAACTCACCCCCAGAGGACACACATCCAGGGAGGGGCGCTGCCTGGGAAAAGAACTGGGCAGGGCCCTTCCCTGCAGATGACATGGCTGACTCACAGGACCCCTGCGCTGTCCCACCAGTTCCAGCCACCTGGCAGCTCAGCCGCCTGCCTGCCCACCCTCCATCTGGCTGACTCAGTCCCACCTTCCAACTCGGACGTGTGCTGCCACCTGCTGGAGGCCAGTGGCACAGCATCTGGCGCTGGGTAAGAGGGCAAGAAGTCCGGACTCCTGGCAAAGGCCCGGGCATACCCCCTCTGTCTACCCTGCAGTGGGATTTCCTCTGAAGAGAGCACAGTGAGCAGGGCAAGCCGTGGGTCTGGTGGCCCCATGCAGCCCACCCCACGTCATGCTGGGCCAAGCCCCCTACTCACGGTGGCAGCCCTGCGGGTTGGCGTAGGTGAGTCCAGTGAAGCCCGGCTTGCATAGGTCACAGCGCTCTCCCTGCACATGCTCCTTGCACACACACTGCCCGGTCACTGGGTCACAGGGAGCCCCTGGCACTGCCCCATCCGGATCACACTCGCAGGCTGAGAGACAACAGCAGCCACCGCAGTAGGAACAAAGAAAAGTAGAGTTCAGAGCAGATTCCAGGAGCCAGGCTGCCTGGTTCAAATCCTTGTTCCACCACTGGATTTCAAATTCACAGCCTTAGTCAAGTTACTTAATCCCTCTGTGCCTCAATTTCCTTGTCTATAAAATAAAAATAATGATACAGCCTTCATAGGCTTCTTATGAGAAATAAATTAGTAAATGGCTGTGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCACGGTGGCGCATGCCTGTAATGCCAGCTACCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGAGATGGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCATCTCCATTAAAAAAGAGAGAGAGAGAGAGAGAAAGAAATGAGTAAACATAAAGCAGGGGGAGCATATTTGGCACATGCTAAGTACTATAGAAGCGGTTTTGTTGTCATTACTTACTGAGCAACTACTCTGTGCCAACCACTGAACTGGGAACTGTCATATGTTGCCTCATGTAATCTTCATGATAATCCTGGAGATTATTATTCTCATTGTACAGAGGAGGAAACCGAGGCTCAGATATGTCAAATAACTTATTCAAGTTCTCATTACAAGTTCATGCAAGAAACAGGGATCAAACTCAGTTCTGTCTCACTCTTCCCAGAAACAAACATCAACAGAAAGTGACTCAGCTTTCCCCAACCCCCACTCCCTGACTTCTTTCAGACCTTTCAAAATGTAAGACCCCTTCATCCAGAAAGTCTTTTCTGACTAAACCTGCCCGAATCTGATTGCTTCAGTCCAGGCAGCCCTCTCCTATATGAAGTCGCTGGCTCTTGTGTGCATGTTAAGCTGCCTCTGCCTGTTGCCTCCCATTACATTCACAAACACTCCCTGAGCATCAGTTATTTTCCAGTCAGTGTGCTAGGGCTAGAGGATGTGAGAAATAATCCTCGCCATGGAGGAGTTCTCGATGTTGGGAGAAATAGAAAATTAAATCACAAACCTCATTACAACATGGTAAAGGCAATCATATACATACGGAAAAGGTGCTTTCATCCCTCTTCTGCAGGTGTATACAGTTTATATTGCCAAACAGTGTGTGTGTTCCCTGATGGCACAAACTGTATCTTATGTTTACTTTTTTCTTCCCTATGCCCCAAATAAAGCCTAACTCTTGATTGATTGTCTGATTGATGGTCCAGAGAGGT
|
CCTGTTTTCTCATCTGCAAAACCACACCAGCCTCACAGGACTGTTGTAATGGTTGAAAGAGAGAGCACTGTGAAAATGCCTTTAAACTGTAATGCACTGTACAAATGTAAGGAAGGACCAGCATGCCCGGTACTGGAACCCCTGGAGCATAATTCTTGCAAATGCTTGGCAGGGAAAGGGAATTACCTGAGGGAGAGGATGGCACTGGCCACCTGAGCCACCTCCTGCTCTGTGACTGCGGGGCTGCTGAGAACTGCTCGGATCTGCTCAATCTTACTCTTTGCATCTAGGATCCGGGAGGCCAGGCCACGGTCCTCCAGCCCAGGCCCTGACCACAGGCTGGCGGTGGCATTGCGGAGTCTACCAAAGCGCAGGGCCTGCTCCCGGAGGTCCGCATCATAGGTCTGGAAGCAAGGGTGGCAGGCCACGCACACCGGGTAGCGATTACAGTAGCCTCGCTGGCACTGGTCACAGCGGGGCCCGGTCAAGCCAGGGCGGCAGAGGCAGCGGCCTGATGCCTTGTCGCAGCCCGGGCCCTCTGTTCCCCGGAAATCACAGTCACAGGCTAGGGCCAAGAAAAATGACAGTCAGAGACAGGGGTCAGGGAGACAGAAGCAGCTGTCAGGGAGAGCCCTGAAGAGGAGGTCTGACCTGAGGCTCTTTCTACATGACTTAGAATAACAGAAGTCGCAGCCAGAATAAAAGCCATGGTAACAGCTGCAGTGAAAGCAAACGCTTACTTAGCACCTACCATGTGCCAGGCACCACTTAAAGTCACACACACACATTAACTCATTTGATCTTCACACCACTCTGGGAATTAGCACTCTTGTTTTCCCACTTTTTCTAGATGAGGCAACTGAGGGACAGAGAGGTTAAGTACAGCATGCCTCTTCCTCTAAGAAGGAAACCAAGTCTAAAGAGGGGAAGCAGCTCCCTCAAAGTCACTCAGTGAGGCAGGGGCAGAGCTGGGACCACAATCTGGTCTGCACACTCCAAGGCCTGTGCTCCTGTGGTGACATCAAACTGACTCCGTGGGAAACGACACCCTTTCCCCTTCAGGACTCACTTCCTCCATCTATGAAGAGGGAAGAAACAGCCTCCCCTCCTTGCTGCTGCCCTGGAGATGGCTTCTGGGAAATGCTCTCTCTCTCTCAGGGAAGTGGGGAGCAAAGCAACCAGCATGTCACGGGGACGCAGGAACAGCGGGCATAGGCCTGCCTCAGGGGCTTGGAGGCCATGCCAACAGGCCGGAGTGTGTGCACTCACAGGGCTGCCCAGGCCCACACCACATGCATCAGTACAGGACATCCTGCCCTGCTGCAGACCTACACGCCCCCACCATGTGCCCACCCGCGTGCTCGGCCCCCAGAGCCTCAGCGTCCCCCAGGCTTTGAGCATGCACCTCGGCATCCTGTGGCCACGTCTCCATAGGTCCGGTCTGGACACTGGCGGATGGCTGCAGCGCTGCACATCAGGCCACCAAAGCCTTCCCGACAGGGGCACTGCCCTGTGAACTGCGTGGGGAGAGCACCGTCAGTGGACCCTGCCTCACAGCCTCTGCCTTACCCTGGTGTCAGGGACTGTGTCCTAGATTCCTGGTCCACAGGTAGAATCCAGGGCTCATGGCCACCTCCAGAGCTGCTGTGCCCACAAAACAAGGGCTCCCACTCAGAGATGAGCCTTGAAGTCAAGGCCCAGCATAGGCCCTTCAGAAGGTGTGGTGCATATGGTATTACTGACGGCCAAGAGCCACAGAGGGAGGGACATCTGGTGACTTCCCCAAATGAGAACGGGGACAGAAGACGCCCAGTCTGACAGGGGAGAGGCCTAGAAGGGCAGCATGGAGGGGCAGCAGAGAGGCTGGTGCTCAGGACCCCCCTCCCACTGAGGGGGCCCCCGGACCACCCTCACTTCGTACCTGGTTGCACTGTGGGCTGAGGGAGTTGTGCGGGTCGCAGGCACACGGTTCACAGCCCTGGCCACTGGCCAGCTTCCAGTGGTAGGGAGCACACTGGTCACATTTGGGACCCACCACGTTGGGCAGACAAGGCAGCGCCCACTCTCCTCGTCACACGGCATGTCCCTCCGGGACCCCAGGATGTTGCAGTCACAGCCTGCAGGAGGAGAGCTGCTGAGCTCAGGCAGACGCTCCATGAAAAACTCACCCCCAGAGGACACACATCCAGGGAGGGGCGCTGCCTGGGAAAAGAACTGGGCAGGGCCCTTCCCTGCAGATGACATGGCTGACTCACAGGACCCCTGCGCTGTCCCACCAGTTCCAGCCACCTGGCAGCTCAGCCGCCTGCCTGCCCACCCTCCATCTGGCTGACTCAGTCCCACCTTCCAACTCGGACGTGTGCTGCCACCTGCTGGAGGCCAGTGGCACAGCATCTGGCGCTGGGTAAGAGGGCAAGAAGTCCGGACTCCTGGCAAAGGCCCGGGCATACCCCCTCTGTCTACCCTGCAGTGGGATTTCCTCTGAAGAGAGCACAGTGAGCAGGGCAAGCCGTGGGTCTGGTGGCCCCATGCAGCCCACCCCACGTCATGCTGGGCCAAGCCCCCTACTCACGGTGGCAGCCCTGCGGGTTGGCGTAGGTGAGTCCAGTGAAGCCCGGCTTGCATAGGTCACAGCGCTCTCCCTGCACATGCTCCTTGCACACACACTGCCCGGTCACTGGGTCACAGGGAGCCCCTGGCACTGCCCCATCCGGATCACACTCGCAGGCTGAGAGACAACAGCAGCCACCGCAGTAGGAACAAAGAAAAGTAGAGTTCAGAGCAGATTCCAGGAGCCAGGCTGCCTGGTTCAAATCCTTGTTCCACCACTGGATTTCAAATTCACAGCCTTAGTCAAGTTACTTAATCCCTCTGTGCCTCAATTTCCTTGTCTATAAAATAAAAATAATGATACAGCCTTCATAGGCTTCTTATGAGAAATAAATTAGTAAATGGCTGTGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCACGGTGGCGCATGCCTGTAATGCCAGCTACCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGAGATGGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCATCTCCATTAAAAAAGAGAGAGAGAGAGAGAGAAAGAAATGAGTAAACATAAAGCAGGGGGAGCATATTTGGCACATGCTAAGTACTATAGAAGCGGTTTTGTTGTCATTACTTACTGAGCAACTACTCTGTGCCAACCACTGAACTGGGAACTGTCATATGTTGCCTCATGTAATCTTCATGATAATCCTGGAGATTATTATTCTCATTGTACAGAGGAGGAAACCGAGGCTCAGATATGTCAAATAACTTATTCAAGTTCTCATTACAAGTTCATGCAAGAAACAGGGATCAAACTCAGTTCTGTCTCACTCTTCCCAGAAACAAACATCAACAGAAAGTGACTCAGCTTTCCCCAACCCCCACTCCCTGACTTCTTTCAGACCTTTCAAAATGTAAGACCCCTTCATCCAGAAAGTCTTTTCTGACTAAACCTGCCCGAATCTGATTGCTTCAGTCCAGGCAGCCCTCTCCTATATGAAGTCGCTGGCTCTTGTGTGCATGTTAAGCTGCCTCTGCCTGTTGCCTCCCATTACATTCACAAACACTCCCTGAGCATCAGTTATTTTCCAGTCAGTGTGCTAGGGCTAGAGGATGTGAGAAATAATCCTCGCCATGGAGGAGTTCTCGATGTTGGGAGAAATAGAAAATTAAATCACAAACCTCATTACAACATGGTAAAGGCAATCATATACATACGGAAAAGGTGCTTTCATCCCTCTTCTGCAGGTGTATACAGTTTATATTGCCAAACAGTGTGTGTGTTCCCTGATGGCACAAACTGTATCTTATGTTTACTTTTTTCTTCCCTATGCCCCAAATAAAGCCTAACTCTTGATTGATTGTCTGATTGATGGTCCAGAGAGGTN
|
pathogenic
| 21,254
|
Gene LAMB3 (laminin subunit beta 3) variant at chromosome position 209629838 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz']
|
GCTGACTCAGTCCCACCTTCCAACTCGGACGTGTGCTGCCACCTGCTGGAGGCCAGTGGCACAGCATCTGGCGCTGGGTAAGAGGGCAAGAAGTCCGGACTCCTGGCAAAGGCCCGGGCATACCCCCTCTGTCTACCCTGCAGTGGGATTTCCTCTGAAGAGAGCACAGTGAGCAGGGCAAGCCGTGGGTCTGGTGGCCCCATGCAGCCCACCCCACGTCATGCTGGGCCAAGCCCCCTACTCACGGTGGCAGCCCTGCGGGTTGGCGTAGGTGAGTCCAGTGAAGCCCGGCTTGCATAGGTCACAGCGCTCTCCCTGCACATGCTCCTTGCACACACACTGCCCGGTCACTGGGTCACAGGGAGCCCCTGGCACTGCCCCATCCGGATCACACTCGCAGGCTGAGAGACAACAGCAGCCACCGCAGTAGGAACAAAGAAAAGTAGAGTTCAGAGCAGATTCCAGGAGCCAGGCTGCCTGGTTCAAATCCTTGTTCCACCACTGGATTTCAAATTCACAGCCTTAGTCAAGTTACTTAATCCCTCTGTGCCTCAATTTCCTTGTCTATAAAATAAAAATAATGATACAGCCTTCATAGGCTTCTTATGAGAAATAAATTAGTAAATGGCTGTGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCACGGTGGCGCATGCCTGTAATGCCAGCTACCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGAGATGGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCATCTCCATTAAAAAAGAGAGAGAGAGAGAGAGAAAGAAATGAGTAAACATAAAGCAGGGGGAGCATATTTGGCACATGCTAAGTACTATAGAAGCGGTTTTGTTGTCATTACTTACTGAGCAACTACTCTGTGCCAACCACTGAACTGGGAACTGTCATATGTTGCCTCATGTAATCTTCATGATAATCCTGGAGATTATTATTCTCATTGTACAGAGGAGGAAACCGAGGCTCAGATATGTCAAATAACTTATTCAAGTTCTCATTACAAGTTCATGCAAGAAACAGGGATCAAACTCAGTTCTGTCTCACTCTTCCCAGAAACAAACATCAACAGAAAGTGACTCAGCTTTCCCCAACCCCCACTCCCTGACTTCTTTCAGACCTTTCAAAATGTAAGACCCCTTCATCCAGAAAGTCTTTTCTGACTAAACCTGCCCGAATCTGATTGCTTCAGTCCAGGCAGCCCTCTCCTATATGAAGTCGCTGGCTCTTGTGTGCATGTTAAGCTGCCTCTGCCTGTTGCCTCCCATTACATTCACAAACACTCCCTGAGCATCAGTTATTTTCCAGTCAGTGTGCTAGGGCTAGAGGATGTGAGAAATAATCCTCGCCATGGAGGAGTTCTCGATGTTGGGAGAAATAGAAAATTAAATCACAAACCTCATTACAACATGGTAAAGGCAATCATATACATACGGAAAAGGTGCTTTCATCCCTCTTCTGCAGGTGTATACAGTTTATATTGCCAAACAGTGTGTGTGTTCCCTGATGGCACAAACTGTATCTTATGTTTACTTTTTTCTTCCCTATGCCCCAAATAAAGCCTAACTCTTGATTGATTGTCTGATTGATGGTCCAGAGAGGTTAAGTGACTTGCTCAGTAATAGCTAAATTAAAATAATCTCCCACAAATCCTGACTCACAGCCAAGTTTTCATGCTCCCTGAGGGCCTTGGTGTGCCCAGGAACATGTACTCTATTGTACCCAGAGGAGATGGGGAGTAACAGACAAATGACACTCTGGGACTCCGGAGCCTCTACTCACAGATGCAGGTCTCCTGAATGGAAGCTCCCGGGCGCCGGTTCCGGAAATAGTGCAGCTGACACCGCTCACAGTTCTTGCCTTCGGTGTGGTCCCGGCAATTGTCACACACACCTCCATATGCCCCCTGGCTGGCGGCAAACACAGCGGGGTCAAAGTGACATGTCTCTGAGTGCCCATTGCAGTCGCACCCTGGAAAAAGAGAGTCCCAGGGCTGACATCTGACCCACACCTTTGCTATCTACAGAGCATGCTCCACAAAAGCTCACTGGCATCTGTAACAACTCTGCAAGATGATCAAGGCAGGGAAGTGGGGAAACTGAGGGCAAGGGAGGTTTGTATAACTTATTTAAGGTTACATGACCAATAAGAAAGCAGAGGAGAATAAGAACTCAGCCTTCCTGATTCTTACTGTTGGAATAAACCCAAGAACAGTGGCCATGTTGGGCCAAAGAAAGAGCCCTTTGAATGCTCTATCCCCAACCCTCCCACTGCCAACACTGGTCTCCTCCTGGGTCACTGCCTGTCTCCAGGATGAGAATCTCTGTTTTCCTCATTTATGTAAACAAAGGGCCTGATTCTAGGGAGCCATTTGAAGTAGGAAAAATGACAATAGAAAAACCAGATATGTCCTAAACAGGGTAAAGCAACTGGAGAGGCCAGAAGAAGCAGGCTCTAGCTGGGGACAGTGGGAGGATGTCACCCAAATACTCTCTCCATCCTCACAGAGCCAGGAGAGCTTGAATTGTAATGGTGCAATTCAGTTTAGATTTACATAAGAAAGACTGGATCCCCCTGCATCCCAGGTGAGATCATCAAGGCCTAGAGGGGCCAGCACTCGACCCAGACCCTACAGGGGAGGGGTGATCCAAAGCTCCTACTTTGGCATTCATGGGCGTCCTGGCCCTCCGCCGGTCTCCAGGGCCGGTTGTTGTAGAAGGGTGCACAGCGCTCACAATTTGGGCCGGCAGTGTTGTGCTGGCAGACACAGACATCGTGGACCTGGGAGGGGGACCGTCAGCCATCAGGAGTAATCAACAAAGAAGGGCACCAGGGATGGACCTGCCCACTGCCCTCTGACCCTCTGCGCACCACTCAGGATCTGGCTTAGATCCCAACCCTTCCAGGAAGCTTCCTCTGAATGCCGCAGACTTCACCCAGCTCCTGTGAAACTGTCTGCTATTGTTCTGCACATATGAGCATGTGTGTGTGTGCACGTGCGTGTGCCCGCACTGCTCCCCTAGTGAGGTTTTTGCAAGCTCGCTGCTTGCACTTGGACACCCCCATGACACCCAGTCAGAGGCAGCGCTTGGCAGGTGCTCAGACACCCTTGGCAAACTGTGGGATCCAGAAGCTGGTGGGGCCCTCTGGAGATTTCTATTCCAACAATCTATGAATACAGTTGTTTGGTTAATGGAACTGTTGTGATGAACTGTCACTAGACTCATTAAGGTATAAAAATAGAATAGCTGTTGCGTGCTAATTGCCTTCCAAATTAAGCCCAACACCTTCAGCTTGGCATTCAAGGACCTGTATCATGTTAGCTGCATTCTCAGCTCCCATGTCCTGCTGACAGCATAGCAAGATGAACTTCTAGCTGCTCCCTCTGCAAGCCCTACTTTCTCCACCTTTTGGCCTTTAGCAATGGTTTTTCTTCTGCCTAGAATTCTCTTCTCTCTGTATTCATTCACAAAATCCTGCCAGCTAGGCTCCAGCTAGAACGGCACCTCTCTCATAAGGCCTCCCTGGTGCCTCTAATTCCATAGATCTCAACACTGCCTGTACCTCAGTGTCACCTGGGGAACATTTTTTAAAATGCCAAGGTCCAGACCCAATTCACTCTGAATCTCAGGGATGAGACCCAGGCAGTGGCACCTTTTAAAAGTGGTGATTCCACTGCATGGCCAGATTTGAGGACCACCAGGGCTGGGTGGCTCCCTCCCACCTCGTCATGTCATAGCATGTTGTATTCCCTCTGTGTCACTCAGCCTTGGGTTCTAGGAGTATGTCTCATGGGCCCTGACAGATGACACACTCCCTGAGCTGGCCTCCCTCTGTACACCTCTGCAGCCTGGGGCAGAATTTGGCCCAGAAGTGGAAAGAAGAATGCCAGCTGAGGCTTGTGCCACCTCTATTTCCCACTCAGGCCATC
|
GCTGACTCAGTCCCACCTTCCAACTCGGACGTGTGCTGCCACCTGCTGGAGGCCAGTGGCACAGCATCTGGCGCTGGGTAAGAGGGCAAGAAGTCCGGACTCCTGGCAAAGGCCCGGGCATACCCCCTCTGTCTACCCTGCAGTGGGATTTCCTCTGAAGAGAGCACAGTGAGCAGGGCAAGCCGTGGGTCTGGTGGCCCCATGCAGCCCACCCCACGTCATGCTGGGCCAAGCCCCCTACTCACGGTGGCAGCCCTGCGGGTTGGCGTAGGTGAGTCCAGTGAAGCCCGGCTTGCATAGGTCACAGCGCTCTCCCTGCACATGCTCCTTGCACACACACTGCCCGGTCACTGGGTCACAGGGAGCCCCTGGCACTGCCCCATCCGGATCACACTCGCAGGCTGAGAGACAACAGCAGCCACCGCAGTAGGAACAAAGAAAAGTAGAGTTCAGAGCAGATTCCAGGAGCCAGGCTGCCTGGTTCAAATCCTTGTTCCACCACTGGATTTCAAATTCACAGCCTTAGTCAAGTTACTTAATCCCTCTGTGCCTCAATTTCCTTGTCTATAAAATAAAAATAATGATACAGCCTTCATAGGCTTCTTATGAGAAATAAATTAGTAAATGGCTGTGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCACGGTGGCGCATGCCTGTAATGCCAGCTACCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGAGATGGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCATCTCCATTAAAAAAGAGAGAGAGAGAGAGAGAAAGAAATGAGTAAACATAAAGCAGGGGGAGCATATTTGGCACATGCTAAGTACTATAGAAGCGGTTTTGTTGTCATTACTTACTGAGCAACTACTCTGTGCCAACCACTGAACTGGGAACTGTCATATGTTGCCTCATGTAATCTTCATGATAATCCTGGAGATTATTATTCTCATTGTACAGAGGAGGAAACCGAGGCTCAGATATGTCAAATAACTTATTCAAGTTCTCATTACAAGTTCATGCAAGAAACAGGGATCAAACTCAGTTCTGTCTCACTCTTCCCAGAAACAAACATCAACAGAAAGTGACTCAGCTTTCCCCAACCCCCACTCCCTGACTTCTTTCAGACCTTTCAAAATGTAAGACCCCTTCATCCAGAAAGTCTTTTCTGACTAAACCTGCCCGAATCTGATTGCTTCAGTCCAGGCAGCCCTCTCCTATATGAAGTCGCTGGCTCTTGTGTGCATGTTAAGCTGCCTCTGCCTGTTGCCTCCCATTACATTCACAAACACTCCCTGAGCATCAGTTATTTTCCAGTCAGTGTGCTAGGGCTAGAGGATGTGAGAAATAATCCTCGCCATGGAGGAGTTCTCGATGTTGGGAGAAATAGAAAATTAAATCACAAACCTCATTACAACATGGTAAAGGCAATCATATACATACGGAAAAGGTGCTTTCATCCCTCTTCTGCAGGTGTATACAGTTTATATTGCCAAACAGTGTGTGTGTTCCCTGATGGCACAAACTGTATCTTATGTTTACTTTTTTCTTCCCTATGCCCCAAATAAAGCCTAACTCTTGATTGATTGTCTGATTGATGGTCCAGAGAGGTTAAGTGACTTGCTCAGTAATAGCTAAATTAAAATAATCTCCCACAAATCCTGACTCACAGCCAAGTTTTCATGCTCCCTGAGGGCCTTGGTGTGCCCAGGAACATGTACTCTATTGTACCCAGAGGAGATGGGGAGTAACAGACAAATGACACTCTGGGACTCCGGAGCCTCTACTCACAGATGCAGGTCTCCTGAATGGAAGCTCCCGGGCGCCGGTTCCGGAAATAGTGCAGCTGACACCGCTCACAGTTCTTGCCTTCGGTGTGGTCCCGGCAATTGTCACACACACACCTCCATATGCCCCCTGGCTGGCGGCAAACACAGCGGGGTCAAAGTGACATGTCTCTGAGTGCCCATTGCAGTCGCACCCTGGAAAAAGAGAGTCCCAGGGCTGACATCTGACCCACACCTTTGCTATCTACAGAGCATGCTCCACAAAAGCTCACTGGCATCTGTAACAACTCTGCAAGATGATCAAGGCAGGGAAGTGGGGAAACTGAGGGCAAGGGAGGTTTGTATAACTTATTTAAGGTTACATGACCAATAAGAAAGCAGAGGAGAATAAGAACTCAGCCTTCCTGATTCTTACTGTTGGAATAAACCCAAGAACAGTGGCCATGTTGGGCCAAAGAAAGAGCCCTTTGAATGCTCTATCCCCAACCCTCCCACTGCCAACACTGGTCTCCTCCTGGGTCACTGCCTGTCTCCAGGATGAGAATCTCTGTTTTCCTCATTTATGTAAACAAAGGGCCTGATTCTAGGGAGCCATTTGAAGTAGGAAAAATGACAATAGAAAAACCAGATATGTCCTAAACAGGGTAAAGCAACTGGAGAGGCCAGAAGAAGCAGGCTCTAGCTGGGGACAGTGGGAGGATGTCACCCAAATACTCTCTCCATCCTCACAGAGCCAGGAGAGCTTGAATTGTAATGGTGCAATTCAGTTTAGATTTACATAAGAAAGACTGGATCCCCCTGCATCCCAGGTGAGATCATCAAGGCCTAGAGGGGCCAGCACTCGACCCAGACCCTACAGGGGAGGGGTGATCCAAAGCTCCTACTTTGGCATTCATGGGCGTCCTGGCCCTCCGCCGGTCTCCAGGGCCGGTTGTTGTAGAAGGGTGCACAGCGCTCACAATTTGGGCCGGCAGTGTTGTGCTGGCAGACACAGACATCGTGGACCTGGGAGGGGGACCGTCAGCCATCAGGAGTAATCAACAAAGAAGGGCACCAGGGATGGACCTGCCCACTGCCCTCTGACCCTCTGCGCACCACTCAGGATCTGGCTTAGATCCCAACCCTTCCAGGAAGCTTCCTCTGAATGCCGCAGACTTCACCCAGCTCCTGTGAAACTGTCTGCTATTGTTCTGCACATATGAGCATGTGTGTGTGTGCACGTGCGTGTGCCCGCACTGCTCCCCTAGTGAGGTTTTTGCAAGCTCGCTGCTTGCACTTGGACACCCCCATGACACCCAGTCAGAGGCAGCGCTTGGCAGGTGCTCAGACACCCTTGGCAAACTGTGGGATCCAGAAGCTGGTGGGGCCCTCTGGAGATTTCTATTCCAACAATCTATGAATACAGTTGTTTGGTTAATGGAACTGTTGTGATGAACTGTCACTAGACTCATTAAGGTATAAAAATAGAATAGCTGTTGCGTGCTAATTGCCTTCCAAATTAAGCCCAACACCTTCAGCTTGGCATTCAAGGACCTGTATCATGTTAGCTGCATTCTCAGCTCCCATGTCCTGCTGACAGCATAGCAAGATGAACTTCTAGCTGCTCCCTCTGCAAGCCCTACTTTCTCCACCTTTTGGCCTTTAGCAATGGTTTTTCTTCTGCCTAGAATTCTCTTCTCTCTGTATTCATTCACAAAATCCTGCCAGCTAGGCTCCAGCTAGAACGGCACCTCTCTCATAAGGCCTCCCTGGTGCCTCTAATTCCATAGATCTCAACACTGCCTGTACCTCAGTGTCACCTGGGGAACATTTTTTAAAATGCCAAGGTCCAGACCCAATTCACTCTGAATCTCAGGGATGAGACCCAGGCAGTGGCACCTTTTAAAAGTGGTGATTCCACTGCATGGCCAGATTTGAGGACCACCAGGGCTGGGTGGCTCCCTCCCACCTCGTCATGTCATAGCATGTTGTATTCCCTCTGTGTCACTCAGCCTTGGGTTCTAGGAGTATGTCTCATGGGCCCTGACAGATGACACACTCCCTGAGCTGGCCTCCCTCTGTACACCTCTGCAGCCTGGGGCAGAATTTGGCCCAGAAGTGGAAAGAAGAATGCCAGCTGAGGCTTGTGCCACCTCTATTTCCCACTCAGGCCA
|
pathogenic
| 21,277
|
Considering the variant on chromosome 1, location 209629890, involving gene LAMB3 (laminin subunit beta 3), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz']
|
CCAGTGGCACAGCATCTGGCGCTGGGTAAGAGGGCAAGAAGTCCGGACTCCTGGCAAAGGCCCGGGCATACCCCCTCTGTCTACCCTGCAGTGGGATTTCCTCTGAAGAGAGCACAGTGAGCAGGGCAAGCCGTGGGTCTGGTGGCCCCATGCAGCCCACCCCACGTCATGCTGGGCCAAGCCCCCTACTCACGGTGGCAGCCCTGCGGGTTGGCGTAGGTGAGTCCAGTGAAGCCCGGCTTGCATAGGTCACAGCGCTCTCCCTGCACATGCTCCTTGCACACACACTGCCCGGTCACTGGGTCACAGGGAGCCCCTGGCACTGCCCCATCCGGATCACACTCGCAGGCTGAGAGACAACAGCAGCCACCGCAGTAGGAACAAAGAAAAGTAGAGTTCAGAGCAGATTCCAGGAGCCAGGCTGCCTGGTTCAAATCCTTGTTCCACCACTGGATTTCAAATTCACAGCCTTAGTCAAGTTACTTAATCCCTCTGTGCCTCAATTTCCTTGTCTATAAAATAAAAATAATGATACAGCCTTCATAGGCTTCTTATGAGAAATAAATTAGTAAATGGCTGTGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCACGGTGGCGCATGCCTGTAATGCCAGCTACCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGAGATGGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCATCTCCATTAAAAAAGAGAGAGAGAGAGAGAGAAAGAAATGAGTAAACATAAAGCAGGGGGAGCATATTTGGCACATGCTAAGTACTATAGAAGCGGTTTTGTTGTCATTACTTACTGAGCAACTACTCTGTGCCAACCACTGAACTGGGAACTGTCATATGTTGCCTCATGTAATCTTCATGATAATCCTGGAGATTATTATTCTCATTGTACAGAGGAGGAAACCGAGGCTCAGATATGTCAAATAACTTATTCAAGTTCTCATTACAAGTTCATGCAAGAAACAGGGATCAAACTCAGTTCTGTCTCACTCTTCCCAGAAACAAACATCAACAGAAAGTGACTCAGCTTTCCCCAACCCCCACTCCCTGACTTCTTTCAGACCTTTCAAAATGTAAGACCCCTTCATCCAGAAAGTCTTTTCTGACTAAACCTGCCCGAATCTGATTGCTTCAGTCCAGGCAGCCCTCTCCTATATGAAGTCGCTGGCTCTTGTGTGCATGTTAAGCTGCCTCTGCCTGTTGCCTCCCATTACATTCACAAACACTCCCTGAGCATCAGTTATTTTCCAGTCAGTGTGCTAGGGCTAGAGGATGTGAGAAATAATCCTCGCCATGGAGGAGTTCTCGATGTTGGGAGAAATAGAAAATTAAATCACAAACCTCATTACAACATGGTAAAGGCAATCATATACATACGGAAAAGGTGCTTTCATCCCTCTTCTGCAGGTGTATACAGTTTATATTGCCAAACAGTGTGTGTGTTCCCTGATGGCACAAACTGTATCTTATGTTTACTTTTTTCTTCCCTATGCCCCAAATAAAGCCTAACTCTTGATTGATTGTCTGATTGATGGTCCAGAGAGGTTAAGTGACTTGCTCAGTAATAGCTAAATTAAAATAATCTCCCACAAATCCTGACTCACAGCCAAGTTTTCATGCTCCCTGAGGGCCTTGGTGTGCCCAGGAACATGTACTCTATTGTACCCAGAGGAGATGGGGAGTAACAGACAAATGACACTCTGGGACTCCGGAGCCTCTACTCACAGATGCAGGTCTCCTGAATGGAAGCTCCCGGGCGCCGGTTCCGGAAATAGTGCAGCTGACACCGCTCACAGTTCTTGCCTTCGGTGTGGTCCCGGCAATTGTCACACACACCTCCATATGCCCCCTGGCTGGCGGCAAACACAGCGGGGTCAAAGTGACATGTCTCTGAGTGCCCATTGCAGTCGCACCCTGGAAAAAGAGAGTCCCAGGGCTGACATCTGACCCACACCTTTGCTATCTACAGAGCATGCTCCACAAAAGCTCACTGGCATCTGTAACAACTCTGCAAGATGATCAAGGCAGGGAAGTGGGGAAACTGAGGGCAAGGGAGGTTTGTATAACTTATTTAAGGTTACATGACCAATAAGAAAGCAGAGGAGAATAAGAACTCAGCCTTCCTGATTCTTACTGTTGGAATAAACCCAAGAACAGTGGCCATGTTGGGCCAAAGAAAGAGCCCTTTGAATGCTCTATCCCCAACCCTCCCACTGCCAACACTGGTCTCCTCCTGGGTCACTGCCTGTCTCCAGGATGAGAATCTCTGTTTTCCTCATTTATGTAAACAAAGGGCCTGATTCTAGGGAGCCATTTGAAGTAGGAAAAATGACAATAGAAAAACCAGATATGTCCTAAACAGGGTAAAGCAACTGGAGAGGCCAGAAGAAGCAGGCTCTAGCTGGGGACAGTGGGAGGATGTCACCCAAATACTCTCTCCATCCTCACAGAGCCAGGAGAGCTTGAATTGTAATGGTGCAATTCAGTTTAGATTTACATAAGAAAGACTGGATCCCCCTGCATCCCAGGTGAGATCATCAAGGCCTAGAGGGGCCAGCACTCGACCCAGACCCTACAGGGGAGGGGTGATCCAAAGCTCCTACTTTGGCATTCATGGGCGTCCTGGCCCTCCGCCGGTCTCCAGGGCCGGTTGTTGTAGAAGGGTGCACAGCGCTCACAATTTGGGCCGGCAGTGTTGTGCTGGCAGACACAGACATCGTGGACCTGGGAGGGGGACCGTCAGCCATCAGGAGTAATCAACAAAGAAGGGCACCAGGGATGGACCTGCCCACTGCCCTCTGACCCTCTGCGCACCACTCAGGATCTGGCTTAGATCCCAACCCTTCCAGGAAGCTTCCTCTGAATGCCGCAGACTTCACCCAGCTCCTGTGAAACTGTCTGCTATTGTTCTGCACATATGAGCATGTGTGTGTGTGCACGTGCGTGTGCCCGCACTGCTCCCCTAGTGAGGTTTTTGCAAGCTCGCTGCTTGCACTTGGACACCCCCATGACACCCAGTCAGAGGCAGCGCTTGGCAGGTGCTCAGACACCCTTGGCAAACTGTGGGATCCAGAAGCTGGTGGGGCCCTCTGGAGATTTCTATTCCAACAATCTATGAATACAGTTGTTTGGTTAATGGAACTGTTGTGATGAACTGTCACTAGACTCATTAAGGTATAAAAATAGAATAGCTGTTGCGTGCTAATTGCCTTCCAAATTAAGCCCAACACCTTCAGCTTGGCATTCAAGGACCTGTATCATGTTAGCTGCATTCTCAGCTCCCATGTCCTGCTGACAGCATAGCAAGATGAACTTCTAGCTGCTCCCTCTGCAAGCCCTACTTTCTCCACCTTTTGGCCTTTAGCAATGGTTTTTCTTCTGCCTAGAATTCTCTTCTCTCTGTATTCATTCACAAAATCCTGCCAGCTAGGCTCCAGCTAGAACGGCACCTCTCTCATAAGGCCTCCCTGGTGCCTCTAATTCCATAGATCTCAACACTGCCTGTACCTCAGTGTCACCTGGGGAACATTTTTTAAAATGCCAAGGTCCAGACCCAATTCACTCTGAATCTCAGGGATGAGACCCAGGCAGTGGCACCTTTTAAAAGTGGTGATTCCACTGCATGGCCAGATTTGAGGACCACCAGGGCTGGGTGGCTCCCTCCCACCTCGTCATGTCATAGCATGTTGTATTCCCTCTGTGTCACTCAGCCTTGGGTTCTAGGAGTATGTCTCATGGGCCCTGACAGATGACACACTCCCTGAGCTGGCCTCCCTCTGTACACCTCTGCAGCCTGGGGCAGAATTTGGCCCAGAAGTGGAAAGAAGAATGCCAGCTGAGGCTTGTGCCACCTCTATTTCCCACTCAGGCCATCTTACATGATTTCCTCCTGTCCCCCTGTCACTAGGACAGCTGTCACGCTCCCA
|
CCAGTGGCACAGCATCTGGCGCTGGGTAAGAGGGCAAGAAGTCCGGACTCCTGGCAAAGGCCCGGGCATACCCCCTCTGTCTACCCTGCAGTGGGATTTCCTCTGAAGAGAGCACAGTGAGCAGGGCAAGCCGTGGGTCTGGTGGCCCCATGCAGCCCACCCCACGTCATGCTGGGCCAAGCCCCCTACTCACGGTGGCAGCCCTGCGGGTTGGCGTAGGTGAGTCCAGTGAAGCCCGGCTTGCATAGGTCACAGCGCTCTCCCTGCACATGCTCCTTGCACACACACTGCCCGGTCACTGGGTCACAGGGAGCCCCTGGCACTGCCCCATCCGGATCACACTCGCAGGCTGAGAGACAACAGCAGCCACCGCAGTAGGAACAAAGAAAAGTAGAGTTCAGAGCAGATTCCAGGAGCCAGGCTGCCTGGTTCAAATCCTTGTTCCACCACTGGATTTCAAATTCACAGCCTTAGTCAAGTTACTTAATCCCTCTGTGCCTCAATTTCCTTGTCTATAAAATAAAAATAATGATACAGCCTTCATAGGCTTCTTATGAGAAATAAATTAGTAAATGGCTGTGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCACGGTGGCGCATGCCTGTAATGCCAGCTACCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGAGATGGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCATCTCCATTAAAAAAGAGAGAGAGAGAGAGAGAAAGAAATGAGTAAACATAAAGCAGGGGGAGCATATTTGGCACATGCTAAGTACTATAGAAGCGGTTTTGTTGTCATTACTTACTGAGCAACTACTCTGTGCCAACCACTGAACTGGGAACTGTCATATGTTGCCTCATGTAATCTTCATGATAATCCTGGAGATTATTATTCTCATTGTACAGAGGAGGAAACCGAGGCTCAGATATGTCAAATAACTTATTCAAGTTCTCATTACAAGTTCATGCAAGAAACAGGGATCAAACTCAGTTCTGTCTCACTCTTCCCAGAAACAAACATCAACAGAAAGTGACTCAGCTTTCCCCAACCCCCACTCCCTGACTTCTTTCAGACCTTTCAAAATGTAAGACCCCTTCATCCAGAAAGTCTTTTCTGACTAAACCTGCCCGAATCTGATTGCTTCAGTCCAGGCAGCCCTCTCCTATATGAAGTCGCTGGCTCTTGTGTGCATGTTAAGCTGCCTCTGCCTGTTGCCTCCCATTACATTCACAAACACTCCCTGAGCATCAGTTATTTTCCAGTCAGTGTGCTAGGGCTAGAGGATGTGAGAAATAATCCTCGCCATGGAGGAGTTCTCGATGTTGGGAGAAATAGAAAATTAAATCACAAACCTCATTACAACATGGTAAAGGCAATCATATACATACGGAAAAGGTGCTTTCATCCCTCTTCTGCAGGTGTATACAGTTTATATTGCCAAACAGTGTGTGTGTTCCCTGATGGCACAAACTGTATCTTATGTTTACTTTTTTCTTCCCTATGCCCCAAATAAAGCCTAACTCTTGATTGATTGTCTGATTGATGGTCCAGAGAGGTTAAGTGACTTGCTCAGTAATAGCTAAATTAAAATAATCTCCCACAAATCCTGACTCACAGCCAAGTTTTCATGCTCCCTGAGGGCCTTGGTGTGCCCAGGAACATGTACTCTATTGTACCCAGAGGAGATGGGGAGTAACAGACAAATGACACTCTGGGACTCCGGAGCCTCTACTCACAGATGCAGGTCTCCTGAATGGAAGCTCCCGGGCGCCGGTTCCGGAAATAGTGCAGCTGACACCGCTCACAGTTCTTGCCTTCGGTGTGGTCCCGGCAATTGTCACACACACCTCCATATGCCCCCTGGCTGGCGGCAAACACAGCGGGGTCAAATGACATGTCTCTGAGTGCCCATTGCAGTCGCACCCTGGAAAAAGAGAGTCCCAGGGCTGACATCTGACCCACACCTTTGCTATCTACAGAGCATGCTCCACAAAAGCTCACTGGCATCTGTAACAACTCTGCAAGATGATCAAGGCAGGGAAGTGGGGAAACTGAGGGCAAGGGAGGTTTGTATAACTTATTTAAGGTTACATGACCAATAAGAAAGCAGAGGAGAATAAGAACTCAGCCTTCCTGATTCTTACTGTTGGAATAAACCCAAGAACAGTGGCCATGTTGGGCCAAAGAAAGAGCCCTTTGAATGCTCTATCCCCAACCCTCCCACTGCCAACACTGGTCTCCTCCTGGGTCACTGCCTGTCTCCAGGATGAGAATCTCTGTTTTCCTCATTTATGTAAACAAAGGGCCTGATTCTAGGGAGCCATTTGAAGTAGGAAAAATGACAATAGAAAAACCAGATATGTCCTAAACAGGGTAAAGCAACTGGAGAGGCCAGAAGAAGCAGGCTCTAGCTGGGGACAGTGGGAGGATGTCACCCAAATACTCTCTCCATCCTCACAGAGCCAGGAGAGCTTGAATTGTAATGGTGCAATTCAGTTTAGATTTACATAAGAAAGACTGGATCCCCCTGCATCCCAGGTGAGATCATCAAGGCCTAGAGGGGCCAGCACTCGACCCAGACCCTACAGGGGAGGGGTGATCCAAAGCTCCTACTTTGGCATTCATGGGCGTCCTGGCCCTCCGCCGGTCTCCAGGGCCGGTTGTTGTAGAAGGGTGCACAGCGCTCACAATTTGGGCCGGCAGTGTTGTGCTGGCAGACACAGACATCGTGGACCTGGGAGGGGGACCGTCAGCCATCAGGAGTAATCAACAAAGAAGGGCACCAGGGATGGACCTGCCCACTGCCCTCTGACCCTCTGCGCACCACTCAGGATCTGGCTTAGATCCCAACCCTTCCAGGAAGCTTCCTCTGAATGCCGCAGACTTCACCCAGCTCCTGTGAAACTGTCTGCTATTGTTCTGCACATATGAGCATGTGTGTGTGTGCACGTGCGTGTGCCCGCACTGCTCCCCTAGTGAGGTTTTTGCAAGCTCGCTGCTTGCACTTGGACACCCCCATGACACCCAGTCAGAGGCAGCGCTTGGCAGGTGCTCAGACACCCTTGGCAAACTGTGGGATCCAGAAGCTGGTGGGGCCCTCTGGAGATTTCTATTCCAACAATCTATGAATACAGTTGTTTGGTTAATGGAACTGTTGTGATGAACTGTCACTAGACTCATTAAGGTATAAAAATAGAATAGCTGTTGCGTGCTAATTGCCTTCCAAATTAAGCCCAACACCTTCAGCTTGGCATTCAAGGACCTGTATCATGTTAGCTGCATTCTCAGCTCCCATGTCCTGCTGACAGCATAGCAAGATGAACTTCTAGCTGCTCCCTCTGCAAGCCCTACTTTCTCCACCTTTTGGCCTTTAGCAATGGTTTTTCTTCTGCCTAGAATTCTCTTCTCTCTGTATTCATTCACAAAATCCTGCCAGCTAGGCTCCAGCTAGAACGGCACCTCTCTCATAAGGCCTCCCTGGTGCCTCTAATTCCATAGATCTCAACACTGCCTGTACCTCAGTGTCACCTGGGGAACATTTTTTAAAATGCCAAGGTCCAGACCCAATTCACTCTGAATCTCAGGGATGAGACCCAGGCAGTGGCACCTTTTAAAAGTGGTGATTCCACTGCATGGCCAGATTTGAGGACCACCAGGGCTGGGTGGCTCCCTCCCACCTCGTCATGTCATAGCATGTTGTATTCCCTCTGTGTCACTCAGCCTTGGGTTCTAGGAGTATGTCTCATGGGCCCTGACAGATGACACACTCCCTGAGCTGGCCTCCCTCTGTACACCTCTGCAGCCTGGGGCAGAATTTGGCCCAGAAGTGGAAAGAAGAATGCCAGCTGAGGCTTGTGCCACCTCTATTTCCCACTCAGGCCATCTTACATGATTTCCTCCTGTCCCCCTGTCACTAGGACAGCTGTCACGCTCCCAN
|
pathogenic
| 21,280
|
Clinical significance of chromosome 1, position 209629891, gene LAMB3 (laminin subunit beta 3): benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz']
|
CAGTGGCACAGCATCTGGCGCTGGGTAAGAGGGCAAGAAGTCCGGACTCCTGGCAAAGGCCCGGGCATACCCCCTCTGTCTACCCTGCAGTGGGATTTCCTCTGAAGAGAGCACAGTGAGCAGGGCAAGCCGTGGGTCTGGTGGCCCCATGCAGCCCACCCCACGTCATGCTGGGCCAAGCCCCCTACTCACGGTGGCAGCCCTGCGGGTTGGCGTAGGTGAGTCCAGTGAAGCCCGGCTTGCATAGGTCACAGCGCTCTCCCTGCACATGCTCCTTGCACACACACTGCCCGGTCACTGGGTCACAGGGAGCCCCTGGCACTGCCCCATCCGGATCACACTCGCAGGCTGAGAGACAACAGCAGCCACCGCAGTAGGAACAAAGAAAAGTAGAGTTCAGAGCAGATTCCAGGAGCCAGGCTGCCTGGTTCAAATCCTTGTTCCACCACTGGATTTCAAATTCACAGCCTTAGTCAAGTTACTTAATCCCTCTGTGCCTCAATTTCCTTGTCTATAAAATAAAAATAATGATACAGCCTTCATAGGCTTCTTATGAGAAATAAATTAGTAAATGGCTGTGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCACGGTGGCGCATGCCTGTAATGCCAGCTACCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGAGATGGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCATCTCCATTAAAAAAGAGAGAGAGAGAGAGAGAAAGAAATGAGTAAACATAAAGCAGGGGGAGCATATTTGGCACATGCTAAGTACTATAGAAGCGGTTTTGTTGTCATTACTTACTGAGCAACTACTCTGTGCCAACCACTGAACTGGGAACTGTCATATGTTGCCTCATGTAATCTTCATGATAATCCTGGAGATTATTATTCTCATTGTACAGAGGAGGAAACCGAGGCTCAGATATGTCAAATAACTTATTCAAGTTCTCATTACAAGTTCATGCAAGAAACAGGGATCAAACTCAGTTCTGTCTCACTCTTCCCAGAAACAAACATCAACAGAAAGTGACTCAGCTTTCCCCAACCCCCACTCCCTGACTTCTTTCAGACCTTTCAAAATGTAAGACCCCTTCATCCAGAAAGTCTTTTCTGACTAAACCTGCCCGAATCTGATTGCTTCAGTCCAGGCAGCCCTCTCCTATATGAAGTCGCTGGCTCTTGTGTGCATGTTAAGCTGCCTCTGCCTGTTGCCTCCCATTACATTCACAAACACTCCCTGAGCATCAGTTATTTTCCAGTCAGTGTGCTAGGGCTAGAGGATGTGAGAAATAATCCTCGCCATGGAGGAGTTCTCGATGTTGGGAGAAATAGAAAATTAAATCACAAACCTCATTACAACATGGTAAAGGCAATCATATACATACGGAAAAGGTGCTTTCATCCCTCTTCTGCAGGTGTATACAGTTTATATTGCCAAACAGTGTGTGTGTTCCCTGATGGCACAAACTGTATCTTATGTTTACTTTTTTCTTCCCTATGCCCCAAATAAAGCCTAACTCTTGATTGATTGTCTGATTGATGGTCCAGAGAGGTTAAGTGACTTGCTCAGTAATAGCTAAATTAAAATAATCTCCCACAAATCCTGACTCACAGCCAAGTTTTCATGCTCCCTGAGGGCCTTGGTGTGCCCAGGAACATGTACTCTATTGTACCCAGAGGAGATGGGGAGTAACAGACAAATGACACTCTGGGACTCCGGAGCCTCTACTCACAGATGCAGGTCTCCTGAATGGAAGCTCCCGGGCGCCGGTTCCGGAAATAGTGCAGCTGACACCGCTCACAGTTCTTGCCTTCGGTGTGGTCCCGGCAATTGTCACACACACCTCCATATGCCCCCTGGCTGGCGGCAAACACAGCGGGGTCAAAGTGACATGTCTCTGAGTGCCCATTGCAGTCGCACCCTGGAAAAAGAGAGTCCCAGGGCTGACATCTGACCCACACCTTTGCTATCTACAGAGCATGCTCCACAAAAGCTCACTGGCATCTGTAACAACTCTGCAAGATGATCAAGGCAGGGAAGTGGGGAAACTGAGGGCAAGGGAGGTTTGTATAACTTATTTAAGGTTACATGACCAATAAGAAAGCAGAGGAGAATAAGAACTCAGCCTTCCTGATTCTTACTGTTGGAATAAACCCAAGAACAGTGGCCATGTTGGGCCAAAGAAAGAGCCCTTTGAATGCTCTATCCCCAACCCTCCCACTGCCAACACTGGTCTCCTCCTGGGTCACTGCCTGTCTCCAGGATGAGAATCTCTGTTTTCCTCATTTATGTAAACAAAGGGCCTGATTCTAGGGAGCCATTTGAAGTAGGAAAAATGACAATAGAAAAACCAGATATGTCCTAAACAGGGTAAAGCAACTGGAGAGGCCAGAAGAAGCAGGCTCTAGCTGGGGACAGTGGGAGGATGTCACCCAAATACTCTCTCCATCCTCACAGAGCCAGGAGAGCTTGAATTGTAATGGTGCAATTCAGTTTAGATTTACATAAGAAAGACTGGATCCCCCTGCATCCCAGGTGAGATCATCAAGGCCTAGAGGGGCCAGCACTCGACCCAGACCCTACAGGGGAGGGGTGATCCAAAGCTCCTACTTTGGCATTCATGGGCGTCCTGGCCCTCCGCCGGTCTCCAGGGCCGGTTGTTGTAGAAGGGTGCACAGCGCTCACAATTTGGGCCGGCAGTGTTGTGCTGGCAGACACAGACATCGTGGACCTGGGAGGGGGACCGTCAGCCATCAGGAGTAATCAACAAAGAAGGGCACCAGGGATGGACCTGCCCACTGCCCTCTGACCCTCTGCGCACCACTCAGGATCTGGCTTAGATCCCAACCCTTCCAGGAAGCTTCCTCTGAATGCCGCAGACTTCACCCAGCTCCTGTGAAACTGTCTGCTATTGTTCTGCACATATGAGCATGTGTGTGTGTGCACGTGCGTGTGCCCGCACTGCTCCCCTAGTGAGGTTTTTGCAAGCTCGCTGCTTGCACTTGGACACCCCCATGACACCCAGTCAGAGGCAGCGCTTGGCAGGTGCTCAGACACCCTTGGCAAACTGTGGGATCCAGAAGCTGGTGGGGCCCTCTGGAGATTTCTATTCCAACAATCTATGAATACAGTTGTTTGGTTAATGGAACTGTTGTGATGAACTGTCACTAGACTCATTAAGGTATAAAAATAGAATAGCTGTTGCGTGCTAATTGCCTTCCAAATTAAGCCCAACACCTTCAGCTTGGCATTCAAGGACCTGTATCATGTTAGCTGCATTCTCAGCTCCCATGTCCTGCTGACAGCATAGCAAGATGAACTTCTAGCTGCTCCCTCTGCAAGCCCTACTTTCTCCACCTTTTGGCCTTTAGCAATGGTTTTTCTTCTGCCTAGAATTCTCTTCTCTCTGTATTCATTCACAAAATCCTGCCAGCTAGGCTCCAGCTAGAACGGCACCTCTCTCATAAGGCCTCCCTGGTGCCTCTAATTCCATAGATCTCAACACTGCCTGTACCTCAGTGTCACCTGGGGAACATTTTTTAAAATGCCAAGGTCCAGACCCAATTCACTCTGAATCTCAGGGATGAGACCCAGGCAGTGGCACCTTTTAAAAGTGGTGATTCCACTGCATGGCCAGATTTGAGGACCACCAGGGCTGGGTGGCTCCCTCCCACCTCGTCATGTCATAGCATGTTGTATTCCCTCTGTGTCACTCAGCCTTGGGTTCTAGGAGTATGTCTCATGGGCCCTGACAGATGACACACTCCCTGAGCTGGCCTCCCTCTGTACACCTCTGCAGCCTGGGGCAGAATTTGGCCCAGAAGTGGAAAGAAGAATGCCAGCTGAGGCTTGTGCCACCTCTATTTCCCACTCAGGCCATCTTACATGATTTCCTCCTGTCCCCCTGTCACTAGGACAGCTGTCACGCTCCCAT
|
CAGTGGCACAGCATCTGGCGCTGGGTAAGAGGGCAAGAAGTCCGGACTCCTGGCAAAGGCCCGGGCATACCCCCTCTGTCTACCCTGCAGTGGGATTTCCTCTGAAGAGAGCACAGTGAGCAGGGCAAGCCGTGGGTCTGGTGGCCCCATGCAGCCCACCCCACGTCATGCTGGGCCAAGCCCCCTACTCACGGTGGCAGCCCTGCGGGTTGGCGTAGGTGAGTCCAGTGAAGCCCGGCTTGCATAGGTCACAGCGCTCTCCCTGCACATGCTCCTTGCACACACACTGCCCGGTCACTGGGTCACAGGGAGCCCCTGGCACTGCCCCATCCGGATCACACTCGCAGGCTGAGAGACAACAGCAGCCACCGCAGTAGGAACAAAGAAAAGTAGAGTTCAGAGCAGATTCCAGGAGCCAGGCTGCCTGGTTCAAATCCTTGTTCCACCACTGGATTTCAAATTCACAGCCTTAGTCAAGTTACTTAATCCCTCTGTGCCTCAATTTCCTTGTCTATAAAATAAAAATAATGATACAGCCTTCATAGGCTTCTTATGAGAAATAAATTAGTAAATGGCTGTGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCACGGTGGCGCATGCCTGTAATGCCAGCTACCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGAGATGGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCATCTCCATTAAAAAAGAGAGAGAGAGAGAGAGAAAGAAATGAGTAAACATAAAGCAGGGGGAGCATATTTGGCACATGCTAAGTACTATAGAAGCGGTTTTGTTGTCATTACTTACTGAGCAACTACTCTGTGCCAACCACTGAACTGGGAACTGTCATATGTTGCCTCATGTAATCTTCATGATAATCCTGGAGATTATTATTCTCATTGTACAGAGGAGGAAACCGAGGCTCAGATATGTCAAATAACTTATTCAAGTTCTCATTACAAGTTCATGCAAGAAACAGGGATCAAACTCAGTTCTGTCTCACTCTTCCCAGAAACAAACATCAACAGAAAGTGACTCAGCTTTCCCCAACCCCCACTCCCTGACTTCTTTCAGACCTTTCAAAATGTAAGACCCCTTCATCCAGAAAGTCTTTTCTGACTAAACCTGCCCGAATCTGATTGCTTCAGTCCAGGCAGCCCTCTCCTATATGAAGTCGCTGGCTCTTGTGTGCATGTTAAGCTGCCTCTGCCTGTTGCCTCCCATTACATTCACAAACACTCCCTGAGCATCAGTTATTTTCCAGTCAGTGTGCTAGGGCTAGAGGATGTGAGAAATAATCCTCGCCATGGAGGAGTTCTCGATGTTGGGAGAAATAGAAAATTAAATCACAAACCTCATTACAACATGGTAAAGGCAATCATATACATACGGAAAAGGTGCTTTCATCCCTCTTCTGCAGGTGTATACAGTTTATATTGCCAAACAGTGTGTGTGTTCCCTGATGGCACAAACTGTATCTTATGTTTACTTTTTTCTTCCCTATGCCCCAAATAAAGCCTAACTCTTGATTGATTGTCTGATTGATGGTCCAGAGAGGTTAAGTGACTTGCTCAGTAATAGCTAAATTAAAATAATCTCCCACAAATCCTGACTCACAGCCAAGTTTTCATGCTCCCTGAGGGCCTTGGTGTGCCCAGGAACATGTACTCTATTGTACCCAGAGGAGATGGGGAGTAACAGACAAATGACACTCTGGGACTCCGGAGCCTCTACTCACAGATGCAGGTCTCCTGAATGGAAGCTCCCGGGCGCCGGTTCCGGAAATAGTGCAGCTGACACCGCTCACAGTTCTTGCCTTCGGTGTGGTCCCGGCAATTGTCACACACACCTCCATATGCCCCCTGGCTGGCGGCAAACACAGCGGGGTCAAAGGACATGTCTCTGAGTGCCCATTGCAGTCGCACCCTGGAAAAAGAGAGTCCCAGGGCTGACATCTGACCCACACCTTTGCTATCTACAGAGCATGCTCCACAAAAGCTCACTGGCATCTGTAACAACTCTGCAAGATGATCAAGGCAGGGAAGTGGGGAAACTGAGGGCAAGGGAGGTTTGTATAACTTATTTAAGGTTACATGACCAATAAGAAAGCAGAGGAGAATAAGAACTCAGCCTTCCTGATTCTTACTGTTGGAATAAACCCAAGAACAGTGGCCATGTTGGGCCAAAGAAAGAGCCCTTTGAATGCTCTATCCCCAACCCTCCCACTGCCAACACTGGTCTCCTCCTGGGTCACTGCCTGTCTCCAGGATGAGAATCTCTGTTTTCCTCATTTATGTAAACAAAGGGCCTGATTCTAGGGAGCCATTTGAAGTAGGAAAAATGACAATAGAAAAACCAGATATGTCCTAAACAGGGTAAAGCAACTGGAGAGGCCAGAAGAAGCAGGCTCTAGCTGGGGACAGTGGGAGGATGTCACCCAAATACTCTCTCCATCCTCACAGAGCCAGGAGAGCTTGAATTGTAATGGTGCAATTCAGTTTAGATTTACATAAGAAAGACTGGATCCCCCTGCATCCCAGGTGAGATCATCAAGGCCTAGAGGGGCCAGCACTCGACCCAGACCCTACAGGGGAGGGGTGATCCAAAGCTCCTACTTTGGCATTCATGGGCGTCCTGGCCCTCCGCCGGTCTCCAGGGCCGGTTGTTGTAGAAGGGTGCACAGCGCTCACAATTTGGGCCGGCAGTGTTGTGCTGGCAGACACAGACATCGTGGACCTGGGAGGGGGACCGTCAGCCATCAGGAGTAATCAACAAAGAAGGGCACCAGGGATGGACCTGCCCACTGCCCTCTGACCCTCTGCGCACCACTCAGGATCTGGCTTAGATCCCAACCCTTCCAGGAAGCTTCCTCTGAATGCCGCAGACTTCACCCAGCTCCTGTGAAACTGTCTGCTATTGTTCTGCACATATGAGCATGTGTGTGTGTGCACGTGCGTGTGCCCGCACTGCTCCCCTAGTGAGGTTTTTGCAAGCTCGCTGCTTGCACTTGGACACCCCCATGACACCCAGTCAGAGGCAGCGCTTGGCAGGTGCTCAGACACCCTTGGCAAACTGTGGGATCCAGAAGCTGGTGGGGCCCTCTGGAGATTTCTATTCCAACAATCTATGAATACAGTTGTTTGGTTAATGGAACTGTTGTGATGAACTGTCACTAGACTCATTAAGGTATAAAAATAGAATAGCTGTTGCGTGCTAATTGCCTTCCAAATTAAGCCCAACACCTTCAGCTTGGCATTCAAGGACCTGTATCATGTTAGCTGCATTCTCAGCTCCCATGTCCTGCTGACAGCATAGCAAGATGAACTTCTAGCTGCTCCCTCTGCAAGCCCTACTTTCTCCACCTTTTGGCCTTTAGCAATGGTTTTTCTTCTGCCTAGAATTCTCTTCTCTCTGTATTCATTCACAAAATCCTGCCAGCTAGGCTCCAGCTAGAACGGCACCTCTCTCATAAGGCCTCCCTGGTGCCTCTAATTCCATAGATCTCAACACTGCCTGTACCTCAGTGTCACCTGGGGAACATTTTTTAAAATGCCAAGGTCCAGACCCAATTCACTCTGAATCTCAGGGATGAGACCCAGGCAGTGGCACCTTTTAAAAGTGGTGATTCCACTGCATGGCCAGATTTGAGGACCACCAGGGCTGGGTGGCTCCCTCCCACCTCGTCATGTCATAGCATGTTGTATTCCCTCTGTGTCACTCAGCCTTGGGTTCTAGGAGTATGTCTCATGGGCCCTGACAGATGACACACTCCCTGAGCTGGCCTCCCTCTGTACACCTCTGCAGCCTGGGGCAGAATTTGGCCCAGAAGTGGAAAGAAGAATGCCAGCTGAGGCTTGTGCCACCTCTATTTCCCACTCAGGCCATCTTACATGATTTCCTCCTGTCCCCCTGTCACTAGGACAGCTGTCACGCTCCCATN
|
pathogenic
| 21,281
|
Clinically, how would you classify the variant at chromosome 1, position 209633075, gene LAMB3 (laminin subunit beta 3): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Junctional_epidermolysis_bullosa', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz']
|
CAGTCAGAGGCAGCGCTTGGCAGGTGCTCAGACACCCTTGGCAAACTGTGGGATCCAGAAGCTGGTGGGGCCCTCTGGAGATTTCTATTCCAACAATCTATGAATACAGTTGTTTGGTTAATGGAACTGTTGTGATGAACTGTCACTAGACTCATTAAGGTATAAAAATAGAATAGCTGTTGCGTGCTAATTGCCTTCCAAATTAAGCCCAACACCTTCAGCTTGGCATTCAAGGACCTGTATCATGTTAGCTGCATTCTCAGCTCCCATGTCCTGCTGACAGCATAGCAAGATGAACTTCTAGCTGCTCCCTCTGCAAGCCCTACTTTCTCCACCTTTTGGCCTTTAGCAATGGTTTTTCTTCTGCCTAGAATTCTCTTCTCTCTGTATTCATTCACAAAATCCTGCCAGCTAGGCTCCAGCTAGAACGGCACCTCTCTCATAAGGCCTCCCTGGTGCCTCTAATTCCATAGATCTCAACACTGCCTGTACCTCAGTGTCACCTGGGGAACATTTTTTAAAATGCCAAGGTCCAGACCCAATTCACTCTGAATCTCAGGGATGAGACCCAGGCAGTGGCACCTTTTAAAAGTGGTGATTCCACTGCATGGCCAGATTTGAGGACCACCAGGGCTGGGTGGCTCCCTCCCACCTCGTCATGTCATAGCATGTTGTATTCCCTCTGTGTCACTCAGCCTTGGGTTCTAGGAGTATGTCTCATGGGCCCTGACAGATGACACACTCCCTGAGCTGGCCTCCCTCTGTACACCTCTGCAGCCTGGGGCAGAATTTGGCCCAGAAGTGGAAAGAAGAATGCCAGCTGAGGCTTGTGCCACCTCTATTTCCCACTCAGGCCATCTTACATGATTTCCTCCTGTCCCCCTGTCACTAGGACAGCTGTCACGCTCCCATGTTGGGTCCCTCTGCTTCTTTGCTCAAGGTTCTCTCTTCTCTACCTGTGGTTCTCAAGCTTGGTTTCACAGCAAAACCCCTTGGGAGGGGAGGGCTTGTTAAACTGGAACGTCTCAAACCCCATCCCTGCTGAAGCCAATCCGCCTGGTCTAGGGTAGACTTAGCATCTGTACTAAACATTGGTCTCTCACCGTGCCCCATATCTCACCACTAGCTGAGACTTTAAAATCCCCAAACCAGTGGCTCTCAGACCTGGCAGTACATTCGAGTCACCTGGGAGCTTTAAAAGCCAATCATAAAATTAGAATATCTTAGGGTGGAGGGCTGGGCAACATTTTTAGCTCTCAGTGAAATTATAATGCATAACGAGGGTTGAGAATCATTGGCTTAAACTCCCTCCCAATTTCCACACTTATGTAAATGAAATGAAAATCATCTCAAATTAGGAAGCAGATCTAAAGAAGTACTAAATGATTCTGATTTTTGGAACGAAAACCACTTCGATTTTTTGTTGTTGCTGCTGAAGTATTAAATACCCAAGTCTTAGATTTAGTGCCCTTCCTGCTTTACAGGAGCCCCAAGAATGTCTGTAGTCTGCCCTGGTCCTGCCCCCTTCCTCTCCCCTTCCCACCCTAGGCTGTTACCTGCACAGCGGTGGAGGGGCCTGCAGAGGCCCCAGGCTTGGGTGCGCAGCGATCAGCATGGCCGTGACAGAAGCAGCTCCCCTGCAGACGGAGCTGGGACACAGCATAGTAGGCGCTGGGAGGGTGGTAGCCCCTTTGGGGCACAGGGGCCAGCCTGGTGAAATTGACTCTCAAGTTTGTGATCTCCCCCACCTCTGAGAGGGCCAAACAGCAAGGAGGGAAGAGTTGGAGAATGGAAAATAAAGAAAGGAAGTTAGAGGCACATAGAGTCTCCTTCATATGTGATACCGTGGGCCATCCTCTCCAGACCTCAACCATCCCATAGCATCCCACAGACAATATCCCTATGGGGCAAGCAGGGCAAGTATCAAATCCCCAACCACGTTGACAAAAACATGAAAGACCAGGAAATTTCCATGACCTGGGCTCCAACTCTGTTTCCTTTCCCACCCATAGTTCCATGGACAAGAGAAGTAACCACACTGACCTTGAATTTTTTGACTTTGAGTTGCTGGAATCCCAGACACTAAATCCATAAGGTTAAGTTGGACCTACAGAGGGAAGGGAAAGAGAAGCGCTGAAGAAGAGACAAATAGTGTGCCCCGAGTTCAGAAGAAACCTTTCTTTCCATTATATGCCTCACACTTGAAGTCCTTGTTACCTGGAACCTGAGATAGACCATGGCTATGAGGCTTGTCATCTGCTGTGGGGGAGAAAGATGATCACTGGGCCCTAAACGTGTGTGTGTGTGTACCCCACCCCCAACCCCTGCCAGTTGAAAATATAAGTATCCTAAGAATTTTCTGAGTTCCCTGGGTCAAAAAGTATGGTAAGATATATCATCTACATATAAGGGTTTAGGAGATACTAATTTTCTGATGACTCAGGATGAGTGAGAAATCTAAAACCCAAGGATGCGTGAATGTGGGTGACCACAGCACTCTGGACAATCCCAGTTTCAACTATGCTTTGATTTATTCAAAAAAAAAAAATCCACTCATCATCTACATATCCCAGGAAGAGTTTTCACATCAGCCCTCCACAAGTTAGGAAAAAGTTCTTATCTGGTGTGTGAAGAATGTAGTTAACATAGATTTGCGTAAGGGTATAACCAAGGAGGAACTGCTAAAACCAAAGGAAGAGTTGCATGGCCTGCATAGAGGGCCCCACTCTGAGCATCGGTCCACATGAGAGCAGCTCTGAGGGCTCACCTGTGTCTCAGCCAGGGAAAGGAGAAGAGAAACTACAGCCTCCTCTGCCAGGGGATGGGGAAACGCAGTTATGAAAGAATTTGACCCACGTTGGGAGGACTTAGGGAGAAACATTCTGAGTTTTTCTTCAGGCAGGTTCTTATTTCTAGCTCAGGGTTTAAGCTCAGGAGAATTCGGGCTCTGGGTTTACCAGAATTCCCTCCAAGGGCTAAGACTGGGTTAGATGGATAGATTAAACTGAAAATGTTTATTTTTGTGTTAAACCCTACCAAGGTGAAATGAAATTTGTGTAATTTGCTCACTTGCATCTAACTAGCATCCCAAAGTCCTCATATCAAAGTAGGGTCGATTTCATCTTCCCACTAGAGGGATGAGCCAATGAGTCACGGGGGAGGGGGCTGTGGAAGACGGCAGGGGTGAGTAATGCGGTGGCCCCAAGGTGTTGCTGAAATATCCTTCCTCAGCAAAGAGGATAAGCAGCAAATGTTTTGAGGGTGGCCACAGGGGTCATTACTGGTGGGAATTCAGGAAAGTCAGCAAGGGGAGCTGGCGAGGGTGTTTCCGTCCCTTCTCAGGAGTCCGTGTGGCTGTGTGAACAGTGGGACATCAGGGATTTCTCCCCAGGCCTACTTTTCAGGATTCCCTCTACCTACCTTCCCCCCATTTAGGCGTGCATTAGGCCTCTGAGGCAGGGACTGGCACCGAACATCCTGCCAGCTCTGAGGCCGACCCTGGCGGACCCGAGGGAAGGTGGAGGTGCAGTCGGCAGCCAGGTACTGGTACACTCGCCAGGTCTTACCGAAGTCTGAGGAGCGCTCAATCAGCATGCCGGCGGGCATGGGCCCCTGTGGAGACAGGGGCAGTGTGCAGAGGGGAGGCACTGGGGCTGTGCCCCGTGGAGACACAAGCAGAGAGACAGGCTCCTCCAGTGAACTCGGGAGAAAGGGGGCCCAGTGGGAGCAAGTGGGCTCGGAGCATCCGGGTCCAAACCTCCTGGCATACCACAGGCCACAGAAGTTTCTCCCAGGATCTGCCTTCCAGGAGTGATCCCTAGCTCAGCTCACCAGGCTTCCAGGATAGACATTTCTCTGCTCCTACACTTCGCACAGTTGACCATTTTTTATTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTGTCTCTCTCCTGGAACTCATGTCCAGCCTCCTCTGTCATGGCCCTCCAAACCACATTCCCCACTCACCAGAGAGCTCTTCCTGGGTGATTATCTGATCTGTGAGAGCTTCAATCAGTCTGCATTGATCTCATGATATAAACTGAGCACCTTAGCATG
|
CAGTCAGAGGCAGCGCTTGGCAGGTGCTCAGACACCCTTGGCAAACTGTGGGATCCAGAAGCTGGTGGGGCCCTCTGGAGATTTCTATTCCAACAATCTATGAATACAGTTGTTTGGTTAATGGAACTGTTGTGATGAACTGTCACTAGACTCATTAAGGTATAAAAATAGAATAGCTGTTGCGTGCTAATTGCCTTCCAAATTAAGCCCAACACCTTCAGCTTGGCATTCAAGGACCTGTATCATGTTAGCTGCATTCTCAGCTCCCATGTCCTGCTGACAGCATAGCAAGATGAACTTCTAGCTGCTCCCTCTGCAAGCCCTACTTTCTCCACCTTTTGGCCTTTAGCAATGGTTTTTCTTCTGCCTAGAATTCTCTTCTCTCTGTATTCATTCACAAAATCCTGCCAGCTAGGCTCCAGCTAGAACGGCACCTCTCTCATAAGGCCTCCCTGGTGCCTCTAATTCCATAGATCTCAACACTGCCTGTACCTCAGTGTCACCTGGGGAACATTTTTTAAAATGCCAAGGTCCAGACCCAATTCACTCTGAATCTCAGGGATGAGACCCAGGCAGTGGCACCTTTTAAAAGTGGTGATTCCACTGCATGGCCAGATTTGAGGACCACCAGGGCTGGGTGGCTCCCTCCCACCTCGTCATGTCATAGCATGTTGTATTCCCTCTGTGTCACTCAGCCTTGGGTTCTAGGAGTATGTCTCATGGGCCCTGACAGATGACACACTCCCTGAGCTGGCCTCCCTCTGTACACCTCTGCAGCCTGGGGCAGAATTTGGCCCAGAAGTGGAAAGAAGAATGCCAGCTGAGGCTTGTGCCACCTCTATTTCCCACTCAGGCCATCTTACATGATTTCCTCCTGTCCCCCTGTCACTAGGACAGCTGTCACGCTCCCATGTTGGGTCCCTCTGCTTCTTTGCTCAAGGTTCTCTCTTCTCTACCTGTGGTTCTCAAGCTTGGTTTCACAGCAAAACCCCTTGGGAGGGGAGGGCTTGTTAAACTGGAACGTCTCAAACCCCATCCCTGCTGAAGCCAATCCGCCTGGTCTAGGGTAGACTTAGCATCTGTACTAAACATTGGTCTCTCACCGTGCCCCATATCTCACCACTAGCTGAGACTTTAAAATCCCCAAACCAGTGGCTCTCAGACCTGGCAGTACATTCGAGTCACCTGGGAGCTTTAAAAGCCAATCATAAAATTAGAATATCTTAGGGTGGAGGGCTGGGCAACATTTTTAGCTCTCAGTGAAATTATAATGCATAACGAGGGTTGAGAATCATTGGCTTAAACTCCCTCCCAATTTCCACACTTATGTAAATGAAATGAAAATCATCTCAAATTAGGAAGCAGATCTAAAGAAGTACTAAATGATTCTGATTTTTGGAACGAAAACCACTTCGATTTTTTGTTGTTGCTGCTGAAGTATTAAATACCCAAGTCTTAGATTTAGTGCCCTTCCTGCTTTACAGGAGCCCCAAGAATGTCTGTAGTCTGCCCTGGTCCTGCCCCCTTCCTCTCCCCTTCCCACCCTAGGCTGTTACCTGCACAGCGGTGGAGGGGCCTGCAGAGGCCCCAGGCTTGGGTGCGCAGCGATCAGCATGGCCGTGACAGAAGCAGCTCCCCTGCAGACGGAGCTGGGACACAGCATAGTAGGCGCTGGGAGGGTGGTAGCCCCTTTGGGGCACAGGGGCCAGCCTGGTGAAATTGACTCTCAAGTTTGTGATCTCCCCCACCTCTGAGAGGGCCAAACAGCAAGGAGGGAAGAGTTGGAGAATGGAAAATAAAGAAAGGAAGTTAGAGGCACATAGAGTCTCCTTCATATGTGATACCGTGGGCCATCCTCTCCAGACCTCAACCATCCCATAGCATCCCACAGACAATATCCCTATGGGGCAAGCAGGGCAAGTATCAAATCCCCAACCACGTTGACAAAAACATGAAAGACCAGGAAATTTCCATGACCTGGGCTCCAACTCTGTTTCCTTTCCCACCCATAGTTCCATGGACAAGAGAAGTAACCACACTGACCTTGAATTTTTGACTTTGAGTTGCTGGAATCCCAGACACTAAATCCATAAGGTTAAGTTGGACCTACAGAGGGAAGGGAAAGAGAAGCGCTGAAGAAGAGACAAATAGTGTGCCCCGAGTTCAGAAGAAACCTTTCTTTCCATTATATGCCTCACACTTGAAGTCCTTGTTACCTGGAACCTGAGATAGACCATGGCTATGAGGCTTGTCATCTGCTGTGGGGGAGAAAGATGATCACTGGGCCCTAAACGTGTGTGTGTGTGTACCCCACCCCCAACCCCTGCCAGTTGAAAATATAAGTATCCTAAGAATTTTCTGAGTTCCCTGGGTCAAAAAGTATGGTAAGATATATCATCTACATATAAGGGTTTAGGAGATACTAATTTTCTGATGACTCAGGATGAGTGAGAAATCTAAAACCCAAGGATGCGTGAATGTGGGTGACCACAGCACTCTGGACAATCCCAGTTTCAACTATGCTTTGATTTATTCAAAAAAAAAAAATCCACTCATCATCTACATATCCCAGGAAGAGTTTTCACATCAGCCCTCCACAAGTTAGGAAAAAGTTCTTATCTGGTGTGTGAAGAATGTAGTTAACATAGATTTGCGTAAGGGTATAACCAAGGAGGAACTGCTAAAACCAAAGGAAGAGTTGCATGGCCTGCATAGAGGGCCCCACTCTGAGCATCGGTCCACATGAGAGCAGCTCTGAGGGCTCACCTGTGTCTCAGCCAGGGAAAGGAGAAGAGAAACTACAGCCTCCTCTGCCAGGGGATGGGGAAACGCAGTTATGAAAGAATTTGACCCACGTTGGGAGGACTTAGGGAGAAACATTCTGAGTTTTTCTTCAGGCAGGTTCTTATTTCTAGCTCAGGGTTTAAGCTCAGGAGAATTCGGGCTCTGGGTTTACCAGAATTCCCTCCAAGGGCTAAGACTGGGTTAGATGGATAGATTAAACTGAAAATGTTTATTTTTGTGTTAAACCCTACCAAGGTGAAATGAAATTTGTGTAATTTGCTCACTTGCATCTAACTAGCATCCCAAAGTCCTCATATCAAAGTAGGGTCGATTTCATCTTCCCACTAGAGGGATGAGCCAATGAGTCACGGGGGAGGGGGCTGTGGAAGACGGCAGGGGTGAGTAATGCGGTGGCCCCAAGGTGTTGCTGAAATATCCTTCCTCAGCAAAGAGGATAAGCAGCAAATGTTTTGAGGGTGGCCACAGGGGTCATTACTGGTGGGAATTCAGGAAAGTCAGCAAGGGGAGCTGGCGAGGGTGTTTCCGTCCCTTCTCAGGAGTCCGTGTGGCTGTGTGAACAGTGGGACATCAGGGATTTCTCCCCAGGCCTACTTTTCAGGATTCCCTCTACCTACCTTCCCCCCATTTAGGCGTGCATTAGGCCTCTGAGGCAGGGACTGGCACCGAACATCCTGCCAGCTCTGAGGCCGACCCTGGCGGACCCGAGGGAAGGTGGAGGTGCAGTCGGCAGCCAGGTACTGGTACACTCGCCAGGTCTTACCGAAGTCTGAGGAGCGCTCAATCAGCATGCCGGCGGGCATGGGCCCCTGTGGAGACAGGGGCAGTGTGCAGAGGGGAGGCACTGGGGCTGTGCCCCGTGGAGACACAAGCAGAGAGACAGGCTCCTCCAGTGAACTCGGGAGAAAGGGGGCCCAGTGGGAGCAAGTGGGCTCGGAGCATCCGGGTCCAAACCTCCTGGCATACCACAGGCCACAGAAGTTTCTCCCAGGATCTGCCTTCCAGGAGTGATCCCTAGCTCAGCTCACCAGGCTTCCAGGATAGACATTTCTCTGCTCCTACACTTCGCACAGTTGACCATTTTTTATTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTGTCTCTCTCCTGGAACTCATGTCCAGCCTCCTCTGTCATGGCCCTCCAAACCACATTCCCCACTCACCAGAGAGCTCTTCCTGGGTGATTATCTGATCTGTGAGAGCTTCAATCAGTCTGCATTGATCTCATGATATAAACTGAGCACCTTAGCATGN
|
pathogenic
| 21,299
|
Chromosome 1, position 209634510, gene LAMB3 (laminin subunit beta 3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz']
|
AAGTATTAAATACCCAAGTCTTAGATTTAGTGCCCTTCCTGCTTTACAGGAGCCCCAAGAATGTCTGTAGTCTGCCCTGGTCCTGCCCCCTTCCTCTCCCCTTCCCACCCTAGGCTGTTACCTGCACAGCGGTGGAGGGGCCTGCAGAGGCCCCAGGCTTGGGTGCGCAGCGATCAGCATGGCCGTGACAGAAGCAGCTCCCCTGCAGACGGAGCTGGGACACAGCATAGTAGGCGCTGGGAGGGTGGTAGCCCCTTTGGGGCACAGGGGCCAGCCTGGTGAAATTGACTCTCAAGTTTGTGATCTCCCCCACCTCTGAGAGGGCCAAACAGCAAGGAGGGAAGAGTTGGAGAATGGAAAATAAAGAAAGGAAGTTAGAGGCACATAGAGTCTCCTTCATATGTGATACCGTGGGCCATCCTCTCCAGACCTCAACCATCCCATAGCATCCCACAGACAATATCCCTATGGGGCAAGCAGGGCAAGTATCAAATCCCCAACCACGTTGACAAAAACATGAAAGACCAGGAAATTTCCATGACCTGGGCTCCAACTCTGTTTCCTTTCCCACCCATAGTTCCATGGACAAGAGAAGTAACCACACTGACCTTGAATTTTTTGACTTTGAGTTGCTGGAATCCCAGACACTAAATCCATAAGGTTAAGTTGGACCTACAGAGGGAAGGGAAAGAGAAGCGCTGAAGAAGAGACAAATAGTGTGCCCCGAGTTCAGAAGAAACCTTTCTTTCCATTATATGCCTCACACTTGAAGTCCTTGTTACCTGGAACCTGAGATAGACCATGGCTATGAGGCTTGTCATCTGCTGTGGGGGAGAAAGATGATCACTGGGCCCTAAACGTGTGTGTGTGTGTACCCCACCCCCAACCCCTGCCAGTTGAAAATATAAGTATCCTAAGAATTTTCTGAGTTCCCTGGGTCAAAAAGTATGGTAAGATATATCATCTACATATAAGGGTTTAGGAGATACTAATTTTCTGATGACTCAGGATGAGTGAGAAATCTAAAACCCAAGGATGCGTGAATGTGGGTGACCACAGCACTCTGGACAATCCCAGTTTCAACTATGCTTTGATTTATTCAAAAAAAAAAAATCCACTCATCATCTACATATCCCAGGAAGAGTTTTCACATCAGCCCTCCACAAGTTAGGAAAAAGTTCTTATCTGGTGTGTGAAGAATGTAGTTAACATAGATTTGCGTAAGGGTATAACCAAGGAGGAACTGCTAAAACCAAAGGAAGAGTTGCATGGCCTGCATAGAGGGCCCCACTCTGAGCATCGGTCCACATGAGAGCAGCTCTGAGGGCTCACCTGTGTCTCAGCCAGGGAAAGGAGAAGAGAAACTACAGCCTCCTCTGCCAGGGGATGGGGAAACGCAGTTATGAAAGAATTTGACCCACGTTGGGAGGACTTAGGGAGAAACATTCTGAGTTTTTCTTCAGGCAGGTTCTTATTTCTAGCTCAGGGTTTAAGCTCAGGAGAATTCGGGCTCTGGGTTTACCAGAATTCCCTCCAAGGGCTAAGACTGGGTTAGATGGATAGATTAAACTGAAAATGTTTATTTTTGTGTTAAACCCTACCAAGGTGAAATGAAATTTGTGTAATTTGCTCACTTGCATCTAACTAGCATCCCAAAGTCCTCATATCAAAGTAGGGTCGATTTCATCTTCCCACTAGAGGGATGAGCCAATGAGTCACGGGGGAGGGGGCTGTGGAAGACGGCAGGGGTGAGTAATGCGGTGGCCCCAAGGTGTTGCTGAAATATCCTTCCTCAGCAAAGAGGATAAGCAGCAAATGTTTTGAGGGTGGCCACAGGGGTCATTACTGGTGGGAATTCAGGAAAGTCAGCAAGGGGAGCTGGCGAGGGTGTTTCCGTCCCTTCTCAGGAGTCCGTGTGGCTGTGTGAACAGTGGGACATCAGGGATTTCTCCCCAGGCCTACTTTTCAGGATTCCCTCTACCTACCTTCCCCCCATTTAGGCGTGCATTAGGCCTCTGAGGCAGGGACTGGCACCGAACATCCTGCCAGCTCTGAGGCCGACCCTGGCGGACCCGAGGGAAGGTGGAGGTGCAGTCGGCAGCCAGGTACTGGTACACTCGCCAGGTCTTACCGAAGTCTGAGGAGCGCTCAATCAGCATGCCGGCGGGCATGGGCCCCTGTGGAGACAGGGGCAGTGTGCAGAGGGGAGGCACTGGGGCTGTGCCCCGTGGAGACACAAGCAGAGAGACAGGCTCCTCCAGTGAACTCGGGAGAAAGGGGGCCCAGTGGGAGCAAGTGGGCTCGGAGCATCCGGGTCCAAACCTCCTGGCATACCACAGGCCACAGAAGTTTCTCCCAGGATCTGCCTTCCAGGAGTGATCCCTAGCTCAGCTCACCAGGCTTCCAGGATAGACATTTCTCTGCTCCTACACTTCGCACAGTTGACCATTTTTTATTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTGTCTCTCTCCTGGAACTCATGTCCAGCCTCCTCTGTCATGGCCCTCCAAACCACATTCCCCACTCACCAGAGAGCTCTTCCTGGGTGATTATCTGATCTGTGAGAGCTTCAATCAGTCTGCATTGATCTCATGATATAAACTGAGCACCTTAGCATGACATATTGAGTCCCTGCTCCTTCCTACAAAATGATTTCATCCATTTTGGGTGGCTTTAAATGTGGTCTTTATGCTGACAGCTCCCAGCTTGAACAACTTCCTGGAACTGCAGGTCTATAATAAACTCAGCCTCCAAAGCAGATACTGAACCAGGCCCAGGCCTGTCTCTCCAGCTTCAGGGTCCCCTCCTGCCTGATCTCCCTAGTAAGCTTCATCTGATTTCCCCTTTCCCCACGTTCACTCTTACTCAGTCATATCTTCTGTTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAAACAGAGCCTCACTCCGTCACTCAGGCCAGAGTGCAGTGGTACGATCTTGGCTCACTGCAACCTCCGCCTCCTAGGTTCCAGCGATTCTCATGTCTCAGCCTCCTGAGTAGCTGGAATTACAGGCGCACACCACCATGCCCTGCTAATTTTTGTATTTTTAGTAGAAATGGGTTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAACGTGCTGAGATTGCAGGTGTGAGCCACTGTGCCCAGCTAATCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCATCTTCTTAATGATTTTAAAACATAAAATGGGCCTTGTCAGTCCTCTGCTAAAAATCCTCCAATACTATTCTGGAACGAAATCTGAACTTCTGACCATGAGTGAAGAGGCCCCAGGCTCCCTGGGCCCTGCCTCCTCTCAGGCCACCTCTTCTCTTCAAGCCCTAAACCAAGCTCATTCCCTCCTCAGAGCCTTTGTCCAGTCTTTCTTGGAATGCTCCTCCCGCTGGTGGGTTCCCTCTCATCTTTTGTTCTCAGCTGAAATGTCATTTCCTGGTACAGATCTTTTGATACCTGACTGAACTGCATTCTCCTGCTCACGTCTGGCCCACCCCACCCTGCCCCATTATTTTCTATTTCAGCATCTTGTTTCCTTCAGAAACGTCACCACGATTTCCAATTATTTACTTGTTGGTTTCTTGCTTTTTATTCTTTTCCTGTGAGACCAGGATTTCTCAACCGTTCTCACTGTTAAAGTATTGAGTTGGAGAAATCTTAGTCCTAGAAGCTGTCCTGTGCACTGTAGCCTGGTGAACAGCGTCCCTGACTTCTACCCACCAGTTATCATTACATACCCATAGTTATGACAACCAAAAATGTCTCCAGAAATTGTCAGATATCCCCTGGGGGAGAGGAGAGGGCAAAACAGTGCCCCTGGTTGAGACTCAGTAAACCAGGCTGTAGCCCCTATTGTCTGTGGTTCACAGGTGGACCCCCAACACCTAGCACATGGGTGTTTAGCACATATTTGTTGAACAAATGGTGAATCTTCAGTCTGCTCCCCTCCCCCTGTGTATACCTGGAAAC
|
AAGTATTAAATACCCAAGTCTTAGATTTAGTGCCCTTCCTGCTTTACAGGAGCCCCAAGAATGTCTGTAGTCTGCCCTGGTCCTGCCCCCTTCCTCTCCCCTTCCCACCCTAGGCTGTTACCTGCACAGCGGTGGAGGGGCCTGCAGAGGCCCCAGGCTTGGGTGCGCAGCGATCAGCATGGCCGTGACAGAAGCAGCTCCCCTGCAGACGGAGCTGGGACACAGCATAGTAGGCGCTGGGAGGGTGGTAGCCCCTTTGGGGCACAGGGGCCAGCCTGGTGAAATTGACTCTCAAGTTTGTGATCTCCCCCACCTCTGAGAGGGCCAAACAGCAAGGAGGGAAGAGTTGGAGAATGGAAAATAAAGAAAGGAAGTTAGAGGCACATAGAGTCTCCTTCATATGTGATACCGTGGGCCATCCTCTCCAGACCTCAACCATCCCATAGCATCCCACAGACAATATCCCTATGGGGCAAGCAGGGCAAGTATCAAATCCCCAACCACGTTGACAAAAACATGAAAGACCAGGAAATTTCCATGACCTGGGCTCCAACTCTGTTTCCTTTCCCACCCATAGTTCCATGGACAAGAGAAGTAACCACACTGACCTTGAATTTTTTGACTTTGAGTTGCTGGAATCCCAGACACTAAATCCATAAGGTTAAGTTGGACCTACAGAGGGAAGGGAAAGAGAAGCGCTGAAGAAGAGACAAATAGTGTGCCCCGAGTTCAGAAGAAACCTTTCTTTCCATTATATGCCTCACACTTGAAGTCCTTGTTACCTGGAACCTGAGATAGACCATGGCTATGAGGCTTGTCATCTGCTGTGGGGGAGAAAGATGATCACTGGGCCCTAAACGTGTGTGTGTGTGTACCCCACCCCCAACCCCTGCCAGTTGAAAATATAAGTATCCTAAGAATTTTCTGAGTTCCCTGGGTCAAAAAGTATGGTAAGATATATCATCTACATATAAGGGTTTAGGAGATACTAATTTTCTGATGACTCAGGATGAGTGAGAAATCTAAAACCCAAGGATGCGTGAATGTGGGTGACCACAGCACTCTGGACAATCCCAGTTTCAACTATGCTTTGATTTATTCAAAAAAAAAAAATCCACTCATCATCTACATATCCCAGGAAGAGTTTTCACATCAGCCCTCCACAAGTTAGGAAAAAGTTCTTATCTGGTGTGTGAAGAATGTAGTTAACATAGATTTGCGTAAGGGTATAACCAAGGAGGAACTGCTAAAACCAAAGGAAGAGTTGCATGGCCTGCATAGAGGGCCCCACTCTGAGCATCGGTCCACATGAGAGCAGCTCTGAGGGCTCACCTGTGTCTCAGCCAGGGAAAGGAGAAGAGAAACTACAGCCTCCTCTGCCAGGGGATGGGGAAACGCAGTTATGAAAGAATTTGACCCACGTTGGGAGGACTTAGGGAGAAACATTCTGAGTTTTTCTTCAGGCAGGTTCTTATTTCTAGCTCAGGGTTTAAGCTCAGGAGAATTCGGGCTCTGGGTTTACCAGAATTCCCTCCAAGGGCTAAGACTGGGTTAGATGGATAGATTAAACTGAAAATGTTTATTTTTGTGTTAAACCCTACCAAGGTGAAATGAAATTTGTGTAATTTGCTCACTTGCATCTAACTAGCATCCCAAAGTCCTCATATCAAAGTAGGGTCGATTTCATCTTCCCACTAGAGGGATGAGCCAATGAGTCACGGGGGAGGGGGCTGTGGAAGACGGCAGGGGTGAGTAATGCGGTGGCCCCAAGGTGTTGCTGAAATATCCTTCCTCAGCAAAGAGGATAAGCAGCAAATGTTTTGAGGGTGGCCACAGGGGTCATTACTGGTGGGAATTCAGGAAAGTCAGCAAGGGGAGCTGGCGAGGGTGTTTCCGTCCCTTCTCAGGAGTCCGTGTGGCTGTGTGAACAGTGGGACATCAGGGATTTCTCCCCAGGCCTACTTTTCAGGATTCCCTCTACCTACCTTCCCCCCATTTAGGCGTGCATTAGGCCTCTGAGGCAGGGACTGGCACCGAACATCCTGCCAGCTGAGGCCGACCCTGGCGGACCCGAGGGAAGGTGGAGGTGCAGTCGGCAGCCAGGTACTGGTACACTCGCCAGGTCTTACCGAAGTCTGAGGAGCGCTCAATCAGCATGCCGGCGGGCATGGGCCCCTGTGGAGACAGGGGCAGTGTGCAGAGGGGAGGCACTGGGGCTGTGCCCCGTGGAGACACAAGCAGAGAGACAGGCTCCTCCAGTGAACTCGGGAGAAAGGGGGCCCAGTGGGAGCAAGTGGGCTCGGAGCATCCGGGTCCAAACCTCCTGGCATACCACAGGCCACAGAAGTTTCTCCCAGGATCTGCCTTCCAGGAGTGATCCCTAGCTCAGCTCACCAGGCTTCCAGGATAGACATTTCTCTGCTCCTACACTTCGCACAGTTGACCATTTTTTATTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTGTCTCTCTCCTGGAACTCATGTCCAGCCTCCTCTGTCATGGCCCTCCAAACCACATTCCCCACTCACCAGAGAGCTCTTCCTGGGTGATTATCTGATCTGTGAGAGCTTCAATCAGTCTGCATTGATCTCATGATATAAACTGAGCACCTTAGCATGACATATTGAGTCCCTGCTCCTTCCTACAAAATGATTTCATCCATTTTGGGTGGCTTTAAATGTGGTCTTTATGCTGACAGCTCCCAGCTTGAACAACTTCCTGGAACTGCAGGTCTATAATAAACTCAGCCTCCAAAGCAGATACTGAACCAGGCCCAGGCCTGTCTCTCCAGCTTCAGGGTCCCCTCCTGCCTGATCTCCCTAGTAAGCTTCATCTGATTTCCCCTTTCCCCACGTTCACTCTTACTCAGTCATATCTTCTGTTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAAACAGAGCCTCACTCCGTCACTCAGGCCAGAGTGCAGTGGTACGATCTTGGCTCACTGCAACCTCCGCCTCCTAGGTTCCAGCGATTCTCATGTCTCAGCCTCCTGAGTAGCTGGAATTACAGGCGCACACCACCATGCCCTGCTAATTTTTGTATTTTTAGTAGAAATGGGTTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAACGTGCTGAGATTGCAGGTGTGAGCCACTGTGCCCAGCTAATCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCATCTTCTTAATGATTTTAAAACATAAAATGGGCCTTGTCAGTCCTCTGCTAAAAATCCTCCAATACTATTCTGGAACGAAATCTGAACTTCTGACCATGAGTGAAGAGGCCCCAGGCTCCCTGGGCCCTGCCTCCTCTCAGGCCACCTCTTCTCTTCAAGCCCTAAACCAAGCTCATTCCCTCCTCAGAGCCTTTGTCCAGTCTTTCTTGGAATGCTCCTCCCGCTGGTGGGTTCCCTCTCATCTTTTGTTCTCAGCTGAAATGTCATTTCCTGGTACAGATCTTTTGATACCTGACTGAACTGCATTCTCCTGCTCACGTCTGGCCCACCCCACCCTGCCCCATTATTTTCTATTTCAGCATCTTGTTTCCTTCAGAAACGTCACCACGATTTCCAATTATTTACTTGTTGGTTTCTTGCTTTTTATTCTTTTCCTGTGAGACCAGGATTTCTCAACCGTTCTCACTGTTAAAGTATTGAGTTGGAGAAATCTTAGTCCTAGAAGCTGTCCTGTGCACTGTAGCCTGGTGAACAGCGTCCCTGACTTCTACCCACCAGTTATCATTACATACCCATAGTTATGACAACCAAAAATGTCTCCAGAAATTGTCAGATATCCCCTGGGGGAGAGGAGAGGGCAAAACAGTGCCCCTGGTTGAGACTCAGTAAACCAGGCTGTAGCCCCTATTGTCTGTGGTTCACAGGTGGACCCCCAACACCTAGCACATGGGTGTTTAGCACATATTTGTTGAACAAATGGTGAATCTTCAGTCTGCTCCCCTCCCCCTGTGTATACCTGGAAACNN
|
pathogenic
| 21,304
|
Regarding the variant at chromosome 1 and position 209634547, affecting gene LAMB3 (laminin subunit beta 3): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz']
|
CCTGCTTTACAGGAGCCCCAAGAATGTCTGTAGTCTGCCCTGGTCCTGCCCCCTTCCTCTCCCCTTCCCACCCTAGGCTGTTACCTGCACAGCGGTGGAGGGGCCTGCAGAGGCCCCAGGCTTGGGTGCGCAGCGATCAGCATGGCCGTGACAGAAGCAGCTCCCCTGCAGACGGAGCTGGGACACAGCATAGTAGGCGCTGGGAGGGTGGTAGCCCCTTTGGGGCACAGGGGCCAGCCTGGTGAAATTGACTCTCAAGTTTGTGATCTCCCCCACCTCTGAGAGGGCCAAACAGCAAGGAGGGAAGAGTTGGAGAATGGAAAATAAAGAAAGGAAGTTAGAGGCACATAGAGTCTCCTTCATATGTGATACCGTGGGCCATCCTCTCCAGACCTCAACCATCCCATAGCATCCCACAGACAATATCCCTATGGGGCAAGCAGGGCAAGTATCAAATCCCCAACCACGTTGACAAAAACATGAAAGACCAGGAAATTTCCATGACCTGGGCTCCAACTCTGTTTCCTTTCCCACCCATAGTTCCATGGACAAGAGAAGTAACCACACTGACCTTGAATTTTTTGACTTTGAGTTGCTGGAATCCCAGACACTAAATCCATAAGGTTAAGTTGGACCTACAGAGGGAAGGGAAAGAGAAGCGCTGAAGAAGAGACAAATAGTGTGCCCCGAGTTCAGAAGAAACCTTTCTTTCCATTATATGCCTCACACTTGAAGTCCTTGTTACCTGGAACCTGAGATAGACCATGGCTATGAGGCTTGTCATCTGCTGTGGGGGAGAAAGATGATCACTGGGCCCTAAACGTGTGTGTGTGTGTACCCCACCCCCAACCCCTGCCAGTTGAAAATATAAGTATCCTAAGAATTTTCTGAGTTCCCTGGGTCAAAAAGTATGGTAAGATATATCATCTACATATAAGGGTTTAGGAGATACTAATTTTCTGATGACTCAGGATGAGTGAGAAATCTAAAACCCAAGGATGCGTGAATGTGGGTGACCACAGCACTCTGGACAATCCCAGTTTCAACTATGCTTTGATTTATTCAAAAAAAAAAAATCCACTCATCATCTACATATCCCAGGAAGAGTTTTCACATCAGCCCTCCACAAGTTAGGAAAAAGTTCTTATCTGGTGTGTGAAGAATGTAGTTAACATAGATTTGCGTAAGGGTATAACCAAGGAGGAACTGCTAAAACCAAAGGAAGAGTTGCATGGCCTGCATAGAGGGCCCCACTCTGAGCATCGGTCCACATGAGAGCAGCTCTGAGGGCTCACCTGTGTCTCAGCCAGGGAAAGGAGAAGAGAAACTACAGCCTCCTCTGCCAGGGGATGGGGAAACGCAGTTATGAAAGAATTTGACCCACGTTGGGAGGACTTAGGGAGAAACATTCTGAGTTTTTCTTCAGGCAGGTTCTTATTTCTAGCTCAGGGTTTAAGCTCAGGAGAATTCGGGCTCTGGGTTTACCAGAATTCCCTCCAAGGGCTAAGACTGGGTTAGATGGATAGATTAAACTGAAAATGTTTATTTTTGTGTTAAACCCTACCAAGGTGAAATGAAATTTGTGTAATTTGCTCACTTGCATCTAACTAGCATCCCAAAGTCCTCATATCAAAGTAGGGTCGATTTCATCTTCCCACTAGAGGGATGAGCCAATGAGTCACGGGGGAGGGGGCTGTGGAAGACGGCAGGGGTGAGTAATGCGGTGGCCCCAAGGTGTTGCTGAAATATCCTTCCTCAGCAAAGAGGATAAGCAGCAAATGTTTTGAGGGTGGCCACAGGGGTCATTACTGGTGGGAATTCAGGAAAGTCAGCAAGGGGAGCTGGCGAGGGTGTTTCCGTCCCTTCTCAGGAGTCCGTGTGGCTGTGTGAACAGTGGGACATCAGGGATTTCTCCCCAGGCCTACTTTTCAGGATTCCCTCTACCTACCTTCCCCCCATTTAGGCGTGCATTAGGCCTCTGAGGCAGGGACTGGCACCGAACATCCTGCCAGCTCTGAGGCCGACCCTGGCGGACCCGAGGGAAGGTGGAGGTGCAGTCGGCAGCCAGGTACTGGTACACTCGCCAGGTCTTACCGAAGTCTGAGGAGCGCTCAATCAGCATGCCGGCGGGCATGGGCCCCTGTGGAGACAGGGGCAGTGTGCAGAGGGGAGGCACTGGGGCTGTGCCCCGTGGAGACACAAGCAGAGAGACAGGCTCCTCCAGTGAACTCGGGAGAAAGGGGGCCCAGTGGGAGCAAGTGGGCTCGGAGCATCCGGGTCCAAACCTCCTGGCATACCACAGGCCACAGAAGTTTCTCCCAGGATCTGCCTTCCAGGAGTGATCCCTAGCTCAGCTCACCAGGCTTCCAGGATAGACATTTCTCTGCTCCTACACTTCGCACAGTTGACCATTTTTTATTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTGTCTCTCTCCTGGAACTCATGTCCAGCCTCCTCTGTCATGGCCCTCCAAACCACATTCCCCACTCACCAGAGAGCTCTTCCTGGGTGATTATCTGATCTGTGAGAGCTTCAATCAGTCTGCATTGATCTCATGATATAAACTGAGCACCTTAGCATGACATATTGAGTCCCTGCTCCTTCCTACAAAATGATTTCATCCATTTTGGGTGGCTTTAAATGTGGTCTTTATGCTGACAGCTCCCAGCTTGAACAACTTCCTGGAACTGCAGGTCTATAATAAACTCAGCCTCCAAAGCAGATACTGAACCAGGCCCAGGCCTGTCTCTCCAGCTTCAGGGTCCCCTCCTGCCTGATCTCCCTAGTAAGCTTCATCTGATTTCCCCTTTCCCCACGTTCACTCTTACTCAGTCATATCTTCTGTTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAAACAGAGCCTCACTCCGTCACTCAGGCCAGAGTGCAGTGGTACGATCTTGGCTCACTGCAACCTCCGCCTCCTAGGTTCCAGCGATTCTCATGTCTCAGCCTCCTGAGTAGCTGGAATTACAGGCGCACACCACCATGCCCTGCTAATTTTTGTATTTTTAGTAGAAATGGGTTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAACGTGCTGAGATTGCAGGTGTGAGCCACTGTGCCCAGCTAATCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCATCTTCTTAATGATTTTAAAACATAAAATGGGCCTTGTCAGTCCTCTGCTAAAAATCCTCCAATACTATTCTGGAACGAAATCTGAACTTCTGACCATGAGTGAAGAGGCCCCAGGCTCCCTGGGCCCTGCCTCCTCTCAGGCCACCTCTTCTCTTCAAGCCCTAAACCAAGCTCATTCCCTCCTCAGAGCCTTTGTCCAGTCTTTCTTGGAATGCTCCTCCCGCTGGTGGGTTCCCTCTCATCTTTTGTTCTCAGCTGAAATGTCATTTCCTGGTACAGATCTTTTGATACCTGACTGAACTGCATTCTCCTGCTCACGTCTGGCCCACCCCACCCTGCCCCATTATTTTCTATTTCAGCATCTTGTTTCCTTCAGAAACGTCACCACGATTTCCAATTATTTACTTGTTGGTTTCTTGCTTTTTATTCTTTTCCTGTGAGACCAGGATTTCTCAACCGTTCTCACTGTTAAAGTATTGAGTTGGAGAAATCTTAGTCCTAGAAGCTGTCCTGTGCACTGTAGCCTGGTGAACAGCGTCCCTGACTTCTACCCACCAGTTATCATTACATACCCATAGTTATGACAACCAAAAATGTCTCCAGAAATTGTCAGATATCCCCTGGGGGAGAGGAGAGGGCAAAACAGTGCCCCTGGTTGAGACTCAGTAAACCAGGCTGTAGCCCCTATTGTCTGTGGTTCACAGGTGGACCCCCAACACCTAGCACATGGGTGTTTAGCACATATTTGTTGAACAAATGGTGAATCTTCAGTCTGCTCCCCTCCCCCTGTGTATACCTGGAAACTCATCTCGCAGCAGTCTTCAGCCCTCCACATCCCTGC
|
CCTGCTTTACAGGAGCCCCAAGAATGTCTGTAGTCTGCCCTGGTCCTGCCCCCTTCCTCTCCCCTTCCCACCCTAGGCTGTTACCTGCACAGCGGTGGAGGGGCCTGCAGAGGCCCCAGGCTTGGGTGCGCAGCGATCAGCATGGCCGTGACAGAAGCAGCTCCCCTGCAGACGGAGCTGGGACACAGCATAGTAGGCGCTGGGAGGGTGGTAGCCCCTTTGGGGCACAGGGGCCAGCCTGGTGAAATTGACTCTCAAGTTTGTGATCTCCCCCACCTCTGAGAGGGCCAAACAGCAAGGAGGGAAGAGTTGGAGAATGGAAAATAAAGAAAGGAAGTTAGAGGCACATAGAGTCTCCTTCATATGTGATACCGTGGGCCATCCTCTCCAGACCTCAACCATCCCATAGCATCCCACAGACAATATCCCTATGGGGCAAGCAGGGCAAGTATCAAATCCCCAACCACGTTGACAAAAACATGAAAGACCAGGAAATTTCCATGACCTGGGCTCCAACTCTGTTTCCTTTCCCACCCATAGTTCCATGGACAAGAGAAGTAACCACACTGACCTTGAATTTTTTGACTTTGAGTTGCTGGAATCCCAGACACTAAATCCATAAGGTTAAGTTGGACCTACAGAGGGAAGGGAAAGAGAAGCGCTGAAGAAGAGACAAATAGTGTGCCCCGAGTTCAGAAGAAACCTTTCTTTCCATTATATGCCTCACACTTGAAGTCCTTGTTACCTGGAACCTGAGATAGACCATGGCTATGAGGCTTGTCATCTGCTGTGGGGGAGAAAGATGATCACTGGGCCCTAAACGTGTGTGTGTGTGTACCCCACCCCCAACCCCTGCCAGTTGAAAATATAAGTATCCTAAGAATTTTCTGAGTTCCCTGGGTCAAAAAGTATGGTAAGATATATCATCTACATATAAGGGTTTAGGAGATACTAATTTTCTGATGACTCAGGATGAGTGAGAAATCTAAAACCCAAGGATGCGTGAATGTGGGTGACCACAGCACTCTGGACAATCCCAGTTTCAACTATGCTTTGATTTATTCAAAAAAAAAAAATCCACTCATCATCTACATATCCCAGGAAGAGTTTTCACATCAGCCCTCCACAAGTTAGGAAAAAGTTCTTATCTGGTGTGTGAAGAATGTAGTTAACATAGATTTGCGTAAGGGTATAACCAAGGAGGAACTGCTAAAACCAAAGGAAGAGTTGCATGGCCTGCATAGAGGGCCCCACTCTGAGCATCGGTCCACATGAGAGCAGCTCTGAGGGCTCACCTGTGTCTCAGCCAGGGAAAGGAGAAGAGAAACTACAGCCTCCTCTGCCAGGGGATGGGGAAACGCAGTTATGAAAGAATTTGACCCACGTTGGGAGGACTTAGGGAGAAACATTCTGAGTTTTTCTTCAGGCAGGTTCTTATTTCTAGCTCAGGGTTTAAGCTCAGGAGAATTCGGGCTCTGGGTTTACCAGAATTCCCTCCAAGGGCTAAGACTGGGTTAGATGGATAGATTAAACTGAAAATGTTTATTTTTGTGTTAAACCCTACCAAGGTGAAATGAAATTTGTGTAATTTGCTCACTTGCATCTAACTAGCATCCCAAAGTCCTCATATCAAAGTAGGGTCGATTTCATCTTCCCACTAGAGGGATGAGCCAATGAGTCACGGGGGAGGGGGCTGTGGAAGACGGCAGGGGTGAGTAATGCGGTGGCCCCAAGGTGTTGCTGAAATATCCTTCCTCAGCAAAGAGGATAAGCAGCAAATGTTTTGAGGGTGGCCACAGGGGTCATTACTGGTGGGAATTCAGGAAAGTCAGCAAGGGGAGCTGGCGAGGGTGTTTCCGTCCCTTCTCAGGAGTCCGTGTGGCTGTGTGAACAGTGGGACATCAGGGATTTCTCCCCAGGCCTACTTTTCAGGATTCCCTCTACCTACCTTCCCCCCATTTAGGCGTGCATTAGGCCTCTGAGGCAGGGACTGGCACCGAACATCCTGCCAGCTCTGAGGCCGACCCTGGCGGACCCGAGGGAAGGTGGAAGGTGCAGTCGGCAGCCAGGTACTGGTACACTCGCCAGGTCTTACCGAAGTCTGAGGAGCGCTCAATCAGCATGCCGGCGGGCATGGGCCCCTGTGGAGACAGGGGCAGTGTGCAGAGGGGAGGCACTGGGGCTGTGCCCCGTGGAGACACAAGCAGAGAGACAGGCTCCTCCAGTGAACTCGGGAGAAAGGGGGCCCAGTGGGAGCAAGTGGGCTCGGAGCATCCGGGTCCAAACCTCCTGGCATACCACAGGCCACAGAAGTTTCTCCCAGGATCTGCCTTCCAGGAGTGATCCCTAGCTCAGCTCACCAGGCTTCCAGGATAGACATTTCTCTGCTCCTACACTTCGCACAGTTGACCATTTTTTATTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTGTCTCTCTCCTGGAACTCATGTCCAGCCTCCTCTGTCATGGCCCTCCAAACCACATTCCCCACTCACCAGAGAGCTCTTCCTGGGTGATTATCTGATCTGTGAGAGCTTCAATCAGTCTGCATTGATCTCATGATATAAACTGAGCACCTTAGCATGACATATTGAGTCCCTGCTCCTTCCTACAAAATGATTTCATCCATTTTGGGTGGCTTTAAATGTGGTCTTTATGCTGACAGCTCCCAGCTTGAACAACTTCCTGGAACTGCAGGTCTATAATAAACTCAGCCTCCAAAGCAGATACTGAACCAGGCCCAGGCCTGTCTCTCCAGCTTCAGGGTCCCCTCCTGCCTGATCTCCCTAGTAAGCTTCATCTGATTTCCCCTTTCCCCACGTTCACTCTTACTCAGTCATATCTTCTGTTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAAACAGAGCCTCACTCCGTCACTCAGGCCAGAGTGCAGTGGTACGATCTTGGCTCACTGCAACCTCCGCCTCCTAGGTTCCAGCGATTCTCATGTCTCAGCCTCCTGAGTAGCTGGAATTACAGGCGCACACCACCATGCCCTGCTAATTTTTGTATTTTTAGTAGAAATGGGTTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAACGTGCTGAGATTGCAGGTGTGAGCCACTGTGCCCAGCTAATCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCATCTTCTTAATGATTTTAAAACATAAAATGGGCCTTGTCAGTCCTCTGCTAAAAATCCTCCAATACTATTCTGGAACGAAATCTGAACTTCTGACCATGAGTGAAGAGGCCCCAGGCTCCCTGGGCCCTGCCTCCTCTCAGGCCACCTCTTCTCTTCAAGCCCTAAACCAAGCTCATTCCCTCCTCAGAGCCTTTGTCCAGTCTTTCTTGGAATGCTCCTCCCGCTGGTGGGTTCCCTCTCATCTTTTGTTCTCAGCTGAAATGTCATTTCCTGGTACAGATCTTTTGATACCTGACTGAACTGCATTCTCCTGCTCACGTCTGGCCCACCCCACCCTGCCCCATTATTTTCTATTTCAGCATCTTGTTTCCTTCAGAAACGTCACCACGATTTCCAATTATTTACTTGTTGGTTTCTTGCTTTTTATTCTTTTCCTGTGAGACCAGGATTTCTCAACCGTTCTCACTGTTAAAGTATTGAGTTGGAGAAATCTTAGTCCTAGAAGCTGTCCTGTGCACTGTAGCCTGGTGAACAGCGTCCCTGACTTCTACCCACCAGTTATCATTACATACCCATAGTTATGACAACCAAAAATGTCTCCAGAAATTGTCAGATATCCCCTGGGGGAGAGGAGAGGGCAAAACAGTGCCCCTGGTTGAGACTCAGTAAACCAGGCTGTAGCCCCTATTGTCTGTGGTTCACAGGTGGACCCCCAACACCTAGCACATGGGTGTTTAGCACATATTTGTTGAACAAATGGTGAATCTTCAGTCTGCTCCCCTCCCCCTGTGTATACCTGGAAACTCATCTCGCAGCAGTCTTCAGCCCTCCACATCCCTG
|
pathogenic
| 21,305
|
Considering the variant on chromosome 1, location 209634574, involving gene LAMB3 (laminin subunit beta 3), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz']
|
CTGTAGTCTGCCCTGGTCCTGCCCCCTTCCTCTCCCCTTCCCACCCTAGGCTGTTACCTGCACAGCGGTGGAGGGGCCTGCAGAGGCCCCAGGCTTGGGTGCGCAGCGATCAGCATGGCCGTGACAGAAGCAGCTCCCCTGCAGACGGAGCTGGGACACAGCATAGTAGGCGCTGGGAGGGTGGTAGCCCCTTTGGGGCACAGGGGCCAGCCTGGTGAAATTGACTCTCAAGTTTGTGATCTCCCCCACCTCTGAGAGGGCCAAACAGCAAGGAGGGAAGAGTTGGAGAATGGAAAATAAAGAAAGGAAGTTAGAGGCACATAGAGTCTCCTTCATATGTGATACCGTGGGCCATCCTCTCCAGACCTCAACCATCCCATAGCATCCCACAGACAATATCCCTATGGGGCAAGCAGGGCAAGTATCAAATCCCCAACCACGTTGACAAAAACATGAAAGACCAGGAAATTTCCATGACCTGGGCTCCAACTCTGTTTCCTTTCCCACCCATAGTTCCATGGACAAGAGAAGTAACCACACTGACCTTGAATTTTTTGACTTTGAGTTGCTGGAATCCCAGACACTAAATCCATAAGGTTAAGTTGGACCTACAGAGGGAAGGGAAAGAGAAGCGCTGAAGAAGAGACAAATAGTGTGCCCCGAGTTCAGAAGAAACCTTTCTTTCCATTATATGCCTCACACTTGAAGTCCTTGTTACCTGGAACCTGAGATAGACCATGGCTATGAGGCTTGTCATCTGCTGTGGGGGAGAAAGATGATCACTGGGCCCTAAACGTGTGTGTGTGTGTACCCCACCCCCAACCCCTGCCAGTTGAAAATATAAGTATCCTAAGAATTTTCTGAGTTCCCTGGGTCAAAAAGTATGGTAAGATATATCATCTACATATAAGGGTTTAGGAGATACTAATTTTCTGATGACTCAGGATGAGTGAGAAATCTAAAACCCAAGGATGCGTGAATGTGGGTGACCACAGCACTCTGGACAATCCCAGTTTCAACTATGCTTTGATTTATTCAAAAAAAAAAAATCCACTCATCATCTACATATCCCAGGAAGAGTTTTCACATCAGCCCTCCACAAGTTAGGAAAAAGTTCTTATCTGGTGTGTGAAGAATGTAGTTAACATAGATTTGCGTAAGGGTATAACCAAGGAGGAACTGCTAAAACCAAAGGAAGAGTTGCATGGCCTGCATAGAGGGCCCCACTCTGAGCATCGGTCCACATGAGAGCAGCTCTGAGGGCTCACCTGTGTCTCAGCCAGGGAAAGGAGAAGAGAAACTACAGCCTCCTCTGCCAGGGGATGGGGAAACGCAGTTATGAAAGAATTTGACCCACGTTGGGAGGACTTAGGGAGAAACATTCTGAGTTTTTCTTCAGGCAGGTTCTTATTTCTAGCTCAGGGTTTAAGCTCAGGAGAATTCGGGCTCTGGGTTTACCAGAATTCCCTCCAAGGGCTAAGACTGGGTTAGATGGATAGATTAAACTGAAAATGTTTATTTTTGTGTTAAACCCTACCAAGGTGAAATGAAATTTGTGTAATTTGCTCACTTGCATCTAACTAGCATCCCAAAGTCCTCATATCAAAGTAGGGTCGATTTCATCTTCCCACTAGAGGGATGAGCCAATGAGTCACGGGGGAGGGGGCTGTGGAAGACGGCAGGGGTGAGTAATGCGGTGGCCCCAAGGTGTTGCTGAAATATCCTTCCTCAGCAAAGAGGATAAGCAGCAAATGTTTTGAGGGTGGCCACAGGGGTCATTACTGGTGGGAATTCAGGAAAGTCAGCAAGGGGAGCTGGCGAGGGTGTTTCCGTCCCTTCTCAGGAGTCCGTGTGGCTGTGTGAACAGTGGGACATCAGGGATTTCTCCCCAGGCCTACTTTTCAGGATTCCCTCTACCTACCTTCCCCCCATTTAGGCGTGCATTAGGCCTCTGAGGCAGGGACTGGCACCGAACATCCTGCCAGCTCTGAGGCCGACCCTGGCGGACCCGAGGGAAGGTGGAGGTGCAGTCGGCAGCCAGGTACTGGTACACTCGCCAGGTCTTACCGAAGTCTGAGGAGCGCTCAATCAGCATGCCGGCGGGCATGGGCCCCTGTGGAGACAGGGGCAGTGTGCAGAGGGGAGGCACTGGGGCTGTGCCCCGTGGAGACACAAGCAGAGAGACAGGCTCCTCCAGTGAACTCGGGAGAAAGGGGGCCCAGTGGGAGCAAGTGGGCTCGGAGCATCCGGGTCCAAACCTCCTGGCATACCACAGGCCACAGAAGTTTCTCCCAGGATCTGCCTTCCAGGAGTGATCCCTAGCTCAGCTCACCAGGCTTCCAGGATAGACATTTCTCTGCTCCTACACTTCGCACAGTTGACCATTTTTTATTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTGTCTCTCTCCTGGAACTCATGTCCAGCCTCCTCTGTCATGGCCCTCCAAACCACATTCCCCACTCACCAGAGAGCTCTTCCTGGGTGATTATCTGATCTGTGAGAGCTTCAATCAGTCTGCATTGATCTCATGATATAAACTGAGCACCTTAGCATGACATATTGAGTCCCTGCTCCTTCCTACAAAATGATTTCATCCATTTTGGGTGGCTTTAAATGTGGTCTTTATGCTGACAGCTCCCAGCTTGAACAACTTCCTGGAACTGCAGGTCTATAATAAACTCAGCCTCCAAAGCAGATACTGAACCAGGCCCAGGCCTGTCTCTCCAGCTTCAGGGTCCCCTCCTGCCTGATCTCCCTAGTAAGCTTCATCTGATTTCCCCTTTCCCCACGTTCACTCTTACTCAGTCATATCTTCTGTTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAAACAGAGCCTCACTCCGTCACTCAGGCCAGAGTGCAGTGGTACGATCTTGGCTCACTGCAACCTCCGCCTCCTAGGTTCCAGCGATTCTCATGTCTCAGCCTCCTGAGTAGCTGGAATTACAGGCGCACACCACCATGCCCTGCTAATTTTTGTATTTTTAGTAGAAATGGGTTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAACGTGCTGAGATTGCAGGTGTGAGCCACTGTGCCCAGCTAATCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCATCTTCTTAATGATTTTAAAACATAAAATGGGCCTTGTCAGTCCTCTGCTAAAAATCCTCCAATACTATTCTGGAACGAAATCTGAACTTCTGACCATGAGTGAAGAGGCCCCAGGCTCCCTGGGCCCTGCCTCCTCTCAGGCCACCTCTTCTCTTCAAGCCCTAAACCAAGCTCATTCCCTCCTCAGAGCCTTTGTCCAGTCTTTCTTGGAATGCTCCTCCCGCTGGTGGGTTCCCTCTCATCTTTTGTTCTCAGCTGAAATGTCATTTCCTGGTACAGATCTTTTGATACCTGACTGAACTGCATTCTCCTGCTCACGTCTGGCCCACCCCACCCTGCCCCATTATTTTCTATTTCAGCATCTTGTTTCCTTCAGAAACGTCACCACGATTTCCAATTATTTACTTGTTGGTTTCTTGCTTTTTATTCTTTTCCTGTGAGACCAGGATTTCTCAACCGTTCTCACTGTTAAAGTATTGAGTTGGAGAAATCTTAGTCCTAGAAGCTGTCCTGTGCACTGTAGCCTGGTGAACAGCGTCCCTGACTTCTACCCACCAGTTATCATTACATACCCATAGTTATGACAACCAAAAATGTCTCCAGAAATTGTCAGATATCCCCTGGGGGAGAGGAGAGGGCAAAACAGTGCCCCTGGTTGAGACTCAGTAAACCAGGCTGTAGCCCCTATTGTCTGTGGTTCACAGGTGGACCCCCAACACCTAGCACATGGGTGTTTAGCACATATTTGTTGAACAAATGGTGAATCTTCAGTCTGCTCCCCTCCCCCTGTGTATACCTGGAAACTCATCTCGCAGCAGTCTTCAGCCCTCCACATCCCTGCCTCTTGCCACCAAGCACATTTCACCCT
|
CTGTAGTCTGCCCTGGTCCTGCCCCCTTCCTCTCCCCTTCCCACCCTAGGCTGTTACCTGCACAGCGGTGGAGGGGCCTGCAGAGGCCCCAGGCTTGGGTGCGCAGCGATCAGCATGGCCGTGACAGAAGCAGCTCCCCTGCAGACGGAGCTGGGACACAGCATAGTAGGCGCTGGGAGGGTGGTAGCCCCTTTGGGGCACAGGGGCCAGCCTGGTGAAATTGACTCTCAAGTTTGTGATCTCCCCCACCTCTGAGAGGGCCAAACAGCAAGGAGGGAAGAGTTGGAGAATGGAAAATAAAGAAAGGAAGTTAGAGGCACATAGAGTCTCCTTCATATGTGATACCGTGGGCCATCCTCTCCAGACCTCAACCATCCCATAGCATCCCACAGACAATATCCCTATGGGGCAAGCAGGGCAAGTATCAAATCCCCAACCACGTTGACAAAAACATGAAAGACCAGGAAATTTCCATGACCTGGGCTCCAACTCTGTTTCCTTTCCCACCCATAGTTCCATGGACAAGAGAAGTAACCACACTGACCTTGAATTTTTTGACTTTGAGTTGCTGGAATCCCAGACACTAAATCCATAAGGTTAAGTTGGACCTACAGAGGGAAGGGAAAGAGAAGCGCTGAAGAAGAGACAAATAGTGTGCCCCGAGTTCAGAAGAAACCTTTCTTTCCATTATATGCCTCACACTTGAAGTCCTTGTTACCTGGAACCTGAGATAGACCATGGCTATGAGGCTTGTCATCTGCTGTGGGGGAGAAAGATGATCACTGGGCCCTAAACGTGTGTGTGTGTGTACCCCACCCCCAACCCCTGCCAGTTGAAAATATAAGTATCCTAAGAATTTTCTGAGTTCCCTGGGTCAAAAAGTATGGTAAGATATATCATCTACATATAAGGGTTTAGGAGATACTAATTTTCTGATGACTCAGGATGAGTGAGAAATCTAAAACCCAAGGATGCGTGAATGTGGGTGACCACAGCACTCTGGACAATCCCAGTTTCAACTATGCTTTGATTTATTCAAAAAAAAAAAATCCACTCATCATCTACATATCCCAGGAAGAGTTTTCACATCAGCCCTCCACAAGTTAGGAAAAAGTTCTTATCTGGTGTGTGAAGAATGTAGTTAACATAGATTTGCGTAAGGGTATAACCAAGGAGGAACTGCTAAAACCAAAGGAAGAGTTGCATGGCCTGCATAGAGGGCCCCACTCTGAGCATCGGTCCACATGAGAGCAGCTCTGAGGGCTCACCTGTGTCTCAGCCAGGGAAAGGAGAAGAGAAACTACAGCCTCCTCTGCCAGGGGATGGGGAAACGCAGTTATGAAAGAATTTGACCCACGTTGGGAGGACTTAGGGAGAAACATTCTGAGTTTTTCTTCAGGCAGGTTCTTATTTCTAGCTCAGGGTTTAAGCTCAGGAGAATTCGGGCTCTGGGTTTACCAGAATTCCCTCCAAGGGCTAAGACTGGGTTAGATGGATAGATTAAACTGAAAATGTTTATTTTTGTGTTAAACCCTACCAAGGTGAAATGAAATTTGTGTAATTTGCTCACTTGCATCTAACTAGCATCCCAAAGTCCTCATATCAAAGTAGGGTCGATTTCATCTTCCCACTAGAGGGATGAGCCAATGAGTCACGGGGGAGGGGGCTGTGGAAGACGGCAGGGGTGAGTAATGCGGTGGCCCCAAGGTGTTGCTGAAATATCCTTCCTCAGCAAAGAGGATAAGCAGCAAATGTTTTGAGGGTGGCCACAGGGGTCATTACTGGTGGGAATTCAGGAAAGTCAGCAAGGGGAGCTGGCGAGGGTGTTTCCGTCCCTTCTCAGGAGTCCGTGTGGCTGTGTGAACAGTGGGACATCAGGGATTTCTCCCCAGGCCTACTTTTCAGGATTCCCTCTACCTACCTTCCCCCCATTTAGGCGTGCATTAGGCCTCTGAGGCAGGGACTGGCACCGAACATCCTGCCAGCTCTGAGGCCGACCCTGGCGGACCCGAGGGAAGGTGGAGGTGCAGTCGGCAGCCAGGTACTGGTACTCGCCAGGTCTTACCGAAGTCTGAGGAGCGCTCAATCAGCATGCCGGCGGGCATGGGCCCCTGTGGAGACAGGGGCAGTGTGCAGAGGGGAGGCACTGGGGCTGTGCCCCGTGGAGACACAAGCAGAGAGACAGGCTCCTCCAGTGAACTCGGGAGAAAGGGGGCCCAGTGGGAGCAAGTGGGCTCGGAGCATCCGGGTCCAAACCTCCTGGCATACCACAGGCCACAGAAGTTTCTCCCAGGATCTGCCTTCCAGGAGTGATCCCTAGCTCAGCTCACCAGGCTTCCAGGATAGACATTTCTCTGCTCCTACACTTCGCACAGTTGACCATTTTTTATTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTGTCTCTCTCCTGGAACTCATGTCCAGCCTCCTCTGTCATGGCCCTCCAAACCACATTCCCCACTCACCAGAGAGCTCTTCCTGGGTGATTATCTGATCTGTGAGAGCTTCAATCAGTCTGCATTGATCTCATGATATAAACTGAGCACCTTAGCATGACATATTGAGTCCCTGCTCCTTCCTACAAAATGATTTCATCCATTTTGGGTGGCTTTAAATGTGGTCTTTATGCTGACAGCTCCCAGCTTGAACAACTTCCTGGAACTGCAGGTCTATAATAAACTCAGCCTCCAAAGCAGATACTGAACCAGGCCCAGGCCTGTCTCTCCAGCTTCAGGGTCCCCTCCTGCCTGATCTCCCTAGTAAGCTTCATCTGATTTCCCCTTTCCCCACGTTCACTCTTACTCAGTCATATCTTCTGTTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAAACAGAGCCTCACTCCGTCACTCAGGCCAGAGTGCAGTGGTACGATCTTGGCTCACTGCAACCTCCGCCTCCTAGGTTCCAGCGATTCTCATGTCTCAGCCTCCTGAGTAGCTGGAATTACAGGCGCACACCACCATGCCCTGCTAATTTTTGTATTTTTAGTAGAAATGGGTTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAACGTGCTGAGATTGCAGGTGTGAGCCACTGTGCCCAGCTAATCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCATCTTCTTAATGATTTTAAAACATAAAATGGGCCTTGTCAGTCCTCTGCTAAAAATCCTCCAATACTATTCTGGAACGAAATCTGAACTTCTGACCATGAGTGAAGAGGCCCCAGGCTCCCTGGGCCCTGCCTCCTCTCAGGCCACCTCTTCTCTTCAAGCCCTAAACCAAGCTCATTCCCTCCTCAGAGCCTTTGTCCAGTCTTTCTTGGAATGCTCCTCCCGCTGGTGGGTTCCCTCTCATCTTTTGTTCTCAGCTGAAATGTCATTTCCTGGTACAGATCTTTTGATACCTGACTGAACTGCATTCTCCTGCTCACGTCTGGCCCACCCCACCCTGCCCCATTATTTTCTATTTCAGCATCTTGTTTCCTTCAGAAACGTCACCACGATTTCCAATTATTTACTTGTTGGTTTCTTGCTTTTTATTCTTTTCCTGTGAGACCAGGATTTCTCAACCGTTCTCACTGTTAAAGTATTGAGTTGGAGAAATCTTAGTCCTAGAAGCTGTCCTGTGCACTGTAGCCTGGTGAACAGCGTCCCTGACTTCTACCCACCAGTTATCATTACATACCCATAGTTATGACAACCAAAAATGTCTCCAGAAATTGTCAGATATCCCCTGGGGGAGAGGAGAGGGCAAAACAGTGCCCCTGGTTGAGACTCAGTAAACCAGGCTGTAGCCCCTATTGTCTGTGGTTCACAGGTGGACCCCCAACACCTAGCACATGGGTGTTTAGCACATATTTGTTGAACAAATGGTGAATCTTCAGTCTGCTCCCCTCCCCCTGTGTATACCTGGAAACTCATCTCGCAGCAGTCTTCAGCCCTCCACATCCCTGCCTCTTGCCACCAAGCACATTTCACCCTNN
|
pathogenic
| 21,306
|
Benign or pathogenic: chromosome 1, position 209637971, gene LAMB3 (laminin subunit beta 3) variant? Disease(s) if pathogenic?
|
pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz']
|
AGCTCATTCCCTCCTCAGAGCCTTTGTCCAGTCTTTCTTGGAATGCTCCTCCCGCTGGTGGGTTCCCTCTCATCTTTTGTTCTCAGCTGAAATGTCATTTCCTGGTACAGATCTTTTGATACCTGACTGAACTGCATTCTCCTGCTCACGTCTGGCCCACCCCACCCTGCCCCATTATTTTCTATTTCAGCATCTTGTTTCCTTCAGAAACGTCACCACGATTTCCAATTATTTACTTGTTGGTTTCTTGCTTTTTATTCTTTTCCTGTGAGACCAGGATTTCTCAACCGTTCTCACTGTTAAAGTATTGAGTTGGAGAAATCTTAGTCCTAGAAGCTGTCCTGTGCACTGTAGCCTGGTGAACAGCGTCCCTGACTTCTACCCACCAGTTATCATTACATACCCATAGTTATGACAACCAAAAATGTCTCCAGAAATTGTCAGATATCCCCTGGGGGAGAGGAGAGGGCAAAACAGTGCCCCTGGTTGAGACTCAGTAAACCAGGCTGTAGCCCCTATTGTCTGTGGTTCACAGGTGGACCCCCAACACCTAGCACATGGGTGTTTAGCACATATTTGTTGAACAAATGGTGAATCTTCAGTCTGCTCCCCTCCCCCTGTGTATACCTGGAAACTCATCTCGCAGCAGTCTTCAGCCCTCCACATCCCTGCCTCTTGCCACCAAGCACATTTCACCCTCCAGGCCCTGTGTGCATTCCCTTGCCCCCAACCCCAGTCATATACCTCATCTTCTTGCCGCCTGCCTCCCGGCCTTTGTGCTTATGGTTCTGTTTTCTTGGAATAAACATTGCCCTTCCCCTGGCCATTACTGGTCTATGAAAGTTCATCTTCCCCTGGGTGCACTCCCTGACAAGCCCTCCCAAGACAGACCATGCAAGAGCCCCATTCTGGGCTCCCAGCACCTCTTCTTACCAATATCAGAGCACACATTGCACTCTCTCACTACTGACTTCCCCACGTATGGTGAAAGCAGCTTGAAGACTGTGATTTGGTTTTATTCATCTTTATATCCCTAACATCTGACACCAAGCCTAATGAGTAATCAGTGTTCAATAAGCGCTCACAAATAAATGACAAATAAATGAACAGGTGAGCGATGATAAAGTGAGGAGACTATTTAACACTGTCTATCAAATGAATATGCTGCCCTTCAAAGTTGCCACCTTTAGAGACTGGGCATTTATTCAAACAATGCTGGCATTTCTCAAAATATTTTTGACCTTTAGATGGGGCAAGGCTCTTAGAGCCAACTTCTTCAGTCATGTAAGAAATTAGGTCCTATTACTTTTTATTCCAAGCTCATTTTAACTCCTGAAAATTATATCTCCCTTCCTAATCCTTTAATCTTATTAACCAAATTTGATCATTGAATATCTGACTATTTCTGTAGAAAGAATAAAACCAAATCATCTCTGAAAAGAAAAAATTGACCTATGGCAATTAAATGAAAATGTTTCCTCCAAAAGAAGTATCTAGAAGGATGTTCTAAAGGCAGAATCTGAAAGTGCTTTGAGAAGTAATGGCGCTGAATGAGTAGATTGCCCACCAAGAGAGCTGCACCAAAGGAATATCCATCAGTTAGTTGGATAGGCAAGTTCTTGGCTGCTTGTTAAAGTCAATCTAATATGCAAAGTTATTAAAACAGAGTATACCAAGAATACACAACTGTACAACAAGCAACCGGGCCCAGTAGAATTGGTACTTGGCAGAGCTGAATTAATTAGATGGGTTGAGGGTGGAGAATGAGAGAGGAAGAGGATATGCAACCACTGCACGGCCAAGACAGGGAGCCAGGAGGTGCCACTTTTAGCCCAGGAGCGAGTCCTCTTCTGTCACCATGATATAGGCTCATGGTGAGTGTTGCCCCAACCCAGAGAGACAAGGACACTGTGCTCCTCCATGGCTCCACGCCCACATGGCCCAGGAGCCCCTCTCCTATCCACTGCCACCCCCAGGAGGCACACCTGGAACTCCATCATGACTTCTTGAAGCTGGAATCTCCTGTCCAGGTCCAGCTGCAGAGAGACAGGGTTCACATCTGGAAGGACAAAAAATAGAAACTGTCATCCAGAGACTGTCCACTTCCCCAGCCCTGAAGGAAGCCCTGGATTAGACTAGCTCTAGGAACTCAGAAACTCTCTAACCTTGATTTTCCAAACTCCCTCTTGGAGAGGAGTGGGGAGTGGTATGTTTCTGCTTATATTATCTATTCAAGATCCTATCTGTTTTTGGCTAAGTTTCCTTCCCACCATCACCTGATGTCTTCAATACTTTGGAGGGCTTCAACTTGTCTGTTCCACACAGACTTGTTCCCCAAACTTAATTCTGCAAGCCCACCCACTGAGACTGAGTGGAGGGAAATAAAGACATTCCTCTCTCCTCACACCCTTTCTTTCACCTCCAATAAATTCTTCTACCATAACATCCAACAGACCCCAAATATGAGGCAGAAAGATTCTTCTTATCAATCACCCATGTCACACCACCATAAGAAATGCCTGGGAAACCCAAAGGGTTATAGGGCACCTTCCATCCGTCTTATCCTGTGGAGGCTGTACAGTTTGAGTTCCCGTAGATGGCAAATGCTCACCATTCTGTGACTGCCACCAGCGCATGGGGCCGGAGGATGAAGCCACATTCTCTACTCGGTGACTGTAGTAGTTGTGAGGCTGCCTGGAGTCACACTTGCAGCATTTCATCTGCCACTGTGGGAGAGGGAGATAGCAGACACTCAGAGGTGGGGTCCTGATAGAATTCCCCCTTGCGTCCTGAGATCCCAGCATATCTCCTCTGTGGAAATCCTGCCCTTAGGAATCACTAATTTTATTAATACAATTTGAAGGGTTAATCTCTTAAAACACAGCTATTGATCACCTTTTAATTGGTCATCTTTTAATTCCTTGGTGCCCCTCCTAACACATAGCAAGTGAATGGTGAATAGATGTGTGAACGGAGAAGAGGTACGAGGTGGGAAAAAATACTTGAGTATATGATATTGCCTTGCAGAGAAACTTGAGAAAAGTGCCGAGAAAAAAAAAAGGGGGGCGGGGGGAGAAATTCATATTATTTGAGCATCTACGACATACTGGGCACAGGCTGGAAAGTTTTATAGTTTACCTCATTTAATCCTGGCAGCCTGGGAAATTCTGGGGTTTTAAGGATCAGAGAGAGAGGACTCCAAAAGAGGACAAGGAAATGTGGAGTTACAGTCCTAGCTCTGTCACCTCTACTTCCTAGGCTTAACTTTCTCCTCCATAAATTAAGTGGGGATTGAGCTAGAGCTTTTCATTTACCCAGCAAATGCTTATTTAGCATATACTATGTGCCAGACTCTACTCTGGGCTCTGGAGTTACAATAGGGAACAAAACAAAGGCCCTGCCCTCAGGGACCCAAAATTCTAGTGACATTCAAATGATCTCTAAGGCCTTCCAGCAGTGACATCTGGGGCGTGAGGATCTTTCTCAGGTTCGGTATTCCCTACCTACAGGAGAGCAACCGGCCTCACTGGGGAGGTCACCAATAACCTGGCCTACGCTTATCTCTTGGAATGAGACAGGAGCCAGAACTGAACCCCATAGGTTTCATGGCAGAGCAAGGATCACCAAGAAAAAGAGCATGGCCAGAGAGGCGATATATCCCTTGTTCTTTTAGCTTGTGCCTATGTGCATACATATACACATACACACACACACACACACGCACACGCGTGCACATGCGCACACGCACACACACACACACAGATAACACGACCTTTTCCCAGCTCCCCCATATAACATACATAAAATCTGCTTTCTCTGAGTAGCCATGATCCCAAACCCTGTGCGCAGCTTAAACCATACTGTCCAGAGGGCTCCAGATTTACCCACAAATAGATGCAAGTCTTGGACAAGAAACTCCTGGACCTGCAGGTCCTTCTGGGTAGGGAAAACTGTCCCTCCACACACCCTGTACCGCTGCTTTCCTCTAAGCCTCCACTCACCAGAACAAAGAACCGACCCAAAGAGTCTGAGTGGATATATGGGGCCTATGCCTTGAGTGATAGAACCTCCCTGCCCAACACCCATCTTCCCTCTC
|
AGCTCATTCCCTCCTCAGAGCCTTTGTCCAGTCTTTCTTGGAATGCTCCTCCCGCTGGTGGGTTCCCTCTCATCTTTTGTTCTCAGCTGAAATGTCATTTCCTGGTACAGATCTTTTGATACCTGACTGAACTGCATTCTCCTGCTCACGTCTGGCCCACCCCACCCTGCCCCATTATTTTCTATTTCAGCATCTTGTTTCCTTCAGAAACGTCACCACGATTTCCAATTATTTACTTGTTGGTTTCTTGCTTTTTATTCTTTTCCTGTGAGACCAGGATTTCTCAACCGTTCTCACTGTTAAAGTATTGAGTTGGAGAAATCTTAGTCCTAGAAGCTGTCCTGTGCACTGTAGCCTGGTGAACAGCGTCCCTGACTTCTACCCACCAGTTATCATTACATACCCATAGTTATGACAACCAAAAATGTCTCCAGAAATTGTCAGATATCCCCTGGGGGAGAGGAGAGGGCAAAACAGTGCCCCTGGTTGAGACTCAGTAAACCAGGCTGTAGCCCCTATTGTCTGTGGTTCACAGGTGGACCCCCAACACCTAGCACATGGGTGTTTAGCACATATTTGTTGAACAAATGGTGAATCTTCAGTCTGCTCCCCTCCCCCTGTGTATACCTGGAAACTCATCTCGCAGCAGTCTTCAGCCCTCCACATCCCTGCCTCTTGCCACCAAGCACATTTCACCCTCCAGGCCCTGTGTGCATTCCCTTGCCCCCAACCCCAGTCATATACCTCATCTTCTTGCCGCCTGCCTCCCGGCCTTTGTGCTTATGGTTCTGTTTTCTTGGAATAAACATTGCCCTTCCCCTGGCCATTACTGGTCTATGAAAGTTCATCTTCCCCTGGGTGCACTCCCTGACAAGCCCTCCCAAGACAGACCATGCAAGAGCCCCATTCTGGGCTCCCAGCACCTCTTCTTACCAATATCAGAGCACACATTGCACTCTCTCACTACTGACTTCCCCACGTATGGTGAAAGCAGCTTGAAGACTGTGATTTGGTTTTATTCATCTTTATATCCCTAACATCTGACACCAAGCCTAATGAGTAATCAGTGTTCAATAAGCGCTCACAAATAAATGACAAATAAATGAACAGGTGAGCGATGATAAAGTGAGGAGACTATTTAACACTGTCTATCAAATGAATATGCTGCCCTTCAAAGTTGCCACCTTTAGAGACTGGGCATTTATTCAAACAATGCTGGCATTTCTCAAAATATTTTTGACCTTTAGATGGGGCAAGGCTCTTAGAGCCAACTTCTTCAGTCATGTAAGAAATTAGGTCCTATTACTTTTTATTCCAAGCTCATTTTAACTCCTGAAAATTATATCTCCCTTCCTAATCCTTTAATCTTATTAACCAAATTTGATCATTGAATATCTGACTATTTCTGTAGAAAGAATAAAACCAAATCATCTCTGAAAAGAAAAAATTGACCTATGGCAATTAAATGAAAATGTTTCCTCCAAAAGAAGTATCTAGAAGGATGTTCTAAAGGCAGAATCTGAAAGTGCTTTGAGAAGTAATGGCGCTGAATGAGTAGATTGCCCACCAAGAGAGCTGCACCAAAGGAATATCCATCAGTTAGTTGGATAGGCAAGTTCTTGGCTGCTTGTTAAAGTCAATCTAATATGCAAAGTTATTAAAACAGAGTATACCAAGAATACACAACTGTACAACAAGCAACCGGGCCCAGTAGAATTGGTACTTGGCAGAGCTGAATTAATTAGATGGGTTGAGGGTGGAGAATGAGAGAGGAAGAGGATATGCAACCACTGCACGGCCAAGACAGGGAGCCAGGAGGTGCCACTTTTAGCCCAGGAGCGAGTCCTCTTCTGTCACCATGATATAGGCTCATGGTGAGTGTTGCCCCAACCCAGAGAGACAAGGACACTGTGCTCCTCCATGGCTCCACGCCCACATGGCCCAGGAGCCCCTCTCCTATCCACTGCCACCCCCAGGAGGCACACCTGGAACTCCATCATGACTTCTTGAAGCTGGAATCTCCTGTCCAGGTCCAGCTGCAGAGAGACAGGTTCACATCTGGAAGGACAAAAAATAGAAACTGTCATCCAGAGACTGTCCACTTCCCCAGCCCTGAAGGAAGCCCTGGATTAGACTAGCTCTAGGAACTCAGAAACTCTCTAACCTTGATTTTCCAAACTCCCTCTTGGAGAGGAGTGGGGAGTGGTATGTTTCTGCTTATATTATCTATTCAAGATCCTATCTGTTTTTGGCTAAGTTTCCTTCCCACCATCACCTGATGTCTTCAATACTTTGGAGGGCTTCAACTTGTCTGTTCCACACAGACTTGTTCCCCAAACTTAATTCTGCAAGCCCACCCACTGAGACTGAGTGGAGGGAAATAAAGACATTCCTCTCTCCTCACACCCTTTCTTTCACCTCCAATAAATTCTTCTACCATAACATCCAACAGACCCCAAATATGAGGCAGAAAGATTCTTCTTATCAATCACCCATGTCACACCACCATAAGAAATGCCTGGGAAACCCAAAGGGTTATAGGGCACCTTCCATCCGTCTTATCCTGTGGAGGCTGTACAGTTTGAGTTCCCGTAGATGGCAAATGCTCACCATTCTGTGACTGCCACCAGCGCATGGGGCCGGAGGATGAAGCCACATTCTCTACTCGGTGACTGTAGTAGTTGTGAGGCTGCCTGGAGTCACACTTGCAGCATTTCATCTGCCACTGTGGGAGAGGGAGATAGCAGACACTCAGAGGTGGGGTCCTGATAGAATTCCCCCTTGCGTCCTGAGATCCCAGCATATCTCCTCTGTGGAAATCCTGCCCTTAGGAATCACTAATTTTATTAATACAATTTGAAGGGTTAATCTCTTAAAACACAGCTATTGATCACCTTTTAATTGGTCATCTTTTAATTCCTTGGTGCCCCTCCTAACACATAGCAAGTGAATGGTGAATAGATGTGTGAACGGAGAAGAGGTACGAGGTGGGAAAAAATACTTGAGTATATGATATTGCCTTGCAGAGAAACTTGAGAAAAGTGCCGAGAAAAAAAAAAGGGGGGCGGGGGGAGAAATTCATATTATTTGAGCATCTACGACATACTGGGCACAGGCTGGAAAGTTTTATAGTTTACCTCATTTAATCCTGGCAGCCTGGGAAATTCTGGGGTTTTAAGGATCAGAGAGAGAGGACTCCAAAAGAGGACAAGGAAATGTGGAGTTACAGTCCTAGCTCTGTCACCTCTACTTCCTAGGCTTAACTTTCTCCTCCATAAATTAAGTGGGGATTGAGCTAGAGCTTTTCATTTACCCAGCAAATGCTTATTTAGCATATACTATGTGCCAGACTCTACTCTGGGCTCTGGAGTTACAATAGGGAACAAAACAAAGGCCCTGCCCTCAGGGACCCAAAATTCTAGTGACATTCAAATGATCTCTAAGGCCTTCCAGCAGTGACATCTGGGGCGTGAGGATCTTTCTCAGGTTCGGTATTCCCTACCTACAGGAGAGCAACCGGCCTCACTGGGGAGGTCACCAATAACCTGGCCTACGCTTATCTCTTGGAATGAGACAGGAGCCAGAACTGAACCCCATAGGTTTCATGGCAGAGCAAGGATCACCAAGAAAAAGAGCATGGCCAGAGAGGCGATATATCCCTTGTTCTTTTAGCTTGTGCCTATGTGCATACATATACACATACACACACACACACACACGCACACGCGTGCACATGCGCACACGCACACACACACACACAGATAACACGACCTTTTCCCAGCTCCCCCATATAACATACATAAAATCTGCTTTCTCTGAGTAGCCATGATCCCAAACCCTGTGCGCAGCTTAAACCATACTGTCCAGAGGGCTCCAGATTTACCCACAAATAGATGCAAGTCTTGGACAAGAAACTCCTGGACCTGCAGGTCCTTCTGGGTAGGGAAAACTGTCCCTCCACACACCCTGTACCGCTGCTTTCCTCTAAGCCTCCACTCACCAGAACAAAGAACCGACCCAAAGAGTCTGAGTGGATATATGGGGCCTATGCCTTGAGTGATAGAACCTCCCTGCCCAACACCCATCTTCCCTCTCN
|
pathogenic
| 21,314
|
Evaluate this variant at chromosome 1, position 209638605, gene LAMB3 (laminin subunit beta 3): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz']
|
CTCATCTCGCAGCAGTCTTCAGCCCTCCACATCCCTGCCTCTTGCCACCAAGCACATTTCACCCTCCAGGCCCTGTGTGCATTCCCTTGCCCCCAACCCCAGTCATATACCTCATCTTCTTGCCGCCTGCCTCCCGGCCTTTGTGCTTATGGTTCTGTTTTCTTGGAATAAACATTGCCCTTCCCCTGGCCATTACTGGTCTATGAAAGTTCATCTTCCCCTGGGTGCACTCCCTGACAAGCCCTCCCAAGACAGACCATGCAAGAGCCCCATTCTGGGCTCCCAGCACCTCTTCTTACCAATATCAGAGCACACATTGCACTCTCTCACTACTGACTTCCCCACGTATGGTGAAAGCAGCTTGAAGACTGTGATTTGGTTTTATTCATCTTTATATCCCTAACATCTGACACCAAGCCTAATGAGTAATCAGTGTTCAATAAGCGCTCACAAATAAATGACAAATAAATGAACAGGTGAGCGATGATAAAGTGAGGAGACTATTTAACACTGTCTATCAAATGAATATGCTGCCCTTCAAAGTTGCCACCTTTAGAGACTGGGCATTTATTCAAACAATGCTGGCATTTCTCAAAATATTTTTGACCTTTAGATGGGGCAAGGCTCTTAGAGCCAACTTCTTCAGTCATGTAAGAAATTAGGTCCTATTACTTTTTATTCCAAGCTCATTTTAACTCCTGAAAATTATATCTCCCTTCCTAATCCTTTAATCTTATTAACCAAATTTGATCATTGAATATCTGACTATTTCTGTAGAAAGAATAAAACCAAATCATCTCTGAAAAGAAAAAATTGACCTATGGCAATTAAATGAAAATGTTTCCTCCAAAAGAAGTATCTAGAAGGATGTTCTAAAGGCAGAATCTGAAAGTGCTTTGAGAAGTAATGGCGCTGAATGAGTAGATTGCCCACCAAGAGAGCTGCACCAAAGGAATATCCATCAGTTAGTTGGATAGGCAAGTTCTTGGCTGCTTGTTAAAGTCAATCTAATATGCAAAGTTATTAAAACAGAGTATACCAAGAATACACAACTGTACAACAAGCAACCGGGCCCAGTAGAATTGGTACTTGGCAGAGCTGAATTAATTAGATGGGTTGAGGGTGGAGAATGAGAGAGGAAGAGGATATGCAACCACTGCACGGCCAAGACAGGGAGCCAGGAGGTGCCACTTTTAGCCCAGGAGCGAGTCCTCTTCTGTCACCATGATATAGGCTCATGGTGAGTGTTGCCCCAACCCAGAGAGACAAGGACACTGTGCTCCTCCATGGCTCCACGCCCACATGGCCCAGGAGCCCCTCTCCTATCCACTGCCACCCCCAGGAGGCACACCTGGAACTCCATCATGACTTCTTGAAGCTGGAATCTCCTGTCCAGGTCCAGCTGCAGAGAGACAGGGTTCACATCTGGAAGGACAAAAAATAGAAACTGTCATCCAGAGACTGTCCACTTCCCCAGCCCTGAAGGAAGCCCTGGATTAGACTAGCTCTAGGAACTCAGAAACTCTCTAACCTTGATTTTCCAAACTCCCTCTTGGAGAGGAGTGGGGAGTGGTATGTTTCTGCTTATATTATCTATTCAAGATCCTATCTGTTTTTGGCTAAGTTTCCTTCCCACCATCACCTGATGTCTTCAATACTTTGGAGGGCTTCAACTTGTCTGTTCCACACAGACTTGTTCCCCAAACTTAATTCTGCAAGCCCACCCACTGAGACTGAGTGGAGGGAAATAAAGACATTCCTCTCTCCTCACACCCTTTCTTTCACCTCCAATAAATTCTTCTACCATAACATCCAACAGACCCCAAATATGAGGCAGAAAGATTCTTCTTATCAATCACCCATGTCACACCACCATAAGAAATGCCTGGGAAACCCAAAGGGTTATAGGGCACCTTCCATCCGTCTTATCCTGTGGAGGCTGTACAGTTTGAGTTCCCGTAGATGGCAAATGCTCACCATTCTGTGACTGCCACCAGCGCATGGGGCCGGAGGATGAAGCCACATTCTCTACTCGGTGACTGTAGTAGTTGTGAGGCTGCCTGGAGTCACACTTGCAGCATTTCATCTGCCACTGTGGGAGAGGGAGATAGCAGACACTCAGAGGTGGGGTCCTGATAGAATTCCCCCTTGCGTCCTGAGATCCCAGCATATCTCCTCTGTGGAAATCCTGCCCTTAGGAATCACTAATTTTATTAATACAATTTGAAGGGTTAATCTCTTAAAACACAGCTATTGATCACCTTTTAATTGGTCATCTTTTAATTCCTTGGTGCCCCTCCTAACACATAGCAAGTGAATGGTGAATAGATGTGTGAACGGAGAAGAGGTACGAGGTGGGAAAAAATACTTGAGTATATGATATTGCCTTGCAGAGAAACTTGAGAAAAGTGCCGAGAAAAAAAAAAGGGGGGCGGGGGGAGAAATTCATATTATTTGAGCATCTACGACATACTGGGCACAGGCTGGAAAGTTTTATAGTTTACCTCATTTAATCCTGGCAGCCTGGGAAATTCTGGGGTTTTAAGGATCAGAGAGAGAGGACTCCAAAAGAGGACAAGGAAATGTGGAGTTACAGTCCTAGCTCTGTCACCTCTACTTCCTAGGCTTAACTTTCTCCTCCATAAATTAAGTGGGGATTGAGCTAGAGCTTTTCATTTACCCAGCAAATGCTTATTTAGCATATACTATGTGCCAGACTCTACTCTGGGCTCTGGAGTTACAATAGGGAACAAAACAAAGGCCCTGCCCTCAGGGACCCAAAATTCTAGTGACATTCAAATGATCTCTAAGGCCTTCCAGCAGTGACATCTGGGGCGTGAGGATCTTTCTCAGGTTCGGTATTCCCTACCTACAGGAGAGCAACCGGCCTCACTGGGGAGGTCACCAATAACCTGGCCTACGCTTATCTCTTGGAATGAGACAGGAGCCAGAACTGAACCCCATAGGTTTCATGGCAGAGCAAGGATCACCAAGAAAAAGAGCATGGCCAGAGAGGCGATATATCCCTTGTTCTTTTAGCTTGTGCCTATGTGCATACATATACACATACACACACACACACACACGCACACGCGTGCACATGCGCACACGCACACACACACACACAGATAACACGACCTTTTCCCAGCTCCCCCATATAACATACATAAAATCTGCTTTCTCTGAGTAGCCATGATCCCAAACCCTGTGCGCAGCTTAAACCATACTGTCCAGAGGGCTCCAGATTTACCCACAAATAGATGCAAGTCTTGGACAAGAAACTCCTGGACCTGCAGGTCCTTCTGGGTAGGGAAAACTGTCCCTCCACACACCCTGTACCGCTGCTTTCCTCTAAGCCTCCACTCACCAGAACAAAGAACCGACCCAAAGAGTCTGAGTGGATATATGGGGCCTATGCCTTGAGTGATAGAACCTCCCTGCCCAACACCCATCTTCCCTCTCCAAAGCTGGCACAGCCTGCAACAGGAGAGAGCAAAGAGGGGAGCCAGGTGTCTTGGTTCCCTGGGCCTCTGCTTCCCACTCCACTTTCCAGGTCTCACCCAGTCTGCAAATGAAGAGAACTATCACCCTTCCTAGTGCTTGGAGGTGCCCTTGGCATGTCCAAAAATGCTTTATTAAACATTCATTCTTTGGGTGTTTAAGGCTCAAATAACAGCTGGCACATAAGCCCTTTATAAAGTAGTACCCATTGGTGGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGGGGCAAGAGAATCGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGACGAGATCGTGCCACTGCACTCCAGCCTAGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAGTAATAAAATAAAATAAAGTAGCACCCATTGCCCCACCTCCCACCACTCACTGTGCATTCCCTTGCCCTGTTATATTTTTTTCATAGTACATA
|
CTCATCTCGCAGCAGTCTTCAGCCCTCCACATCCCTGCCTCTTGCCACCAAGCACATTTCACCCTCCAGGCCCTGTGTGCATTCCCTTGCCCCCAACCCCAGTCATATACCTCATCTTCTTGCCGCCTGCCTCCCGGCCTTTGTGCTTATGGTTCTGTTTTCTTGGAATAAACATTGCCCTTCCCCTGGCCATTACTGGTCTATGAAAGTTCATCTTCCCCTGGGTGCACTCCCTGACAAGCCCTCCCAAGACAGACCATGCAAGAGCCCCATTCTGGGCTCCCAGCACCTCTTCTTACCAATATCAGAGCACACATTGCACTCTCTCACTACTGACTTCCCCACGTATGGTGAAAGCAGCTTGAAGACTGTGATTTGGTTTTATTCATCTTTATATCCCTAACATCTGACACCAAGCCTAATGAGTAATCAGTGTTCAATAAGCGCTCACAAATAAATGACAAATAAATGAACAGGTGAGCGATGATAAAGTGAGGAGACTATTTAACACTGTCTATCAAATGAATATGCTGCCCTTCAAAGTTGCCACCTTTAGAGACTGGGCATTTATTCAAACAATGCTGGCATTTCTCAAAATATTTTTGACCTTTAGATGGGGCAAGGCTCTTAGAGCCAACTTCTTCAGTCATGTAAGAAATTAGGTCCTATTACTTTTTATTCCAAGCTCATTTTAACTCCTGAAAATTATATCTCCCTTCCTAATCCTTTAATCTTATTAACCAAATTTGATCATTGAATATCTGACTATTTCTGTAGAAAGAATAAAACCAAATCATCTCTGAAAAGAAAAAATTGACCTATGGCAATTAAATGAAAATGTTTCCTCCAAAAGAAGTATCTAGAAGGATGTTCTAAAGGCAGAATCTGAAAGTGCTTTGAGAAGTAATGGCGCTGAATGAGTAGATTGCCCACCAAGAGAGCTGCACCAAAGGAATATCCATCAGTTAGTTGGATAGGCAAGTTCTTGGCTGCTTGTTAAAGTCAATCTAATATGCAAAGTTATTAAAACAGAGTATACCAAGAATACACAACTGTACAACAAGCAACCGGGCCCAGTAGAATTGGTACTTGGCAGAGCTGAATTAATTAGATGGGTTGAGGGTGGAGAATGAGAGAGGAAGAGGATATGCAACCACTGCACGGCCAAGACAGGGAGCCAGGAGGTGCCACTTTTAGCCCAGGAGCGAGTCCTCTTCTGTCACCATGATATAGGCTCATGGTGAGTGTTGCCCCAACCCAGAGAGACAAGGACACTGTGCTCCTCCATGGCTCCACGCCCACATGGCCCAGGAGCCCCTCTCCTATCCACTGCCACCCCCAGGAGGCACACCTGGAACTCCATCATGACTTCTTGAAGCTGGAATCTCCTGTCCAGGTCCAGCTGCAGAGAGACAGGGTTCACATCTGGAAGGACAAAAAATAGAAACTGTCATCCAGAGACTGTCCACTTCCCCAGCCCTGAAGGAAGCCCTGGATTAGACTAGCTCTAGGAACTCAGAAACTCTCTAACCTTGATTTTCCAAACTCCCTCTTGGAGAGGAGTGGGGAGTGGTATGTTTCTGCTTATATTATCTATTCAAGATCCTATCTGTTTTTGGCTAAGTTTCCTTCCCACCATCACCTGATGTCTTCAATACTTTGGAGGGCTTCAACTTGTCTGTTCCACACAGACTTGTTCCCCAAACTTAATTCTGCAAGCCCACCCACTGAGACTGAGTGGAGGGAAATAAAGACATTCCTCTCTCCTCACACCCTTTCTTTCACCTCCAATAAATTCTTCTACCATAACATCCAACAGACCCCAAATATGAGGCAGAAAGATTCTTCTTATCAATCACCCATGTCACACCACCATAAGAAATGCCTGGGAAACCCAAAGGGTTATAGGGCACCTTCCATCCGTCTTATCCTGTGGAGGCTGTACAGTTTGAGTTCCCGTAGATGGCAAATGCTCACCATTCTGTGACTGCCACCAGCGCATGGGGCCGGAGGATGAAGCCACATTCTCTACTCGGTGACTGTAGTAGTTGAGGCTGCCTGGAGTCACACTTGCAGCATTTCATCTGCCACTGTGGGAGAGGGAGATAGCAGACACTCAGAGGTGGGGTCCTGATAGAATTCCCCCTTGCGTCCTGAGATCCCAGCATATCTCCTCTGTGGAAATCCTGCCCTTAGGAATCACTAATTTTATTAATACAATTTGAAGGGTTAATCTCTTAAAACACAGCTATTGATCACCTTTTAATTGGTCATCTTTTAATTCCTTGGTGCCCCTCCTAACACATAGCAAGTGAATGGTGAATAGATGTGTGAACGGAGAAGAGGTACGAGGTGGGAAAAAATACTTGAGTATATGATATTGCCTTGCAGAGAAACTTGAGAAAAGTGCCGAGAAAAAAAAAAGGGGGGCGGGGGGAGAAATTCATATTATTTGAGCATCTACGACATACTGGGCACAGGCTGGAAAGTTTTATAGTTTACCTCATTTAATCCTGGCAGCCTGGGAAATTCTGGGGTTTTAAGGATCAGAGAGAGAGGACTCCAAAAGAGGACAAGGAAATGTGGAGTTACAGTCCTAGCTCTGTCACCTCTACTTCCTAGGCTTAACTTTCTCCTCCATAAATTAAGTGGGGATTGAGCTAGAGCTTTTCATTTACCCAGCAAATGCTTATTTAGCATATACTATGTGCCAGACTCTACTCTGGGCTCTGGAGTTACAATAGGGAACAAAACAAAGGCCCTGCCCTCAGGGACCCAAAATTCTAGTGACATTCAAATGATCTCTAAGGCCTTCCAGCAGTGACATCTGGGGCGTGAGGATCTTTCTCAGGTTCGGTATTCCCTACCTACAGGAGAGCAACCGGCCTCACTGGGGAGGTCACCAATAACCTGGCCTACGCTTATCTCTTGGAATGAGACAGGAGCCAGAACTGAACCCCATAGGTTTCATGGCAGAGCAAGGATCACCAAGAAAAAGAGCATGGCCAGAGAGGCGATATATCCCTTGTTCTTTTAGCTTGTGCCTATGTGCATACATATACACATACACACACACACACACACGCACACGCGTGCACATGCGCACACGCACACACACACACACAGATAACACGACCTTTTCCCAGCTCCCCCATATAACATACATAAAATCTGCTTTCTCTGAGTAGCCATGATCCCAAACCCTGTGCGCAGCTTAAACCATACTGTCCAGAGGGCTCCAGATTTACCCACAAATAGATGCAAGTCTTGGACAAGAAACTCCTGGACCTGCAGGTCCTTCTGGGTAGGGAAAACTGTCCCTCCACACACCCTGTACCGCTGCTTTCCTCTAAGCCTCCACTCACCAGAACAAAGAACCGACCCAAAGAGTCTGAGTGGATATATGGGGCCTATGCCTTGAGTGATAGAACCTCCCTGCCCAACACCCATCTTCCCTCTCCAAAGCTGGCACAGCCTGCAACAGGAGAGAGCAAAGAGGGGAGCCAGGTGTCTTGGTTCCCTGGGCCTCTGCTTCCCACTCCACTTTCCAGGTCTCACCCAGTCTGCAAATGAAGAGAACTATCACCCTTCCTAGTGCTTGGAGGTGCCCTTGGCATGTCCAAAAATGCTTTATTAAACATTCATTCTTTGGGTGTTTAAGGCTCAAATAACAGCTGGCACATAAGCCCTTTATAAAGTAGTACCCATTGGTGGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGGGGCAAGAGAATCGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGACGAGATCGTGCCACTGCACTCCAGCCTAGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAGTAATAAAATAAAATAAAGTAGCACCCATTGCCCCACCTCCCACCACTCACTGTGCATTCCCTTGCCCTGTTATATTTTTTTCATAGTACATANN
|
pathogenic
| 21,319
|
Chromosome 1, position 209650070, gene LAMB3 (laminin subunit beta 3): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Junctional_epidermolysis_bullosa,_non-Herlitz_type']
|
AGCACCCAGAGGGGGTTCAGGGTACATCTGTCCAGAGGACAAAAAGGGAGTCTCTATGCCTTTAGTATCTATCTTCATTGCTGGAACCCATGGCCTCTGCAAAGGGTAGGCATGTAGTAGTGAGGGAAAGAGAAATGAAACAAGACAGAGAGGTGGAAGATGGGGGAGAGATGCTGATTGTCAGCAGTCGGCTCATTGCCAAAGAATGTTAGGGAAAAGGAGGGACCCTAAAGACCATCTCATCTAATACTCACTTACAGAAAAGGACAGCGAGGCTTACACAGGGGTAATCTCTTGCCCAAGGTCACACCTCAAGTCAGTGGCAGACCTGAAACTACACACTACATGAAAGATACTCCCTGCTATCCTCTATTCTTTCCAAAAGGCTAGATAAATTTATTCCCCCTTAGAAAAAAAAGAAGAAACAGCCAGTGCTTCTCAGCTTTCACAGCAGAAAAATAGCTGAGATTTATCCATCCCCAGGGTTGCAAAAGTCTAGACTCTGTTTTATAAGCACCCTGTTTTGCTCTCAAGGGGCTACTTAGGAGCAGAGAAGACAGCTGGCTTCCTGGGGCATCAGAGAGGCAGAGGGCAGGCCAGTGTTAAGCCAAAAGCCCCAGGCCTGGAGGAGGAGAAACTTTTCAGACAGGACTGGGATCAAGGGTACATCCCAACATAGGGGTCTCTGACCTCTCCTTGCCTCCCCTCCCAAAATGCAAGTCAGCCTGAGAAAGGAAATCGGCAGAGGTCTCCCTGAAATTTTTAGATATGGGCTCATAATTTGGAGGTTATGGGTGGAGGGAACAGCCAAAATCACTCTGTTGCCTAAAAAAAAAAATTTTTTTAATTTTTATTTTTTTAAAAATTCAATACTCAATACTGCCAGGTCCCCTGATGCTCATGGAGTAATCTAGACCCACAGGGAGTCCTGGCTAGGGCTGGCCATCTTACCCAACCCTGTCAAATGAGCTTCCCCACATCCAAGTGGGTGAGATGCAAAAACCACAGCCATCTCTGCTCAGCAACTCCAGTCATTTCCCTATACCATCTGTGCTAAAATAGCCAAGAGAACACAGGGACTAGAAGGGCAGTGAGGCCCAGAGGCCATATCAGATACCACCTTCCACAGCCCAGAAGACAAGGGCAGCCTGGAAAGGGGACAGATAACCCCGGTCTCTTTCCCCAAAAGGCTACAGCAACTCGGGACAAATCACTCCCTTATCCATTCCCTTGTTCAAGCAAAATGGCTAAATGAGGCAGCTGGTAGACAAGAAAACACTGAGTGATTTCAACTTTGGTAAAGAAAGATTCCCCCCTGTTGAGGGCAAACAAAAAGAAAACCAAAGTTCCTATAAAAAAAGACCCAGAGACAAATTAGAAGAAAAGTTTGTAAAAGCCATGACTAACAGGCAATGTTAGTCATAGCTCAAAGCATCGTGTTTCTGGATTTGATCCAACTTACATCTGAGCCTCTGACCCTGCTGGATAAGCTCAAGTCACTTCCTCATCTATCTCACTGACCATGGCACAGCTCAGTTCCTGCCATGGCAAGAACACAGTTCGGCCCACACATCCCAGCACCAAATAACACATGAGGCTCCATACACATAAACGGCCAGTGTTTGGCCTATTTGCCTATTCCCAAGACTTGAAAGACTATCCTGCCCATGCCCAAGGACTGAGAAAAGACTCCGTGTCATCTCAGAGAGATAAGAGAGAAATGAGCTATTTAGTTAATTCTGAGTACATTTCCTCTTGCCCAACCAACAGGTAAATTCCTTAGAGGCAAGGATCTGGCCTTATACTTTTACTGCACTCCCCAGTCCGTGTAGTACACAGGGCTTGGCCTACACCAAGTACATTCTAAGTATTCAGTGGACAAATGGCAGCTCACACACCCCTCCCATCCCGCCTTCCTCCAGTCCTGGGAAGTAGGGCCTACCTCGCCATACTGGGTGCAGTAGGTCTCAGGCTTGGTCAGTCCACAGGTAGATGAAGCTCGGAGAAACCGGGTCCTCCCAACAAGCAGGTCCCCAACAGGTGGATAGCAGGCCCCACGGGAGCAGGCTTGTTGGGCATGCAGGAGGCCAGGCAGGGCTGAAATCACAGGGATGTGTGATGGAGCAGTCCAGAAAAAAAGGGACCTCACTGGCCACCCCAGTATCTTTCAGGGAAGCTGACATTAGCAAGATTATATCCTTTCCCTCACTCAAGCTTCCACTCGCTGCTGGCAGTAATAATTGCAGTATTGATACTGTTATATTTTGAAAGTTGATTTCATATTCCAGAACTCAAAACTTGAAAAGGAGAAGAGGAGAAACACTGGCAACCAAAAACCATAGATGACCCTAAAATATGGCTTTTAGAACCAGACTGGAGACATAGACTCGGCCATCATGACAAGGTCCGCAGCTCTTTCCACCTGCATTGTGGCCTCTGTCAGCAGCCCAGAGGAGGGCTGACTGCTGAGCCATTGGCAGAACATTAAGAAAGGCCTGCATTTATTCTGCTCCTTTATCTTCAAAGCTGCCCCAGCCATACTTTGTGAGTGCCCAGCTACAATTCACTGGAAAACAGGAACTTAAGCCACAGTGGCTCTGGAACCAGCTTGAGAAAGGATGGGAAACTGTGGAGAGCACTCAGGAAACCACAAACCACCCTCGGCTGAGAATAAGAAGACATTTGGGAGCCTTTCCAGAGTGGCAGAGAAACTTCTTCCCCAAAGGCCCAAAGGAATGGGGAAATCTCACAGGTGTCCCCAGTAGACAAGTATTCCCAACTGAAGGGACTACAGGTGACAGGTGATGCCCACACTTTGGTAAACTCTCCTTCTCCCTGTGGCTGTTGCCTCCCTGCCATATAACAGGGCCTGGAAGGATGGGAAGGGGTACTTACCAAAACACAAGAGGAAGAATGGTCTCATCTTCAGCCAATGGGGTGATCCCCAGAAAGGACCTTTCCTAGGACACAGCAAAGCAAACTGGGTACAACAGTGCAAACCCCTAGAGCACACTAGCCCTTTTTCTTTTCTGTTTCTAGACTCAAGTATTTTTCAGAAGTCTTTACCTAGGGTCCTGATCTAGGACACTTGGAGCAGCAGATACATTTGTAGCTTGGAAAATGCTGGAGCTCTAGACCCTTGTCTCAAGTGGCATGTGACTCACAGGGTGCCCTGGGAAAATCCCATCCCTTCCCAGACTCCAGCTTCCTCCTCTAAAATGGATGGGAAGGAGTGTGGACCCTGCCCTACCCCACACAGCCGTAAGGACAACGTGGGGAGCAGGAAAAGGCTGGACCCTTTGCAGGAGAAAAGCTGTAGAAAGGGCCAAGACCTAGTTCCAGCCCCAAGAGAGAGGGCTGGCTTTTCTCAGGGCCTAGACCAGCAGCCTCAACCCAGCCCCGCCCAAAGTGAATGAGTCAGAGTGGCTGACGGCCTGGAGGCAAACCTTCTCCTGTCACGGGCATGGCCTCCAATACCATTCAGGGCCACTTTGAGTTTGAGGCTCTGTGCCCACAATTCTGGGATGCAACAGGGAGAGATGTATGGCTGTCTTTAACAAGTGAGTGAGGGTTTCTTCTGAAAGGGAAGCAACCCAAAATGTCTTCAATGATGGGCTGGGGCTCGACAAGAGGGGTGGGGCTGGGAGGCCACAAAGCAGGGATTCTGAAGGAGGCTGGGGAAGGATGCTCGAAAGCCACCGTGGGGTCCCAGAGGCAGGCCTGCCTTGTGGAAACATGCCCCACCCTTGCTCATGCAGTGACCCTTCTGCCTTGAATTGGATGTTCACTCTGTTCCAATGACAGCCACAAACTCTTTTGGCTGGGGTGGAGGGCTGGGGGCTTGGCAAGGCAGGGGCGGGGGGGGAAATTGAGGACATTTCTGGCATCTTTAAATTATAGATCCTAATGCTTCAAAATCATTCCTTCCAATCCCTCTCCTAAAAGAGTCATGGGCCCAGGGAGGGAACATGTGGCCTGGGGTCCCACAGCTAACGATGGCCTAAGAGAGACCCATCTTCTGACTTTCATCCAGTGCTTTCTCAGCTTTCCCACCCCTGACTGAAAATCCCCCTGCAAGTAGGCATTCTGAGCCAGG
|
AGCACCCAGAGGGGGTTCAGGGTACATCTGTCCAGAGGACAAAAAGGGAGTCTCTATGCCTTTAGTATCTATCTTCATTGCTGGAACCCATGGCCTCTGCAAAGGGTAGGCATGTAGTAGTGAGGGAAAGAGAAATGAAACAAGACAGAGAGGTGGAAGATGGGGGAGAGATGCTGATTGTCAGCAGTCGGCTCATTGCCAAAGAATGTTAGGGAAAAGGAGGGACCCTAAAGACCATCTCATCTAATACTCACTTACAGAAAAGGACAGCGAGGCTTACACAGGGGTAATCTCTTGCCCAAGGTCACACCTCAAGTCAGTGGCAGACCTGAAACTACACACTACATGAAAGATACTCCCTGCTATCCTCTATTCTTTCCAAAAGGCTAGATAAATTTATTCCCCCTTAGAAAAAAAAGAAGAAACAGCCAGTGCTTCTCAGCTTTCACAGCAGAAAAATAGCTGAGATTTATCCATCCCCAGGGTTGCAAAAGTCTAGACTCTGTTTTATAAGCACCCTGTTTTGCTCTCAAGGGGCTACTTAGGAGCAGAGAAGACAGCTGGCTTCCTGGGGCATCAGAGAGGCAGAGGGCAGGCCAGTGTTAAGCCAAAAGCCCCAGGCCTGGAGGAGGAGAAACTTTTCAGACAGGACTGGGATCAAGGGTACATCCCAACATAGGGGTCTCTGACCTCTCCTTGCCTCCCCTCCCAAAATGCAAGTCAGCCTGAGAAAGGAAATCGGCAGAGGTCTCCCTGAAATTTTTAGATATGGGCTCATAATTTGGAGGTTATGGGTGGAGGGAACAGCCAAAATCACTCTGTTGCCTAAAAAAAAAAATTTTTTTAATTTTTATTTTTTTAAAAATTCAATACTCAATACTGCCAGGTCCCCTGATGCTCATGGAGTAATCTAGACCCACAGGGAGTCCTGGCTAGGGCTGGCCATCTTACCCAACCCTGTCAAATGAGCTTCCCCACATCCAAGTGGGTGAGATGCAAAAACCACAGCCATCTCTGCTCAGCAACTCCAGTCATTTCCCTATACCATCTGTGCTAAAATAGCCAAGAGAACACAGGGACTAGAAGGGCAGTGAGGCCCAGAGGCCATATCAGATACCACCTTCCACAGCCCAGAAGACAAGGGCAGCCTGGAAAGGGGACAGATAACCCCGGTCTCTTTCCCCAAAAGGCTACAGCAACTCGGGACAAATCACTCCCTTATCCATTCCCTTGTTCAAGCAAAATGGCTAAATGAGGCAGCTGGTAGACAAGAAAACACTGAGTGATTTCAACTTTGGTAAAGAAAGATTCCCCCCTGTTGAGGGCAAACAAAAAGAAAACCAAAGTTCCTATAAAAAAAGACCCAGAGACAAATTAGAAGAAAAGTTTGTAAAAGCCATGACTAACAGGCAATGTTAGTCATAGCTCAAAGCATCGTGTTTCTGGATTTGATCCAACTTACATCTGAGCCTCTGACCCTGCTGGATAAGCTCAAGTCACTTCCTCATCTATCTCACTGACCATGGCACAGCTCAGTTCCTGCCATGGCAAGAACACAGTTCGGCCCACACATCCCAGCACCAAATAACACATGAGGCTCCATACACATAAACGGCCAGTGTTTGGCCTATTTGCCTATTCCCAAGACTTGAAAGACTATCCTGCCCATGCCCAAGGACTGAGAAAAGACTCCGTGTCATCTCAGAGAGATAAGAGAGAAATGAGCTATTTAGTTAATTCTGAGTACATTTCCTCTTGCCCAACCAACAGGTAAATTCCTTAGAGGCAAGGATCTGGCCTTATACTTTTACTGCACTCCCCAGTCCGTGTAGTACACAGGGCTTGGCCTACACCAAGTACATTCTAAGTATTCAGTGGACAAATGGCAGCTCACACACCCCTCCCATCCCGCCTTCCTCCAGTCCTGGGAAGTAGGGCCTACCTCGCCATACTGGGTGCAGTAGGTCTCAGGCTTGGTCAGTCCACAGGTAGATGAAGCTCGGAGAAACCGGGTCCTCCCAACAAGCAGGTCCCCAACAGGTGGATAGCAAGGCCCCACGGGAGCAGGCTTGTTGGGCATGCAGGAGGCCAGGCAGGGCTGAAATCACAGGGATGTGTGATGGAGCAGTCCAGAAAAAAAGGGACCTCACTGGCCACCCCAGTATCTTTCAGGGAAGCTGACATTAGCAAGATTATATCCTTTCCCTCACTCAAGCTTCCACTCGCTGCTGGCAGTAATAATTGCAGTATTGATACTGTTATATTTTGAAAGTTGATTTCATATTCCAGAACTCAAAACTTGAAAAGGAGAAGAGGAGAAACACTGGCAACCAAAAACCATAGATGACCCTAAAATATGGCTTTTAGAACCAGACTGGAGACATAGACTCGGCCATCATGACAAGGTCCGCAGCTCTTTCCACCTGCATTGTGGCCTCTGTCAGCAGCCCAGAGGAGGGCTGACTGCTGAGCCATTGGCAGAACATTAAGAAAGGCCTGCATTTATTCTGCTCCTTTATCTTCAAAGCTGCCCCAGCCATACTTTGTGAGTGCCCAGCTACAATTCACTGGAAAACAGGAACTTAAGCCACAGTGGCTCTGGAACCAGCTTGAGAAAGGATGGGAAACTGTGGAGAGCACTCAGGAAACCACAAACCACCCTCGGCTGAGAATAAGAAGACATTTGGGAGCCTTTCCAGAGTGGCAGAGAAACTTCTTCCCCAAAGGCCCAAAGGAATGGGGAAATCTCACAGGTGTCCCCAGTAGACAAGTATTCCCAACTGAAGGGACTACAGGTGACAGGTGATGCCCACACTTTGGTAAACTCTCCTTCTCCCTGTGGCTGTTGCCTCCCTGCCATATAACAGGGCCTGGAAGGATGGGAAGGGGTACTTACCAAAACACAAGAGGAAGAATGGTCTCATCTTCAGCCAATGGGGTGATCCCCAGAAAGGACCTTTCCTAGGACACAGCAAAGCAAACTGGGTACAACAGTGCAAACCCCTAGAGCACACTAGCCCTTTTTCTTTTCTGTTTCTAGACTCAAGTATTTTTCAGAAGTCTTTACCTAGGGTCCTGATCTAGGACACTTGGAGCAGCAGATACATTTGTAGCTTGGAAAATGCTGGAGCTCTAGACCCTTGTCTCAAGTGGCATGTGACTCACAGGGTGCCCTGGGAAAATCCCATCCCTTCCCAGACTCCAGCTTCCTCCTCTAAAATGGATGGGAAGGAGTGTGGACCCTGCCCTACCCCACACAGCCGTAAGGACAACGTGGGGAGCAGGAAAAGGCTGGACCCTTTGCAGGAGAAAAGCTGTAGAAAGGGCCAAGACCTAGTTCCAGCCCCAAGAGAGAGGGCTGGCTTTTCTCAGGGCCTAGACCAGCAGCCTCAACCCAGCCCCGCCCAAAGTGAATGAGTCAGAGTGGCTGACGGCCTGGAGGCAAACCTTCTCCTGTCACGGGCATGGCCTCCAATACCATTCAGGGCCACTTTGAGTTTGAGGCTCTGTGCCCACAATTCTGGGATGCAACAGGGAGAGATGTATGGCTGTCTTTAACAAGTGAGTGAGGGTTTCTTCTGAAAGGGAAGCAACCCAAAATGTCTTCAATGATGGGCTGGGGCTCGACAAGAGGGGTGGGGCTGGGAGGCCACAAAGCAGGGATTCTGAAGGAGGCTGGGGAAGGATGCTCGAAAGCCACCGTGGGGTCCCAGAGGCAGGCCTGCCTTGTGGAAACATGCCCCACCCTTGCTCATGCAGTGACCCTTCTGCCTTGAATTGGATGTTCACTCTGTTCCAATGACAGCCACAAACTCTTTTGGCTGGGGTGGAGGGCTGGGGGCTTGGCAAGGCAGGGGCGGGGGGGGAAATTGAGGACATTTCTGGCATCTTTAAATTATAGATCCTAATGCTTCAAAATCATTCCTTCCAATCCCTCTCCTAAAAGAGTCATGGGCCCAGGGAGGGAACATGTGGCCTGGGGTCCCACAGCTAACGATGGCCTAAGAGAGACCCATCTTCTGACTTTCATCCAGTGCTTTCTCAGCTTTCCCACCCCTGACTGAAAATCCCCCTGCAAGTAGGCATTCTGAGCCAG
|
pathogenic
| 21,323
|
Regarding the variant found on chromosome 1 at position 209650076 in gene LAMB3 (laminin subunit beta 3): is it benign or pathogenic? If pathogenic, identify the disease(s).
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pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz']
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CAGAGGGGGTTCAGGGTACATCTGTCCAGAGGACAAAAAGGGAGTCTCTATGCCTTTAGTATCTATCTTCATTGCTGGAACCCATGGCCTCTGCAAAGGGTAGGCATGTAGTAGTGAGGGAAAGAGAAATGAAACAAGACAGAGAGGTGGAAGATGGGGGAGAGATGCTGATTGTCAGCAGTCGGCTCATTGCCAAAGAATGTTAGGGAAAAGGAGGGACCCTAAAGACCATCTCATCTAATACTCACTTACAGAAAAGGACAGCGAGGCTTACACAGGGGTAATCTCTTGCCCAAGGTCACACCTCAAGTCAGTGGCAGACCTGAAACTACACACTACATGAAAGATACTCCCTGCTATCCTCTATTCTTTCCAAAAGGCTAGATAAATTTATTCCCCCTTAGAAAAAAAAGAAGAAACAGCCAGTGCTTCTCAGCTTTCACAGCAGAAAAATAGCTGAGATTTATCCATCCCCAGGGTTGCAAAAGTCTAGACTCTGTTTTATAAGCACCCTGTTTTGCTCTCAAGGGGCTACTTAGGAGCAGAGAAGACAGCTGGCTTCCTGGGGCATCAGAGAGGCAGAGGGCAGGCCAGTGTTAAGCCAAAAGCCCCAGGCCTGGAGGAGGAGAAACTTTTCAGACAGGACTGGGATCAAGGGTACATCCCAACATAGGGGTCTCTGACCTCTCCTTGCCTCCCCTCCCAAAATGCAAGTCAGCCTGAGAAAGGAAATCGGCAGAGGTCTCCCTGAAATTTTTAGATATGGGCTCATAATTTGGAGGTTATGGGTGGAGGGAACAGCCAAAATCACTCTGTTGCCTAAAAAAAAAAATTTTTTTAATTTTTATTTTTTTAAAAATTCAATACTCAATACTGCCAGGTCCCCTGATGCTCATGGAGTAATCTAGACCCACAGGGAGTCCTGGCTAGGGCTGGCCATCTTACCCAACCCTGTCAAATGAGCTTCCCCACATCCAAGTGGGTGAGATGCAAAAACCACAGCCATCTCTGCTCAGCAACTCCAGTCATTTCCCTATACCATCTGTGCTAAAATAGCCAAGAGAACACAGGGACTAGAAGGGCAGTGAGGCCCAGAGGCCATATCAGATACCACCTTCCACAGCCCAGAAGACAAGGGCAGCCTGGAAAGGGGACAGATAACCCCGGTCTCTTTCCCCAAAAGGCTACAGCAACTCGGGACAAATCACTCCCTTATCCATTCCCTTGTTCAAGCAAAATGGCTAAATGAGGCAGCTGGTAGACAAGAAAACACTGAGTGATTTCAACTTTGGTAAAGAAAGATTCCCCCCTGTTGAGGGCAAACAAAAAGAAAACCAAAGTTCCTATAAAAAAAGACCCAGAGACAAATTAGAAGAAAAGTTTGTAAAAGCCATGACTAACAGGCAATGTTAGTCATAGCTCAAAGCATCGTGTTTCTGGATTTGATCCAACTTACATCTGAGCCTCTGACCCTGCTGGATAAGCTCAAGTCACTTCCTCATCTATCTCACTGACCATGGCACAGCTCAGTTCCTGCCATGGCAAGAACACAGTTCGGCCCACACATCCCAGCACCAAATAACACATGAGGCTCCATACACATAAACGGCCAGTGTTTGGCCTATTTGCCTATTCCCAAGACTTGAAAGACTATCCTGCCCATGCCCAAGGACTGAGAAAAGACTCCGTGTCATCTCAGAGAGATAAGAGAGAAATGAGCTATTTAGTTAATTCTGAGTACATTTCCTCTTGCCCAACCAACAGGTAAATTCCTTAGAGGCAAGGATCTGGCCTTATACTTTTACTGCACTCCCCAGTCCGTGTAGTACACAGGGCTTGGCCTACACCAAGTACATTCTAAGTATTCAGTGGACAAATGGCAGCTCACACACCCCTCCCATCCCGCCTTCCTCCAGTCCTGGGAAGTAGGGCCTACCTCGCCATACTGGGTGCAGTAGGTCTCAGGCTTGGTCAGTCCACAGGTAGATGAAGCTCGGAGAAACCGGGTCCTCCCAACAAGCAGGTCCCCAACAGGTGGATAGCAGGCCCCACGGGAGCAGGCTTGTTGGGCATGCAGGAGGCCAGGCAGGGCTGAAATCACAGGGATGTGTGATGGAGCAGTCCAGAAAAAAAGGGACCTCACTGGCCACCCCAGTATCTTTCAGGGAAGCTGACATTAGCAAGATTATATCCTTTCCCTCACTCAAGCTTCCACTCGCTGCTGGCAGTAATAATTGCAGTATTGATACTGTTATATTTTGAAAGTTGATTTCATATTCCAGAACTCAAAACTTGAAAAGGAGAAGAGGAGAAACACTGGCAACCAAAAACCATAGATGACCCTAAAATATGGCTTTTAGAACCAGACTGGAGACATAGACTCGGCCATCATGACAAGGTCCGCAGCTCTTTCCACCTGCATTGTGGCCTCTGTCAGCAGCCCAGAGGAGGGCTGACTGCTGAGCCATTGGCAGAACATTAAGAAAGGCCTGCATTTATTCTGCTCCTTTATCTTCAAAGCTGCCCCAGCCATACTTTGTGAGTGCCCAGCTACAATTCACTGGAAAACAGGAACTTAAGCCACAGTGGCTCTGGAACCAGCTTGAGAAAGGATGGGAAACTGTGGAGAGCACTCAGGAAACCACAAACCACCCTCGGCTGAGAATAAGAAGACATTTGGGAGCCTTTCCAGAGTGGCAGAGAAACTTCTTCCCCAAAGGCCCAAAGGAATGGGGAAATCTCACAGGTGTCCCCAGTAGACAAGTATTCCCAACTGAAGGGACTACAGGTGACAGGTGATGCCCACACTTTGGTAAACTCTCCTTCTCCCTGTGGCTGTTGCCTCCCTGCCATATAACAGGGCCTGGAAGGATGGGAAGGGGTACTTACCAAAACACAAGAGGAAGAATGGTCTCATCTTCAGCCAATGGGGTGATCCCCAGAAAGGACCTTTCCTAGGACACAGCAAAGCAAACTGGGTACAACAGTGCAAACCCCTAGAGCACACTAGCCCTTTTTCTTTTCTGTTTCTAGACTCAAGTATTTTTCAGAAGTCTTTACCTAGGGTCCTGATCTAGGACACTTGGAGCAGCAGATACATTTGTAGCTTGGAAAATGCTGGAGCTCTAGACCCTTGTCTCAAGTGGCATGTGACTCACAGGGTGCCCTGGGAAAATCCCATCCCTTCCCAGACTCCAGCTTCCTCCTCTAAAATGGATGGGAAGGAGTGTGGACCCTGCCCTACCCCACACAGCCGTAAGGACAACGTGGGGAGCAGGAAAAGGCTGGACCCTTTGCAGGAGAAAAGCTGTAGAAAGGGCCAAGACCTAGTTCCAGCCCCAAGAGAGAGGGCTGGCTTTTCTCAGGGCCTAGACCAGCAGCCTCAACCCAGCCCCGCCCAAAGTGAATGAGTCAGAGTGGCTGACGGCCTGGAGGCAAACCTTCTCCTGTCACGGGCATGGCCTCCAATACCATTCAGGGCCACTTTGAGTTTGAGGCTCTGTGCCCACAATTCTGGGATGCAACAGGGAGAGATGTATGGCTGTCTTTAACAAGTGAGTGAGGGTTTCTTCTGAAAGGGAAGCAACCCAAAATGTCTTCAATGATGGGCTGGGGCTCGACAAGAGGGGTGGGGCTGGGAGGCCACAAAGCAGGGATTCTGAAGGAGGCTGGGGAAGGATGCTCGAAAGCCACCGTGGGGTCCCAGAGGCAGGCCTGCCTTGTGGAAACATGCCCCACCCTTGCTCATGCAGTGACCCTTCTGCCTTGAATTGGATGTTCACTCTGTTCCAATGACAGCCACAAACTCTTTTGGCTGGGGTGGAGGGCTGGGGGCTTGGCAAGGCAGGGGCGGGGGGGGAAATTGAGGACATTTCTGGCATCTTTAAATTATAGATCCTAATGCTTCAAAATCATTCCTTCCAATCCCTCTCCTAAAAGAGTCATGGGCCCAGGGAGGGAACATGTGGCCTGGGGTCCCACAGCTAACGATGGCCTAAGAGAGACCCATCTTCTGACTTTCATCCAGTGCTTTCTCAGCTTTCCCACCCCTGACTGAAAATCCCCCTGCAAGTAGGCATTCTGAGCCAGGCCAGCC
|
CAGAGGGGGTTCAGGGTACATCTGTCCAGAGGACAAAAAGGGAGTCTCTATGCCTTTAGTATCTATCTTCATTGCTGGAACCCATGGCCTCTGCAAAGGGTAGGCATGTAGTAGTGAGGGAAAGAGAAATGAAACAAGACAGAGAGGTGGAAGATGGGGGAGAGATGCTGATTGTCAGCAGTCGGCTCATTGCCAAAGAATGTTAGGGAAAAGGAGGGACCCTAAAGACCATCTCATCTAATACTCACTTACAGAAAAGGACAGCGAGGCTTACACAGGGGTAATCTCTTGCCCAAGGTCACACCTCAAGTCAGTGGCAGACCTGAAACTACACACTACATGAAAGATACTCCCTGCTATCCTCTATTCTTTCCAAAAGGCTAGATAAATTTATTCCCCCTTAGAAAAAAAAGAAGAAACAGCCAGTGCTTCTCAGCTTTCACAGCAGAAAAATAGCTGAGATTTATCCATCCCCAGGGTTGCAAAAGTCTAGACTCTGTTTTATAAGCACCCTGTTTTGCTCTCAAGGGGCTACTTAGGAGCAGAGAAGACAGCTGGCTTCCTGGGGCATCAGAGAGGCAGAGGGCAGGCCAGTGTTAAGCCAAAAGCCCCAGGCCTGGAGGAGGAGAAACTTTTCAGACAGGACTGGGATCAAGGGTACATCCCAACATAGGGGTCTCTGACCTCTCCTTGCCTCCCCTCCCAAAATGCAAGTCAGCCTGAGAAAGGAAATCGGCAGAGGTCTCCCTGAAATTTTTAGATATGGGCTCATAATTTGGAGGTTATGGGTGGAGGGAACAGCCAAAATCACTCTGTTGCCTAAAAAAAAAAATTTTTTTAATTTTTATTTTTTTAAAAATTCAATACTCAATACTGCCAGGTCCCCTGATGCTCATGGAGTAATCTAGACCCACAGGGAGTCCTGGCTAGGGCTGGCCATCTTACCCAACCCTGTCAAATGAGCTTCCCCACATCCAAGTGGGTGAGATGCAAAAACCACAGCCATCTCTGCTCAGCAACTCCAGTCATTTCCCTATACCATCTGTGCTAAAATAGCCAAGAGAACACAGGGACTAGAAGGGCAGTGAGGCCCAGAGGCCATATCAGATACCACCTTCCACAGCCCAGAAGACAAGGGCAGCCTGGAAAGGGGACAGATAACCCCGGTCTCTTTCCCCAAAAGGCTACAGCAACTCGGGACAAATCACTCCCTTATCCATTCCCTTGTTCAAGCAAAATGGCTAAATGAGGCAGCTGGTAGACAAGAAAACACTGAGTGATTTCAACTTTGGTAAAGAAAGATTCCCCCCTGTTGAGGGCAAACAAAAAGAAAACCAAAGTTCCTATAAAAAAAGACCCAGAGACAAATTAGAAGAAAAGTTTGTAAAAGCCATGACTAACAGGCAATGTTAGTCATAGCTCAAAGCATCGTGTTTCTGGATTTGATCCAACTTACATCTGAGCCTCTGACCCTGCTGGATAAGCTCAAGTCACTTCCTCATCTATCTCACTGACCATGGCACAGCTCAGTTCCTGCCATGGCAAGAACACAGTTCGGCCCACACATCCCAGCACCAAATAACACATGAGGCTCCATACACATAAACGGCCAGTGTTTGGCCTATTTGCCTATTCCCAAGACTTGAAAGACTATCCTGCCCATGCCCAAGGACTGAGAAAAGACTCCGTGTCATCTCAGAGAGATAAGAGAGAAATGAGCTATTTAGTTAATTCTGAGTACATTTCCTCTTGCCCAACCAACAGGTAAATTCCTTAGAGGCAAGGATCTGGCCTTATACTTTTACTGCACTCCCCAGTCCGTGTAGTACACAGGGCTTGGCCTACACCAAGTACATTCTAAGTATTCAGTGGACAAATGGCAGCTCACACACCCCTCCCATCCCGCCTTCCTCCAGTCCTGGGAAGTAGGGCCTACCTCGCCATACTGGGTGCAGTAGGTCTCAGGCTTGGTCAGTCCACAGGTAGATGAAGCTCGGAGAAACCGGGTCCTCCCAACAAGCAGGTCCCCAACAGGTGGATAGCAGGCCCCGGGAGCAGGCTTGTTGGGCATGCAGGAGGCCAGGCAGGGCTGAAATCACAGGGATGTGTGATGGAGCAGTCCAGAAAAAAAGGGACCTCACTGGCCACCCCAGTATCTTTCAGGGAAGCTGACATTAGCAAGATTATATCCTTTCCCTCACTCAAGCTTCCACTCGCTGCTGGCAGTAATAATTGCAGTATTGATACTGTTATATTTTGAAAGTTGATTTCATATTCCAGAACTCAAAACTTGAAAAGGAGAAGAGGAGAAACACTGGCAACCAAAAACCATAGATGACCCTAAAATATGGCTTTTAGAACCAGACTGGAGACATAGACTCGGCCATCATGACAAGGTCCGCAGCTCTTTCCACCTGCATTGTGGCCTCTGTCAGCAGCCCAGAGGAGGGCTGACTGCTGAGCCATTGGCAGAACATTAAGAAAGGCCTGCATTTATTCTGCTCCTTTATCTTCAAAGCTGCCCCAGCCATACTTTGTGAGTGCCCAGCTACAATTCACTGGAAAACAGGAACTTAAGCCACAGTGGCTCTGGAACCAGCTTGAGAAAGGATGGGAAACTGTGGAGAGCACTCAGGAAACCACAAACCACCCTCGGCTGAGAATAAGAAGACATTTGGGAGCCTTTCCAGAGTGGCAGAGAAACTTCTTCCCCAAAGGCCCAAAGGAATGGGGAAATCTCACAGGTGTCCCCAGTAGACAAGTATTCCCAACTGAAGGGACTACAGGTGACAGGTGATGCCCACACTTTGGTAAACTCTCCTTCTCCCTGTGGCTGTTGCCTCCCTGCCATATAACAGGGCCTGGAAGGATGGGAAGGGGTACTTACCAAAACACAAGAGGAAGAATGGTCTCATCTTCAGCCAATGGGGTGATCCCCAGAAAGGACCTTTCCTAGGACACAGCAAAGCAAACTGGGTACAACAGTGCAAACCCCTAGAGCACACTAGCCCTTTTTCTTTTCTGTTTCTAGACTCAAGTATTTTTCAGAAGTCTTTACCTAGGGTCCTGATCTAGGACACTTGGAGCAGCAGATACATTTGTAGCTTGGAAAATGCTGGAGCTCTAGACCCTTGTCTCAAGTGGCATGTGACTCACAGGGTGCCCTGGGAAAATCCCATCCCTTCCCAGACTCCAGCTTCCTCCTCTAAAATGGATGGGAAGGAGTGTGGACCCTGCCCTACCCCACACAGCCGTAAGGACAACGTGGGGAGCAGGAAAAGGCTGGACCCTTTGCAGGAGAAAAGCTGTAGAAAGGGCCAAGACCTAGTTCCAGCCCCAAGAGAGAGGGCTGGCTTTTCTCAGGGCCTAGACCAGCAGCCTCAACCCAGCCCCGCCCAAAGTGAATGAGTCAGAGTGGCTGACGGCCTGGAGGCAAACCTTCTCCTGTCACGGGCATGGCCTCCAATACCATTCAGGGCCACTTTGAGTTTGAGGCTCTGTGCCCACAATTCTGGGATGCAACAGGGAGAGATGTATGGCTGTCTTTAACAAGTGAGTGAGGGTTTCTTCTGAAAGGGAAGCAACCCAAAATGTCTTCAATGATGGGCTGGGGCTCGACAAGAGGGGTGGGGCTGGGAGGCCACAAAGCAGGGATTCTGAAGGAGGCTGGGGAAGGATGCTCGAAAGCCACCGTGGGGTCCCAGAGGCAGGCCTGCCTTGTGGAAACATGCCCCACCCTTGCTCATGCAGTGACCCTTCTGCCTTGAATTGGATGTTCACTCTGTTCCAATGACAGCCACAAACTCTTTTGGCTGGGGTGGAGGGCTGGGGGCTTGGCAAGGCAGGGGCGGGGGGGGAAATTGAGGACATTTCTGGCATCTTTAAATTATAGATCCTAATGCTTCAAAATCATTCCTTCCAATCCCTCTCCTAAAAGAGTCATGGGCCCAGGGAGGGAACATGTGGCCTGGGGTCCCACAGCTAACGATGGCCTAAGAGAGACCCATCTTCTGACTTTCATCCAGTGCTTTCTCAGCTTTCCCACCCCTGACTGAAAATCCCCCTGCAAGTAGGCATTCTGAGCCAGGCCAGCCNN
|
pathogenic
| 21,324
|
Considering the variant on chromosome 1, location 209650115, involving gene LAMB3 (laminin subunit beta 3), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz', 'LAMB3-related_disorder']
|
GGGAGTCTCTATGCCTTTAGTATCTATCTTCATTGCTGGAACCCATGGCCTCTGCAAAGGGTAGGCATGTAGTAGTGAGGGAAAGAGAAATGAAACAAGACAGAGAGGTGGAAGATGGGGGAGAGATGCTGATTGTCAGCAGTCGGCTCATTGCCAAAGAATGTTAGGGAAAAGGAGGGACCCTAAAGACCATCTCATCTAATACTCACTTACAGAAAAGGACAGCGAGGCTTACACAGGGGTAATCTCTTGCCCAAGGTCACACCTCAAGTCAGTGGCAGACCTGAAACTACACACTACATGAAAGATACTCCCTGCTATCCTCTATTCTTTCCAAAAGGCTAGATAAATTTATTCCCCCTTAGAAAAAAAAGAAGAAACAGCCAGTGCTTCTCAGCTTTCACAGCAGAAAAATAGCTGAGATTTATCCATCCCCAGGGTTGCAAAAGTCTAGACTCTGTTTTATAAGCACCCTGTTTTGCTCTCAAGGGGCTACTTAGGAGCAGAGAAGACAGCTGGCTTCCTGGGGCATCAGAGAGGCAGAGGGCAGGCCAGTGTTAAGCCAAAAGCCCCAGGCCTGGAGGAGGAGAAACTTTTCAGACAGGACTGGGATCAAGGGTACATCCCAACATAGGGGTCTCTGACCTCTCCTTGCCTCCCCTCCCAAAATGCAAGTCAGCCTGAGAAAGGAAATCGGCAGAGGTCTCCCTGAAATTTTTAGATATGGGCTCATAATTTGGAGGTTATGGGTGGAGGGAACAGCCAAAATCACTCTGTTGCCTAAAAAAAAAAATTTTTTTAATTTTTATTTTTTTAAAAATTCAATACTCAATACTGCCAGGTCCCCTGATGCTCATGGAGTAATCTAGACCCACAGGGAGTCCTGGCTAGGGCTGGCCATCTTACCCAACCCTGTCAAATGAGCTTCCCCACATCCAAGTGGGTGAGATGCAAAAACCACAGCCATCTCTGCTCAGCAACTCCAGTCATTTCCCTATACCATCTGTGCTAAAATAGCCAAGAGAACACAGGGACTAGAAGGGCAGTGAGGCCCAGAGGCCATATCAGATACCACCTTCCACAGCCCAGAAGACAAGGGCAGCCTGGAAAGGGGACAGATAACCCCGGTCTCTTTCCCCAAAAGGCTACAGCAACTCGGGACAAATCACTCCCTTATCCATTCCCTTGTTCAAGCAAAATGGCTAAATGAGGCAGCTGGTAGACAAGAAAACACTGAGTGATTTCAACTTTGGTAAAGAAAGATTCCCCCCTGTTGAGGGCAAACAAAAAGAAAACCAAAGTTCCTATAAAAAAAGACCCAGAGACAAATTAGAAGAAAAGTTTGTAAAAGCCATGACTAACAGGCAATGTTAGTCATAGCTCAAAGCATCGTGTTTCTGGATTTGATCCAACTTACATCTGAGCCTCTGACCCTGCTGGATAAGCTCAAGTCACTTCCTCATCTATCTCACTGACCATGGCACAGCTCAGTTCCTGCCATGGCAAGAACACAGTTCGGCCCACACATCCCAGCACCAAATAACACATGAGGCTCCATACACATAAACGGCCAGTGTTTGGCCTATTTGCCTATTCCCAAGACTTGAAAGACTATCCTGCCCATGCCCAAGGACTGAGAAAAGACTCCGTGTCATCTCAGAGAGATAAGAGAGAAATGAGCTATTTAGTTAATTCTGAGTACATTTCCTCTTGCCCAACCAACAGGTAAATTCCTTAGAGGCAAGGATCTGGCCTTATACTTTTACTGCACTCCCCAGTCCGTGTAGTACACAGGGCTTGGCCTACACCAAGTACATTCTAAGTATTCAGTGGACAAATGGCAGCTCACACACCCCTCCCATCCCGCCTTCCTCCAGTCCTGGGAAGTAGGGCCTACCTCGCCATACTGGGTGCAGTAGGTCTCAGGCTTGGTCAGTCCACAGGTAGATGAAGCTCGGAGAAACCGGGTCCTCCCAACAAGCAGGTCCCCAACAGGTGGATAGCAGGCCCCACGGGAGCAGGCTTGTTGGGCATGCAGGAGGCCAGGCAGGGCTGAAATCACAGGGATGTGTGATGGAGCAGTCCAGAAAAAAAGGGACCTCACTGGCCACCCCAGTATCTTTCAGGGAAGCTGACATTAGCAAGATTATATCCTTTCCCTCACTCAAGCTTCCACTCGCTGCTGGCAGTAATAATTGCAGTATTGATACTGTTATATTTTGAAAGTTGATTTCATATTCCAGAACTCAAAACTTGAAAAGGAGAAGAGGAGAAACACTGGCAACCAAAAACCATAGATGACCCTAAAATATGGCTTTTAGAACCAGACTGGAGACATAGACTCGGCCATCATGACAAGGTCCGCAGCTCTTTCCACCTGCATTGTGGCCTCTGTCAGCAGCCCAGAGGAGGGCTGACTGCTGAGCCATTGGCAGAACATTAAGAAAGGCCTGCATTTATTCTGCTCCTTTATCTTCAAAGCTGCCCCAGCCATACTTTGTGAGTGCCCAGCTACAATTCACTGGAAAACAGGAACTTAAGCCACAGTGGCTCTGGAACCAGCTTGAGAAAGGATGGGAAACTGTGGAGAGCACTCAGGAAACCACAAACCACCCTCGGCTGAGAATAAGAAGACATTTGGGAGCCTTTCCAGAGTGGCAGAGAAACTTCTTCCCCAAAGGCCCAAAGGAATGGGGAAATCTCACAGGTGTCCCCAGTAGACAAGTATTCCCAACTGAAGGGACTACAGGTGACAGGTGATGCCCACACTTTGGTAAACTCTCCTTCTCCCTGTGGCTGTTGCCTCCCTGCCATATAACAGGGCCTGGAAGGATGGGAAGGGGTACTTACCAAAACACAAGAGGAAGAATGGTCTCATCTTCAGCCAATGGGGTGATCCCCAGAAAGGACCTTTCCTAGGACACAGCAAAGCAAACTGGGTACAACAGTGCAAACCCCTAGAGCACACTAGCCCTTTTTCTTTTCTGTTTCTAGACTCAAGTATTTTTCAGAAGTCTTTACCTAGGGTCCTGATCTAGGACACTTGGAGCAGCAGATACATTTGTAGCTTGGAAAATGCTGGAGCTCTAGACCCTTGTCTCAAGTGGCATGTGACTCACAGGGTGCCCTGGGAAAATCCCATCCCTTCCCAGACTCCAGCTTCCTCCTCTAAAATGGATGGGAAGGAGTGTGGACCCTGCCCTACCCCACACAGCCGTAAGGACAACGTGGGGAGCAGGAAAAGGCTGGACCCTTTGCAGGAGAAAAGCTGTAGAAAGGGCCAAGACCTAGTTCCAGCCCCAAGAGAGAGGGCTGGCTTTTCTCAGGGCCTAGACCAGCAGCCTCAACCCAGCCCCGCCCAAAGTGAATGAGTCAGAGTGGCTGACGGCCTGGAGGCAAACCTTCTCCTGTCACGGGCATGGCCTCCAATACCATTCAGGGCCACTTTGAGTTTGAGGCTCTGTGCCCACAATTCTGGGATGCAACAGGGAGAGATGTATGGCTGTCTTTAACAAGTGAGTGAGGGTTTCTTCTGAAAGGGAAGCAACCCAAAATGTCTTCAATGATGGGCTGGGGCTCGACAAGAGGGGTGGGGCTGGGAGGCCACAAAGCAGGGATTCTGAAGGAGGCTGGGGAAGGATGCTCGAAAGCCACCGTGGGGTCCCAGAGGCAGGCCTGCCTTGTGGAAACATGCCCCACCCTTGCTCATGCAGTGACCCTTCTGCCTTGAATTGGATGTTCACTCTGTTCCAATGACAGCCACAAACTCTTTTGGCTGGGGTGGAGGGCTGGGGGCTTGGCAAGGCAGGGGCGGGGGGGGAAATTGAGGACATTTCTGGCATCTTTAAATTATAGATCCTAATGCTTCAAAATCATTCCTTCCAATCCCTCTCCTAAAAGAGTCATGGGCCCAGGGAGGGAACATGTGGCCTGGGGTCCCACAGCTAACGATGGCCTAAGAGAGACCCATCTTCTGACTTTCATCCAGTGCTTTCTCAGCTTTCCCACCCCTGACTGAAAATCCCCCTGCAAGTAGGCATTCTGAGCCAGGCCAGCCCACCCTTCTCACTTCTCTTTTGTGCTCAACCCCGGATCT
|
GGGAGTCTCTATGCCTTTAGTATCTATCTTCATTGCTGGAACCCATGGCCTCTGCAAAGGGTAGGCATGTAGTAGTGAGGGAAAGAGAAATGAAACAAGACAGAGAGGTGGAAGATGGGGGAGAGATGCTGATTGTCAGCAGTCGGCTCATTGCCAAAGAATGTTAGGGAAAAGGAGGGACCCTAAAGACCATCTCATCTAATACTCACTTACAGAAAAGGACAGCGAGGCTTACACAGGGGTAATCTCTTGCCCAAGGTCACACCTCAAGTCAGTGGCAGACCTGAAACTACACACTACATGAAAGATACTCCCTGCTATCCTCTATTCTTTCCAAAAGGCTAGATAAATTTATTCCCCCTTAGAAAAAAAAGAAGAAACAGCCAGTGCTTCTCAGCTTTCACAGCAGAAAAATAGCTGAGATTTATCCATCCCCAGGGTTGCAAAAGTCTAGACTCTGTTTTATAAGCACCCTGTTTTGCTCTCAAGGGGCTACTTAGGAGCAGAGAAGACAGCTGGCTTCCTGGGGCATCAGAGAGGCAGAGGGCAGGCCAGTGTTAAGCCAAAAGCCCCAGGCCTGGAGGAGGAGAAACTTTTCAGACAGGACTGGGATCAAGGGTACATCCCAACATAGGGGTCTCTGACCTCTCCTTGCCTCCCCTCCCAAAATGCAAGTCAGCCTGAGAAAGGAAATCGGCAGAGGTCTCCCTGAAATTTTTAGATATGGGCTCATAATTTGGAGGTTATGGGTGGAGGGAACAGCCAAAATCACTCTGTTGCCTAAAAAAAAAAATTTTTTTAATTTTTATTTTTTTAAAAATTCAATACTCAATACTGCCAGGTCCCCTGATGCTCATGGAGTAATCTAGACCCACAGGGAGTCCTGGCTAGGGCTGGCCATCTTACCCAACCCTGTCAAATGAGCTTCCCCACATCCAAGTGGGTGAGATGCAAAAACCACAGCCATCTCTGCTCAGCAACTCCAGTCATTTCCCTATACCATCTGTGCTAAAATAGCCAAGAGAACACAGGGACTAGAAGGGCAGTGAGGCCCAGAGGCCATATCAGATACCACCTTCCACAGCCCAGAAGACAAGGGCAGCCTGGAAAGGGGACAGATAACCCCGGTCTCTTTCCCCAAAAGGCTACAGCAACTCGGGACAAATCACTCCCTTATCCATTCCCTTGTTCAAGCAAAATGGCTAAATGAGGCAGCTGGTAGACAAGAAAACACTGAGTGATTTCAACTTTGGTAAAGAAAGATTCCCCCCTGTTGAGGGCAAACAAAAAGAAAACCAAAGTTCCTATAAAAAAAGACCCAGAGACAAATTAGAAGAAAAGTTTGTAAAAGCCATGACTAACAGGCAATGTTAGTCATAGCTCAAAGCATCGTGTTTCTGGATTTGATCCAACTTACATCTGAGCCTCTGACCCTGCTGGATAAGCTCAAGTCACTTCCTCATCTATCTCACTGACCATGGCACAGCTCAGTTCCTGCCATGGCAAGAACACAGTTCGGCCCACACATCCCAGCACCAAATAACACATGAGGCTCCATACACATAAACGGCCAGTGTTTGGCCTATTTGCCTATTCCCAAGACTTGAAAGACTATCCTGCCCATGCCCAAGGACTGAGAAAAGACTCCGTGTCATCTCAGAGAGATAAGAGAGAAATGAGCTATTTAGTTAATTCTGAGTACATTTCCTCTTGCCCAACCAACAGGTAAATTCCTTAGAGGCAAGGATCTGGCCTTATACTTTTACTGCACTCCCCAGTCCGTGTAGTACACAGGGCTTGGCCTACACCAAGTACATTCTAAGTATTCAGTGGACAAATGGCAGCTCACACACCCCTCCCATCCCGCCTTCCTCCAGTCCTGGGAAGTAGGGCCTACCTCGCCATACTGGGTGCAGTAGGTCTCAGGCTTGGTCAGTCCACAGGTAGATGAAGCTCGGAGAAACCGGGTCCTCCCAACAAGCAGGTCCCCAACAGGTGGATAGCAGGCCCCACGGGAGCAGGCTTGTTGGGCATGCAGGAGGCCAGGCAGGGGCTGAAATCACAGGGATGTGTGATGGAGCAGTCCAGAAAAAAAGGGACCTCACTGGCCACCCCAGTATCTTTCAGGGAAGCTGACATTAGCAAGATTATATCCTTTCCCTCACTCAAGCTTCCACTCGCTGCTGGCAGTAATAATTGCAGTATTGATACTGTTATATTTTGAAAGTTGATTTCATATTCCAGAACTCAAAACTTGAAAAGGAGAAGAGGAGAAACACTGGCAACCAAAAACCATAGATGACCCTAAAATATGGCTTTTAGAACCAGACTGGAGACATAGACTCGGCCATCATGACAAGGTCCGCAGCTCTTTCCACCTGCATTGTGGCCTCTGTCAGCAGCCCAGAGGAGGGCTGACTGCTGAGCCATTGGCAGAACATTAAGAAAGGCCTGCATTTATTCTGCTCCTTTATCTTCAAAGCTGCCCCAGCCATACTTTGTGAGTGCCCAGCTACAATTCACTGGAAAACAGGAACTTAAGCCACAGTGGCTCTGGAACCAGCTTGAGAAAGGATGGGAAACTGTGGAGAGCACTCAGGAAACCACAAACCACCCTCGGCTGAGAATAAGAAGACATTTGGGAGCCTTTCCAGAGTGGCAGAGAAACTTCTTCCCCAAAGGCCCAAAGGAATGGGGAAATCTCACAGGTGTCCCCAGTAGACAAGTATTCCCAACTGAAGGGACTACAGGTGACAGGTGATGCCCACACTTTGGTAAACTCTCCTTCTCCCTGTGGCTGTTGCCTCCCTGCCATATAACAGGGCCTGGAAGGATGGGAAGGGGTACTTACCAAAACACAAGAGGAAGAATGGTCTCATCTTCAGCCAATGGGGTGATCCCCAGAAAGGACCTTTCCTAGGACACAGCAAAGCAAACTGGGTACAACAGTGCAAACCCCTAGAGCACACTAGCCCTTTTTCTTTTCTGTTTCTAGACTCAAGTATTTTTCAGAAGTCTTTACCTAGGGTCCTGATCTAGGACACTTGGAGCAGCAGATACATTTGTAGCTTGGAAAATGCTGGAGCTCTAGACCCTTGTCTCAAGTGGCATGTGACTCACAGGGTGCCCTGGGAAAATCCCATCCCTTCCCAGACTCCAGCTTCCTCCTCTAAAATGGATGGGAAGGAGTGTGGACCCTGCCCTACCCCACACAGCCGTAAGGACAACGTGGGGAGCAGGAAAAGGCTGGACCCTTTGCAGGAGAAAAGCTGTAGAAAGGGCCAAGACCTAGTTCCAGCCCCAAGAGAGAGGGCTGGCTTTTCTCAGGGCCTAGACCAGCAGCCTCAACCCAGCCCCGCCCAAAGTGAATGAGTCAGAGTGGCTGACGGCCTGGAGGCAAACCTTCTCCTGTCACGGGCATGGCCTCCAATACCATTCAGGGCCACTTTGAGTTTGAGGCTCTGTGCCCACAATTCTGGGATGCAACAGGGAGAGATGTATGGCTGTCTTTAACAAGTGAGTGAGGGTTTCTTCTGAAAGGGAAGCAACCCAAAATGTCTTCAATGATGGGCTGGGGCTCGACAAGAGGGGTGGGGCTGGGAGGCCACAAAGCAGGGATTCTGAAGGAGGCTGGGGAAGGATGCTCGAAAGCCACCGTGGGGTCCCAGAGGCAGGCCTGCCTTGTGGAAACATGCCCCACCCTTGCTCATGCAGTGACCCTTCTGCCTTGAATTGGATGTTCACTCTGTTCCAATGACAGCCACAAACTCTTTTGGCTGGGGTGGAGGGCTGGGGGCTTGGCAAGGCAGGGGCGGGGGGGGAAATTGAGGACATTTCTGGCATCTTTAAATTATAGATCCTAATGCTTCAAAATCATTCCTTCCAATCCCTCTCCTAAAAGAGTCATGGGCCCAGGGAGGGAACATGTGGCCTGGGGTCCCACAGCTAACGATGGCCTAAGAGAGACCCATCTTCTGACTTTCATCCAGTGCTTTCTCAGCTTTCCCACCCCTGACTGAAAATCCCCCTGCAAGTAGGCATTCTGAGCCAGGCCAGCCCACCCTTCTCACTTCTCTTTTGTGCTCAACCCCGGATC
|
pathogenic
| 21,326
|
The mutation in gene IRF6 (interferon regulatory factor 6) at chromosome 1, position 209801280—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['IRF6-related_condition', 'Orofacial_cleft_6,_susceptibility_to', 'Popliteal_pterygium_syndrome', 'Van_der_Woude_syndrome']
|
GTAGAATTTGAGGCCAGGTCTTCCAGTTCTTGATCAGAAAGGGCAGTATAATGGGGGGTGGGATGCAGACAGAAAGTCATGGGTTCAAATCCTACCCCCACCACTTACTGGCTGTGTGACTTTGGCAAGTTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCATGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAA
|
GTAGAATTTGAGGCCAGGTCTTCCAGTTCTTGATCAGAAAGGGCAGTATAATGGGGGGTGGGATGCAGACAGAAAGTCATGGGTTCAAATCCTACCCCCACCACTTACTGGCTGTGTGACTTTGGCAAGTTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGGCCAGCCACTGTCAGACACTTGAACAGCAAATCCAGTTTCAGACCATGGCCACAAGAGGCCAAATGGGCCAAGATGGGCCCGTGCCCTTCTCAATGCCAACTCCAATAATTGGTGCTGGTTTATAGGTACTAACCTTATCAACTTTTATATTGTTATTTAAAATCTAAATTAAGATTTAGATTTTCTAAATACCTTCTAAGTACCTTCAGGTCAATATTCTCTCTGCCTGTCCTCTCTACACCTGACATAACTGAGTTGGGTGGGAAACATCCTAAGGATGGCTTTCTTTTGAACCCTGCGCTTACATTTTCTGCCCTTTCCCAACCCAATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCATGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAN
|
pathogenic
| 21,372
|
Determine if the mutation at chromosome 1, position 209802060 in gene IRF6 (interferon regulatory factor 6) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
benign
|
ATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCATGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCAGACATTAAAATCCAACTCTTGACTGATAGTGGACTGGAAGAAAAGTCCAAAAGGACTTATTGTAGTTGATCCAAATCCCACCATGCAAAAATTAAGGCAATCAGGCCAAGACCAGGAGCTGCACCTGATGATGGGAAAGGAGAAGCAGCCACCCACAGAAATCAGTGATTAAGATCTAGAGCCCTGGGTTCTCAGTGTTCTCCTAAGATGGGACTACACAAGAGCAGCCTTGCCTCAGCCCCATGGAAGGAGCCCCAGCCTGCCCTCCTCCAAGCCCATGCCCTGCCTCTCTCACTGTAAACCCTCTCCACCTTCTGAAAGTCAGCCAAGATCTCCCCCACTCACCACCCAGTAACTACAAGTCTAAAAACAGGCAGAGATGGAACAATTGAAAACCCAAATGGCCAAGACAGAAACATTCATTACGTCACAACCACAGGCTGCAATATTAAGTAGCCATTAACAACAGGTGTCAGAATTTGTATTATACTCAAGGAAATGTTTACAATATGAAGTTGTGGGGGCAGGGGGAAACAGCATACAACTTGACTGTGTAGCACTATCTCCATCTTGTAACACAGCATATACTTGCATACATGTGCACATACACACAGAACTGAAAAAAGGAAATAAATACAACAATGCAACAAAATATTTGTAATGGTTATCTAGTGATGCAACTATGGGTGCTTTTTACATTCTCCCATATACATTATATATGATTCATATTTTCCTACAATGATATGTTTCAATTTATAA
|
ATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTTCAGTTAAATAAAATGACTGTCATATCAGTGCTATTTCTTATTTTTAAAACCATTTAAAAAATTAAAACTTGTAATTAAATCACCTTTGATTTTTAAGCCCCAGTTATAGATGGGGCGAAATATTTTAACTCAAAAGAAAAGCTTGCCAGGTGCAGTGGCTTATGCCTGTAATCTGAACACTCTGGGAGGCTAAGGAGGGAGGATCACTTGACCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAGAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGTGCTTATAGTTCCAGCTACGTGGGAGGTTGAGGCGGGAGGATCGCTTGAGCCTAGGAGGTCAGGGCTGCAGTGAGCTATGATCATGCCACTTGCACTCCAGCCTGGTTGACAGAGCAAGACCATATCCCACAAAAAAAGAAAAAGAAAGAAAAACTTGCTGAGAGCCCTCTATACCAATCACATAGGCTATACTGCGTGCCTGCTAACACCTGATAGTTCTGTCCTGGTCTGAGTATCCATTCCCAGGCCCAAGCAACTCTCTGCATAGCAAGAGCTCTGAGTTATTGAGGAGGAAGAGTCAACTGCTGACCCTCGCTAGCTTTTGAAACAAACACATCACTACAATCACTAATGAGAGTTTTAGCCAACCCCAGCTGGTATCCTTTGGGATGTGAGTGAGTACCTTCAATGAGTGGGAAAGAATAAACGGCTTCAACCATTGCAGACATGCCCCCAAAAGAGGAATTACTATGCCTGCTGAGTTTGGGCACCCCCATCATAAGCATTCTCTCTGTTTCACCAGAGTTTTAGATCTAGTGTATTCCCCATGCCAAAAAAAAAAAAAAAAAAAAATCCAGAAAGGTCTGATGGTAGAAGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTATGCCGGGTGGCATGTTTCCAGGGAATCTGGAAGCGTTTAGAGTCCCTGTGTAGCCAGATGAGCCCAGGGTAGAGGCCACTATCCACCTGGGCCACCAGCCAGGGCTTTAGCCGGACTCTGCGGGGGTGGAGGGCCATGATCTGGGGGGGTCAGAGGGAGAAATGGGAAGAGCAGAAGAATTAGGCCAGCCACTGGGAACCCTTCCCAGCCACCTTTCCCATCTACTAGAGCTACAGTTTCACTAGATTACAGCAAAGAAACTAAATATGGGAATAAGCTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGTCCTTTTTATTCTGATTCCAAAGCCATTTACACTTCATGCTCTAGCCAAATCAGACTTATCAGCTAAGTAGATCACATTTCTTCTATTTAAATCCTGAAGCAGAAAAATAAAAAGGTGATGTCATCCTGCTGGAACACAGTCCTTCCTGAAGCACCAAGGGCTTTGGAAGAGAAGGAAAATTGCTCTTTTCAATCTCATCTCAGGAGAGGGAAGAAAAAAGTTATGGAAACAGCAACAACTATATAAGTGAGAAGGTGACACATGTTCTCTTTTTAAACAAGACAACTAAAGGTGAATGGGAATATTTTAGAAATAAATGACACCACCATGATGAGGGAGAAGTAGATAAGGGGTAGATCCTGGACTCCAGAGTCCTCACTTACATGGAAGAGCAGGCAGTGTGTCCACAGGGATCTGAAGAGTCGGCTTGTCTTTCCCTTGACCGCTCAAAGATTCTGTATGGAGAAAAGGAGGGGGTCTCAGCTGGCTATCCATACAACAATCCAGTGTCTGGGAGAAGGCTTGGGAACACTGGCGACAAAGGCTGAGAACACGTCTCCACTACTGAGTCTGGTAAAGCTCAGAAGCCCTAGAATAACCAAATACTAAAGTACTAAGAGTACTTAGAGTACTAAAAGCAGTCATGAGACAAGCTTTGCATGGCTAGGACAGCCTCCTCCCTTGGGTCTGTTTATCTCCCAGTGAAGGCTGGAGTGAACCAATTGGTTGCAGGAGCCAGCATGGGTAAAGTCTGCAATTGATTCTTGTAAAAATACATGGGCATAGCAGATAACATTCAAGAGCAGCTGGCACTCACAGCAGAAAACAAAAGCCTTCCCAGATTGGGTGACTGATAAAAAAACAGTCACTGGAGAATTGTTTGTCTGAGATGTTGTGTTTGGATTTTTTGGTGTTCTTATTTTGTTTTTACTTAAGATGAGAATGAGATGCCTGGAAAAAGAACACTCATTCAACAAATATTTGTTCATCAGCTACTGTGTGCCAAGCACGGTGTTAGTTACTAAACACTGACGCTCCATGTTCCTTCTTGAGAAACTCCACACTGGAACTTCTCAAGCCCCACAATGGCCTGAGAAGGAGGGGAAGATAAATAGGTCACCTTCATACCCAGAAAGATCCCTACCTGGACCACAGTTCTGAAACCAAACAACCTTACAGCAAAGCAGCTAAATATGGGAATAAACTGTGCCAGGTGGGAAAGAAAAGAGGTTAAAAGGGTCAGCTGAAGGCTCCTACTCAGAAGAGCTTAGCTGACGGGGTGGCCCATAACACCACTTCTCTCCCCAGCCAGACTCCCAACAAATGTGAAAAACCCAAACCCAACTCAGCGTCTGGCACTTTAAGAGCAAGGCAAGACCTGCTCTCACCTGAGCTTTCTGACCCAATTACCAAGTCCTGCAACTGAAACCTTCCCCCTGGGAGCATAGTGGGTAGGTCAGGTTGGCACGCAGTGTTCAAGTACCCCCATGTAGTTGGCCTTGAATTACGGTGTTTTGTAGGGCAGCATGTGAAACCATCAAACCATGGAGTGCATTATAAGCCTTATAAGGAGGAGGGGATGCATATTCTCTCAACGGCTAGTTCTACCTTCTGCTCCCCAGTCCTATCACTACTGAAAGGGGGATGGAGCAAGAGAAGGAAAAAGAGGATAGGGAAATAGGCACCAAACCAGTCAATCTAGTAAAGAGCTTTTGAGAATTTCCATTGCAATACTGGTAAGTGCTGTGTTTGGGCCTGTCAGACATTAAAATCCAACTCTTGACTGATAGTGGACTGGAAGAAAAGTCCAAAAGGACTTATTGTAGTTGATCCAAATCCCACCATGCAAAAATTAAGGCAATCAGGCCAAGACCAGGAGCTGCACCTGATGATGGGAAAGGAGAAGCAGCCACCCACAGAAATCAGTGATTAAGATCTAGAGCCCTGGGTTCTCAGTGTTCTCCTAAGATGGGACTACACAAGAGCAGCCTTGCCTCAGCCCCATGGAAGGAGCCCCAGCCTGCCCTCCTCCAAGCCCATGCCCTGCCTCTCTCACTGTAAACCCTCTCCACCTTCTGAAAGTCAGCCAAGATCTCCCCCACTCACCACCCAGTAACTACAAGTCTAAAAACAGGCAGAGATGGAACAATTGAAAACCCAAATGGCCAAGACAGAAACATTCATTACGTCACAACCACAGGCTGCAATATTAAGTAGCCATTAACAACAGGTGTCAGAATTTGTATTATACTCAAGGAAATGTTTACAATATGAAGTTGTGGGGGCAGGGGGAAACAGCATACAACTTGACTGTGTAGCACTATCTCCATCTTGTAACACAGCATATACTTGCATACATGTGCACATACACACAGAACTGAAAAAAGGAAATAAATACAACAATGCAACAAAATATTTGTAATGGTTATCTAGTGATGCAACTATGGGTGCTTTTTACATTCTCCCATATACATTATATATGATTCATATTTTCCTACAATGATATGTTTCAATTTATA
|
benign
| 21,378
|
Is the variant located on chromosome 1 at position 210684141, gene KCNH1 (potassium voltage-gated channel subfamily H member 1), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
benign
|
TTCATTCTCTTTCCAGCTCCTGAAGAGAGTACAATCATGATCCTGCAGTCTTTTTCCATTTTCTCTTGAAATCCTACTGACTTTAATAGGAAATAGAGAGACTGGCTTTAAAATAAGGCCCAGCATGGCTCCCAAGTGCCTATAATGACCCCGTGCGGTGAACAAAATACAAAGGTCTGCAGGGCAATCCCAATGAGAATCAAAGTATAAACATAGCACTTGCTACAGTTCTGAGGTTGTGTGTGTCTGTGTGTCTGCTTTGTTAATAAAGCAACTCTGGGCTCATGACCCTTCCTGCCGATGCTCCATACCCTGAGGAATGCCATGGGGACACTTGGGAAGAGGCCAAGAAGGAACAGAAGCAAGGGAGCCTGTGTGTGAGGCCAGCAGCATGGAGCAGGGCCAGAGGCTCAGCCAGGCACTCCAGAGCCCTCCCTGTCAACTGTCCCAGAGGAGCAGGCTATGGGTTGCACCGCAGAGAACCCCTGGATCTTAAGGGCCCCTCTCCAGCTCTTACCCTTGCCTCACCTCCTTTGGGGAAGGAGACCTGAGGATTCCCAGCTTCAAGTGTCTATGGGAGGCATGCACCACACCTGCAGCTGCTTTTCTGGCCTTAACCATGAGACAGAAAGTTTCTGAGCTCTACCCTCCTGTCCCTCAAGCTCTGCTTGTCCCGAGCTAGTTATAAATGACAACTACAGGAAAACATGGTGACGTCAGACACGGGCTGTACAAGGACGGGGATGCCGGGAAGTCCTTGGCCCACTGCAGTCCATGGGGGGTCTTGGCAAAGGAGCCCAGCATAGTATATACATGAGAGGTTCTCGGCACTTTCCCACCAGTCCCCAGATGGCTGCTGCTCTGTTCTGGTAGTTTTAATCTTTTACAAATATCATGGTAGTAAAAAATTAAAAATGAAGGAAAATACCCTTTAGACAGCATGTCCCTTCTTCCAAAATTGTGCAAAGACGGTTCAGATGCAGCTGCCACCTTGCAGGGTAGGGGCACGCTACCCTTCCCATATCTTTTTCCAGATAGAGAAAGAGCACGTCTAAGCCACTGGCCCCACTTTTTCTGTTAGGAAAAGCCTACTTGAAAATTGTTGGTCATGTGGACATATGTGGTAGGGGTGGTGGTGACGGCAGGGTTGGAGGTATCTGTCTCTGACTTTTTTTTTAAATAGACCTCTCAGCTGGCTCCAAAAATGTCTCTCTCTGATTCTGGGGACTGTGGCCTCGATATTTCAAACAACTCCTGAGGAGACTGAGAGGATCTTCTGGAAGTTAATATCCTGAGTATCTCAGAGAGCTGTTTCTCAATATTGGTCATTTTGGCGTTTAAGGCCTTGATGTCCTCCTTCAGCTCGTGCCTCACCTCCAGGACTGTGGCCTGCAGCGTCTGCTCAGGGATGGGGTAGAACGAATGCTTGACCTCTGCCAGGATGGGACTCCGATCCTGGGGACTCCTGGCCTCACCCACGTTGTCCAGGCGCAAGTCGCTCTTGGTGATGCCACTGTCACACGAGTCTGTCTTCTTCAGTGTGGCCTCGCCTGACGCTTTTGTCCTCTCGGGAAGTGTCTCCATCGACTCAGCCTTGGACACCTTGTTCCAGTCCTCACTCTTCCCGCAAGCATCTTTGAAGCGGGCCCAGCTTTTGCGCTTGGCACAATCGCCCCCGCCCCCCTTGGGGCCCAGGCACTCGGACCCTGGCGCCTGTAGCTTTGCGTGGTCTGGCACCCCGGAGGTGGAGGCTGCCTGGAAGGATACGGGCGTGGCAGGACTCTCACGCACGGTGACCACGCTGGCCTTCACGAGGCTGTGGTTGGCGGAGGCATGCTCTGTAAGGACATTGCCCTTCTCCACATCTAGGTCATCCAGGTCCCGGCCCCCTCTCTCAGCTGCCAGCCTGGCCTCTTTCTGCTGTCGGAATCTCTGGAAGAGGCGCCGGACAGGGTGGTCCGGGGGCAAGATCAGGGGGGCCTCATTCTTTCGTTTCATGCGTTCTTCCTCTTCACGTTTCACATCGCTGATCTTCCGGAACACAATCTGGAGAGAGAGAGAGAGAGAATGACATGGCGTGTTAGCCACATGCTGGCTGCAGCAGCCCAGCTCAGCCCTTCTGCCTATCTTGGCCCTCTGCTTCCAGTCCACCTGCCACCAAGAGGCTGGGGCTCACAGCCTACAAGGCCTCATGAGGCTTTTCTCTATGACTGACATCACCCTCCTTTTCTTGACACTGGCTCCCAGCTTTCCAACAGCAGGGAATTGACTCCCTTTGTCATTCCCTTCAAGAGGAACACATCCCATTTTTTCCCCTCTCCACATGCCAGGAGGCTGAAGAATCCAAAGAGCATCTTCCCAGGGGACTGTCCTAGCCTCTGTGCCTGGCCTCCCTTAAATCCATCCTTGTCTGCAATTCAGCAGCATCTGATGAGCCTTTCAAATATCACTTTTCTGGCCCCACTTCAGACCTACTCCATTAGTATCTCTGCACAAAAGTTTGAGCATCTCTGGCCTAAAACCACACTTCAGGGCAAGAAAGTCCCCAGGCAAGGCTACAGCTAAGGTTTCCAATGCCACCCACAGATCTGGACCCTAAGTGAATGTGGTTGGCTGTGAAAAGTAAAAGTCATTCTCACACGGAAGTCCTTGTCTTGGGGAGCTTACAGTAGACTAACATCTGTAAAGTTGAACATAAACTTGTCCTAACAATAATACCCATCACTTGGACAGTGCTTTGCAGGTCACAAGGCACTTTAATGCTACTTCATGTATTCCTTTTGACAGCACTGTAAGGTCACTGGAACAACTGTTATTATCCCCATTTCAGAGATAAGGTAAACCACAGCTCAGGGTGGCTAAATATCACATAACAGGTAAGTTGCCTAGAAGGGACTTGTACCCAAGGTATCAAACCCCAGATCCGTTAGGTGGCCAGCAGGTAATGACTAATGGTGACAATACTTCACGCAGAGGATGGACCATCAGCAAAACAGACTCATGAATTTGGCCCTGAGTGCAGCATAAGCCACAGCTTACAGGGCCTTCCCCTGGGTCAGCATCTGACTATGGGAAAGCCCCAAAATTTCTAGCTTACATTGCATGTGGCAGTTAGACTCTGGGACGTGTTTTGACCCATATCATGTTTGAATTCGTGAGAGGCAACCTGCAATAGGTTGTCTTTTTAGTGTAAATTTCTGATTTGAGGACTAGAGGTATTGAGATTGTGTAGAATTAGAGGAGAGGCCTGCGGTAAGGGAGAACAGCAGCTTTCTCATCATCCAATCTGGAAAACTCTGTGCCCTGGGCAGGCCACTTAGACCCACCCAAAACCTGTCCCAGGGACTTGCCACAGGACCGCCAGTCTTGGGGAGGCACACGTGGTGGCATGCCAGGAGCAGGGGTTTGGGGTCAGAAAGAACTAAGTTTAAGTCCCAGCCCCATTACTTGACTGTGGAACCTCACAGAGGTATCTTAACTTCTGAGTCTCAGCTTCCTCCTTAAAAAGTGAGGAAAATCTCTACTTTTCAGACTTGGTATAAAGCTGATACAAGATGACTTATATGAAATCACTGGCCCACTGGAGATGCTTAAATGGCTCCTGTTGTCCTTGACCTTTCACAGCCCCCAGATGAAGATGACAAGCAACTCACCCTACCTCCTCCAAGAGGCCCTGCCCCATGCTATCACCAGCAGGTTCTCAGGTATGACCAACAAGATGATTGTTTTATAGTGCCCAACACAGAGAAGCCAAATAAACGGTTAATTGCTTGATGCTAGGAATCCATCAGCAAATCGCTGGCAGACTAGAGGCCCACGTCTATGCTCTAACTTCTTGGTTAAAGTTTCTGTCACTGGCTGACTTTACACTGAGGTCACTACACAGGTGGATGGATGGTTAAATCTTCCAGCTATTACCTGGGTTCCAGTATGTGGCTTTCTGACCTCCACTGGGCAGCATTTCTCCCATCCCTGCCTCCTCTGGTCCCCTCCTTAGCTGTACCCCAACTGCCCCTATAGTCTGCCTTGCAGATCCAAGAAATGGGACTCAGGAGAATCCTGTCCACCCTGAAGAGGGCCAGAGAAACCCAACTAA
|
TTCATTCTCTTTCCAGCTCCTGAAGAGAGTACAATCATGATCCTGCAGTCTTTTTCCATTTTCTCTTGAAATCCTACTGACTTTAATAGGAAATAGAGAGACTGGCTTTAAAATAAGGCCCAGCATGGCTCCCAAGTGCCTATAATGACCCCGTGCGGTGAACAAAATACAAAGGTCTGCAGGGCAATCCCAATGAGAATCAAAGTATAAACATAGCACTTGCTACAGTTCTGAGGTTGTGTGTGTCTGTGTGTCTGCTTTGTTAATAAAGCAACTCTGGGCTCATGACCCTTCCTGCCGATGCTCCATACCCTGAGGAATGCCATGGGGACACTTGGGAAGAGGCCAAGAAGGAACAGAAGCAAGGGAGCCTGTGTGTGAGGCCAGCAGCATGGAGCAGGGCCAGAGGCTCAGCCAGGCACTCCAGAGCCCTCCCTGTCAACTGTCCCAGAGGAGCAGGCTATGGGTTGCACCGCAGAGAACCCCTGGATCTTAAGGGCCCCTCTCCAGCTCTTACCCTTGCCTCACCTCCTTTGGGGAAGGAGACCTGAGGATTCCCAGCTTCAAGTGTCTATGGGAGGCATGCACCACACCTGCAGCTGCTTTTCTGGCCTTAACCATGAGACAGAAAGTTTCTGAGCTCTACCCTCCTGTCCCTCAAGCTCTGCTTGTCCCGAGCTAGTTATAAATGACAACTACAGGAAAACATGGTGACGTCAGACACGGGCTGTACAAGGACGGGGATGCCGGGAAGTCCTTGGCCCACTGCAGTCCATGGGGGGTCTTGGCAAAGGAGCCCAGCATAGTATATACATGAGAGGTTCTCGGCACTTTCCCACCAGTCCCCAGATGGCTGCTGCTCTGTTCTGGTAGTTTTAATCTTTTACAAATATCATGGTAGTAAAAAATTAAAAATGAAGGAAAATACCCTTTAGACAGCATGTCCCTTCTTCCAAAATTGTGCAAAGACGGTTCAGATGCAGCTGCCACCTTGCAGGGTAGGGGCACGCTACCCTTCCCATATCTTTTTCCAGATAGAGAAAGAGCACGTCTAAGCCACTGGCCCCACTTTTTCTGTTAGGAAAAGCCTACTTGAAAATTGTTGGTCATGTGGACATATGTGGTAGGGGTGGTGGTGACGGCAGGGTTGGAGGTATCTGTCTCTGACTTTTTTTTTAAATAGACCTCTCAGCTGGCTCCAAAAATGTCTCTCTCTGATTCTGGGGACTGTGGCCTCGATATTTCAAACAACTCCTGAGGAGACTGAGAGGATCTTCTGGAAGTTAATATCCTGAGTATCTCAGAGAGCTGTTTCTCAATATTGGTCATTTTGGCGTTTAAGGCCTTGATGTCCTCCTTCAGCTCGTGCCTCACCTCCAGGACTGTGGCCTGCAGCGTCTGCTCAGGGATGGGGTAGAACGAATGCTTGACCTCTGCCAGGATGGGACTCCGATCCTGGGGACTCCTGGCCTCACCCACGTTGTCCAGGCGCAAGTCGCTCTTGGTGATGCCACTGTCACACGAGTCTGTCTTCTTCAGTGTGGCCTCGCCTGACGCTTTTGTCCTCTCGGGAAGTGTCTCCATCGACTCAGCCTTGGACACCTTGTTCCAGTCCTCACTCTTCCCGCAAGCATCTTTGAAGCGGGCCCAGCTTTTGCGCTTGGCACAATCGCCCCCGCCCCCCTTGGGGCCCAGGCACTCGGACCCTGGCGCCTGTAGCTTTGCGTGGTCTGGCACCCCGGAGGTGGAGGCTGCCTGGAAGGATACGGGCGTGGCAGGACTCTCACGCACGGTGACCACGCTGGCCTTCACGAGGCTGTGGTTGGCGGAGGCATGCTCTGTAAGGACATTGCCCTTCTCCACATCTAGGTCATCCAGGTCCCGGCCCCCTCTCTCAGCTGCCAGCCTGGCCTCTTTCTGCTGTCGGAATCTCTGGAAGAGGCGCCGGACAGGGTGGTCCGGGGGCAAGATCAGGGGGGCCTCATTCTTTCGTTTCATGCGTTCTTCCTCTTCACGTTTCACATCGCTGATCTTCCGGAACACAATCTGGAGAGAGAGAGAATGACATGGCGTGTTAGCCACATGCTGGCTGCAGCAGCCCAGCTCAGCCCTTCTGCCTATCTTGGCCCTCTGCTTCCAGTCCACCTGCCACCAAGAGGCTGGGGCTCACAGCCTACAAGGCCTCATGAGGCTTTTCTCTATGACTGACATCACCCTCCTTTTCTTGACACTGGCTCCCAGCTTTCCAACAGCAGGGAATTGACTCCCTTTGTCATTCCCTTCAAGAGGAACACATCCCATTTTTTCCCCTCTCCACATGCCAGGAGGCTGAAGAATCCAAAGAGCATCTTCCCAGGGGACTGTCCTAGCCTCTGTGCCTGGCCTCCCTTAAATCCATCCTTGTCTGCAATTCAGCAGCATCTGATGAGCCTTTCAAATATCACTTTTCTGGCCCCACTTCAGACCTACTCCATTAGTATCTCTGCACAAAAGTTTGAGCATCTCTGGCCTAAAACCACACTTCAGGGCAAGAAAGTCCCCAGGCAAGGCTACAGCTAAGGTTTCCAATGCCACCCACAGATCTGGACCCTAAGTGAATGTGGTTGGCTGTGAAAAGTAAAAGTCATTCTCACACGGAAGTCCTTGTCTTGGGGAGCTTACAGTAGACTAACATCTGTAAAGTTGAACATAAACTTGTCCTAACAATAATACCCATCACTTGGACAGTGCTTTGCAGGTCACAAGGCACTTTAATGCTACTTCATGTATTCCTTTTGACAGCACTGTAAGGTCACTGGAACAACTGTTATTATCCCCATTTCAGAGATAAGGTAAACCACAGCTCAGGGTGGCTAAATATCACATAACAGGTAAGTTGCCTAGAAGGGACTTGTACCCAAGGTATCAAACCCCAGATCCGTTAGGTGGCCAGCAGGTAATGACTAATGGTGACAATACTTCACGCAGAGGATGGACCATCAGCAAAACAGACTCATGAATTTGGCCCTGAGTGCAGCATAAGCCACAGCTTACAGGGCCTTCCCCTGGGTCAGCATCTGACTATGGGAAAGCCCCAAAATTTCTAGCTTACATTGCATGTGGCAGTTAGACTCTGGGACGTGTTTTGACCCATATCATGTTTGAATTCGTGAGAGGCAACCTGCAATAGGTTGTCTTTTTAGTGTAAATTTCTGATTTGAGGACTAGAGGTATTGAGATTGTGTAGAATTAGAGGAGAGGCCTGCGGTAAGGGAGAACAGCAGCTTTCTCATCATCCAATCTGGAAAACTCTGTGCCCTGGGCAGGCCACTTAGACCCACCCAAAACCTGTCCCAGGGACTTGCCACAGGACCGCCAGTCTTGGGGAGGCACACGTGGTGGCATGCCAGGAGCAGGGGTTTGGGGTCAGAAAGAACTAAGTTTAAGTCCCAGCCCCATTACTTGACTGTGGAACCTCACAGAGGTATCTTAACTTCTGAGTCTCAGCTTCCTCCTTAAAAAGTGAGGAAAATCTCTACTTTTCAGACTTGGTATAAAGCTGATACAAGATGACTTATATGAAATCACTGGCCCACTGGAGATGCTTAAATGGCTCCTGTTGTCCTTGACCTTTCACAGCCCCCAGATGAAGATGACAAGCAACTCACCCTACCTCCTCCAAGAGGCCCTGCCCCATGCTATCACCAGCAGGTTCTCAGGTATGACCAACAAGATGATTGTTTTATAGTGCCCAACACAGAGAAGCCAAATAAACGGTTAATTGCTTGATGCTAGGAATCCATCAGCAAATCGCTGGCAGACTAGAGGCCCACGTCTATGCTCTAACTTCTTGGTTAAAGTTTCTGTCACTGGCTGACTTTACACTGAGGTCACTACACAGGTGGATGGATGGTTAAATCTTCCAGCTATTACCTGGGTTCCAGTATGTGGCTTTCTGACCTCCACTGGGCAGCATTTCTCCCATCCCTGCCTCCTCTGGTCCCCTCCTTAGCTGTACCCCAACTGCCCCTATAGTCTGCCTTGCAGATCCAAGAAATGGGACTCAGGAGAATCCTGTCCACCCTGAAGAGGGCCAGAGAAACCCAACTAANNNNNN
|
benign
| 21,441
|
Clinically, how would you classify the variant at chromosome 1, position 211107382, gene KCNH1 (potassium voltage-gated channel subfamily H member 1): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
benign
|
TAACAAGGTAAAAGAAATCCCTGTAAAGTTGAATCTTCAAATAAATGAAGTACTATAATTATACCTAGTTTTCATTCATCTTATGTACTTTTTCAGGCTGTAGATTACCAGTAGTTCTAAATTTCCTTTACCTGGATCTCAGATTGCAAATGCTTACAACGCACAAAATAAATAAAAGAGACTCCTGAGCTATCAGGAACATAGCTAGCACAAAGGTATGTTCATTTATAGAGAAGGGATACCTTCGGGTAATTCAATAAGTTGCTAAAAACTGTGCATAAAAGAAAAGTTGGTTAAATTAGCAAGTTATTTTATCTGATTTCCTTAAAGTGTTTGATTATAGCCAATAAGAAAGGTAAGGAAAGGCTGTTCAAGTCACACTAAAAAGTGAAGCTATGTCTCTCAAATTGTTCTGATTATATATGTGCAGGACAGATAGAGATGTAGATGCAGACAAATAGATCTATAAATACCTAAGAGGATAACAGCACACAAAGAATGTAAGATAATTCTATTACATTAAGAATTATAATGTCTAAACCTTTGAACATTTGAGGGAAGAATCTTCAATTTTCTATTTCTCAGTCCCCAAAATCTAAGATTTAAGAAAGTGGAAATATTTTCAAAACATTTGATACTTCCTTCTTATGAGCTCAAACATTTATTTTATTTTAGAAGAGTATTTTATTTTAAAATAATGTAAAGTGACATGGCTGACTTAGTAAGTAAAAATGCAACTTCTGAAAACAGAAGACTATGCTTGGTCAGACAGGCTTCTCCACTCTTCATAGATGAGTTTGTTTCCTGATTTGGCATGAATGATTCCACTTCATGCAAACACCACTGAAGACAGAAGACTGAAGAAGGCAGAGACTGAGAGGAGCCAAAAGGCTATGGTGGGCCAAGACCTTGCCAGGGCACAGCAGGGGAATGTCTGGCAGGATCCAGGCTATATGTCTGGCTCAACACCTGGAAGATGCTTTAAAAGAGCTTTTCTAACACCACGGCCCAAGGACACTGCTTGGTTAGAAACCCTGTAAAAATATACCAGCTTCACTGTCAGTACAATTTGCTAAGAGTTCAGAGAGAGAGAGAGGTAACAGCATGAATTAGAAGGCAACAAAATATTGGTTCTCTCATCTTTTTCTGAAGTAAAAAACTTTGGCTGAGGCCAGGCATGGTGGCTCACGCCTATAATCCAGCACTTTGGGAGGCCAAGGCGGGCAGACCACCTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAATCAGGAGAACTGCTTGAACCCAGGAGACAGAGGCTGCAGTGAGCCAAGATCATGTCACTGTACTCCAGTCTGGGTGACAAAGCAAGACGCCATCTCAAAACAAAAAAGAATTTTGACTGAGGAAAAGCTCTATGAACAAGGCCCTTGTCTCCAACATTGTAGTTACCCTTCTAAAATGCTCATAAATTTTCAAAAATGGTTTTAATCATCTAAAATTTCATTTCACTGTATTTGAGCCTCTAACTTTCACATTTAATTTAATCTAAAATGCCGTAACTTTTGAGTTCACATTTTATAGACAGAATGGTTTTCCTGAGTTCTTCTGGGTTTTCTCCCATCTTAGTGACTGCAAGTTTGTCAGTTGTGGGAACTATGTTTTACATCTGCTTTGATTTTCCCTGTACAGTACATGAACTAGAGATGATATGGCAATAAATTTTCCTGTGAATACACACTAAATGAGGTAAAGGCAATTCCCGAATGCAGTAAACCATTTTCTTTTTCCAAAAGATACCATAATAGATTGTTCACCAGAACAACTCCAAACATAAATACCTGCAGGTGCTGCTTTTTTGCATCACTTCTGCCCTGTGATAGCCAGACAGCTTGCAAAATCCATCATTGCTGTACACAATAGGCCAGTCCACTATCTGAGCATTCCCCAACACAAAATTAGTATCTGTTAAAAAAAAAAAAAAGGGAAAAAAGGGCACATGAGGCAACACATTAGTTGAGATTCAATGAGGACATAAATAATGTCAAGCAATCCAGATATTTCTGATTCCCTCCAAAACATAGACTCTTGAACAGAAATGTCGCCCTGTAAGGAATATAAAACAACATTGTTTTAGAAGTGAATATCTTGAATGCAAGTGCTAACTTAGGTCACTGTACTCCAAAAAGAAGTTAGGAAAGAAAGCATACTTAACCAACCAACCAACAAATCCTGCAGAAACTCAGTGGATTCCCATGAGACATATTTAAGTCCTAATTTTTCATCCCAGTGAAGGTATACCAATATTACAGAGCAAGAGAGAGCCCAAAAGTAATTTATTCTGAGCTCTGTCCAGCATCTTAGCCTTTTCAGTCTTTTGGCCAGAAGCTAAAAATTTGCCTTCTTGACCCTAACTAGGATTTGCCCAACCTAGGAGGGCATCTCAGGAAGGCACAGAAAGGAGGCTAAACACTTCCTCATGGACACACACAGCACCATGGAACCCTCCCCTTGGTGAGGAATAGTAACTAGACTCTCTTAATACTAGAGCTTTGTAGAGGCTGATCAAGATGCTCACACAACAGGACCTTCTTGCTAATTTTGAAATTCTTGCTGATTTTGAAACGCAGCCACAGAGCTGCATTTTGGGGCTCTGTCACAGAGCAGCAGCCTACCACACACTCATAATGCAGGGTTTAGGTAGGCTAGTTGTGTTTGGCCAGCTTAGGGTATTCTCACTACTTCCCACATTTTTGAAAATCAGTCGTCAATACTTTTTATGCTCAGGATATCAACTGTCCTTCCTTTCTTTTCAAGCATTTCAATTAAGCAAATAACATCCAGAACTTAAATGTAATCATTATTTTAGTTTGGCCCTTCCTTTCCACAGAAGACCCACCCACTTCCCCCACCCTCCAAAAACAGAAACAATACAAACAGCCTTCTTTAGTTGTAAACTGGAGAGGGTATTATGTGTGTCTGTGTGTGTGTGTGTGTGTATACACATACTACATAGAGTGAAATAATAGTGATATATTATATCATCATTTAATTGAAAGCATTTACAGTTTTTTCACAATATGGGTAACCATCCCTTCAGATAGGCTTCTCCACCCTTCTTAGATGAGTTTATTCTTGATTTGGCAGGCTTGGGAAAATGATTCCACTTCATGCAGACACCACTGAAGACAAAAGACTTGGAAGAAGACAGGGCCTGAGAGGAGATAAGGGTTGTGGTGAGCCAAGACCTTACAAAGGAGGGCAAGGGAGGAGGAATTACTAAATACAGCAATCTATTCTTGAGAATGCTTTGATCTATTTAAAAGGAACAGAAAATACAACATTTATGATGTGAATCTATAAAGCTACTATTTTTATAAATATGCTTTTAATGAAAATCTACAACCAGTCCTTCCCTCCATCTCTCCCATATATACATAAATTGTTCTTGAGTGCCAACAGGTGCCAAGCACAATGCAAGACCCTGGGGGTCTCCAGATTGATAAGAAATGGTCCCTGCACTCAAGGAACTTAGCAAGACAAATAGATATGTCCACAACTAACTAAAGAAACAGGTAAGAAAACAATGAACTCTGAGAGAGGTAAAGGGCTGCGTCTCAGAGGGGATAATATTTGAACTTGCTCTAGTCTAAAAGGATGAGTAAGATTTATTTAAACTTTTTGAATGCCTAAAAGGTAACTGGCACAGATAATACAAAAACAATAGATATAGAAATTAAAATATGGTCACTGTCTTCATGAACTCAAGAGGGTGTGAGAGGAAGGGAACATTCCAGGCAGAGGATCCAGCATGGGCAAAGGCATGGCAGCATGGAACACAGTGCAGGCTAGGGTAGACAAAGGGCAGCCAGGAAGAGTGGCAGGATGAGTAACTGAAGACTAGACTGGGAAGGATCTGGAATGAATAAAGTCAGAGAGCTTTGATTTTATCGTAGGGGCAGAATAATCCTTCATATTGGTCTTCTCTCCCTGAATAAACTCACATTTCCTGAACTG
|
TAACAAGGTAAAAGAAATCCCTGTAAAGTTGAATCTTCAAATAAATGAAGTACTATAATTATACCTAGTTTTCATTCATCTTATGTACTTTTTCAGGCTGTAGATTACCAGTAGTTCTAAATTTCCTTTACCTGGATCTCAGATTGCAAATGCTTACAACGCACAAAATAAATAAAAGAGACTCCTGAGCTATCAGGAACATAGCTAGCACAAAGGTATGTTCATTTATAGAGAAGGGATACCTTCGGGTAATTCAATAAGTTGCTAAAAACTGTGCATAAAAGAAAAGTTGGTTAAATTAGCAAGTTATTTTATCTGATTTCCTTAAAGTGTTTGATTATAGCCAATAAGAAAGGTAAGGAAAGGCTGTTCAAGTCACACTAAAAAGTGAAGCTATGTCTCTCAAATTGTTCTGATTATATATGTGCAGGACAGATAGAGATGTAGATGCAGACAAATAGATCTATAAATACCTAAGAGGATAACAGCACACAAAGAATGTAAGATAATTCTATTACATTAAGAATTATAATGTCTAAACCTTTGAACATTTGAGGGAAGAATCTTCAATTTTCTATTTCTCAGTCCCCAAAATCTAAGATTTAAGAAAGTGGAAATATTTTCAAAACATTTGATACTTCCTTCTTATGAGCTCAAACATTTATTTTATTTTAGAAGAGTATTTTATTTTAAAATAATGTAAAGTGACATGGCTGACTTAGTAAGTAAAAATGCAACTTCTGAAAACAGAAGACTATGCTTGGTCAGACAGGCTTCTCCACTCTTCATAGATGAGTTTGTTTCCTGATTTGGCATGAATGATTCCACTTCATGCAAACACCACTGAAGACAGAAGACTGAAGAAGGCAGAGACTGAGAGGAGCCAAAAGGCTATGGTGGGCCAAGACCTTGCCAGGGCACAGCAGGGGAATGTCTGGCAGGATCCAGGCTATATGTCTGGCTCAACACCTGGAAGATGCTTTAAAAGAGCTTTTCTAACACCACGGCCCAAGGACACTGCTTGGTTAGAAACCCTGTAAAAATATACCAGCTTCACTGTCAGTACAATTTGCTAAGAGTTCAGAGAGAGAGAGAGGTAACAGCATGAATTAGAAGGCAACAAAATATTGGTTCTCTCATCTTTTTCTGAAGTAAAAAACTTTGGCTGAGGCCAGGCATGGTGGCTCACGCCTATAATCCAGCACTTTGGGAGGCCAAGGCGGGCAGACCACCTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAATCAGGAGAACTGCTTGAACCCAGGAGACAGAGGCTGCAGTGAGCCAAGATCATGTCACTGTACTCCAGTCTGGGTGACAAAGCAAGACGCCATCTCAAAACAAAAAAGAATTTTGACTGAGGAAAAGCTCTATGAACAAGGCCCTTGTCTCCAACATTGTAGTTACCCTTCTAAAATGCTCATAAATTTTCAAAAATGGTTTTAATCATCTAAAATTTCATTTCACTGTATTTGAGCCTCTAACTTTCACATTTAATTTAATCTAAAATGCCGTAACTTTTGAGTTCACATTTTATAGACAGAATGGTTTTCCTGAGTTCTTCTGGGTTTTCTCCCATCTTAGTGACTGCAAGTTTGTCAGTTGTGGGAACTATGTTTTACATCTGCTTTGATTTTCCCTGTACAGTACATGAACTAGAGATGATATGGCAATAAATTTTCCTGTGAATACACACTAAATGAGGTAAAGGCAATTCCCGAATGCAGTAAACCATTTTCTTTTTCCAAAAGATACCATAATAGATTGTTCACCAGAACAACTCCAAACATAAATACCTGCAGGTGCTGCTTTTTTGCATCACTTCTGCCCTGTGATAGCCAGACAGCTTGCAAAATCCATCATTGCTGTACACAATAGGCCAGTCCACTATCTGAGCATTCCCCAACACAAAATTAGTATCTGTTAAAAAAAAAAAAAAAGGGAAAAAAGGGCACATGAGGCAACACATTAGTTGAGATTCAATGAGGACATAAATAATGTCAAGCAATCCAGATATTTCTGATTCCCTCCAAAACATAGACTCTTGAACAGAAATGTCGCCCTGTAAGGAATATAAAACAACATTGTTTTAGAAGTGAATATCTTGAATGCAAGTGCTAACTTAGGTCACTGTACTCCAAAAAGAAGTTAGGAAAGAAAGCATACTTAACCAACCAACCAACAAATCCTGCAGAAACTCAGTGGATTCCCATGAGACATATTTAAGTCCTAATTTTTCATCCCAGTGAAGGTATACCAATATTACAGAGCAAGAGAGAGCCCAAAAGTAATTTATTCTGAGCTCTGTCCAGCATCTTAGCCTTTTCAGTCTTTTGGCCAGAAGCTAAAAATTTGCCTTCTTGACCCTAACTAGGATTTGCCCAACCTAGGAGGGCATCTCAGGAAGGCACAGAAAGGAGGCTAAACACTTCCTCATGGACACACACAGCACCATGGAACCCTCCCCTTGGTGAGGAATAGTAACTAGACTCTCTTAATACTAGAGCTTTGTAGAGGCTGATCAAGATGCTCACACAACAGGACCTTCTTGCTAATTTTGAAATTCTTGCTGATTTTGAAACGCAGCCACAGAGCTGCATTTTGGGGCTCTGTCACAGAGCAGCAGCCTACCACACACTCATAATGCAGGGTTTAGGTAGGCTAGTTGTGTTTGGCCAGCTTAGGGTATTCTCACTACTTCCCACATTTTTGAAAATCAGTCGTCAATACTTTTTATGCTCAGGATATCAACTGTCCTTCCTTTCTTTTCAAGCATTTCAATTAAGCAAATAACATCCAGAACTTAAATGTAATCATTATTTTAGTTTGGCCCTTCCTTTCCACAGAAGACCCACCCACTTCCCCCACCCTCCAAAAACAGAAACAATACAAACAGCCTTCTTTAGTTGTAAACTGGAGAGGGTATTATGTGTGTCTGTGTGTGTGTGTGTGTGTATACACATACTACATAGAGTGAAATAATAGTGATATATTATATCATCATTTAATTGAAAGCATTTACAGTTTTTTCACAATATGGGTAACCATCCCTTCAGATAGGCTTCTCCACCCTTCTTAGATGAGTTTATTCTTGATTTGGCAGGCTTGGGAAAATGATTCCACTTCATGCAGACACCACTGAAGACAAAAGACTTGGAAGAAGACAGGGCCTGAGAGGAGATAAGGGTTGTGGTGAGCCAAGACCTTACAAAGGAGGGCAAGGGAGGAGGAATTACTAAATACAGCAATCTATTCTTGAGAATGCTTTGATCTATTTAAAAGGAACAGAAAATACAACATTTATGATGTGAATCTATAAAGCTACTATTTTTATAAATATGCTTTTAATGAAAATCTACAACCAGTCCTTCCCTCCATCTCTCCCATATATACATAAATTGTTCTTGAGTGCCAACAGGTGCCAAGCACAATGCAAGACCCTGGGGGTCTCCAGATTGATAAGAAATGGTCCCTGCACTCAAGGAACTTAGCAAGACAAATAGATATGTCCACAACTAACTAAAGAAACAGGTAAGAAAACAATGAACTCTGAGAGAGGTAAAGGGCTGCGTCTCAGAGGGGATAATATTTGAACTTGCTCTAGTCTAAAAGGATGAGTAAGATTTATTTAAACTTTTTGAATGCCTAAAAGGTAACTGGCACAGATAATACAAAAACAATAGATATAGAAATTAAAATATGGTCACTGTCTTCATGAACTCAAGAGGGTGTGAGAGGAAGGGAACATTCCAGGCAGAGGATCCAGCATGGGCAAAGGCATGGCAGCATGGAACACAGTGCAGGCTAGGGTAGACAAAGGGCAGCCAGGAAGAGTGGCAGGATGAGTAACTGAAGACTAGACTGGGAAGGATCTGGAATGAATAAAGTCAGAGAGCTTTGATTTTATCGTAGGGGCAGAATAATCCTTCATATTGGTCTTCTCTCCCTGAATAAACTCACATTTCCTGAACT
|
benign
| 21,479
|
A genetic variant at chromosome 1, position 211107382, affecting gene KCNH1 (potassium voltage-gated channel subfamily H member 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
benign
|
TAACAAGGTAAAAGAAATCCCTGTAAAGTTGAATCTTCAAATAAATGAAGTACTATAATTATACCTAGTTTTCATTCATCTTATGTACTTTTTCAGGCTGTAGATTACCAGTAGTTCTAAATTTCCTTTACCTGGATCTCAGATTGCAAATGCTTACAACGCACAAAATAAATAAAAGAGACTCCTGAGCTATCAGGAACATAGCTAGCACAAAGGTATGTTCATTTATAGAGAAGGGATACCTTCGGGTAATTCAATAAGTTGCTAAAAACTGTGCATAAAAGAAAAGTTGGTTAAATTAGCAAGTTATTTTATCTGATTTCCTTAAAGTGTTTGATTATAGCCAATAAGAAAGGTAAGGAAAGGCTGTTCAAGTCACACTAAAAAGTGAAGCTATGTCTCTCAAATTGTTCTGATTATATATGTGCAGGACAGATAGAGATGTAGATGCAGACAAATAGATCTATAAATACCTAAGAGGATAACAGCACACAAAGAATGTAAGATAATTCTATTACATTAAGAATTATAATGTCTAAACCTTTGAACATTTGAGGGAAGAATCTTCAATTTTCTATTTCTCAGTCCCCAAAATCTAAGATTTAAGAAAGTGGAAATATTTTCAAAACATTTGATACTTCCTTCTTATGAGCTCAAACATTTATTTTATTTTAGAAGAGTATTTTATTTTAAAATAATGTAAAGTGACATGGCTGACTTAGTAAGTAAAAATGCAACTTCTGAAAACAGAAGACTATGCTTGGTCAGACAGGCTTCTCCACTCTTCATAGATGAGTTTGTTTCCTGATTTGGCATGAATGATTCCACTTCATGCAAACACCACTGAAGACAGAAGACTGAAGAAGGCAGAGACTGAGAGGAGCCAAAAGGCTATGGTGGGCCAAGACCTTGCCAGGGCACAGCAGGGGAATGTCTGGCAGGATCCAGGCTATATGTCTGGCTCAACACCTGGAAGATGCTTTAAAAGAGCTTTTCTAACACCACGGCCCAAGGACACTGCTTGGTTAGAAACCCTGTAAAAATATACCAGCTTCACTGTCAGTACAATTTGCTAAGAGTTCAGAGAGAGAGAGAGGTAACAGCATGAATTAGAAGGCAACAAAATATTGGTTCTCTCATCTTTTTCTGAAGTAAAAAACTTTGGCTGAGGCCAGGCATGGTGGCTCACGCCTATAATCCAGCACTTTGGGAGGCCAAGGCGGGCAGACCACCTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAATCAGGAGAACTGCTTGAACCCAGGAGACAGAGGCTGCAGTGAGCCAAGATCATGTCACTGTACTCCAGTCTGGGTGACAAAGCAAGACGCCATCTCAAAACAAAAAAGAATTTTGACTGAGGAAAAGCTCTATGAACAAGGCCCTTGTCTCCAACATTGTAGTTACCCTTCTAAAATGCTCATAAATTTTCAAAAATGGTTTTAATCATCTAAAATTTCATTTCACTGTATTTGAGCCTCTAACTTTCACATTTAATTTAATCTAAAATGCCGTAACTTTTGAGTTCACATTTTATAGACAGAATGGTTTTCCTGAGTTCTTCTGGGTTTTCTCCCATCTTAGTGACTGCAAGTTTGTCAGTTGTGGGAACTATGTTTTACATCTGCTTTGATTTTCCCTGTACAGTACATGAACTAGAGATGATATGGCAATAAATTTTCCTGTGAATACACACTAAATGAGGTAAAGGCAATTCCCGAATGCAGTAAACCATTTTCTTTTTCCAAAAGATACCATAATAGATTGTTCACCAGAACAACTCCAAACATAAATACCTGCAGGTGCTGCTTTTTTGCATCACTTCTGCCCTGTGATAGCCAGACAGCTTGCAAAATCCATCATTGCTGTACACAATAGGCCAGTCCACTATCTGAGCATTCCCCAACACAAAATTAGTATCTGTTAAAAAAAAAAAAAAGGGAAAAAAGGGCACATGAGGCAACACATTAGTTGAGATTCAATGAGGACATAAATAATGTCAAGCAATCCAGATATTTCTGATTCCCTCCAAAACATAGACTCTTGAACAGAAATGTCGCCCTGTAAGGAATATAAAACAACATTGTTTTAGAAGTGAATATCTTGAATGCAAGTGCTAACTTAGGTCACTGTACTCCAAAAAGAAGTTAGGAAAGAAAGCATACTTAACCAACCAACCAACAAATCCTGCAGAAACTCAGTGGATTCCCATGAGACATATTTAAGTCCTAATTTTTCATCCCAGTGAAGGTATACCAATATTACAGAGCAAGAGAGAGCCCAAAAGTAATTTATTCTGAGCTCTGTCCAGCATCTTAGCCTTTTCAGTCTTTTGGCCAGAAGCTAAAAATTTGCCTTCTTGACCCTAACTAGGATTTGCCCAACCTAGGAGGGCATCTCAGGAAGGCACAGAAAGGAGGCTAAACACTTCCTCATGGACACACACAGCACCATGGAACCCTCCCCTTGGTGAGGAATAGTAACTAGACTCTCTTAATACTAGAGCTTTGTAGAGGCTGATCAAGATGCTCACACAACAGGACCTTCTTGCTAATTTTGAAATTCTTGCTGATTTTGAAACGCAGCCACAGAGCTGCATTTTGGGGCTCTGTCACAGAGCAGCAGCCTACCACACACTCATAATGCAGGGTTTAGGTAGGCTAGTTGTGTTTGGCCAGCTTAGGGTATTCTCACTACTTCCCACATTTTTGAAAATCAGTCGTCAATACTTTTTATGCTCAGGATATCAACTGTCCTTCCTTTCTTTTCAAGCATTTCAATTAAGCAAATAACATCCAGAACTTAAATGTAATCATTATTTTAGTTTGGCCCTTCCTTTCCACAGAAGACCCACCCACTTCCCCCACCCTCCAAAAACAGAAACAATACAAACAGCCTTCTTTAGTTGTAAACTGGAGAGGGTATTATGTGTGTCTGTGTGTGTGTGTGTGTGTATACACATACTACATAGAGTGAAATAATAGTGATATATTATATCATCATTTAATTGAAAGCATTTACAGTTTTTTCACAATATGGGTAACCATCCCTTCAGATAGGCTTCTCCACCCTTCTTAGATGAGTTTATTCTTGATTTGGCAGGCTTGGGAAAATGATTCCACTTCATGCAGACACCACTGAAGACAAAAGACTTGGAAGAAGACAGGGCCTGAGAGGAGATAAGGGTTGTGGTGAGCCAAGACCTTACAAAGGAGGGCAAGGGAGGAGGAATTACTAAATACAGCAATCTATTCTTGAGAATGCTTTGATCTATTTAAAAGGAACAGAAAATACAACATTTATGATGTGAATCTATAAAGCTACTATTTTTATAAATATGCTTTTAATGAAAATCTACAACCAGTCCTTCCCTCCATCTCTCCCATATATACATAAATTGTTCTTGAGTGCCAACAGGTGCCAAGCACAATGCAAGACCCTGGGGGTCTCCAGATTGATAAGAAATGGTCCCTGCACTCAAGGAACTTAGCAAGACAAATAGATATGTCCACAACTAACTAAAGAAACAGGTAAGAAAACAATGAACTCTGAGAGAGGTAAAGGGCTGCGTCTCAGAGGGGATAATATTTGAACTTGCTCTAGTCTAAAAGGATGAGTAAGATTTATTTAAACTTTTTGAATGCCTAAAAGGTAACTGGCACAGATAATACAAAAACAATAGATATAGAAATTAAAATATGGTCACTGTCTTCATGAACTCAAGAGGGTGTGAGAGGAAGGGAACATTCCAGGCAGAGGATCCAGCATGGGCAAAGGCATGGCAGCATGGAACACAGTGCAGGCTAGGGTAGACAAAGGGCAGCCAGGAAGAGTGGCAGGATGAGTAACTGAAGACTAGACTGGGAAGGATCTGGAATGAATAAAGTCAGAGAGCTTTGATTTTATCGTAGGGGCAGAATAATCCTTCATATTGGTCTTCTCTCCCTGAATAAACTCACATTTCCTGAACTG
|
TAACAAGGTAAAAGAAATCCCTGTAAAGTTGAATCTTCAAATAAATGAAGTACTATAATTATACCTAGTTTTCATTCATCTTATGTACTTTTTCAGGCTGTAGATTACCAGTAGTTCTAAATTTCCTTTACCTGGATCTCAGATTGCAAATGCTTACAACGCACAAAATAAATAAAAGAGACTCCTGAGCTATCAGGAACATAGCTAGCACAAAGGTATGTTCATTTATAGAGAAGGGATACCTTCGGGTAATTCAATAAGTTGCTAAAAACTGTGCATAAAAGAAAAGTTGGTTAAATTAGCAAGTTATTTTATCTGATTTCCTTAAAGTGTTTGATTATAGCCAATAAGAAAGGTAAGGAAAGGCTGTTCAAGTCACACTAAAAAGTGAAGCTATGTCTCTCAAATTGTTCTGATTATATATGTGCAGGACAGATAGAGATGTAGATGCAGACAAATAGATCTATAAATACCTAAGAGGATAACAGCACACAAAGAATGTAAGATAATTCTATTACATTAAGAATTATAATGTCTAAACCTTTGAACATTTGAGGGAAGAATCTTCAATTTTCTATTTCTCAGTCCCCAAAATCTAAGATTTAAGAAAGTGGAAATATTTTCAAAACATTTGATACTTCCTTCTTATGAGCTCAAACATTTATTTTATTTTAGAAGAGTATTTTATTTTAAAATAATGTAAAGTGACATGGCTGACTTAGTAAGTAAAAATGCAACTTCTGAAAACAGAAGACTATGCTTGGTCAGACAGGCTTCTCCACTCTTCATAGATGAGTTTGTTTCCTGATTTGGCATGAATGATTCCACTTCATGCAAACACCACTGAAGACAGAAGACTGAAGAAGGCAGAGACTGAGAGGAGCCAAAAGGCTATGGTGGGCCAAGACCTTGCCAGGGCACAGCAGGGGAATGTCTGGCAGGATCCAGGCTATATGTCTGGCTCAACACCTGGAAGATGCTTTAAAAGAGCTTTTCTAACACCACGGCCCAAGGACACTGCTTGGTTAGAAACCCTGTAAAAATATACCAGCTTCACTGTCAGTACAATTTGCTAAGAGTTCAGAGAGAGAGAGAGGTAACAGCATGAATTAGAAGGCAACAAAATATTGGTTCTCTCATCTTTTTCTGAAGTAAAAAACTTTGGCTGAGGCCAGGCATGGTGGCTCACGCCTATAATCCAGCACTTTGGGAGGCCAAGGCGGGCAGACCACCTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAATCAGGAGAACTGCTTGAACCCAGGAGACAGAGGCTGCAGTGAGCCAAGATCATGTCACTGTACTCCAGTCTGGGTGACAAAGCAAGACGCCATCTCAAAACAAAAAAGAATTTTGACTGAGGAAAAGCTCTATGAACAAGGCCCTTGTCTCCAACATTGTAGTTACCCTTCTAAAATGCTCATAAATTTTCAAAAATGGTTTTAATCATCTAAAATTTCATTTCACTGTATTTGAGCCTCTAACTTTCACATTTAATTTAATCTAAAATGCCGTAACTTTTGAGTTCACATTTTATAGACAGAATGGTTTTCCTGAGTTCTTCTGGGTTTTCTCCCATCTTAGTGACTGCAAGTTTGTCAGTTGTGGGAACTATGTTTTACATCTGCTTTGATTTTCCCTGTACAGTACATGAACTAGAGATGATATGGCAATAAATTTTCCTGTGAATACACACTAAATGAGGTAAAGGCAATTCCCGAATGCAGTAAACCATTTTCTTTTTCCAAAAGATACCATAATAGATTGTTCACCAGAACAACTCCAAACATAAATACCTGCAGGTGCTGCTTTTTTGCATCACTTCTGCCCTGTGATAGCCAGACAGCTTGCAAAATCCATCATTGCTGTACACAATAGGCCAGTCCACTATCTGAGCATTCCCCAACACAAAATTAGTATCTGTTAAAAAAAAAAAAAGGGAAAAAAGGGCACATGAGGCAACACATTAGTTGAGATTCAATGAGGACATAAATAATGTCAAGCAATCCAGATATTTCTGATTCCCTCCAAAACATAGACTCTTGAACAGAAATGTCGCCCTGTAAGGAATATAAAACAACATTGTTTTAGAAGTGAATATCTTGAATGCAAGTGCTAACTTAGGTCACTGTACTCCAAAAAGAAGTTAGGAAAGAAAGCATACTTAACCAACCAACCAACAAATCCTGCAGAAACTCAGTGGATTCCCATGAGACATATTTAAGTCCTAATTTTTCATCCCAGTGAAGGTATACCAATATTACAGAGCAAGAGAGAGCCCAAAAGTAATTTATTCTGAGCTCTGTCCAGCATCTTAGCCTTTTCAGTCTTTTGGCCAGAAGCTAAAAATTTGCCTTCTTGACCCTAACTAGGATTTGCCCAACCTAGGAGGGCATCTCAGGAAGGCACAGAAAGGAGGCTAAACACTTCCTCATGGACACACACAGCACCATGGAACCCTCCCCTTGGTGAGGAATAGTAACTAGACTCTCTTAATACTAGAGCTTTGTAGAGGCTGATCAAGATGCTCACACAACAGGACCTTCTTGCTAATTTTGAAATTCTTGCTGATTTTGAAACGCAGCCACAGAGCTGCATTTTGGGGCTCTGTCACAGAGCAGCAGCCTACCACACACTCATAATGCAGGGTTTAGGTAGGCTAGTTGTGTTTGGCCAGCTTAGGGTATTCTCACTACTTCCCACATTTTTGAAAATCAGTCGTCAATACTTTTTATGCTCAGGATATCAACTGTCCTTCCTTTCTTTTCAAGCATTTCAATTAAGCAAATAACATCCAGAACTTAAATGTAATCATTATTTTAGTTTGGCCCTTCCTTTCCACAGAAGACCCACCCACTTCCCCCACCCTCCAAAAACAGAAACAATACAAACAGCCTTCTTTAGTTGTAAACTGGAGAGGGTATTATGTGTGTCTGTGTGTGTGTGTGTGTGTATACACATACTACATAGAGTGAAATAATAGTGATATATTATATCATCATTTAATTGAAAGCATTTACAGTTTTTTCACAATATGGGTAACCATCCCTTCAGATAGGCTTCTCCACCCTTCTTAGATGAGTTTATTCTTGATTTGGCAGGCTTGGGAAAATGATTCCACTTCATGCAGACACCACTGAAGACAAAAGACTTGGAAGAAGACAGGGCCTGAGAGGAGATAAGGGTTGTGGTGAGCCAAGACCTTACAAAGGAGGGCAAGGGAGGAGGAATTACTAAATACAGCAATCTATTCTTGAGAATGCTTTGATCTATTTAAAAGGAACAGAAAATACAACATTTATGATGTGAATCTATAAAGCTACTATTTTTATAAATATGCTTTTAATGAAAATCTACAACCAGTCCTTCCCTCCATCTCTCCCATATATACATAAATTGTTCTTGAGTGCCAACAGGTGCCAAGCACAATGCAAGACCCTGGGGGTCTCCAGATTGATAAGAAATGGTCCCTGCACTCAAGGAACTTAGCAAGACAAATAGATATGTCCACAACTAACTAAAGAAACAGGTAAGAAAACAATGAACTCTGAGAGAGGTAAAGGGCTGCGTCTCAGAGGGGATAATATTTGAACTTGCTCTAGTCTAAAAGGATGAGTAAGATTTATTTAAACTTTTTGAATGCCTAAAAGGTAACTGGCACAGATAATACAAAAACAATAGATATAGAAATTAAAATATGGTCACTGTCTTCATGAACTCAAGAGGGTGTGAGAGGAAGGGAACATTCCAGGCAGAGGATCCAGCATGGGCAAAGGCATGGCAGCATGGAACACAGTGCAGGCTAGGGTAGACAAAGGGCAGCCAGGAAGAGTGGCAGGATGAGTAACTGAAGACTAGACTGGGAAGGATCTGGAATGAATAAAGTCAGAGAGCTTTGATTTTATCGTAGGGGCAGAATAATCCTTCATATTGGTCTTCTCTCCCTGAATAAACTCACATTTCCTGAACTGN
|
benign
| 21,480
|
Variant at chromosome 1, position 211107395, gene KCNH1 (potassium voltage-gated channel subfamily H member 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
benign
|
GAAATCCCTGTAAAGTTGAATCTTCAAATAAATGAAGTACTATAATTATACCTAGTTTTCATTCATCTTATGTACTTTTTCAGGCTGTAGATTACCAGTAGTTCTAAATTTCCTTTACCTGGATCTCAGATTGCAAATGCTTACAACGCACAAAATAAATAAAAGAGACTCCTGAGCTATCAGGAACATAGCTAGCACAAAGGTATGTTCATTTATAGAGAAGGGATACCTTCGGGTAATTCAATAAGTTGCTAAAAACTGTGCATAAAAGAAAAGTTGGTTAAATTAGCAAGTTATTTTATCTGATTTCCTTAAAGTGTTTGATTATAGCCAATAAGAAAGGTAAGGAAAGGCTGTTCAAGTCACACTAAAAAGTGAAGCTATGTCTCTCAAATTGTTCTGATTATATATGTGCAGGACAGATAGAGATGTAGATGCAGACAAATAGATCTATAAATACCTAAGAGGATAACAGCACACAAAGAATGTAAGATAATTCTATTACATTAAGAATTATAATGTCTAAACCTTTGAACATTTGAGGGAAGAATCTTCAATTTTCTATTTCTCAGTCCCCAAAATCTAAGATTTAAGAAAGTGGAAATATTTTCAAAACATTTGATACTTCCTTCTTATGAGCTCAAACATTTATTTTATTTTAGAAGAGTATTTTATTTTAAAATAATGTAAAGTGACATGGCTGACTTAGTAAGTAAAAATGCAACTTCTGAAAACAGAAGACTATGCTTGGTCAGACAGGCTTCTCCACTCTTCATAGATGAGTTTGTTTCCTGATTTGGCATGAATGATTCCACTTCATGCAAACACCACTGAAGACAGAAGACTGAAGAAGGCAGAGACTGAGAGGAGCCAAAAGGCTATGGTGGGCCAAGACCTTGCCAGGGCACAGCAGGGGAATGTCTGGCAGGATCCAGGCTATATGTCTGGCTCAACACCTGGAAGATGCTTTAAAAGAGCTTTTCTAACACCACGGCCCAAGGACACTGCTTGGTTAGAAACCCTGTAAAAATATACCAGCTTCACTGTCAGTACAATTTGCTAAGAGTTCAGAGAGAGAGAGAGGTAACAGCATGAATTAGAAGGCAACAAAATATTGGTTCTCTCATCTTTTTCTGAAGTAAAAAACTTTGGCTGAGGCCAGGCATGGTGGCTCACGCCTATAATCCAGCACTTTGGGAGGCCAAGGCGGGCAGACCACCTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAATCAGGAGAACTGCTTGAACCCAGGAGACAGAGGCTGCAGTGAGCCAAGATCATGTCACTGTACTCCAGTCTGGGTGACAAAGCAAGACGCCATCTCAAAACAAAAAAGAATTTTGACTGAGGAAAAGCTCTATGAACAAGGCCCTTGTCTCCAACATTGTAGTTACCCTTCTAAAATGCTCATAAATTTTCAAAAATGGTTTTAATCATCTAAAATTTCATTTCACTGTATTTGAGCCTCTAACTTTCACATTTAATTTAATCTAAAATGCCGTAACTTTTGAGTTCACATTTTATAGACAGAATGGTTTTCCTGAGTTCTTCTGGGTTTTCTCCCATCTTAGTGACTGCAAGTTTGTCAGTTGTGGGAACTATGTTTTACATCTGCTTTGATTTTCCCTGTACAGTACATGAACTAGAGATGATATGGCAATAAATTTTCCTGTGAATACACACTAAATGAGGTAAAGGCAATTCCCGAATGCAGTAAACCATTTTCTTTTTCCAAAAGATACCATAATAGATTGTTCACCAGAACAACTCCAAACATAAATACCTGCAGGTGCTGCTTTTTTGCATCACTTCTGCCCTGTGATAGCCAGACAGCTTGCAAAATCCATCATTGCTGTACACAATAGGCCAGTCCACTATCTGAGCATTCCCCAACACAAAATTAGTATCTGTTAAAAAAAAAAAAAAGGGAAAAAAGGGCACATGAGGCAACACATTAGTTGAGATTCAATGAGGACATAAATAATGTCAAGCAATCCAGATATTTCTGATTCCCTCCAAAACATAGACTCTTGAACAGAAATGTCGCCCTGTAAGGAATATAAAACAACATTGTTTTAGAAGTGAATATCTTGAATGCAAGTGCTAACTTAGGTCACTGTACTCCAAAAAGAAGTTAGGAAAGAAAGCATACTTAACCAACCAACCAACAAATCCTGCAGAAACTCAGTGGATTCCCATGAGACATATTTAAGTCCTAATTTTTCATCCCAGTGAAGGTATACCAATATTACAGAGCAAGAGAGAGCCCAAAAGTAATTTATTCTGAGCTCTGTCCAGCATCTTAGCCTTTTCAGTCTTTTGGCCAGAAGCTAAAAATTTGCCTTCTTGACCCTAACTAGGATTTGCCCAACCTAGGAGGGCATCTCAGGAAGGCACAGAAAGGAGGCTAAACACTTCCTCATGGACACACACAGCACCATGGAACCCTCCCCTTGGTGAGGAATAGTAACTAGACTCTCTTAATACTAGAGCTTTGTAGAGGCTGATCAAGATGCTCACACAACAGGACCTTCTTGCTAATTTTGAAATTCTTGCTGATTTTGAAACGCAGCCACAGAGCTGCATTTTGGGGCTCTGTCACAGAGCAGCAGCCTACCACACACTCATAATGCAGGGTTTAGGTAGGCTAGTTGTGTTTGGCCAGCTTAGGGTATTCTCACTACTTCCCACATTTTTGAAAATCAGTCGTCAATACTTTTTATGCTCAGGATATCAACTGTCCTTCCTTTCTTTTCAAGCATTTCAATTAAGCAAATAACATCCAGAACTTAAATGTAATCATTATTTTAGTTTGGCCCTTCCTTTCCACAGAAGACCCACCCACTTCCCCCACCCTCCAAAAACAGAAACAATACAAACAGCCTTCTTTAGTTGTAAACTGGAGAGGGTATTATGTGTGTCTGTGTGTGTGTGTGTGTGTATACACATACTACATAGAGTGAAATAATAGTGATATATTATATCATCATTTAATTGAAAGCATTTACAGTTTTTTCACAATATGGGTAACCATCCCTTCAGATAGGCTTCTCCACCCTTCTTAGATGAGTTTATTCTTGATTTGGCAGGCTTGGGAAAATGATTCCACTTCATGCAGACACCACTGAAGACAAAAGACTTGGAAGAAGACAGGGCCTGAGAGGAGATAAGGGTTGTGGTGAGCCAAGACCTTACAAAGGAGGGCAAGGGAGGAGGAATTACTAAATACAGCAATCTATTCTTGAGAATGCTTTGATCTATTTAAAAGGAACAGAAAATACAACATTTATGATGTGAATCTATAAAGCTACTATTTTTATAAATATGCTTTTAATGAAAATCTACAACCAGTCCTTCCCTCCATCTCTCCCATATATACATAAATTGTTCTTGAGTGCCAACAGGTGCCAAGCACAATGCAAGACCCTGGGGGTCTCCAGATTGATAAGAAATGGTCCCTGCACTCAAGGAACTTAGCAAGACAAATAGATATGTCCACAACTAACTAAAGAAACAGGTAAGAAAACAATGAACTCTGAGAGAGGTAAAGGGCTGCGTCTCAGAGGGGATAATATTTGAACTTGCTCTAGTCTAAAAGGATGAGTAAGATTTATTTAAACTTTTTGAATGCCTAAAAGGTAACTGGCACAGATAATACAAAAACAATAGATATAGAAATTAAAATATGGTCACTGTCTTCATGAACTCAAGAGGGTGTGAGAGGAAGGGAACATTCCAGGCAGAGGATCCAGCATGGGCAAAGGCATGGCAGCATGGAACACAGTGCAGGCTAGGGTAGACAAAGGGCAGCCAGGAAGAGTGGCAGGATGAGTAACTGAAGACTAGACTGGGAAGGATCTGGAATGAATAAAGTCAGAGAGCTTTGATTTTATCGTAGGGGCAGAATAATCCTTCATATTGGTCTTCTCTCCCTGAATAAACTCACATTTCCTGAACTGAATAGCTTAGACT
|
GAAATCCCTGTAAAGTTGAATCTTCAAATAAATGAAGTACTATAATTATACCTAGTTTTCATTCATCTTATGTACTTTTTCAGGCTGTAGATTACCAGTAGTTCTAAATTTCCTTTACCTGGATCTCAGATTGCAAATGCTTACAACGCACAAAATAAATAAAAGAGACTCCTGAGCTATCAGGAACATAGCTAGCACAAAGGTATGTTCATTTATAGAGAAGGGATACCTTCGGGTAATTCAATAAGTTGCTAAAAACTGTGCATAAAAGAAAAGTTGGTTAAATTAGCAAGTTATTTTATCTGATTTCCTTAAAGTGTTTGATTATAGCCAATAAGAAAGGTAAGGAAAGGCTGTTCAAGTCACACTAAAAAGTGAAGCTATGTCTCTCAAATTGTTCTGATTATATATGTGCAGGACAGATAGAGATGTAGATGCAGACAAATAGATCTATAAATACCTAAGAGGATAACAGCACACAAAGAATGTAAGATAATTCTATTACATTAAGAATTATAATGTCTAAACCTTTGAACATTTGAGGGAAGAATCTTCAATTTTCTATTTCTCAGTCCCCAAAATCTAAGATTTAAGAAAGTGGAAATATTTTCAAAACATTTGATACTTCCTTCTTATGAGCTCAAACATTTATTTTATTTTAGAAGAGTATTTTATTTTAAAATAATGTAAAGTGACATGGCTGACTTAGTAAGTAAAAATGCAACTTCTGAAAACAGAAGACTATGCTTGGTCAGACAGGCTTCTCCACTCTTCATAGATGAGTTTGTTTCCTGATTTGGCATGAATGATTCCACTTCATGCAAACACCACTGAAGACAGAAGACTGAAGAAGGCAGAGACTGAGAGGAGCCAAAAGGCTATGGTGGGCCAAGACCTTGCCAGGGCACAGCAGGGGAATGTCTGGCAGGATCCAGGCTATATGTCTGGCTCAACACCTGGAAGATGCTTTAAAAGAGCTTTTCTAACACCACGGCCCAAGGACACTGCTTGGTTAGAAACCCTGTAAAAATATACCAGCTTCACTGTCAGTACAATTTGCTAAGAGTTCAGAGAGAGAGAGAGGTAACAGCATGAATTAGAAGGCAACAAAATATTGGTTCTCTCATCTTTTTCTGAAGTAAAAAACTTTGGCTGAGGCCAGGCATGGTGGCTCACGCCTATAATCCAGCACTTTGGGAGGCCAAGGCGGGCAGACCACCTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAATCAGGAGAACTGCTTGAACCCAGGAGACAGAGGCTGCAGTGAGCCAAGATCATGTCACTGTACTCCAGTCTGGGTGACAAAGCAAGACGCCATCTCAAAACAAAAAAGAATTTTGACTGAGGAAAAGCTCTATGAACAAGGCCCTTGTCTCCAACATTGTAGTTACCCTTCTAAAATGCTCATAAATTTTCAAAAATGGTTTTAATCATCTAAAATTTCATTTCACTGTATTTGAGCCTCTAACTTTCACATTTAATTTAATCTAAAATGCCGTAACTTTTGAGTTCACATTTTATAGACAGAATGGTTTTCCTGAGTTCTTCTGGGTTTTCTCCCATCTTAGTGACTGCAAGTTTGTCAGTTGTGGGAACTATGTTTTACATCTGCTTTGATTTTCCCTGTACAGTACATGAACTAGAGATGATATGGCAATAAATTTTCCTGTGAATACACACTAAATGAGGTAAAGGCAATTCCCGAATGCAGTAAACCATTTTCTTTTTCCAAAAGATACCATAATAGATTGTTCACCAGAACAACTCCAAACATAAATACCTGCAGGTGCTGCTTTTTTGCATCACTTCTGCCCTGTGATAGCCAGACAGCTTGCAAAATCCATCATTGCTGTACACAATAGGCCAGTCCACTATCTGAGCATTCCCCAACACAAAATTAGTATCTGTTAAAAAAAAAAAAACAGGGAAAAAAGGGCACATGAGGCAACACATTAGTTGAGATTCAATGAGGACATAAATAATGTCAAGCAATCCAGATATTTCTGATTCCCTCCAAAACATAGACTCTTGAACAGAAATGTCGCCCTGTAAGGAATATAAAACAACATTGTTTTAGAAGTGAATATCTTGAATGCAAGTGCTAACTTAGGTCACTGTACTCCAAAAAGAAGTTAGGAAAGAAAGCATACTTAACCAACCAACCAACAAATCCTGCAGAAACTCAGTGGATTCCCATGAGACATATTTAAGTCCTAATTTTTCATCCCAGTGAAGGTATACCAATATTACAGAGCAAGAGAGAGCCCAAAAGTAATTTATTCTGAGCTCTGTCCAGCATCTTAGCCTTTTCAGTCTTTTGGCCAGAAGCTAAAAATTTGCCTTCTTGACCCTAACTAGGATTTGCCCAACCTAGGAGGGCATCTCAGGAAGGCACAGAAAGGAGGCTAAACACTTCCTCATGGACACACACAGCACCATGGAACCCTCCCCTTGGTGAGGAATAGTAACTAGACTCTCTTAATACTAGAGCTTTGTAGAGGCTGATCAAGATGCTCACACAACAGGACCTTCTTGCTAATTTTGAAATTCTTGCTGATTTTGAAACGCAGCCACAGAGCTGCATTTTGGGGCTCTGTCACAGAGCAGCAGCCTACCACACACTCATAATGCAGGGTTTAGGTAGGCTAGTTGTGTTTGGCCAGCTTAGGGTATTCTCACTACTTCCCACATTTTTGAAAATCAGTCGTCAATACTTTTTATGCTCAGGATATCAACTGTCCTTCCTTTCTTTTCAAGCATTTCAATTAAGCAAATAACATCCAGAACTTAAATGTAATCATTATTTTAGTTTGGCCCTTCCTTTCCACAGAAGACCCACCCACTTCCCCCACCCTCCAAAAACAGAAACAATACAAACAGCCTTCTTTAGTTGTAAACTGGAGAGGGTATTATGTGTGTCTGTGTGTGTGTGTGTGTGTATACACATACTACATAGAGTGAAATAATAGTGATATATTATATCATCATTTAATTGAAAGCATTTACAGTTTTTTCACAATATGGGTAACCATCCCTTCAGATAGGCTTCTCCACCCTTCTTAGATGAGTTTATTCTTGATTTGGCAGGCTTGGGAAAATGATTCCACTTCATGCAGACACCACTGAAGACAAAAGACTTGGAAGAAGACAGGGCCTGAGAGGAGATAAGGGTTGTGGTGAGCCAAGACCTTACAAAGGAGGGCAAGGGAGGAGGAATTACTAAATACAGCAATCTATTCTTGAGAATGCTTTGATCTATTTAAAAGGAACAGAAAATACAACATTTATGATGTGAATCTATAAAGCTACTATTTTTATAAATATGCTTTTAATGAAAATCTACAACCAGTCCTTCCCTCCATCTCTCCCATATATACATAAATTGTTCTTGAGTGCCAACAGGTGCCAAGCACAATGCAAGACCCTGGGGGTCTCCAGATTGATAAGAAATGGTCCCTGCACTCAAGGAACTTAGCAAGACAAATAGATATGTCCACAACTAACTAAAGAAACAGGTAAGAAAACAATGAACTCTGAGAGAGGTAAAGGGCTGCGTCTCAGAGGGGATAATATTTGAACTTGCTCTAGTCTAAAAGGATGAGTAAGATTTATTTAAACTTTTTGAATGCCTAAAAGGTAACTGGCACAGATAATACAAAAACAATAGATATAGAAATTAAAATATGGTCACTGTCTTCATGAACTCAAGAGGGTGTGAGAGGAAGGGAACATTCCAGGCAGAGGATCCAGCATGGGCAAAGGCATGGCAGCATGGAACACAGTGCAGGCTAGGGTAGACAAAGGGCAGCCAGGAAGAGTGGCAGGATGAGTAACTGAAGACTAGACTGGGAAGGATCTGGAATGAATAAAGTCAGAGAGCTTTGATTTTATCGTAGGGGCAGAATAATCCTTCATATTGGTCTTCTCTCCCTGAATAAACTCACATTTCCTGAACTGAATAGCTTAGAC
|
benign
| 21,481
|
Evaluate the clinical significance of the mutation at chromosome 1, position 211133863 in gene KCNH1 (potassium voltage-gated channel subfamily H member 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
benign
|
TCCCAAGATGCTTCATTTTTTTTGATGCTATTCATTTGATTGGTTAATTGAAATCAACCTGCTGAAACTGGTGTTGAAATGACAATGCCCATCCTAAAAATATTCCCAGTGACTTATTCTATTCACATTCTATGATTACAGAGGGAAAGTGGCTCTAATAAGATCAACTAAAATAGACAGTATTCTGCCTTCACAGCTCCAAGATTCTTAAGGTTCCCTTAAAACCCAAGGCATCTTGTGACTTTTACATGTAAGTTTCTCTTCCTGCTCCCTCCACTCAAAAACATACACAGTATACATTAGGTACTGGGTTTCCCCTCTAACTTACAGGGCACTGCCTCTTTACTGAAAAATAGAATTGTCATTGATATTTATGAGAAAGTTGGTGTCACTGACAATGGGATAACCAAATTTGCAAGATTGTCTCCATACCCCTTAATAGTCCAATAAAAATAGCAATAATAGCACAGTAACTCTTATTTTATTTAAAAATAAATGAACAACTCCAGCTTTTTTATGGCAAAACAGTTCATTGTGGCTGTTCACATAGCAATTATCATCCCCTTGCATCCCCAGGTAATGACTGTGACCTTGACCTAAAAGCCACCTTAGTTTGAATAAGGAAGACCTTGAAAGGAAAGGTGACTGACCAGAAACACTCTTAAGAGGCACACAATAAAGAAATGATCATTTCTAAGAAAGTACTTAAATAATACGTGATTATTTGCTATGCTAGTTGATGTGTTTCATTATAAGATAAACTTAAATCACTGTTTAATTAAAGAGTGTTTATTAGTAGCATAAGTCACTTTTCATGCCCTTCCCCTGAATCCCTAACTAAATCCAAACAGAAGCTCATCATTTTACACAGAAGCTCCTTAGACTCTGAAATCGTGATATTTACACATTATTAAAACCCATTTCCTAAGTTAGCTCCTCATGTCTCCCTGGTAGAAGAATGTCATCTGTTTCTGGAAGGGGTGGGGTGGGGGCTCTAGGAGTCTGCAAAGAGCATCTTATGCTTGGCTATCTTTCAATATAGCCATTTGATGAACTCGTGCGCTGCGCCTTCCAACTGCCAGGACTCCTAGTCGCTCTGCAAGTGCTTAGTTGGGGTCTCTCCTCTGTTAAGTCCGAAAGGCGTTTGGAATTCTTCCTTTCCATCCCCGCTCCTAGGACTCTCGCCTCTCAAGGCTTCATGCTACCGTCGATCTTAATGCCACAAGGAAACAGATGAGTGCTGATTGTCAGTTTATTGGGTAATGGATCTATTTATAGGTTTGGTGAGATTGGGAATTTATAGGTGAGCAACACTTAAGGGTGGCATAAAACCGTTGTGGGTTTGGAAGAGGGGAAATATAACAGGTTTGTACCTGTGACCATTTAGTTCGCTCTGCACCTGTGCCCTCCACTTCCCACCTGACGCCAGGAAAACCATCTGCCCCTCACTTCGAAGGTGAGCCTTAACTTCACCTAGAAAGTGGTGGGTGGGTGAAGGGGTGGAATCAGGCCGCCGAGAGCACGTCCCGACACCTCGGACTTTTCAGTTGCAGGGATGGAAGGTGGAGGCAGCCGGATCCTCCCATTCTGAGGCAGCGGGGACCTGGAGTTGCCCGTCTCTACTGCTGGCTCTCCCTGGGGAGAGGCGGCGCCTCTGGGAGCAGCCCGGGAGCCCCAGAGCCTTCGCGGAAGGGTGGGCAGTGCCGATGGGGCGCGCGCTGCCGCTCCGGCTGCAGCCAGCTTTCCATCACTTTTCCCAGTACTTTGCTCAGCAGCTGTCACGCATCCTTGGAGATAAGACCGAGAGGGCGCTAGAAAGGCCCAAAAGGCGTCCCCAGAAGAGCTCTCCTGTTAGGATGGGGACCCATCAGACCCCGCCCCGCCCTGCCCACCTTTCTCTGCCTCGGGGAGGCTGCCCTGGGTGCCCGCGCCGCGGCTCCTTAGCAGAGCTCGCGGGTTCTGCTGCATCTGCTGGCTCCGAGCGGCGAGAGGTTCTGCAATAAAGGCACGGATAAAACGCCCGGGTAATCGAAATCCGAATGCACCTCTTACCATTGGACCGCCGAACAATATTCTCCAGAAACGTGTTTTGAGGGGCCACTAGTCCCCTCCTGCCCCCAGCCATGGTCATCCTCCCAGCAGCTCGGGGTCCGGCGGGCGTCCTGGCGCGGCTTCTTACGACAGCAGGAAACTGGCCTCGGGGCCCGCACGCAGTCCCGGCTCGAAGCGCCCCATGCGCCCGGCGGGGATCCGCAGGCAGGGCTGGCGGCTCCCTCTGGCTGCTACCCTCGCGCCCTCTTCGCGCCTCCCTCCCTGCGGCCCGCCTCGCAGTGCACTCGCGCCGGCCTCGGCTAGCGGCAGCCGCCTCCGGGTGGGCGGAGGGAGCAGCGGCGCCTGGGCCGGCGGCGCCCCCTACCGGGCTCGTGCCCCACCGCCGGCCTGCGGGAGACCAAGCTGGGGGGCTCCCGCAGAGGCAGGGAAGTGGCGGGCGGCCGTGGACCAAGGCTGGGACGGCAGCGCCACCCTCTGGGTTCAGCCGGGAAATGTGTTCAGGATGTGCCATGGGCTGGGTGGAGAGGAGGGCATTGTGAGCAGCTTTCAGGGCGGATTCACCCCCAACAAGTCTTAGGGGAGCGTGCTGATGTAACTCTCTTCCTTTGCTCTGTTTCAGGCCGGGGCCCCCGGGACCTGTGAGGCTCTGGGAACACCTTCTTGCCTTCCTGTAAGGTTAGCCTGACTAGTGAAAGTTGCCCCACCTTGATTCTAGGCCAGTGTTTGAGCAGTAATTAATGAAGTCGTATTGCAATAGTGCAGATTTAGAGTGACTGGCAGATTCAGCTTCAGAAGAGTTGTCTTGGGTTGTTTTTACCGTAGACACAAATGCAGGCTCCTGATGTTTGGTATGATCAGTATCAAACTGCCTGACAAACATCAAAGGGGTGGACTTGTCTCTAAGGGCGAATGCTCAGGAGAGGGGCAGCATTAATTAAGCAACCGTGGCTTTGGCTTGAAGGGTAGTCTGTAGTGCAGAGGATACAGTTAGTTTTTACAGCTGACCCCTGGTATACGGAAGAACCACATACACCCAAGGTTTCTGGACAGGGGCTAAGACAACGGTCGTTTGTTCACTTATTTTGGGGGATTTCGACCCACACATAGTCTGTACCTGCCTTTTTACTATGTATCCCCAGTCGGTGCGGTGGGAGACTAAGCCTATGTCCCACAGGAGAAATGAATGGAGAGTTTACTAGTTTCAGACTGAGTCAACAGTCAACACAAAAATGTAAGAGAAAAAAAAACTAACCCTGAAAATTAATTGTCTGGGTTAGCCATCCTGACATATCCTAATGTATTGCAAAGACATCCTGTCTCAGTTAATTAATTTCAAAAACAGAAGAACTAATTCTTGCCCAGAAATCTCTCAGAGTTGCTGTGAAGATCAAGCAAGAATTATGTATGGGGACAGCACCTTAAATTGTAAAGTGCTGTGCCAAGGTCAGACGTCATTATTGGAGTGACTAAATAAATTGGGCCATTACGAATATCACCCTTTATCTCGTCTTGTGTAGAGACAAAGTAAACAGATTGCTGTTAGCAGAGAGTTGGATAAGACTGTCATAGGATTTGAAATGCAAGTAATGATACACTTTTTCCTTAAGATAGCCTTCTACCCATCGCCTGTTACCTAGTCTAGAACAGTGATTTCTTAAACCCTAGCTCCGTCTAGTGGTTCTTTGTTCTATTACAAATGAGATAACACTGGTTGAAGAGAACTTGATTCTGAAATGTATTTGGTGCTGAGCTGAGCCAGTTTGGTGCCTATCCACTTCATTTGAATAAGTTCATTTAAATAAGGTTTTTAAAGTTGTGTTATCGCACAAACATGCCAAGGGAAGATTTTTCATGACAATATTAAAAACCCATCAAGAAACCTCATAATCCTGCTTGTGAAAGGAAGATAAAGAAAATAATGTGGAGGGGAAAACTATCATAGAGAGTTAATAAAATTTCTAAGGTTTTAATGAGCTCTCATGTTCTGTGGCTTAGATAAAAAAGGAAACAGATGATATTAGTTTGAGATCAGAGATGTTAAAGC
|
TCCCAAGATGCTTCATTTTTTTTGATGCTATTCATTTGATTGGTTAATTGAAATCAACCTGCTGAAACTGGTGTTGAAATGACAATGCCCATCCTAAAAATATTCCCAGTGACTTATTCTATTCACATTCTATGATTACAGAGGGAAAGTGGCTCTAATAAGATCAACTAAAATAGACAGTATTCTGCCTTCACAGCTCCAAGATTCTTAAGGTTCCCTTAAAACCCAAGGCATCTTGTGACTTTTACATGTAAGTTTCTCTTCCTGCTCCCTCCACTCAAAAACATACACAGTATACATTAGGTACTGGGTTTCCCCTCTAACTTACAGGGCACTGCCTCTTTACTGAAAAATAGAATTGTCATTGATATTTATGAGAAAGTTGGTGTCACTGACAATGGGATAACCAAATTTGCAAGATTGTCTCCATACCCCTTAATAGTCCAATAAAAATAGCAATAATAGCACAGTAACTCTTATTTTATTTAAAAATAAATGAACAACTCCAGCTTTTTTATGGCAAAACAGTTCATTGTGGCTGTTCACATAGCAATTATCATCCCCTTGCATCCCCAGGTAATGACTGTGACCTTGACCTAAAAGCCACCTTAGTTTGAATAAGGAAGACCTTGAAAGGAAAGGTGACTGACCAGAAACACTCTTAAGAGGCACACAATAAAGAAATGATCATTTCTAAGAAAGTACTTAAATAATACGTGATTATTTGCTATGCTAGTTGATGTGTTTCATTATAAGATAAACTTAAATCACTGTTTAATTAAAGAGTGTTTATTAGTAGCATAAGTCACTTTTCATGCCCTTCCCCTGAATCCCTAACTAAATCCAAACAGAAGCTCATCATTTTACACAGAAGCTCCTTAGACTCTGAAATCGTGATATTTACACATTATTAAAACCCATTTCCTAAGTTAGCTCCTCATGTCTCCCTGGTAGAAGAATGTCATCTGTTTCTGGAAGGGGTGGGGTGGGGGCTCTAGGAGTCTGCAAAGAGCATCTTATGCTTGGCTATCTTTCAATATAGCCATTTGATGAACTCGTGCGCTGCGCCTTCCAACTGCCAGGACTCCTAGTCGCTCTGCAAGTGCTTAGTTGGGGTCTCTCCTCTGTTAAGTCCGAAAGGCGTTTGGAATTCTTCCTTTCCATCCCCGCTCCTAGGACTCTCGCCTCTCAAGGCTTCATGCTACCGTCGATCTTAATGCCACAAGGAAACAGATGAGTGCTGATTGTCAGTTTATTGGGTAATGGATCTATTTATAGGTTTGGTGAGATTGGGAATTTATAGGTGAGCAACACTTAAGGGTGGCATAAAACCGTTGTGGGTTTGGAAGAGGGGAAATATAACAGGTTTGTACCTGTGACCATTTAGTTCGCTCTGCACCTGTGCCCTCCACTTCCCACCTGACGCCAGGAAAACCATCTGCCCCTCACTTCGAAGGTGAGCCTTAACTTCACCTAGAAAGTGGTGGGTGGGTGAAGGGGTGGAATCAGGCCGCCGAGAGCACGTCCCGACACCTCGGACTTTTCAGTTGCAGGGATGGAAGGTGGAGGCAGCCGGATCCTCCCATTCTGAGGCAGCGGGGACCTGGAGTTGCCCGTCTCTACTGCTGGCTCTCCCTGGGGAGAGGCGGCGCCTCTGGGAGCAGCCCGGGAGCCCCAGAGCCTTCGCGGAAGGGTGGGCAGTGCCGATGGGGCGCGCGCTGCCGCTCCGGCTGCAGCCAGCTTTCCATCACTTTTCCCAGTACTTTGCTCAGCAGCTGTCACGCATCCTTGGAGATAAGACCGAGAGGGCGCTAGAAAGGCCCAAAAGGCGTCCCCAGAAGAGCTCTCCTGTTAGGATGGGGACCCATCAGACCCCGCCCCGCCCTGCCCACCTTTCTCTGCCTCGGGGAGGCTGCCCTGGGTGCCCGCGCCGCGGCTCCTTAGCAGAGCTCGCGGGTTCTGCTGCATCTGCTGGCTCCGAGCGGCGAGAGGTTCTGCAATAAAGGCACGGATAAAACGCCCGGGTAATCGAAATCCGAATGCACCTCTTACCTACCATTGGACCGCCGAACAATATTCTCCAGAAACGTGTTTTGAGGGGCCACTAGTCCCCTCCTGCCCCCAGCCATGGTCATCCTCCCAGCAGCTCGGGGTCCGGCGGGCGTCCTGGCGCGGCTTCTTACGACAGCAGGAAACTGGCCTCGGGGCCCGCACGCAGTCCCGGCTCGAAGCGCCCCATGCGCCCGGCGGGGATCCGCAGGCAGGGCTGGCGGCTCCCTCTGGCTGCTACCCTCGCGCCCTCTTCGCGCCTCCCTCCCTGCGGCCCGCCTCGCAGTGCACTCGCGCCGGCCTCGGCTAGCGGCAGCCGCCTCCGGGTGGGCGGAGGGAGCAGCGGCGCCTGGGCCGGCGGCGCCCCCTACCGGGCTCGTGCCCCACCGCCGGCCTGCGGGAGACCAAGCTGGGGGGCTCCCGCAGAGGCAGGGAAGTGGCGGGCGGCCGTGGACCAAGGCTGGGACGGCAGCGCCACCCTCTGGGTTCAGCCGGGAAATGTGTTCAGGATGTGCCATGGGCTGGGTGGAGAGGAGGGCATTGTGAGCAGCTTTCAGGGCGGATTCACCCCCAACAAGTCTTAGGGGAGCGTGCTGATGTAACTCTCTTCCTTTGCTCTGTTTCAGGCCGGGGCCCCCGGGACCTGTGAGGCTCTGGGAACACCTTCTTGCCTTCCTGTAAGGTTAGCCTGACTAGTGAAAGTTGCCCCACCTTGATTCTAGGCCAGTGTTTGAGCAGTAATTAATGAAGTCGTATTGCAATAGTGCAGATTTAGAGTGACTGGCAGATTCAGCTTCAGAAGAGTTGTCTTGGGTTGTTTTTACCGTAGACACAAATGCAGGCTCCTGATGTTTGGTATGATCAGTATCAAACTGCCTGACAAACATCAAAGGGGTGGACTTGTCTCTAAGGGCGAATGCTCAGGAGAGGGGCAGCATTAATTAAGCAACCGTGGCTTTGGCTTGAAGGGTAGTCTGTAGTGCAGAGGATACAGTTAGTTTTTACAGCTGACCCCTGGTATACGGAAGAACCACATACACCCAAGGTTTCTGGACAGGGGCTAAGACAACGGTCGTTTGTTCACTTATTTTGGGGGATTTCGACCCACACATAGTCTGTACCTGCCTTTTTACTATGTATCCCCAGTCGGTGCGGTGGGAGACTAAGCCTATGTCCCACAGGAGAAATGAATGGAGAGTTTACTAGTTTCAGACTGAGTCAACAGTCAACACAAAAATGTAAGAGAAAAAAAAACTAACCCTGAAAATTAATTGTCTGGGTTAGCCATCCTGACATATCCTAATGTATTGCAAAGACATCCTGTCTCAGTTAATTAATTTCAAAAACAGAAGAACTAATTCTTGCCCAGAAATCTCTCAGAGTTGCTGTGAAGATCAAGCAAGAATTATGTATGGGGACAGCACCTTAAATTGTAAAGTGCTGTGCCAAGGTCAGACGTCATTATTGGAGTGACTAAATAAATTGGGCCATTACGAATATCACCCTTTATCTCGTCTTGTGTAGAGACAAAGTAAACAGATTGCTGTTAGCAGAGAGTTGGATAAGACTGTCATAGGATTTGAAATGCAAGTAATGATACACTTTTTCCTTAAGATAGCCTTCTACCCATCGCCTGTTACCTAGTCTAGAACAGTGATTTCTTAAACCCTAGCTCCGTCTAGTGGTTCTTTGTTCTATTACAAATGAGATAACACTGGTTGAAGAGAACTTGATTCTGAAATGTATTTGGTGCTGAGCTGAGCCAGTTTGGTGCCTATCCACTTCATTTGAATAAGTTCATTTAAATAAGGTTTTTAAAGTTGTGTTATCGCACAAACATGCCAAGGGAAGATTTTTCATGACAATATTAAAAACCCATCAAGAAACCTCATAATCCTGCTTGTGAAAGGAAGATAAAGAAAATAATGTGGAGGGGAAAACTATCATAGAGAGTTAATAAAATTTCTAAGGTTTTAATGAGCTCTCATGTTCTGTGGCTTAGATAAAAAAGGAAACAGATGATATTAGTTTGAGATCAGAGATGTTA
|
benign
| 21,483
|
Chromosome 1, position 211481401, gene RD3 (RD3 regulator of GUCY2D): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Leber_congenital_amaurosis_12']
|
GACATTCACCCACAACAGCGGGTCTGGCACCCCGGGCGTCTAACCCCGAGGGGCTGCCCGTGCATCCTCATGGCCAATTAGTCCACTCTACTCTGCTCCTGAAGCGAATCAGGAACCACCCCACGCTGCTACTGCTTCAACCAATCCTGCGTTCAAATCCCAGCTCTGCCACTTCTGGCCTCAGTTGGCCTCAGCCTCCTCGTCTGTAATCTGAGATGACAGCTGCCTTTGTGTGAGCTATAATGAACTAAGATATGTAAAGATCCTGACACTTACCTAAGGTTGTTGATGACGAAGCATTAAGGGGAGCCCTTTGCCGTGGCAGCCTTCTGGCTAAGCCTCTCCTGTCTCTTCTCCACCCACTGGCCAGCATGATCTTTCTGAAACCTATATCTGATTATGTCACTGCCCCTGTGATATTCCTTCCAGGTGAGCTGTTTGCCATGCACAGGGGTCCCCTGATACTTCCCTGGAAGACCCTGCACATCAGCTGGGAAGAATCACTTGTGGCCCCGACATGTCCCAGCTTCTCCCAAGGCCCTGTGTTTTCCCAAGCTGTTTACTCTGCCTAGGCTATCTTTGCTTAGAGCTCACAAGTTAATGTTAGCAAGTCTATTTAATACCAGGTTTCCTCCACCAGATTGAGAGTCAGGACTTCCCAGCAGTGACATGAGACCGGAAATGAGACAGGACAATCATGACCTGTGTGTACCCAGCCTTCCCCCTCACTTTTGAGGCTTGATTTGCCAGCCCAGATTCCCTTTTCAGCAGCTCCACCCCATGACCCACCCCCGTCCCCAGGTGCTTCTGGAATAGATACACTTTGGAGGCTTCCACAGTACAGAATCAGAGCTGGGGGAGAGTAAGGTTCTCCATCTGGAGGAAGAAAGGGGAGGGATGGTAAAAGCTCTGCAAAAACCAAGGAGTGTGGACGGGGCTGAAGAAGGTGAAAGGGGCTGAAGGAGAGGAGCTTTTGAAGGGAATTTCAAAGAAAAAGGTGTATAATAAATGCATATGTTGGTTAAAGGGATGGGTGAGGGAAGATTTTGGGAGACTAACAGGAGTTTTAAGATGTTTTATTGTGGATTTATATTCCTTTACAAAGAGAAATGTAGACAAAGAACTTGAGTTATTTTGAAATTACTCGATGCTTCCTTGACATCAGCACCAATCCTTCTGAGACAGGACCATGTGGTCACAGCTTCAGTAAGTCAGTAAGGTTACATTTATATTCAAGGAACATTGTTGTACCCAAGCTCTAAATGTGCAGTGCCCCAGGGTTTTGTTTGAACCCTTCCTACACACACACACACACACACACACACACACACTCACCTGTGGTCAGACTAGCATGAAAGCTAACATAAGCTAAGATAATTAAGAATCTGACTTTGGAGAAATGTCTGGAAAACTTCTCCGAGAAGGTAATATTGAAGATAAACTGACAAGAGAAAAGAAGCCAGGTAAGTTAAAATCCAGGACAATAACAATCTGGGCAGGAAGAAGAGAAAACTCAAAAGTATTGTGTTCTCTTGAATCAAAACTCACGCGCCTCCAGGAGCTGCCTCCTGCCTCCCGCTGGACCCCTAACCCTAGTCCAGCGTTTCATGGTCTCTTTCAGACTCCTTTTCCCCTCTTGCTCCTTCTAACAGATAACTAGGTCATCCAGGCTCCCTGACTCTAGTCCTGGTGGCCTCAGGCCCCTGCCACTGCAGCCACCTTTCCTGGAGCCTGCAGCCCAGCAAGGGTCCCCATCCCAGTGCTCACCTGAGGATAGCAGGCCCACAATAGGATGGGTGGATCTTAACGCAGACATCTTCCAGCTGCAACCGCTCAATGGGGCTGAGGTCATAGGTGGACCGGGGTGTGCTGGCCAGCCAGCTGTAGTCCACACCGGTGCAGACCTTTCTGACCGCATTGCTGCGCTCCCGCTGCTGCCTCTCAGCCTCTCGCATCTGCCCCGTCAGCTCCATCATAAGCGTCTCCAGCACCATCTCAGCAGGGCTCCTGGTGGACAGCCGGGATGGGGCCTCGTTCCACCGAAGCCATGAGATGAGAGACATAGCCCCTGGCCCTGCTGAGACAGGACAGATGTGCATCTTTCCTGGGCCCCTCTGTTAGTCAGAGTGGGGAACCTGGGAACCCAAGGGGGAGAGAGGAGAGCTGGGACCCAGGAGAGAAGACCTGCTCTGCCCTAACAGTTGAGTGGCCTCAAGTAGGTGGCTTAATTTCCCTGAGCAATCATTTCTAATTCTGTAAGACAAGATAGGGCTGTTGTGAGAAGCAGTTGTGAATAAACTTTGTACACTGTAAACATCACATAAAAGTAAGAGACTCTTGTGATTATGATCCTTAAAGCATCCCCAGGATTGTGCCCAGAGAAAGGGCCTCCTGAATCCTCACTAACTCCCAACAAAGCTGGAAACACATGGACTATGGCTGAGCACAAGCTTTCCCTATGACTTAAGGGGAACACACACACACACACTCAGAACAGATACATCCTATGTCAGTCTACCAGGAAAACACCCTCAGCTTCTAAATGCCTCCAGCCTATTGACGAAAGACACTTAGAACTCTATGGGGTTGGCCAGCCATGGTGGTTCACACCTGCAATCCCAATACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTTGGGAGATCAAGACAAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGTGGAGGTTGGGGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAAAAAGAGCAAAACTCCGTTTAAAAAAAAAACTGTATGGATTAACATTAACCTGAAAAAAACCAACTTACCCACCATTCATTCATTCAGCATTAATCAAGCACTGTGTACACATCTGTGGAGGGACATAAACACGAAAGGATGATGCCAGGATCCTGCTCTCCAGGAGAGGCAAGATTTGTTGAGTAAACGCTGCAACATCAATGGAGAGAGGGAACTCTGCTGGTGAAGCATAGAGTCAGCACTGATGTGGGAGGGGAAGGTGTGACCCTAGATGGTGAAAAGTGCCAGAGTGGGCTGAGAGGTGAGTGCGGGCTTCAGACACATGGGCTGATGGAGAAGGGGTCCCAGGTGGAGGGAGGATCCAGCCATAGAACAAGGTGAGACAGGTGGAGGTCTGACAGCAGCGAGCCTAACTCATCATGGAGCCCCCACACAGGCCTGCTAAATACAAATTTAGTGAAGGACAGACCGAGTAGATGAATGAACGAATGAATGAATGGGTGAATGAGCTACTCCATGACCTGTCAGATGTGGTCTGTGCTTCTGACAACAGTGAAGGGAAATGACATTCCCGAGCTAAAGCCTGAAGTGGGTCTTCGAGGGGTCTCACTTCATCTTTCTGCACCTTTCTCCCTCCAAGCCGTTCCCCCTTCCATGCACCAATGATCCCATTTCTGCTTAGACCCTCCATACGCAGAGAAAAGAGGTCAGATGAACTCAGTCTCAACAGCATGGTGATGAAGGAGGTGTCACCTCCAGAGGACACATGCATTTTTAGGCCACCCTCCCATCACCCTGCACCCCAGTGCTTAATGCAGAGAAATGAATTGTTAAGGTAAATAATCAGACACAAAGGAGAATATTATGATGGGGTAGCAGCAGCCTTCTGGAAGGCCACAGCTAAATCTCTACTTACCGATGGAGACTTGAATGACCAACTCCTTTAGCAACCAACAGAATTAAGAAATCTGAAAACAGGCCAGGCATGATGGCTCATGCCTGTGATTCCAGCACTTTGGGAGGCCGAGGAGGGCAGCTCACTTGAAGCCAGGAGTTTGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTGGGGAGGCGGAGTGAGCTGAGATGGTGCCACTGCATTCCAGCCTGGGTGACAGAGCGAGACTC
|
GACATTCACCCACAACAGCGGGTCTGGCACCCCGGGCGTCTAACCCCGAGGGGCTGCCCGTGCATCCTCATGGCCAATTAGTCCACTCTACTCTGCTCCTGAAGCGAATCAGGAACCACCCCACGCTGCTACTGCTTCAACCAATCCTGCGTTCAAATCCCAGCTCTGCCACTTCTGGCCTCAGTTGGCCTCAGCCTCCTCGTCTGTAATCTGAGATGACAGCTGCCTTTGTGTGAGCTATAATGAACTAAGATATGTAAAGATCCTGACACTTACCTAAGGTTGTTGATGACGAAGCATTAAGGGGAGCCCTTTGCCGTGGCAGCCTTCTGGCTAAGCCTCTCCTGTCTCTTCTCCACCCACTGGCCAGCATGATCTTTCTGAAACCTATATCTGATTATGTCACTGCCCCTGTGATATTCCTTCCAGGTGAGCTGTTTGCCATGCACAGGGGTCCCCTGATACTTCCCTGGAAGACCCTGCACATCAGCTGGGAAGAATCACTTGTGGCCCCGACATGTCCCAGCTTCTCCCAAGGCCCTGTGTTTTCCCAAGCTGTTTACTCTGCCTAGGCTATCTTTGCTTAGAGCTCACAAGTTAATGTTAGCAAGTCTATTTAATACCAGGTTTCCTCCACCAGATTGAGAGTCAGGACTTCCCAGCAGTGACATGAGACCGGAAATGAGACAGGACAATCATGACCTGTGTGTACCCAGCCTTCCCCCTCACTTTTGAGGCTTGATTTGCCAGCCCAGATTCCCTTTTCAGCAGCTCCACCCCATGACCCACCCCCGTCCCCAGGTGCTTCTGGAATAGATACACTTTGGAGGCTTCCACAGTACAGAATCAGAGCTGGGGGAGAGTAAGGTTCTCCATCTGGAGGAAGAAAGGGGAGGGATGGTAAAAGCTCTGCAAAAACCAAGGAGTGTGGACGGGGCTGAAGAAGGTGAAAGGGGCTGAAGGAGAGGAGCTTTTGAAGGGAATTTCAAAGAAAAAGGTGTATAATAAATGCATATGTTGGTTAAAGGGATGGGTGAGGGAAGATTTTGGGAGACTAACAGGAGTTTTAAGATGTTTTATTGTGGATTTATATTCCTTTACAAAGAGAAATGTAGACAAAGAACTTGAGTTATTTTGAAATTACTCGATGCTTCCTTGACATCAGCACCAATCCTTCTGAGACAGGACCATGTGGTCACAGCTTCAGTAAGTCAGTAAGGTTACATTTATATTCAAGGAACATTGTTGTACCCAAGCTCTAAATGTGCAGTGCCCCAGGGTTTTGTTTGAACCCTTCCTACACACACACACACACACACACACACACACACTCACCTGTGGTCAGACTAGCATGAAAGCTAACATAAGCTAAGATAATTAAGAATCTGACTTTGGAGAAATGTCTGGAAAACTTCTCCGAGAAGGTAATATTGAAGATAAACTGACAAGAGAAAAGAAGCCAGGTAAGTTAAAATCCAGGACAATAACAATCTGGGCAGGAAGAAGAGAAAACTCAAAAGTATTGTGTTCTCTTGAATCAAAACTCACGCGCCTCCAGGAGCTGCCTCCTGCCTCCCGCTGGACCCCTAACCCTAGTCCAGCGTTTCATGGTCTCTTTCAGACTCCTTTTCCCCTCTTGCTCCTTCTAACAGATAACTAGGTCATCCAGGCTCCCTGACTCTAGTCCTGGTGGCCTCAGGCCCCTGCCACTGCAGCCACCTTTCCTGGAGCCTGCAGCCCAGCAAGGGTCCCCATCCCAGTGCTCACCTGAGGATAGCAGGCCCACAATAGGATGGGTGGATCTTAACGCAGACATCTTCCAGCTGCAACCGCTCAATGGGGCTGAGGTCATAGGTGGACCGGGGTGTGCTGGCCAGCCAGCTGTAGTCCACACCGGTGCAGACCTTTCTGACCGCATTGCTGCGCTCCCGCTGCTGCCTCTCAGCCTCTCGCATCTGCCCCGTCAGCTCCATCATAAGCGTCTCCAGCACCATCTCAGCAGGGCTCCTGGTGGACAGCCGGGATGGGGCCTCGTTCCACCGAAGCCATGATGAGAGACATAGCCCCTGGCCCTGCTGAGACAGGACAGATGTGCATCTTTCCTGGGCCCCTCTGTTAGTCAGAGTGGGGAACCTGGGAACCCAAGGGGGAGAGAGGAGAGCTGGGACCCAGGAGAGAAGACCTGCTCTGCCCTAACAGTTGAGTGGCCTCAAGTAGGTGGCTTAATTTCCCTGAGCAATCATTTCTAATTCTGTAAGACAAGATAGGGCTGTTGTGAGAAGCAGTTGTGAATAAACTTTGTACACTGTAAACATCACATAAAAGTAAGAGACTCTTGTGATTATGATCCTTAAAGCATCCCCAGGATTGTGCCCAGAGAAAGGGCCTCCTGAATCCTCACTAACTCCCAACAAAGCTGGAAACACATGGACTATGGCTGAGCACAAGCTTTCCCTATGACTTAAGGGGAACACACACACACACACTCAGAACAGATACATCCTATGTCAGTCTACCAGGAAAACACCCTCAGCTTCTAAATGCCTCCAGCCTATTGACGAAAGACACTTAGAACTCTATGGGGTTGGCCAGCCATGGTGGTTCACACCTGCAATCCCAATACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTTGGGAGATCAAGACAAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGTGGAGGTTGGGGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAAAAAGAGCAAAACTCCGTTTAAAAAAAAAACTGTATGGATTAACATTAACCTGAAAAAAACCAACTTACCCACCATTCATTCATTCAGCATTAATCAAGCACTGTGTACACATCTGTGGAGGGACATAAACACGAAAGGATGATGCCAGGATCCTGCTCTCCAGGAGAGGCAAGATTTGTTGAGTAAACGCTGCAACATCAATGGAGAGAGGGAACTCTGCTGGTGAAGCATAGAGTCAGCACTGATGTGGGAGGGGAAGGTGTGACCCTAGATGGTGAAAAGTGCCAGAGTGGGCTGAGAGGTGAGTGCGGGCTTCAGACACATGGGCTGATGGAGAAGGGGTCCCAGGTGGAGGGAGGATCCAGCCATAGAACAAGGTGAGACAGGTGGAGGTCTGACAGCAGCGAGCCTAACTCATCATGGAGCCCCCACACAGGCCTGCTAAATACAAATTTAGTGAAGGACAGACCGAGTAGATGAATGAACGAATGAATGAATGGGTGAATGAGCTACTCCATGACCTGTCAGATGTGGTCTGTGCTTCTGACAACAGTGAAGGGAAATGACATTCCCGAGCTAAAGCCTGAAGTGGGTCTTCGAGGGGTCTCACTTCATCTTTCTGCACCTTTCTCCCTCCAAGCCGTTCCCCCTTCCATGCACCAATGATCCCATTTCTGCTTAGACCCTCCATACGCAGAGAAAAGAGGTCAGATGAACTCAGTCTCAACAGCATGGTGATGAAGGAGGTGTCACCTCCAGAGGACACATGCATTTTTAGGCCACCCTCCCATCACCCTGCACCCCAGTGCTTAATGCAGAGAAATGAATTGTTAAGGTAAATAATCAGACACAAAGGAGAATATTATGATGGGGTAGCAGCAGCCTTCTGGAAGGCCACAGCTAAATCTCTACTTACCGATGGAGACTTGAATGACCAACTCCTTTAGCAACCAACAGAATTAAGAAATCTGAAAACAGGCCAGGCATGATGGCTCATGCCTGTGATTCCAGCACTTTGGGAGGCCGAGGAGGGCAGCTCACTTGAAGCCAGGAGTTTGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAGAATACAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTGGGGAGGCGGAGTGAGCTGAGATGGTGCCACTGCATTCCAGCCTGGGTGACAGAGCGAGACTCNN
|
pathogenic
| 21,503
|
A genetic alteration at chromosome 1, position 212858590, in gene FLVCR1—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic
|
AACATAGCTTCCCAAGGAGCAGAAGGGCTGAATTTTCTCTAGTTCCAGGAAGACCGCAAGGCTACTGTGCTCTGGATGTCTCGTTTTTATTTTTTTATTTTTTTATTCTCCAGATCTCAAGACGGTGTCTGGCACATACCATTCAATACAAGTTTGGTACCTGGAACCCACTGAATATGCATGTCCAGTAACTATTAACTACATGTGTTGGTGCAAGGGAGAAGGTCGAGCAACCGGATCTGCTCCATCATAGCCCGTCTCAGTCGCTTCATTCAAGTCAGCGGGGTGAGGTTGAGGGGATTCCAACTTCACAAGGGCAGATTTCTCATGGACTCTCTTTCTCTGGTTGTACTGGAACACTTTCTGGCGTTATTCCTCTGCTGGGACAGCATGAACTTATGAAACGTGGTCCTGTCTGCCCTAAAGCCAGGGTCTCACCGACAAGGACAGCGATGCTGGGGCGAGAAATAAAGTTCGTCCTGGGCCTGCGTACGGTACAGCGCCCTTGGGAAGCCCTTGTGGAGTTAAGGGTGATGCCCACTTCTTTGTCTCCCTCATTCTGTTTCGGTGGCTCTCTCGTTCCCAGTTCCAAGCTGCCCACTTGTTAGAGGAGCCACTGCTTACCAGGCATCTGGTTTAATAAAACATGGCTAGAGCGACTGCATGTTAAAGTGAGTAACTAGGCACTCACAAGGCACCTATAAGGTTAATGCTAAAGGTCTGAAAATAGCCGCATTCTAAGCTGACCAACAATTATAATTACACAATATTTATGGCCATACAGGACATCTCCCACCAAGTCTGCGGAATTGTCCAGATGTCCTGAGTTTTTTTTTTTTTTTTAGACAAGGTCTCACTTTGTCGCCCAGGCTAGGCTGGAGGGCAGTGTGGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACCACCACGCCTGGCTACTGGCTTTTTTTTTTTTTTTTTTTTTTTTAAATAGATGGCATCTCAGTATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGGGAGACTCCTGTCCGGCCTCCCACAGTGCTGGGATTACAGACGTGGCCACCGAGCCCGGCCCAGCCCTCTACTCAGAGATAACGTCAATGCGCAGGCTTAGGTTGAAGGATTAATGGTCATTAGTGCACCAACAGCCCCTACCTTTAGTGGGCACATCAGCACATTCCACGATTAATCACAGCTCCTCACAGCTGCCTCTAAGTAGTGACACTACCGAAGGACGGGAGTTCCTCCTCCTGCAGTCTGAGGACTTGCACTCTCTAACGGAGTAGATTCCAATAAACTTGCTTCCTTCACTGCGCTCTGTGACTCGCCTCCAATTCTTCCCTGAAGTAGACCCAAGAACCCTCTCTTGGGGTCTGGATCGAGACCCCTTTTTCCAGCAACACAACCCGCGGGGCCGCCTCCCGCCCACCCTCAGGTGCAGGAGACCCCGGGCCATGCATCCTTCCGGGCAGGAAAATGTCAGCCAGCGCTCGCCGGCCGCTTTCCTCCCCCGCCTCCCGAAGTTCTCGCCCGGTAGCTCCCCGACTGGCTCTCGCGCCGGACAAAGGCGCACGCTGATTGGCCGGAGGGCCGTAGTCATGCAGGACGCGCGACTCTAGGGGCGGGACCAGACAAGGGGTGACTGCCGCGCGGCGCGGGGGAGGAGACCTTCATCTGTTCACGCGGTAGCGCGGATTGCGGTTCGCGGCGCGCGCCACCGGGGAAGGAGCGGTGGGCCGAGGGGTTGGAGGTGGGGCCCCAGGAGGACCTCGGGCTGTGGGCCGGGAGAGCGGAGTCGGGGAGTGGGGCGGGGGAGCGAGGTGGCGCCGGGGAGCCTGGGATATGGCGCGGCCAGACGATGAGGAGGGGGCGGCGGTGGCGCCCGGACACCCGCTCGCGAAAGGATACCTCCCGTTGCCGAGGGGCGCGCCCGTTGGGAAGGAGAGCGTGGAGCTGCAGAACGGGCCCAAAGCGGGCACCTTCCCGGTGAATGGGGCCCCCCGGGACAGCCTCGCTGCCGCCTCGGGAGTTCTGGGCGGGCCTCAGACTCCACTGGCCCCAGAAGAGGAGACCCAGGCCCGGCTGCTGCCTGCGGGCGCGGGAGCTGAGACCCCGGGGGCCGAGAGCAGCCCGCTGCCCCTTACGGCGCTCTCCCCGCGGCGCTTCGTGGTGCTCCTGATCTTCAGCCTGTACTCGCTGGTCAACGCCTTTCAGTGGATCCAGTACAGCATCATTAGCAACGTCTTCGAGGGCTTCTACGGTGTCACCTTGCTGCACATCGACTGGCTGTCCATGGTGTACATGCTGGCCTACGTGCCCCTCATCTTCCCGGCCACCTGGCTGCTGGACACCAGAGGCCTGCGGCTCACCGCCCTGCTGGGCTCCGGCCTCAACTGCCTGGGTGCCTGGATCAAGTGCGGCAGTGTGCAGCAGCATCTCTTCTGGGTCACCATGTTGGGCCAGTGCTTGTGCTCGGTGGCCCAGGTGTTCATCCTGGGCTTGCCCTCCCGCATCGCCTCAGTGTGGTTTGGGCCCAAAGAGGTGTCCACAGCTTGTGCCACCGCCGTGCTGGGCAATCAGGTAAGTACTGGAGTGGTAGGTGAAAGTCAGATCCTTAAAAGACCGGAAAAAGTCATAGGCCGTGAGAACTATGGCCTGTATGGATGAACTGCCCCAGGAGGTATTTGTCTATAAAAGAGGAGATGAAGCCGTTGAATAGGAGGCCGTCTTGGATTGAAGTGGGCTATAAATTTCTTTGTAAGGACAAAATTTTCCAAACGACCTTGTCATCTTGCTTTGAAAATTACCTATAAAATAATTAACTGGGCCGGGCGCGGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTCAAGTCAGGAGTTCCAGACCAGCCTGGGCAACATGGGGAAACCCCGTCTCTGTTAAAAATACAGAAATTAGCCAGGCCTGCTTGCGGGTATCTGTAGTCCCAGCAACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCGGAGATTGCACCTTTGCACTCCAGCTTGGGTGACAGAGTGAGACTCTGTCTCAAATAATAATAATAAACTGTAACCATAATAATAATAATAATAATTAACTGTATTGGCTTGTGTATGCCTAACATGGAAAATTTGTCAATGCAGTAACGAACAAGACTTGGGGTATTATTTTTGTCACCAGTGTATTTGTGAAAGGAAGGTATTGGGTTCTGGGAAGATTGTTTCCATTTTGAGAGGTCATTGTGAACAGCTCCCTTTTAATTTCATATATTAGCAGTCAGCACAGTTCCTGGCACATAAGGGACACATAAATGACTGCTAACCAAAAGTTCTGGGCTGGGCGTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGAGGCCAGGAGTCTGAGACCAGCCTGGCCAACATGGCAAAACCAAATACACAAAAATTAGTGGGGCATGGTGTGGTGCATGCCTGTAATTCCAGCTACTCAGGTGGCCAAGGCATGAGAATCTACATGCTTATTGCTTTATAGTCATTTCCCTTATCTAAAAGTACAGAAGATGGAGTAGGTTGAACTATAGTTGTTTGTCCAAAATAATTTATGACTGATACTTGAGTTGGTTGCATCTGCAGGTTTGGACAGAAGCTATTATAAAGTTTTTTGTGTGTGTGGTTTTTTTTTTTTTTTTTTGTAGAAATGGGGTTTCTCCATGTTGCTCATGCTTGTCTCGAACTGCTGAGCTCAAGCTCTCTGCCCACCTCTGCCTCCCGAAGTGCTGGGATTACAGGTGTGAACCACCACGCCCGGCCATGATTACATTTTCTTTGTCACACATCTCTCAGTTTAAATTCATTTTTAAATATTCAGTAGCATTTCTTGATCCCATTTAGAGTTGCCCAGTCACTCTCTTTACATTATTTTACTTTAATTCTCCTTATAGCACTCATCCCTGTCTCATA
|
AACATAGCTTCCCAAGGAGCAGAAGGGCTGAATTTTCTCTAGTTCCAGGAAGACCGCAAGGCTACTGTGCTCTGGATGTCTCGTTTTTATTTTTTTATTTTTTTATTCTCCAGATCTCAAGACGGTGTCTGGCACATACCATTCAATACAAGTTTGGTACCTGGAACCCACTGAATATGCATGTCCAGTAACTATTAACTACATGTGTTGGTGCAAGGGAGAAGGTCGAGCAACCGGATCTGCTCCATCATAGCCCGTCTCAGTCGCTTCATTCAAGTCAGCGGGGTGAGGTTGAGGGGATTCCAACTTCACAAGGGCAGATTTCTCATGGACTCTCTTTCTCTGGTTGTACTGGAACACTTTCTGGCGTTATTCCTCTGCTGGGACAGCATGAACTTATGAAACGTGGTCCTGTCTGCCCTAAAGCCAGGGTCTCACCGACAAGGACAGCGATGCTGGGGCGAGAAATAAAGTTCGTCCTGGGCCTGCGTACGGTACAGCGCCCTTGGGAAGCCCTTGTGGAGTTAAGGGTGATGCCCACTTCTTTGTCTCCCTCATTCTGTTTCGGTGGCTCTCTCGTTCCCAGTTCCAAGCTGCCCACTTGTTAGAGGAGCCACTGCTTACCAGGCATCTGGTTTAATAAAACATGGCTAGAGCGACTGCATGTTAAAGTGAGTAACTAGGCACTCACAAGGCACCTATAAGGTTAATGCTAAAGGTCTGAAAATAGCCGCATTCTAAGCTGACCAACAATTATAATTACACAATATTTATGGCCATACAGGACATCTCCCACCAAGTCTGCGGAATTGTCCAGATGTCCTGAGTTTTTTTTTTTTTTTTAGACAAGGTCTCACTTTGTCGCCCAGGCTAGGCTGGAGGGCAGTGTGGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACCACCACGCCTGGCTACTGGCTTTTTTTTTTTTTTTTTTTTTTTTAAATAGATGGCATCTCAGTATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGGGAGACTCCTGTCCGGCCTCCCACAGTGCTGGGATTACAGACGTGGCCACCGAGCCCGGCCCAGCCCTCTACTCAGAGATAACGTCAATGCGCAGGCTTAGGTTGAAGGATTAATGGTCATTAGTGCACCAACAGCCCCTACCTTTAGTGGGCACATCAGCACATTCCACGATTAATCACAGCTCCTCACAGCTGCCTCTAAGTAGTGACACTACCGAAGGACGGGAGTTCCTCCTCCTGCAGTCTGAGGACTTGCACTCTCTAACGGAGTAGATTCCAATAAACTTGCTTCCTTCACTGCGCTCTGTGACTCGCCTCCAATTCTTCCCTGAAGTAGACCCAAGAACCCTCTCTTGGGGTCTGGATCGAGACCCCTTTTTCCAGCAACACAACCCGCGGGGCCGCCTCCCGCCCACCCTCAGGTGCAGGAGACCCCGGGCCATGCATCCTTCCGGGCAGGAAAATGTCAGCCAGCGCTCGCCGGCCGCTTTCCTCCCCCGCCTCCCGAAGTTCTCGCCCGGTAGCTCCCCGACTGGCTCTCGCGCCGGACAAAGGCGCACGCTGATTGGCCGGAGGGCCGTAGTCATGCAGGACGCGCGACTCTAGGGGCGGGACCAGACAAGGGGTGACTGCCGCGCGGCGCGGGGGAGGAGACCTTCATCTGTTCACGCGGTAGCGCGGATTGCGGTTCGCGGCGCGCGCCACCGGGGAAGGAGCGGTGGGCCGAGGGGTTGGAGGTGGGGCCCCAGGAGGACCTCGGGCTGTGGGCCGGGAGAGCGGAGTCGGGGAGTGGGGCGGGGGAGCGAGGTGGCGCCGGGGAGCCTGGGATATGGCGCGGCCAGACGATGAGGAGGGGGCGGCGGTGGCGCCCGGACACCCGCTCGCGAAAGGATACCTCCCGTTGCCGAGGGGCGCGCCCGTTGGGAAGGAGAGCGTGGAGCTGCAGAACGGGCCCAAAGCGGGCACCGGGCCCCCCGGGACAGCCTCGCTGCCGCCTCGGGAGTTCTGGGCGGGCCTCAGACTCCACTGGCCCCAGAAGAGGAGACCCAGGCCCGGCTGCTGCCTGCGGGCGCGGGAGCTGAGACCCCGGGGGCCGAGAGCAGCCCGCTGCCCCTTACGGCGCTCTCCCCGCGGCGCTTCGTGGTGCTCCTGATCTTCAGCCTGTACTCGCTGGTCAACGCCTTTCAGTGGATCCAGTACAGCATCATTAGCAACGTCTTCGAGGGCTTCTACGGTGTCACCTTGCTGCACATCGACTGGCTGTCCATGGTGTACATGCTGGCCTACGTGCCCCTCATCTTCCCGGCCACCTGGCTGCTGGACACCAGAGGCCTGCGGCTCACCGCCCTGCTGGGCTCCGGCCTCAACTGCCTGGGTGCCTGGATCAAGTGCGGCAGTGTGCAGCAGCATCTCTTCTGGGTCACCATGTTGGGCCAGTGCTTGTGCTCGGTGGCCCAGGTGTTCATCCTGGGCTTGCCCTCCCGCATCGCCTCAGTGTGGTTTGGGCCCAAAGAGGTGTCCACAGCTTGTGCCACCGCCGTGCTGGGCAATCAGGTAAGTACTGGAGTGGTAGGTGAAAGTCAGATCCTTAAAAGACCGGAAAAAGTCATAGGCCGTGAGAACTATGGCCTGTATGGATGAACTGCCCCAGGAGGTATTTGTCTATAAAAGAGGAGATGAAGCCGTTGAATAGGAGGCCGTCTTGGATTGAAGTGGGCTATAAATTTCTTTGTAAGGACAAAATTTTCCAAACGACCTTGTCATCTTGCTTTGAAAATTACCTATAAAATAATTAACTGGGCCGGGCGCGGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTCAAGTCAGGAGTTCCAGACCAGCCTGGGCAACATGGGGAAACCCCGTCTCTGTTAAAAATACAGAAATTAGCCAGGCCTGCTTGCGGGTATCTGTAGTCCCAGCAACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCGGAGATTGCACCTTTGCACTCCAGCTTGGGTGACAGAGTGAGACTCTGTCTCAAATAATAATAATAAACTGTAACCATAATAATAATAATAATAATTAACTGTATTGGCTTGTGTATGCCTAACATGGAAAATTTGTCAATGCAGTAACGAACAAGACTTGGGGTATTATTTTTGTCACCAGTGTATTTGTGAAAGGAAGGTATTGGGTTCTGGGAAGATTGTTTCCATTTTGAGAGGTCATTGTGAACAGCTCCCTTTTAATTTCATATATTAGCAGTCAGCACAGTTCCTGGCACATAAGGGACACATAAATGACTGCTAACCAAAAGTTCTGGGCTGGGCGTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGAGGCCAGGAGTCTGAGACCAGCCTGGCCAACATGGCAAAACCAAATACACAAAAATTAGTGGGGCATGGTGTGGTGCATGCCTGTAATTCCAGCTACTCAGGTGGCCAAGGCATGAGAATCTACATGCTTATTGCTTTATAGTCATTTCCCTTATCTAAAAGTACAGAAGATGGAGTAGGTTGAACTATAGTTGTTTGTCCAAAATAATTTATGACTGATACTTGAGTTGGTTGCATCTGCAGGTTTGGACAGAAGCTATTATAAAGTTTTTTGTGTGTGTGGTTTTTTTTTTTTTTTTTTGTAGAAATGGGGTTTCTCCATGTTGCTCATGCTTGTCTCGAACTGCTGAGCTCAAGCTCTCTGCCCACCTCTGCCTCCCGAAGTGCTGGGATTACAGGTGTGAACCACCACGCCCGGCCATGATTACATTTTCTTTGTCACACATCTCTCAGTTTAAATTCATTTTTAAATATTCAGTAGCATTTCTTGATCCCATTTAGAGTTGCCCAGTCACTCTCTTTACATTATTTTACTTTAATTCTCCTTATAGCACTCATCCCTGTCTCATANNNNNNNNNNNNN
|
pathogenic
| 21,530
|
Regarding the variant found on chromosome 1 at position 212863739 in gene FLVCR1 (FLVCR choline and heme transporter 1): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Posterior_column_ataxia-retinitis_pigmentosa_syndrome']
|
ATGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGACTACAGGCACCCGCCTCCACACCCGGCTAATTTTTTGTATTTTTTAGTAGAGACTGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCCCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTCTATCTAGCTTTTTGTAAGGGAGCAAATGAAATATTTGATAAGTGTGACTATCTCTGCCTCAGACTCCTTTCTTGGGCCCTTCCTCCTCACGCCCTTCCTCCTAAAAATCTTCCTCCTAAAAACCTTCCTCCATTGAACCTCCTAATAGTTTGATTTTATTTCTTGTGATTATGATATTTAGCCATATTTTTTGTTGAGGTAAAATTCACATAAATAAAACTAACCATTTTAATGTGTACAATTCAGTGGCGTTTAGTACATTTACAGTGTTGTGCAACTGTTACTTCTGTCTAGTTTCAAAACATTTTTATCCACCCGCAAAGAAGGCCCAATACCTACTAAACAGTCACTTCCCCACCATTGCCCCCTCCCCTAGCCTGTGGCAAGTACTAGTTTCCCTTCTCTTTCTGTGGATTGACCTGTTCTGGATATTTCATATAAATGGAATCATACAGTAGGTGACCTTTTGTGTCTGGCTTCTTTCACTTAGCTTATTTGCAAAGTTCATCCATGTTGTAGCACTGTATCAGTACTTCATTCCTTTTTAATAGCTGAATAATATTTCATTGTATGAATATACCACATTTTGTTTATCCATTTATCTGTTGATAAATGTTTGGGTTATTTTCACCTTTTGGTTATTGTGGTAATGTGAATAGGGCTGCTGTGAACATTCATATGTAATTATTTGTTTGAATTTCTGTTTTCAGTTTTGGGGACATATACCTAGGAGTAGAATTGCTAGGTCATATGGTAATTCTATGTTAAACTTATTAAGGAACTGCCAAACTTGTCTGCAGTGGCTGCACCATTTTATAGTCCCACCAGCCGTATTCAAGGGTTCCAATTTTTCCACATTCTTGCCAACACTTTTATATTGCTATTATTGTTATTATAGTAGCCATGCTACCTGGTGTGGAGTGGTATCTTATGGTTTTGATTCGGGCATGTTTTCAAATGCTTATTGACCATTTGTATATCTTCTTTGGAGAAATGTCTATTCAAGTCTTTTGCCCATTTTAAAATTGGGATATTGCTTTTTTGTTGTTGAGCTGTAATAGTTCTTTATATATTCTGGAAGCTATACCCTGATCAGATATATAATTTACAAATTTTTCTGATTCTGTAGGTCATCTTTTGTCAGCCTTATTTTGCATATTCTTATTCCCCTTTTGTAAGCATCTGCAGGGCAAGGACTGTATATTACACAGCTTTATAATAGCAGCATCACTCAGATGGTAGGAACTCAGTAAATGTTTTTTGGATAGGAGAGATATTGGTGAGCAATTTCCCTTTAACAATACAATAGTAAAAAAGACATTAGAGCATAGTAGTTTAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGTTCGACACCAGCCTGACCAACATGGTGAAACCCCGTCTGTACTAAAATACAAAAATTAGCTGGGCGTTGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGAGAGGTTGCAGTGAGCCAAGATTGCGTCACTGCACTCCAGCCTGGGAGACAGACTTTGTCTCAAAAAAAAAAAAAAGAACATAATAGTTTAATTTTCAAAGCACCTTTATAAACACTAGCTGTCCTCTTTATGTTCTGTTAATTGCCAGCATTTACTTTTTTCTCTAATGATAATAGCTGTTAACAGGACTATGTGTTTTTCAGCTTGGAACTGCAGTTGGCTTTTTGCTACCACCAGTTTTAGTACCCAACACACAGAATGACACAAATCTCCTGGCTTGTAATATCAGCACCATGTTTTATGGAACATCAGCTGTTGCCACACTTTTATTTATTTTAACAGCAATTGGTAAGTGAATTACTTTCCCTAAAGCTTAAATGAATGCATGATAGAAATTTGAGAATAACTAACTCTGGAAATTTTTGTTGATAATATCTCAAGTGTCATGTGCTTTGTTTCATTCTTCCATGCCCTGTCTTGCTCAGGTAATGAATGCTACAACCCTAGGGATGTTATGGCCCACTACATTTATTTTCACATTGTGAAGGGTTTGAAGACTAATTCATTTATCCCTCTACTAACTTTTCTTCTTGGTAACTGTTGGTTTCAAATATATTACCTGCCTCCTCTTCCCATATTCGCCTACATGGTCTGCATCTTATGCCTCTTATGCCTACCTAGCCAGGAACAAGTTCTTGCCATGCTTTGAAGTGATGCACGTAGGCTATGGTCTTTCTGGTAATGCTAAATTCTCCCAAGGCTTTCCAATTTAACAATTAACTGGATCTGAAAATGTTGACTAGTGAATGGTCCTGGGCAGCAGCAAGCTGTTCAGCAGAATTTCAAACTGTGGCAACTATCTACTTGTTAGGCCACTCCAGCAAAGCACGGCTGCCACCACTCGTCACTGAGTCCTCTCGTCTGAGCCTGTCTCTTGAAGCAGTCAGTCAAAATCAACTGCAAGCAGCCATCATCAGTTTGGAAGAAGCTTTGGGAAGGTCTGCTTTTTAAAGTTTATTTTTAATGGGAAACTTTTGATTTCAGGGAAAAGGATAGGTAAGGTTTATTTAAGTAATATAGCTGCTAGCATAACTATAATATTGCCCTTTAGGCACTCATCTGAAATTGATTTGAAGAGGAAAAGAACTAATAAAGTTGAAATGCCATCTTTTAATCATTCAAATTTATAATTTCATTATAGCTGGAGTTTTAAATTTATATACTAGTTTTTACAATGGCTATAATAGTAATGGAAAATTCATATTTTGTGATCTCCAGATATAAAATTCTTAGTTTTCAAAGAAATGTATGCTGAAGATTCTAGAGTGTTTGGGTAGAGACTGCCTTGGTAGATGAACTGCAGGATCCAGGTACAGGAAGCTCAGCCCACATACTTAATTTCCCTTAATATAATGAGCAGAATGTTCTCTTGGTAACATATGAAGTATTCAAACATGTGTAATCCACTTGTTGGTTTTGGTTTTCAGTTAGTTATGGAGTGGCATATTTGTGATGTGCAGACTACTAAGAAGGACACATTATTCCTATCCTATTTTAGCAGTTTAGCAAAGTTTTAAAAGAAATTTGTATTCTTAAAAAAAAAACACCAAAATTCTTTTTTTTTTTATTATAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAACTCGTCATTTACATTAGGTATATCTCCTAATGCTATCCCTCCCCCCACCCCCCATCCCACAATAGGTCCCGGTGTGTGATGTTCCCCTTCCAGTGTCCATGTGTTCTCATTGTTCAGTTCCCACCTATGAGTGAGAGCATGCGGTAAAAACACCACAATTCTTAAGTCTGCTTTTCTGGTAGCCATGTTTGATTTGCTAGATGAAATAGGAAATACATTTTGCATAAATGGACCTTCCATTTGCAATAGGGATTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGAAACCTCTACCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGCTTACAGGCATGCACCACCATGCCAGCTAATTTTTGTATTTTCAGTAGAGACAGGGTTTCACCATGTTGGTCAGGTTGGTCTCAAACTCCTGACCTCAAATGATCCACCTGCCTCAACCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCAGGCCCGGCCAGCAA
|
ATGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGACTACAGGCACCCGCCTCCACACCCGGCTAATTTTTTGTATTTTTTAGTAGAGACTGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCCCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTCTATCTAGCTTTTTGTAAGGGAGCAAATGAAATATTTGATAAGTGTGACTATCTCTGCCTCAGACTCCTTTCTTGGGCCCTTCCTCCTCACGCCCTTCCTCCTAAAAATCTTCCTCCTAAAAACCTTCCTCCATTGAACCTCCTAATAGTTTGATTTTATTTCTTGTGATTATGATATTTAGCCATATTTTTTGTTGAGGTAAAATTCACATAAATAAAACTAACCATTTTAATGTGTACAATTCAGTGGCGTTTAGTACATTTACAGTGTTGTGCAACTGTTACTTCTGTCTAGTTTCAAAACATTTTTATCCACCCGCAAAGAAGGCCCAATACCTACTAAACAGTCACTTCCCCACCATTGCCCCCTCCCCTAGCCTGTGGCAAGTACTAGTTTCCCTTCTCTTTCTGTGGATTGACCTGTTCTGGATATTTCATATAAATGGAATCATACAGTAGGTGACCTTTTGTGTCTGGCTTCTTTCACTTAGCTTATTTGCAAAGTTCATCCATGTTGTAGCACTGTATCAGTACTTCATTCCTTTTTAATAGCTGAATAATATTTCATTGTATGAATATACCACATTTTGTTTATCCATTTATCTGTTGATAAATGTTTGGGTTATTTTCACCTTTTGGTTATTGTGGTAATGTGAATAGGGCTGCTGTGAACATTCATATGTAATTATTTGTTTGAATTTCTGTTTTCAGTTTTGGGGACATATACCTAGGAGTAGAATTGCTAGGTCATATGGTAATTCTATGTTAAACTTATTAAGGAACTGCCAAACTTGTCTGCAGTGGCTGCACCATTTTATAGTCCCACCAGCCGTATTCAAGGGTTCCAATTTTTCCACATTCTTGCCAACACTTTTATATTGCTATTATTGTTATTATAGTAGCCATGCTACCTGGTGTGGAGTGGTATCTTATGGTTTTGATTCGGGCATGTTTTCAAATGCTTATTGACCATTTGTATATCTTCTTTGGAGAAATGTCTATTCAAGTCTTTTGCCCATTTTAAAATTGGGATATTGCTTTTTTGTTGTTGAGCTGTAATAGTTCTTTATATATTCTGGAAGCTATACCCTGATCAGATATATAATTTACAAATTTTTCTGATTCTGTAGGTCATCTTTTGTCAGCCTTATTTTGCATATTCTTATTCCCCTTTTGTAAGCATCTGCAGGGCAAGGACTGTATATTACACAGCTTTATAATAGCAGCATCACTCAGATGGTAGGAACTCAGTAAATGTTTTTTGGATAGGAGAGATATTGGTGAGCAATTTCCCTTTAACAATACAATAGTAAAAAAGACATTAGAGCATAGTAGTTTAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGTTCGACACCAGCCTGACCAACATGGTGAAACCCCGTCTGTACTAAAATACAAAAATTAGCTGGGCGTTGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGAGAGGTTGCAGTGAGCCAAGATTGCGTCACTGCACTCCAGCCTGGGAGACAGACTTTGTCTCAAAAAAAAAAAAAAGAACATAATAGTTTAATTTTCAAAGCACCTTTATAAACACTAGCTGTCCTCTTTATGTTCTGTTAATTGCCAGCATTTACTTTTTTCTCTAATGATAATAGCTGTTAACAGGACTATGTGTTTTTCAGCTTGGAACTGCAGTTGCTTTTTGCTACCACCAGTTTTAGTACCCAACACACAGAATGACACAAATCTCCTGGCTTGTAATATCAGCACCATGTTTTATGGAACATCAGCTGTTGCCACACTTTTATTTATTTTAACAGCAATTGGTAAGTGAATTACTTTCCCTAAAGCTTAAATGAATGCATGATAGAAATTTGAGAATAACTAACTCTGGAAATTTTTGTTGATAATATCTCAAGTGTCATGTGCTTTGTTTCATTCTTCCATGCCCTGTCTTGCTCAGGTAATGAATGCTACAACCCTAGGGATGTTATGGCCCACTACATTTATTTTCACATTGTGAAGGGTTTGAAGACTAATTCATTTATCCCTCTACTAACTTTTCTTCTTGGTAACTGTTGGTTTCAAATATATTACCTGCCTCCTCTTCCCATATTCGCCTACATGGTCTGCATCTTATGCCTCTTATGCCTACCTAGCCAGGAACAAGTTCTTGCCATGCTTTGAAGTGATGCACGTAGGCTATGGTCTTTCTGGTAATGCTAAATTCTCCCAAGGCTTTCCAATTTAACAATTAACTGGATCTGAAAATGTTGACTAGTGAATGGTCCTGGGCAGCAGCAAGCTGTTCAGCAGAATTTCAAACTGTGGCAACTATCTACTTGTTAGGCCACTCCAGCAAAGCACGGCTGCCACCACTCGTCACTGAGTCCTCTCGTCTGAGCCTGTCTCTTGAAGCAGTCAGTCAAAATCAACTGCAAGCAGCCATCATCAGTTTGGAAGAAGCTTTGGGAAGGTCTGCTTTTTAAAGTTTATTTTTAATGGGAAACTTTTGATTTCAGGGAAAAGGATAGGTAAGGTTTATTTAAGTAATATAGCTGCTAGCATAACTATAATATTGCCCTTTAGGCACTCATCTGAAATTGATTTGAAGAGGAAAAGAACTAATAAAGTTGAAATGCCATCTTTTAATCATTCAAATTTATAATTTCATTATAGCTGGAGTTTTAAATTTATATACTAGTTTTTACAATGGCTATAATAGTAATGGAAAATTCATATTTTGTGATCTCCAGATATAAAATTCTTAGTTTTCAAAGAAATGTATGCTGAAGATTCTAGAGTGTTTGGGTAGAGACTGCCTTGGTAGATGAACTGCAGGATCCAGGTACAGGAAGCTCAGCCCACATACTTAATTTCCCTTAATATAATGAGCAGAATGTTCTCTTGGTAACATATGAAGTATTCAAACATGTGTAATCCACTTGTTGGTTTTGGTTTTCAGTTAGTTATGGAGTGGCATATTTGTGATGTGCAGACTACTAAGAAGGACACATTATTCCTATCCTATTTTAGCAGTTTAGCAAAGTTTTAAAAGAAATTTGTATTCTTAAAAAAAAAACACCAAAATTCTTTTTTTTTTTATTATAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAACTCGTCATTTACATTAGGTATATCTCCTAATGCTATCCCTCCCCCCACCCCCCATCCCACAATAGGTCCCGGTGTGTGATGTTCCCCTTCCAGTGTCCATGTGTTCTCATTGTTCAGTTCCCACCTATGAGTGAGAGCATGCGGTAAAAACACCACAATTCTTAAGTCTGCTTTTCTGGTAGCCATGTTTGATTTGCTAGATGAAATAGGAAATACATTTTGCATAAATGGACCTTCCATTTGCAATAGGGATTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGAAACCTCTACCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGCTTACAGGCATGCACCACCATGCCAGCTAATTTTTGTATTTTCAGTAGAGACAGGGTTTCACCATGTTGGTCAGGTTGGTCTCAAACTCCTGACCTCAAATGATCCACCTGCCTCAACCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCAGGCCCGGCCAGCAAN
|
pathogenic
| 21,538
|
Benign or pathogenic: chromosome 1, position 212888496, gene FLVCR1 (FLVCR choline and heme transporter 1) variant? Disease(s) if pathogenic?
|
pathogenic; ['Retinitis_pigmentosa']
|
CTTTTTGGCTAAAGTACGCCCAGACTACAGTACCACTTAACTGTAATATAATGCATAATGTGAAAATGCTGGTTTGACACAATGTCTTATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGCGGGTAGATTGCTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATGGTGAAACGCCATCTCTACTGAAAATACAAAAAATAGTCAAGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTAAGGAAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGCGAGCTGAGATAGCGTGCCACTGGTCTCCAGCCTGGGTGACAGAGCAAGACGCTGTCTAAAAAAATAAAAAAAAAAGAATATACTCTGTTAATTGTACATTATATGGAACCACCAAAAGGCTAATACCAAAGAAAATGAATGATACCAACTGGGAGACTAAGAAAGGGGTTTCAGAGGCAGCATATTTTGCTCTGGGAGTGAAAAGAATCACCACATTTTGTAACATGCCAAAACTTACCCCTGTACTTGGAAATGAATGAATGAAACTATTAAGGAATAAATGAATGAAATATGGAACTGTGTCCCGTGTACCTTTCAAGGCTCAAGATATATTTGATATTATTAGTCTAAACGCTACCAAAAGTATCTCTAATCTTGAAATTCTCCATATTCTTCCATAATTTAAGACAGCACTTGCCTTAGCTTCATTATTTTAAAATGATAGCTTAGAGTGAAACCTACTTGATATATAGATGAAGGGAGCATATGTAAAGGATTATATTTCTTAAGTCTTTCATCCGTTATACATTTAGAAAACTTGATAGGCATAGATGTGTGTTCTTTGCCACTGTGGCTTCCTTCTCAGGGTAACTGCCATTCATTCACCAAACTCCTGTTGTGTGCATCTTTCTTAGATGAAAATTATGGCTGGCATTATGTGATCCCTGTTCTTAAGATGTTTGTGGTCTAAATGGAGCAAATAAGGCATTCACATGTGAAAAGTTAAATAATATAACAAACTAAAATAGATGTCATAAGTTTTATAGTGCCAGTATGATAAGGGAATTTGGAAGAAAGAGAGACTCTTATAAACTGGTGTCGTTACAGAAGGCATTTGGAAGAGGTAGAATTTGATCTGAATCTTGAAATGTGAATAGGGAACTATCCCATTTGGTGGCATAAAAATGATTTTATTCCTATAAAAGGATCCTATCTGAGCATTCGATATGGTGTGGTTTTCTGGTGCTGCTGAATCTTAAATTAAAAATGCTTTAAAATTTGTGCTTTGGTGGATACATATTTCCATGGACAAGAAGGGGTGAACTTTGAAAAACAAAGATTCATTACTGAACAGGTAAGAGTGATGATTTTTGTATTCCTAGGAGAATCAGACAAAATACTAACAGCTTTGTTGTTTTTGTTTTAGACAGACTACTCTGATAGTTTATATTTTGTCTTTTATTGGAATGGTTATCTTTACTTTCACATTGGACCTTAGATATATTATCATCGTGTTTGTTACTGGAGGGGTGCTTGGGTAAGTATCAGATGTGTTTAGGAGGAATGATAGCATGCTGTTATAATTCTGAAGTATTATTACTCTGGTCTTTAATTTTTTCAGTTCATCCAAAGTTTCTTCAATATTTTAAACTTTAAAGGATTCATTCTATGCATATAAACATGTAATTCTTAAGAACTATTAAAAATTATTTAAAATTGGTTTTTGGTATACCATAGGTAAAAAATGGATGAGCCTTACTTAATCTGTGTAACTTTATTTGGTTACAATCAACTTATAAAACTAGAAGTAAATTTTTCTCAGAAAAAAATGTGTATTTGTTGCTTCCAGTTCTGTAACCTTGAGCTGATTGGTCAATGATAATAGTTCCTTACTTTGACATAGCAACTTCAAAATATTCACTTATTTGGTCATTAGAATAAGCCCGAGAGGCAGAATGATTGCATCAGTATGTGATTGTGACTTTCTGGTAGTTCTTTCTGTAATTCTGGATTTATTTTCCTAGCTTCTTCATGACTGGTTACCTCCCTTTGGGTTTTGAATTTGCTGTTGAAATCACTTACCCTGAATCTGAAGGTACTTCATCTGGTCTTCTTAATGCTTCTGCACAGGTAAACCTCTGATTTCTCTAAACCTGAGATGATTATTATACCAGATATTCTAGTGAGTAATGAGTTTGACCATGGTTTTATTTGTTGTTGTTGTTGTTTTGTTTTTTGGAGACAGAGTCTTGCTCAGCCATCCAAGCTGGAGTGCAGTAGTGCAGTCATGGCTAACTATAGCCTCAAACTCCTAGGCTCAAGCAATCCTCCCCCCTCTGCCTCCAGAGTTTTTGGGACTGCAGGTGCACACCAGCATGCCCAGCTAAATTTTTTTTGTTATTTTTTGTAGAGATGGTGTTTTGCCATGTTGTCCAGGCTGGTCTCGGACTCCTGGGCTCAAGCAATTCGCCTACCTCAACTCCCAAAGTGCTAGGATTACAGTGGGTGTGAGCCACTGCACCCAGCCTGACCGTGGTTTTTGTTTTAACAATTCAACTTTTCAATGAATGTTTCTAGAAACCAAATCATATAACCAAAATAAGAAAAGTTCTGGTGAAAACTTTATACTTGCTTTAAATAATTTAACTTAATAACGAATGATTTTTCTTATTGTATTTTAGATATTTGGAATTTTGTTCACATTGGCTCAAGGAAAGCTCACATCAGACTATGGTCCTAAGGCAGGGAACATTTTTCTCTGTGTCTGGATGTTTATAGGCATCATATTAACAGGTAAATTAGGGCGTTTGCCTGGCAAAAGGACTTGTGTCATGTGTTAATTTTCATATATATTGCTTCTCAATAGCTTGACAGAACTCAAGGGGAAAAAAATGAGATAAAAAGCAGGACATTATTTGTTTTCTTCTAAAGACATGAATCTCTTACTTCATTTTGCAGATTTCAAATTCAATACAGTTACTCTGCATAGCAAGCAAAACTGTTATAATAAGAGTAGTAAAGGCTGGGTGTGTTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCAGATTACTTGAGGTGAGGAGTTTGAGACCAGCCTAGCCAACATGGCGAAACCCCGTCTCTACTAAAATTAGCCAGTTGTGGTGGCGCACACGTGTAGCCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATTGCTTGAACCCAGGAGACAGAGGTTGCAGTGAGCCAAGATCACACGAGTGCACTCTAGCTTGGGCAACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGTAAAGACCTGGAGTTGGGAAGACCTGGCCTCAAATTCCGATTCTGTTGCTCAGTGGGAGTGTGACTTTAGACCCGTTGCTTAACCTCTCAAATCCTCCTTTCCTTATTTATATAATAGAGTGTTAAAGCCTGCTTTATAGGGTTACTGTGAGGATTAATTGAAATGGTTCATGAAAAGTTCCTAGTGTCTGGCACCTGGGACGTGCCTAACATGTGTTACTATTGTTATAATGTGGTAGAGATGGTAAGCAGTCAAGTGGTAGTGGTGGAAATAGTATGTGGAATCCTTAGCTAGTGCTTATACTTCTTAGGTATAGTCATCATAGACATGGGCAGGAAAGAAAATAGTGCTCAATCTCCAGAGAAAGAGAATGTCAGAGAATTTTTATCCATAGTTTGCCCATGCACATGGGTGTACAATAGATTTGGAAGCAGAACTTTTTCCAGGTGCATACTTTTAAAATGTCATCATTCCCTAAACATTATAGTATAACAGCTATTTACATTGTATTAGGTATTAGTAATCTAGAGATGGTTTAAGTACATAGGAGGATGTGTGTACGTTATATGTAAATACTTCCCAGGGGCGTCCAATCTTTTGGCTTCTCTGGACCACATTGGAACAAGAAATATCTTGGGCCACACATGAAATACTCTAATACTAATGATAGCTAATGAGCTAAAAAAAAAAAATTGCAAAAAATCTCATAATGTTTTTTAAAAATTTGTGAGTTTGTGTTAGGCCACATTCAAAACTGTCCTGG
|
CTTTTTGGCTAAAGTACGCCCAGACTACAGTACCACTTAACTGTAATATAATGCATAATGTGAAAATGCTGGTTTGACACAATGTCTTATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGCGGGTAGATTGCTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATGGTGAAACGCCATCTCTACTGAAAATACAAAAAATAGTCAAGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTAAGGAAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGCGAGCTGAGATAGCGTGCCACTGGTCTCCAGCCTGGGTGACAGAGCAAGACGCTGTCTAAAAAAATAAAAAAAAAAGAATATACTCTGTTAATTGTACATTATATGGAACCACCAAAAGGCTAATACCAAAGAAAATGAATGATACCAACTGGGAGACTAAGAAAGGGGTTTCAGAGGCAGCATATTTTGCTCTGGGAGTGAAAAGAATCACCACATTTTGTAACATGCCAAAACTTACCCCTGTACTTGGAAATGAATGAATGAAACTATTAAGGAATAAATGAATGAAATATGGAACTGTGTCCCGTGTACCTTTCAAGGCTCAAGATATATTTGATATTATTAGTCTAAACGCTACCAAAAGTATCTCTAATCTTGAAATTCTCCATATTCTTCCATAATTTAAGACAGCACTTGCCTTAGCTTCATTATTTTAAAATGATAGCTTAGAGTGAAACCTACTTGATATATAGATGAAGGGAGCATATGTAAAGGATTATATTTCTTAAGTCTTTCATCCGTTATACATTTAGAAAACTTGATAGGCATAGATGTGTGTTCTTTGCCACTGTGGCTTCCTTCTCAGGGTAACTGCCATTCATTCACCAAACTCCTGTTGTGTGCATCTTTCTTAGATGAAAATTATGGCTGGCATTATGTGATCCCTGTTCTTAAGATGTTTGTGGTCTAAATGGAGCAAATAAGGCATTCACATGTGAAAAGTTAAATAATATAACAAACTAAAATAGATGTCATAAGTTTTATAGTGCCAGTATGATAAGGGAATTTGGAAGAAAGAGAGACTCTTATAAACTGGTGTCGTTACAGAAGGCATTTGGAAGAGGTAGAATTTGATCTGAATCTTGAAATGTGAATAGGGAACTATCCCATTTGGTGGCATAAAAATGATTTTATTCCTATAAAAGGATCCTATCTGAGCATTCGATATGGTGTGGTTTTCTGGTGCTGCTGAATCTTAAATTAAAAATGCTTTAAAATTTGTGCTTTGGTGGATACATATTTCCATGGACAAGAAGGGGTGAACTTTGAAAAACAAAGATTCATTACTGAACAGGTAAGAGTGATGATTTTTGTATTCCTAGGAGAATCAGACAAAATACTAACAGCTTTGTTGTTTTTGTTTTAGACAGACTACTCTGATAGTTTATATTTTGTCTTTTATTGGAATGGTTATCTTTACTTTCACATTGGACCTTAGATATATTATCATCGTGTTTGTTACTGGAGGGGTGCTTGGGTAAGTATCAGATGTGTTTAGGAGGAATGATAGCATGCTGTTATAATTCTGAAGTATTATTACTCTGGTCTTTAATTTTTTCAGTTCATCCAAAGTTTCTTCAATATTTTAAACTTTAAAGGATTCATTCTATGCATATAAACATGTAATTCTTAAGAACTATTAAAAATTATTTAAAATTGGTTTTTGGTATACCATAGGTAAAAAATGGATGAGCCTTACTTAATCTGTGTAACTTTATTTGGTTACAATCAACTTATAAAACTAGAAGTAAATTTTTCTCAGAAAAAAATGTGTATTTGTTGCTTCCAGTTCTGTAACCTTGAGCTGATTGGTCAATGATAATAGTTCCTTACTTTGACATAGCAACTTCAAAATATTCACTTATTTGGTCATTAGAATAAGCCCGAGAGGCAGAATGATTGCATCAGTATGTGATTGTGACTTTCTGGTAGTTCTTTCTGTAATTCTGGATTTATTTTCCTAGCTTCTTCATGGTTACCTCCCTTTGGGTTTTGAATTTGCTGTTGAAATCACTTACCCTGAATCTGAAGGTACTTCATCTGGTCTTCTTAATGCTTCTGCACAGGTAAACCTCTGATTTCTCTAAACCTGAGATGATTATTATACCAGATATTCTAGTGAGTAATGAGTTTGACCATGGTTTTATTTGTTGTTGTTGTTGTTTTGTTTTTTGGAGACAGAGTCTTGCTCAGCCATCCAAGCTGGAGTGCAGTAGTGCAGTCATGGCTAACTATAGCCTCAAACTCCTAGGCTCAAGCAATCCTCCCCCCTCTGCCTCCAGAGTTTTTGGGACTGCAGGTGCACACCAGCATGCCCAGCTAAATTTTTTTTGTTATTTTTTGTAGAGATGGTGTTTTGCCATGTTGTCCAGGCTGGTCTCGGACTCCTGGGCTCAAGCAATTCGCCTACCTCAACTCCCAAAGTGCTAGGATTACAGTGGGTGTGAGCCACTGCACCCAGCCTGACCGTGGTTTTTGTTTTAACAATTCAACTTTTCAATGAATGTTTCTAGAAACCAAATCATATAACCAAAATAAGAAAAGTTCTGGTGAAAACTTTATACTTGCTTTAAATAATTTAACTTAATAACGAATGATTTTTCTTATTGTATTTTAGATATTTGGAATTTTGTTCACATTGGCTCAAGGAAAGCTCACATCAGACTATGGTCCTAAGGCAGGGAACATTTTTCTCTGTGTCTGGATGTTTATAGGCATCATATTAACAGGTAAATTAGGGCGTTTGCCTGGCAAAAGGACTTGTGTCATGTGTTAATTTTCATATATATTGCTTCTCAATAGCTTGACAGAACTCAAGGGGAAAAAAATGAGATAAAAAGCAGGACATTATTTGTTTTCTTCTAAAGACATGAATCTCTTACTTCATTTTGCAGATTTCAAATTCAATACAGTTACTCTGCATAGCAAGCAAAACTGTTATAATAAGAGTAGTAAAGGCTGGGTGTGTTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCAGATTACTTGAGGTGAGGAGTTTGAGACCAGCCTAGCCAACATGGCGAAACCCCGTCTCTACTAAAATTAGCCAGTTGTGGTGGCGCACACGTGTAGCCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATTGCTTGAACCCAGGAGACAGAGGTTGCAGTGAGCCAAGATCACACGAGTGCACTCTAGCTTGGGCAACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGTAAAGACCTGGAGTTGGGAAGACCTGGCCTCAAATTCCGATTCTGTTGCTCAGTGGGAGTGTGACTTTAGACCCGTTGCTTAACCTCTCAAATCCTCCTTTCCTTATTTATATAATAGAGTGTTAAAGCCTGCTTTATAGGGTTACTGTGAGGATTAATTGAAATGGTTCATGAAAAGTTCCTAGTGTCTGGCACCTGGGACGTGCCTAACATGTGTTACTATTGTTATAATGTGGTAGAGATGGTAAGCAGTCAAGTGGTAGTGGTGGAAATAGTATGTGGAATCCTTAGCTAGTGCTTATACTTCTTAGGTATAGTCATCATAGACATGGGCAGGAAAGAAAATAGTGCTCAATCTCCAGAGAAAGAGAATGTCAGAGAATTTTTATCCATAGTTTGCCCATGCACATGGGTGTACAATAGATTTGGAAGCAGAACTTTTTCCAGGTGCATACTTTTAAAATGTCATCATTCCCTAAACATTATAGTATAACAGCTATTTACATTGTATTAGGTATTAGTAATCTAGAGATGGTTTAAGTACATAGGAGGATGTGTGTACGTTATATGTAAATACTTCCCAGGGGCGTCCAATCTTTTGGCTTCTCTGGACCACATTGGAACAAGAAATATCTTGGGCCACACATGAAATACTCTAATACTAATGATAGCTAATGAGCTAAAAAAAAAAAATTGCAAAAAATCTCATAATGTTTTTTAAAAATTTGTGAGTTTGTGTTAGGCCACATTCAAAACTGTCCTGGNNNN
|
pathogenic
| 21,548
|
Assess the variant on chromosome 1, position 212895200, impacting FLVCR1 (FLVCR choline and heme transporter 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
benign
|
TTCAGGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTTTTGATTTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACTGCGCCTGGCTGGGTTGCTTCTTATGGATAAGCAAAGAAAGTGTTTTCTTGAGTTGGAATCTACTAGTAAAGATGCTGTAAATGTTGAAATGACAACAAAGGATTTAGAATATTATATAAACTTAGCTGATGAAGCAGTGGCAGGGTTTGAGAGGATCAACTCCTGTTTTGAGGAAGTTTTGTGGGTAAAATGTTATCAAACAAGTATTGCACACAGAGAGATCTTTCATGAAAGGAAGAGTTGATTAATACGGCAAACTTCGTCACTGTCTTACTTTAAGAAATTGCCACAGCCGCTCCCACCTTTTAGCAACCACCACCCTGATCTGTCAGCAGCCATCAACATCAAGGCAAGACCCTCCACCAGCAAAAAGATAACTTGCAGAAGGCTTGGATAATCATTAGCATTTTTTAGCAGTAAAGTGTTTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGGAATGGCGCCATCTGGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCCACCACCACAACCAGCTAATTTTTGTATTTTAGTAGAGATGGGGGTTTCACTATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCTCAAAGTGCTAGGATTACAGGCATGAGCCACTGAGCCTGGCCAGTAAAGTGTTTTTAAATTAAGGCATGTAGATTGATTTTTTTTTTTAGACATAATGCTATTGCAAACTTTAAATAGACTACAGTATAGTATAAACATAACTTTTTATGCACTGGAAAACCAAAAAATATGTGCAGTGGTGCGATCTCTGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGTCTCAGCCTCCCTAGTAGTTGGGACTACAGGTGCGTGCCGCCACGCCTGGCTAATTTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCGTGTTGGCCGGGATGGTCTCGATCTTCTGACCTTGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGACCCACCACGCCCAGCAATATTCACTCTTTTGTGGTGATCTGGAGCTGAACCCACAATGTCTCTGAGATATACCTGCATTCCCTTCTGCCTAGAATGCCTTCCTCTCCTCTTGTCTGCTTGACAAGTTATTACTCAGTTTTTTCCAGTATCAAGTATGTCTTCTCTGGAAAGCCTTCTCTAATTTCCTTTGGCTGACATAGACTTTTTTTGCTCCCACTTCCCCACCATACCTTGCAATTATCACACACTGTTATACTTGTTTACATGTCAAAGTTTCCCTAGATTGGAGAGTCCTTTAAGAAAAAGAATTACACTTTTCATTTTTGTATCATTGGTTGCTAGCATTCCCGTATTTGTTCAATAATGAATGACTTATTAATTGTTAACAACTTTAGAGAGGTACTATTATTTTTTAGGCTGTTGGGATGCTATTAAATATCATGACACTACAGTGCATTAAATTTGACAATACCAAGAAAGACTTTGAGCTGCTTTTTAAAAAAATCTTCACATAACAGTTTATAGTAACTTGATGCCCCTCTGTTTCAGCATTAATCAAGTCTGATCTGCGAAGACACAACATAAATATAGGAATTACAAATGTTGATGTTAAAGCTGTAAGTAATATTTTTATGATTATACTGTTGAGAAGTATGTATAGAATAAATGTGAAACCATATTTTTTTATTTAGCTATTTTTCTCCCGAGTCAACTGTTGATCTGTTATAATAGGATATGCCAGATGCTATACATTTTTAATCTTCTGATTGTTTTTATAGATACCAGCTGACAGTCCCACAGACCAAGAACCAAAAACGGTTATGTTGTCCAAGCAGTCAGAATCAGCAATTTGAAGAGAAAGGCAAAGTTACTGTCCTGTAGTAATTGGGGACAATGTGATCATCCTTGGAGAGAGATGTGAGCACCAAGGCTGGGTTTGTATGTGGTGGGGGAATAAACACACTTACTTGAAAATTACCATATGAACTCTAAATGCATAATTATTATTTTGCTTAATTGTTAAATTAAGGGAAATTTTCTTAAAATTCTTCTGTTTACATCATGTTAACACTACTGTTTATCTAATTAGTATCCGGTTTTTAGTCTCATATTGTATCTGAAAGTAAGCTTCTTGACGTTTACTTTTTAAAAGTCGATGTTTTTCTTTTTTGTAGAAAATGGAAGCTTAGAATACTTTTTAAAGTGATAATATGGGGTGTTCAGTCCCCATAAGATATAATAGTTCATGCAGTTTATATATTAAAGTATCCAGTGGAACTAAATGTACAATATATTCCTAATTGGCTGCCTTTTTCACTGTGCTGACCAGCTGTTCAAGCCACTTCAGTTTGAGTACAACATACCAACATGACACTACTCACCCACAAAGGACAGCATTGGGATCAGGCTTTCAGATGACCTCTAAGATTTTTCCCATTTATTGTACTCTTGTTACAAAGTACTTTTTAACACATGCAGTCAATGGCTATAAAAACTATTCTGTGTACAGATTCTACCCAGACTTTGGTCTTAGAATTATGTTCTAATTAAGGAGCCTGGTTACAGGTTCATTCTGTCTTGAGTTCTTTTCTGTGCTGCCTTTCTATCATGGATAAATGCTAACGCTGTATTTTTTCACTCCAACTTGAGATAGAGTAGTTTTGTACCCATTGCCTTTTTTTTCTTTTAAACTCTCTTTTTTTTTTTTTCCTGATGTGTAACTTTCTAGTAAGATAATTTCATCATGTATGTTACTGGCTATTTCATGATTTCATGTATCACATCGTATATTTTGCCTTGAAGATTCCTGAAATAAGGAAATCTATAATAACTTCAGATAGCCTACATGTCCCCATTTAGTGGAGACCTCTTGAATGCTATTTGAATTCTGCAGTATCATTTTTATGACCATTCTCCTTTGAGGAATACTATGCCCAGGTACATGCTCTATCAGTGTGCCGGGAGAGTGGATTCTTTTCTTCACTGCAGAGTCATCACACTGTTAGAATAGTCTGCTCTTTTACATGCTCAGGTAGGGAAAATAGGACCAAATATATTTCCACAGTGCCTACCACTGTGTCATGTTTACAGTGAGAGTTTAAATATTGTTGATGTCCTGACTCTGTGAGCTCATAGGGAGTATCTTCATAGTAATGACATTTGATCAGCCATAAAATTTACATTATGTTCATATGCACCCAAAAAAGCTAGTCAGGTAATGAATACCCTTGAAGTGAATAGCAATTTTGATTTAGGCAGTGTGTTAGGCCATCCTTGCATTGCTATAAAGAAATATTTAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCGTGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCCAGGCGCAGTGCTGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAAGTCAGGAGTTCAAAACCAGCCTGGCCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCGCAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCGAATGGCAGAGGTTGCAGTGAGCGAAAATCACACTACTGCACTCCAGCCTGGGAGATAAAGTGAGACTGTCTCAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAACCTGAGGTTGAGCACGATGGCTCACACCTATAG
|
TTCAGGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTTTTGATTTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACTGCGCCTGGCTGGGTTGCTTCTTATGGATAAGCAAAGAAAGTGTTTTCTTGAGTTGGAATCTACTAGTAAAGATGCTGTAAATGTTGAAATGACAACAAAGGATTTAGAATATTATATAAACTTAGCTGATGAAGCAGTGGCAGGGTTTGAGAGGATCAACTCCTGTTTTGAGGAAGTTTTGTGGGTAAAATGTTATCAAACAAGTATTGCACACAGAGAGATCTTTCATGAAAGGAAGAGTTGATTAATACGGCAAACTTCGTCACTGTCTTACTTTAAGAAATTGCCACAGCCGCTCCCACCTTTTAGCAACCACCACCCTGATCTGTCAGCAGCCATCAACATCAAGGCAAGACCCTCCACCAGCAAAAAGATAACTTGCAGAAGGCTTGGATAATCATTAGCATTTTTTAGCAGTAAAGTGTTTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGGAATGGCGCCATCTGGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCCACCACCACAACCAGCTAATTTTTGTATTTTAGTAGAGATGGGGGTTTCACTATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCTCAAAGTGCTAGGATTACAGGCATGAGCCACTGAGCCTGGCCAGTAAAGTGTTTTTAAATTAAGGCATGTAGATTGATTTTTTTTTTTAGACATAATGCTATTGCAAACTTTAAATAGACTACAGTATAGTATAAACATAACTTTTTATGCACTGGAAAACCAAAAAATATGTGCAGTGGTGCGATCTCTGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGTCTCAGCCTCCCTAGTAGTTGGGACTACAGGTGCGTGCCGCCACGCCTGGCTAATTTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCGTGTTGGCCGGGATGGTCTCGATCTTCTGACCTTGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGACCCACCACGCCCAGCAATATTCACTCTTTTGTGGTGATCTGGAGCTGAACCCACAATGTCTCTGAGATATACCTGCATTCCCTTCTGCCTAGAATGCCTTCCTCTCCTCTTGTCTGCTTGACAAGTTATTACTCAGTTTTTTCCAGTATCAAGTATGTCTTCTCTGGAAAGCCTTCTCTAATTTCCTTTGGCTGACATAGACTTTTTTTGCTCCCACTTCCCCACCATACCTTGCAATTATCACACACTGTTATACTTGTTTACATGTCAAAGTTTCCCTAGATTGGAGAGTCCTTTAAGAAAAAGAATTACACTTTTCATTTTTGTATCATTGGTTGCTAGCATTCCCGTATTTGTTCAATAATGAATGACTTATTAATTGTTAACAACTTTAGAGAGGTACTATTATTTTTTAGGCTGTTGGGATGCTATTAAATATCATGACACTACAGTGCATTAAATTTGACAATACCAAGAAAGACTTTGAGCTGCTTTTTAAAAAAATCTTCACATAACAGTTTATAGTAACTTGATGCCCCTCTGTTTCAGCATTAATCAAGTCTGATCTGCGAAGACACAACATAAATATAGGAATTACAAATGTTGATGTTAAAGCTGTAAGTAATATTTTTATGATTATACTGTTGAGAAGTATGTATAGAATAAATGTGAAACCATATTTTTTTATTTAGCTATTTTTCTCCCGAGTCAACTGTTGATCTGTTATAATAGGATATGCCAGATGCTATACATTTTTAATCTTCTGATTGATTGTTTTTATAGATACCAGCTGACAGTCCCACAGACCAAGAACCAAAAACGGTTATGTTGTCCAAGCAGTCAGAATCAGCAATTTGAAGAGAAAGGCAAAGTTACTGTCCTGTAGTAATTGGGGACAATGTGATCATCCTTGGAGAGAGATGTGAGCACCAAGGCTGGGTTTGTATGTGGTGGGGGAATAAACACACTTACTTGAAAATTACCATATGAACTCTAAATGCATAATTATTATTTTGCTTAATTGTTAAATTAAGGGAAATTTTCTTAAAATTCTTCTGTTTACATCATGTTAACACTACTGTTTATCTAATTAGTATCCGGTTTTTAGTCTCATATTGTATCTGAAAGTAAGCTTCTTGACGTTTACTTTTTAAAAGTCGATGTTTTTCTTTTTTGTAGAAAATGGAAGCTTAGAATACTTTTTAAAGTGATAATATGGGGTGTTCAGTCCCCATAAGATATAATAGTTCATGCAGTTTATATATTAAAGTATCCAGTGGAACTAAATGTACAATATATTCCTAATTGGCTGCCTTTTTCACTGTGCTGACCAGCTGTTCAAGCCACTTCAGTTTGAGTACAACATACCAACATGACACTACTCACCCACAAAGGACAGCATTGGGATCAGGCTTTCAGATGACCTCTAAGATTTTTCCCATTTATTGTACTCTTGTTACAAAGTACTTTTTAACACATGCAGTCAATGGCTATAAAAACTATTCTGTGTACAGATTCTACCCAGACTTTGGTCTTAGAATTATGTTCTAATTAAGGAGCCTGGTTACAGGTTCATTCTGTCTTGAGTTCTTTTCTGTGCTGCCTTTCTATCATGGATAAATGCTAACGCTGTATTTTTTCACTCCAACTTGAGATAGAGTAGTTTTGTACCCATTGCCTTTTTTTTCTTTTAAACTCTCTTTTTTTTTTTTTCCTGATGTGTAACTTTCTAGTAAGATAATTTCATCATGTATGTTACTGGCTATTTCATGATTTCATGTATCACATCGTATATTTTGCCTTGAAGATTCCTGAAATAAGGAAATCTATAATAACTTCAGATAGCCTACATGTCCCCATTTAGTGGAGACCTCTTGAATGCTATTTGAATTCTGCAGTATCATTTTTATGACCATTCTCCTTTGAGGAATACTATGCCCAGGTACATGCTCTATCAGTGTGCCGGGAGAGTGGATTCTTTTCTTCACTGCAGAGTCATCACACTGTTAGAATAGTCTGCTCTTTTACATGCTCAGGTAGGGAAAATAGGACCAAATATATTTCCACAGTGCCTACCACTGTGTCATGTTTACAGTGAGAGTTTAAATATTGTTGATGTCCTGACTCTGTGAGCTCATAGGGAGTATCTTCATAGTAATGACATTTGATCAGCCATAAAATTTACATTATGTTCATATGCACCCAAAAAAGCTAGTCAGGTAATGAATACCCTTGAAGTGAATAGCAATTTTGATTTAGGCAGTGTGTTAGGCCATCCTTGCATTGCTATAAAGAAATATTTAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCGTGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCCAGGCGCAGTGCTGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAAGTCAGGAGTTCAAAACCAGCCTGGCCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCGCAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCGAATGGCAGAGGTTGCAGTGAGCGAAAATCACACTACTGCACTCCAGCCTGGGAGATAAAGTGAGACTGTCTCAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAACCTGAGGTTGAGCACGATGGCTCACACCT
|
benign
| 21,552
|
Is the chromosome 1, position 214622237 variant in CENPF (centromere protein F) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Stromme_syndrome']
|
TCGATGTGACTTTTTTTGGGATAGTGATATGGTGGAATGTGAGATTTTTGAAAGAGTTCTTTAGTGTGATGTTTAACTTTGATTCTCTTGGGCAAAGCTATAGGGGGAGGTAACCAAGGACAGGCAAAGAAAAGCCAGTTTTGGAATTCAGAATGAAAGTGAATACTCACATATGTTTAATGGGTTCTAAGAAGGATGCAGAATAAATACTAAGACTTAGCCTATTTTGAATAGATTGGGCATGAGATGGTAGTAGCTTATTCCTTCAATGCTAAGAAGTCGAGCATTAGAACATTCCATCACTGGGTATTAGACTTATGGTTTACTTGACTTGATGAATGTTCTTTGTTGGTATGCAGTGCAACTGTTAACTTCTTGGGATTATGGCTTTATATTCTATCTGAAAATAAATAGCCTTGAGTATATAAGATCTTTAAAGGCCTCTAAAGAGATTCTGTTTCTACAGAAAGCAAGCCAGACTCTTCCACAAGCCACCATGAATCACCGCGACATTGCCCGGCATCAGGCTTCATCATCTGTGTTCTCATGGCAGCAAGAGAAGACCCCAAGTCATCTTTCATCTAATTCTCAAAGAACTCCAATTAGGAGAGATTTCTCTGCATCTTACTTTTCTGGGGAACAAGAGGTGACTCCAAGTCGATCAACTTTGCAAATAGGGAAAAGAGATGCTAATAGCAGTTTCTTTGACAATTCTAGCAGTCCTCATCTTTTGGATCAATTAAAAGCGCAGAATCAAGGTAACATTGAGCTAAGTTAAGTTTAAATTCACTTTGCTTGAGGTAATTTCACAGGTGATTTCAGATATTTTTAATCCCATAAAGTGCTTATGTGTTTTGTTAGGCACATCGGTGTTCAACATCCTAGACTGGTTATGTGAAATATACTGTCTTTTCAATAATGATAAAAGGCATCATAGTGTTGGAATGTAGTTTTATTTGTATTGAAAAGCTGGTGCCTGGAAGCCTCTAAAGTACGTTGAGAGGCTTTGATTTATCTTTCCAGATGCAGGGCGAGTGGGTTGGTTACAGTTTACACTCCCCATGCTTCTCATCTGGCTCCTTTTGTGACCCACAGAACCAGGCTGTGGTCTGACCAGCTTTGGCCAGAGGTTGTGTGTGTGTCTGCAGAACAGCTTTGCTGTGCCCTGCCAGGTTGTCCATATGGGAGCAAACCTGTAACCTTGGCTGCTGTGCCACGCTGCAGCTGACAGCCAAGGGTACCAGGTGGTGTTTTGGAATCTACTCTGTAGAAGATGATAATTTCCAGTGCTGTGATATATTGAAAATCACTGTCAGTGTTCACTGGTGAGAGCTGTCACCTAGCCAATGCCATTGGAACCAATGTTGTGCGTATGTGGGAAAAAAGTGGAAAAAAAATCATTGTTAATTTTGGCAGTATGGGAGGTTCACACTGTCTTGATGTTTACTGGAGGTAAAACTACCAGAGAATATAGGAGGGTGAACTTTTCACTGCTTAGCACTGATTTGCATTGATATGGGCAAAAAACAAATATAGTTTGCTGTTGTGTAAAACTAAATGGTAATTTTAACAAAGGGTGTCATATGTGATGTACTTTTCACAGTCTCAATAAGAAGATAGCGTTCCTGATTTTAGAAAAGCATTCCCCCCACCAAGTTTCTTTGTTAAAATGTAAGAAAATCTGTTTCTCCTGCTTTCTATAGAGTATTTGAATGCAAATGACAATAGAAACTAACTATTGAAATTAAATCCAATTAAAGTAGCTTCTGTATTTAGTGTAAATATTTGTTTCGTCAAAGATTTCAGAAAAGAATAAAACAAATGATAAGTTATGAACATTTTGGGAAAGATATATATGAATTGGAGTGTGATTTTTGTTTGTGGTTCAAGAGCTAAGAAACAAGATTAATGAGTTGGAACTACGCCTGCAAGGACATGAAAAAGAAATGAAAGGCCAAGTGAATAAGTTTCAAGAACTCCAACTCCAACTGGAGAAAGCAAAAGTGGAATTAATTGAAAAAGAGAAAGTTTTGAACAAATGTAGGGATGAACTAGTGAGAACAACAGCACAATACGACCAGGCGTCAACCAAGGTACTTGACTTTTCGTGAATTACTGGAGAAATCTTCATCTTTTCATACAATTATTTAGAAAGAGTATTTTATACATAAGTTTATGAAATGTCAGTAATGTTCTTTGTTAATATATATTAGGTACTCTTGATGCAACTGAACTAGAAAGCTGTTTTAAGTTGGGCAGATCCGGGATCAAGCCTGGTGCCGTACTTTCCCAGCTGAGTGACGTTGGGCAAGTCACTGATCTCTTTTATGTTGCAGGGGGTAATAGAGAATAAAGAAAATGTATATATAGCATCTAGCATGATGTGTGCCACATTAAAATAGGCACTTAATGGCACTTTAAAGGAGTTTTAGGACATTTGATAGGATTTAATTAATCTGCTCTTGGGATCGTATATATAGTTGGTCCATTGTACCCATGAGTTCTGCATTCATGGATTCAACCAACTATGGATCGTAAGTATTTAGGGGGAAAAAAGATCGTATATATAGTTGGTCCATTGTACCCATGAGTTCTGCATTCATGGATTCAACCAACTATGGATCGTAAGTATTTAGGGGGAAAAAAGATCGTATATATAGTTGGTCCATTGTACCCATGAGTTCTGCATTCATGGATTCAACCAACTATGGATCGTAAGTATTTAGGGGGAAAAAGAAAAAGGCCGGGCACCTGTGGTTTACACCCGAATCCCCACACTTTGGGAGGTTGAGACACGCGGATCACTTGAGGCTAGGAGATCAAGACCAGCTAGCCCACATGACAAAACCTTGTCTCTACTACAGGTACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGTCTGAGGCACAAGAATTGTTTAAACCTGGAAGGCAAAGGTTGCAGTGAGCAGAGATTGTGCCACTGCACTCCAGCTTGGGTGACAGGGTGAGATTCTGTCTCAAAGAATGGCTTTGTCTGTACTGATCATATACAGACCTTTTTTTCCTTGTCATTATTTCCTAAACAAATACATTATTACAAATATTTTACATAGCATATACATAGTATTAGGTATTATAAGTAATCTAGAGATGATTTAAAGTGTGTGGGAGGATGTGCATAGGTTATGTGCAAACACTATACCATTTTATATCAGGGACTTGATCATCCTCAGATTTTGGTATCTGCAAGGAGTCCTGGAACCAGTCCTTCATGGATACTGAGGGATGACTGTACACCCACCACTGAATCTTCTTAAGACTCCAACGGAGGCCAAGCTTCTTAGCCTGTTATTTTGTTGTTGTTGTTGTTGTTCTTGTTGTTGCTTTGGTCCCAGCCTACCTCTCTAGCCAGGCTTTTCTTCTCTTTTTTCTATTACTCATTCATTTACTGACTCATTTCACAAGCATGTATTGATATTTGTGCCTGCTATATATTAGGCACTGTTCCAGACCTGGGGCTGGAACAGTGATAAATAGACAAAAATCTCCAGACCTGGGGCTGGAACAGTGATAAACCAACAAAAATCATTGCTTTGTGGAGCTTCATCTTAATAGAGGGAGGCAGAAAATAACAAAAATAAAGTAACATAGATAGTATGGTATATGGTAATAAGTATTGTAGAGAAAAATGAATTATTTGACTTTTAATAAACTCTTTAGATATTTCTGAGGCTTTAGGTAAAAACCATTGTAGTAGACATACTTCTATTATTTGCTTTCTTGGGGCAGGTTCTTTCATTTGTTTACTTAAAACTTTTATTTTAAGATAATCGTAGATTCATATGCAGTTGTACAAAATAATAGCTTGTTAATGTGGTGGGTTGCACTGATTGATTTTCACACATTTGAATGAGCCTTGCATATTTGGAATAAACCCTAATTTCTTACAGTGTATAATTTAAAAAATATATTTCTGAATTTTTTTTTGCTAATGACTTATTAAGGATTTTTTGTGTCTGTATTCATAAAGGATATTGGTTGGCTTTCTTTTTTTCCCCTGCCATCTTTGTTTGATATTTGTATCAGGGTATCC
|
TCGATGTGACTTTTTTTGGGATAGTGATATGGTGGAATGTGAGATTTTTGAAAGAGTTCTTTAGTGTGATGTTTAACTTTGATTCTCTTGGGCAAAGCTATAGGGGGAGGTAACCAAGGACAGGCAAAGAAAAGCCAGTTTTGGAATTCAGAATGAAAGTGAATACTCACATATGTTTAATGGGTTCTAAGAAGGATGCAGAATAAATACTAAGACTTAGCCTATTTTGAATAGATTGGGCATGAGATGGTAGTAGCTTATTCCTTCAATGCTAAGAAGTCGAGCATTAGAACATTCCATCACTGGGTATTAGACTTATGGTTTACTTGACTTGATGAATGTTCTTTGTTGGTATGCAGTGCAACTGTTAACTTCTTGGGATTATGGCTTTATATTCTATCTGAAAATAAATAGCCTTGAGTATATAAGATCTTTAAAGGCCTCTAAAGAGATTCTGTTTCTACAGAAAGCAAGCCAGACTCTTCCACAAGCCACCATGAATCACCGCGACATTGCCCGGCATCAGGCTTCATCATCTGTGTTCTCATGGCAGCAAGAGAAGACCCCAAGTCATCTTTCATCTAATTCTCAAAGAACTCCAATTAGGAGAGATTTCTCTGCATCTTACTTTTCTGGGGAACAAGAGGTGACTCCAAGTCGATCAACTTTGCAAATAGGGAAAAGAGATGCTAATAGCAGTTTCTTTGACAATTCTAGCAGTCCTCATCTTTTGGATCAATTAAAAGCGCAGAATCAAGGTAACATTGAGCTAAGTTAAGTTTAAATTCACTTTGCTTGAGGTAATTTCACAGGTGATTTCAGATATTTTTAATCCCATAAAGTGCTTATGTGTTTTGTTAGGCACATCGGTGTTCAACATCCTAGACTGGTTATGTGAAATATACTGTCTTTTCAATAATGATAAAAGGCATCATAGTGTTGGAATGTAGTTTTATTTGTATTGAAAAGCTGGTGCCTGGAAGCCTCTAAAGTACGTTGAGAGGCTTTGATTTATCTTTCCAGATGCAGGGCGAGTGGGTTGGTTACAGTTTACACTCCCCATGCTTCTCATCTGGCTCCTTTTGTGACCCACAGAACCAGGCTGTGGTCTGACCAGCTTTGGCCAGAGGTTGTGTGTGTGTCTGCAGAACAGCTTTGCTGTGCCCTGCCAGGTTGTCCATATGGGAGCAAACCTGTAACCTTGGCTGCTGTGCCACGCTGCAGCTGACAGCCAAGGGTACCAGGTGGTGTTTTGGAATCTACTCTGTAGAAGATGATAATTTCCAGTGCTGTGATATATTGAAAATCACTGTCAGTGTTCACTGGTGAGAGCTGTCACCTAGCCAATGCCATTGGAACCAATGTTGTGCGTATGTGGGAAAAAAGTGGAAAAAAAATCATTGTTAATTTTGGCAGTATGGGAGGTTCACACTGTCTTGATGTTTACTGGAGGTAAAACTACCAGAGAATATAGGAGGGTGAACTTTTCACTGCTTAGCACTGATTTGCATTGATATGGGCAAAAAACAAATATAGTTTGCTGTTGTGTAAAACTAAATGGTAATTTTAACAAAGGGTGTCATATGTGATGTACTTTTCACAGTCTCAATAAGAAGATAGCGTTCCTGATTTTAGAAAAGCATTCCCCCCACCAAGTTTCTTTGTTAAAATGTAAGAAAATCTGTTTCTCCTGCTTTCTATAGAGTATTTGAATGCAAATGACAATAGAAACTAACTATTGAAATTAAATCCAATTAAAGTAGCTTCTGTATTTAGTGTAAATATTTGTTTCGTCAAAGATTTCAGAAAAGAATAAAACAAATGATAAGTTATGAACATTTTGGGAAAGATATATATGAATTGGAGTGTGATTTTTGTTTGTGGTTCAAGAGCTAAGAAACAAGATTAATGAGTTGGAACTACGCCTGCAAGGACATGAAAAAGAAATGAAAGGCCAAGTGAATAAGTTTCAAGAACTCCAACTCCAACTGGAGAAAGCAAAAGTGGAATTAATTGAAAAAGAGAAAGTTTTGAACAAATGTAGGGATGACTAGTGAGAACAACAGCACAATACGACCAGGCGTCAACCAAGGTACTTGACTTTTCGTGAATTACTGGAGAAATCTTCATCTTTTCATACAATTATTTAGAAAGAGTATTTTATACATAAGTTTATGAAATGTCAGTAATGTTCTTTGTTAATATATATTAGGTACTCTTGATGCAACTGAACTAGAAAGCTGTTTTAAGTTGGGCAGATCCGGGATCAAGCCTGGTGCCGTACTTTCCCAGCTGAGTGACGTTGGGCAAGTCACTGATCTCTTTTATGTTGCAGGGGGTAATAGAGAATAAAGAAAATGTATATATAGCATCTAGCATGATGTGTGCCACATTAAAATAGGCACTTAATGGCACTTTAAAGGAGTTTTAGGACATTTGATAGGATTTAATTAATCTGCTCTTGGGATCGTATATATAGTTGGTCCATTGTACCCATGAGTTCTGCATTCATGGATTCAACCAACTATGGATCGTAAGTATTTAGGGGGAAAAAAGATCGTATATATAGTTGGTCCATTGTACCCATGAGTTCTGCATTCATGGATTCAACCAACTATGGATCGTAAGTATTTAGGGGGAAAAAAGATCGTATATATAGTTGGTCCATTGTACCCATGAGTTCTGCATTCATGGATTCAACCAACTATGGATCGTAAGTATTTAGGGGGAAAAAGAAAAAGGCCGGGCACCTGTGGTTTACACCCGAATCCCCACACTTTGGGAGGTTGAGACACGCGGATCACTTGAGGCTAGGAGATCAAGACCAGCTAGCCCACATGACAAAACCTTGTCTCTACTACAGGTACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGTCTGAGGCACAAGAATTGTTTAAACCTGGAAGGCAAAGGTTGCAGTGAGCAGAGATTGTGCCACTGCACTCCAGCTTGGGTGACAGGGTGAGATTCTGTCTCAAAGAATGGCTTTGTCTGTACTGATCATATACAGACCTTTTTTTCCTTGTCATTATTTCCTAAACAAATACATTATTACAAATATTTTACATAGCATATACATAGTATTAGGTATTATAAGTAATCTAGAGATGATTTAAAGTGTGTGGGAGGATGTGCATAGGTTATGTGCAAACACTATACCATTTTATATCAGGGACTTGATCATCCTCAGATTTTGGTATCTGCAAGGAGTCCTGGAACCAGTCCTTCATGGATACTGAGGGATGACTGTACACCCACCACTGAATCTTCTTAAGACTCCAACGGAGGCCAAGCTTCTTAGCCTGTTATTTTGTTGTTGTTGTTGTTGTTCTTGTTGTTGCTTTGGTCCCAGCCTACCTCTCTAGCCAGGCTTTTCTTCTCTTTTTTCTATTACTCATTCATTTACTGACTCATTTCACAAGCATGTATTGATATTTGTGCCTGCTATATATTAGGCACTGTTCCAGACCTGGGGCTGGAACAGTGATAAATAGACAAAAATCTCCAGACCTGGGGCTGGAACAGTGATAAACCAACAAAAATCATTGCTTTGTGGAGCTTCATCTTAATAGAGGGAGGCAGAAAATAACAAAAATAAAGTAACATAGATAGTATGGTATATGGTAATAAGTATTGTAGAGAAAAATGAATTATTTGACTTTTAATAAACTCTTTAGATATTTCTGAGGCTTTAGGTAAAAACCATTGTAGTAGACATACTTCTATTATTTGCTTTCTTGGGGCAGGTTCTTTCATTTGTTTACTTAAAACTTTTATTTTAAGATAATCGTAGATTCATATGCAGTTGTACAAAATAATAGCTTGTTAATGTGGTGGGTTGCACTGATTGATTTTCACACATTTGAATGAGCCTTGCATATTTGGAATAAACCCTAATTTCTTACAGTGTATAATTTAAAAAATATATTTCTGAATTTTTTTTTGCTAATGACTTATTAAGGATTTTTTGTGTCTGTATTCATAAAGGATATTGGTTGGCTTTCTTTTTTTCCCCTGCCATCTTTGTTTGATATTTGTATCAGGGTATCCN
|
pathogenic
| 21,652
|
Determine if the mutation at chromosome 1, position 214651758 in gene CENPF (centromere protein F) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Stromme_syndrome']
|
CTGAATGATATTTGTGTATTGCGTCTGCTGAAATCTCTTTTGGTGTTGAGTAGCTTGGGAGTGTCCCAAGTGCGTCATTATTGTATTTTATGTATGGGCACTACTGAGAGGAGTAGTTTGGCCTCAGCCCCATACATATGAGTGTGTTAGTTTGCATTGGCTTTATTCATTCATTTATTCATTCTCTAAATAATAAGTGCTAGTAAGGTCAGGGGATAGACTATTGAACCATACCTATCCTGTGTTTCCTGCACTCATGCAGCTTACAGTCTAGACACATAATAAATCATGAAATAGGCAACATGTAACAAATAAGCGGATAAATACTATAAAGGAAACAAATAAGATTCTTTGCTGTGGAATAATTGGGATGTGGGGATATCAGGGTAGGAAACAACCTAATTTAGATAGGGTGGTCAGCAGATTTAGATAGGGTGGTCAGCAGATGTCACTTGCAAGATGACGAGTCAGCTATGCAACGACCAGGCAGTGGTGGGGAGCCTTCTAGGTCTAGAGAGCAGTGTGGTCAAAGCTCTGGGACTAGAAAGATCTTTGTATTTTTTTTAGAAATTGAAAGGAAGCCATTGTGGCTGGAGCCAGATGGAAAATGACATGCACAAAGATTGGAGGGGTAGGAAGGGTATGGAGGGGGTGGGAAAGGTTTGGGGTGGGAATATTCACTTGGCTAGTTCAACATATAGGGAGTATTTAGAAATTATGGGAATGGTAGAAAATGATGGAGAAGAGAAGGCGGCTCAGGGCCTAGCCTGGAGGAACTCTAGCACACAAGGTGAGATGGAGGAAGAAGAGCCAGCAAAGAAGACAGAGAGAAGGCTTGATAAGGCAAACACCCAGGGGGGTCTCATGTTCTGGAAATCAAGAGGAAGGAATGTCTCAAGAAGGAGGGAGTGGCTGGATATAGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGTGAGCTGATAACTTGAGTCCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACTCTGTTTCTACAAAAAAACAGTAAAATTAGCCAGACGTGGTGGCACATACTTGGGAGGCTGAGGTGGGGGATCACCTGAGCCCTGGAGATTGAGGCTGCAGTGAGCCATGATTGTGCCACCGCACTCCAGCCTGGGCAACATAGTGAGACCCTGTCTCAAGAAAACTAAGCCAAACCAACCAACCAACCAAACAACAACAGCAACAACAATAATAACAAAAAACAAAAGAAGGAAGGAGTGGTCAGCAGCCCCAGATACTACTTAGATGTCGATTGAGATGAGCTTAGAAGAATGTGCCTTTAGTTTGCAGCATGGAGGTTGCTGATGCCATGAAAAGCTTTTTTAGGAAGAGCTGGGACGAATTGATTGGAGCAGGTTAAAGAATTGGAGATGAGGAAGTAGACACCACACATACAGAAACACATACAGAGACAGCTACTCAGGGTCAGGCACGGAGAAGACAAATGCTTCCAGGGTTGGAGTTTGGCCAGTTCTTCACAGTGAAGGGATGGGGCAAAAGATTGGAGGGCATTTGGAAGGAAATTCTTATAGTGACAGAACTGGAGTCTAAGCTGGTCAAGGAAGAAAATGCAAGTCCGGAGGGGATTTGGTGTGAAGATGGTAGTGGTTCTGTTGATGAGGTCAGGAATTATTGCAATGGAAGTACTTTAATAAACAAGGTTGGAAGCATAGGAAGGTGTGGTCCCAGAGTGGTTTAATTGAATTCAAGGTTTCAGAGTTTCTGTGGTCTCTGGATATGACCTTGCGAGGTGGTTGGGCTGGAGCAGAGGAAAGTGTTATTGGAGGTGAAGTCACAATTAAAAGTGAATACATTGCTAAGGATTATAGCACTATTCTGTACAGATTTTATCTTGCCCATAAATATTTTTTTTCTACACAGTACACATTATTTCCTAAAAATATTTCCAGGTTCTTAATTATGAGGAGGTGCTATTATGATTTTATTATTTTTCTGTTTAGGATCAATTGAAGGAGCTCACACTAGAAAATAGTGAATTGAAGAAGAGCCTAGATTGCATGCACAAAGACCAGGTGGAAAAGGAAGGGAAAGTGAGAGAGGAAATAGCTGAATATCAGCTACGGCTTCATGAAGCTGAAAAGAAACACCAGGCTTTGCTTTTGGACACAAACAAACAGGTGAAATGTGGGGTTTGGTTACTGGGGGAGCTGGAGAGTGTATTTTGATCATGGTAAGGCTTTTTTTTTTTTCCAAAAAAAATCAATATTCTGGGTTATTACTATGCTATATAATCTTTTAAAAGGTCTCACATTAACTTCACGATCTTTTCCCCAGGTCCCTCTCTTATTTTATCAGTTGATTTTTTTTTTTTTTTTTTGAGATGGGGTCTCTCTCTGTCGCACTGCAAGCTCCGTCTCCCAGGTTTGCACCATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGTGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGATCTTGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCCGGTTGATTTTTTAAAAAGGTATATTTCCATTTTGGAGTAGAATAATAGGAGAGCTGCAAAGTCGAAATAGTCCTTGGAAAGGCAGGGTTTTGTTTTTGTTTTTCTTTTCTTTTTTTTTTTTTTTTTGAGACTGAGCCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGGTTTCACCATGTTGGCCAGGATGGCCTTGAACTCCTGACCTCGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAAACACTGCGCCCAGCTGTTTTTTGTTTTTCTGACTATTTTTTTTTAGCTGTGCCTCCTGGCTAAAGTAACATTTTGGTTTTTTTTGTTTGTTTTGCTCTAGTATGAAGTAGAAATCCAGACATACCGAGAGAAATTGACTTCTAAAGAAGAATGTCTCAGTTCACAGAAGCTGGAGATAGACCTTTTAAAGTCTAGTAAAGAAGAGCTCAATAATTCATTGAAAGCTACTACTCAGATTTTGGAAGAATTGAAGAAAACCAAGGTATGTTCACTTTAATTTGCTTCATGATTTCGAATGGTTTATACAGGTGGTAGTGATTTTAATGGTATAGCATTAAACGTTTTCATTTTCATTTTATGAAAATTTTTGGTAGTCAAAAATGATGTCATTCATCAGTTCTCTGCTGAGTTATCTTTAAAAAAAATCAGTGGGTCATCTACAGTCTCATAGCTTGAATAAGCTATCCATTGCCTCATGCATCCTCTCAAACTAGAGGATGTTAAAGACTTCTTGAGATAGATTTGAAGATCCAGCCACACAGCAGATGAGGGCAGGCCTCTTAAGCTATAGAAAACAGTCTGACGGGCAATTCCAAAATCTTGAATGAGCTGTCTCCAACTTCACTGTCACCATACTCACTTTTCTGTGGCTTACGGGGAGATCAAAGTGTGGCAGAGCACCTTGGTCAGGCAGACGTGTGGATATTCTCCTCTTCCTCTTCACGCAAGGATCATAGAACTTTTTTTTTTTTTTTAGGAACAATGAAGGTGAACCCTAGTCTCAGGATTGCTAGTCTCAAGATGGTACCACTGTAATTCTACCTGGAAAAGGAGGTGTTTTCATTCCTACAGATATTTTTCATAAGATAAATACCCACAGTGTATAGTAATGAACCTGGATAATAAATATCTTCCAGAAAATATTTTACTTAGAAGACGATTATATTTTTTAAATTTTGAGATTAATTGAATATATACAAACAGAAAATTAGGTACAAATTTATTATGTTTATGGCTCTTATACAACTATCAAGGTAAAGGAAATTTACCAATTAAATACAAAGTAGTAAAATTCAAA
|
CTGAATGATATTTGTGTATTGCGTCTGCTGAAATCTCTTTTGGTGTTGAGTAGCTTGGGAGTGTCCCAAGTGCGTCATTATTGTATTTTATGTATGGGCACTACTGAGAGGAGTAGTTTGGCCTCAGCCCCATACATATGAGTGTGTTAGTTTGCATTGGCTTTATTCATTCATTTATTCATTCTCTAAATAATAAGTGCTAGTAAGGTCAGGGGATAGACTATTGAACCATACCTATCCTGTGTTTCCTGCACTCATGCAGCTTACAGTCTAGACACATAATAAATCATGAAATAGGCAACATGTAACAAATAAGCGGATAAATACTATAAAGGAAACAAATAAGATTCTTTGCTGTGGAATAATTGGGATGTGGGGATATCAGGGTAGGAAACAACCTAATTTAGATAGGGTGGTCAGCAGATTTAGATAGGGTGGTCAGCAGATGTCACTTGCAAGATGACGAGTCAGCTATGCAACGACCAGGCAGTGGTGGGGAGCCTTCTAGGTCTAGAGAGCAGTGTGGTCAAAGCTCTGGGACTAGAAAGATCTTTGTATTTTTTTTAGAAATTGAAAGGAAGCCATTGTGGCTGGAGCCAGATGGAAAATGACATGCACAAAGATTGGAGGGGTAGGAAGGGTATGGAGGGGGTGGGAAAGGTTTGGGGTGGGAATATTCACTTGGCTAGTTCAACATATAGGGAGTATTTAGAAATTATGGGAATGGTAGAAAATGATGGAGAAGAGAAGGCGGCTCAGGGCCTAGCCTGGAGGAACTCTAGCACACAAGGTGAGATGGAGGAAGAAGAGCCAGCAAAGAAGACAGAGAGAAGGCTTGATAAGGCAAACACCCAGGGGGGTCTCATGTTCTGGAAATCAAGAGGAAGGAATGTCTCAAGAAGGAGGGAGTGGCTGGATATAGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGTGAGCTGATAACTTGAGTCCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACTCTGTTTCTACAAAAAAACAGTAAAATTAGCCAGACGTGGTGGCACATACTTGGGAGGCTGAGGTGGGGGATCACCTGAGCCCTGGAGATTGAGGCTGCAGTGAGCCATGATTGTGCCACCGCACTCCAGCCTGGGCAACATAGTGAGACCCTGTCTCAAGAAAACTAAGCCAAACCAACCAACCAACCAAACAACAACAGCAACAACAATAATAACAAAAAACAAAAGAAGGAAGGAGTGGTCAGCAGCCCCAGATACTACTTAGATGTCGATTGAGATGAGCTTAGAAGAATGTGCCTTTAGTTTGCAGCATGGAGGTTGCTGATGCCATGAAAAGCTTTTTTAGGAAGAGCTGGGACGAATTGATTGGAGCAGGTTAAAGAATTGGAGATGAGGAAGTAGACACCACACATACAGAAACACATACAGAGACAGCTACTCAGGGTCAGGCACGGAGAAGACAAATGCTTCCAGGGTTGGAGTTTGGCCAGTTCTTCACAGTGAAGGGATGGGGCAAAAGATTGGAGGGCATTTGGAAGGAAATTCTTATAGTGACAGAACTGGAGTCTAAGCTGGTCAAGGAAGAAAATGCAAGTCCGGAGGGGATTTGGTGTGAAGATGGTAGTGGTTCTGTTGATGAGGTCAGGAATTATTGCAATGGAAGTACTTTAATAAACAAGGTTGGAAGCATAGGAAGGTGTGGTCCCAGAGTGGTTTAATTGAATTCAAGGTTTCAGAGTTTCTGTGGTCTCTGGATATGACCTTGCGAGGTGGTTGGGCTGGAGCAGAGGAAAGTGTTATTGGAGGTGAAGTCACAATTAAAAGTGAATACATTGCTAAGGATTATAGCACTATTCTGTACAGATTTTATCTTGCCCATAAATATTTTTTTTCTACACAGTACACATTATTTCCTAAAAATATTTCCAGGTTCTTAATTATGAGGAGGTGCTATTATGATTTTATTATTTTTCTGTTTAGGATCAATTGAAGGAGCTCACACTAGAAAATAGTGAATTGAAGAAGAGCCTTAGATTGCATGCACAAAGACCAGGTGGAAAAGGAAGGGAAAGTGAGAGAGGAAATAGCTGAATATCAGCTACGGCTTCATGAAGCTGAAAAGAAACACCAGGCTTTGCTTTTGGACACAAACAAACAGGTGAAATGTGGGGTTTGGTTACTGGGGGAGCTGGAGAGTGTATTTTGATCATGGTAAGGCTTTTTTTTTTTTCCAAAAAAAATCAATATTCTGGGTTATTACTATGCTATATAATCTTTTAAAAGGTCTCACATTAACTTCACGATCTTTTCCCCAGGTCCCTCTCTTATTTTATCAGTTGATTTTTTTTTTTTTTTTTTGAGATGGGGTCTCTCTCTGTCGCACTGCAAGCTCCGTCTCCCAGGTTTGCACCATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGTGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGATCTTGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCCGGTTGATTTTTTAAAAAGGTATATTTCCATTTTGGAGTAGAATAATAGGAGAGCTGCAAAGTCGAAATAGTCCTTGGAAAGGCAGGGTTTTGTTTTTGTTTTTCTTTTCTTTTTTTTTTTTTTTTTGAGACTGAGCCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGGTTTCACCATGTTGGCCAGGATGGCCTTGAACTCCTGACCTCGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAAACACTGCGCCCAGCTGTTTTTTGTTTTTCTGACTATTTTTTTTTAGCTGTGCCTCCTGGCTAAAGTAACATTTTGGTTTTTTTTGTTTGTTTTGCTCTAGTATGAAGTAGAAATCCAGACATACCGAGAGAAATTGACTTCTAAAGAAGAATGTCTCAGTTCACAGAAGCTGGAGATAGACCTTTTAAAGTCTAGTAAAGAAGAGCTCAATAATTCATTGAAAGCTACTACTCAGATTTTGGAAGAATTGAAGAAAACCAAGGTATGTTCACTTTAATTTGCTTCATGATTTCGAATGGTTTATACAGGTGGTAGTGATTTTAATGGTATAGCATTAAACGTTTTCATTTTCATTTTATGAAAATTTTTGGTAGTCAAAAATGATGTCATTCATCAGTTCTCTGCTGAGTTATCTTTAAAAAAAATCAGTGGGTCATCTACAGTCTCATAGCTTGAATAAGCTATCCATTGCCTCATGCATCCTCTCAAACTAGAGGATGTTAAAGACTTCTTGAGATAGATTTGAAGATCCAGCCACACAGCAGATGAGGGCAGGCCTCTTAAGCTATAGAAAACAGTCTGACGGGCAATTCCAAAATCTTGAATGAGCTGTCTCCAACTTCACTGTCACCATACTCACTTTTCTGTGGCTTACGGGGAGATCAAAGTGTGGCAGAGCACCTTGGTCAGGCAGACGTGTGGATATTCTCCTCTTCCTCTTCACGCAAGGATCATAGAACTTTTTTTTTTTTTTTAGGAACAATGAAGGTGAACCCTAGTCTCAGGATTGCTAGTCTCAAGATGGTACCACTGTAATTCTACCTGGAAAAGGAGGTGTTTTCATTCCTACAGATATTTTTCATAAGATAAATACCCACAGTGTATAGTAATGAACCTGGATAATAAATATCTTCCAGAAAATATTTTACTTAGAAGACGATTATATTTTTTAAATTTTGAGATTAATTGAATATATACAAACAGAAAATTAGGTACAAATTTATTATGTTTATGGCTCTTATACAACTATCAAGGTAAAGGAAATTTACCAATTAAATACAAAGTAGTAAAATTCAA
|
pathogenic
| 21,737
|
Does the chromosome 1 mutation at position 214658833 within gene CENPF (centromere protein F) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
benign
|
CTATAAGAACATATACAGATATATCTCCCCAACCTCTTAAAAAAAAAAATCAAAGAAAGAACACGTCTAAGATTATCTGCTTCACGATGCCCATTGTTAACTAGAGAAGCATCAAGTTGCACATGATGTGTTGCTTTACTTTGGACAGGTACTGTTATGGATACCAAGGTCGATGAATTAACAACTGAGATCAAAGAACTGAAAGAAACTCTTGAAGAAAAAACCAAGGAGGCAGATGAATACTTGGATAAGTACTGTTCCTTGCTTATAAGCCATGAAAAGTTAGAGAAAGCTAAAGAGATGTTAGAGACACAAGTGGCCCATCTGTGTTCACAGCAATCTAAACAAGATTCCCGAGGGTCTCCTTTGCTAGGTCCAGTTGTTCCAGGACCATCTCCAATCCCTTCTGTTACTGAAAAGAGGTTATCATCTGGCCAAAATAAAGCTTCAGGCAAGAGGCAAAGATCCAGTGGAATATGGGAGAATGGTAGAGGACCAACACCTGCTACCCCAGAGAGCTTTTCTAAAAAAAGCAAGAAAGCAGTCATGAGTGGTATTCACCCTGCAGAAGACACGGAAGGTACTGAGTTTGAGCCAGAGGGACTTCCAGAAGTTGTAAAGAAAGGTATGCCTAATTTAAAGACAAAATTATTTGTGTTCTTTTGAAATTCCATATAATGGTTCACATATAAAAAGACAAAAGTATTTGCTTTTTTACATTATTGTGCAATAATCTCATTGACGTTCATAAGCAATAGTCTGCTTTTAAATGGATGAGGCATATGTTTTCCTCTAGGATCTAATTACTTGTGTCACATTAACAAAAGAGCTGGTAGATTGGAAAAATGGCTGTCTAAAATCTGTTTGGAATTTGTTATTTGAATGCTGAAAAAAATTATTAAATTAAGGACTCCCGTCAGCGTTTCCTACCCGTTGGTCATGTCTGACCTAGCTAGCAGGTGAGCTGGAGGGTGCACCCTGTGATGCTGGCCCCCTGACTGGAGCCACTGACTACACTTTGTTTTGTTTTTGTTTTGTTGTTTTAATCTTGGTTTTCCCCCAAGTCTGGCCCAAGGACTGGTGCCATTCTAGGAACTGTTTGTTATTGGTTCCCAACTGAAACAATGTATTGTAATTAAGTAGGAATTTAGAAATTTTCATAGCAACTTGATATTTTTGTAACATCCAAGCACATATCATGTTTTCTATTGATTTGTTCTCATTATATTATACAAAAATATTATTCCACAGCACATTGGAAATTCTTCGAACCCCCTCTGCCCCCAAATATCAAAACTGATGCTTTGCCATTGATGGTTTGAAAAGCATTGTTCTGAGTAACTCTAGCCCAAAAATAGTTATCTATCTCTCACTGGTAATTTTTATATGTAGTTAAAGTGTGAAAAAAACAAAAACAAATGCTGCTTTAGTTAGCCCTGAATGCAGTTCTGGAGTGTGTGTTGATACACTAACTCTTAGTATCCCTGGGATTGACTTTCTTTCCTGGGTCATCCAAAGTCATGTCACTTCCTTCTGTGGAAAGAGACAACGTGAGTGAGTGTGAAATCACCTTTAGAAAGGTCAGTTTCTCTCCTCCCACCTACATGAGAGTGCTGGCCTGAAGTAGCTGTTACCATTTTACATTTCCCCCCTTTCCCTTTCTTTTTTTTTTTATCTTTTATTTTTCCATTATACCCTCCTTTTTTCCCCAACCCAATTTTACAATAAGGCCTGCTGGCATTCTTTAGATCTTAGAAAAATGCAAAATAAAACATCTACATAGAAGATAGAAGCAGAAAAAATTTTTTCTGTGTAGTGTTATTTTCCCCTTCTTCTCCCATTGTTGTTTTCTATGTTTCTAATAAGAGAAAAACCTGTTAAGTTATTTGATTCAATTTGGTGACTCCCAGGGCAACTGTGAAGTGTAATCCATTGACCACAGTGGCTAGGACAAAGTATTTTTTGGAGTTTGCATTATCCTTGTTAAAACCACCTAATGAATATCTTTTCCACTGTAGATAGAATTGGACCTAGCAGTGCTGACAGTTATTTTTTTTGCCCTTAGGGTTTGCTGACATCCCGACAGGAAAGACTAGCCCATATATCCTGCGAAGAACAACCATGGCAACTCGGACCAGCCCCCGCCTGGCTGCACAGAAGTTAGCGCTATCCCCACTGAGTCTCGGCAAAGAAAATCTTGCAGAGTCCTCCAAACCAACAGCTGGTGGCAGCAGATCACAAAAGGTAAACTACTGTCAACATCCGTCTACTGTTTGAGATCCAGAAAATTGCAGTAGTACCTGGGTGAGGATTGGACACTGCACCCCCGATTCAGGAGCGCTTTCAAAAAGTCTGACCTTCTTGGTGTGGTGTAAGTCAGTCAGTAGTGAGCAAGTGACCGGGTGAGCATTACAGTATCAGGGTACATGATCTCATCCTTCAGTCAACAGGCCGCTTATATGTAGTTTGATGGAAAATGGCATTGTTACATCAAAACTCAGTGGATTTCTAAGAAAGTTTCAGGCGTTACTGATGAAGGATTTGAAGAGGTAATTTTCCCTTTCGCCACTGGTATTAGTCATTGTTTGTTTCAAACTTTACTCTCACTTATCTGCCCCCAGCTGCTAATTCTTTATTGTTTTTATTAATCCTTTACTTTCTTAAAAAAAAAAAAAGCACATATTTCAATAGATATCTAAGGAAAGGAACTCTGTTTATAGATCTCTCTATTTTGATTGTTGAGGATACAACAGGATCTTAGTGACTTCTGTGTACCCTACAACATCCCAGAAAATGTTATGTAGAGCATAGAGAATATTTGCTTAACAGATCTTTATTCCTGTTACTATGATCCATACCAGCAGCTGCCATTTAAGTATGCAAAGTATATGCATTTTATTTATCTTTCTCATTTTATTGAACTCTCACAGTAAGTGGTATTATAAAAGAGTGAAGAACGTGAGACTCATAAAGATGTAACCTCCCAGTGTGAACCCCTACTTCCTCTCAACTCCACAGTCTTGATCTTTCTACGATACCAGTGTTTCTCAGACTGGGGACTAGGGGGATATTTTTGGAAGTTGCTGGAATAGCTTCAAAGAGTTTGAACAGTCTGTGATTTTACCTTGATTGCTCACTTGTCAGAGTTTGATCAAGTATGCGAGCTGATAACCTTGAACCAGAAAACAAAGCTTTGAAAGTGTAATAACCCCTATTTGTGTAATGTGATAATTCATAAGTGAGCAAGCACGTTCTTAGGATTTGGGATACCAAATATGAACACATTGGTGGTTACACGTGGGCGATCTAAAGAGTACAATATATTTAGATTTCTTGATCTAAACATCACAACAACAGATTTGCAAATTTCTTTTTGTTGATGTATAAGAGCTATAAGCATTAAGGAATTATACTTAGTAATAAATTTGTTCATCATATACATTATATTAAAATTTTTCTTCAAGTATGAAGAAGAATGCTCTGAGATTTTCTTTCACTAAAGTGGACCCATTTGTTACTCTTATTAGAAATAGTCTACCATTTTGTGCAAATTTTTCTCCCCTCCCCTACCAAATTCTCTCTGTTACTCACATTCGGATTTAACTTTGGCATGCTGCCAACAACAAAATACTGAAGTATATACTGGAGAATATATATTTAATATACTGAATATACTGACTTTCCAATGAACATGAGAACAGCTTCTCTTTTAAGCAACTAGTGCCCCTAAACCGTGGAGCTACCAAGCTTGTCCAAAGCTGTCAACTACAAGATATCCACTGGATACTGAATACAGGAGAAGTCAGGTTTAGGGTCCCGATATGGGCCATACCATTTTCTCAGAAGGGTGACTGGGAGCCACCCTTTCCCAAACCTCAGTAAAAAGTAACATCCATTCCTGTTTGTCTCACACTTCTGGAGATCAAACGAAGTATTTGACTCTCTTAGAAAACCATGACATATAGCTGGTACTCTATGCCTCCACTGTCTTTAGGCAGCTCACTTTATTGTAATCTCTTGTTTAAATATCTGTCTTCTGATTTGCAATCTGAGTTCTGTGAGGTTACTGATTACATCTATAGTTTATGTCTATGCA
|
CTATAAGAACATATACAGATATATCTCCCCAACCTCTTAAAAAAAAAAATCAAAGAAAGAACACGTCTAAGATTATCTGCTTCACGATGCCCATTGTTAACTAGAGAAGCATCAAGTTGCACATGATGTGTTGCTTTACTTTGGACAGGTACTGTTATGGATACCAAGGTCGATGAATTAACAACTGAGATCAAAGAACTGAAAGAAACTCTTGAAGAAAAAACCAAGGAGGCAGATGAATACTTGGATAAGTACTGTTCCTTGCTTATAAGCCATGAAAAGTTAGAGAAAGCTAAAGAGATGTTAGAGACACAAGTGGCCCATCTGTGTTCACAGCAATCTAAACAAGATTCCCGAGGGTCTCCTTTGCTAGGTCCAGTTGTTCCAGGACCATCTCCAATCCCTTCTGTTACTGAAAAGAGGTTATCATCTGGCCAAAATAAAGCTTCAGGCAAGAGGCAAAGATCCAGTGGAATATGGGAGAATGGTAGAGGACCAACACCTGCTACCCCAGAGAGCTTTTCTAAAAAAAGCAAGAAAGCAGTCATGAGTGGTATTCACCCTGCAGAAGACACGGAAGGTACTGAGTTTGAGCCAGAGGGACTTCCAGAAGTTGTAAAGAAAGGTATGCCTAATTTAAAGACAAAATTATTTGTGTTCTTTTGAAATTCCATATAATGGTTCACATATAAAAAGACAAAAGTATTTGCTTTTTTACATTATTGTGCAATAATCTCATTGACGTTCATAAGCAATAGTCTGCTTTTAAATGGATGAGGCATATGTTTTCCTCTAGGATCTAATTACTTGTGTCACATTAACAAAAGAGCTGGTAGATTGGAAAAATGGCTGTCTAAAATCTGTTTGGAATTTGTTATTTGAATGCTGAAAAAAATTATTAAATTAAGGACTCCCGTCAGCGTTTCCTACCCGTTGGTCATGTCTGACCTAGCTAGCAGGTGAGCTGGAGGGTGCACCCTGTGATGCTGGCCCCCTGACTGGAGCCACTGACTACACTTTGTTTTGTTTTTGTTTTGTTGTTTTAATCTTGGTTTTCCCCCAAGTCTGGCCCAAGGACTGGTGCCATTCTAGGAACTGTTTGTTATTGGTTCCCAACTGAAACAATGTATTGTAATTAAGTAGGAATTTAGAAATTTTCATAGCAACTTGATATTTTTGTAACATCCAAGCACATATCATGTTTTCTATTGATTTGTTCTCATTATATTATACAAAAATATTATTCCACAGCACATTGGAAATTCTTCGAACCCCCTCTGCCCCCAAATATCAAAACTGATGCTTTGCCATTGATGGTTTGAAAAGCATTGTTCTGAGTAACTCTAGCCCAAAAATAGTTATCTATCTCTCACTGGTAATTTTTATATGTAGTTAAAGTGTGAAAAAAACAAAAACAAATGCTGCTTTAGTTAGCCCTGAATGCAGTTCTGGAGTGTGTGTTGATACACTAACTCTTAGTATCCCTGGGATTGACTTTCTTTCCTGGGTCATCCAAAGTCATGTCACTTCCTTCTGTGGAAAGAGACAACGTGAGTGAGTGTGAAATCACCTTTAGAAAGGTCAGTTTCTCTCCTCCCACCTACATGAGAGTGCTGGCCTGAAGTAGCTGTTACCATTTTACATTTCCCCCCTTTCCCTTTCTTTTTTTTTTTATCTTTTATTTTTCCATTATACCCTCCTTTTTTCCCCAACCCAATTTTACAATAAGGCCTGCTGGCATTCTTTAGATCTTAGAAAAATGCAAAATAAAACATCTACATAGAAGATAGAAGCAGAAAAAATTTTTTCTGTGTAGTGTTATTTTCCCCTTCTTCTCCCATTGTTGTTTTCTATGTTTCTAATAAGAGAAAAACCTGTTAAGTTATTTGATTCAATTTGGTGACTCCCAGGGCAACTGTGAAGTGTAATCCATTGACCACAGTGGCTAGGACAAAGTATTTTTTGGAGTTTGCATTATCCTTGTTAAAACCACCTAATGAATATCTTTTCCACTGTAGATAGAATTGGACCTAGCAGTGCTGACAGTTATTTTTTTTTGCCCTTAGGGTTTGCTGACATCCCGACAGGAAAGACTAGCCCATATATCCTGCGAAGAACAACCATGGCAACTCGGACCAGCCCCCGCCTGGCTGCACAGAAGTTAGCGCTATCCCCACTGAGTCTCGGCAAAGAAAATCTTGCAGAGTCCTCCAAACCAACAGCTGGTGGCAGCAGATCACAAAAGGTAAACTACTGTCAACATCCGTCTACTGTTTGAGATCCAGAAAATTGCAGTAGTACCTGGGTGAGGATTGGACACTGCACCCCCGATTCAGGAGCGCTTTCAAAAAGTCTGACCTTCTTGGTGTGGTGTAAGTCAGTCAGTAGTGAGCAAGTGACCGGGTGAGCATTACAGTATCAGGGTACATGATCTCATCCTTCAGTCAACAGGCCGCTTATATGTAGTTTGATGGAAAATGGCATTGTTACATCAAAACTCAGTGGATTTCTAAGAAAGTTTCAGGCGTTACTGATGAAGGATTTGAAGAGGTAATTTTCCCTTTCGCCACTGGTATTAGTCATTGTTTGTTTCAAACTTTACTCTCACTTATCTGCCCCCAGCTGCTAATTCTTTATTGTTTTTATTAATCCTTTACTTTCTTAAAAAAAAAAAAAGCACATATTTCAATAGATATCTAAGGAAAGGAACTCTGTTTATAGATCTCTCTATTTTGATTGTTGAGGATACAACAGGATCTTAGTGACTTCTGTGTACCCTACAACATCCCAGAAAATGTTATGTAGAGCATAGAGAATATTTGCTTAACAGATCTTTATTCCTGTTACTATGATCCATACCAGCAGCTGCCATTTAAGTATGCAAAGTATATGCATTTTATTTATCTTTCTCATTTTATTGAACTCTCACAGTAAGTGGTATTATAAAAGAGTGAAGAACGTGAGACTCATAAAGATGTAACCTCCCAGTGTGAACCCCTACTTCCTCTCAACTCCACAGTCTTGATCTTTCTACGATACCAGTGTTTCTCAGACTGGGGACTAGGGGGATATTTTTGGAAGTTGCTGGAATAGCTTCAAAGAGTTTGAACAGTCTGTGATTTTACCTTGATTGCTCACTTGTCAGAGTTTGATCAAGTATGCGAGCTGATAACCTTGAACCAGAAAACAAAGCTTTGAAAGTGTAATAACCCCTATTTGTGTAATGTGATAATTCATAAGTGAGCAAGCACGTTCTTAGGATTTGGGATACCAAATATGAACACATTGGTGGTTACACGTGGGCGATCTAAAGAGTACAATATATTTAGATTTCTTGATCTAAACATCACAACAACAGATTTGCAAATTTCTTTTTGTTGATGTATAAGAGCTATAAGCATTAAGGAATTATACTTAGTAATAAATTTGTTCATCATATACATTATATTAAAATTTTTCTTCAAGTATGAAGAAGAATGCTCTGAGATTTTCTTTCACTAAAGTGGACCCATTTGTTACTCTTATTAGAAATAGTCTACCATTTTGTGCAAATTTTTCTCCCCTCCCCTACCAAATTCTCTCTGTTACTCACATTCGGATTTAACTTTGGCATGCTGCCAACAACAAAATACTGAAGTATATACTGGAGAATATATATTTAATATACTGAATATACTGACTTTCCAATGAACATGAGAACAGCTTCTCTTTTAAGCAACTAGTGCCCCTAAACCGTGGAGCTACCAAGCTTGTCCAAAGCTGTCAACTACAAGATATCCACTGGATACTGAATACAGGAGAAGTCAGGTTTAGGGTCCCGATATGGGCCATACCATTTTCTCAGAAGGGTGACTGGGAGCCACCCTTTCCCAAACCTCAGTAAAAAGTAACATCCATTCCTGTTTGTCTCACACTTCTGGAGATCAAACGAAGTATTTGACTCTCTTAGAAAACCATGACATATAGCTGGTACTCTATGCCTCCACTGTCTTTAGGCAGCTCACTTTATTGTAATCTCTTGTTTAAATATCTGTCTTCTGATTTGCAATCTGAGTTCTGTGAGGTTACTGATTACATCTATAGTTTATGTCTATGC
|
benign
| 21,752
|
A genetic variant at chromosome 1, position 215628929, affecting gene USH2A (usherin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Retinitis_pigmentosa_39']
|
TATTATGTTGAATGTATAGCAATTGCTGTTTTGCATGTCAAAAATGATCAGTTAGCAATTCATTGTTTCAACCAAATATAATTATCCCTGCCTTTTAAAAACTTTAGATCTGAAATGGACTCATGTAGTTGAGGTTACAACAACATCAAACAGCCTGTGATTTTAAAATGCATATTATATATATGTATATATTATACAATCATTCTGAACAGGCCAGAAGGATGGTACATTTTTTTATATAGTGTTAGGGAACCTGGGTCCAGCGAACTCCCTTTATTATTTGCTATTAGTCAAGAAAGGCTTCATGGAAGTCATCAACTTTTCAGTGAAGGAAAAGTGAGAACTTGGAGGAGAAAGATGAGAGCAAATCCAAAAACAGAAGCAGATGATTGAAAGAAGTGGAGGTGAATAATTTTACCCCAGAGGAGTAAACACAGGAGCTAACTTCCTAGCTGGTTATGTTTCTTTTCTTTTCTTTCTCTCCCTCCCTCCCTCCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTTTTTCCTTTTTTTCTTTTTTCAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGGGCCATCTCAGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCACCACCGCGCCCAGCTAATTTTTGTATTTTTGGTAGAGACGAGGTTTCACCATGTTGGTCAGGCTGGTCTCTATCTAACTCTGGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACTGTGCCTGGCCTATCTGTTTATTTTCTAACAGGCCCAGTGGAATGGTAGGTACTGCAGCGGGCATCTAGGAAGTTAGCACAATGAAATTTGATAGTTGGCAAAAATTCTAGGATTTTTGTTATTGTAGCCGCTCAGAGACTGATAATAAATGTTATATCACGAAGAGGTTACCTTTCAAAGAGCCAATGATTTGTACCCACTGGACTGAAATTATGAAAGATGAAGCTTATAAATAGTAACACCCTCATTTGTCATCATTTCCTAAGGTTTTGGAAAGCAACCATGTTCACCTGTTGATACAAAATATTCTTTTTGCGTCTACCCATACACCAATAGGAAAAGGCAAAACAAAAAAAGTACCTTTTTGTTTTAGTAAAACAAGTGCTTGTATTTTATGCCTTGTTTTAGGCCCATTCCAATGTTTCCTGTCATCTGCTCCAAGTATATGAAGTATAACCTGTTTGCTGCTTATTTATTTATTTATTTTGAGATGGAGTCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGGTCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCCCCCTAGTAGCTGGGATTACAGGTGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGTCCTCAGGTGATCCGCCCACCTCGGCCTCCCCAAGTGCTGGGATTACAGGCATGAGCCACCACGGCTAGCCAATAAGCATTTATTTTTAAGCATCTATTGCATACCAGAAGAACAAGACAAAGTTTCTACCCTGCTTATCAAACAACTGAAGTAACATTAGTAAACCGGTTGTTACTACCTCACTGGCTAAGTGCTCAGAGGCGAGTGCCATGGGGCAGCATTCGGTGAAGTACAGGCAGCTCTGTACCAATATTTTTTCTGGGATATTTAGCAAAGGCCCTGTATGAGGAAACCAACTCACCAGTCCACTGTTGTGGCCCATGATGGCTTCCCACAGTGAGTTGTCCATCAAGACTTTCTTGTCTTGAATGTCCATGAGCTGGCTGACGCTGCGGTGAAGAGAACCCTGGGAGTAGGTTAGGCTGGTTTGGTTTTGACTCGGGATGCGCAGGACACATGCACTCCGGTTGCTGCGGATACTCACAGGTGTCCCAGACCGGGGAATTTTGGTATCGGCTAACCCCTGAGAAGGAAGTTGCTGTGAGTATTTCACATATAAAGAATATGGGCTTGAAATATGACAGAGAATTGTGTCTCACACATTGTCAGTGAAGGGAATGACTGTCTCCTGACAATTGTCACATTGTCAATGAAGGGAACAACTGTCACCTACAGAATTTAGCAGCTATGAGCACCCACAACACGGTGACCCTGGGTTTCTTGGTAAGAAGGATGAGATGATGAGCTAATACTCAAGTTAGGTGGCCAGTGTTTTCGGCACCTAGAGAGCTCATGCACTGGTGCTCTGGCTGTTGTTCCCTGTGGGGCAAGGGCTTGCTGCATTGCAAAGTGGTGGGGCAAGGCAGACGGATGATGGGTGAACAAGGTATCTTCTTCATACATGTCAGCACAGAGCCTCCCTCTTGAGAACACTCCTCCCCCAGAACAGCCAAAGATAACAATATTATTTCATGGTGGTCCACTATGTGAGCTCCGTTTGTCTTTCACTTTAAAAGTCCTGGATTTGTGTAGGGAAATTGACTCCTCCCTCCCTCATTTCTCATTCCATATTCCTCCATTTCTTATAGGATTCCAGCCTCCAAATTACATCAGGTCTGATATTAACATCAGAGAGAAAAAGTCACTACATAATTTAGACCTAGAACGCGCCGTAAGATAAACTATAGTTGCTCTAAATATCTGAGGGCTCTGATTTAGCTGGTCCAATCAATGAAATGTTTCTGCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTAATTTTTGGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCATTTCTTTTCTTTTTTCAGTAGAGTTTTCACTCATGTTGTTCAGCTTTCCAAGGAATGGATATATGGAAGTCATCAATGATCTGTTCCTGCTTTTCACTGTGCAGTCAACACACCATGCAAAAGATCATGCATTCATGCAGCACACAGAGGTACCTCAAAGTGCATGGTGTAACTTTTTAGGGTGACATTGCTTGACACATCAGATATATCAGCCACAGAGTCAAACTGAGAACAAATGGCAGCATCAGTCCATGTTTGGAACAGTTTTAAACACATTCCTTGCATTTCTCCAATGACAGCATTATCATACCCATATTTAATACTGCTCTGATGTACATATATATCCTAGGATACATACCTGCATATGTATATATGTGTGTGTATATATATGTGTGTGTGTATATATACATATATATGTGAATATATATGTATGTGTATGTGTGTGTGTATATATATATATATATATATATATATATATATATATATATATATGAGAGAGAGAAAGTTGGGTTTTGCAACTAAAACTTCATAGTGAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCCAGCAATTTGGGAGGCCAAGACGGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAGTCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGCTGGAGGTTGCAGTGAGTCGAGATCATGCCACTGCACTCCAGTCTGGATGACAGAAGACTCTGTCTCAAAAACAAACAAATTAAAAAAAAAAAAACCTTGGTGAGTGGAAATTAATTGATTAGTGTCTAAGGTAAGTACCACTGCCAGTATTTGTTTAGTATTGCAGGGAATGAAAGGATCTTCAAACCAGTAA
|
TATTATGTTGAATGTATAGCAATTGCTGTTTTGCATGTCAAAAATGATCAGTTAGCAATTCATTGTTTCAACCAAATATAATTATCCCTGCCTTTTAAAAACTTTAGATCTGAAATGGACTCATGTAGTTGAGGTTACAACAACATCAAACAGCCTGTGATTTTAAAATGCATATTATATATATGTATATATTATACAATCATTCTGAACAGGCCAGAAGGATGGTACATTTTTTTATATAGTGTTAGGGAACCTGGGTCCAGCGAACTCCCTTTATTATTTGCTATTAGTCAAGAAAGGCTTCATGGAAGTCATCAACTTTTCAGTGAAGGAAAAGTGAGAACTTGGAGGAGAAAGATGAGAGCAAATCCAAAAACAGAAGCAGATGATTGAAAGAAGTGGAGGTGAATAATTTTACCCCAGAGGAGTAAACACAGGAGCTAACTTCCTAGCTGGTTATGTTTCTTTTCTTTTCTTTCTCTCCCTCCCTCCCTCCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTTTTTCCTTTTTTTCTTTTTTCAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGGGCCATCTCAGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCACCACCGCGCCCAGCTAATTTTTGTATTTTTGGTAGAGACGAGGTTTCACCATGTTGGTCAGGCTGGTCTCTATCTAACTCTGGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACTGTGCCTGGCCTATCTGTTTATTTTCTAACAGGCCCAGTGGAATGGTAGGTACTGCAGCGGGCATCTAGGAAGTTAGCACAATGAAATTTGATAGTTGGCAAAAATTCTAGGATTTTTGTTATTGTAGCCGCTCAGAGACTGATAATAAATGTTATATCACGAAGAGGTTACCTTTCAAAGAGCCAATGATTTGTACCCACTGGACTGAAATTATGAAAGATGAAGCTTATAAATAGTAACACCCTCATTTGTCATCATTTCCTAAGGTTTTGGAAAGCAACCATGTTCACCTGTTGATACAAAATATTCTTTTTGCGTCTACCCATACACCAATAGGAAAAGGCAAAACAAAAAAAGTACCTTTTTGTTTTAGTAAAACAAGTGCTTGTATTTTATGCCTTGTTTTAGGCCCATTCCAATGTTTCCTGTCATCTGCTCCAAGTATATGAAGTATAACCTGTTTGCTGCTTATTTATTTATTTATTTTGAGATGGAGTCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGGTCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCCCCCTAGTAGCTGGGATTACAGGTGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGTCCTCAGGTGATCCGCCCACCTCGGCCTCCCCAAGTGCTGGGATTACAGGCATGAGCCACCACGGCTAGCCAATAAGCATTTATTTTTAAGCATCTATTGCATACCAGAAGAACAAGACAAAGTTTCTACCCTGCTTATCAAACAACTGAAGTAACATTAGTAAACCGGTTGTTACTACCTCACTGGCTAAGTGCTCAGAGGCGAGTGCCATGGGGCAGCATTCGGTGAAGTACAGGCAGCTCTGTACCAATATTTTTTCTGGGATATTTAGCAAAGGCCCTGTATGAGGAAACCAACTCACCAGTCCACTGTTGTGGCCCATGATGGCTTCCCACAGTGAGTTGTCCATCAAGACTTTCTTGTCTTGAATGTCCATGAGCTGGCTGACGCTGCGGTGAAGAGAACCCTGGGAGTAGGTAGGCTGGTTTGGTTTTGACTCGGGATGCGCAGGACACATGCACTCCGGTTGCTGCGGATACTCACAGGTGTCCCAGACCGGGGAATTTTGGTATCGGCTAACCCCTGAGAAGGAAGTTGCTGTGAGTATTTCACATATAAAGAATATGGGCTTGAAATATGACAGAGAATTGTGTCTCACACATTGTCAGTGAAGGGAATGACTGTCTCCTGACAATTGTCACATTGTCAATGAAGGGAACAACTGTCACCTACAGAATTTAGCAGCTATGAGCACCCACAACACGGTGACCCTGGGTTTCTTGGTAAGAAGGATGAGATGATGAGCTAATACTCAAGTTAGGTGGCCAGTGTTTTCGGCACCTAGAGAGCTCATGCACTGGTGCTCTGGCTGTTGTTCCCTGTGGGGCAAGGGCTTGCTGCATTGCAAAGTGGTGGGGCAAGGCAGACGGATGATGGGTGAACAAGGTATCTTCTTCATACATGTCAGCACAGAGCCTCCCTCTTGAGAACACTCCTCCCCCAGAACAGCCAAAGATAACAATATTATTTCATGGTGGTCCACTATGTGAGCTCCGTTTGTCTTTCACTTTAAAAGTCCTGGATTTGTGTAGGGAAATTGACTCCTCCCTCCCTCATTTCTCATTCCATATTCCTCCATTTCTTATAGGATTCCAGCCTCCAAATTACATCAGGTCTGATATTAACATCAGAGAGAAAAAGTCACTACATAATTTAGACCTAGAACGCGCCGTAAGATAAACTATAGTTGCTCTAAATATCTGAGGGCTCTGATTTAGCTGGTCCAATCAATGAAATGTTTCTGCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTAATTTTTGGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCATTTCTTTTCTTTTTTCAGTAGAGTTTTCACTCATGTTGTTCAGCTTTCCAAGGAATGGATATATGGAAGTCATCAATGATCTGTTCCTGCTTTTCACTGTGCAGTCAACACACCATGCAAAAGATCATGCATTCATGCAGCACACAGAGGTACCTCAAAGTGCATGGTGTAACTTTTTAGGGTGACATTGCTTGACACATCAGATATATCAGCCACAGAGTCAAACTGAGAACAAATGGCAGCATCAGTCCATGTTTGGAACAGTTTTAAACACATTCCTTGCATTTCTCCAATGACAGCATTATCATACCCATATTTAATACTGCTCTGATGTACATATATATCCTAGGATACATACCTGCATATGTATATATGTGTGTGTATATATATGTGTGTGTGTATATATACATATATATGTGAATATATATGTATGTGTATGTGTGTGTGTATATATATATATATATATATATATATATATATATATATATATATGAGAGAGAGAAAGTTGGGTTTTGCAACTAAAACTTCATAGTGAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCCAGCAATTTGGGAGGCCAAGACGGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAGTCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGCTGGAGGTTGCAGTGAGTCGAGATCATGCCACTGCACTCCAGTCTGGATGACAGAAGACTCTGTCTCAAAAACAAACAAATTAAAAAAAAAAAAACCTTGGTGAGTGGAAATTAATTGATTAGTGTCTAAGGTAAGTACCACTGCCAGTATTTGTTTAGTATTGCAGGGAATGAAAGGATCTTCAAACCAGTAAN
|
pathogenic
| 21,772
|
A genetic variant on chromosome 1, position 215628952, affects the gene USH2A (usherin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2', 'Usher_syndrome_type_2A']
|
TGCTGTTTTGCATGTCAAAAATGATCAGTTAGCAATTCATTGTTTCAACCAAATATAATTATCCCTGCCTTTTAAAAACTTTAGATCTGAAATGGACTCATGTAGTTGAGGTTACAACAACATCAAACAGCCTGTGATTTTAAAATGCATATTATATATATGTATATATTATACAATCATTCTGAACAGGCCAGAAGGATGGTACATTTTTTTATATAGTGTTAGGGAACCTGGGTCCAGCGAACTCCCTTTATTATTTGCTATTAGTCAAGAAAGGCTTCATGGAAGTCATCAACTTTTCAGTGAAGGAAAAGTGAGAACTTGGAGGAGAAAGATGAGAGCAAATCCAAAAACAGAAGCAGATGATTGAAAGAAGTGGAGGTGAATAATTTTACCCCAGAGGAGTAAACACAGGAGCTAACTTCCTAGCTGGTTATGTTTCTTTTCTTTTCTTTCTCTCCCTCCCTCCCTCCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTTTTTCCTTTTTTTCTTTTTTCAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGGGCCATCTCAGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCACCACCGCGCCCAGCTAATTTTTGTATTTTTGGTAGAGACGAGGTTTCACCATGTTGGTCAGGCTGGTCTCTATCTAACTCTGGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACTGTGCCTGGCCTATCTGTTTATTTTCTAACAGGCCCAGTGGAATGGTAGGTACTGCAGCGGGCATCTAGGAAGTTAGCACAATGAAATTTGATAGTTGGCAAAAATTCTAGGATTTTTGTTATTGTAGCCGCTCAGAGACTGATAATAAATGTTATATCACGAAGAGGTTACCTTTCAAAGAGCCAATGATTTGTACCCACTGGACTGAAATTATGAAAGATGAAGCTTATAAATAGTAACACCCTCATTTGTCATCATTTCCTAAGGTTTTGGAAAGCAACCATGTTCACCTGTTGATACAAAATATTCTTTTTGCGTCTACCCATACACCAATAGGAAAAGGCAAAACAAAAAAAGTACCTTTTTGTTTTAGTAAAACAAGTGCTTGTATTTTATGCCTTGTTTTAGGCCCATTCCAATGTTTCCTGTCATCTGCTCCAAGTATATGAAGTATAACCTGTTTGCTGCTTATTTATTTATTTATTTTGAGATGGAGTCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGGTCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCCCCCTAGTAGCTGGGATTACAGGTGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGTCCTCAGGTGATCCGCCCACCTCGGCCTCCCCAAGTGCTGGGATTACAGGCATGAGCCACCACGGCTAGCCAATAAGCATTTATTTTTAAGCATCTATTGCATACCAGAAGAACAAGACAAAGTTTCTACCCTGCTTATCAAACAACTGAAGTAACATTAGTAAACCGGTTGTTACTACCTCACTGGCTAAGTGCTCAGAGGCGAGTGCCATGGGGCAGCATTCGGTGAAGTACAGGCAGCTCTGTACCAATATTTTTTCTGGGATATTTAGCAAAGGCCCTGTATGAGGAAACCAACTCACCAGTCCACTGTTGTGGCCCATGATGGCTTCCCACAGTGAGTTGTCCATCAAGACTTTCTTGTCTTGAATGTCCATGAGCTGGCTGACGCTGCGGTGAAGAGAACCCTGGGAGTAGGTTAGGCTGGTTTGGTTTTGACTCGGGATGCGCAGGACACATGCACTCCGGTTGCTGCGGATACTCACAGGTGTCCCAGACCGGGGAATTTTGGTATCGGCTAACCCCTGAGAAGGAAGTTGCTGTGAGTATTTCACATATAAAGAATATGGGCTTGAAATATGACAGAGAATTGTGTCTCACACATTGTCAGTGAAGGGAATGACTGTCTCCTGACAATTGTCACATTGTCAATGAAGGGAACAACTGTCACCTACAGAATTTAGCAGCTATGAGCACCCACAACACGGTGACCCTGGGTTTCTTGGTAAGAAGGATGAGATGATGAGCTAATACTCAAGTTAGGTGGCCAGTGTTTTCGGCACCTAGAGAGCTCATGCACTGGTGCTCTGGCTGTTGTTCCCTGTGGGGCAAGGGCTTGCTGCATTGCAAAGTGGTGGGGCAAGGCAGACGGATGATGGGTGAACAAGGTATCTTCTTCATACATGTCAGCACAGAGCCTCCCTCTTGAGAACACTCCTCCCCCAGAACAGCCAAAGATAACAATATTATTTCATGGTGGTCCACTATGTGAGCTCCGTTTGTCTTTCACTTTAAAAGTCCTGGATTTGTGTAGGGAAATTGACTCCTCCCTCCCTCATTTCTCATTCCATATTCCTCCATTTCTTATAGGATTCCAGCCTCCAAATTACATCAGGTCTGATATTAACATCAGAGAGAAAAAGTCACTACATAATTTAGACCTAGAACGCGCCGTAAGATAAACTATAGTTGCTCTAAATATCTGAGGGCTCTGATTTAGCTGGTCCAATCAATGAAATGTTTCTGCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTAATTTTTGGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCATTTCTTTTCTTTTTTCAGTAGAGTTTTCACTCATGTTGTTCAGCTTTCCAAGGAATGGATATATGGAAGTCATCAATGATCTGTTCCTGCTTTTCACTGTGCAGTCAACACACCATGCAAAAGATCATGCATTCATGCAGCACACAGAGGTACCTCAAAGTGCATGGTGTAACTTTTTAGGGTGACATTGCTTGACACATCAGATATATCAGCCACAGAGTCAAACTGAGAACAAATGGCAGCATCAGTCCATGTTTGGAACAGTTTTAAACACATTCCTTGCATTTCTCCAATGACAGCATTATCATACCCATATTTAATACTGCTCTGATGTACATATATATCCTAGGATACATACCTGCATATGTATATATGTGTGTGTATATATATGTGTGTGTGTATATATACATATATATGTGAATATATATGTATGTGTATGTGTGTGTGTATATATATATATATATATATATATATATATATATATATATATATGAGAGAGAGAAAGTTGGGTTTTGCAACTAAAACTTCATAGTGAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCCAGCAATTTGGGAGGCCAAGACGGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAGTCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGCTGGAGGTTGCAGTGAGTCGAGATCATGCCACTGCACTCCAGTCTGGATGACAGAAGACTCTGTCTCAAAAACAAACAAATTAAAAAAAAAAAAACCTTGGTGAGTGGAAATTAATTGATTAGTGTCTAAGGTAAGTACCACTGCCAGTATTTGTTTAGTATTGCAGGGAATGAAAGGATCTTCAAACCAGTAATTAAATAACAAGCAAAACTTAAA
|
TGCTGTTTTGCATGTCAAAAATGATCAGTTAGCAATTCATTGTTTCAACCAAATATAATTATCCCTGCCTTTTAAAAACTTTAGATCTGAAATGGACTCATGTAGTTGAGGTTACAACAACATCAAACAGCCTGTGATTTTAAAATGCATATTATATATATGTATATATTATACAATCATTCTGAACAGGCCAGAAGGATGGTACATTTTTTTATATAGTGTTAGGGAACCTGGGTCCAGCGAACTCCCTTTATTATTTGCTATTAGTCAAGAAAGGCTTCATGGAAGTCATCAACTTTTCAGTGAAGGAAAAGTGAGAACTTGGAGGAGAAAGATGAGAGCAAATCCAAAAACAGAAGCAGATGATTGAAAGAAGTGGAGGTGAATAATTTTACCCCAGAGGAGTAAACACAGGAGCTAACTTCCTAGCTGGTTATGTTTCTTTTCTTTTCTTTCTCTCCCTCCCTCCCTCCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTTTTTCCTTTTTTTCTTTTTTCAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGGGCCATCTCAGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCACCACCGCGCCCAGCTAATTTTTGTATTTTTGGTAGAGACGAGGTTTCACCATGTTGGTCAGGCTGGTCTCTATCTAACTCTGGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACTGTGCCTGGCCTATCTGTTTATTTTCTAACAGGCCCAGTGGAATGGTAGGTACTGCAGCGGGCATCTAGGAAGTTAGCACAATGAAATTTGATAGTTGGCAAAAATTCTAGGATTTTTGTTATTGTAGCCGCTCAGAGACTGATAATAAATGTTATATCACGAAGAGGTTACCTTTCAAAGAGCCAATGATTTGTACCCACTGGACTGAAATTATGAAAGATGAAGCTTATAAATAGTAACACCCTCATTTGTCATCATTTCCTAAGGTTTTGGAAAGCAACCATGTTCACCTGTTGATACAAAATATTCTTTTTGCGTCTACCCATACACCAATAGGAAAAGGCAAAACAAAAAAAGTACCTTTTTGTTTTAGTAAAACAAGTGCTTGTATTTTATGCCTTGTTTTAGGCCCATTCCAATGTTTCCTGTCATCTGCTCCAAGTATATGAAGTATAACCTGTTTGCTGCTTATTTATTTATTTATTTTGAGATGGAGTCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGGTCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCCCCCTAGTAGCTGGGATTACAGGTGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGTCCTCAGGTGATCCGCCCACCTCGGCCTCCCCAAGTGCTGGGATTACAGGCATGAGCCACCACGGCTAGCCAATAAGCATTTATTTTTAAGCATCTATTGCATACCAGAAGAACAAGACAAAGTTTCTACCCTGCTTATCAAACAACTGAAGTAACATTAGTAAACCGGTTGTTACTACCTCACTGGCTAAGTGCTCAGAGGCGAGTGCCATGGGGCAGCATTCGGTGAAGTACAGGCAGCTCTGTACCAATATTTTTTCTGGGATATTTAGCAAAGGCCCTGTATGAGGAAACCAACTCACCAGTCCACTGTTGTGGCCCATGATGGCTTCCCACAGTGAGTTGTCCATCAAGACTTTCTTGTCTTGAATGTCCATGAGCTGGCTGACGCTGCGGTGAAGAGAACCCTGGGAGTAGGTTAGGCTGGTTTGGTTTTGACTCGGATGCGCAGGACACATGCACTCCGGTTGCTGCGGATACTCACAGGTGTCCCAGACCGGGGAATTTTGGTATCGGCTAACCCCTGAGAAGGAAGTTGCTGTGAGTATTTCACATATAAAGAATATGGGCTTGAAATATGACAGAGAATTGTGTCTCACACATTGTCAGTGAAGGGAATGACTGTCTCCTGACAATTGTCACATTGTCAATGAAGGGAACAACTGTCACCTACAGAATTTAGCAGCTATGAGCACCCACAACACGGTGACCCTGGGTTTCTTGGTAAGAAGGATGAGATGATGAGCTAATACTCAAGTTAGGTGGCCAGTGTTTTCGGCACCTAGAGAGCTCATGCACTGGTGCTCTGGCTGTTGTTCCCTGTGGGGCAAGGGCTTGCTGCATTGCAAAGTGGTGGGGCAAGGCAGACGGATGATGGGTGAACAAGGTATCTTCTTCATACATGTCAGCACAGAGCCTCCCTCTTGAGAACACTCCTCCCCCAGAACAGCCAAAGATAACAATATTATTTCATGGTGGTCCACTATGTGAGCTCCGTTTGTCTTTCACTTTAAAAGTCCTGGATTTGTGTAGGGAAATTGACTCCTCCCTCCCTCATTTCTCATTCCATATTCCTCCATTTCTTATAGGATTCCAGCCTCCAAATTACATCAGGTCTGATATTAACATCAGAGAGAAAAAGTCACTACATAATTTAGACCTAGAACGCGCCGTAAGATAAACTATAGTTGCTCTAAATATCTGAGGGCTCTGATTTAGCTGGTCCAATCAATGAAATGTTTCTGCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTAATTTTTGGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCATTTCTTTTCTTTTTTCAGTAGAGTTTTCACTCATGTTGTTCAGCTTTCCAAGGAATGGATATATGGAAGTCATCAATGATCTGTTCCTGCTTTTCACTGTGCAGTCAACACACCATGCAAAAGATCATGCATTCATGCAGCACACAGAGGTACCTCAAAGTGCATGGTGTAACTTTTTAGGGTGACATTGCTTGACACATCAGATATATCAGCCACAGAGTCAAACTGAGAACAAATGGCAGCATCAGTCCATGTTTGGAACAGTTTTAAACACATTCCTTGCATTTCTCCAATGACAGCATTATCATACCCATATTTAATACTGCTCTGATGTACATATATATCCTAGGATACATACCTGCATATGTATATATGTGTGTGTATATATATGTGTGTGTGTATATATACATATATATGTGAATATATATGTATGTGTATGTGTGTGTGTATATATATATATATATATATATATATATATATATATATATATATGAGAGAGAGAAAGTTGGGTTTTGCAACTAAAACTTCATAGTGAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCCAGCAATTTGGGAGGCCAAGACGGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAGTCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGCTGGAGGTTGCAGTGAGTCGAGATCATGCCACTGCACTCCAGTCTGGATGACAGAAGACTCTGTCTCAAAAACAAACAAATTAAAAAAAAAAAAACCTTGGTGAGTGGAAATTAATTGATTAGTGTCTAAGGTAAGTACCACTGCCAGTATTTGTTTAGTATTGCAGGGAATGAAAGGATCTTCAAACCAGTAATTAAATAACAAGCAAAACTTAAAN
|
pathogenic
| 21,773
|
A genetic variant on chromosome 1, position 215628961, affects the gene USH2A (usherin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A']
|
GCATGTCAAAAATGATCAGTTAGCAATTCATTGTTTCAACCAAATATAATTATCCCTGCCTTTTAAAAACTTTAGATCTGAAATGGACTCATGTAGTTGAGGTTACAACAACATCAAACAGCCTGTGATTTTAAAATGCATATTATATATATGTATATATTATACAATCATTCTGAACAGGCCAGAAGGATGGTACATTTTTTTATATAGTGTTAGGGAACCTGGGTCCAGCGAACTCCCTTTATTATTTGCTATTAGTCAAGAAAGGCTTCATGGAAGTCATCAACTTTTCAGTGAAGGAAAAGTGAGAACTTGGAGGAGAAAGATGAGAGCAAATCCAAAAACAGAAGCAGATGATTGAAAGAAGTGGAGGTGAATAATTTTACCCCAGAGGAGTAAACACAGGAGCTAACTTCCTAGCTGGTTATGTTTCTTTTCTTTTCTTTCTCTCCCTCCCTCCCTCCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTTTTTCCTTTTTTTCTTTTTTCAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGGGCCATCTCAGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCACCACCGCGCCCAGCTAATTTTTGTATTTTTGGTAGAGACGAGGTTTCACCATGTTGGTCAGGCTGGTCTCTATCTAACTCTGGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACTGTGCCTGGCCTATCTGTTTATTTTCTAACAGGCCCAGTGGAATGGTAGGTACTGCAGCGGGCATCTAGGAAGTTAGCACAATGAAATTTGATAGTTGGCAAAAATTCTAGGATTTTTGTTATTGTAGCCGCTCAGAGACTGATAATAAATGTTATATCACGAAGAGGTTACCTTTCAAAGAGCCAATGATTTGTACCCACTGGACTGAAATTATGAAAGATGAAGCTTATAAATAGTAACACCCTCATTTGTCATCATTTCCTAAGGTTTTGGAAAGCAACCATGTTCACCTGTTGATACAAAATATTCTTTTTGCGTCTACCCATACACCAATAGGAAAAGGCAAAACAAAAAAAGTACCTTTTTGTTTTAGTAAAACAAGTGCTTGTATTTTATGCCTTGTTTTAGGCCCATTCCAATGTTTCCTGTCATCTGCTCCAAGTATATGAAGTATAACCTGTTTGCTGCTTATTTATTTATTTATTTTGAGATGGAGTCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGGTCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCCCCCTAGTAGCTGGGATTACAGGTGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGTCCTCAGGTGATCCGCCCACCTCGGCCTCCCCAAGTGCTGGGATTACAGGCATGAGCCACCACGGCTAGCCAATAAGCATTTATTTTTAAGCATCTATTGCATACCAGAAGAACAAGACAAAGTTTCTACCCTGCTTATCAAACAACTGAAGTAACATTAGTAAACCGGTTGTTACTACCTCACTGGCTAAGTGCTCAGAGGCGAGTGCCATGGGGCAGCATTCGGTGAAGTACAGGCAGCTCTGTACCAATATTTTTTCTGGGATATTTAGCAAAGGCCCTGTATGAGGAAACCAACTCACCAGTCCACTGTTGTGGCCCATGATGGCTTCCCACAGTGAGTTGTCCATCAAGACTTTCTTGTCTTGAATGTCCATGAGCTGGCTGACGCTGCGGTGAAGAGAACCCTGGGAGTAGGTTAGGCTGGTTTGGTTTTGACTCGGGATGCGCAGGACACATGCACTCCGGTTGCTGCGGATACTCACAGGTGTCCCAGACCGGGGAATTTTGGTATCGGCTAACCCCTGAGAAGGAAGTTGCTGTGAGTATTTCACATATAAAGAATATGGGCTTGAAATATGACAGAGAATTGTGTCTCACACATTGTCAGTGAAGGGAATGACTGTCTCCTGACAATTGTCACATTGTCAATGAAGGGAACAACTGTCACCTACAGAATTTAGCAGCTATGAGCACCCACAACACGGTGACCCTGGGTTTCTTGGTAAGAAGGATGAGATGATGAGCTAATACTCAAGTTAGGTGGCCAGTGTTTTCGGCACCTAGAGAGCTCATGCACTGGTGCTCTGGCTGTTGTTCCCTGTGGGGCAAGGGCTTGCTGCATTGCAAAGTGGTGGGGCAAGGCAGACGGATGATGGGTGAACAAGGTATCTTCTTCATACATGTCAGCACAGAGCCTCCCTCTTGAGAACACTCCTCCCCCAGAACAGCCAAAGATAACAATATTATTTCATGGTGGTCCACTATGTGAGCTCCGTTTGTCTTTCACTTTAAAAGTCCTGGATTTGTGTAGGGAAATTGACTCCTCCCTCCCTCATTTCTCATTCCATATTCCTCCATTTCTTATAGGATTCCAGCCTCCAAATTACATCAGGTCTGATATTAACATCAGAGAGAAAAAGTCACTACATAATTTAGACCTAGAACGCGCCGTAAGATAAACTATAGTTGCTCTAAATATCTGAGGGCTCTGATTTAGCTGGTCCAATCAATGAAATGTTTCTGCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTAATTTTTGGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCATTTCTTTTCTTTTTTCAGTAGAGTTTTCACTCATGTTGTTCAGCTTTCCAAGGAATGGATATATGGAAGTCATCAATGATCTGTTCCTGCTTTTCACTGTGCAGTCAACACACCATGCAAAAGATCATGCATTCATGCAGCACACAGAGGTACCTCAAAGTGCATGGTGTAACTTTTTAGGGTGACATTGCTTGACACATCAGATATATCAGCCACAGAGTCAAACTGAGAACAAATGGCAGCATCAGTCCATGTTTGGAACAGTTTTAAACACATTCCTTGCATTTCTCCAATGACAGCATTATCATACCCATATTTAATACTGCTCTGATGTACATATATATCCTAGGATACATACCTGCATATGTATATATGTGTGTGTATATATATGTGTGTGTGTATATATACATATATATGTGAATATATATGTATGTGTATGTGTGTGTGTATATATATATATATATATATATATATATATATATATATATATATGAGAGAGAGAAAGTTGGGTTTTGCAACTAAAACTTCATAGTGAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCCAGCAATTTGGGAGGCCAAGACGGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAGTCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGCTGGAGGTTGCAGTGAGTCGAGATCATGCCACTGCACTCCAGTCTGGATGACAGAAGACTCTGTCTCAAAAACAAACAAATTAAAAAAAAAAAAACCTTGGTGAGTGGAAATTAATTGATTAGTGTCTAAGGTAAGTACCACTGCCAGTATTTGTTTAGTATTGCAGGGAATGAAAGGATCTTCAAACCAGTAATTAAATAACAAGCAAAACTTAAACTTAGCTAT
|
GCATGTCAAAAATGATCAGTTAGCAATTCATTGTTTCAACCAAATATAATTATCCCTGCCTTTTAAAAACTTTAGATCTGAAATGGACTCATGTAGTTGAGGTTACAACAACATCAAACAGCCTGTGATTTTAAAATGCATATTATATATATGTATATATTATACAATCATTCTGAACAGGCCAGAAGGATGGTACATTTTTTTATATAGTGTTAGGGAACCTGGGTCCAGCGAACTCCCTTTATTATTTGCTATTAGTCAAGAAAGGCTTCATGGAAGTCATCAACTTTTCAGTGAAGGAAAAGTGAGAACTTGGAGGAGAAAGATGAGAGCAAATCCAAAAACAGAAGCAGATGATTGAAAGAAGTGGAGGTGAATAATTTTACCCCAGAGGAGTAAACACAGGAGCTAACTTCCTAGCTGGTTATGTTTCTTTTCTTTTCTTTCTCTCCCTCCCTCCCTCCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTTTTTCCTTTTTTTCTTTTTTCAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGGGCCATCTCAGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCACCACCGCGCCCAGCTAATTTTTGTATTTTTGGTAGAGACGAGGTTTCACCATGTTGGTCAGGCTGGTCTCTATCTAACTCTGGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACTGTGCCTGGCCTATCTGTTTATTTTCTAACAGGCCCAGTGGAATGGTAGGTACTGCAGCGGGCATCTAGGAAGTTAGCACAATGAAATTTGATAGTTGGCAAAAATTCTAGGATTTTTGTTATTGTAGCCGCTCAGAGACTGATAATAAATGTTATATCACGAAGAGGTTACCTTTCAAAGAGCCAATGATTTGTACCCACTGGACTGAAATTATGAAAGATGAAGCTTATAAATAGTAACACCCTCATTTGTCATCATTTCCTAAGGTTTTGGAAAGCAACCATGTTCACCTGTTGATACAAAATATTCTTTTTGCGTCTACCCATACACCAATAGGAAAAGGCAAAACAAAAAAAGTACCTTTTTGTTTTAGTAAAACAAGTGCTTGTATTTTATGCCTTGTTTTAGGCCCATTCCAATGTTTCCTGTCATCTGCTCCAAGTATATGAAGTATAACCTGTTTGCTGCTTATTTATTTATTTATTTTGAGATGGAGTCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGGTCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCCCCCTAGTAGCTGGGATTACAGGTGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGTCCTCAGGTGATCCGCCCACCTCGGCCTCCCCAAGTGCTGGGATTACAGGCATGAGCCACCACGGCTAGCCAATAAGCATTTATTTTTAAGCATCTATTGCATACCAGAAGAACAAGACAAAGTTTCTACCCTGCTTATCAAACAACTGAAGTAACATTAGTAAACCGGTTGTTACTACCTCACTGGCTAAGTGCTCAGAGGCGAGTGCCATGGGGCAGCATTCGGTGAAGTACAGGCAGCTCTGTACCAATATTTTTTCTGGGATATTTAGCAAAGGCCCTGTATGAGGAAACCAACTCACCAGTCCACTGTTGTGGCCCATGATGGCTTCCCACAGTGAGTTGTCCATCAAGACTTTCTTGTCTTGAATGTCCATGAGCTGGCTGACGCTGCGGTGAAGAGAACCCTGGGAGTAGGTTAGGCTGGTTTGGTTTTGACTCGGGATGCGCGGACACATGCACTCCGGTTGCTGCGGATACTCACAGGTGTCCCAGACCGGGGAATTTTGGTATCGGCTAACCCCTGAGAAGGAAGTTGCTGTGAGTATTTCACATATAAAGAATATGGGCTTGAAATATGACAGAGAATTGTGTCTCACACATTGTCAGTGAAGGGAATGACTGTCTCCTGACAATTGTCACATTGTCAATGAAGGGAACAACTGTCACCTACAGAATTTAGCAGCTATGAGCACCCACAACACGGTGACCCTGGGTTTCTTGGTAAGAAGGATGAGATGATGAGCTAATACTCAAGTTAGGTGGCCAGTGTTTTCGGCACCTAGAGAGCTCATGCACTGGTGCTCTGGCTGTTGTTCCCTGTGGGGCAAGGGCTTGCTGCATTGCAAAGTGGTGGGGCAAGGCAGACGGATGATGGGTGAACAAGGTATCTTCTTCATACATGTCAGCACAGAGCCTCCCTCTTGAGAACACTCCTCCCCCAGAACAGCCAAAGATAACAATATTATTTCATGGTGGTCCACTATGTGAGCTCCGTTTGTCTTTCACTTTAAAAGTCCTGGATTTGTGTAGGGAAATTGACTCCTCCCTCCCTCATTTCTCATTCCATATTCCTCCATTTCTTATAGGATTCCAGCCTCCAAATTACATCAGGTCTGATATTAACATCAGAGAGAAAAAGTCACTACATAATTTAGACCTAGAACGCGCCGTAAGATAAACTATAGTTGCTCTAAATATCTGAGGGCTCTGATTTAGCTGGTCCAATCAATGAAATGTTTCTGCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTAATTTTTGGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCATTTCTTTTCTTTTTTCAGTAGAGTTTTCACTCATGTTGTTCAGCTTTCCAAGGAATGGATATATGGAAGTCATCAATGATCTGTTCCTGCTTTTCACTGTGCAGTCAACACACCATGCAAAAGATCATGCATTCATGCAGCACACAGAGGTACCTCAAAGTGCATGGTGTAACTTTTTAGGGTGACATTGCTTGACACATCAGATATATCAGCCACAGAGTCAAACTGAGAACAAATGGCAGCATCAGTCCATGTTTGGAACAGTTTTAAACACATTCCTTGCATTTCTCCAATGACAGCATTATCATACCCATATTTAATACTGCTCTGATGTACATATATATCCTAGGATACATACCTGCATATGTATATATGTGTGTGTATATATATGTGTGTGTGTATATATACATATATATGTGAATATATATGTATGTGTATGTGTGTGTGTATATATATATATATATATATATATATATATATATATATATATATGAGAGAGAGAAAGTTGGGTTTTGCAACTAAAACTTCATAGTGAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCCAGCAATTTGGGAGGCCAAGACGGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAGTCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGCTGGAGGTTGCAGTGAGTCGAGATCATGCCACTGCACTCCAGTCTGGATGACAGAAGACTCTGTCTCAAAAACAAACAAATTAAAAAAAAAAAAACCTTGGTGAGTGGAAATTAATTGATTAGTGTCTAAGGTAAGTACCACTGCCAGTATTTGTTTAGTATTGCAGGGAATGAAAGGATCTTCAAACCAGTAATTAAATAACAAGCAAAACTTAAACTTAGCTATN
|
pathogenic
| 21,775
|
For chromosome 1, position 215628993, gene USH2A (usherin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Retinitis_pigmentosa_39']
|
GTTTCAACCAAATATAATTATCCCTGCCTTTTAAAAACTTTAGATCTGAAATGGACTCATGTAGTTGAGGTTACAACAACATCAAACAGCCTGTGATTTTAAAATGCATATTATATATATGTATATATTATACAATCATTCTGAACAGGCCAGAAGGATGGTACATTTTTTTATATAGTGTTAGGGAACCTGGGTCCAGCGAACTCCCTTTATTATTTGCTATTAGTCAAGAAAGGCTTCATGGAAGTCATCAACTTTTCAGTGAAGGAAAAGTGAGAACTTGGAGGAGAAAGATGAGAGCAAATCCAAAAACAGAAGCAGATGATTGAAAGAAGTGGAGGTGAATAATTTTACCCCAGAGGAGTAAACACAGGAGCTAACTTCCTAGCTGGTTATGTTTCTTTTCTTTTCTTTCTCTCCCTCCCTCCCTCCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTTTTTCCTTTTTTTCTTTTTTCAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGGGCCATCTCAGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCACCACCGCGCCCAGCTAATTTTTGTATTTTTGGTAGAGACGAGGTTTCACCATGTTGGTCAGGCTGGTCTCTATCTAACTCTGGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACTGTGCCTGGCCTATCTGTTTATTTTCTAACAGGCCCAGTGGAATGGTAGGTACTGCAGCGGGCATCTAGGAAGTTAGCACAATGAAATTTGATAGTTGGCAAAAATTCTAGGATTTTTGTTATTGTAGCCGCTCAGAGACTGATAATAAATGTTATATCACGAAGAGGTTACCTTTCAAAGAGCCAATGATTTGTACCCACTGGACTGAAATTATGAAAGATGAAGCTTATAAATAGTAACACCCTCATTTGTCATCATTTCCTAAGGTTTTGGAAAGCAACCATGTTCACCTGTTGATACAAAATATTCTTTTTGCGTCTACCCATACACCAATAGGAAAAGGCAAAACAAAAAAAGTACCTTTTTGTTTTAGTAAAACAAGTGCTTGTATTTTATGCCTTGTTTTAGGCCCATTCCAATGTTTCCTGTCATCTGCTCCAAGTATATGAAGTATAACCTGTTTGCTGCTTATTTATTTATTTATTTTGAGATGGAGTCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGGTCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCCCCCTAGTAGCTGGGATTACAGGTGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGTCCTCAGGTGATCCGCCCACCTCGGCCTCCCCAAGTGCTGGGATTACAGGCATGAGCCACCACGGCTAGCCAATAAGCATTTATTTTTAAGCATCTATTGCATACCAGAAGAACAAGACAAAGTTTCTACCCTGCTTATCAAACAACTGAAGTAACATTAGTAAACCGGTTGTTACTACCTCACTGGCTAAGTGCTCAGAGGCGAGTGCCATGGGGCAGCATTCGGTGAAGTACAGGCAGCTCTGTACCAATATTTTTTCTGGGATATTTAGCAAAGGCCCTGTATGAGGAAACCAACTCACCAGTCCACTGTTGTGGCCCATGATGGCTTCCCACAGTGAGTTGTCCATCAAGACTTTCTTGTCTTGAATGTCCATGAGCTGGCTGACGCTGCGGTGAAGAGAACCCTGGGAGTAGGTTAGGCTGGTTTGGTTTTGACTCGGGATGCGCAGGACACATGCACTCCGGTTGCTGCGGATACTCACAGGTGTCCCAGACCGGGGAATTTTGGTATCGGCTAACCCCTGAGAAGGAAGTTGCTGTGAGTATTTCACATATAAAGAATATGGGCTTGAAATATGACAGAGAATTGTGTCTCACACATTGTCAGTGAAGGGAATGACTGTCTCCTGACAATTGTCACATTGTCAATGAAGGGAACAACTGTCACCTACAGAATTTAGCAGCTATGAGCACCCACAACACGGTGACCCTGGGTTTCTTGGTAAGAAGGATGAGATGATGAGCTAATACTCAAGTTAGGTGGCCAGTGTTTTCGGCACCTAGAGAGCTCATGCACTGGTGCTCTGGCTGTTGTTCCCTGTGGGGCAAGGGCTTGCTGCATTGCAAAGTGGTGGGGCAAGGCAGACGGATGATGGGTGAACAAGGTATCTTCTTCATACATGTCAGCACAGAGCCTCCCTCTTGAGAACACTCCTCCCCCAGAACAGCCAAAGATAACAATATTATTTCATGGTGGTCCACTATGTGAGCTCCGTTTGTCTTTCACTTTAAAAGTCCTGGATTTGTGTAGGGAAATTGACTCCTCCCTCCCTCATTTCTCATTCCATATTCCTCCATTTCTTATAGGATTCCAGCCTCCAAATTACATCAGGTCTGATATTAACATCAGAGAGAAAAAGTCACTACATAATTTAGACCTAGAACGCGCCGTAAGATAAACTATAGTTGCTCTAAATATCTGAGGGCTCTGATTTAGCTGGTCCAATCAATGAAATGTTTCTGCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTAATTTTTGGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCATTTCTTTTCTTTTTTCAGTAGAGTTTTCACTCATGTTGTTCAGCTTTCCAAGGAATGGATATATGGAAGTCATCAATGATCTGTTCCTGCTTTTCACTGTGCAGTCAACACACCATGCAAAAGATCATGCATTCATGCAGCACACAGAGGTACCTCAAAGTGCATGGTGTAACTTTTTAGGGTGACATTGCTTGACACATCAGATATATCAGCCACAGAGTCAAACTGAGAACAAATGGCAGCATCAGTCCATGTTTGGAACAGTTTTAAACACATTCCTTGCATTTCTCCAATGACAGCATTATCATACCCATATTTAATACTGCTCTGATGTACATATATATCCTAGGATACATACCTGCATATGTATATATGTGTGTGTATATATATGTGTGTGTGTATATATACATATATATGTGAATATATATGTATGTGTATGTGTGTGTGTATATATATATATATATATATATATATATATATATATATATATATGAGAGAGAGAAAGTTGGGTTTTGCAACTAAAACTTCATAGTGAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCCAGCAATTTGGGAGGCCAAGACGGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAGTCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGCTGGAGGTTGCAGTGAGTCGAGATCATGCCACTGCACTCCAGTCTGGATGACAGAAGACTCTGTCTCAAAAACAAACAAATTAAAAAAAAAAAAACCTTGGTGAGTGGAAATTAATTGATTAGTGTCTAAGGTAAGTACCACTGCCAGTATTTGTTTAGTATTGCAGGGAATGAAAGGATCTTCAAACCAGTAATTAAATAACAAGCAAAACTTAAACTTAGCTATACTGTATACTGTATGGTCTTGAAAAATGTTGA
|
GTTTCAACCAAATATAATTATCCCTGCCTTTTAAAAACTTTAGATCTGAAATGGACTCATGTAGTTGAGGTTACAACAACATCAAACAGCCTGTGATTTTAAAATGCATATTATATATATGTATATATTATACAATCATTCTGAACAGGCCAGAAGGATGGTACATTTTTTTATATAGTGTTAGGGAACCTGGGTCCAGCGAACTCCCTTTATTATTTGCTATTAGTCAAGAAAGGCTTCATGGAAGTCATCAACTTTTCAGTGAAGGAAAAGTGAGAACTTGGAGGAGAAAGATGAGAGCAAATCCAAAAACAGAAGCAGATGATTGAAAGAAGTGGAGGTGAATAATTTTACCCCAGAGGAGTAAACACAGGAGCTAACTTCCTAGCTGGTTATGTTTCTTTTCTTTTCTTTCTCTCCCTCCCTCCCTCCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTTTTTCCTTTTTTTCTTTTTTCAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGGGCCATCTCAGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCACCACCGCGCCCAGCTAATTTTTGTATTTTTGGTAGAGACGAGGTTTCACCATGTTGGTCAGGCTGGTCTCTATCTAACTCTGGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACTGTGCCTGGCCTATCTGTTTATTTTCTAACAGGCCCAGTGGAATGGTAGGTACTGCAGCGGGCATCTAGGAAGTTAGCACAATGAAATTTGATAGTTGGCAAAAATTCTAGGATTTTTGTTATTGTAGCCGCTCAGAGACTGATAATAAATGTTATATCACGAAGAGGTTACCTTTCAAAGAGCCAATGATTTGTACCCACTGGACTGAAATTATGAAAGATGAAGCTTATAAATAGTAACACCCTCATTTGTCATCATTTCCTAAGGTTTTGGAAAGCAACCATGTTCACCTGTTGATACAAAATATTCTTTTTGCGTCTACCCATACACCAATAGGAAAAGGCAAAACAAAAAAAGTACCTTTTTGTTTTAGTAAAACAAGTGCTTGTATTTTATGCCTTGTTTTAGGCCCATTCCAATGTTTCCTGTCATCTGCTCCAAGTATATGAAGTATAACCTGTTTGCTGCTTATTTATTTATTTATTTTGAGATGGAGTCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGGTCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCCCCCTAGTAGCTGGGATTACAGGTGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGTCCTCAGGTGATCCGCCCACCTCGGCCTCCCCAAGTGCTGGGATTACAGGCATGAGCCACCACGGCTAGCCAATAAGCATTTATTTTTAAGCATCTATTGCATACCAGAAGAACAAGACAAAGTTTCTACCCTGCTTATCAAACAACTGAAGTAACATTAGTAAACCGGTTGTTACTACCTCACTGGCTAAGTGCTCAGAGGCGAGTGCCATGGGGCAGCATTCGGTGAAGTACAGGCAGCTCTGTACCAATATTTTTTCTGGGATATTTAGCAAAGGCCCTGTATGAGGAAACCAACTCACCAGTCCACTGTTGTGGCCCATGATGGCTTCCCACAGTGAGTTGTCCATCAAGACTTTCTTGTCTTGAATGTCCATGAGCTGGCTGACGCTGCGGTGAAGAGAACCCTGGGAGTAGGTTAGGCTGGTTTGGTTTTGACTCGGGATGCGCAGGACACATGCACTCCGGTTGCTGCGGATACTCAGGTGTCCCAGACCGGGGAATTTTGGTATCGGCTAACCCCTGAGAAGGAAGTTGCTGTGAGTATTTCACATATAAAGAATATGGGCTTGAAATATGACAGAGAATTGTGTCTCACACATTGTCAGTGAAGGGAATGACTGTCTCCTGACAATTGTCACATTGTCAATGAAGGGAACAACTGTCACCTACAGAATTTAGCAGCTATGAGCACCCACAACACGGTGACCCTGGGTTTCTTGGTAAGAAGGATGAGATGATGAGCTAATACTCAAGTTAGGTGGCCAGTGTTTTCGGCACCTAGAGAGCTCATGCACTGGTGCTCTGGCTGTTGTTCCCTGTGGGGCAAGGGCTTGCTGCATTGCAAAGTGGTGGGGCAAGGCAGACGGATGATGGGTGAACAAGGTATCTTCTTCATACATGTCAGCACAGAGCCTCCCTCTTGAGAACACTCCTCCCCCAGAACAGCCAAAGATAACAATATTATTTCATGGTGGTCCACTATGTGAGCTCCGTTTGTCTTTCACTTTAAAAGTCCTGGATTTGTGTAGGGAAATTGACTCCTCCCTCCCTCATTTCTCATTCCATATTCCTCCATTTCTTATAGGATTCCAGCCTCCAAATTACATCAGGTCTGATATTAACATCAGAGAGAAAAAGTCACTACATAATTTAGACCTAGAACGCGCCGTAAGATAAACTATAGTTGCTCTAAATATCTGAGGGCTCTGATTTAGCTGGTCCAATCAATGAAATGTTTCTGCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTAATTTTTGGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCATTTCTTTTCTTTTTTCAGTAGAGTTTTCACTCATGTTGTTCAGCTTTCCAAGGAATGGATATATGGAAGTCATCAATGATCTGTTCCTGCTTTTCACTGTGCAGTCAACACACCATGCAAAAGATCATGCATTCATGCAGCACACAGAGGTACCTCAAAGTGCATGGTGTAACTTTTTAGGGTGACATTGCTTGACACATCAGATATATCAGCCACAGAGTCAAACTGAGAACAAATGGCAGCATCAGTCCATGTTTGGAACAGTTTTAAACACATTCCTTGCATTTCTCCAATGACAGCATTATCATACCCATATTTAATACTGCTCTGATGTACATATATATCCTAGGATACATACCTGCATATGTATATATGTGTGTGTATATATATGTGTGTGTGTATATATACATATATATGTGAATATATATGTATGTGTATGTGTGTGTGTATATATATATATATATATATATATATATATATATATATATATATGAGAGAGAGAAAGTTGGGTTTTGCAACTAAAACTTCATAGTGAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCCAGCAATTTGGGAGGCCAAGACGGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAGTCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGCTGGAGGTTGCAGTGAGTCGAGATCATGCCACTGCACTCCAGTCTGGATGACAGAAGACTCTGTCTCAAAAACAAACAAATTAAAAAAAAAAAAACCTTGGTGAGTGGAAATTAATTGATTAGTGTCTAAGGTAAGTACCACTGCCAGTATTTGTTTAGTATTGCAGGGAATGAAAGGATCTTCAAACCAGTAATTAAATAACAAGCAAAACTTAAACTTAGCTATACTGTATACTGTATGGTCTTGAAAAATGTTGANN
|
pathogenic
| 21,777
|
Does the variant on chromosome 1 at location 215629010 affecting gene USH2A (usherin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A']
|
TTATCCCTGCCTTTTAAAAACTTTAGATCTGAAATGGACTCATGTAGTTGAGGTTACAACAACATCAAACAGCCTGTGATTTTAAAATGCATATTATATATATGTATATATTATACAATCATTCTGAACAGGCCAGAAGGATGGTACATTTTTTTATATAGTGTTAGGGAACCTGGGTCCAGCGAACTCCCTTTATTATTTGCTATTAGTCAAGAAAGGCTTCATGGAAGTCATCAACTTTTCAGTGAAGGAAAAGTGAGAACTTGGAGGAGAAAGATGAGAGCAAATCCAAAAACAGAAGCAGATGATTGAAAGAAGTGGAGGTGAATAATTTTACCCCAGAGGAGTAAACACAGGAGCTAACTTCCTAGCTGGTTATGTTTCTTTTCTTTTCTTTCTCTCCCTCCCTCCCTCCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTTTTTCCTTTTTTTCTTTTTTCAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGGGCCATCTCAGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCACCACCGCGCCCAGCTAATTTTTGTATTTTTGGTAGAGACGAGGTTTCACCATGTTGGTCAGGCTGGTCTCTATCTAACTCTGGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACTGTGCCTGGCCTATCTGTTTATTTTCTAACAGGCCCAGTGGAATGGTAGGTACTGCAGCGGGCATCTAGGAAGTTAGCACAATGAAATTTGATAGTTGGCAAAAATTCTAGGATTTTTGTTATTGTAGCCGCTCAGAGACTGATAATAAATGTTATATCACGAAGAGGTTACCTTTCAAAGAGCCAATGATTTGTACCCACTGGACTGAAATTATGAAAGATGAAGCTTATAAATAGTAACACCCTCATTTGTCATCATTTCCTAAGGTTTTGGAAAGCAACCATGTTCACCTGTTGATACAAAATATTCTTTTTGCGTCTACCCATACACCAATAGGAAAAGGCAAAACAAAAAAAGTACCTTTTTGTTTTAGTAAAACAAGTGCTTGTATTTTATGCCTTGTTTTAGGCCCATTCCAATGTTTCCTGTCATCTGCTCCAAGTATATGAAGTATAACCTGTTTGCTGCTTATTTATTTATTTATTTTGAGATGGAGTCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGGTCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCCCCCTAGTAGCTGGGATTACAGGTGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGTCCTCAGGTGATCCGCCCACCTCGGCCTCCCCAAGTGCTGGGATTACAGGCATGAGCCACCACGGCTAGCCAATAAGCATTTATTTTTAAGCATCTATTGCATACCAGAAGAACAAGACAAAGTTTCTACCCTGCTTATCAAACAACTGAAGTAACATTAGTAAACCGGTTGTTACTACCTCACTGGCTAAGTGCTCAGAGGCGAGTGCCATGGGGCAGCATTCGGTGAAGTACAGGCAGCTCTGTACCAATATTTTTTCTGGGATATTTAGCAAAGGCCCTGTATGAGGAAACCAACTCACCAGTCCACTGTTGTGGCCCATGATGGCTTCCCACAGTGAGTTGTCCATCAAGACTTTCTTGTCTTGAATGTCCATGAGCTGGCTGACGCTGCGGTGAAGAGAACCCTGGGAGTAGGTTAGGCTGGTTTGGTTTTGACTCGGGATGCGCAGGACACATGCACTCCGGTTGCTGCGGATACTCACAGGTGTCCCAGACCGGGGAATTTTGGTATCGGCTAACCCCTGAGAAGGAAGTTGCTGTGAGTATTTCACATATAAAGAATATGGGCTTGAAATATGACAGAGAATTGTGTCTCACACATTGTCAGTGAAGGGAATGACTGTCTCCTGACAATTGTCACATTGTCAATGAAGGGAACAACTGTCACCTACAGAATTTAGCAGCTATGAGCACCCACAACACGGTGACCCTGGGTTTCTTGGTAAGAAGGATGAGATGATGAGCTAATACTCAAGTTAGGTGGCCAGTGTTTTCGGCACCTAGAGAGCTCATGCACTGGTGCTCTGGCTGTTGTTCCCTGTGGGGCAAGGGCTTGCTGCATTGCAAAGTGGTGGGGCAAGGCAGACGGATGATGGGTGAACAAGGTATCTTCTTCATACATGTCAGCACAGAGCCTCCCTCTTGAGAACACTCCTCCCCCAGAACAGCCAAAGATAACAATATTATTTCATGGTGGTCCACTATGTGAGCTCCGTTTGTCTTTCACTTTAAAAGTCCTGGATTTGTGTAGGGAAATTGACTCCTCCCTCCCTCATTTCTCATTCCATATTCCTCCATTTCTTATAGGATTCCAGCCTCCAAATTACATCAGGTCTGATATTAACATCAGAGAGAAAAAGTCACTACATAATTTAGACCTAGAACGCGCCGTAAGATAAACTATAGTTGCTCTAAATATCTGAGGGCTCTGATTTAGCTGGTCCAATCAATGAAATGTTTCTGCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTAATTTTTGGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCATTTCTTTTCTTTTTTCAGTAGAGTTTTCACTCATGTTGTTCAGCTTTCCAAGGAATGGATATATGGAAGTCATCAATGATCTGTTCCTGCTTTTCACTGTGCAGTCAACACACCATGCAAAAGATCATGCATTCATGCAGCACACAGAGGTACCTCAAAGTGCATGGTGTAACTTTTTAGGGTGACATTGCTTGACACATCAGATATATCAGCCACAGAGTCAAACTGAGAACAAATGGCAGCATCAGTCCATGTTTGGAACAGTTTTAAACACATTCCTTGCATTTCTCCAATGACAGCATTATCATACCCATATTTAATACTGCTCTGATGTACATATATATCCTAGGATACATACCTGCATATGTATATATGTGTGTGTATATATATGTGTGTGTGTATATATACATATATATGTGAATATATATGTATGTGTATGTGTGTGTGTATATATATATATATATATATATATATATATATATATATATATATGAGAGAGAGAAAGTTGGGTTTTGCAACTAAAACTTCATAGTGAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCCAGCAATTTGGGAGGCCAAGACGGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAGTCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGCTGGAGGTTGCAGTGAGTCGAGATCATGCCACTGCACTCCAGTCTGGATGACAGAAGACTCTGTCTCAAAAACAAACAAATTAAAAAAAAAAAAACCTTGGTGAGTGGAAATTAATTGATTAGTGTCTAAGGTAAGTACCACTGCCAGTATTTGTTTAGTATTGCAGGGAATGAAAGGATCTTCAAACCAGTAATTAAATAACAAGCAAAACTTAAACTTAGCTATACTGTATACTGTATGGTCTTGAAAAATGTTGATGAAATACAAAAGACAC
|
TTATCCCTGCCTTTTAAAAACTTTAGATCTGAAATGGACTCATGTAGTTGAGGTTACAACAACATCAAACAGCCTGTGATTTTAAAATGCATATTATATATATGTATATATTATACAATCATTCTGAACAGGCCAGAAGGATGGTACATTTTTTTATATAGTGTTAGGGAACCTGGGTCCAGCGAACTCCCTTTATTATTTGCTATTAGTCAAGAAAGGCTTCATGGAAGTCATCAACTTTTCAGTGAAGGAAAAGTGAGAACTTGGAGGAGAAAGATGAGAGCAAATCCAAAAACAGAAGCAGATGATTGAAAGAAGTGGAGGTGAATAATTTTACCCCAGAGGAGTAAACACAGGAGCTAACTTCCTAGCTGGTTATGTTTCTTTTCTTTTCTTTCTCTCCCTCCCTCCCTCCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTTTTTCCTTTTTTTCTTTTTTCAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGGGCCATCTCAGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCACCACCGCGCCCAGCTAATTTTTGTATTTTTGGTAGAGACGAGGTTTCACCATGTTGGTCAGGCTGGTCTCTATCTAACTCTGGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACTGTGCCTGGCCTATCTGTTTATTTTCTAACAGGCCCAGTGGAATGGTAGGTACTGCAGCGGGCATCTAGGAAGTTAGCACAATGAAATTTGATAGTTGGCAAAAATTCTAGGATTTTTGTTATTGTAGCCGCTCAGAGACTGATAATAAATGTTATATCACGAAGAGGTTACCTTTCAAAGAGCCAATGATTTGTACCCACTGGACTGAAATTATGAAAGATGAAGCTTATAAATAGTAACACCCTCATTTGTCATCATTTCCTAAGGTTTTGGAAAGCAACCATGTTCACCTGTTGATACAAAATATTCTTTTTGCGTCTACCCATACACCAATAGGAAAAGGCAAAACAAAAAAAGTACCTTTTTGTTTTAGTAAAACAAGTGCTTGTATTTTATGCCTTGTTTTAGGCCCATTCCAATGTTTCCTGTCATCTGCTCCAAGTATATGAAGTATAACCTGTTTGCTGCTTATTTATTTATTTATTTTGAGATGGAGTCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGGTCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCCCCCTAGTAGCTGGGATTACAGGTGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGTCCTCAGGTGATCCGCCCACCTCGGCCTCCCCAAGTGCTGGGATTACAGGCATGAGCCACCACGGCTAGCCAATAAGCATTTATTTTTAAGCATCTATTGCATACCAGAAGAACAAGACAAAGTTTCTACCCTGCTTATCAAACAACTGAAGTAACATTAGTAAACCGGTTGTTACTACCTCACTGGCTAAGTGCTCAGAGGCGAGTGCCATGGGGCAGCATTCGGTGAAGTACAGGCAGCTCTGTACCAATATTTTTTCTGGGATATTTAGCAAAGGCCCTGTATGAGGAAACCAACTCACCAGTCCACTGTTGTGGCCCATGATGGCTTCCCACAGTGAGTTGTCCATCAAGACTTTCTTGTCTTGAATGTCCATGAGCTGGCTGACGCTGCGGTGAAGAGAACCCTGGGAGTAGGTTAGGCTGGTTTGGTTTTGACTCGGGATGCGCAGGACACATGCACTCCGGTTGCTGCGGATACTCACAGGTGTCCCAGACCGGGAATTTTGGTATCGGCTAACCCCTGAGAAGGAAGTTGCTGTGAGTATTTCACATATAAAGAATATGGGCTTGAAATATGACAGAGAATTGTGTCTCACACATTGTCAGTGAAGGGAATGACTGTCTCCTGACAATTGTCACATTGTCAATGAAGGGAACAACTGTCACCTACAGAATTTAGCAGCTATGAGCACCCACAACACGGTGACCCTGGGTTTCTTGGTAAGAAGGATGAGATGATGAGCTAATACTCAAGTTAGGTGGCCAGTGTTTTCGGCACCTAGAGAGCTCATGCACTGGTGCTCTGGCTGTTGTTCCCTGTGGGGCAAGGGCTTGCTGCATTGCAAAGTGGTGGGGCAAGGCAGACGGATGATGGGTGAACAAGGTATCTTCTTCATACATGTCAGCACAGAGCCTCCCTCTTGAGAACACTCCTCCCCCAGAACAGCCAAAGATAACAATATTATTTCATGGTGGTCCACTATGTGAGCTCCGTTTGTCTTTCACTTTAAAAGTCCTGGATTTGTGTAGGGAAATTGACTCCTCCCTCCCTCATTTCTCATTCCATATTCCTCCATTTCTTATAGGATTCCAGCCTCCAAATTACATCAGGTCTGATATTAACATCAGAGAGAAAAAGTCACTACATAATTTAGACCTAGAACGCGCCGTAAGATAAACTATAGTTGCTCTAAATATCTGAGGGCTCTGATTTAGCTGGTCCAATCAATGAAATGTTTCTGCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTAATTTTTGGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCATTTCTTTTCTTTTTTCAGTAGAGTTTTCACTCATGTTGTTCAGCTTTCCAAGGAATGGATATATGGAAGTCATCAATGATCTGTTCCTGCTTTTCACTGTGCAGTCAACACACCATGCAAAAGATCATGCATTCATGCAGCACACAGAGGTACCTCAAAGTGCATGGTGTAACTTTTTAGGGTGACATTGCTTGACACATCAGATATATCAGCCACAGAGTCAAACTGAGAACAAATGGCAGCATCAGTCCATGTTTGGAACAGTTTTAAACACATTCCTTGCATTTCTCCAATGACAGCATTATCATACCCATATTTAATACTGCTCTGATGTACATATATATCCTAGGATACATACCTGCATATGTATATATGTGTGTGTATATATATGTGTGTGTGTATATATACATATATATGTGAATATATATGTATGTGTATGTGTGTGTGTATATATATATATATATATATATATATATATATATATATATATATGAGAGAGAGAAAGTTGGGTTTTGCAACTAAAACTTCATAGTGAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCCAGCAATTTGGGAGGCCAAGACGGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAGTCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGCTGGAGGTTGCAGTGAGTCGAGATCATGCCACTGCACTCCAGTCTGGATGACAGAAGACTCTGTCTCAAAAACAAACAAATTAAAAAAAAAAAAACCTTGGTGAGTGGAAATTAATTGATTAGTGTCTAAGGTAAGTACCACTGCCAGTATTTGTTTAGTATTGCAGGGAATGAAAGGATCTTCAAACCAGTAATTAAATAACAAGCAAAACTTAAACTTAGCTATACTGTATACTGTATGGTCTTGAAAAATGTTGATGAAATACAAAAGACACN
|
pathogenic
| 21,778
|
Clinically, how would you classify the variant at chromosome 1, position 215634461, gene USH2A (usherin): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Retinitis_pigmentosa_39']
|
CCACAAGAATGATGGGAGTGTCTTCTGGTCACTAAGTTAACCAAGTAAGGAAGACAGTGTTCTTCCTCATGGAGGATTCTGACACAGAGGTGCCTGCCTATAGGGACTGGGTCAAAGGACAGGAGAAAGTATCACTGAAATGACTTCTGGACATTGCTGGTATGTGGGTACACTTTCCTGTAACCGCACCTCACATTATACAGTAGATGTGCCTAGCAGTGCTTGGGAACCTCCCTTTCACCACTCCATGCACTCCATAGACCCTAGTTTCAGTTTAGCTCATCTCCCAGGCTAAACAGATCTCTCCTGCCTTCTTTTCTCTCTTCCACTGCCTTCCTCCAGCAGCAGTGCACCTTCTAGGAACATGGGCTCCTTAAAGAAAGTTATTCTTTAACAAGGAAAAATTTTGAAATATCTGCTCTTCAGTGAGAATCTCCTAATGACTATTCACTGAACAGGAGCAAACAGCCCATGGTTCGAAGTGATCACTCGACATTCATTCATTCAACAAACATTCGTGGAGTGCCTATGATATGCCAGGCACCGTTCTGGGTCCCGGGGCACATACAACAGGAAGAGGCCCACAAGATCATTGATCCTGGGAGCTTACCTTCTATTTCAGGAGTCAGACAAACATATCTGACTTAGTGTTATGTGGTAAATGCTATAGAAAAGAAAAGAAGTGGGTTAAGGGGCTAGGAAATTTTACATAGAATGGGAGGTGACATTTGTGCAGAGATGTGAATGAAGCAAGAGTGTGAGCCACCCAAGGAGCAGCAGCAGTAATGGCCCTGTGGTTAGAGCTTGTCTGATGGGCTCAGGGAGGAAGGAGGCTCCGAGGAGGATGAGTGAGTAGAGGAGTGGGACAGATGTGAGTAGAGAGCCAAGGCCCTGATGGTGTTGGGCAGTGCCTTCTTTGCTTCTCCACCACCACGTCATTGTCCCATTGCTACTTCCCACAAAAACCACAAACCGTGGACCTCGGAGGGCCCACTGCCCTTTTGTGCTCCCAACACTCCTGCTACTTAGGTCTGATCCAGCTATGTTGGGGCTTAACCAGTGGTCATTCATTGCTGAGTGCTGGAAAAGTGAAGAGATCTGGAAGGCAGATGGTGCTGCTGTGTTCACTCACTGCTGTTTTTTTAAATGTTGAAGTGTAAGCAGCTTGACCAGGCTTCTGTGCTTAATTTTAGTACTGCCTAGGGTAGCCACTAGCTAATATAGAACCTTAGTGCAAACTGGAAAAAAGGCACCTCCTCAGGGAGACGTAGCCCTGTGGGCGCCCAGCTTTGGTGAACAGATGGGTACCTGATGAGGATTAGAAAACGCAGCCTTTCCTCCTCCAGGTAGACATAGCCCCACACCAGACTGCACCATGGAATTAAATCACCTTTTACCCTTCAATGAGTGCTCTGGGCAATGACTGTCCTGTAATACCAAGTGATGGGGCCCTCTCCCACTAGACCTTTACTGGACCTCCTATTTTGGGAGTGAGTGGTCTATAGCTAAGAGGAGCCATCCATCCTCTGTGGCACAGGGTGTCAGGACCAGAGGACAGACCGAGCACCACTAGCACTGTAGCCCCTTCCTCCCCATCTCCGCCTTTTAATGTTCATTCCCCGCCACCAAATTACACAGTAATACAACCTATAATTTCCCCAGGTAATCTCAACATACAACTCTTCTCCACCAGGCCCTGGCTTACAATTACAGGGCAGAGATACTCATCCCTAGTTACACATTAAAATCAGTTTTGGAGTGAAGAAAAGAATACCAATCTTCAGGCCCTACTCAAGACCAAGGATATGAGAATTTCTCGGATGAAGTCCAGGCAGTGATATTTTTTAAAGCTTTCCAGGTGATTCTAATGTGCAGCCAAAGTTGAGAAAGCTGTTCTAGGGTTAGCCTCTCTTGGTCCCCACACTTAGTGAAACATAACTTACATCTAATTCCTTGTTACCATGGCTATGACACATTTTTCTCAGAAGGAAAACAAGTATTCTAGTCCAGTGATAGGGAAATGGGGCCACACCTCTACAAACATACCATATGGTTTTCCCCCGGTGGGTAAACATTCAATGGAGACATCCTCTTCTGAAGAGGTACCAAGGGAGGTCTTTCTCTGATATATGGCTCTTTGTGGATTTTTCTTTGTAGTATCAGGGACAGAAAAATGGCCAACAAGATCAAGCCCAGCATCGCCATTAACACTATGAACCACAGCTCGCTGTAGAACTCTGTGCTTTTGCTCCGCGATCCCTTCTTTTTCCCAGGAGTTGTTAGGACCAAGCCTGCAAAACCCAGAGAAAGAAAGGGGAAATGTTATTTCAGAAAGCATTTTTGTCATCTCTGGCCCTGCTATTTGATAGTAAATTAGAGAGGAGTTGAAAGCAGAAAGCAGTTTGTCTCTTACTGCTTGTTTGCACTTGTGTGCAGCCTGGGGTAATGGTTCAGCAGGTTGCTGGGTTATAACGAGATGCTTACAGCCCTTGAGAGGCCTTGCTGACACTTCTGGCGCTGCTGCTCAGGTTGGAAATCACCACTGTCTTGACAAATCCCTGGGAAAGATGGGAGTGTGGGGAGCAATTTTTAAAAGAGGTTACCAAAGTAACCTTGAGGGTCACCTGTTTCATAGCTGTGTGTCTTGGGAGCAAAGTCCTTGCTTGGATTCTCATGAGGGACTGGGACCCTTACTATTATTGCTGCAGAGTCACAAACAAAATCACTCCTTGGAGATCTGAGGTGTACTTGCTTCATGCAACAGTCCAATTCCTGATACTTCGTGCAAACTGGATTTTGAAGCATCAGATTCCATTTTCCATTATGATATTAACAGCCTGTGTTTGCTACCATGTTGTCTTTACATGGCCTCTCTGTTAAAGAGCAAAGCTCAGCAAACCATCACCCAAATGCACTGGGAAAGCTTCCTATGGAAAGAAATCTTTTAGCACTGGAGCCACTTACCTTTGCTTGGCGTTCACACATTGAGAGTTCAGTTGGTGTGAGTCTCTGCACATGAAGTTAGTATTAATAAAAGTAGCTCACATTTAACAAGAATGTACCTGGTGCCAGGTCCTATGCTTAGAGCTTTACAGGGATGAAGGGTGGGTAGGATTATTTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGTGTGATCTCCGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCACGACCTCATGATCCGCCTGCCTCGGCCTTCCAACATGCTGGGATTACAGGCATGAGCCGCCGCACCCAGCCAGGCAGGTTTATTAAGTCTTGTGGGGAAGATAGGAGAGAGGCTGACAAGAATCATGCAGGATAGGCGAAGGCAGTGAAATTATGTTGTCAGCTTGGCAAGCTAAGCAGGGGTGCGGCAGGGGTGGGGGTGGGGTGGCCAGAGATCTGCTCCCATCCAGCCACTGCTGGGGCCAGCACAGAAACCTGTGGATCTGATGCAGCGGCCACACAGGCTGGTGTGGAGATGTGAGCCAGAGAGCTGCTCATCTAAATCTAATACCCACAGCCAGGTCAGAAGAACAAGCAGACACAACTGCAAAGCCCACTCACTCACTGGACAAATCTCCCCCTTTTCAACACCTCTAGAACTCCATGGGCCTGCGTGGTACTTCACACTCACACTAGCAGGGAAAGACTTAAAGGAAAAAAGTTCAGAACTGGGGTGAAACTATTAAAGGCAGGAACAGATGGTGACTAAAACTAAACTTTGAACTCCGTAAGAGGAGGGATATTACTTTGCCAACCCTAACTCTGCTGCCGATCAGCTCTGTGATTAAATGTTGGACTCTGACCTTTGCTTCTCATCTCTAAAATAAAGGGTTGAGTCAACACTCCAATCAAGCTCCAGCAGGTCGAAATTCCCCTAATTAGGAACCAATGTGTGTTGTTTGATTAA
|
CCACAAGAATGATGGGAGTGTCTTCTGGTCACTAAGTTAACCAAGTAAGGAAGACAGTGTTCTTCCTCATGGAGGATTCTGACACAGAGGTGCCTGCCTATAGGGACTGGGTCAAAGGACAGGAGAAAGTATCACTGAAATGACTTCTGGACATTGCTGGTATGTGGGTACACTTTCCTGTAACCGCACCTCACATTATACAGTAGATGTGCCTAGCAGTGCTTGGGAACCTCCCTTTCACCACTCCATGCACTCCATAGACCCTAGTTTCAGTTTAGCTCATCTCCCAGGCTAAACAGATCTCTCCTGCCTTCTTTTCTCTCTTCCACTGCCTTCCTCCAGCAGCAGTGCACCTTCTAGGAACATGGGCTCCTTAAAGAAAGTTATTCTTTAACAAGGAAAAATTTTGAAATATCTGCTCTTCAGTGAGAATCTCCTAATGACTATTCACTGAACAGGAGCAAACAGCCCATGGTTCGAAGTGATCACTCGACATTCATTCATTCAACAAACATTCGTGGAGTGCCTATGATATGCCAGGCACCGTTCTGGGTCCCGGGGCACATACAACAGGAAGAGGCCCACAAGATCATTGATCCTGGGAGCTTACCTTCTATTTCAGGAGTCAGACAAACATATCTGACTTAGTGTTATGTGGTAAATGCTATAGAAAAGAAAAGAAGTGGGTTAAGGGGCTAGGAAATTTTACATAGAATGGGAGGTGACATTTGTGCAGAGATGTGAATGAAGCAAGAGTGTGAGCCACCCAAGGAGCAGCAGCAGTAATGGCCCTGTGGTTAGAGCTTGTCTGATGGGCTCAGGGAGGAAGGAGGCTCCGAGGAGGATGAGTGAGTAGAGGAGTGGGACAGATGTGAGTAGAGAGCCAAGGCCCTGATGGTGTTGGGCAGTGCCTTCTTTGCTTCTCCACCACCACGTCATTGTCCCATTGCTACTTCCCACAAAAACCACAAACCGTGGACCTCGGAGGGCCCACTGCCCTTTTGTGCTCCCAACACTCCTGCTACTTAGGTCTGATCCAGCTATGTTGGGGCTTAACCAGTGGTCATTCATTGCTGAGTGCTGGAAAAGTGAAGAGATCTGGAAGGCAGATGGTGCTGCTGTGTTCACTCACTGCTGTTTTTTTAAATGTTGAAGTGTAAGCAGCTTGACCAGGCTTCTGTGCTTAATTTTAGTACTGCCTAGGGTAGCCACTAGCTAATATAGAACCTTAGTGCAAACTGGAAAAAAGGCACCTCCTCAGGGAGACGTAGCCCTGTGGGCGCCCAGCTTTGGTGAACAGATGGGTACCTGATGAGGATTAGAAAACGCAGCCTTTCCTCCTCCAGGTAGACATAGCCCCACACCAGACTGCACCATGGAATTAAATCACCTTTTACCCTTCAATGAGTGCTCTGGGCAATGACTGTCCTGTAATACCAAGTGATGGGGCCCTCTCCCACTAGACCTTTACTGGACCTCCTATTTTGGGAGTGAGTGGTCTATAGCTAAGAGGAGCCATCCATCCTCTGTGGCACAGGGTGTCAGGACCAGAGGACAGACCGAGCACCACTAGCACTGTAGCCCCTTCCTCCCCATCTCCGCCTTTTAATGTTCATTCCCCGCCACCAAATTACACAGTAATACAACCTATAATTTCCCCAGGTAATCTCAACATACAACTCTTCTCCACCAGGCCCTGGCTTACAATTACAGGGCAGAGATACTCATCCCTAGTTACACATTAAAATCAGTTTTGGAGTGAAGAAAAGAATACCAATCTTCAGGCCCTACTCAAGACCAAGGATATGAGAATTTCTCGGATGAAGTCCAGGCAGTGATATTTTTTAAAGCTTTCCAGGTGATTCTAATGTGCAGCCAAAGTTGAGAAAGCTGTTCTAGGGTTAGCCTCTCTTGGTCCCCACACTTAGTGAAACATAACTTACATCTAATTCCTTGTTACCATGGCTATGACACATTTTTCTCAGAAGGAAAACAAGTATTCTAGTCCAGTGATAGGGAAATGGGGCCACACCTCTACAAACATACCATATGGAGACATCCTCTTCTGAAGAGGTACCAAGGGAGGTCTTTCTCTGATATATGGCTCTTTGTGGATTTTTCTTTGTAGTATCAGGGACAGAAAAATGGCCAACAAGATCAAGCCCAGCATCGCCATTAACACTATGAACCACAGCTCGCTGTAGAACTCTGTGCTTTTGCTCCGCGATCCCTTCTTTTTCCCAGGAGTTGTTAGGACCAAGCCTGCAAAACCCAGAGAAAGAAAGGGGAAATGTTATTTCAGAAAGCATTTTTGTCATCTCTGGCCCTGCTATTTGATAGTAAATTAGAGAGGAGTTGAAAGCAGAAAGCAGTTTGTCTCTTACTGCTTGTTTGCACTTGTGTGCAGCCTGGGGTAATGGTTCAGCAGGTTGCTGGGTTATAACGAGATGCTTACAGCCCTTGAGAGGCCTTGCTGACACTTCTGGCGCTGCTGCTCAGGTTGGAAATCACCACTGTCTTGACAAATCCCTGGGAAAGATGGGAGTGTGGGGAGCAATTTTTAAAAGAGGTTACCAAAGTAACCTTGAGGGTCACCTGTTTCATAGCTGTGTGTCTTGGGAGCAAAGTCCTTGCTTGGATTCTCATGAGGGACTGGGACCCTTACTATTATTGCTGCAGAGTCACAAACAAAATCACTCCTTGGAGATCTGAGGTGTACTTGCTTCATGCAACAGTCCAATTCCTGATACTTCGTGCAAACTGGATTTTGAAGCATCAGATTCCATTTTCCATTATGATATTAACAGCCTGTGTTTGCTACCATGTTGTCTTTACATGGCCTCTCTGTTAAAGAGCAAAGCTCAGCAAACCATCACCCAAATGCACTGGGAAAGCTTCCTATGGAAAGAAATCTTTTAGCACTGGAGCCACTTACCTTTGCTTGGCGTTCACACATTGAGAGTTCAGTTGGTGTGAGTCTCTGCACATGAAGTTAGTATTAATAAAAGTAGCTCACATTTAACAAGAATGTACCTGGTGCCAGGTCCTATGCTTAGAGCTTTACAGGGATGAAGGGTGGGTAGGATTATTTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGTGTGATCTCCGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCACGACCTCATGATCCGCCTGCCTCGGCCTTCCAACATGCTGGGATTACAGGCATGAGCCGCCGCACCCAGCCAGGCAGGTTTATTAAGTCTTGTGGGGAAGATAGGAGAGAGGCTGACAAGAATCATGCAGGATAGGCGAAGGCAGTGAAATTATGTTGTCAGCTTGGCAAGCTAAGCAGGGGTGCGGCAGGGGTGGGGGTGGGGTGGCCAGAGATCTGCTCCCATCCAGCCACTGCTGGGGCCAGCACAGAAACCTGTGGATCTGATGCAGCGGCCACACAGGCTGGTGTGGAGATGTGAGCCAGAGAGCTGCTCATCTAAATCTAATACCCACAGCCAGGTCAGAAGAACAAGCAGACACAACTGCAAAGCCCACTCACTCACTGGACAAATCTCCCCCTTTTCAACACCTCTAGAACTCCATGGGCCTGCGTGGTACTTCACACTCACACTAGCAGGGAAAGACTTAAAGGAAAAAAGTTCAGAACTGGGGTGAAACTATTAAAGGCAGGAACAGATGGTGACTAAAACTAAACTTTGAACTCCGTAAGAGGAGGGATATTACTTTGCCAACCCTAACTCTGCTGCCGATCAGCTCTGTGATTAAATGTTGGACTCTGACCTTTGCTTCTCATCTCTAAAATAAAGGGTTGAGTCAACACTCCAATCAAGCTCCAGCAGGTCGAAATTCCCCTAATTAGGAACCAATGTGTGTTGTTTGATTAANNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 21,784
|
Determine if the mutation at chromosome 1, position 215634492 in gene USH2A (usherin) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A']
|
CTAAGTTAACCAAGTAAGGAAGACAGTGTTCTTCCTCATGGAGGATTCTGACACAGAGGTGCCTGCCTATAGGGACTGGGTCAAAGGACAGGAGAAAGTATCACTGAAATGACTTCTGGACATTGCTGGTATGTGGGTACACTTTCCTGTAACCGCACCTCACATTATACAGTAGATGTGCCTAGCAGTGCTTGGGAACCTCCCTTTCACCACTCCATGCACTCCATAGACCCTAGTTTCAGTTTAGCTCATCTCCCAGGCTAAACAGATCTCTCCTGCCTTCTTTTCTCTCTTCCACTGCCTTCCTCCAGCAGCAGTGCACCTTCTAGGAACATGGGCTCCTTAAAGAAAGTTATTCTTTAACAAGGAAAAATTTTGAAATATCTGCTCTTCAGTGAGAATCTCCTAATGACTATTCACTGAACAGGAGCAAACAGCCCATGGTTCGAAGTGATCACTCGACATTCATTCATTCAACAAACATTCGTGGAGTGCCTATGATATGCCAGGCACCGTTCTGGGTCCCGGGGCACATACAACAGGAAGAGGCCCACAAGATCATTGATCCTGGGAGCTTACCTTCTATTTCAGGAGTCAGACAAACATATCTGACTTAGTGTTATGTGGTAAATGCTATAGAAAAGAAAAGAAGTGGGTTAAGGGGCTAGGAAATTTTACATAGAATGGGAGGTGACATTTGTGCAGAGATGTGAATGAAGCAAGAGTGTGAGCCACCCAAGGAGCAGCAGCAGTAATGGCCCTGTGGTTAGAGCTTGTCTGATGGGCTCAGGGAGGAAGGAGGCTCCGAGGAGGATGAGTGAGTAGAGGAGTGGGACAGATGTGAGTAGAGAGCCAAGGCCCTGATGGTGTTGGGCAGTGCCTTCTTTGCTTCTCCACCACCACGTCATTGTCCCATTGCTACTTCCCACAAAAACCACAAACCGTGGACCTCGGAGGGCCCACTGCCCTTTTGTGCTCCCAACACTCCTGCTACTTAGGTCTGATCCAGCTATGTTGGGGCTTAACCAGTGGTCATTCATTGCTGAGTGCTGGAAAAGTGAAGAGATCTGGAAGGCAGATGGTGCTGCTGTGTTCACTCACTGCTGTTTTTTTAAATGTTGAAGTGTAAGCAGCTTGACCAGGCTTCTGTGCTTAATTTTAGTACTGCCTAGGGTAGCCACTAGCTAATATAGAACCTTAGTGCAAACTGGAAAAAAGGCACCTCCTCAGGGAGACGTAGCCCTGTGGGCGCCCAGCTTTGGTGAACAGATGGGTACCTGATGAGGATTAGAAAACGCAGCCTTTCCTCCTCCAGGTAGACATAGCCCCACACCAGACTGCACCATGGAATTAAATCACCTTTTACCCTTCAATGAGTGCTCTGGGCAATGACTGTCCTGTAATACCAAGTGATGGGGCCCTCTCCCACTAGACCTTTACTGGACCTCCTATTTTGGGAGTGAGTGGTCTATAGCTAAGAGGAGCCATCCATCCTCTGTGGCACAGGGTGTCAGGACCAGAGGACAGACCGAGCACCACTAGCACTGTAGCCCCTTCCTCCCCATCTCCGCCTTTTAATGTTCATTCCCCGCCACCAAATTACACAGTAATACAACCTATAATTTCCCCAGGTAATCTCAACATACAACTCTTCTCCACCAGGCCCTGGCTTACAATTACAGGGCAGAGATACTCATCCCTAGTTACACATTAAAATCAGTTTTGGAGTGAAGAAAAGAATACCAATCTTCAGGCCCTACTCAAGACCAAGGATATGAGAATTTCTCGGATGAAGTCCAGGCAGTGATATTTTTTAAAGCTTTCCAGGTGATTCTAATGTGCAGCCAAAGTTGAGAAAGCTGTTCTAGGGTTAGCCTCTCTTGGTCCCCACACTTAGTGAAACATAACTTACATCTAATTCCTTGTTACCATGGCTATGACACATTTTTCTCAGAAGGAAAACAAGTATTCTAGTCCAGTGATAGGGAAATGGGGCCACACCTCTACAAACATACCATATGGTTTTCCCCCGGTGGGTAAACATTCAATGGAGACATCCTCTTCTGAAGAGGTACCAAGGGAGGTCTTTCTCTGATATATGGCTCTTTGTGGATTTTTCTTTGTAGTATCAGGGACAGAAAAATGGCCAACAAGATCAAGCCCAGCATCGCCATTAACACTATGAACCACAGCTCGCTGTAGAACTCTGTGCTTTTGCTCCGCGATCCCTTCTTTTTCCCAGGAGTTGTTAGGACCAAGCCTGCAAAACCCAGAGAAAGAAAGGGGAAATGTTATTTCAGAAAGCATTTTTGTCATCTCTGGCCCTGCTATTTGATAGTAAATTAGAGAGGAGTTGAAAGCAGAAAGCAGTTTGTCTCTTACTGCTTGTTTGCACTTGTGTGCAGCCTGGGGTAATGGTTCAGCAGGTTGCTGGGTTATAACGAGATGCTTACAGCCCTTGAGAGGCCTTGCTGACACTTCTGGCGCTGCTGCTCAGGTTGGAAATCACCACTGTCTTGACAAATCCCTGGGAAAGATGGGAGTGTGGGGAGCAATTTTTAAAAGAGGTTACCAAAGTAACCTTGAGGGTCACCTGTTTCATAGCTGTGTGTCTTGGGAGCAAAGTCCTTGCTTGGATTCTCATGAGGGACTGGGACCCTTACTATTATTGCTGCAGAGTCACAAACAAAATCACTCCTTGGAGATCTGAGGTGTACTTGCTTCATGCAACAGTCCAATTCCTGATACTTCGTGCAAACTGGATTTTGAAGCATCAGATTCCATTTTCCATTATGATATTAACAGCCTGTGTTTGCTACCATGTTGTCTTTACATGGCCTCTCTGTTAAAGAGCAAAGCTCAGCAAACCATCACCCAAATGCACTGGGAAAGCTTCCTATGGAAAGAAATCTTTTAGCACTGGAGCCACTTACCTTTGCTTGGCGTTCACACATTGAGAGTTCAGTTGGTGTGAGTCTCTGCACATGAAGTTAGTATTAATAAAAGTAGCTCACATTTAACAAGAATGTACCTGGTGCCAGGTCCTATGCTTAGAGCTTTACAGGGATGAAGGGTGGGTAGGATTATTTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGTGTGATCTCCGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCACGACCTCATGATCCGCCTGCCTCGGCCTTCCAACATGCTGGGATTACAGGCATGAGCCGCCGCACCCAGCCAGGCAGGTTTATTAAGTCTTGTGGGGAAGATAGGAGAGAGGCTGACAAGAATCATGCAGGATAGGCGAAGGCAGTGAAATTATGTTGTCAGCTTGGCAAGCTAAGCAGGGGTGCGGCAGGGGTGGGGGTGGGGTGGCCAGAGATCTGCTCCCATCCAGCCACTGCTGGGGCCAGCACAGAAACCTGTGGATCTGATGCAGCGGCCACACAGGCTGGTGTGGAGATGTGAGCCAGAGAGCTGCTCATCTAAATCTAATACCCACAGCCAGGTCAGAAGAACAAGCAGACACAACTGCAAAGCCCACTCACTCACTGGACAAATCTCCCCCTTTTCAACACCTCTAGAACTCCATGGGCCTGCGTGGTACTTCACACTCACACTAGCAGGGAAAGACTTAAAGGAAAAAAGTTCAGAACTGGGGTGAAACTATTAAAGGCAGGAACAGATGGTGACTAAAACTAAACTTTGAACTCCGTAAGAGGAGGGATATTACTTTGCCAACCCTAACTCTGCTGCCGATCAGCTCTGTGATTAAATGTTGGACTCTGACCTTTGCTTCTCATCTCTAAAATAAAGGGTTGAGTCAACACTCCAATCAAGCTCCAGCAGGTCGAAATTCCCCTAATTAGGAACCAATGTGTGTTGTTTGATTAAAAACAAACCAGCCTAGGTTGCACACTAAAAG
|
CTAAGTTAACCAAGTAAGGAAGACAGTGTTCTTCCTCATGGAGGATTCTGACACAGAGGTGCCTGCCTATAGGGACTGGGTCAAAGGACAGGAGAAAGTATCACTGAAATGACTTCTGGACATTGCTGGTATGTGGGTACACTTTCCTGTAACCGCACCTCACATTATACAGTAGATGTGCCTAGCAGTGCTTGGGAACCTCCCTTTCACCACTCCATGCACTCCATAGACCCTAGTTTCAGTTTAGCTCATCTCCCAGGCTAAACAGATCTCTCCTGCCTTCTTTTCTCTCTTCCACTGCCTTCCTCCAGCAGCAGTGCACCTTCTAGGAACATGGGCTCCTTAAAGAAAGTTATTCTTTAACAAGGAAAAATTTTGAAATATCTGCTCTTCAGTGAGAATCTCCTAATGACTATTCACTGAACAGGAGCAAACAGCCCATGGTTCGAAGTGATCACTCGACATTCATTCATTCAACAAACATTCGTGGAGTGCCTATGATATGCCAGGCACCGTTCTGGGTCCCGGGGCACATACAACAGGAAGAGGCCCACAAGATCATTGATCCTGGGAGCTTACCTTCTATTTCAGGAGTCAGACAAACATATCTGACTTAGTGTTATGTGGTAAATGCTATAGAAAAGAAAAGAAGTGGGTTAAGGGGCTAGGAAATTTTACATAGAATGGGAGGTGACATTTGTGCAGAGATGTGAATGAAGCAAGAGTGTGAGCCACCCAAGGAGCAGCAGCAGTAATGGCCCTGTGGTTAGAGCTTGTCTGATGGGCTCAGGGAGGAAGGAGGCTCCGAGGAGGATGAGTGAGTAGAGGAGTGGGACAGATGTGAGTAGAGAGCCAAGGCCCTGATGGTGTTGGGCAGTGCCTTCTTTGCTTCTCCACCACCACGTCATTGTCCCATTGCTACTTCCCACAAAAACCACAAACCGTGGACCTCGGAGGGCCCACTGCCCTTTTGTGCTCCCAACACTCCTGCTACTTAGGTCTGATCCAGCTATGTTGGGGCTTAACCAGTGGTCATTCATTGCTGAGTGCTGGAAAAGTGAAGAGATCTGGAAGGCAGATGGTGCTGCTGTGTTCACTCACTGCTGTTTTTTTAAATGTTGAAGTGTAAGCAGCTTGACCAGGCTTCTGTGCTTAATTTTAGTACTGCCTAGGGTAGCCACTAGCTAATATAGAACCTTAGTGCAAACTGGAAAAAAGGCACCTCCTCAGGGAGACGTAGCCCTGTGGGCGCCCAGCTTTGGTGAACAGATGGGTACCTGATGAGGATTAGAAAACGCAGCCTTTCCTCCTCCAGGTAGACATAGCCCCACACCAGACTGCACCATGGAATTAAATCACCTTTTACCCTTCAATGAGTGCTCTGGGCAATGACTGTCCTGTAATACCAAGTGATGGGGCCCTCTCCCACTAGACCTTTACTGGACCTCCTATTTTGGGAGTGAGTGGTCTATAGCTAAGAGGAGCCATCCATCCTCTGTGGCACAGGGTGTCAGGACCAGAGGACAGACCGAGCACCACTAGCACTGTAGCCCCTTCCTCCCCATCTCCGCCTTTTAATGTTCATTCCCCGCCACCAAATTACACAGTAATACAACCTATAATTTCCCCAGGTAATCTCAACATACAACTCTTCTCCACCAGGCCCTGGCTTACAATTACAGGGCAGAGATACTCATCCCTAGTTACACATTAAAATCAGTTTTGGAGTGAAGAAAAGAATACCAATCTTCAGGCCCTACTCAAGACCAAGGATATGAGAATTTCTCGGATGAAGTCCAGGCAGTGATATTTTTTAAAGCTTTCCAGGTGATTCTAATGTGCAGCCAAAGTTGAGAAAGCTGTTCTAGGGTTAGCCTCTCTTGGTCCCCACACTTAGTGAAACATAACTTACATCTAATTCCTTGTTACCATGGCTATGACACATTTTTCTCAGAAGGAAAACAAGTATTCTAGTCCAGTGATAGGGAAATGGGGCCACACCTCTACAAACATACCATATGGTTTTCCCCCGGTGGGTAAACATTCAATGGAGGGAGACATCCTCTTCTGAAGAGGTACCAAGGGAGGTCTTTCTCTGATATATGGCTCTTTGTGGATTTTTCTTTGTAGTATCAGGGACAGAAAAATGGCCAACAAGATCAAGCCCAGCATCGCCATTAACACTATGAACCACAGCTCGCTGTAGAACTCTGTGCTTTTGCTCCGCGATCCCTTCTTTTTCCCAGGAGTTGTTAGGACCAAGCCTGCAAAACCCAGAGAAAGAAAGGGGAAATGTTATTTCAGAAAGCATTTTTGTCATCTCTGGCCCTGCTATTTGATAGTAAATTAGAGAGGAGTTGAAAGCAGAAAGCAGTTTGTCTCTTACTGCTTGTTTGCACTTGTGTGCAGCCTGGGGTAATGGTTCAGCAGGTTGCTGGGTTATAACGAGATGCTTACAGCCCTTGAGAGGCCTTGCTGACACTTCTGGCGCTGCTGCTCAGGTTGGAAATCACCACTGTCTTGACAAATCCCTGGGAAAGATGGGAGTGTGGGGAGCAATTTTTAAAAGAGGTTACCAAAGTAACCTTGAGGGTCACCTGTTTCATAGCTGTGTGTCTTGGGAGCAAAGTCCTTGCTTGGATTCTCATGAGGGACTGGGACCCTTACTATTATTGCTGCAGAGTCACAAACAAAATCACTCCTTGGAGATCTGAGGTGTACTTGCTTCATGCAACAGTCCAATTCCTGATACTTCGTGCAAACTGGATTTTGAAGCATCAGATTCCATTTTCCATTATGATATTAACAGCCTGTGTTTGCTACCATGTTGTCTTTACATGGCCTCTCTGTTAAAGAGCAAAGCTCAGCAAACCATCACCCAAATGCACTGGGAAAGCTTCCTATGGAAAGAAATCTTTTAGCACTGGAGCCACTTACCTTTGCTTGGCGTTCACACATTGAGAGTTCAGTTGGTGTGAGTCTCTGCACATGAAGTTAGTATTAATAAAAGTAGCTCACATTTAACAAGAATGTACCTGGTGCCAGGTCCTATGCTTAGAGCTTTACAGGGATGAAGGGTGGGTAGGATTATTTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGTGTGATCTCCGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCACGACCTCATGATCCGCCTGCCTCGGCCTTCCAACATGCTGGGATTACAGGCATGAGCCGCCGCACCCAGCCAGGCAGGTTTATTAAGTCTTGTGGGGAAGATAGGAGAGAGGCTGACAAGAATCATGCAGGATAGGCGAAGGCAGTGAAATTATGTTGTCAGCTTGGCAAGCTAAGCAGGGGTGCGGCAGGGGTGGGGGTGGGGTGGCCAGAGATCTGCTCCCATCCAGCCACTGCTGGGGCCAGCACAGAAACCTGTGGATCTGATGCAGCGGCCACACAGGCTGGTGTGGAGATGTGAGCCAGAGAGCTGCTCATCTAAATCTAATACCCACAGCCAGGTCAGAAGAACAAGCAGACACAACTGCAAAGCCCACTCACTCACTGGACAAATCTCCCCCTTTTCAACACCTCTAGAACTCCATGGGCCTGCGTGGTACTTCACACTCACACTAGCAGGGAAAGACTTAAAGGAAAAAAGTTCAGAACTGGGGTGAAACTATTAAAGGCAGGAACAGATGGTGACTAAAACTAAACTTTGAACTCCGTAAGAGGAGGGATATTACTTTGCCAACCCTAACTCTGCTGCCGATCAGCTCTGTGATTAAATGTTGGACTCTGACCTTTGCTTCTCATCTCTAAAATAAAGGGTTGAGTCAACACTCCAATCAAGCTCCAGCAGGTCGAAATTCCCCTAATTAGGAACCAATGTGTGTTGTTTGATTAAAAACAAACCAGCCTAGGTTGCACACTA
|
pathogenic
| 21,785
|
A genetic variant on chromosome 1, position 215634555, affects the gene USH2A (usherin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A']
|
TGCCTATAGGGACTGGGTCAAAGGACAGGAGAAAGTATCACTGAAATGACTTCTGGACATTGCTGGTATGTGGGTACACTTTCCTGTAACCGCACCTCACATTATACAGTAGATGTGCCTAGCAGTGCTTGGGAACCTCCCTTTCACCACTCCATGCACTCCATAGACCCTAGTTTCAGTTTAGCTCATCTCCCAGGCTAAACAGATCTCTCCTGCCTTCTTTTCTCTCTTCCACTGCCTTCCTCCAGCAGCAGTGCACCTTCTAGGAACATGGGCTCCTTAAAGAAAGTTATTCTTTAACAAGGAAAAATTTTGAAATATCTGCTCTTCAGTGAGAATCTCCTAATGACTATTCACTGAACAGGAGCAAACAGCCCATGGTTCGAAGTGATCACTCGACATTCATTCATTCAACAAACATTCGTGGAGTGCCTATGATATGCCAGGCACCGTTCTGGGTCCCGGGGCACATACAACAGGAAGAGGCCCACAAGATCATTGATCCTGGGAGCTTACCTTCTATTTCAGGAGTCAGACAAACATATCTGACTTAGTGTTATGTGGTAAATGCTATAGAAAAGAAAAGAAGTGGGTTAAGGGGCTAGGAAATTTTACATAGAATGGGAGGTGACATTTGTGCAGAGATGTGAATGAAGCAAGAGTGTGAGCCACCCAAGGAGCAGCAGCAGTAATGGCCCTGTGGTTAGAGCTTGTCTGATGGGCTCAGGGAGGAAGGAGGCTCCGAGGAGGATGAGTGAGTAGAGGAGTGGGACAGATGTGAGTAGAGAGCCAAGGCCCTGATGGTGTTGGGCAGTGCCTTCTTTGCTTCTCCACCACCACGTCATTGTCCCATTGCTACTTCCCACAAAAACCACAAACCGTGGACCTCGGAGGGCCCACTGCCCTTTTGTGCTCCCAACACTCCTGCTACTTAGGTCTGATCCAGCTATGTTGGGGCTTAACCAGTGGTCATTCATTGCTGAGTGCTGGAAAAGTGAAGAGATCTGGAAGGCAGATGGTGCTGCTGTGTTCACTCACTGCTGTTTTTTTAAATGTTGAAGTGTAAGCAGCTTGACCAGGCTTCTGTGCTTAATTTTAGTACTGCCTAGGGTAGCCACTAGCTAATATAGAACCTTAGTGCAAACTGGAAAAAAGGCACCTCCTCAGGGAGACGTAGCCCTGTGGGCGCCCAGCTTTGGTGAACAGATGGGTACCTGATGAGGATTAGAAAACGCAGCCTTTCCTCCTCCAGGTAGACATAGCCCCACACCAGACTGCACCATGGAATTAAATCACCTTTTACCCTTCAATGAGTGCTCTGGGCAATGACTGTCCTGTAATACCAAGTGATGGGGCCCTCTCCCACTAGACCTTTACTGGACCTCCTATTTTGGGAGTGAGTGGTCTATAGCTAAGAGGAGCCATCCATCCTCTGTGGCACAGGGTGTCAGGACCAGAGGACAGACCGAGCACCACTAGCACTGTAGCCCCTTCCTCCCCATCTCCGCCTTTTAATGTTCATTCCCCGCCACCAAATTACACAGTAATACAACCTATAATTTCCCCAGGTAATCTCAACATACAACTCTTCTCCACCAGGCCCTGGCTTACAATTACAGGGCAGAGATACTCATCCCTAGTTACACATTAAAATCAGTTTTGGAGTGAAGAAAAGAATACCAATCTTCAGGCCCTACTCAAGACCAAGGATATGAGAATTTCTCGGATGAAGTCCAGGCAGTGATATTTTTTAAAGCTTTCCAGGTGATTCTAATGTGCAGCCAAAGTTGAGAAAGCTGTTCTAGGGTTAGCCTCTCTTGGTCCCCACACTTAGTGAAACATAACTTACATCTAATTCCTTGTTACCATGGCTATGACACATTTTTCTCAGAAGGAAAACAAGTATTCTAGTCCAGTGATAGGGAAATGGGGCCACACCTCTACAAACATACCATATGGTTTTCCCCCGGTGGGTAAACATTCAATGGAGACATCCTCTTCTGAAGAGGTACCAAGGGAGGTCTTTCTCTGATATATGGCTCTTTGTGGATTTTTCTTTGTAGTATCAGGGACAGAAAAATGGCCAACAAGATCAAGCCCAGCATCGCCATTAACACTATGAACCACAGCTCGCTGTAGAACTCTGTGCTTTTGCTCCGCGATCCCTTCTTTTTCCCAGGAGTTGTTAGGACCAAGCCTGCAAAACCCAGAGAAAGAAAGGGGAAATGTTATTTCAGAAAGCATTTTTGTCATCTCTGGCCCTGCTATTTGATAGTAAATTAGAGAGGAGTTGAAAGCAGAAAGCAGTTTGTCTCTTACTGCTTGTTTGCACTTGTGTGCAGCCTGGGGTAATGGTTCAGCAGGTTGCTGGGTTATAACGAGATGCTTACAGCCCTTGAGAGGCCTTGCTGACACTTCTGGCGCTGCTGCTCAGGTTGGAAATCACCACTGTCTTGACAAATCCCTGGGAAAGATGGGAGTGTGGGGAGCAATTTTTAAAAGAGGTTACCAAAGTAACCTTGAGGGTCACCTGTTTCATAGCTGTGTGTCTTGGGAGCAAAGTCCTTGCTTGGATTCTCATGAGGGACTGGGACCCTTACTATTATTGCTGCAGAGTCACAAACAAAATCACTCCTTGGAGATCTGAGGTGTACTTGCTTCATGCAACAGTCCAATTCCTGATACTTCGTGCAAACTGGATTTTGAAGCATCAGATTCCATTTTCCATTATGATATTAACAGCCTGTGTTTGCTACCATGTTGTCTTTACATGGCCTCTCTGTTAAAGAGCAAAGCTCAGCAAACCATCACCCAAATGCACTGGGAAAGCTTCCTATGGAAAGAAATCTTTTAGCACTGGAGCCACTTACCTTTGCTTGGCGTTCACACATTGAGAGTTCAGTTGGTGTGAGTCTCTGCACATGAAGTTAGTATTAATAAAAGTAGCTCACATTTAACAAGAATGTACCTGGTGCCAGGTCCTATGCTTAGAGCTTTACAGGGATGAAGGGTGGGTAGGATTATTTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGTGTGATCTCCGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCACGACCTCATGATCCGCCTGCCTCGGCCTTCCAACATGCTGGGATTACAGGCATGAGCCGCCGCACCCAGCCAGGCAGGTTTATTAAGTCTTGTGGGGAAGATAGGAGAGAGGCTGACAAGAATCATGCAGGATAGGCGAAGGCAGTGAAATTATGTTGTCAGCTTGGCAAGCTAAGCAGGGGTGCGGCAGGGGTGGGGGTGGGGTGGCCAGAGATCTGCTCCCATCCAGCCACTGCTGGGGCCAGCACAGAAACCTGTGGATCTGATGCAGCGGCCACACAGGCTGGTGTGGAGATGTGAGCCAGAGAGCTGCTCATCTAAATCTAATACCCACAGCCAGGTCAGAAGAACAAGCAGACACAACTGCAAAGCCCACTCACTCACTGGACAAATCTCCCCCTTTTCAACACCTCTAGAACTCCATGGGCCTGCGTGGTACTTCACACTCACACTAGCAGGGAAAGACTTAAAGGAAAAAAGTTCAGAACTGGGGTGAAACTATTAAAGGCAGGAACAGATGGTGACTAAAACTAAACTTTGAACTCCGTAAGAGGAGGGATATTACTTTGCCAACCCTAACTCTGCTGCCGATCAGCTCTGTGATTAAATGTTGGACTCTGACCTTTGCTTCTCATCTCTAAAATAAAGGGTTGAGTCAACACTCCAATCAAGCTCCAGCAGGTCGAAATTCCCCTAATTAGGAACCAATGTGTGTTGTTTGATTAAAAACAAACCAGCCTAGGTTGCACACTAAAAGAGTTGTTTCCTCTGTGTGTGGCACAGAGAGAAAACAACTTGTTGGCTGTAACTCCAGAAACTG
|
TGCCTATAGGGACTGGGTCAAAGGACAGGAGAAAGTATCACTGAAATGACTTCTGGACATTGCTGGTATGTGGGTACACTTTCCTGTAACCGCACCTCACATTATACAGTAGATGTGCCTAGCAGTGCTTGGGAACCTCCCTTTCACCACTCCATGCACTCCATAGACCCTAGTTTCAGTTTAGCTCATCTCCCAGGCTAAACAGATCTCTCCTGCCTTCTTTTCTCTCTTCCACTGCCTTCCTCCAGCAGCAGTGCACCTTCTAGGAACATGGGCTCCTTAAAGAAAGTTATTCTTTAACAAGGAAAAATTTTGAAATATCTGCTCTTCAGTGAGAATCTCCTAATGACTATTCACTGAACAGGAGCAAACAGCCCATGGTTCGAAGTGATCACTCGACATTCATTCATTCAACAAACATTCGTGGAGTGCCTATGATATGCCAGGCACCGTTCTGGGTCCCGGGGCACATACAACAGGAAGAGGCCCACAAGATCATTGATCCTGGGAGCTTACCTTCTATTTCAGGAGTCAGACAAACATATCTGACTTAGTGTTATGTGGTAAATGCTATAGAAAAGAAAAGAAGTGGGTTAAGGGGCTAGGAAATTTTACATAGAATGGGAGGTGACATTTGTGCAGAGATGTGAATGAAGCAAGAGTGTGAGCCACCCAAGGAGCAGCAGCAGTAATGGCCCTGTGGTTAGAGCTTGTCTGATGGGCTCAGGGAGGAAGGAGGCTCCGAGGAGGATGAGTGAGTAGAGGAGTGGGACAGATGTGAGTAGAGAGCCAAGGCCCTGATGGTGTTGGGCAGTGCCTTCTTTGCTTCTCCACCACCACGTCATTGTCCCATTGCTACTTCCCACAAAAACCACAAACCGTGGACCTCGGAGGGCCCACTGCCCTTTTGTGCTCCCAACACTCCTGCTACTTAGGTCTGATCCAGCTATGTTGGGGCTTAACCAGTGGTCATTCATTGCTGAGTGCTGGAAAAGTGAAGAGATCTGGAAGGCAGATGGTGCTGCTGTGTTCACTCACTGCTGTTTTTTTAAATGTTGAAGTGTAAGCAGCTTGACCAGGCTTCTGTGCTTAATTTTAGTACTGCCTAGGGTAGCCACTAGCTAATATAGAACCTTAGTGCAAACTGGAAAAAAGGCACCTCCTCAGGGAGACGTAGCCCTGTGGGCGCCCAGCTTTGGTGAACAGATGGGTACCTGATGAGGATTAGAAAACGCAGCCTTTCCTCCTCCAGGTAGACATAGCCCCACACCAGACTGCACCATGGAATTAAATCACCTTTTACCCTTCAATGAGTGCTCTGGGCAATGACTGTCCTGTAATACCAAGTGATGGGGCCCTCTCCCACTAGACCTTTACTGGACCTCCTATTTTGGGAGTGAGTGGTCTATAGCTAAGAGGAGCCATCCATCCTCTGTGGCACAGGGTGTCAGGACCAGAGGACAGACCGAGCACCACTAGCACTGTAGCCCCTTCCTCCCCATCTCCGCCTTTTAATGTTCATTCCCCGCCACCAAATTACACAGTAATACAACCTATAATTTCCCCAGGTAATCTCAACATACAACTCTTCTCCACCAGGCCCTGGCTTACAATTACAGGGCAGAGATACTCATCCCTAGTTACACATTAAAATCAGTTTTGGAGTGAAGAAAAGAATACCAATCTTCAGGCCCTACTCAAGACCAAGGATATGAGAATTTCTCGGATGAAGTCCAGGCAGTGATATTTTTTAAAGCTTTCCAGGTGATTCTAATGTGCAGCCAAAGTTGAGAAAGCTGTTCTAGGGTTAGCCTCTCTTGGTCCCCACACTTAGTGAAACATAACTTACATCTAATTCCTTGTTACCATGGCTATGACACATTTTTCTCAGAAGGAAAACAAGTATTCTAGTCCAGTGATAGGGAAATGGGGCCACACCTCTACAAACATACCATATGGTTTTCCCCCGGTGGGTAAACATTCAATGGAGACATCCTCTTCTGAAGAGGTACCAAGGGAGGTCTTTCTCTGATATATGGCTCTTTGTGGTTTTTCTTTGTAGTATCAGGGACAGAAAAATGGCCAACAAGATCAAGCCCAGCATCGCCATTAACACTATGAACCACAGCTCGCTGTAGAACTCTGTGCTTTTGCTCCGCGATCCCTTCTTTTTCCCAGGAGTTGTTAGGACCAAGCCTGCAAAACCCAGAGAAAGAAAGGGGAAATGTTATTTCAGAAAGCATTTTTGTCATCTCTGGCCCTGCTATTTGATAGTAAATTAGAGAGGAGTTGAAAGCAGAAAGCAGTTTGTCTCTTACTGCTTGTTTGCACTTGTGTGCAGCCTGGGGTAATGGTTCAGCAGGTTGCTGGGTTATAACGAGATGCTTACAGCCCTTGAGAGGCCTTGCTGACACTTCTGGCGCTGCTGCTCAGGTTGGAAATCACCACTGTCTTGACAAATCCCTGGGAAAGATGGGAGTGTGGGGAGCAATTTTTAAAAGAGGTTACCAAAGTAACCTTGAGGGTCACCTGTTTCATAGCTGTGTGTCTTGGGAGCAAAGTCCTTGCTTGGATTCTCATGAGGGACTGGGACCCTTACTATTATTGCTGCAGAGTCACAAACAAAATCACTCCTTGGAGATCTGAGGTGTACTTGCTTCATGCAACAGTCCAATTCCTGATACTTCGTGCAAACTGGATTTTGAAGCATCAGATTCCATTTTCCATTATGATATTAACAGCCTGTGTTTGCTACCATGTTGTCTTTACATGGCCTCTCTGTTAAAGAGCAAAGCTCAGCAAACCATCACCCAAATGCACTGGGAAAGCTTCCTATGGAAAGAAATCTTTTAGCACTGGAGCCACTTACCTTTGCTTGGCGTTCACACATTGAGAGTTCAGTTGGTGTGAGTCTCTGCACATGAAGTTAGTATTAATAAAAGTAGCTCACATTTAACAAGAATGTACCTGGTGCCAGGTCCTATGCTTAGAGCTTTACAGGGATGAAGGGTGGGTAGGATTATTTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGTGTGATCTCCGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCACGACCTCATGATCCGCCTGCCTCGGCCTTCCAACATGCTGGGATTACAGGCATGAGCCGCCGCACCCAGCCAGGCAGGTTTATTAAGTCTTGTGGGGAAGATAGGAGAGAGGCTGACAAGAATCATGCAGGATAGGCGAAGGCAGTGAAATTATGTTGTCAGCTTGGCAAGCTAAGCAGGGGTGCGGCAGGGGTGGGGGTGGGGTGGCCAGAGATCTGCTCCCATCCAGCCACTGCTGGGGCCAGCACAGAAACCTGTGGATCTGATGCAGCGGCCACACAGGCTGGTGTGGAGATGTGAGCCAGAGAGCTGCTCATCTAAATCTAATACCCACAGCCAGGTCAGAAGAACAAGCAGACACAACTGCAAAGCCCACTCACTCACTGGACAAATCTCCCCCTTTTCAACACCTCTAGAACTCCATGGGCCTGCGTGGTACTTCACACTCACACTAGCAGGGAAAGACTTAAAGGAAAAAAGTTCAGAACTGGGGTGAAACTATTAAAGGCAGGAACAGATGGTGACTAAAACTAAACTTTGAACTCCGTAAGAGGAGGGATATTACTTTGCCAACCCTAACTCTGCTGCCGATCAGCTCTGTGATTAAATGTTGGACTCTGACCTTTGCTTCTCATCTCTAAAATAAAGGGTTGAGTCAACACTCCAATCAAGCTCCAGCAGGTCGAAATTCCCCTAATTAGGAACCAATGTGTGTTGTTTGATTAAAAACAAACCAGCCTAGGTTGCACACTAAAAGAGTTGTTTCCTCTGTGTGTGGCACAGAGAGAAAACAACTTGTTGGCTGTAACTCCAGAAACTGN
|
pathogenic
| 21,786
|
Chromosome 1, position 215634629, gene USH2A (usherin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Retinitis_pigmentosa_39']
|
TACACTTTCCTGTAACCGCACCTCACATTATACAGTAGATGTGCCTAGCAGTGCTTGGGAACCTCCCTTTCACCACTCCATGCACTCCATAGACCCTAGTTTCAGTTTAGCTCATCTCCCAGGCTAAACAGATCTCTCCTGCCTTCTTTTCTCTCTTCCACTGCCTTCCTCCAGCAGCAGTGCACCTTCTAGGAACATGGGCTCCTTAAAGAAAGTTATTCTTTAACAAGGAAAAATTTTGAAATATCTGCTCTTCAGTGAGAATCTCCTAATGACTATTCACTGAACAGGAGCAAACAGCCCATGGTTCGAAGTGATCACTCGACATTCATTCATTCAACAAACATTCGTGGAGTGCCTATGATATGCCAGGCACCGTTCTGGGTCCCGGGGCACATACAACAGGAAGAGGCCCACAAGATCATTGATCCTGGGAGCTTACCTTCTATTTCAGGAGTCAGACAAACATATCTGACTTAGTGTTATGTGGTAAATGCTATAGAAAAGAAAAGAAGTGGGTTAAGGGGCTAGGAAATTTTACATAGAATGGGAGGTGACATTTGTGCAGAGATGTGAATGAAGCAAGAGTGTGAGCCACCCAAGGAGCAGCAGCAGTAATGGCCCTGTGGTTAGAGCTTGTCTGATGGGCTCAGGGAGGAAGGAGGCTCCGAGGAGGATGAGTGAGTAGAGGAGTGGGACAGATGTGAGTAGAGAGCCAAGGCCCTGATGGTGTTGGGCAGTGCCTTCTTTGCTTCTCCACCACCACGTCATTGTCCCATTGCTACTTCCCACAAAAACCACAAACCGTGGACCTCGGAGGGCCCACTGCCCTTTTGTGCTCCCAACACTCCTGCTACTTAGGTCTGATCCAGCTATGTTGGGGCTTAACCAGTGGTCATTCATTGCTGAGTGCTGGAAAAGTGAAGAGATCTGGAAGGCAGATGGTGCTGCTGTGTTCACTCACTGCTGTTTTTTTAAATGTTGAAGTGTAAGCAGCTTGACCAGGCTTCTGTGCTTAATTTTAGTACTGCCTAGGGTAGCCACTAGCTAATATAGAACCTTAGTGCAAACTGGAAAAAAGGCACCTCCTCAGGGAGACGTAGCCCTGTGGGCGCCCAGCTTTGGTGAACAGATGGGTACCTGATGAGGATTAGAAAACGCAGCCTTTCCTCCTCCAGGTAGACATAGCCCCACACCAGACTGCACCATGGAATTAAATCACCTTTTACCCTTCAATGAGTGCTCTGGGCAATGACTGTCCTGTAATACCAAGTGATGGGGCCCTCTCCCACTAGACCTTTACTGGACCTCCTATTTTGGGAGTGAGTGGTCTATAGCTAAGAGGAGCCATCCATCCTCTGTGGCACAGGGTGTCAGGACCAGAGGACAGACCGAGCACCACTAGCACTGTAGCCCCTTCCTCCCCATCTCCGCCTTTTAATGTTCATTCCCCGCCACCAAATTACACAGTAATACAACCTATAATTTCCCCAGGTAATCTCAACATACAACTCTTCTCCACCAGGCCCTGGCTTACAATTACAGGGCAGAGATACTCATCCCTAGTTACACATTAAAATCAGTTTTGGAGTGAAGAAAAGAATACCAATCTTCAGGCCCTACTCAAGACCAAGGATATGAGAATTTCTCGGATGAAGTCCAGGCAGTGATATTTTTTAAAGCTTTCCAGGTGATTCTAATGTGCAGCCAAAGTTGAGAAAGCTGTTCTAGGGTTAGCCTCTCTTGGTCCCCACACTTAGTGAAACATAACTTACATCTAATTCCTTGTTACCATGGCTATGACACATTTTTCTCAGAAGGAAAACAAGTATTCTAGTCCAGTGATAGGGAAATGGGGCCACACCTCTACAAACATACCATATGGTTTTCCCCCGGTGGGTAAACATTCAATGGAGACATCCTCTTCTGAAGAGGTACCAAGGGAGGTCTTTCTCTGATATATGGCTCTTTGTGGATTTTTCTTTGTAGTATCAGGGACAGAAAAATGGCCAACAAGATCAAGCCCAGCATCGCCATTAACACTATGAACCACAGCTCGCTGTAGAACTCTGTGCTTTTGCTCCGCGATCCCTTCTTTTTCCCAGGAGTTGTTAGGACCAAGCCTGCAAAACCCAGAGAAAGAAAGGGGAAATGTTATTTCAGAAAGCATTTTTGTCATCTCTGGCCCTGCTATTTGATAGTAAATTAGAGAGGAGTTGAAAGCAGAAAGCAGTTTGTCTCTTACTGCTTGTTTGCACTTGTGTGCAGCCTGGGGTAATGGTTCAGCAGGTTGCTGGGTTATAACGAGATGCTTACAGCCCTTGAGAGGCCTTGCTGACACTTCTGGCGCTGCTGCTCAGGTTGGAAATCACCACTGTCTTGACAAATCCCTGGGAAAGATGGGAGTGTGGGGAGCAATTTTTAAAAGAGGTTACCAAAGTAACCTTGAGGGTCACCTGTTTCATAGCTGTGTGTCTTGGGAGCAAAGTCCTTGCTTGGATTCTCATGAGGGACTGGGACCCTTACTATTATTGCTGCAGAGTCACAAACAAAATCACTCCTTGGAGATCTGAGGTGTACTTGCTTCATGCAACAGTCCAATTCCTGATACTTCGTGCAAACTGGATTTTGAAGCATCAGATTCCATTTTCCATTATGATATTAACAGCCTGTGTTTGCTACCATGTTGTCTTTACATGGCCTCTCTGTTAAAGAGCAAAGCTCAGCAAACCATCACCCAAATGCACTGGGAAAGCTTCCTATGGAAAGAAATCTTTTAGCACTGGAGCCACTTACCTTTGCTTGGCGTTCACACATTGAGAGTTCAGTTGGTGTGAGTCTCTGCACATGAAGTTAGTATTAATAAAAGTAGCTCACATTTAACAAGAATGTACCTGGTGCCAGGTCCTATGCTTAGAGCTTTACAGGGATGAAGGGTGGGTAGGATTATTTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGTGTGATCTCCGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCACGACCTCATGATCCGCCTGCCTCGGCCTTCCAACATGCTGGGATTACAGGCATGAGCCGCCGCACCCAGCCAGGCAGGTTTATTAAGTCTTGTGGGGAAGATAGGAGAGAGGCTGACAAGAATCATGCAGGATAGGCGAAGGCAGTGAAATTATGTTGTCAGCTTGGCAAGCTAAGCAGGGGTGCGGCAGGGGTGGGGGTGGGGTGGCCAGAGATCTGCTCCCATCCAGCCACTGCTGGGGCCAGCACAGAAACCTGTGGATCTGATGCAGCGGCCACACAGGCTGGTGTGGAGATGTGAGCCAGAGAGCTGCTCATCTAAATCTAATACCCACAGCCAGGTCAGAAGAACAAGCAGACACAACTGCAAAGCCCACTCACTCACTGGACAAATCTCCCCCTTTTCAACACCTCTAGAACTCCATGGGCCTGCGTGGTACTTCACACTCACACTAGCAGGGAAAGACTTAAAGGAAAAAAGTTCAGAACTGGGGTGAAACTATTAAAGGCAGGAACAGATGGTGACTAAAACTAAACTTTGAACTCCGTAAGAGGAGGGATATTACTTTGCCAACCCTAACTCTGCTGCCGATCAGCTCTGTGATTAAATGTTGGACTCTGACCTTTGCTTCTCATCTCTAAAATAAAGGGTTGAGTCAACACTCCAATCAAGCTCCAGCAGGTCGAAATTCCCCTAATTAGGAACCAATGTGTGTTGTTTGATTAAAAACAAACCAGCCTAGGTTGCACACTAAAAGAGTTGTTTCCTCTGTGTGTGGCACAGAGAGAAAACAACTTGTTGGCTGTAACTCCAGAAACTGATCTGATGGGCCCAGTGGGCCCCTTGCTCCACAGCACGCAGGGGAAGGGAGGGCAGCCTGCCCGAGGGAAGCCT
|
TACACTTTCCTGTAACCGCACCTCACATTATACAGTAGATGTGCCTAGCAGTGCTTGGGAACCTCCCTTTCACCACTCCATGCACTCCATAGACCCTAGTTTCAGTTTAGCTCATCTCCCAGGCTAAACAGATCTCTCCTGCCTTCTTTTCTCTCTTCCACTGCCTTCCTCCAGCAGCAGTGCACCTTCTAGGAACATGGGCTCCTTAAAGAAAGTTATTCTTTAACAAGGAAAAATTTTGAAATATCTGCTCTTCAGTGAGAATCTCCTAATGACTATTCACTGAACAGGAGCAAACAGCCCATGGTTCGAAGTGATCACTCGACATTCATTCATTCAACAAACATTCGTGGAGTGCCTATGATATGCCAGGCACCGTTCTGGGTCCCGGGGCACATACAACAGGAAGAGGCCCACAAGATCATTGATCCTGGGAGCTTACCTTCTATTTCAGGAGTCAGACAAACATATCTGACTTAGTGTTATGTGGTAAATGCTATAGAAAAGAAAAGAAGTGGGTTAAGGGGCTAGGAAATTTTACATAGAATGGGAGGTGACATTTGTGCAGAGATGTGAATGAAGCAAGAGTGTGAGCCACCCAAGGAGCAGCAGCAGTAATGGCCCTGTGGTTAGAGCTTGTCTGATGGGCTCAGGGAGGAAGGAGGCTCCGAGGAGGATGAGTGAGTAGAGGAGTGGGACAGATGTGAGTAGAGAGCCAAGGCCCTGATGGTGTTGGGCAGTGCCTTCTTTGCTTCTCCACCACCACGTCATTGTCCCATTGCTACTTCCCACAAAAACCACAAACCGTGGACCTCGGAGGGCCCACTGCCCTTTTGTGCTCCCAACACTCCTGCTACTTAGGTCTGATCCAGCTATGTTGGGGCTTAACCAGTGGTCATTCATTGCTGAGTGCTGGAAAAGTGAAGAGATCTGGAAGGCAGATGGTGCTGCTGTGTTCACTCACTGCTGTTTTTTTAAATGTTGAAGTGTAAGCAGCTTGACCAGGCTTCTGTGCTTAATTTTAGTACTGCCTAGGGTAGCCACTAGCTAATATAGAACCTTAGTGCAAACTGGAAAAAAGGCACCTCCTCAGGGAGACGTAGCCCTGTGGGCGCCCAGCTTTGGTGAACAGATGGGTACCTGATGAGGATTAGAAAACGCAGCCTTTCCTCCTCCAGGTAGACATAGCCCCACACCAGACTGCACCATGGAATTAAATCACCTTTTACCCTTCAATGAGTGCTCTGGGCAATGACTGTCCTGTAATACCAAGTGATGGGGCCCTCTCCCACTAGACCTTTACTGGACCTCCTATTTTGGGAGTGAGTGGTCTATAGCTAAGAGGAGCCATCCATCCTCTGTGGCACAGGGTGTCAGGACCAGAGGACAGACCGAGCACCACTAGCACTGTAGCCCCTTCCTCCCCATCTCCGCCTTTTAATGTTCATTCCCCGCCACCAAATTACACAGTAATACAACCTATAATTTCCCCAGGTAATCTCAACATACAACTCTTCTCCACCAGGCCCTGGCTTACAATTACAGGGCAGAGATACTCATCCCTAGTTACACATTAAAATCAGTTTTGGAGTGAAGAAAAGAATACCAATCTTCAGGCCCTACTCAAGACCAAGGATATGAGAATTTCTCGGATGAAGTCCAGGCAGTGATATTTTTTAAAGCTTTCCAGGTGATTCTAATGTGCAGCCAAAGTTGAGAAAGCTGTTCTAGGGTTAGCCTCTCTTGGTCCCCACACTTAGTGAAACATAACTTACATCTAATTCCTTGTTACCATGGCTATGACACATTTTTCTCAGAAGGAAAACAAGTATTCTAGTCCAGTGATAGGGAAATGGGGCCACACCTCTACAAACATACCATATGGTTTTCCCCCGGTGGGTAAACATTCAATGGAGACATCCTCTTCTGAAGAGGTACCAAGGGAGGTCTTTCTCTGATATATGGCTCTTTGTGGATTTTTCTTTGTAGTATCAGGGACAGAAAAATGGCCAACAAGATCAAGCCCAGCATCGCCATTAACACTATGAACACAGCTCGCTGTAGAACTCTGTGCTTTTGCTCCGCGATCCCTTCTTTTTCCCAGGAGTTGTTAGGACCAAGCCTGCAAAACCCAGAGAAAGAAAGGGGAAATGTTATTTCAGAAAGCATTTTTGTCATCTCTGGCCCTGCTATTTGATAGTAAATTAGAGAGGAGTTGAAAGCAGAAAGCAGTTTGTCTCTTACTGCTTGTTTGCACTTGTGTGCAGCCTGGGGTAATGGTTCAGCAGGTTGCTGGGTTATAACGAGATGCTTACAGCCCTTGAGAGGCCTTGCTGACACTTCTGGCGCTGCTGCTCAGGTTGGAAATCACCACTGTCTTGACAAATCCCTGGGAAAGATGGGAGTGTGGGGAGCAATTTTTAAAAGAGGTTACCAAAGTAACCTTGAGGGTCACCTGTTTCATAGCTGTGTGTCTTGGGAGCAAAGTCCTTGCTTGGATTCTCATGAGGGACTGGGACCCTTACTATTATTGCTGCAGAGTCACAAACAAAATCACTCCTTGGAGATCTGAGGTGTACTTGCTTCATGCAACAGTCCAATTCCTGATACTTCGTGCAAACTGGATTTTGAAGCATCAGATTCCATTTTCCATTATGATATTAACAGCCTGTGTTTGCTACCATGTTGTCTTTACATGGCCTCTCTGTTAAAGAGCAAAGCTCAGCAAACCATCACCCAAATGCACTGGGAAAGCTTCCTATGGAAAGAAATCTTTTAGCACTGGAGCCACTTACCTTTGCTTGGCGTTCACACATTGAGAGTTCAGTTGGTGTGAGTCTCTGCACATGAAGTTAGTATTAATAAAAGTAGCTCACATTTAACAAGAATGTACCTGGTGCCAGGTCCTATGCTTAGAGCTTTACAGGGATGAAGGGTGGGTAGGATTATTTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGTGTGATCTCCGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCACGACCTCATGATCCGCCTGCCTCGGCCTTCCAACATGCTGGGATTACAGGCATGAGCCGCCGCACCCAGCCAGGCAGGTTTATTAAGTCTTGTGGGGAAGATAGGAGAGAGGCTGACAAGAATCATGCAGGATAGGCGAAGGCAGTGAAATTATGTTGTCAGCTTGGCAAGCTAAGCAGGGGTGCGGCAGGGGTGGGGGTGGGGTGGCCAGAGATCTGCTCCCATCCAGCCACTGCTGGGGCCAGCACAGAAACCTGTGGATCTGATGCAGCGGCCACACAGGCTGGTGTGGAGATGTGAGCCAGAGAGCTGCTCATCTAAATCTAATACCCACAGCCAGGTCAGAAGAACAAGCAGACACAACTGCAAAGCCCACTCACTCACTGGACAAATCTCCCCCTTTTCAACACCTCTAGAACTCCATGGGCCTGCGTGGTACTTCACACTCACACTAGCAGGGAAAGACTTAAAGGAAAAAAGTTCAGAACTGGGGTGAAACTATTAAAGGCAGGAACAGATGGTGACTAAAACTAAACTTTGAACTCCGTAAGAGGAGGGATATTACTTTGCCAACCCTAACTCTGCTGCCGATCAGCTCTGTGATTAAATGTTGGACTCTGACCTTTGCTTCTCATCTCTAAAATAAAGGGTTGAGTCAACACTCCAATCAAGCTCCAGCAGGTCGAAATTCCCCTAATTAGGAACCAATGTGTGTTGTTTGATTAAAAACAAACCAGCCTAGGTTGCACACTAAAAGAGTTGTTTCCTCTGTGTGTGGCACAGAGAGAAAACAACTTGTTGGCTGTAACTCCAGAAACTGATCTGATGGGCCCAGTGGGCCCCTTGCTCCACAGCACGCAGGGGAAGGGAGGGCAGCCTGCCCGAGGGAAGCCTN
|
pathogenic
| 21,789
|
Does the variant impacting USH2A (usherin) on chromosome 1, position 215634650, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A']
|
CTCACATTATACAGTAGATGTGCCTAGCAGTGCTTGGGAACCTCCCTTTCACCACTCCATGCACTCCATAGACCCTAGTTTCAGTTTAGCTCATCTCCCAGGCTAAACAGATCTCTCCTGCCTTCTTTTCTCTCTTCCACTGCCTTCCTCCAGCAGCAGTGCACCTTCTAGGAACATGGGCTCCTTAAAGAAAGTTATTCTTTAACAAGGAAAAATTTTGAAATATCTGCTCTTCAGTGAGAATCTCCTAATGACTATTCACTGAACAGGAGCAAACAGCCCATGGTTCGAAGTGATCACTCGACATTCATTCATTCAACAAACATTCGTGGAGTGCCTATGATATGCCAGGCACCGTTCTGGGTCCCGGGGCACATACAACAGGAAGAGGCCCACAAGATCATTGATCCTGGGAGCTTACCTTCTATTTCAGGAGTCAGACAAACATATCTGACTTAGTGTTATGTGGTAAATGCTATAGAAAAGAAAAGAAGTGGGTTAAGGGGCTAGGAAATTTTACATAGAATGGGAGGTGACATTTGTGCAGAGATGTGAATGAAGCAAGAGTGTGAGCCACCCAAGGAGCAGCAGCAGTAATGGCCCTGTGGTTAGAGCTTGTCTGATGGGCTCAGGGAGGAAGGAGGCTCCGAGGAGGATGAGTGAGTAGAGGAGTGGGACAGATGTGAGTAGAGAGCCAAGGCCCTGATGGTGTTGGGCAGTGCCTTCTTTGCTTCTCCACCACCACGTCATTGTCCCATTGCTACTTCCCACAAAAACCACAAACCGTGGACCTCGGAGGGCCCACTGCCCTTTTGTGCTCCCAACACTCCTGCTACTTAGGTCTGATCCAGCTATGTTGGGGCTTAACCAGTGGTCATTCATTGCTGAGTGCTGGAAAAGTGAAGAGATCTGGAAGGCAGATGGTGCTGCTGTGTTCACTCACTGCTGTTTTTTTAAATGTTGAAGTGTAAGCAGCTTGACCAGGCTTCTGTGCTTAATTTTAGTACTGCCTAGGGTAGCCACTAGCTAATATAGAACCTTAGTGCAAACTGGAAAAAAGGCACCTCCTCAGGGAGACGTAGCCCTGTGGGCGCCCAGCTTTGGTGAACAGATGGGTACCTGATGAGGATTAGAAAACGCAGCCTTTCCTCCTCCAGGTAGACATAGCCCCACACCAGACTGCACCATGGAATTAAATCACCTTTTACCCTTCAATGAGTGCTCTGGGCAATGACTGTCCTGTAATACCAAGTGATGGGGCCCTCTCCCACTAGACCTTTACTGGACCTCCTATTTTGGGAGTGAGTGGTCTATAGCTAAGAGGAGCCATCCATCCTCTGTGGCACAGGGTGTCAGGACCAGAGGACAGACCGAGCACCACTAGCACTGTAGCCCCTTCCTCCCCATCTCCGCCTTTTAATGTTCATTCCCCGCCACCAAATTACACAGTAATACAACCTATAATTTCCCCAGGTAATCTCAACATACAACTCTTCTCCACCAGGCCCTGGCTTACAATTACAGGGCAGAGATACTCATCCCTAGTTACACATTAAAATCAGTTTTGGAGTGAAGAAAAGAATACCAATCTTCAGGCCCTACTCAAGACCAAGGATATGAGAATTTCTCGGATGAAGTCCAGGCAGTGATATTTTTTAAAGCTTTCCAGGTGATTCTAATGTGCAGCCAAAGTTGAGAAAGCTGTTCTAGGGTTAGCCTCTCTTGGTCCCCACACTTAGTGAAACATAACTTACATCTAATTCCTTGTTACCATGGCTATGACACATTTTTCTCAGAAGGAAAACAAGTATTCTAGTCCAGTGATAGGGAAATGGGGCCACACCTCTACAAACATACCATATGGTTTTCCCCCGGTGGGTAAACATTCAATGGAGACATCCTCTTCTGAAGAGGTACCAAGGGAGGTCTTTCTCTGATATATGGCTCTTTGTGGATTTTTCTTTGTAGTATCAGGGACAGAAAAATGGCCAACAAGATCAAGCCCAGCATCGCCATTAACACTATGAACCACAGCTCGCTGTAGAACTCTGTGCTTTTGCTCCGCGATCCCTTCTTTTTCCCAGGAGTTGTTAGGACCAAGCCTGCAAAACCCAGAGAAAGAAAGGGGAAATGTTATTTCAGAAAGCATTTTTGTCATCTCTGGCCCTGCTATTTGATAGTAAATTAGAGAGGAGTTGAAAGCAGAAAGCAGTTTGTCTCTTACTGCTTGTTTGCACTTGTGTGCAGCCTGGGGTAATGGTTCAGCAGGTTGCTGGGTTATAACGAGATGCTTACAGCCCTTGAGAGGCCTTGCTGACACTTCTGGCGCTGCTGCTCAGGTTGGAAATCACCACTGTCTTGACAAATCCCTGGGAAAGATGGGAGTGTGGGGAGCAATTTTTAAAAGAGGTTACCAAAGTAACCTTGAGGGTCACCTGTTTCATAGCTGTGTGTCTTGGGAGCAAAGTCCTTGCTTGGATTCTCATGAGGGACTGGGACCCTTACTATTATTGCTGCAGAGTCACAAACAAAATCACTCCTTGGAGATCTGAGGTGTACTTGCTTCATGCAACAGTCCAATTCCTGATACTTCGTGCAAACTGGATTTTGAAGCATCAGATTCCATTTTCCATTATGATATTAACAGCCTGTGTTTGCTACCATGTTGTCTTTACATGGCCTCTCTGTTAAAGAGCAAAGCTCAGCAAACCATCACCCAAATGCACTGGGAAAGCTTCCTATGGAAAGAAATCTTTTAGCACTGGAGCCACTTACCTTTGCTTGGCGTTCACACATTGAGAGTTCAGTTGGTGTGAGTCTCTGCACATGAAGTTAGTATTAATAAAAGTAGCTCACATTTAACAAGAATGTACCTGGTGCCAGGTCCTATGCTTAGAGCTTTACAGGGATGAAGGGTGGGTAGGATTATTTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGTGTGATCTCCGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCACGACCTCATGATCCGCCTGCCTCGGCCTTCCAACATGCTGGGATTACAGGCATGAGCCGCCGCACCCAGCCAGGCAGGTTTATTAAGTCTTGTGGGGAAGATAGGAGAGAGGCTGACAAGAATCATGCAGGATAGGCGAAGGCAGTGAAATTATGTTGTCAGCTTGGCAAGCTAAGCAGGGGTGCGGCAGGGGTGGGGGTGGGGTGGCCAGAGATCTGCTCCCATCCAGCCACTGCTGGGGCCAGCACAGAAACCTGTGGATCTGATGCAGCGGCCACACAGGCTGGTGTGGAGATGTGAGCCAGAGAGCTGCTCATCTAAATCTAATACCCACAGCCAGGTCAGAAGAACAAGCAGACACAACTGCAAAGCCCACTCACTCACTGGACAAATCTCCCCCTTTTCAACACCTCTAGAACTCCATGGGCCTGCGTGGTACTTCACACTCACACTAGCAGGGAAAGACTTAAAGGAAAAAAGTTCAGAACTGGGGTGAAACTATTAAAGGCAGGAACAGATGGTGACTAAAACTAAACTTTGAACTCCGTAAGAGGAGGGATATTACTTTGCCAACCCTAACTCTGCTGCCGATCAGCTCTGTGATTAAATGTTGGACTCTGACCTTTGCTTCTCATCTCTAAAATAAAGGGTTGAGTCAACACTCCAATCAAGCTCCAGCAGGTCGAAATTCCCCTAATTAGGAACCAATGTGTGTTGTTTGATTAAAAACAAACCAGCCTAGGTTGCACACTAAAAGAGTTGTTTCCTCTGTGTGTGGCACAGAGAGAAAACAACTTGTTGGCTGTAACTCCAGAAACTGATCTGATGGGCCCAGTGGGCCCCTTGCTCCACAGCACGCAGGGGAAGGGAGGGCAGCCTGCCCGAGGGAAGCCTCAAAAGGGAAATAGCCCTTAG
|
CTCACATTATACAGTAGATGTGCCTAGCAGTGCTTGGGAACCTCCCTTTCACCACTCCATGCACTCCATAGACCCTAGTTTCAGTTTAGCTCATCTCCCAGGCTAAACAGATCTCTCCTGCCTTCTTTTCTCTCTTCCACTGCCTTCCTCCAGCAGCAGTGCACCTTCTAGGAACATGGGCTCCTTAAAGAAAGTTATTCTTTAACAAGGAAAAATTTTGAAATATCTGCTCTTCAGTGAGAATCTCCTAATGACTATTCACTGAACAGGAGCAAACAGCCCATGGTTCGAAGTGATCACTCGACATTCATTCATTCAACAAACATTCGTGGAGTGCCTATGATATGCCAGGCACCGTTCTGGGTCCCGGGGCACATACAACAGGAAGAGGCCCACAAGATCATTGATCCTGGGAGCTTACCTTCTATTTCAGGAGTCAGACAAACATATCTGACTTAGTGTTATGTGGTAAATGCTATAGAAAAGAAAAGAAGTGGGTTAAGGGGCTAGGAAATTTTACATAGAATGGGAGGTGACATTTGTGCAGAGATGTGAATGAAGCAAGAGTGTGAGCCACCCAAGGAGCAGCAGCAGTAATGGCCCTGTGGTTAGAGCTTGTCTGATGGGCTCAGGGAGGAAGGAGGCTCCGAGGAGGATGAGTGAGTAGAGGAGTGGGACAGATGTGAGTAGAGAGCCAAGGCCCTGATGGTGTTGGGCAGTGCCTTCTTTGCTTCTCCACCACCACGTCATTGTCCCATTGCTACTTCCCACAAAAACCACAAACCGTGGACCTCGGAGGGCCCACTGCCCTTTTGTGCTCCCAACACTCCTGCTACTTAGGTCTGATCCAGCTATGTTGGGGCTTAACCAGTGGTCATTCATTGCTGAGTGCTGGAAAAGTGAAGAGATCTGGAAGGCAGATGGTGCTGCTGTGTTCACTCACTGCTGTTTTTTTAAATGTTGAAGTGTAAGCAGCTTGACCAGGCTTCTGTGCTTAATTTTAGTACTGCCTAGGGTAGCCACTAGCTAATATAGAACCTTAGTGCAAACTGGAAAAAAGGCACCTCCTCAGGGAGACGTAGCCCTGTGGGCGCCCAGCTTTGGTGAACAGATGGGTACCTGATGAGGATTAGAAAACGCAGCCTTTCCTCCTCCAGGTAGACATAGCCCCACACCAGACTGCACCATGGAATTAAATCACCTTTTACCCTTCAATGAGTGCTCTGGGCAATGACTGTCCTGTAATACCAAGTGATGGGGCCCTCTCCCACTAGACCTTTACTGGACCTCCTATTTTGGGAGTGAGTGGTCTATAGCTAAGAGGAGCCATCCATCCTCTGTGGCACAGGGTGTCAGGACCAGAGGACAGACCGAGCACCACTAGCACTGTAGCCCCTTCCTCCCCATCTCCGCCTTTTAATGTTCATTCCCCGCCACCAAATTACACAGTAATACAACCTATAATTTCCCCAGGTAATCTCAACATACAACTCTTCTCCACCAGGCCCTGGCTTACAATTACAGGGCAGAGATACTCATCCCTAGTTACACATTAAAATCAGTTTTGGAGTGAAGAAAAGAATACCAATCTTCAGGCCCTACTCAAGACCAAGGATATGAGAATTTCTCGGATGAAGTCCAGGCAGTGATATTTTTTAAAGCTTTCCAGGTGATTCTAATGTGCAGCCAAAGTTGAGAAAGCTGTTCTAGGGTTAGCCTCTCTTGGTCCCCACACTTAGTGAAACATAACTTACATCTAATTCCTTGTTACCATGGCTATGACACATTTTTCTCAGAAGGAAAACAAGTATTCTAGTCCAGTGATAGGGAAATGGGGCCACACCTCTACAAACATACCATATGGTTTTCCCCCGGTGGGTAAACATTCAATGGAGACATCCTCTTCTGAAGAGGTACCAAGGGAGGTCTTTCTCTGATATATGGCTCTTTGTGGATTTTTCTTTGTAGTATCAGGGACAGAAAAATGGCCAACAAGATCAAGCCCAGCATCGCCATTAACACTATGAACCACAGCTCGCTGTAGAACTCTGCTTTTGCTCCGCGATCCCTTCTTTTTCCCAGGAGTTGTTAGGACCAAGCCTGCAAAACCCAGAGAAAGAAAGGGGAAATGTTATTTCAGAAAGCATTTTTGTCATCTCTGGCCCTGCTATTTGATAGTAAATTAGAGAGGAGTTGAAAGCAGAAAGCAGTTTGTCTCTTACTGCTTGTTTGCACTTGTGTGCAGCCTGGGGTAATGGTTCAGCAGGTTGCTGGGTTATAACGAGATGCTTACAGCCCTTGAGAGGCCTTGCTGACACTTCTGGCGCTGCTGCTCAGGTTGGAAATCACCACTGTCTTGACAAATCCCTGGGAAAGATGGGAGTGTGGGGAGCAATTTTTAAAAGAGGTTACCAAAGTAACCTTGAGGGTCACCTGTTTCATAGCTGTGTGTCTTGGGAGCAAAGTCCTTGCTTGGATTCTCATGAGGGACTGGGACCCTTACTATTATTGCTGCAGAGTCACAAACAAAATCACTCCTTGGAGATCTGAGGTGTACTTGCTTCATGCAACAGTCCAATTCCTGATACTTCGTGCAAACTGGATTTTGAAGCATCAGATTCCATTTTCCATTATGATATTAACAGCCTGTGTTTGCTACCATGTTGTCTTTACATGGCCTCTCTGTTAAAGAGCAAAGCTCAGCAAACCATCACCCAAATGCACTGGGAAAGCTTCCTATGGAAAGAAATCTTTTAGCACTGGAGCCACTTACCTTTGCTTGGCGTTCACACATTGAGAGTTCAGTTGGTGTGAGTCTCTGCACATGAAGTTAGTATTAATAAAAGTAGCTCACATTTAACAAGAATGTACCTGGTGCCAGGTCCTATGCTTAGAGCTTTACAGGGATGAAGGGTGGGTAGGATTATTTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGTGTGATCTCCGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCACGACCTCATGATCCGCCTGCCTCGGCCTTCCAACATGCTGGGATTACAGGCATGAGCCGCCGCACCCAGCCAGGCAGGTTTATTAAGTCTTGTGGGGAAGATAGGAGAGAGGCTGACAAGAATCATGCAGGATAGGCGAAGGCAGTGAAATTATGTTGTCAGCTTGGCAAGCTAAGCAGGGGTGCGGCAGGGGTGGGGGTGGGGTGGCCAGAGATCTGCTCCCATCCAGCCACTGCTGGGGCCAGCACAGAAACCTGTGGATCTGATGCAGCGGCCACACAGGCTGGTGTGGAGATGTGAGCCAGAGAGCTGCTCATCTAAATCTAATACCCACAGCCAGGTCAGAAGAACAAGCAGACACAACTGCAAAGCCCACTCACTCACTGGACAAATCTCCCCCTTTTCAACACCTCTAGAACTCCATGGGCCTGCGTGGTACTTCACACTCACACTAGCAGGGAAAGACTTAAAGGAAAAAAGTTCAGAACTGGGGTGAAACTATTAAAGGCAGGAACAGATGGTGACTAAAACTAAACTTTGAACTCCGTAAGAGGAGGGATATTACTTTGCCAACCCTAACTCTGCTGCCGATCAGCTCTGTGATTAAATGTTGGACTCTGACCTTTGCTTCTCATCTCTAAAATAAAGGGTTGAGTCAACACTCCAATCAAGCTCCAGCAGGTCGAAATTCCCCTAATTAGGAACCAATGTGTGTTGTTTGATTAAAAACAAACCAGCCTAGGTTGCACACTAAAAGAGTTGTTTCCTCTGTGTGTGGCACAGAGAGAAAACAACTTGTTGGCTGTAACTCCAGAAACTGATCTGATGGGCCCAGTGGGCCCCTTGCTCCACAGCACGCAGGGGAAGGGAGGGCAGCCTGCCCGAGGGAAGCCTCAAAAGGGAAATAGCCCTTAGNN
|
pathogenic
| 21,790
|
Variant chromosome 1, position 215634675, gene USH2A (usherin): benign or pathogenic? Disease(s)?
|
pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome', 'Usher_syndrome_type_2', 'Usher_syndrome_type_2A']
|
AGCAGTGCTTGGGAACCTCCCTTTCACCACTCCATGCACTCCATAGACCCTAGTTTCAGTTTAGCTCATCTCCCAGGCTAAACAGATCTCTCCTGCCTTCTTTTCTCTCTTCCACTGCCTTCCTCCAGCAGCAGTGCACCTTCTAGGAACATGGGCTCCTTAAAGAAAGTTATTCTTTAACAAGGAAAAATTTTGAAATATCTGCTCTTCAGTGAGAATCTCCTAATGACTATTCACTGAACAGGAGCAAACAGCCCATGGTTCGAAGTGATCACTCGACATTCATTCATTCAACAAACATTCGTGGAGTGCCTATGATATGCCAGGCACCGTTCTGGGTCCCGGGGCACATACAACAGGAAGAGGCCCACAAGATCATTGATCCTGGGAGCTTACCTTCTATTTCAGGAGTCAGACAAACATATCTGACTTAGTGTTATGTGGTAAATGCTATAGAAAAGAAAAGAAGTGGGTTAAGGGGCTAGGAAATTTTACATAGAATGGGAGGTGACATTTGTGCAGAGATGTGAATGAAGCAAGAGTGTGAGCCACCCAAGGAGCAGCAGCAGTAATGGCCCTGTGGTTAGAGCTTGTCTGATGGGCTCAGGGAGGAAGGAGGCTCCGAGGAGGATGAGTGAGTAGAGGAGTGGGACAGATGTGAGTAGAGAGCCAAGGCCCTGATGGTGTTGGGCAGTGCCTTCTTTGCTTCTCCACCACCACGTCATTGTCCCATTGCTACTTCCCACAAAAACCACAAACCGTGGACCTCGGAGGGCCCACTGCCCTTTTGTGCTCCCAACACTCCTGCTACTTAGGTCTGATCCAGCTATGTTGGGGCTTAACCAGTGGTCATTCATTGCTGAGTGCTGGAAAAGTGAAGAGATCTGGAAGGCAGATGGTGCTGCTGTGTTCACTCACTGCTGTTTTTTTAAATGTTGAAGTGTAAGCAGCTTGACCAGGCTTCTGTGCTTAATTTTAGTACTGCCTAGGGTAGCCACTAGCTAATATAGAACCTTAGTGCAAACTGGAAAAAAGGCACCTCCTCAGGGAGACGTAGCCCTGTGGGCGCCCAGCTTTGGTGAACAGATGGGTACCTGATGAGGATTAGAAAACGCAGCCTTTCCTCCTCCAGGTAGACATAGCCCCACACCAGACTGCACCATGGAATTAAATCACCTTTTACCCTTCAATGAGTGCTCTGGGCAATGACTGTCCTGTAATACCAAGTGATGGGGCCCTCTCCCACTAGACCTTTACTGGACCTCCTATTTTGGGAGTGAGTGGTCTATAGCTAAGAGGAGCCATCCATCCTCTGTGGCACAGGGTGTCAGGACCAGAGGACAGACCGAGCACCACTAGCACTGTAGCCCCTTCCTCCCCATCTCCGCCTTTTAATGTTCATTCCCCGCCACCAAATTACACAGTAATACAACCTATAATTTCCCCAGGTAATCTCAACATACAACTCTTCTCCACCAGGCCCTGGCTTACAATTACAGGGCAGAGATACTCATCCCTAGTTACACATTAAAATCAGTTTTGGAGTGAAGAAAAGAATACCAATCTTCAGGCCCTACTCAAGACCAAGGATATGAGAATTTCTCGGATGAAGTCCAGGCAGTGATATTTTTTAAAGCTTTCCAGGTGATTCTAATGTGCAGCCAAAGTTGAGAAAGCTGTTCTAGGGTTAGCCTCTCTTGGTCCCCACACTTAGTGAAACATAACTTACATCTAATTCCTTGTTACCATGGCTATGACACATTTTTCTCAGAAGGAAAACAAGTATTCTAGTCCAGTGATAGGGAAATGGGGCCACACCTCTACAAACATACCATATGGTTTTCCCCCGGTGGGTAAACATTCAATGGAGACATCCTCTTCTGAAGAGGTACCAAGGGAGGTCTTTCTCTGATATATGGCTCTTTGTGGATTTTTCTTTGTAGTATCAGGGACAGAAAAATGGCCAACAAGATCAAGCCCAGCATCGCCATTAACACTATGAACCACAGCTCGCTGTAGAACTCTGTGCTTTTGCTCCGCGATCCCTTCTTTTTCCCAGGAGTTGTTAGGACCAAGCCTGCAAAACCCAGAGAAAGAAAGGGGAAATGTTATTTCAGAAAGCATTTTTGTCATCTCTGGCCCTGCTATTTGATAGTAAATTAGAGAGGAGTTGAAAGCAGAAAGCAGTTTGTCTCTTACTGCTTGTTTGCACTTGTGTGCAGCCTGGGGTAATGGTTCAGCAGGTTGCTGGGTTATAACGAGATGCTTACAGCCCTTGAGAGGCCTTGCTGACACTTCTGGCGCTGCTGCTCAGGTTGGAAATCACCACTGTCTTGACAAATCCCTGGGAAAGATGGGAGTGTGGGGAGCAATTTTTAAAAGAGGTTACCAAAGTAACCTTGAGGGTCACCTGTTTCATAGCTGTGTGTCTTGGGAGCAAAGTCCTTGCTTGGATTCTCATGAGGGACTGGGACCCTTACTATTATTGCTGCAGAGTCACAAACAAAATCACTCCTTGGAGATCTGAGGTGTACTTGCTTCATGCAACAGTCCAATTCCTGATACTTCGTGCAAACTGGATTTTGAAGCATCAGATTCCATTTTCCATTATGATATTAACAGCCTGTGTTTGCTACCATGTTGTCTTTACATGGCCTCTCTGTTAAAGAGCAAAGCTCAGCAAACCATCACCCAAATGCACTGGGAAAGCTTCCTATGGAAAGAAATCTTTTAGCACTGGAGCCACTTACCTTTGCTTGGCGTTCACACATTGAGAGTTCAGTTGGTGTGAGTCTCTGCACATGAAGTTAGTATTAATAAAAGTAGCTCACATTTAACAAGAATGTACCTGGTGCCAGGTCCTATGCTTAGAGCTTTACAGGGATGAAGGGTGGGTAGGATTATTTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGTGTGATCTCCGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCACGACCTCATGATCCGCCTGCCTCGGCCTTCCAACATGCTGGGATTACAGGCATGAGCCGCCGCACCCAGCCAGGCAGGTTTATTAAGTCTTGTGGGGAAGATAGGAGAGAGGCTGACAAGAATCATGCAGGATAGGCGAAGGCAGTGAAATTATGTTGTCAGCTTGGCAAGCTAAGCAGGGGTGCGGCAGGGGTGGGGGTGGGGTGGCCAGAGATCTGCTCCCATCCAGCCACTGCTGGGGCCAGCACAGAAACCTGTGGATCTGATGCAGCGGCCACACAGGCTGGTGTGGAGATGTGAGCCAGAGAGCTGCTCATCTAAATCTAATACCCACAGCCAGGTCAGAAGAACAAGCAGACACAACTGCAAAGCCCACTCACTCACTGGACAAATCTCCCCCTTTTCAACACCTCTAGAACTCCATGGGCCTGCGTGGTACTTCACACTCACACTAGCAGGGAAAGACTTAAAGGAAAAAAGTTCAGAACTGGGGTGAAACTATTAAAGGCAGGAACAGATGGTGACTAAAACTAAACTTTGAACTCCGTAAGAGGAGGGATATTACTTTGCCAACCCTAACTCTGCTGCCGATCAGCTCTGTGATTAAATGTTGGACTCTGACCTTTGCTTCTCATCTCTAAAATAAAGGGTTGAGTCAACACTCCAATCAAGCTCCAGCAGGTCGAAATTCCCCTAATTAGGAACCAATGTGTGTTGTTTGATTAAAAACAAACCAGCCTAGGTTGCACACTAAAAGAGTTGTTTCCTCTGTGTGTGGCACAGAGAGAAAACAACTTGTTGGCTGTAACTCCAGAAACTGATCTGATGGGCCCAGTGGGCCCCTTGCTCCACAGCACGCAGGGGAAGGGAGGGCAGCCTGCCCGAGGGAAGCCTCAAAAGGGAAATAGCCCTTAGAACAGTCAGAGGAAAATGAGGTCTC
|
AGCAGTGCTTGGGAACCTCCCTTTCACCACTCCATGCACTCCATAGACCCTAGTTTCAGTTTAGCTCATCTCCCAGGCTAAACAGATCTCTCCTGCCTTCTTTTCTCTCTTCCACTGCCTTCCTCCAGCAGCAGTGCACCTTCTAGGAACATGGGCTCCTTAAAGAAAGTTATTCTTTAACAAGGAAAAATTTTGAAATATCTGCTCTTCAGTGAGAATCTCCTAATGACTATTCACTGAACAGGAGCAAACAGCCCATGGTTCGAAGTGATCACTCGACATTCATTCATTCAACAAACATTCGTGGAGTGCCTATGATATGCCAGGCACCGTTCTGGGTCCCGGGGCACATACAACAGGAAGAGGCCCACAAGATCATTGATCCTGGGAGCTTACCTTCTATTTCAGGAGTCAGACAAACATATCTGACTTAGTGTTATGTGGTAAATGCTATAGAAAAGAAAAGAAGTGGGTTAAGGGGCTAGGAAATTTTACATAGAATGGGAGGTGACATTTGTGCAGAGATGTGAATGAAGCAAGAGTGTGAGCCACCCAAGGAGCAGCAGCAGTAATGGCCCTGTGGTTAGAGCTTGTCTGATGGGCTCAGGGAGGAAGGAGGCTCCGAGGAGGATGAGTGAGTAGAGGAGTGGGACAGATGTGAGTAGAGAGCCAAGGCCCTGATGGTGTTGGGCAGTGCCTTCTTTGCTTCTCCACCACCACGTCATTGTCCCATTGCTACTTCCCACAAAAACCACAAACCGTGGACCTCGGAGGGCCCACTGCCCTTTTGTGCTCCCAACACTCCTGCTACTTAGGTCTGATCCAGCTATGTTGGGGCTTAACCAGTGGTCATTCATTGCTGAGTGCTGGAAAAGTGAAGAGATCTGGAAGGCAGATGGTGCTGCTGTGTTCACTCACTGCTGTTTTTTTAAATGTTGAAGTGTAAGCAGCTTGACCAGGCTTCTGTGCTTAATTTTAGTACTGCCTAGGGTAGCCACTAGCTAATATAGAACCTTAGTGCAAACTGGAAAAAAGGCACCTCCTCAGGGAGACGTAGCCCTGTGGGCGCCCAGCTTTGGTGAACAGATGGGTACCTGATGAGGATTAGAAAACGCAGCCTTTCCTCCTCCAGGTAGACATAGCCCCACACCAGACTGCACCATGGAATTAAATCACCTTTTACCCTTCAATGAGTGCTCTGGGCAATGACTGTCCTGTAATACCAAGTGATGGGGCCCTCTCCCACTAGACCTTTACTGGACCTCCTATTTTGGGAGTGAGTGGTCTATAGCTAAGAGGAGCCATCCATCCTCTGTGGCACAGGGTGTCAGGACCAGAGGACAGACCGAGCACCACTAGCACTGTAGCCCCTTCCTCCCCATCTCCGCCTTTTAATGTTCATTCCCCGCCACCAAATTACACAGTAATACAACCTATAATTTCCCCAGGTAATCTCAACATACAACTCTTCTCCACCAGGCCCTGGCTTACAATTACAGGGCAGAGATACTCATCCCTAGTTACACATTAAAATCAGTTTTGGAGTGAAGAAAAGAATACCAATCTTCAGGCCCTACTCAAGACCAAGGATATGAGAATTTCTCGGATGAAGTCCAGGCAGTGATATTTTTTAAAGCTTTCCAGGTGATTCTAATGTGCAGCCAAAGTTGAGAAAGCTGTTCTAGGGTTAGCCTCTCTTGGTCCCCACACTTAGTGAAACATAACTTACATCTAATTCCTTGTTACCATGGCTATGACACATTTTTCTCAGAAGGAAAACAAGTATTCTAGTCCAGTGATAGGGAAATGGGGCCACACCTCTACAAACATACCATATGGTTTTCCCCCGGTGGGTAAACATTCAATGGAGACATCCTCTTCTGAAGAGGTACCAAGGGAGGTCTTTCTCTGATATATGGCTCTTTGTGGATTTTTCTTTGTAGTATCAGGGACAGAAAAATGGCCAACAAGATCAAGCCCAGCATCGCCATTAACACTATGAACCACAGCTCGCTGTAGAACTCTGTGCTTTTGCTCCGCGATCCCTTGCAGGACCAAGCCTGCAAAACCCAGAGAAAGAAAGGGGAAATGTTATTTCAGAAAGCATTTTTGTCATCTCTGGCCCTGCTATTTGATAGTAAATTAGAGAGGAGTTGAAAGCAGAAAGCAGTTTGTCTCTTACTGCTTGTTTGCACTTGTGTGCAGCCTGGGGTAATGGTTCAGCAGGTTGCTGGGTTATAACGAGATGCTTACAGCCCTTGAGAGGCCTTGCTGACACTTCTGGCGCTGCTGCTCAGGTTGGAAATCACCACTGTCTTGACAAATCCCTGGGAAAGATGGGAGTGTGGGGAGCAATTTTTAAAAGAGGTTACCAAAGTAACCTTGAGGGTCACCTGTTTCATAGCTGTGTGTCTTGGGAGCAAAGTCCTTGCTTGGATTCTCATGAGGGACTGGGACCCTTACTATTATTGCTGCAGAGTCACAAACAAAATCACTCCTTGGAGATCTGAGGTGTACTTGCTTCATGCAACAGTCCAATTCCTGATACTTCGTGCAAACTGGATTTTGAAGCATCAGATTCCATTTTCCATTATGATATTAACAGCCTGTGTTTGCTACCATGTTGTCTTTACATGGCCTCTCTGTTAAAGAGCAAAGCTCAGCAAACCATCACCCAAATGCACTGGGAAAGCTTCCTATGGAAAGAAATCTTTTAGCACTGGAGCCACTTACCTTTGCTTGGCGTTCACACATTGAGAGTTCAGTTGGTGTGAGTCTCTGCACATGAAGTTAGTATTAATAAAAGTAGCTCACATTTAACAAGAATGTACCTGGTGCCAGGTCCTATGCTTAGAGCTTTACAGGGATGAAGGGTGGGTAGGATTATTTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGTGTGATCTCCGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCACGACCTCATGATCCGCCTGCCTCGGCCTTCCAACATGCTGGGATTACAGGCATGAGCCGCCGCACCCAGCCAGGCAGGTTTATTAAGTCTTGTGGGGAAGATAGGAGAGAGGCTGACAAGAATCATGCAGGATAGGCGAAGGCAGTGAAATTATGTTGTCAGCTTGGCAAGCTAAGCAGGGGTGCGGCAGGGGTGGGGGTGGGGTGGCCAGAGATCTGCTCCCATCCAGCCACTGCTGGGGCCAGCACAGAAACCTGTGGATCTGATGCAGCGGCCACACAGGCTGGTGTGGAGATGTGAGCCAGAGAGCTGCTCATCTAAATCTAATACCCACAGCCAGGTCAGAAGAACAAGCAGACACAACTGCAAAGCCCACTCACTCACTGGACAAATCTCCCCCTTTTCAACACCTCTAGAACTCCATGGGCCTGCGTGGTACTTCACACTCACACTAGCAGGGAAAGACTTAAAGGAAAAAAGTTCAGAACTGGGGTGAAACTATTAAAGGCAGGAACAGATGGTGACTAAAACTAAACTTTGAACTCCGTAAGAGGAGGGATATTACTTTGCCAACCCTAACTCTGCTGCCGATCAGCTCTGTGATTAAATGTTGGACTCTGACCTTTGCTTCTCATCTCTAAAATAAAGGGTTGAGTCAACACTCCAATCAAGCTCCAGCAGGTCGAAATTCCCCTAATTAGGAACCAATGTGTGTTGTTTGATTAAAAACAAACCAGCCTAGGTTGCACACTAAAAGAGTTGTTTCCTCTGTGTGTGGCACAGAGAGAAAACAACTTGTTGGCTGTAACTCCAGAAACTGATCTGATGGGCCCAGTGGGCCCCTTGCTCCACAGCACGCAGGGGAAGGGAGGGCAGCCTGCCCGAGGGAAGCCTCAAAAGGGAAATAGCCCTTAGAACAGTCAGAGGAAAATGAGGTCTCNNNNNNNNNNNNNNNNN
|
pathogenic
| 21,796
|
Variant at chromosome 1, position 215639163, gene USH2A (usherin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A']
|
AACCGAAACCACAGCCAGTGTCAGAGTAAATCCGTCTCTGTTGATGGCCTGCCTCCAGGAACAACACACTTCCCATTCACCAAGGAAACTAGACTGGCAGGGCTTAGAAGGCGAGCAACCTTGGTTTTCCGGCATCACTCAACACGTGGTTCTGAGCCCTGTGTCAGAATCACTGGACAGGACTTATTTAAAGAGCAGATTCTGAGCCTCCTTGAGTCTGAATCTCTGCCAGAGGCCCGGGAAACTACAATAAACAAGCACATGAGGTGATTCCTATGCGTACTTAACTTGGCAAACCATTGCAAAGAAAAAGTCCCAGGCCAGAAGTCAATAGAAAATCTGTGTTGGTGTTCTCATCCCAGTAACAAGCTAGCAGAGCATTCCTGGATAAATTCCTGTGTCCCTTATACCTCCACTTGTCCACTTGGGGAAATATTGGAGTTGCTAACAGAATACTAAATGAGATCTGTTCTATCCTACCACTGCTATTAAATGAAATAAGCCGTATGAGAAGAATTAAGTGTTGTAGGAAATTTTATATGACATCCAGACATGTAAAGTTTGGAAACATAGAATAATACGTTATTTTTACAAATTGAAACTATCCTTGACAATAATATACATGTTTCATCATGTATGAGACTCTGTCTCAAAAAAATTAAAAAAAATTTTTTTTTTAAATTGTGTTTCAGAAATTTTGGACATGTTTATTTTTCAAAAAAAAACTCTATACATGCAAATTTGATATATCATTAATTACTGGAATTTAAAATAGGATATCAATCCCGAATCTGTTTTAGTGGAAAAGATTTGGCATTTCTCTAATTTGCTTTTATAAAGTATCACAAATTTAGATTCAGAGACTATGAGTAAAACTCAGTTTAAAAGATGCTCCTTAAAAATTAAAATTGTACCCGTTGAGCTAAATTACCCGATATCAACAGTCAATCATAATCTTTTATGGAGAATAAAAGACACTTTCCAAATTTATCATTCTAGGCTTTGAATCTAGAATATTAACATTATGATCAACATGAATTGGCTGAATATTTTCTTTCTTCTTCTGATCTCTCCTCTAACTTCCTCTGTAAATCACCTTTATGCACGCGAAGTCATACAATTCTTTATTGACAGGGTTTGTGGTTAGGAGAAAAATTTAGTTTGAGCTCTCTGGTCTTTTCCATATTTACAATTCAATATTTGGCATTTTAAGAGTACATTCTGGCCAGGTGCAGTGGCTCACGCCTGTAATTCCAACACTTTGGGAGGCCAAGGTGGGTGGATCACCTGTGGTCAGGAGTTCGAGACCTCCCTGGCCAACAAAGTGAAACCCCATCTCTACTGTAAATACAAGAATCAGCCAGGCGTGGTGACATACACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAGCTAGAGGCTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGTGTATTGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAAAAACAACAACAAAAAAAAAACAAAAAAAAAAACTCTGACAACACTTGGCACAATTTCTTCTGTATAGTCTATGCTAATATATTAGGACTCCAAGTATGTATAAACAAACATATGTGTGTTTCTTGAGGAAGATGAATAGGTGCTACGCCAAGTATAATATGAGTTGTTTACCAAGTCCAGTAGAGGTATCATATTGGATCAACGGCGTCTTAACACTTCCTTCGTCAGTCGTGCAGATGACCTGGAAAAAGAAGGCTAGACAAAAGGAAGAACTGGTAAATGACTTGTTCATTCAACACCTACAAATAGGGCACATGCTTTTAAAAGAGCAATGCATCATAGCATGAAAAATAGGATTCCAAAGCAAGTTATGACGTTTTATATAATATTCAAAATTACTTCTAATTTTAAAATGTTTAAGAAAAAAAGCTATCATTAGTGTAATAATAGCCTATCCATAAGTAATAGAGCTAAGGAAAATTAGAGCTTATACAGCAAAGGAAAAGAACATCAGACGAGTAAAGGGTAATACACAAAGCGCATCTTGTTCTGCACACGGTTTAAATCCTTCCTTTAAAATTTACAGGTGTACTTTCCACTAAATGACCTAGAGTTTCTTACTGAACAGGAGAGCTCAAAAGGGATCCTAGAAATCACATGGTCTAAATTGCTCTTCCAATGGCCAGGAACCTGAGGGAAGTGACCCTTGCAAGGTCACACAGATGGTTATAGGCCTGGCCAGGTAGAACCTGTGTCTCCCAACCATCAGGCCACCTTCCTTTCCCAAAGAGCTGCCCAGGTGACCATGAACTGTAACAATGAACATGTGTAGCTGAATCTTTGTAAAAATGTTATTAAGTTTCTATTACTATACATGCAATGCTGGAGCTCACTGTTTACCTCTACCTTACAGCCAAAATAAAATACTCATTAATCAATTCATTATATAGTGAACATTGGTCCTGTGAGCATGCTGATCACTATAAAATACTTAGCACCTTGTAAAGCATTTTCTCATTTCAATTTAAAAACAAGGCAAGGAGAAAAGGGACATGTAAGTAAACAGGAAGAAGGAACTCCATTTTAGAGGGTCAAGATTGTTCTTTCAGGGGCTGATATCAAGGAAGGTTAAGGAAACCCCTTATTCAGGTCCTCATGAGTTGGAGATAGTTATTTCCTGATAGGGCTCTGTTTGGAGACTGGAGATACAGCAAGAAAATCTATGAAGTTGCTAGAAGTGTATTATTTTAGGGTAGTCATTGACTATGTATGGGTGCTATTTCTTTTGTGAACCCAACTGGCCCTTGGGTCTTATCCCTTCCTGGGGACCCTCCAGTCCTGTGGAGGCAGCGCTGTCCCCTTGAACTGCATTATAACTGCAGTGCTGTCAAGCTGCAAATGGGAAGGAAAGAAAACCTTATTTATCCTGAGCAGTAACTTTTTCACAAGAAGGGGGCACTTAAACCAAGACATTTTAATGGTGAGCATCTGCTGGTCAGCTTTCAGATTTAGCATCCCGTAAAGCTGGGGAACAGAGCGCCTTCCACACTGAGAAACAGGAGTCAGAAACTAACTTTTGTCCGCCGTTCTCGGTATGTAGAGGGTGGTGTCCAAGCCGCTGTACACGCGTCGCCCTCCGTCGGTTAACACGTACTCCTTCAGTTGGCCGTTCAGGAGGAAGGTGTCACTCCAGTTCACACACACCACAGACAAATTGCTGTCCACCGAAAATGGGGCTCGGTACTGAGGCACTGTGGGGAGAAAGTTGTATGTTCTAAAAAGGGTAACCTCTTTGAAGGAGTGCAGGTGTGCACTTTAAAAAAAAAAAATATGAGCAAAATCAAACCGAACCAATCCAAACAAAAAAAAAAAAAAAAAAGAAAACCAACATTGCTAGAATCCTTCACTTTTTCCTCAGTATTACGAAACAACCAGTATCAGGGGTGAAAAGAAAACCAATGGGAACATGTGTGAAATGCTTTCTCAGCAACTTTATGCCTGCTTTAAAAAAAATCGATAGAGAGTGGTGTTTTATAAATAAAACTATTAACATACAATGGATCTGCTCACCAGCATAACCCTGGAGCTCATATTTTGTTGCATTTTCCCTCTTTTTAACAGGTAAAGTATCCTTAATACTATTAAGTACAGTAGATAGCTATTTTTCATATCAAATCAATATTTATTGCCACAAAGCCCCAAGGACTAGATGAAGTTAATATATTTT
|
AACCGAAACCACAGCCAGTGTCAGAGTAAATCCGTCTCTGTTGATGGCCTGCCTCCAGGAACAACACACTTCCCATTCACCAAGGAAACTAGACTGGCAGGGCTTAGAAGGCGAGCAACCTTGGTTTTCCGGCATCACTCAACACGTGGTTCTGAGCCCTGTGTCAGAATCACTGGACAGGACTTATTTAAAGAGCAGATTCTGAGCCTCCTTGAGTCTGAATCTCTGCCAGAGGCCCGGGAAACTACAATAAACAAGCACATGAGGTGATTCCTATGCGTACTTAACTTGGCAAACCATTGCAAAGAAAAAGTCCCAGGCCAGAAGTCAATAGAAAATCTGTGTTGGTGTTCTCATCCCAGTAACAAGCTAGCAGAGCATTCCTGGATAAATTCCTGTGTCCCTTATACCTCCACTTGTCCACTTGGGGAAATATTGGAGTTGCTAACAGAATACTAAATGAGATCTGTTCTATCCTACCACTGCTATTAAATGAAATAAGCCGTATGAGAAGAATTAAGTGTTGTAGGAAATTTTATATGACATCCAGACATGTAAAGTTTGGAAACATAGAATAATACGTTATTTTTACAAATTGAAACTATCCTTGACAATAATATACATGTTTCATCATGTATGAGACTCTGTCTCAAAAAAATTAAAAAAAATTTTTTTTTTAAATTGTGTTTCAGAAATTTTGGACATGTTTATTTTTCAAAAAAAAACTCTATACATGCAAATTTGATATATCATTAATTACTGGAATTTAAAATAGGATATCAATCCCGAATCTGTTTTAGTGGAAAAGATTTGGCATTTCTCTAATTTGCTTTTATAAAGTATCACAAATTTAGATTCAGAGACTATGAGTAAAACTCAGTTTAAAAGATGCTCCTTAAAAATTAAAATTGTACCCGTTGAGCTAAATTACCCGATATCAACAGTCAATCATAATCTTTTATGGAGAATAAAAGACACTTTCCAAATTTATCATTCTAGGCTTTGAATCTAGAATATTAACATTATGATCAACATGAATTGGCTGAATATTTTCTTTCTTCTTCTGATCTCTCCTCTAACTTCCTCTGTAAATCACCTTTATGCACGCGAAGTCATACAATTCTTTATTGACAGGGTTTGTGGTTAGGAGAAAAATTTAGTTTGAGCTCTCTGGTCTTTTCCATATTTACAATTCAATATTTGGCATTTTAAGAGTACATTCTGGCCAGGTGCAGTGGCTCACGCCTGTAATTCCAACACTTTGGGAGGCCAAGGTGGGTGGATCACCTGTGGTCAGGAGTTCGAGACCTCCCTGGCCAACAAAGTGAAACCCCATCTCTACTGTAAATACAAGAATCAGCCAGGCGTGGTGACATACACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAGCTAGAGGCTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGTGTATTGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAAAAACAACAACAAAAAAAAAACAAAAAAAAAAACTCTGACAACACTTGGCACAATTTCTTCTGTATAGTCTATGCTAATATATTAGGACTCCAAGTATGTATAAACAAACATATGTGTGTTTCTTGAGGAAGATGAATAGGTGCTACGCCAAGTATAATATGAGTTGTTTACCAAGTCCAGATCATATTGGATCAACGGCGTCTTAACACTTCCTTCGTCAGTCGTGCAGATGACCTGGAAAAAGAAGGCTAGACAAAAGGAAGAACTGGTAAATGACTTGTTCATTCAACACCTACAAATAGGGCACATGCTTTTAAAAGAGCAATGCATCATAGCATGAAAAATAGGATTCCAAAGCAAGTTATGACGTTTTATATAATATTCAAAATTACTTCTAATTTTAAAATGTTTAAGAAAAAAAGCTATCATTAGTGTAATAATAGCCTATCCATAAGTAATAGAGCTAAGGAAAATTAGAGCTTATACAGCAAAGGAAAAGAACATCAGACGAGTAAAGGGTAATACACAAAGCGCATCTTGTTCTGCACACGGTTTAAATCCTTCCTTTAAAATTTACAGGTGTACTTTCCACTAAATGACCTAGAGTTTCTTACTGAACAGGAGAGCTCAAAAGGGATCCTAGAAATCACATGGTCTAAATTGCTCTTCCAATGGCCAGGAACCTGAGGGAAGTGACCCTTGCAAGGTCACACAGATGGTTATAGGCCTGGCCAGGTAGAACCTGTGTCTCCCAACCATCAGGCCACCTTCCTTTCCCAAAGAGCTGCCCAGGTGACCATGAACTGTAACAATGAACATGTGTAGCTGAATCTTTGTAAAAATGTTATTAAGTTTCTATTACTATACATGCAATGCTGGAGCTCACTGTTTACCTCTACCTTACAGCCAAAATAAAATACTCATTAATCAATTCATTATATAGTGAACATTGGTCCTGTGAGCATGCTGATCACTATAAAATACTTAGCACCTTGTAAAGCATTTTCTCATTTCAATTTAAAAACAAGGCAAGGAGAAAAGGGACATGTAAGTAAACAGGAAGAAGGAACTCCATTTTAGAGGGTCAAGATTGTTCTTTCAGGGGCTGATATCAAGGAAGGTTAAGGAAACCCCTTATTCAGGTCCTCATGAGTTGGAGATAGTTATTTCCTGATAGGGCTCTGTTTGGAGACTGGAGATACAGCAAGAAAATCTATGAAGTTGCTAGAAGTGTATTATTTTAGGGTAGTCATTGACTATGTATGGGTGCTATTTCTTTTGTGAACCCAACTGGCCCTTGGGTCTTATCCCTTCCTGGGGACCCTCCAGTCCTGTGGAGGCAGCGCTGTCCCCTTGAACTGCATTATAACTGCAGTGCTGTCAAGCTGCAAATGGGAAGGAAAGAAAACCTTATTTATCCTGAGCAGTAACTTTTTCACAAGAAGGGGGCACTTAAACCAAGACATTTTAATGGTGAGCATCTGCTGGTCAGCTTTCAGATTTAGCATCCCGTAAAGCTGGGGAACAGAGCGCCTTCCACACTGAGAAACAGGAGTCAGAAACTAACTTTTGTCCGCCGTTCTCGGTATGTAGAGGGTGGTGTCCAAGCCGCTGTACACGCGTCGCCCTCCGTCGGTTAACACGTACTCCTTCAGTTGGCCGTTCAGGAGGAAGGTGTCACTCCAGTTCACACACACCACAGACAAATTGCTGTCCACCGAAAATGGGGCTCGGTACTGAGGCACTGTGGGGAGAAAGTTGTATGTTCTAAAAAGGGTAACCTCTTTGAAGGAGTGCAGGTGTGCACTTTAAAAAAAAAAAATATGAGCAAAATCAAACCGAACCAATCCAAACAAAAAAAAAAAAAAAAAAGAAAACCAACATTGCTAGAATCCTTCACTTTTTCCTCAGTATTACGAAACAACCAGTATCAGGGGTGAAAAGAAAACCAATGGGAACATGTGTGAAATGCTTTCTCAGCAACTTTATGCCTGCTTTAAAAAAAATCGATAGAGAGTGGTGTTTTATAAATAAAACTATTAACATACAATGGATCTGCTCACCAGCATAACCCTGGAGCTCATATTTTGTTGCATTTTCCCTCTTTTTAACAGGTAAAGTATCCTTAATACTATTAAGTACAGTAGATAGCTATTTTTCATATCAAATCAATATTTATTGCCACAAAGCCCCAAGGACTAGATGAAGTTAATATATTTTNNNNNNN
|
pathogenic
| 21,800
|
Variant chromosome 1, position 215639228, gene USH2A (usherin): benign or pathogenic? Disease(s)?
|
pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A']
|
ACACTTCCCATTCACCAAGGAAACTAGACTGGCAGGGCTTAGAAGGCGAGCAACCTTGGTTTTCCGGCATCACTCAACACGTGGTTCTGAGCCCTGTGTCAGAATCACTGGACAGGACTTATTTAAAGAGCAGATTCTGAGCCTCCTTGAGTCTGAATCTCTGCCAGAGGCCCGGGAAACTACAATAAACAAGCACATGAGGTGATTCCTATGCGTACTTAACTTGGCAAACCATTGCAAAGAAAAAGTCCCAGGCCAGAAGTCAATAGAAAATCTGTGTTGGTGTTCTCATCCCAGTAACAAGCTAGCAGAGCATTCCTGGATAAATTCCTGTGTCCCTTATACCTCCACTTGTCCACTTGGGGAAATATTGGAGTTGCTAACAGAATACTAAATGAGATCTGTTCTATCCTACCACTGCTATTAAATGAAATAAGCCGTATGAGAAGAATTAAGTGTTGTAGGAAATTTTATATGACATCCAGACATGTAAAGTTTGGAAACATAGAATAATACGTTATTTTTACAAATTGAAACTATCCTTGACAATAATATACATGTTTCATCATGTATGAGACTCTGTCTCAAAAAAATTAAAAAAAATTTTTTTTTTAAATTGTGTTTCAGAAATTTTGGACATGTTTATTTTTCAAAAAAAAACTCTATACATGCAAATTTGATATATCATTAATTACTGGAATTTAAAATAGGATATCAATCCCGAATCTGTTTTAGTGGAAAAGATTTGGCATTTCTCTAATTTGCTTTTATAAAGTATCACAAATTTAGATTCAGAGACTATGAGTAAAACTCAGTTTAAAAGATGCTCCTTAAAAATTAAAATTGTACCCGTTGAGCTAAATTACCCGATATCAACAGTCAATCATAATCTTTTATGGAGAATAAAAGACACTTTCCAAATTTATCATTCTAGGCTTTGAATCTAGAATATTAACATTATGATCAACATGAATTGGCTGAATATTTTCTTTCTTCTTCTGATCTCTCCTCTAACTTCCTCTGTAAATCACCTTTATGCACGCGAAGTCATACAATTCTTTATTGACAGGGTTTGTGGTTAGGAGAAAAATTTAGTTTGAGCTCTCTGGTCTTTTCCATATTTACAATTCAATATTTGGCATTTTAAGAGTACATTCTGGCCAGGTGCAGTGGCTCACGCCTGTAATTCCAACACTTTGGGAGGCCAAGGTGGGTGGATCACCTGTGGTCAGGAGTTCGAGACCTCCCTGGCCAACAAAGTGAAACCCCATCTCTACTGTAAATACAAGAATCAGCCAGGCGTGGTGACATACACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAGCTAGAGGCTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGTGTATTGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAAAAACAACAACAAAAAAAAAACAAAAAAAAAAACTCTGACAACACTTGGCACAATTTCTTCTGTATAGTCTATGCTAATATATTAGGACTCCAAGTATGTATAAACAAACATATGTGTGTTTCTTGAGGAAGATGAATAGGTGCTACGCCAAGTATAATATGAGTTGTTTACCAAGTCCAGTAGAGGTATCATATTGGATCAACGGCGTCTTAACACTTCCTTCGTCAGTCGTGCAGATGACCTGGAAAAAGAAGGCTAGACAAAAGGAAGAACTGGTAAATGACTTGTTCATTCAACACCTACAAATAGGGCACATGCTTTTAAAAGAGCAATGCATCATAGCATGAAAAATAGGATTCCAAAGCAAGTTATGACGTTTTATATAATATTCAAAATTACTTCTAATTTTAAAATGTTTAAGAAAAAAAGCTATCATTAGTGTAATAATAGCCTATCCATAAGTAATAGAGCTAAGGAAAATTAGAGCTTATACAGCAAAGGAAAAGAACATCAGACGAGTAAAGGGTAATACACAAAGCGCATCTTGTTCTGCACACGGTTTAAATCCTTCCTTTAAAATTTACAGGTGTACTTTCCACTAAATGACCTAGAGTTTCTTACTGAACAGGAGAGCTCAAAAGGGATCCTAGAAATCACATGGTCTAAATTGCTCTTCCAATGGCCAGGAACCTGAGGGAAGTGACCCTTGCAAGGTCACACAGATGGTTATAGGCCTGGCCAGGTAGAACCTGTGTCTCCCAACCATCAGGCCACCTTCCTTTCCCAAAGAGCTGCCCAGGTGACCATGAACTGTAACAATGAACATGTGTAGCTGAATCTTTGTAAAAATGTTATTAAGTTTCTATTACTATACATGCAATGCTGGAGCTCACTGTTTACCTCTACCTTACAGCCAAAATAAAATACTCATTAATCAATTCATTATATAGTGAACATTGGTCCTGTGAGCATGCTGATCACTATAAAATACTTAGCACCTTGTAAAGCATTTTCTCATTTCAATTTAAAAACAAGGCAAGGAGAAAAGGGACATGTAAGTAAACAGGAAGAAGGAACTCCATTTTAGAGGGTCAAGATTGTTCTTTCAGGGGCTGATATCAAGGAAGGTTAAGGAAACCCCTTATTCAGGTCCTCATGAGTTGGAGATAGTTATTTCCTGATAGGGCTCTGTTTGGAGACTGGAGATACAGCAAGAAAATCTATGAAGTTGCTAGAAGTGTATTATTTTAGGGTAGTCATTGACTATGTATGGGTGCTATTTCTTTTGTGAACCCAACTGGCCCTTGGGTCTTATCCCTTCCTGGGGACCCTCCAGTCCTGTGGAGGCAGCGCTGTCCCCTTGAACTGCATTATAACTGCAGTGCTGTCAAGCTGCAAATGGGAAGGAAAGAAAACCTTATTTATCCTGAGCAGTAACTTTTTCACAAGAAGGGGGCACTTAAACCAAGACATTTTAATGGTGAGCATCTGCTGGTCAGCTTTCAGATTTAGCATCCCGTAAAGCTGGGGAACAGAGCGCCTTCCACACTGAGAAACAGGAGTCAGAAACTAACTTTTGTCCGCCGTTCTCGGTATGTAGAGGGTGGTGTCCAAGCCGCTGTACACGCGTCGCCCTCCGTCGGTTAACACGTACTCCTTCAGTTGGCCGTTCAGGAGGAAGGTGTCACTCCAGTTCACACACACCACAGACAAATTGCTGTCCACCGAAAATGGGGCTCGGTACTGAGGCACTGTGGGGAGAAAGTTGTATGTTCTAAAAAGGGTAACCTCTTTGAAGGAGTGCAGGTGTGCACTTTAAAAAAAAAAAATATGAGCAAAATCAAACCGAACCAATCCAAACAAAAAAAAAAAAAAAAAAGAAAACCAACATTGCTAGAATCCTTCACTTTTTCCTCAGTATTACGAAACAACCAGTATCAGGGGTGAAAAGAAAACCAATGGGAACATGTGTGAAATGCTTTCTCAGCAACTTTATGCCTGCTTTAAAAAAAATCGATAGAGAGTGGTGTTTTATAAATAAAACTATTAACATACAATGGATCTGCTCACCAGCATAACCCTGGAGCTCATATTTTGTTGCATTTTCCCTCTTTTTAACAGGTAAAGTATCCTTAATACTATTAAGTACAGTAGATAGCTATTTTTCATATCAAATCAATATTTATTGCCACAAAGCCCCAAGGACTAGATGAAGTTAATATATTTTTTTCTCCAAACCAAACTGCTTAGATGGTGAATTACGTCCTTTTGGCACCCATTTATTGTTAAAGC
|
ACACTTCCCATTCACCAAGGAAACTAGACTGGCAGGGCTTAGAAGGCGAGCAACCTTGGTTTTCCGGCATCACTCAACACGTGGTTCTGAGCCCTGTGTCAGAATCACTGGACAGGACTTATTTAAAGAGCAGATTCTGAGCCTCCTTGAGTCTGAATCTCTGCCAGAGGCCCGGGAAACTACAATAAACAAGCACATGAGGTGATTCCTATGCGTACTTAACTTGGCAAACCATTGCAAAGAAAAAGTCCCAGGCCAGAAGTCAATAGAAAATCTGTGTTGGTGTTCTCATCCCAGTAACAAGCTAGCAGAGCATTCCTGGATAAATTCCTGTGTCCCTTATACCTCCACTTGTCCACTTGGGGAAATATTGGAGTTGCTAACAGAATACTAAATGAGATCTGTTCTATCCTACCACTGCTATTAAATGAAATAAGCCGTATGAGAAGAATTAAGTGTTGTAGGAAATTTTATATGACATCCAGACATGTAAAGTTTGGAAACATAGAATAATACGTTATTTTTACAAATTGAAACTATCCTTGACAATAATATACATGTTTCATCATGTATGAGACTCTGTCTCAAAAAAATTAAAAAAAATTTTTTTTTTAAATTGTGTTTCAGAAATTTTGGACATGTTTATTTTTCAAAAAAAAACTCTATACATGCAAATTTGATATATCATTAATTACTGGAATTTAAAATAGGATATCAATCCCGAATCTGTTTTAGTGGAAAAGATTTGGCATTTCTCTAATTTGCTTTTATAAAGTATCACAAATTTAGATTCAGAGACTATGAGTAAAACTCAGTTTAAAAGATGCTCCTTAAAAATTAAAATTGTACCCGTTGAGCTAAATTACCCGATATCAACAGTCAATCATAATCTTTTATGGAGAATAAAAGACACTTTCCAAATTTATCATTCTAGGCTTTGAATCTAGAATATTAACATTATGATCAACATGAATTGGCTGAATATTTTCTTTCTTCTTCTGATCTCTCCTCTAACTTCCTCTGTAAATCACCTTTATGCACGCGAAGTCATACAATTCTTTATTGACAGGGTTTGTGGTTAGGAGAAAAATTTAGTTTGAGCTCTCTGGTCTTTTCCATATTTACAATTCAATATTTGGCATTTTAAGAGTACATTCTGGCCAGGTGCAGTGGCTCACGCCTGTAATTCCAACACTTTGGGAGGCCAAGGTGGGTGGATCACCTGTGGTCAGGAGTTCGAGACCTCCCTGGCCAACAAAGTGAAACCCCATCTCTACTGTAAATACAAGAATCAGCCAGGCGTGGTGACATACACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAGCTAGAGGCTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGTGTATTGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAAAAACAACAACAAAAAAAAAACAAAAAAAAAAACTCTGACAACACTTGGCACAATTTCTTCTGTATAGTCTATGCTAATATATTAGGACTCCAAGTATGTATAAACAAACATATGTGTGTTTCTTGAGGAAGATGAATAGGTGCTACGCCAAGTATAATATGAGTTGTTTACCAAGTCCAGTAGAGGTATCATATTGGATCAACGGCGTCTTAACACTTCCTTCGTCAGTCGTGCAGATGACCTGGAAAGAAGGCTAGACAAAAGGAAGAACTGGTAAATGACTTGTTCATTCAACACCTACAAATAGGGCACATGCTTTTAAAAGAGCAATGCATCATAGCATGAAAAATAGGATTCCAAAGCAAGTTATGACGTTTTATATAATATTCAAAATTACTTCTAATTTTAAAATGTTTAAGAAAAAAAGCTATCATTAGTGTAATAATAGCCTATCCATAAGTAATAGAGCTAAGGAAAATTAGAGCTTATACAGCAAAGGAAAAGAACATCAGACGAGTAAAGGGTAATACACAAAGCGCATCTTGTTCTGCACACGGTTTAAATCCTTCCTTTAAAATTTACAGGTGTACTTTCCACTAAATGACCTAGAGTTTCTTACTGAACAGGAGAGCTCAAAAGGGATCCTAGAAATCACATGGTCTAAATTGCTCTTCCAATGGCCAGGAACCTGAGGGAAGTGACCCTTGCAAGGTCACACAGATGGTTATAGGCCTGGCCAGGTAGAACCTGTGTCTCCCAACCATCAGGCCACCTTCCTTTCCCAAAGAGCTGCCCAGGTGACCATGAACTGTAACAATGAACATGTGTAGCTGAATCTTTGTAAAAATGTTATTAAGTTTCTATTACTATACATGCAATGCTGGAGCTCACTGTTTACCTCTACCTTACAGCCAAAATAAAATACTCATTAATCAATTCATTATATAGTGAACATTGGTCCTGTGAGCATGCTGATCACTATAAAATACTTAGCACCTTGTAAAGCATTTTCTCATTTCAATTTAAAAACAAGGCAAGGAGAAAAGGGACATGTAAGTAAACAGGAAGAAGGAACTCCATTTTAGAGGGTCAAGATTGTTCTTTCAGGGGCTGATATCAAGGAAGGTTAAGGAAACCCCTTATTCAGGTCCTCATGAGTTGGAGATAGTTATTTCCTGATAGGGCTCTGTTTGGAGACTGGAGATACAGCAAGAAAATCTATGAAGTTGCTAGAAGTGTATTATTTTAGGGTAGTCATTGACTATGTATGGGTGCTATTTCTTTTGTGAACCCAACTGGCCCTTGGGTCTTATCCCTTCCTGGGGACCCTCCAGTCCTGTGGAGGCAGCGCTGTCCCCTTGAACTGCATTATAACTGCAGTGCTGTCAAGCTGCAAATGGGAAGGAAAGAAAACCTTATTTATCCTGAGCAGTAACTTTTTCACAAGAAGGGGGCACTTAAACCAAGACATTTTAATGGTGAGCATCTGCTGGTCAGCTTTCAGATTTAGCATCCCGTAAAGCTGGGGAACAGAGCGCCTTCCACACTGAGAAACAGGAGTCAGAAACTAACTTTTGTCCGCCGTTCTCGGTATGTAGAGGGTGGTGTCCAAGCCGCTGTACACGCGTCGCCCTCCGTCGGTTAACACGTACTCCTTCAGTTGGCCGTTCAGGAGGAAGGTGTCACTCCAGTTCACACACACCACAGACAAATTGCTGTCCACCGAAAATGGGGCTCGGTACTGAGGCACTGTGGGGAGAAAGTTGTATGTTCTAAAAAGGGTAACCTCTTTGAAGGAGTGCAGGTGTGCACTTTAAAAAAAAAAAATATGAGCAAAATCAAACCGAACCAATCCAAACAAAAAAAAAAAAAAAAAAGAAAACCAACATTGCTAGAATCCTTCACTTTTTCCTCAGTATTACGAAACAACCAGTATCAGGGGTGAAAAGAAAACCAATGGGAACATGTGTGAAATGCTTTCTCAGCAACTTTATGCCTGCTTTAAAAAAAATCGATAGAGAGTGGTGTTTTATAAATAAAACTATTAACATACAATGGATCTGCTCACCAGCATAACCCTGGAGCTCATATTTTGTTGCATTTTCCCTCTTTTTAACAGGTAAAGTATCCTTAATACTATTAAGTACAGTAGATAGCTATTTTTCATATCAAATCAATATTTATTGCCACAAAGCCCCAAGGACTAGATGAAGTTAATATATTTTTTTCTCCAAACCAAACTGCTTAGATGGTGAATTACGTCCTTTTGGCACCCATTTATTGTTAAAGCNN
|
pathogenic
| 21,802
|
Evaluate this variant at chromosome 1, position 215639236, gene USH2A (usherin): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Retinitis_pigmentosa_39']
|
CATTCACCAAGGAAACTAGACTGGCAGGGCTTAGAAGGCGAGCAACCTTGGTTTTCCGGCATCACTCAACACGTGGTTCTGAGCCCTGTGTCAGAATCACTGGACAGGACTTATTTAAAGAGCAGATTCTGAGCCTCCTTGAGTCTGAATCTCTGCCAGAGGCCCGGGAAACTACAATAAACAAGCACATGAGGTGATTCCTATGCGTACTTAACTTGGCAAACCATTGCAAAGAAAAAGTCCCAGGCCAGAAGTCAATAGAAAATCTGTGTTGGTGTTCTCATCCCAGTAACAAGCTAGCAGAGCATTCCTGGATAAATTCCTGTGTCCCTTATACCTCCACTTGTCCACTTGGGGAAATATTGGAGTTGCTAACAGAATACTAAATGAGATCTGTTCTATCCTACCACTGCTATTAAATGAAATAAGCCGTATGAGAAGAATTAAGTGTTGTAGGAAATTTTATATGACATCCAGACATGTAAAGTTTGGAAACATAGAATAATACGTTATTTTTACAAATTGAAACTATCCTTGACAATAATATACATGTTTCATCATGTATGAGACTCTGTCTCAAAAAAATTAAAAAAAATTTTTTTTTTAAATTGTGTTTCAGAAATTTTGGACATGTTTATTTTTCAAAAAAAAACTCTATACATGCAAATTTGATATATCATTAATTACTGGAATTTAAAATAGGATATCAATCCCGAATCTGTTTTAGTGGAAAAGATTTGGCATTTCTCTAATTTGCTTTTATAAAGTATCACAAATTTAGATTCAGAGACTATGAGTAAAACTCAGTTTAAAAGATGCTCCTTAAAAATTAAAATTGTACCCGTTGAGCTAAATTACCCGATATCAACAGTCAATCATAATCTTTTATGGAGAATAAAAGACACTTTCCAAATTTATCATTCTAGGCTTTGAATCTAGAATATTAACATTATGATCAACATGAATTGGCTGAATATTTTCTTTCTTCTTCTGATCTCTCCTCTAACTTCCTCTGTAAATCACCTTTATGCACGCGAAGTCATACAATTCTTTATTGACAGGGTTTGTGGTTAGGAGAAAAATTTAGTTTGAGCTCTCTGGTCTTTTCCATATTTACAATTCAATATTTGGCATTTTAAGAGTACATTCTGGCCAGGTGCAGTGGCTCACGCCTGTAATTCCAACACTTTGGGAGGCCAAGGTGGGTGGATCACCTGTGGTCAGGAGTTCGAGACCTCCCTGGCCAACAAAGTGAAACCCCATCTCTACTGTAAATACAAGAATCAGCCAGGCGTGGTGACATACACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAGCTAGAGGCTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGTGTATTGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAAAAACAACAACAAAAAAAAAACAAAAAAAAAAACTCTGACAACACTTGGCACAATTTCTTCTGTATAGTCTATGCTAATATATTAGGACTCCAAGTATGTATAAACAAACATATGTGTGTTTCTTGAGGAAGATGAATAGGTGCTACGCCAAGTATAATATGAGTTGTTTACCAAGTCCAGTAGAGGTATCATATTGGATCAACGGCGTCTTAACACTTCCTTCGTCAGTCGTGCAGATGACCTGGAAAAAGAAGGCTAGACAAAAGGAAGAACTGGTAAATGACTTGTTCATTCAACACCTACAAATAGGGCACATGCTTTTAAAAGAGCAATGCATCATAGCATGAAAAATAGGATTCCAAAGCAAGTTATGACGTTTTATATAATATTCAAAATTACTTCTAATTTTAAAATGTTTAAGAAAAAAAGCTATCATTAGTGTAATAATAGCCTATCCATAAGTAATAGAGCTAAGGAAAATTAGAGCTTATACAGCAAAGGAAAAGAACATCAGACGAGTAAAGGGTAATACACAAAGCGCATCTTGTTCTGCACACGGTTTAAATCCTTCCTTTAAAATTTACAGGTGTACTTTCCACTAAATGACCTAGAGTTTCTTACTGAACAGGAGAGCTCAAAAGGGATCCTAGAAATCACATGGTCTAAATTGCTCTTCCAATGGCCAGGAACCTGAGGGAAGTGACCCTTGCAAGGTCACACAGATGGTTATAGGCCTGGCCAGGTAGAACCTGTGTCTCCCAACCATCAGGCCACCTTCCTTTCCCAAAGAGCTGCCCAGGTGACCATGAACTGTAACAATGAACATGTGTAGCTGAATCTTTGTAAAAATGTTATTAAGTTTCTATTACTATACATGCAATGCTGGAGCTCACTGTTTACCTCTACCTTACAGCCAAAATAAAATACTCATTAATCAATTCATTATATAGTGAACATTGGTCCTGTGAGCATGCTGATCACTATAAAATACTTAGCACCTTGTAAAGCATTTTCTCATTTCAATTTAAAAACAAGGCAAGGAGAAAAGGGACATGTAAGTAAACAGGAAGAAGGAACTCCATTTTAGAGGGTCAAGATTGTTCTTTCAGGGGCTGATATCAAGGAAGGTTAAGGAAACCCCTTATTCAGGTCCTCATGAGTTGGAGATAGTTATTTCCTGATAGGGCTCTGTTTGGAGACTGGAGATACAGCAAGAAAATCTATGAAGTTGCTAGAAGTGTATTATTTTAGGGTAGTCATTGACTATGTATGGGTGCTATTTCTTTTGTGAACCCAACTGGCCCTTGGGTCTTATCCCTTCCTGGGGACCCTCCAGTCCTGTGGAGGCAGCGCTGTCCCCTTGAACTGCATTATAACTGCAGTGCTGTCAAGCTGCAAATGGGAAGGAAAGAAAACCTTATTTATCCTGAGCAGTAACTTTTTCACAAGAAGGGGGCACTTAAACCAAGACATTTTAATGGTGAGCATCTGCTGGTCAGCTTTCAGATTTAGCATCCCGTAAAGCTGGGGAACAGAGCGCCTTCCACACTGAGAAACAGGAGTCAGAAACTAACTTTTGTCCGCCGTTCTCGGTATGTAGAGGGTGGTGTCCAAGCCGCTGTACACGCGTCGCCCTCCGTCGGTTAACACGTACTCCTTCAGTTGGCCGTTCAGGAGGAAGGTGTCACTCCAGTTCACACACACCACAGACAAATTGCTGTCCACCGAAAATGGGGCTCGGTACTGAGGCACTGTGGGGAGAAAGTTGTATGTTCTAAAAAGGGTAACCTCTTTGAAGGAGTGCAGGTGTGCACTTTAAAAAAAAAAAATATGAGCAAAATCAAACCGAACCAATCCAAACAAAAAAAAAAAAAAAAAAGAAAACCAACATTGCTAGAATCCTTCACTTTTTCCTCAGTATTACGAAACAACCAGTATCAGGGGTGAAAAGAAAACCAATGGGAACATGTGTGAAATGCTTTCTCAGCAACTTTATGCCTGCTTTAAAAAAAATCGATAGAGAGTGGTGTTTTATAAATAAAACTATTAACATACAATGGATCTGCTCACCAGCATAACCCTGGAGCTCATATTTTGTTGCATTTTCCCTCTTTTTAACAGGTAAAGTATCCTTAATACTATTAAGTACAGTAGATAGCTATTTTTCATATCAAATCAATATTTATTGCCACAAAGCCCCAAGGACTAGATGAAGTTAATATATTTTTTTCTCCAAACCAAACTGCTTAGATGGTGAATTACGTCCTTTTGGCACCCATTTATTGTTAAAGCTTTTTCTC
|
CATTCACCAAGGAAACTAGACTGGCAGGGCTTAGAAGGCGAGCAACCTTGGTTTTCCGGCATCACTCAACACGTGGTTCTGAGCCCTGTGTCAGAATCACTGGACAGGACTTATTTAAAGAGCAGATTCTGAGCCTCCTTGAGTCTGAATCTCTGCCAGAGGCCCGGGAAACTACAATAAACAAGCACATGAGGTGATTCCTATGCGTACTTAACTTGGCAAACCATTGCAAAGAAAAAGTCCCAGGCCAGAAGTCAATAGAAAATCTGTGTTGGTGTTCTCATCCCAGTAACAAGCTAGCAGAGCATTCCTGGATAAATTCCTGTGTCCCTTATACCTCCACTTGTCCACTTGGGGAAATATTGGAGTTGCTAACAGAATACTAAATGAGATCTGTTCTATCCTACCACTGCTATTAAATGAAATAAGCCGTATGAGAAGAATTAAGTGTTGTAGGAAATTTTATATGACATCCAGACATGTAAAGTTTGGAAACATAGAATAATACGTTATTTTTACAAATTGAAACTATCCTTGACAATAATATACATGTTTCATCATGTATGAGACTCTGTCTCAAAAAAATTAAAAAAAATTTTTTTTTTAAATTGTGTTTCAGAAATTTTGGACATGTTTATTTTTCAAAAAAAAACTCTATACATGCAAATTTGATATATCATTAATTACTGGAATTTAAAATAGGATATCAATCCCGAATCTGTTTTAGTGGAAAAGATTTGGCATTTCTCTAATTTGCTTTTATAAAGTATCACAAATTTAGATTCAGAGACTATGAGTAAAACTCAGTTTAAAAGATGCTCCTTAAAAATTAAAATTGTACCCGTTGAGCTAAATTACCCGATATCAACAGTCAATCATAATCTTTTATGGAGAATAAAAGACACTTTCCAAATTTATCATTCTAGGCTTTGAATCTAGAATATTAACATTATGATCAACATGAATTGGCTGAATATTTTCTTTCTTCTTCTGATCTCTCCTCTAACTTCCTCTGTAAATCACCTTTATGCACGCGAAGTCATACAATTCTTTATTGACAGGGTTTGTGGTTAGGAGAAAAATTTAGTTTGAGCTCTCTGGTCTTTTCCATATTTACAATTCAATATTTGGCATTTTAAGAGTACATTCTGGCCAGGTGCAGTGGCTCACGCCTGTAATTCCAACACTTTGGGAGGCCAAGGTGGGTGGATCACCTGTGGTCAGGAGTTCGAGACCTCCCTGGCCAACAAAGTGAAACCCCATCTCTACTGTAAATACAAGAATCAGCCAGGCGTGGTGACATACACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAGCTAGAGGCTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGTGTATTGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAAAAACAACAACAAAAAAAAAACAAAAAAAAAAACTCTGACAACACTTGGCACAATTTCTTCTGTATAGTCTATGCTAATATATTAGGACTCCAAGTATGTATAAACAAACATATGTGTGTTTCTTGAGGAAGATGAATAGGTGCTACGCCAAGTATAATATGAGTTGTTTACCAAGTCCAGTAGAGGTATCATATTGGATCAACGGCGTCTTAACACTTCCTTCGTCAGTCGTGCAGATGACCTGGAAAAAGAAGCTAGACAAAAGGAAGAACTGGTAAATGACTTGTTCATTCAACACCTACAAATAGGGCACATGCTTTTAAAAGAGCAATGCATCATAGCATGAAAAATAGGATTCCAAAGCAAGTTATGACGTTTTATATAATATTCAAAATTACTTCTAATTTTAAAATGTTTAAGAAAAAAAGCTATCATTAGTGTAATAATAGCCTATCCATAAGTAATAGAGCTAAGGAAAATTAGAGCTTATACAGCAAAGGAAAAGAACATCAGACGAGTAAAGGGTAATACACAAAGCGCATCTTGTTCTGCACACGGTTTAAATCCTTCCTTTAAAATTTACAGGTGTACTTTCCACTAAATGACCTAGAGTTTCTTACTGAACAGGAGAGCTCAAAAGGGATCCTAGAAATCACATGGTCTAAATTGCTCTTCCAATGGCCAGGAACCTGAGGGAAGTGACCCTTGCAAGGTCACACAGATGGTTATAGGCCTGGCCAGGTAGAACCTGTGTCTCCCAACCATCAGGCCACCTTCCTTTCCCAAAGAGCTGCCCAGGTGACCATGAACTGTAACAATGAACATGTGTAGCTGAATCTTTGTAAAAATGTTATTAAGTTTCTATTACTATACATGCAATGCTGGAGCTCACTGTTTACCTCTACCTTACAGCCAAAATAAAATACTCATTAATCAATTCATTATATAGTGAACATTGGTCCTGTGAGCATGCTGATCACTATAAAATACTTAGCACCTTGTAAAGCATTTTCTCATTTCAATTTAAAAACAAGGCAAGGAGAAAAGGGACATGTAAGTAAACAGGAAGAAGGAACTCCATTTTAGAGGGTCAAGATTGTTCTTTCAGGGGCTGATATCAAGGAAGGTTAAGGAAACCCCTTATTCAGGTCCTCATGAGTTGGAGATAGTTATTTCCTGATAGGGCTCTGTTTGGAGACTGGAGATACAGCAAGAAAATCTATGAAGTTGCTAGAAGTGTATTATTTTAGGGTAGTCATTGACTATGTATGGGTGCTATTTCTTTTGTGAACCCAACTGGCCCTTGGGTCTTATCCCTTCCTGGGGACCCTCCAGTCCTGTGGAGGCAGCGCTGTCCCCTTGAACTGCATTATAACTGCAGTGCTGTCAAGCTGCAAATGGGAAGGAAAGAAAACCTTATTTATCCTGAGCAGTAACTTTTTCACAAGAAGGGGGCACTTAAACCAAGACATTTTAATGGTGAGCATCTGCTGGTCAGCTTTCAGATTTAGCATCCCGTAAAGCTGGGGAACAGAGCGCCTTCCACACTGAGAAACAGGAGTCAGAAACTAACTTTTGTCCGCCGTTCTCGGTATGTAGAGGGTGGTGTCCAAGCCGCTGTACACGCGTCGCCCTCCGTCGGTTAACACGTACTCCTTCAGTTGGCCGTTCAGGAGGAAGGTGTCACTCCAGTTCACACACACCACAGACAAATTGCTGTCCACCGAAAATGGGGCTCGGTACTGAGGCACTGTGGGGAGAAAGTTGTATGTTCTAAAAAGGGTAACCTCTTTGAAGGAGTGCAGGTGTGCACTTTAAAAAAAAAAAATATGAGCAAAATCAAACCGAACCAATCCAAACAAAAAAAAAAAAAAAAAAGAAAACCAACATTGCTAGAATCCTTCACTTTTTCCTCAGTATTACGAAACAACCAGTATCAGGGGTGAAAAGAAAACCAATGGGAACATGTGTGAAATGCTTTCTCAGCAACTTTATGCCTGCTTTAAAAAAAATCGATAGAGAGTGGTGTTTTATAAATAAAACTATTAACATACAATGGATCTGCTCACCAGCATAACCCTGGAGCTCATATTTTGTTGCATTTTCCCTCTTTTTAACAGGTAAAGTATCCTTAATACTATTAAGTACAGTAGATAGCTATTTTTCATATCAAATCAATATTTATTGCCACAAAGCCCCAAGGACTAGATGAAGTTAATATATTTTTTTCTCCAAACCAAACTGCTTAGATGGTGAATTACGTCCTTTTGGCACCCATTTATTGTTAAAGCTTTTTCTCN
|
pathogenic
| 21,803
|
Evaluate this variant at chromosome 1, position 215640610, gene USH2A (usherin): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A']
|
TGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGTGTATTGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAAAAACAACAACAAAAAAAAAACAAAAAAAAAAACTCTGACAACACTTGGCACAATTTCTTCTGTATAGTCTATGCTAATATATTAGGACTCCAAGTATGTATAAACAAACATATGTGTGTTTCTTGAGGAAGATGAATAGGTGCTACGCCAAGTATAATATGAGTTGTTTACCAAGTCCAGTAGAGGTATCATATTGGATCAACGGCGTCTTAACACTTCCTTCGTCAGTCGTGCAGATGACCTGGAAAAAGAAGGCTAGACAAAAGGAAGAACTGGTAAATGACTTGTTCATTCAACACCTACAAATAGGGCACATGCTTTTAAAAGAGCAATGCATCATAGCATGAAAAATAGGATTCCAAAGCAAGTTATGACGTTTTATATAATATTCAAAATTACTTCTAATTTTAAAATGTTTAAGAAAAAAAGCTATCATTAGTGTAATAATAGCCTATCCATAAGTAATAGAGCTAAGGAAAATTAGAGCTTATACAGCAAAGGAAAAGAACATCAGACGAGTAAAGGGTAATACACAAAGCGCATCTTGTTCTGCACACGGTTTAAATCCTTCCTTTAAAATTTACAGGTGTACTTTCCACTAAATGACCTAGAGTTTCTTACTGAACAGGAGAGCTCAAAAGGGATCCTAGAAATCACATGGTCTAAATTGCTCTTCCAATGGCCAGGAACCTGAGGGAAGTGACCCTTGCAAGGTCACACAGATGGTTATAGGCCTGGCCAGGTAGAACCTGTGTCTCCCAACCATCAGGCCACCTTCCTTTCCCAAAGAGCTGCCCAGGTGACCATGAACTGTAACAATGAACATGTGTAGCTGAATCTTTGTAAAAATGTTATTAAGTTTCTATTACTATACATGCAATGCTGGAGCTCACTGTTTACCTCTACCTTACAGCCAAAATAAAATACTCATTAATCAATTCATTATATAGTGAACATTGGTCCTGTGAGCATGCTGATCACTATAAAATACTTAGCACCTTGTAAAGCATTTTCTCATTTCAATTTAAAAACAAGGCAAGGAGAAAAGGGACATGTAAGTAAACAGGAAGAAGGAACTCCATTTTAGAGGGTCAAGATTGTTCTTTCAGGGGCTGATATCAAGGAAGGTTAAGGAAACCCCTTATTCAGGTCCTCATGAGTTGGAGATAGTTATTTCCTGATAGGGCTCTGTTTGGAGACTGGAGATACAGCAAGAAAATCTATGAAGTTGCTAGAAGTGTATTATTTTAGGGTAGTCATTGACTATGTATGGGTGCTATTTCTTTTGTGAACCCAACTGGCCCTTGGGTCTTATCCCTTCCTGGGGACCCTCCAGTCCTGTGGAGGCAGCGCTGTCCCCTTGAACTGCATTATAACTGCAGTGCTGTCAAGCTGCAAATGGGAAGGAAAGAAAACCTTATTTATCCTGAGCAGTAACTTTTTCACAAGAAGGGGGCACTTAAACCAAGACATTTTAATGGTGAGCATCTGCTGGTCAGCTTTCAGATTTAGCATCCCGTAAAGCTGGGGAACAGAGCGCCTTCCACACTGAGAAACAGGAGTCAGAAACTAACTTTTGTCCGCCGTTCTCGGTATGTAGAGGGTGGTGTCCAAGCCGCTGTACACGCGTCGCCCTCCGTCGGTTAACACGTACTCCTTCAGTTGGCCGTTCAGGAGGAAGGTGTCACTCCAGTTCACACACACCACAGACAAATTGCTGTCCACCGAAAATGGGGCTCGGTACTGAGGCACTGTGGGGAGAAAGTTGTATGTTCTAAAAAGGGTAACCTCTTTGAAGGAGTGCAGGTGTGCACTTTAAAAAAAAAAAATATGAGCAAAATCAAACCGAACCAATCCAAACAAAAAAAAAAAAAAAAAAGAAAACCAACATTGCTAGAATCCTTCACTTTTTCCTCAGTATTACGAAACAACCAGTATCAGGGGTGAAAAGAAAACCAATGGGAACATGTGTGAAATGCTTTCTCAGCAACTTTATGCCTGCTTTAAAAAAAATCGATAGAGAGTGGTGTTTTATAAATAAAACTATTAACATACAATGGATCTGCTCACCAGCATAACCCTGGAGCTCATATTTTGTTGCATTTTCCCTCTTTTTAACAGGTAAAGTATCCTTAATACTATTAAGTACAGTAGATAGCTATTTTTCATATCAAATCAATATTTATTGCCACAAAGCCCCAAGGACTAGATGAAGTTAATATATTTTTTTCTCCAAACCAAACTGCTTAGATGGTGAATTACGTCCTTTTGGCACCCATTTATTGTTAAAGCTTTTTCTCAAACTGTTAGTTTGTTTTCTAAGATAGTTAAAAAGCCTTGCAAACAGTAATTCAAGTATAATAATTCATGGCCCTGACTAATCAATCAATAGCATAGTACATTAGTATATAATCAAGCTCAGGTGTCCTAAGTATTATATCACATATAGAAGCAACTTTGTGTGCATTTCACAGGCACATTCTCTTGATTTTTCAGTTCCTTACTAAAACAAAAAGAAAATCCTTAACTGGGGCTCACCTTTTAAATGAATAATTTTTGTGGAAACAAATGAAGGGATACCATGTCATCTTGTCAAGTCAGAAGAGATTTATTTCATGAGATCTTATTTTCTACAAAATAATCAATATATTTGTAAAAACATTAAGATTCACCTATATACCAAATTGGCTTTTAAGAAAAGAAAGGAGTGAGTAGTGAGACTAAATTGAATCTGATTCTTTTTCTTTAAAAATCAATCCATCTATTTCTGATGTTAGGAAATATAACAAAATAAGGAATAATTATGCTTTTGTAATTGTAATATTCAACCGTAAAGACACAGTTGATTGTTATCTTTCAAAATAAGATATTTTCATAAAGCCATAAGAAAAATTTTCTGCAAACACCAAAACAAGAGTTATCAAGCCCTCTTTAAATCTCAATGCTTTTCCAACATTGATTCTGCCTGATATCACAAGGAATACTCTATTGTTATTTGTCTATGACTTCTCTCCATCACCTTAGTTCAGTAGATTTTCACTTTTTCCCTATATCATAACAGCACAGATAAAGAAACAGCTTGTAACTAGCAAGAAAATAGAAAGATAGGAGTCTTATTTGTCCTGTAGGGTTTGGAGACCTTCCTGAGGAAAAAGAGTAAGCAATTAAAATAATCGAGAATAATGAGTTTACAAATCCTCCCCAAGGAAGACTGAAAAAGCTGTAAGTACCACTACGCTCCTAGCTTTTGACATACTTTATCTCATTTAATCCTCAAAATAATCCTGTAAAGATTGATTCCTAATTTTTGGGGTGAGAAAACTCAGGTTCAGAGAGGTCAAATATCTTGCTCTATGTCAGTGGCTGGTAGGAGACCAAGGAGCTGAACCTAGGCTTGCTTAAATAAGGCCCATGCTACTTTGTTATCATCGGTACACATTTGTTGAAAAGAACAGAATTTACCAATTCACCCTATGGGTGCTCTCCAGTGGTGTGCTGAAGTTGGCTCACCCCAACTGTTAAATATTCAGGAATTTTGTGAGTCATTGTTAAATCCGGCCACTACTAAAAATTAAATTATATAAACTTAAATAAATTATATTAAAACAAAGCTTATAAATACTCCAAATTCATAACTTTTTATTTGTTTCACTACATTTTACTACCGTCTGTGT
|
TGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGTGTATTGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAAAAACAACAACAAAAAAAAAACAAAAAAAAAAACTCTGACAACACTTGGCACAATTTCTTCTGTATAGTCTATGCTAATATATTAGGACTCCAAGTATGTATAAACAAACATATGTGTGTTTCTTGAGGAAGATGAATAGGTGCTACGCCAAGTATAATATGAGTTGTTTACCAAGTCCAGTAGAGGTATCATATTGGATCAACGGCGTCTTAACACTTCCTTCGTCAGTCGTGCAGATGACCTGGAAAAAGAAGGCTAGACAAAAGGAAGAACTGGTAAATGACTTGTTCATTCAACACCTACAAATAGGGCACATGCTTTTAAAAGAGCAATGCATCATAGCATGAAAAATAGGATTCCAAAGCAAGTTATGACGTTTTATATAATATTCAAAATTACTTCTAATTTTAAAATGTTTAAGAAAAAAAGCTATCATTAGTGTAATAATAGCCTATCCATAAGTAATAGAGCTAAGGAAAATTAGAGCTTATACAGCAAAGGAAAAGAACATCAGACGAGTAAAGGGTAATACACAAAGCGCATCTTGTTCTGCACACGGTTTAAATCCTTCCTTTAAAATTTACAGGTGTACTTTCCACTAAATGACCTAGAGTTTCTTACTGAACAGGAGAGCTCAAAAGGGATCCTAGAAATCACATGGTCTAAATTGCTCTTCCAATGGCCAGGAACCTGAGGGAAGTGACCCTTGCAAGGTCACACAGATGGTTATAGGCCTGGCCAGGTAGAACCTGTGTCTCCCAACCATCAGGCCACCTTCCTTTCCCAAAGAGCTGCCCAGGTGACCATGAACTGTAACAATGAACATGTGTAGCTGAATCTTTGTAAAAATGTTATTAAGTTTCTATTACTATACATGCAATGCTGGAGCTCACTGTTTACCTCTACCTTACAGCCAAAATAAAATACTCATTAATCAATTCATTATATAGTGAACATTGGTCCTGTGAGCATGCTGATCACTATAAAATACTTAGCACCTTGTAAAGCATTTTCTCATTTCAATTTAAAAACAAGGCAAGGAGAAAAGGGACATGTAAGTAAACAGGAAGAAGGAACTCCATTTTAGAGGGTCAAGATTGTTCTTTCAGGGGCTGATATCAAGGAAGGTTAAGGAAACCCCTTATTCAGGTCCTCATGAGTTGGAGATAGTTATTTCCTGATAGGGCTCTGTTTGGAGACTGGAGATACAGCAAGAAAATCTATGAAGTTGCTAGAAGTGTATTATTTTAGGGTAGTCATTGACTATGTATGGGTGCTATTTCTTTTGTGAACCCAACTGGCCCTTGGGTCTTATCCCTTCCTGGGGACCCTCCAGTCCTGTGGAGGCAGCGCTGTCCCCTTGAACTGCATTATAACTGCAGTGCTGTCAAGCTGCAAATGGGAAGGAAAGAAAACCTTATTTATCCTGAGCAGTAACTTTTTCACAAGAAGGGGGCACTTAAACCAAGACATTTTAATGGTGAGCATCTGCTGGTCAGCTTTCAGATTTAGCATCCCGTAAAGCTGGGGAACAGAGCGCCTTCCACACTGAGAAACAGGAGTCAGAAACTAACTTTTGTCCGCCGTTCTCGGTATGTAGAGGGTGGTGTCCAAGCCGCTGTACACGCGTACTCCTTCAGTTGGCCGTTCAGGAGGAAGGTGTCACTCCAGTTCACACACACCACAGACAAATTGCTGTCCACCGAAAATGGGGCTCGGTACTGAGGCACTGTGGGGAGAAAGTTGTATGTTCTAAAAAGGGTAACCTCTTTGAAGGAGTGCAGGTGTGCACTTTAAAAAAAAAAAATATGAGCAAAATCAAACCGAACCAATCCAAACAAAAAAAAAAAAAAAAAAGAAAACCAACATTGCTAGAATCCTTCACTTTTTCCTCAGTATTACGAAACAACCAGTATCAGGGGTGAAAAGAAAACCAATGGGAACATGTGTGAAATGCTTTCTCAGCAACTTTATGCCTGCTTTAAAAAAAATCGATAGAGAGTGGTGTTTTATAAATAAAACTATTAACATACAATGGATCTGCTCACCAGCATAACCCTGGAGCTCATATTTTGTTGCATTTTCCCTCTTTTTAACAGGTAAAGTATCCTTAATACTATTAAGTACAGTAGATAGCTATTTTTCATATCAAATCAATATTTATTGCCACAAAGCCCCAAGGACTAGATGAAGTTAATATATTTTTTTCTCCAAACCAAACTGCTTAGATGGTGAATTACGTCCTTTTGGCACCCATTTATTGTTAAAGCTTTTTCTCAAACTGTTAGTTTGTTTTCTAAGATAGTTAAAAAGCCTTGCAAACAGTAATTCAAGTATAATAATTCATGGCCCTGACTAATCAATCAATAGCATAGTACATTAGTATATAATCAAGCTCAGGTGTCCTAAGTATTATATCACATATAGAAGCAACTTTGTGTGCATTTCACAGGCACATTCTCTTGATTTTTCAGTTCCTTACTAAAACAAAAAGAAAATCCTTAACTGGGGCTCACCTTTTAAATGAATAATTTTTGTGGAAACAAATGAAGGGATACCATGTCATCTTGTCAAGTCAGAAGAGATTTATTTCATGAGATCTTATTTTCTACAAAATAATCAATATATTTGTAAAAACATTAAGATTCACCTATATACCAAATTGGCTTTTAAGAAAAGAAAGGAGTGAGTAGTGAGACTAAATTGAATCTGATTCTTTTTCTTTAAAAATCAATCCATCTATTTCTGATGTTAGGAAATATAACAAAATAAGGAATAATTATGCTTTTGTAATTGTAATATTCAACCGTAAAGACACAGTTGATTGTTATCTTTCAAAATAAGATATTTTCATAAAGCCATAAGAAAAATTTTCTGCAAACACCAAAACAAGAGTTATCAAGCCCTCTTTAAATCTCAATGCTTTTCCAACATTGATTCTGCCTGATATCACAAGGAATACTCTATTGTTATTTGTCTATGACTTCTCTCCATCACCTTAGTTCAGTAGATTTTCACTTTTTCCCTATATCATAACAGCACAGATAAAGAAACAGCTTGTAACTAGCAAGAAAATAGAAAGATAGGAGTCTTATTTGTCCTGTAGGGTTTGGAGACCTTCCTGAGGAAAAAGAGTAAGCAATTAAAATAATCGAGAATAATGAGTTTACAAATCCTCCCCAAGGAAGACTGAAAAAGCTGTAAGTACCACTACGCTCCTAGCTTTTGACATACTTTATCTCATTTAATCCTCAAAATAATCCTGTAAAGATTGATTCCTAATTTTTGGGGTGAGAAAACTCAGGTTCAGAGAGGTCAAATATCTTGCTCTATGTCAGTGGCTGGTAGGAGACCAAGGAGCTGAACCTAGGCTTGCTTAAATAAGGCCCATGCTACTTTGTTATCATCGGTACACATTTGTTGAAAAGAACAGAATTTACCAATTCACCCTATGGGTGCTCTCCAGTGGTGTGCTGAAGTTGGCTCACCCCAACTGTTAAATATTCAGGAATTTTGTGAGTCATTGTTAAATCCGGCCACTACTAAAAATTAAATTATATAAACTTAAATAAATTATATTAAAACAAAGCTTATAAATACTCCAAATTCATAACTTTTTATTTGTTTCACTACATTTTACTACCGTCTGTGTNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 21,811
|
Evaluate this variant at chromosome 1, position 215640624, gene USH2A (usherin): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39']
|
ACCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGTGTATTGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAAAAACAACAACAAAAAAAAAACAAAAAAAAAAACTCTGACAACACTTGGCACAATTTCTTCTGTATAGTCTATGCTAATATATTAGGACTCCAAGTATGTATAAACAAACATATGTGTGTTTCTTGAGGAAGATGAATAGGTGCTACGCCAAGTATAATATGAGTTGTTTACCAAGTCCAGTAGAGGTATCATATTGGATCAACGGCGTCTTAACACTTCCTTCGTCAGTCGTGCAGATGACCTGGAAAAAGAAGGCTAGACAAAAGGAAGAACTGGTAAATGACTTGTTCATTCAACACCTACAAATAGGGCACATGCTTTTAAAAGAGCAATGCATCATAGCATGAAAAATAGGATTCCAAAGCAAGTTATGACGTTTTATATAATATTCAAAATTACTTCTAATTTTAAAATGTTTAAGAAAAAAAGCTATCATTAGTGTAATAATAGCCTATCCATAAGTAATAGAGCTAAGGAAAATTAGAGCTTATACAGCAAAGGAAAAGAACATCAGACGAGTAAAGGGTAATACACAAAGCGCATCTTGTTCTGCACACGGTTTAAATCCTTCCTTTAAAATTTACAGGTGTACTTTCCACTAAATGACCTAGAGTTTCTTACTGAACAGGAGAGCTCAAAAGGGATCCTAGAAATCACATGGTCTAAATTGCTCTTCCAATGGCCAGGAACCTGAGGGAAGTGACCCTTGCAAGGTCACACAGATGGTTATAGGCCTGGCCAGGTAGAACCTGTGTCTCCCAACCATCAGGCCACCTTCCTTTCCCAAAGAGCTGCCCAGGTGACCATGAACTGTAACAATGAACATGTGTAGCTGAATCTTTGTAAAAATGTTATTAAGTTTCTATTACTATACATGCAATGCTGGAGCTCACTGTTTACCTCTACCTTACAGCCAAAATAAAATACTCATTAATCAATTCATTATATAGTGAACATTGGTCCTGTGAGCATGCTGATCACTATAAAATACTTAGCACCTTGTAAAGCATTTTCTCATTTCAATTTAAAAACAAGGCAAGGAGAAAAGGGACATGTAAGTAAACAGGAAGAAGGAACTCCATTTTAGAGGGTCAAGATTGTTCTTTCAGGGGCTGATATCAAGGAAGGTTAAGGAAACCCCTTATTCAGGTCCTCATGAGTTGGAGATAGTTATTTCCTGATAGGGCTCTGTTTGGAGACTGGAGATACAGCAAGAAAATCTATGAAGTTGCTAGAAGTGTATTATTTTAGGGTAGTCATTGACTATGTATGGGTGCTATTTCTTTTGTGAACCCAACTGGCCCTTGGGTCTTATCCCTTCCTGGGGACCCTCCAGTCCTGTGGAGGCAGCGCTGTCCCCTTGAACTGCATTATAACTGCAGTGCTGTCAAGCTGCAAATGGGAAGGAAAGAAAACCTTATTTATCCTGAGCAGTAACTTTTTCACAAGAAGGGGGCACTTAAACCAAGACATTTTAATGGTGAGCATCTGCTGGTCAGCTTTCAGATTTAGCATCCCGTAAAGCTGGGGAACAGAGCGCCTTCCACACTGAGAAACAGGAGTCAGAAACTAACTTTTGTCCGCCGTTCTCGGTATGTAGAGGGTGGTGTCCAAGCCGCTGTACACGCGTCGCCCTCCGTCGGTTAACACGTACTCCTTCAGTTGGCCGTTCAGGAGGAAGGTGTCACTCCAGTTCACACACACCACAGACAAATTGCTGTCCACCGAAAATGGGGCTCGGTACTGAGGCACTGTGGGGAGAAAGTTGTATGTTCTAAAAAGGGTAACCTCTTTGAAGGAGTGCAGGTGTGCACTTTAAAAAAAAAAAATATGAGCAAAATCAAACCGAACCAATCCAAACAAAAAAAAAAAAAAAAAAGAAAACCAACATTGCTAGAATCCTTCACTTTTTCCTCAGTATTACGAAACAACCAGTATCAGGGGTGAAAAGAAAACCAATGGGAACATGTGTGAAATGCTTTCTCAGCAACTTTATGCCTGCTTTAAAAAAAATCGATAGAGAGTGGTGTTTTATAAATAAAACTATTAACATACAATGGATCTGCTCACCAGCATAACCCTGGAGCTCATATTTTGTTGCATTTTCCCTCTTTTTAACAGGTAAAGTATCCTTAATACTATTAAGTACAGTAGATAGCTATTTTTCATATCAAATCAATATTTATTGCCACAAAGCCCCAAGGACTAGATGAAGTTAATATATTTTTTTCTCCAAACCAAACTGCTTAGATGGTGAATTACGTCCTTTTGGCACCCATTTATTGTTAAAGCTTTTTCTCAAACTGTTAGTTTGTTTTCTAAGATAGTTAAAAAGCCTTGCAAACAGTAATTCAAGTATAATAATTCATGGCCCTGACTAATCAATCAATAGCATAGTACATTAGTATATAATCAAGCTCAGGTGTCCTAAGTATTATATCACATATAGAAGCAACTTTGTGTGCATTTCACAGGCACATTCTCTTGATTTTTCAGTTCCTTACTAAAACAAAAAGAAAATCCTTAACTGGGGCTCACCTTTTAAATGAATAATTTTTGTGGAAACAAATGAAGGGATACCATGTCATCTTGTCAAGTCAGAAGAGATTTATTTCATGAGATCTTATTTTCTACAAAATAATCAATATATTTGTAAAAACATTAAGATTCACCTATATACCAAATTGGCTTTTAAGAAAAGAAAGGAGTGAGTAGTGAGACTAAATTGAATCTGATTCTTTTTCTTTAAAAATCAATCCATCTATTTCTGATGTTAGGAAATATAACAAAATAAGGAATAATTATGCTTTTGTAATTGTAATATTCAACCGTAAAGACACAGTTGATTGTTATCTTTCAAAATAAGATATTTTCATAAAGCCATAAGAAAAATTTTCTGCAAACACCAAAACAAGAGTTATCAAGCCCTCTTTAAATCTCAATGCTTTTCCAACATTGATTCTGCCTGATATCACAAGGAATACTCTATTGTTATTTGTCTATGACTTCTCTCCATCACCTTAGTTCAGTAGATTTTCACTTTTTCCCTATATCATAACAGCACAGATAAAGAAACAGCTTGTAACTAGCAAGAAAATAGAAAGATAGGAGTCTTATTTGTCCTGTAGGGTTTGGAGACCTTCCTGAGGAAAAAGAGTAAGCAATTAAAATAATCGAGAATAATGAGTTTACAAATCCTCCCCAAGGAAGACTGAAAAAGCTGTAAGTACCACTACGCTCCTAGCTTTTGACATACTTTATCTCATTTAATCCTCAAAATAATCCTGTAAAGATTGATTCCTAATTTTTGGGGTGAGAAAACTCAGGTTCAGAGAGGTCAAATATCTTGCTCTATGTCAGTGGCTGGTAGGAGACCAAGGAGCTGAACCTAGGCTTGCTTAAATAAGGCCCATGCTACTTTGTTATCATCGGTACACATTTGTTGAAAAGAACAGAATTTACCAATTCACCCTATGGGTGCTCTCCAGTGGTGTGCTGAAGTTGGCTCACCCCAACTGTTAAATATTCAGGAATTTTGTGAGTCATTGTTAAATCCGGCCACTACTAAAAATTAAATTATATAAACTTAAATAAATTATATTAAAACAAAGCTTATAAATACTCCAAATTCATAACTTTTTATTTGTTTCACTACATTTTACTACCGTCTGTGTGCTCGAGGTCATTT
|
ACCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGTGTATTGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAAAAACAACAACAAAAAAAAAACAAAAAAAAAAACTCTGACAACACTTGGCACAATTTCTTCTGTATAGTCTATGCTAATATATTAGGACTCCAAGTATGTATAAACAAACATATGTGTGTTTCTTGAGGAAGATGAATAGGTGCTACGCCAAGTATAATATGAGTTGTTTACCAAGTCCAGTAGAGGTATCATATTGGATCAACGGCGTCTTAACACTTCCTTCGTCAGTCGTGCAGATGACCTGGAAAAAGAAGGCTAGACAAAAGGAAGAACTGGTAAATGACTTGTTCATTCAACACCTACAAATAGGGCACATGCTTTTAAAAGAGCAATGCATCATAGCATGAAAAATAGGATTCCAAAGCAAGTTATGACGTTTTATATAATATTCAAAATTACTTCTAATTTTAAAATGTTTAAGAAAAAAAGCTATCATTAGTGTAATAATAGCCTATCCATAAGTAATAGAGCTAAGGAAAATTAGAGCTTATACAGCAAAGGAAAAGAACATCAGACGAGTAAAGGGTAATACACAAAGCGCATCTTGTTCTGCACACGGTTTAAATCCTTCCTTTAAAATTTACAGGTGTACTTTCCACTAAATGACCTAGAGTTTCTTACTGAACAGGAGAGCTCAAAAGGGATCCTAGAAATCACATGGTCTAAATTGCTCTTCCAATGGCCAGGAACCTGAGGGAAGTGACCCTTGCAAGGTCACACAGATGGTTATAGGCCTGGCCAGGTAGAACCTGTGTCTCCCAACCATCAGGCCACCTTCCTTTCCCAAAGAGCTGCCCAGGTGACCATGAACTGTAACAATGAACATGTGTAGCTGAATCTTTGTAAAAATGTTATTAAGTTTCTATTACTATACATGCAATGCTGGAGCTCACTGTTTACCTCTACCTTACAGCCAAAATAAAATACTCATTAATCAATTCATTATATAGTGAACATTGGTCCTGTGAGCATGCTGATCACTATAAAATACTTAGCACCTTGTAAAGCATTTTCTCATTTCAATTTAAAAACAAGGCAAGGAGAAAAGGGACATGTAAGTAAACAGGAAGAAGGAACTCCATTTTAGAGGGTCAAGATTGTTCTTTCAGGGGCTGATATCAAGGAAGGTTAAGGAAACCCCTTATTCAGGTCCTCATGAGTTGGAGATAGTTATTTCCTGATAGGGCTCTGTTTGGAGACTGGAGATACAGCAAGAAAATCTATGAAGTTGCTAGAAGTGTATTATTTTAGGGTAGTCATTGACTATGTATGGGTGCTATTTCTTTTGTGAACCCAACTGGCCCTTGGGTCTTATCCCTTCCTGGGGACCCTCCAGTCCTGTGGAGGCAGCGCTGTCCCCTTGAACTGCATTATAACTGCAGTGCTGTCAAGCTGCAAATGGGAAGGAAAGAAAACCTTATTTATCCTGAGCAGTAACTTTTTCACAAGAAGGGGGCACTTAAACCAAGACATTTTAATGGTGAGCATCTGCTGGTCAGCTTTCAGATTTAGCATCCCGTAAAGCTGGGGAACAGAGCGCCTTCCACACTGAGAAACAGGAGTCAGAAACTAACTTTTGTCCGCCGTTCTCGGTATGTAGAGGGTGGTGTCCAAGCCGCTGTACACGCGTCGCCCTCCGTCGGAGGAAGGTGTCACTCCAGTTCACACACACCACAGACAAATTGCTGTCCACCGAAAATGGGGCTCGGTACTGAGGCACTGTGGGGAGAAAGTTGTATGTTCTAAAAAGGGTAACCTCTTTGAAGGAGTGCAGGTGTGCACTTTAAAAAAAAAAAATATGAGCAAAATCAAACCGAACCAATCCAAACAAAAAAAAAAAAAAAAAAGAAAACCAACATTGCTAGAATCCTTCACTTTTTCCTCAGTATTACGAAACAACCAGTATCAGGGGTGAAAAGAAAACCAATGGGAACATGTGTGAAATGCTTTCTCAGCAACTTTATGCCTGCTTTAAAAAAAATCGATAGAGAGTGGTGTTTTATAAATAAAACTATTAACATACAATGGATCTGCTCACCAGCATAACCCTGGAGCTCATATTTTGTTGCATTTTCCCTCTTTTTAACAGGTAAAGTATCCTTAATACTATTAAGTACAGTAGATAGCTATTTTTCATATCAAATCAATATTTATTGCCACAAAGCCCCAAGGACTAGATGAAGTTAATATATTTTTTTCTCCAAACCAAACTGCTTAGATGGTGAATTACGTCCTTTTGGCACCCATTTATTGTTAAAGCTTTTTCTCAAACTGTTAGTTTGTTTTCTAAGATAGTTAAAAAGCCTTGCAAACAGTAATTCAAGTATAATAATTCATGGCCCTGACTAATCAATCAATAGCATAGTACATTAGTATATAATCAAGCTCAGGTGTCCTAAGTATTATATCACATATAGAAGCAACTTTGTGTGCATTTCACAGGCACATTCTCTTGATTTTTCAGTTCCTTACTAAAACAAAAAGAAAATCCTTAACTGGGGCTCACCTTTTAAATGAATAATTTTTGTGGAAACAAATGAAGGGATACCATGTCATCTTGTCAAGTCAGAAGAGATTTATTTCATGAGATCTTATTTTCTACAAAATAATCAATATATTTGTAAAAACATTAAGATTCACCTATATACCAAATTGGCTTTTAAGAAAAGAAAGGAGTGAGTAGTGAGACTAAATTGAATCTGATTCTTTTTCTTTAAAAATCAATCCATCTATTTCTGATGTTAGGAAATATAACAAAATAAGGAATAATTATGCTTTTGTAATTGTAATATTCAACCGTAAAGACACAGTTGATTGTTATCTTTCAAAATAAGATATTTTCATAAAGCCATAAGAAAAATTTTCTGCAAACACCAAAACAAGAGTTATCAAGCCCTCTTTAAATCTCAATGCTTTTCCAACATTGATTCTGCCTGATATCACAAGGAATACTCTATTGTTATTTGTCTATGACTTCTCTCCATCACCTTAGTTCAGTAGATTTTCACTTTTTCCCTATATCATAACAGCACAGATAAAGAAACAGCTTGTAACTAGCAAGAAAATAGAAAGATAGGAGTCTTATTTGTCCTGTAGGGTTTGGAGACCTTCCTGAGGAAAAAGAGTAAGCAATTAAAATAATCGAGAATAATGAGTTTACAAATCCTCCCCAAGGAAGACTGAAAAAGCTGTAAGTACCACTACGCTCCTAGCTTTTGACATACTTTATCTCATTTAATCCTCAAAATAATCCTGTAAAGATTGATTCCTAATTTTTGGGGTGAGAAAACTCAGGTTCAGAGAGGTCAAATATCTTGCTCTATGTCAGTGGCTGGTAGGAGACCAAGGAGCTGAACCTAGGCTTGCTTAAATAAGGCCCATGCTACTTTGTTATCATCGGTACACATTTGTTGAAAAGAACAGAATTTACCAATTCACCCTATGGGTGCTCTCCAGTGGTGTGCTGAAGTTGGCTCACCCCAACTGTTAAATATTCAGGAATTTTGTGAGTCATTGTTAAATCCGGCCACTACTAAAAATTAAATTATATAAACTTAAATAAATTATATTAAAACAAAGCTTATAAATACTCCAAATTCATAACTTTTTATTTGTTTCACTACATTTTACTACCGTCTGTGTGCTCGAGGTCATTTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 21,814
|
A genetic variant on chromosome 1, position 215640625, affects the gene USH2A (usherin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Retinitis_pigmentosa_39']
|
CCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGTGTATTGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAAAAACAACAACAAAAAAAAAACAAAAAAAAAAACTCTGACAACACTTGGCACAATTTCTTCTGTATAGTCTATGCTAATATATTAGGACTCCAAGTATGTATAAACAAACATATGTGTGTTTCTTGAGGAAGATGAATAGGTGCTACGCCAAGTATAATATGAGTTGTTTACCAAGTCCAGTAGAGGTATCATATTGGATCAACGGCGTCTTAACACTTCCTTCGTCAGTCGTGCAGATGACCTGGAAAAAGAAGGCTAGACAAAAGGAAGAACTGGTAAATGACTTGTTCATTCAACACCTACAAATAGGGCACATGCTTTTAAAAGAGCAATGCATCATAGCATGAAAAATAGGATTCCAAAGCAAGTTATGACGTTTTATATAATATTCAAAATTACTTCTAATTTTAAAATGTTTAAGAAAAAAAGCTATCATTAGTGTAATAATAGCCTATCCATAAGTAATAGAGCTAAGGAAAATTAGAGCTTATACAGCAAAGGAAAAGAACATCAGACGAGTAAAGGGTAATACACAAAGCGCATCTTGTTCTGCACACGGTTTAAATCCTTCCTTTAAAATTTACAGGTGTACTTTCCACTAAATGACCTAGAGTTTCTTACTGAACAGGAGAGCTCAAAAGGGATCCTAGAAATCACATGGTCTAAATTGCTCTTCCAATGGCCAGGAACCTGAGGGAAGTGACCCTTGCAAGGTCACACAGATGGTTATAGGCCTGGCCAGGTAGAACCTGTGTCTCCCAACCATCAGGCCACCTTCCTTTCCCAAAGAGCTGCCCAGGTGACCATGAACTGTAACAATGAACATGTGTAGCTGAATCTTTGTAAAAATGTTATTAAGTTTCTATTACTATACATGCAATGCTGGAGCTCACTGTTTACCTCTACCTTACAGCCAAAATAAAATACTCATTAATCAATTCATTATATAGTGAACATTGGTCCTGTGAGCATGCTGATCACTATAAAATACTTAGCACCTTGTAAAGCATTTTCTCATTTCAATTTAAAAACAAGGCAAGGAGAAAAGGGACATGTAAGTAAACAGGAAGAAGGAACTCCATTTTAGAGGGTCAAGATTGTTCTTTCAGGGGCTGATATCAAGGAAGGTTAAGGAAACCCCTTATTCAGGTCCTCATGAGTTGGAGATAGTTATTTCCTGATAGGGCTCTGTTTGGAGACTGGAGATACAGCAAGAAAATCTATGAAGTTGCTAGAAGTGTATTATTTTAGGGTAGTCATTGACTATGTATGGGTGCTATTTCTTTTGTGAACCCAACTGGCCCTTGGGTCTTATCCCTTCCTGGGGACCCTCCAGTCCTGTGGAGGCAGCGCTGTCCCCTTGAACTGCATTATAACTGCAGTGCTGTCAAGCTGCAAATGGGAAGGAAAGAAAACCTTATTTATCCTGAGCAGTAACTTTTTCACAAGAAGGGGGCACTTAAACCAAGACATTTTAATGGTGAGCATCTGCTGGTCAGCTTTCAGATTTAGCATCCCGTAAAGCTGGGGAACAGAGCGCCTTCCACACTGAGAAACAGGAGTCAGAAACTAACTTTTGTCCGCCGTTCTCGGTATGTAGAGGGTGGTGTCCAAGCCGCTGTACACGCGTCGCCCTCCGTCGGTTAACACGTACTCCTTCAGTTGGCCGTTCAGGAGGAAGGTGTCACTCCAGTTCACACACACCACAGACAAATTGCTGTCCACCGAAAATGGGGCTCGGTACTGAGGCACTGTGGGGAGAAAGTTGTATGTTCTAAAAAGGGTAACCTCTTTGAAGGAGTGCAGGTGTGCACTTTAAAAAAAAAAAATATGAGCAAAATCAAACCGAACCAATCCAAACAAAAAAAAAAAAAAAAAAGAAAACCAACATTGCTAGAATCCTTCACTTTTTCCTCAGTATTACGAAACAACCAGTATCAGGGGTGAAAAGAAAACCAATGGGAACATGTGTGAAATGCTTTCTCAGCAACTTTATGCCTGCTTTAAAAAAAATCGATAGAGAGTGGTGTTTTATAAATAAAACTATTAACATACAATGGATCTGCTCACCAGCATAACCCTGGAGCTCATATTTTGTTGCATTTTCCCTCTTTTTAACAGGTAAAGTATCCTTAATACTATTAAGTACAGTAGATAGCTATTTTTCATATCAAATCAATATTTATTGCCACAAAGCCCCAAGGACTAGATGAAGTTAATATATTTTTTTCTCCAAACCAAACTGCTTAGATGGTGAATTACGTCCTTTTGGCACCCATTTATTGTTAAAGCTTTTTCTCAAACTGTTAGTTTGTTTTCTAAGATAGTTAAAAAGCCTTGCAAACAGTAATTCAAGTATAATAATTCATGGCCCTGACTAATCAATCAATAGCATAGTACATTAGTATATAATCAAGCTCAGGTGTCCTAAGTATTATATCACATATAGAAGCAACTTTGTGTGCATTTCACAGGCACATTCTCTTGATTTTTCAGTTCCTTACTAAAACAAAAAGAAAATCCTTAACTGGGGCTCACCTTTTAAATGAATAATTTTTGTGGAAACAAATGAAGGGATACCATGTCATCTTGTCAAGTCAGAAGAGATTTATTTCATGAGATCTTATTTTCTACAAAATAATCAATATATTTGTAAAAACATTAAGATTCACCTATATACCAAATTGGCTTTTAAGAAAAGAAAGGAGTGAGTAGTGAGACTAAATTGAATCTGATTCTTTTTCTTTAAAAATCAATCCATCTATTTCTGATGTTAGGAAATATAACAAAATAAGGAATAATTATGCTTTTGTAATTGTAATATTCAACCGTAAAGACACAGTTGATTGTTATCTTTCAAAATAAGATATTTTCATAAAGCCATAAGAAAAATTTTCTGCAAACACCAAAACAAGAGTTATCAAGCCCTCTTTAAATCTCAATGCTTTTCCAACATTGATTCTGCCTGATATCACAAGGAATACTCTATTGTTATTTGTCTATGACTTCTCTCCATCACCTTAGTTCAGTAGATTTTCACTTTTTCCCTATATCATAACAGCACAGATAAAGAAACAGCTTGTAACTAGCAAGAAAATAGAAAGATAGGAGTCTTATTTGTCCTGTAGGGTTTGGAGACCTTCCTGAGGAAAAAGAGTAAGCAATTAAAATAATCGAGAATAATGAGTTTACAAATCCTCCCCAAGGAAGACTGAAAAAGCTGTAAGTACCACTACGCTCCTAGCTTTTGACATACTTTATCTCATTTAATCCTCAAAATAATCCTGTAAAGATTGATTCCTAATTTTTGGGGTGAGAAAACTCAGGTTCAGAGAGGTCAAATATCTTGCTCTATGTCAGTGGCTGGTAGGAGACCAAGGAGCTGAACCTAGGCTTGCTTAAATAAGGCCCATGCTACTTTGTTATCATCGGTACACATTTGTTGAAAAGAACAGAATTTACCAATTCACCCTATGGGTGCTCTCCAGTGGTGTGCTGAAGTTGGCTCACCCCAACTGTTAAATATTCAGGAATTTTGTGAGTCATTGTTAAATCCGGCCACTACTAAAAATTAAATTATATAAACTTAAATAAATTATATTAAAACAAAGCTTATAAATACTCCAAATTCATAACTTTTTATTTGTTTCACTACATTTTACTACCGTCTGTGTGCTCGAGGTCATTTA
|
CCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGTGTATTGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAAAAACAACAACAAAAAAAAAACAAAAAAAAAAACTCTGACAACACTTGGCACAATTTCTTCTGTATAGTCTATGCTAATATATTAGGACTCCAAGTATGTATAAACAAACATATGTGTGTTTCTTGAGGAAGATGAATAGGTGCTACGCCAAGTATAATATGAGTTGTTTACCAAGTCCAGTAGAGGTATCATATTGGATCAACGGCGTCTTAACACTTCCTTCGTCAGTCGTGCAGATGACCTGGAAAAAGAAGGCTAGACAAAAGGAAGAACTGGTAAATGACTTGTTCATTCAACACCTACAAATAGGGCACATGCTTTTAAAAGAGCAATGCATCATAGCATGAAAAATAGGATTCCAAAGCAAGTTATGACGTTTTATATAATATTCAAAATTACTTCTAATTTTAAAATGTTTAAGAAAAAAAGCTATCATTAGTGTAATAATAGCCTATCCATAAGTAATAGAGCTAAGGAAAATTAGAGCTTATACAGCAAAGGAAAAGAACATCAGACGAGTAAAGGGTAATACACAAAGCGCATCTTGTTCTGCACACGGTTTAAATCCTTCCTTTAAAATTTACAGGTGTACTTTCCACTAAATGACCTAGAGTTTCTTACTGAACAGGAGAGCTCAAAAGGGATCCTAGAAATCACATGGTCTAAATTGCTCTTCCAATGGCCAGGAACCTGAGGGAAGTGACCCTTGCAAGGTCACACAGATGGTTATAGGCCTGGCCAGGTAGAACCTGTGTCTCCCAACCATCAGGCCACCTTCCTTTCCCAAAGAGCTGCCCAGGTGACCATGAACTGTAACAATGAACATGTGTAGCTGAATCTTTGTAAAAATGTTATTAAGTTTCTATTACTATACATGCAATGCTGGAGCTCACTGTTTACCTCTACCTTACAGCCAAAATAAAATACTCATTAATCAATTCATTATATAGTGAACATTGGTCCTGTGAGCATGCTGATCACTATAAAATACTTAGCACCTTGTAAAGCATTTTCTCATTTCAATTTAAAAACAAGGCAAGGAGAAAAGGGACATGTAAGTAAACAGGAAGAAGGAACTCCATTTTAGAGGGTCAAGATTGTTCTTTCAGGGGCTGATATCAAGGAAGGTTAAGGAAACCCCTTATTCAGGTCCTCATGAGTTGGAGATAGTTATTTCCTGATAGGGCTCTGTTTGGAGACTGGAGATACAGCAAGAAAATCTATGAAGTTGCTAGAAGTGTATTATTTTAGGGTAGTCATTGACTATGTATGGGTGCTATTTCTTTTGTGAACCCAACTGGCCCTTGGGTCTTATCCCTTCCTGGGGACCCTCCAGTCCTGTGGAGGCAGCGCTGTCCCCTTGAACTGCATTATAACTGCAGTGCTGTCAAGCTGCAAATGGGAAGGAAAGAAAACCTTATTTATCCTGAGCAGTAACTTTTTCACAAGAAGGGGGCACTTAAACCAAGACATTTTAATGGTGAGCATCTGCTGGTCAGCTTTCAGATTTAGCATCCCGTAAAGCTGGGGAACAGAGCGCCTTCCACACTGAGAAACAGGAGTCAGAAACTAACTTTTGTCCGCCGTTCTCGGTATGTAGAGGGTGGTGTCCAAGCCGCTGTACACGCGTCGCCCTCCGTCGGTACTCCTTCAGTTGGCCGTTCAGGAGGAAGGTGTCACTCCAGTTCACACACACCACAGACAAATTGCTGTCCACCGAAAATGGGGCTCGGTACTGAGGCACTGTGGGGAGAAAGTTGTATGTTCTAAAAAGGGTAACCTCTTTGAAGGAGTGCAGGTGTGCACTTTAAAAAAAAAAAATATGAGCAAAATCAAACCGAACCAATCCAAACAAAAAAAAAAAAAAAAAAGAAAACCAACATTGCTAGAATCCTTCACTTTTTCCTCAGTATTACGAAACAACCAGTATCAGGGGTGAAAAGAAAACCAATGGGAACATGTGTGAAATGCTTTCTCAGCAACTTTATGCCTGCTTTAAAAAAAATCGATAGAGAGTGGTGTTTTATAAATAAAACTATTAACATACAATGGATCTGCTCACCAGCATAACCCTGGAGCTCATATTTTGTTGCATTTTCCCTCTTTTTAACAGGTAAAGTATCCTTAATACTATTAAGTACAGTAGATAGCTATTTTTCATATCAAATCAATATTTATTGCCACAAAGCCCCAAGGACTAGATGAAGTTAATATATTTTTTTCTCCAAACCAAACTGCTTAGATGGTGAATTACGTCCTTTTGGCACCCATTTATTGTTAAAGCTTTTTCTCAAACTGTTAGTTTGTTTTCTAAGATAGTTAAAAAGCCTTGCAAACAGTAATTCAAGTATAATAATTCATGGCCCTGACTAATCAATCAATAGCATAGTACATTAGTATATAATCAAGCTCAGGTGTCCTAAGTATTATATCACATATAGAAGCAACTTTGTGTGCATTTCACAGGCACATTCTCTTGATTTTTCAGTTCCTTACTAAAACAAAAAGAAAATCCTTAACTGGGGCTCACCTTTTAAATGAATAATTTTTGTGGAAACAAATGAAGGGATACCATGTCATCTTGTCAAGTCAGAAGAGATTTATTTCATGAGATCTTATTTTCTACAAAATAATCAATATATTTGTAAAAACATTAAGATTCACCTATATACCAAATTGGCTTTTAAGAAAAGAAAGGAGTGAGTAGTGAGACTAAATTGAATCTGATTCTTTTTCTTTAAAAATCAATCCATCTATTTCTGATGTTAGGAAATATAACAAAATAAGGAATAATTATGCTTTTGTAATTGTAATATTCAACCGTAAAGACACAGTTGATTGTTATCTTTCAAAATAAGATATTTTCATAAAGCCATAAGAAAAATTTTCTGCAAACACCAAAACAAGAGTTATCAAGCCCTCTTTAAATCTCAATGCTTTTCCAACATTGATTCTGCCTGATATCACAAGGAATACTCTATTGTTATTTGTCTATGACTTCTCTCCATCACCTTAGTTCAGTAGATTTTCACTTTTTCCCTATATCATAACAGCACAGATAAAGAAACAGCTTGTAACTAGCAAGAAAATAGAAAGATAGGAGTCTTATTTGTCCTGTAGGGTTTGGAGACCTTCCTGAGGAAAAAGAGTAAGCAATTAAAATAATCGAGAATAATGAGTTTACAAATCCTCCCCAAGGAAGACTGAAAAAGCTGTAAGTACCACTACGCTCCTAGCTTTTGACATACTTTATCTCATTTAATCCTCAAAATAATCCTGTAAAGATTGATTCCTAATTTTTGGGGTGAGAAAACTCAGGTTCAGAGAGGTCAAATATCTTGCTCTATGTCAGTGGCTGGTAGGAGACCAAGGAGCTGAACCTAGGCTTGCTTAAATAAGGCCCATGCTACTTTGTTATCATCGGTACACATTTGTTGAAAAGAACAGAATTTACCAATTCACCCTATGGGTGCTCTCCAGTGGTGTGCTGAAGTTGGCTCACCCCAACTGTTAAATATTCAGGAATTTTGTGAGTCATTGTTAAATCCGGCCACTACTAAAAATTAAATTATATAAACTTAAATAAATTATATTAAAACAAAGCTTATAAATACTCCAAATTCATAACTTTTTATTTGTTTCACTACATTTTACTACCGTCTGTGTGCTCGAGGTCATTTANNNNNNNN
|
pathogenic
| 21,816
|
Classify the chromosome 1 variant at position 215640640 affecting gene USH2A (usherin) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['Usher_syndrome', 'Usher_syndrome_type_2A']
|
CTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGTGTATTGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAAAAACAACAACAAAAAAAAAACAAAAAAAAAAACTCTGACAACACTTGGCACAATTTCTTCTGTATAGTCTATGCTAATATATTAGGACTCCAAGTATGTATAAACAAACATATGTGTGTTTCTTGAGGAAGATGAATAGGTGCTACGCCAAGTATAATATGAGTTGTTTACCAAGTCCAGTAGAGGTATCATATTGGATCAACGGCGTCTTAACACTTCCTTCGTCAGTCGTGCAGATGACCTGGAAAAAGAAGGCTAGACAAAAGGAAGAACTGGTAAATGACTTGTTCATTCAACACCTACAAATAGGGCACATGCTTTTAAAAGAGCAATGCATCATAGCATGAAAAATAGGATTCCAAAGCAAGTTATGACGTTTTATATAATATTCAAAATTACTTCTAATTTTAAAATGTTTAAGAAAAAAAGCTATCATTAGTGTAATAATAGCCTATCCATAAGTAATAGAGCTAAGGAAAATTAGAGCTTATACAGCAAAGGAAAAGAACATCAGACGAGTAAAGGGTAATACACAAAGCGCATCTTGTTCTGCACACGGTTTAAATCCTTCCTTTAAAATTTACAGGTGTACTTTCCACTAAATGACCTAGAGTTTCTTACTGAACAGGAGAGCTCAAAAGGGATCCTAGAAATCACATGGTCTAAATTGCTCTTCCAATGGCCAGGAACCTGAGGGAAGTGACCCTTGCAAGGTCACACAGATGGTTATAGGCCTGGCCAGGTAGAACCTGTGTCTCCCAACCATCAGGCCACCTTCCTTTCCCAAAGAGCTGCCCAGGTGACCATGAACTGTAACAATGAACATGTGTAGCTGAATCTTTGTAAAAATGTTATTAAGTTTCTATTACTATACATGCAATGCTGGAGCTCACTGTTTACCTCTACCTTACAGCCAAAATAAAATACTCATTAATCAATTCATTATATAGTGAACATTGGTCCTGTGAGCATGCTGATCACTATAAAATACTTAGCACCTTGTAAAGCATTTTCTCATTTCAATTTAAAAACAAGGCAAGGAGAAAAGGGACATGTAAGTAAACAGGAAGAAGGAACTCCATTTTAGAGGGTCAAGATTGTTCTTTCAGGGGCTGATATCAAGGAAGGTTAAGGAAACCCCTTATTCAGGTCCTCATGAGTTGGAGATAGTTATTTCCTGATAGGGCTCTGTTTGGAGACTGGAGATACAGCAAGAAAATCTATGAAGTTGCTAGAAGTGTATTATTTTAGGGTAGTCATTGACTATGTATGGGTGCTATTTCTTTTGTGAACCCAACTGGCCCTTGGGTCTTATCCCTTCCTGGGGACCCTCCAGTCCTGTGGAGGCAGCGCTGTCCCCTTGAACTGCATTATAACTGCAGTGCTGTCAAGCTGCAAATGGGAAGGAAAGAAAACCTTATTTATCCTGAGCAGTAACTTTTTCACAAGAAGGGGGCACTTAAACCAAGACATTTTAATGGTGAGCATCTGCTGGTCAGCTTTCAGATTTAGCATCCCGTAAAGCTGGGGAACAGAGCGCCTTCCACACTGAGAAACAGGAGTCAGAAACTAACTTTTGTCCGCCGTTCTCGGTATGTAGAGGGTGGTGTCCAAGCCGCTGTACACGCGTCGCCCTCCGTCGGTTAACACGTACTCCTTCAGTTGGCCGTTCAGGAGGAAGGTGTCACTCCAGTTCACACACACCACAGACAAATTGCTGTCCACCGAAAATGGGGCTCGGTACTGAGGCACTGTGGGGAGAAAGTTGTATGTTCTAAAAAGGGTAACCTCTTTGAAGGAGTGCAGGTGTGCACTTTAAAAAAAAAAAATATGAGCAAAATCAAACCGAACCAATCCAAACAAAAAAAAAAAAAAAAAAGAAAACCAACATTGCTAGAATCCTTCACTTTTTCCTCAGTATTACGAAACAACCAGTATCAGGGGTGAAAAGAAAACCAATGGGAACATGTGTGAAATGCTTTCTCAGCAACTTTATGCCTGCTTTAAAAAAAATCGATAGAGAGTGGTGTTTTATAAATAAAACTATTAACATACAATGGATCTGCTCACCAGCATAACCCTGGAGCTCATATTTTGTTGCATTTTCCCTCTTTTTAACAGGTAAAGTATCCTTAATACTATTAAGTACAGTAGATAGCTATTTTTCATATCAAATCAATATTTATTGCCACAAAGCCCCAAGGACTAGATGAAGTTAATATATTTTTTTCTCCAAACCAAACTGCTTAGATGGTGAATTACGTCCTTTTGGCACCCATTTATTGTTAAAGCTTTTTCTCAAACTGTTAGTTTGTTTTCTAAGATAGTTAAAAAGCCTTGCAAACAGTAATTCAAGTATAATAATTCATGGCCCTGACTAATCAATCAATAGCATAGTACATTAGTATATAATCAAGCTCAGGTGTCCTAAGTATTATATCACATATAGAAGCAACTTTGTGTGCATTTCACAGGCACATTCTCTTGATTTTTCAGTTCCTTACTAAAACAAAAAGAAAATCCTTAACTGGGGCTCACCTTTTAAATGAATAATTTTTGTGGAAACAAATGAAGGGATACCATGTCATCTTGTCAAGTCAGAAGAGATTTATTTCATGAGATCTTATTTTCTACAAAATAATCAATATATTTGTAAAAACATTAAGATTCACCTATATACCAAATTGGCTTTTAAGAAAAGAAAGGAGTGAGTAGTGAGACTAAATTGAATCTGATTCTTTTTCTTTAAAAATCAATCCATCTATTTCTGATGTTAGGAAATATAACAAAATAAGGAATAATTATGCTTTTGTAATTGTAATATTCAACCGTAAAGACACAGTTGATTGTTATCTTTCAAAATAAGATATTTTCATAAAGCCATAAGAAAAATTTTCTGCAAACACCAAAACAAGAGTTATCAAGCCCTCTTTAAATCTCAATGCTTTTCCAACATTGATTCTGCCTGATATCACAAGGAATACTCTATTGTTATTTGTCTATGACTTCTCTCCATCACCTTAGTTCAGTAGATTTTCACTTTTTCCCTATATCATAACAGCACAGATAAAGAAACAGCTTGTAACTAGCAAGAAAATAGAAAGATAGGAGTCTTATTTGTCCTGTAGGGTTTGGAGACCTTCCTGAGGAAAAAGAGTAAGCAATTAAAATAATCGAGAATAATGAGTTTACAAATCCTCCCCAAGGAAGACTGAAAAAGCTGTAAGTACCACTACGCTCCTAGCTTTTGACATACTTTATCTCATTTAATCCTCAAAATAATCCTGTAAAGATTGATTCCTAATTTTTGGGGTGAGAAAACTCAGGTTCAGAGAGGTCAAATATCTTGCTCTATGTCAGTGGCTGGTAGGAGACCAAGGAGCTGAACCTAGGCTTGCTTAAATAAGGCCCATGCTACTTTGTTATCATCGGTACACATTTGTTGAAAAGAACAGAATTTACCAATTCACCCTATGGGTGCTCTCCAGTGGTGTGCTGAAGTTGGCTCACCCCAACTGTTAAATATTCAGGAATTTTGTGAGTCATTGTTAAATCCGGCCACTACTAAAAATTAAATTATATAAACTTAAATAAATTATATTAAAACAAAGCTTATAAATACTCCAAATTCATAACTTTTTATTTGTTTCACTACATTTTACTACCGTCTGTGTGCTCGAGGTCATTTACATCCACTCTATCTG
|
CTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGTGTATTGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAAAAACAACAACAAAAAAAAAACAAAAAAAAAAACTCTGACAACACTTGGCACAATTTCTTCTGTATAGTCTATGCTAATATATTAGGACTCCAAGTATGTATAAACAAACATATGTGTGTTTCTTGAGGAAGATGAATAGGTGCTACGCCAAGTATAATATGAGTTGTTTACCAAGTCCAGTAGAGGTATCATATTGGATCAACGGCGTCTTAACACTTCCTTCGTCAGTCGTGCAGATGACCTGGAAAAAGAAGGCTAGACAAAAGGAAGAACTGGTAAATGACTTGTTCATTCAACACCTACAAATAGGGCACATGCTTTTAAAAGAGCAATGCATCATAGCATGAAAAATAGGATTCCAAAGCAAGTTATGACGTTTTATATAATATTCAAAATTACTTCTAATTTTAAAATGTTTAAGAAAAAAAGCTATCATTAGTGTAATAATAGCCTATCCATAAGTAATAGAGCTAAGGAAAATTAGAGCTTATACAGCAAAGGAAAAGAACATCAGACGAGTAAAGGGTAATACACAAAGCGCATCTTGTTCTGCACACGGTTTAAATCCTTCCTTTAAAATTTACAGGTGTACTTTCCACTAAATGACCTAGAGTTTCTTACTGAACAGGAGAGCTCAAAAGGGATCCTAGAAATCACATGGTCTAAATTGCTCTTCCAATGGCCAGGAACCTGAGGGAAGTGACCCTTGCAAGGTCACACAGATGGTTATAGGCCTGGCCAGGTAGAACCTGTGTCTCCCAACCATCAGGCCACCTTCCTTTCCCAAAGAGCTGCCCAGGTGACCATGAACTGTAACAATGAACATGTGTAGCTGAATCTTTGTAAAAATGTTATTAAGTTTCTATTACTATACATGCAATGCTGGAGCTCACTGTTTACCTCTACCTTACAGCCAAAATAAAATACTCATTAATCAATTCATTATATAGTGAACATTGGTCCTGTGAGCATGCTGATCACTATAAAATACTTAGCACCTTGTAAAGCATTTTCTCATTTCAATTTAAAAACAAGGCAAGGAGAAAAGGGACATGTAAGTAAACAGGAAGAAGGAACTCCATTTTAGAGGGTCAAGATTGTTCTTTCAGGGGCTGATATCAAGGAAGGTTAAGGAAACCCCTTATTCAGGTCCTCATGAGTTGGAGATAGTTATTTCCTGATAGGGCTCTGTTTGGAGACTGGAGATACAGCAAGAAAATCTATGAAGTTGCTAGAAGTGTATTATTTTAGGGTAGTCATTGACTATGTATGGGTGCTATTTCTTTTGTGAACCCAACTGGCCCTTGGGTCTTATCCCTTCCTGGGGACCCTCCAGTCCTGTGGAGGCAGCGCTGTCCCCTTGAACTGCATTATAACTGCAGTGCTGTCAAGCTGCAAATGGGAAGGAAAGAAAACCTTATTTATCCTGAGCAGTAACTTTTTCACAAGAAGGGGGCACTTAAACCAAGACATTTTAATGGTGAGCATCTGCTGGTCAGCTTTCAGATTTAGCATCCCGTAAAGCTGGGGAACAGAGCGCCTTCCACACTGAGAAACAGGAGTCAGAAACTAACTTTTGTCCGCCGTTCTCGGTATGTAGAGGGTGGTGTCCAAGCCGCTGTACACGCGTCGCCCTCCGTCGGTTAACACGTACTCCTTTCAGTTGGCCGTTCAGGAGGAAGGTGTCACTCCAGTTCACACACACCACAGACAAATTGCTGTCCACCGAAAATGGGGCTCGGTACTGAGGCACTGTGGGGAGAAAGTTGTATGTTCTAAAAAGGGTAACCTCTTTGAAGGAGTGCAGGTGTGCACTTTAAAAAAAAAAAATATGAGCAAAATCAAACCGAACCAATCCAAACAAAAAAAAAAAAAAAAAAGAAAACCAACATTGCTAGAATCCTTCACTTTTTCCTCAGTATTACGAAACAACCAGTATCAGGGGTGAAAAGAAAACCAATGGGAACATGTGTGAAATGCTTTCTCAGCAACTTTATGCCTGCTTTAAAAAAAATCGATAGAGAGTGGTGTTTTATAAATAAAACTATTAACATACAATGGATCTGCTCACCAGCATAACCCTGGAGCTCATATTTTGTTGCATTTTCCCTCTTTTTAACAGGTAAAGTATCCTTAATACTATTAAGTACAGTAGATAGCTATTTTTCATATCAAATCAATATTTATTGCCACAAAGCCCCAAGGACTAGATGAAGTTAATATATTTTTTTCTCCAAACCAAACTGCTTAGATGGTGAATTACGTCCTTTTGGCACCCATTTATTGTTAAAGCTTTTTCTCAAACTGTTAGTTTGTTTTCTAAGATAGTTAAAAAGCCTTGCAAACAGTAATTCAAGTATAATAATTCATGGCCCTGACTAATCAATCAATAGCATAGTACATTAGTATATAATCAAGCTCAGGTGTCCTAAGTATTATATCACATATAGAAGCAACTTTGTGTGCATTTCACAGGCACATTCTCTTGATTTTTCAGTTCCTTACTAAAACAAAAAGAAAATCCTTAACTGGGGCTCACCTTTTAAATGAATAATTTTTGTGGAAACAAATGAAGGGATACCATGTCATCTTGTCAAGTCAGAAGAGATTTATTTCATGAGATCTTATTTTCTACAAAATAATCAATATATTTGTAAAAACATTAAGATTCACCTATATACCAAATTGGCTTTTAAGAAAAGAAAGGAGTGAGTAGTGAGACTAAATTGAATCTGATTCTTTTTCTTTAAAAATCAATCCATCTATTTCTGATGTTAGGAAATATAACAAAATAAGGAATAATTATGCTTTTGTAATTGTAATATTCAACCGTAAAGACACAGTTGATTGTTATCTTTCAAAATAAGATATTTTCATAAAGCCATAAGAAAAATTTTCTGCAAACACCAAAACAAGAGTTATCAAGCCCTCTTTAAATCTCAATGCTTTTCCAACATTGATTCTGCCTGATATCACAAGGAATACTCTATTGTTATTTGTCTATGACTTCTCTCCATCACCTTAGTTCAGTAGATTTTCACTTTTTCCCTATATCATAACAGCACAGATAAAGAAACAGCTTGTAACTAGCAAGAAAATAGAAAGATAGGAGTCTTATTTGTCCTGTAGGGTTTGGAGACCTTCCTGAGGAAAAAGAGTAAGCAATTAAAATAATCGAGAATAATGAGTTTACAAATCCTCCCCAAGGAAGACTGAAAAAGCTGTAAGTACCACTACGCTCCTAGCTTTTGACATACTTTATCTCATTTAATCCTCAAAATAATCCTGTAAAGATTGATTCCTAATTTTTGGGGTGAGAAAACTCAGGTTCAGAGAGGTCAAATATCTTGCTCTATGTCAGTGGCTGGTAGGAGACCAAGGAGCTGAACCTAGGCTTGCTTAAATAAGGCCCATGCTACTTTGTTATCATCGGTACACATTTGTTGAAAAGAACAGAATTTACCAATTCACCCTATGGGTGCTCTCCAGTGGTGTGCTGAAGTTGGCTCACCCCAACTGTTAAATATTCAGGAATTTTGTGAGTCATTGTTAAATCCGGCCACTACTAAAAATTAAATTATATAAACTTAAATAAATTATATTAAAACAAAGCTTATAAATACTCCAAATTCATAACTTTTTATTTGTTTCACTACATTTTACTACCGTCTGTGTGCTCGAGGTCATTTACATCCACTCTATCT
|
pathogenic
| 21,817
|
Regarding the variant found on chromosome 1 at position 215640690 in gene USH2A (usherin): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A']
|
GTATTGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAAAAACAACAACAAAAAAAAAACAAAAAAAAAAACTCTGACAACACTTGGCACAATTTCTTCTGTATAGTCTATGCTAATATATTAGGACTCCAAGTATGTATAAACAAACATATGTGTGTTTCTTGAGGAAGATGAATAGGTGCTACGCCAAGTATAATATGAGTTGTTTACCAAGTCCAGTAGAGGTATCATATTGGATCAACGGCGTCTTAACACTTCCTTCGTCAGTCGTGCAGATGACCTGGAAAAAGAAGGCTAGACAAAAGGAAGAACTGGTAAATGACTTGTTCATTCAACACCTACAAATAGGGCACATGCTTTTAAAAGAGCAATGCATCATAGCATGAAAAATAGGATTCCAAAGCAAGTTATGACGTTTTATATAATATTCAAAATTACTTCTAATTTTAAAATGTTTAAGAAAAAAAGCTATCATTAGTGTAATAATAGCCTATCCATAAGTAATAGAGCTAAGGAAAATTAGAGCTTATACAGCAAAGGAAAAGAACATCAGACGAGTAAAGGGTAATACACAAAGCGCATCTTGTTCTGCACACGGTTTAAATCCTTCCTTTAAAATTTACAGGTGTACTTTCCACTAAATGACCTAGAGTTTCTTACTGAACAGGAGAGCTCAAAAGGGATCCTAGAAATCACATGGTCTAAATTGCTCTTCCAATGGCCAGGAACCTGAGGGAAGTGACCCTTGCAAGGTCACACAGATGGTTATAGGCCTGGCCAGGTAGAACCTGTGTCTCCCAACCATCAGGCCACCTTCCTTTCCCAAAGAGCTGCCCAGGTGACCATGAACTGTAACAATGAACATGTGTAGCTGAATCTTTGTAAAAATGTTATTAAGTTTCTATTACTATACATGCAATGCTGGAGCTCACTGTTTACCTCTACCTTACAGCCAAAATAAAATACTCATTAATCAATTCATTATATAGTGAACATTGGTCCTGTGAGCATGCTGATCACTATAAAATACTTAGCACCTTGTAAAGCATTTTCTCATTTCAATTTAAAAACAAGGCAAGGAGAAAAGGGACATGTAAGTAAACAGGAAGAAGGAACTCCATTTTAGAGGGTCAAGATTGTTCTTTCAGGGGCTGATATCAAGGAAGGTTAAGGAAACCCCTTATTCAGGTCCTCATGAGTTGGAGATAGTTATTTCCTGATAGGGCTCTGTTTGGAGACTGGAGATACAGCAAGAAAATCTATGAAGTTGCTAGAAGTGTATTATTTTAGGGTAGTCATTGACTATGTATGGGTGCTATTTCTTTTGTGAACCCAACTGGCCCTTGGGTCTTATCCCTTCCTGGGGACCCTCCAGTCCTGTGGAGGCAGCGCTGTCCCCTTGAACTGCATTATAACTGCAGTGCTGTCAAGCTGCAAATGGGAAGGAAAGAAAACCTTATTTATCCTGAGCAGTAACTTTTTCACAAGAAGGGGGCACTTAAACCAAGACATTTTAATGGTGAGCATCTGCTGGTCAGCTTTCAGATTTAGCATCCCGTAAAGCTGGGGAACAGAGCGCCTTCCACACTGAGAAACAGGAGTCAGAAACTAACTTTTGTCCGCCGTTCTCGGTATGTAGAGGGTGGTGTCCAAGCCGCTGTACACGCGTCGCCCTCCGTCGGTTAACACGTACTCCTTCAGTTGGCCGTTCAGGAGGAAGGTGTCACTCCAGTTCACACACACCACAGACAAATTGCTGTCCACCGAAAATGGGGCTCGGTACTGAGGCACTGTGGGGAGAAAGTTGTATGTTCTAAAAAGGGTAACCTCTTTGAAGGAGTGCAGGTGTGCACTTTAAAAAAAAAAAATATGAGCAAAATCAAACCGAACCAATCCAAACAAAAAAAAAAAAAAAAAAGAAAACCAACATTGCTAGAATCCTTCACTTTTTCCTCAGTATTACGAAACAACCAGTATCAGGGGTGAAAAGAAAACCAATGGGAACATGTGTGAAATGCTTTCTCAGCAACTTTATGCCTGCTTTAAAAAAAATCGATAGAGAGTGGTGTTTTATAAATAAAACTATTAACATACAATGGATCTGCTCACCAGCATAACCCTGGAGCTCATATTTTGTTGCATTTTCCCTCTTTTTAACAGGTAAAGTATCCTTAATACTATTAAGTACAGTAGATAGCTATTTTTCATATCAAATCAATATTTATTGCCACAAAGCCCCAAGGACTAGATGAAGTTAATATATTTTTTTCTCCAAACCAAACTGCTTAGATGGTGAATTACGTCCTTTTGGCACCCATTTATTGTTAAAGCTTTTTCTCAAACTGTTAGTTTGTTTTCTAAGATAGTTAAAAAGCCTTGCAAACAGTAATTCAAGTATAATAATTCATGGCCCTGACTAATCAATCAATAGCATAGTACATTAGTATATAATCAAGCTCAGGTGTCCTAAGTATTATATCACATATAGAAGCAACTTTGTGTGCATTTCACAGGCACATTCTCTTGATTTTTCAGTTCCTTACTAAAACAAAAAGAAAATCCTTAACTGGGGCTCACCTTTTAAATGAATAATTTTTGTGGAAACAAATGAAGGGATACCATGTCATCTTGTCAAGTCAGAAGAGATTTATTTCATGAGATCTTATTTTCTACAAAATAATCAATATATTTGTAAAAACATTAAGATTCACCTATATACCAAATTGGCTTTTAAGAAAAGAAAGGAGTGAGTAGTGAGACTAAATTGAATCTGATTCTTTTTCTTTAAAAATCAATCCATCTATTTCTGATGTTAGGAAATATAACAAAATAAGGAATAATTATGCTTTTGTAATTGTAATATTCAACCGTAAAGACACAGTTGATTGTTATCTTTCAAAATAAGATATTTTCATAAAGCCATAAGAAAAATTTTCTGCAAACACCAAAACAAGAGTTATCAAGCCCTCTTTAAATCTCAATGCTTTTCCAACATTGATTCTGCCTGATATCACAAGGAATACTCTATTGTTATTTGTCTATGACTTCTCTCCATCACCTTAGTTCAGTAGATTTTCACTTTTTCCCTATATCATAACAGCACAGATAAAGAAACAGCTTGTAACTAGCAAGAAAATAGAAAGATAGGAGTCTTATTTGTCCTGTAGGGTTTGGAGACCTTCCTGAGGAAAAAGAGTAAGCAATTAAAATAATCGAGAATAATGAGTTTACAAATCCTCCCCAAGGAAGACTGAAAAAGCTGTAAGTACCACTACGCTCCTAGCTTTTGACATACTTTATCTCATTTAATCCTCAAAATAATCCTGTAAAGATTGATTCCTAATTTTTGGGGTGAGAAAACTCAGGTTCAGAGAGGTCAAATATCTTGCTCTATGTCAGTGGCTGGTAGGAGACCAAGGAGCTGAACCTAGGCTTGCTTAAATAAGGCCCATGCTACTTTGTTATCATCGGTACACATTTGTTGAAAAGAACAGAATTTACCAATTCACCCTATGGGTGCTCTCCAGTGGTGTGCTGAAGTTGGCTCACCCCAACTGTTAAATATTCAGGAATTTTGTGAGTCATTGTTAAATCCGGCCACTACTAAAAATTAAATTATATAAACTTAAATAAATTATATTAAAACAAAGCTTATAAATACTCCAAATTCATAACTTTTTATTTGTTTCACTACATTTTACTACCGTCTGTGTGCTCGAGGTCATTTACATCCACTCTATCTGGCTGGTGGAAATATTATATAATGATACGCTACAACCCATCCCTTCCTAAC
|
GTATTGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAAAAACAACAACAAAAAAAAAACAAAAAAAAAAACTCTGACAACACTTGGCACAATTTCTTCTGTATAGTCTATGCTAATATATTAGGACTCCAAGTATGTATAAACAAACATATGTGTGTTTCTTGAGGAAGATGAATAGGTGCTACGCCAAGTATAATATGAGTTGTTTACCAAGTCCAGTAGAGGTATCATATTGGATCAACGGCGTCTTAACACTTCCTTCGTCAGTCGTGCAGATGACCTGGAAAAAGAAGGCTAGACAAAAGGAAGAACTGGTAAATGACTTGTTCATTCAACACCTACAAATAGGGCACATGCTTTTAAAAGAGCAATGCATCATAGCATGAAAAATAGGATTCCAAAGCAAGTTATGACGTTTTATATAATATTCAAAATTACTTCTAATTTTAAAATGTTTAAGAAAAAAAGCTATCATTAGTGTAATAATAGCCTATCCATAAGTAATAGAGCTAAGGAAAATTAGAGCTTATACAGCAAAGGAAAAGAACATCAGACGAGTAAAGGGTAATACACAAAGCGCATCTTGTTCTGCACACGGTTTAAATCCTTCCTTTAAAATTTACAGGTGTACTTTCCACTAAATGACCTAGAGTTTCTTACTGAACAGGAGAGCTCAAAAGGGATCCTAGAAATCACATGGTCTAAATTGCTCTTCCAATGGCCAGGAACCTGAGGGAAGTGACCCTTGCAAGGTCACACAGATGGTTATAGGCCTGGCCAGGTAGAACCTGTGTCTCCCAACCATCAGGCCACCTTCCTTTCCCAAAGAGCTGCCCAGGTGACCATGAACTGTAACAATGAACATGTGTAGCTGAATCTTTGTAAAAATGTTATTAAGTTTCTATTACTATACATGCAATGCTGGAGCTCACTGTTTACCTCTACCTTACAGCCAAAATAAAATACTCATTAATCAATTCATTATATAGTGAACATTGGTCCTGTGAGCATGCTGATCACTATAAAATACTTAGCACCTTGTAAAGCATTTTCTCATTTCAATTTAAAAACAAGGCAAGGAGAAAAGGGACATGTAAGTAAACAGGAAGAAGGAACTCCATTTTAGAGGGTCAAGATTGTTCTTTCAGGGGCTGATATCAAGGAAGGTTAAGGAAACCCCTTATTCAGGTCCTCATGAGTTGGAGATAGTTATTTCCTGATAGGGCTCTGTTTGGAGACTGGAGATACAGCAAGAAAATCTATGAAGTTGCTAGAAGTGTATTATTTTAGGGTAGTCATTGACTATGTATGGGTGCTATTTCTTTTGTGAACCCAACTGGCCCTTGGGTCTTATCCCTTCCTGGGGACCCTCCAGTCCTGTGGAGGCAGCGCTGTCCCCTTGAACTGCATTATAACTGCAGTGCTGTCAAGCTGCAAATGGGAAGGAAAGAAAACCTTATTTATCCTGAGCAGTAACTTTTTCACAAGAAGGGGGCACTTAAACCAAGACATTTTAATGGTGAGCATCTGCTGGTCAGCTTTCAGATTTAGCATCCCGTAAAGCTGGGGAACAGAGCGCCTTCCACACTGAGAAACAGGAGTCAGAAACTAACTTTTGTCCGCCGTTCTCGGTATGTAGAGGGTGGTGTCCAAGCCGCTGTACACGCGTCGCCCTCCGTCGGTTAACACGTACTCCTTCAGTTGGCCGTTCAGGAGGAAGGTGTCACTCCAGTTCACACACACCACGACAAATTGCTGTCCACCGAAAATGGGGCTCGGTACTGAGGCACTGTGGGGAGAAAGTTGTATGTTCTAAAAAGGGTAACCTCTTTGAAGGAGTGCAGGTGTGCACTTTAAAAAAAAAAAATATGAGCAAAATCAAACCGAACCAATCCAAACAAAAAAAAAAAAAAAAAAGAAAACCAACATTGCTAGAATCCTTCACTTTTTCCTCAGTATTACGAAACAACCAGTATCAGGGGTGAAAAGAAAACCAATGGGAACATGTGTGAAATGCTTTCTCAGCAACTTTATGCCTGCTTTAAAAAAAATCGATAGAGAGTGGTGTTTTATAAATAAAACTATTAACATACAATGGATCTGCTCACCAGCATAACCCTGGAGCTCATATTTTGTTGCATTTTCCCTCTTTTTAACAGGTAAAGTATCCTTAATACTATTAAGTACAGTAGATAGCTATTTTTCATATCAAATCAATATTTATTGCCACAAAGCCCCAAGGACTAGATGAAGTTAATATATTTTTTTCTCCAAACCAAACTGCTTAGATGGTGAATTACGTCCTTTTGGCACCCATTTATTGTTAAAGCTTTTTCTCAAACTGTTAGTTTGTTTTCTAAGATAGTTAAAAAGCCTTGCAAACAGTAATTCAAGTATAATAATTCATGGCCCTGACTAATCAATCAATAGCATAGTACATTAGTATATAATCAAGCTCAGGTGTCCTAAGTATTATATCACATATAGAAGCAACTTTGTGTGCATTTCACAGGCACATTCTCTTGATTTTTCAGTTCCTTACTAAAACAAAAAGAAAATCCTTAACTGGGGCTCACCTTTTAAATGAATAATTTTTGTGGAAACAAATGAAGGGATACCATGTCATCTTGTCAAGTCAGAAGAGATTTATTTCATGAGATCTTATTTTCTACAAAATAATCAATATATTTGTAAAAACATTAAGATTCACCTATATACCAAATTGGCTTTTAAGAAAAGAAAGGAGTGAGTAGTGAGACTAAATTGAATCTGATTCTTTTTCTTTAAAAATCAATCCATCTATTTCTGATGTTAGGAAATATAACAAAATAAGGAATAATTATGCTTTTGTAATTGTAATATTCAACCGTAAAGACACAGTTGATTGTTATCTTTCAAAATAAGATATTTTCATAAAGCCATAAGAAAAATTTTCTGCAAACACCAAAACAAGAGTTATCAAGCCCTCTTTAAATCTCAATGCTTTTCCAACATTGATTCTGCCTGATATCACAAGGAATACTCTATTGTTATTTGTCTATGACTTCTCTCCATCACCTTAGTTCAGTAGATTTTCACTTTTTCCCTATATCATAACAGCACAGATAAAGAAACAGCTTGTAACTAGCAAGAAAATAGAAAGATAGGAGTCTTATTTGTCCTGTAGGGTTTGGAGACCTTCCTGAGGAAAAAGAGTAAGCAATTAAAATAATCGAGAATAATGAGTTTACAAATCCTCCCCAAGGAAGACTGAAAAAGCTGTAAGTACCACTACGCTCCTAGCTTTTGACATACTTTATCTCATTTAATCCTCAAAATAATCCTGTAAAGATTGATTCCTAATTTTTGGGGTGAGAAAACTCAGGTTCAGAGAGGTCAAATATCTTGCTCTATGTCAGTGGCTGGTAGGAGACCAAGGAGCTGAACCTAGGCTTGCTTAAATAAGGCCCATGCTACTTTGTTATCATCGGTACACATTTGTTGAAAAGAACAGAATTTACCAATTCACCCTATGGGTGCTCTCCAGTGGTGTGCTGAAGTTGGCTCACCCCAACTGTTAAATATTCAGGAATTTTGTGAGTCATTGTTAAATCCGGCCACTACTAAAAATTAAATTATATAAACTTAAATAAATTATATTAAAACAAAGCTTATAAATACTCCAAATTCATAACTTTTTATTTGTTTCACTACATTTTACTACCGTCTGTGTGCTCGAGGTCATTTACATCCACTCTATCTGGCTGGTGGAAATATTATATAATGATACGCTACAACCCATCCCTTCCTAACN
|
pathogenic
| 21,819
|
Gene mutation in USH2A (usherin) at chromosome 1, position 215640694—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Retinitis_pigmentosa_39']
|
TGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAAAAACAACAACAAAAAAAAAACAAAAAAAAAAACTCTGACAACACTTGGCACAATTTCTTCTGTATAGTCTATGCTAATATATTAGGACTCCAAGTATGTATAAACAAACATATGTGTGTTTCTTGAGGAAGATGAATAGGTGCTACGCCAAGTATAATATGAGTTGTTTACCAAGTCCAGTAGAGGTATCATATTGGATCAACGGCGTCTTAACACTTCCTTCGTCAGTCGTGCAGATGACCTGGAAAAAGAAGGCTAGACAAAAGGAAGAACTGGTAAATGACTTGTTCATTCAACACCTACAAATAGGGCACATGCTTTTAAAAGAGCAATGCATCATAGCATGAAAAATAGGATTCCAAAGCAAGTTATGACGTTTTATATAATATTCAAAATTACTTCTAATTTTAAAATGTTTAAGAAAAAAAGCTATCATTAGTGTAATAATAGCCTATCCATAAGTAATAGAGCTAAGGAAAATTAGAGCTTATACAGCAAAGGAAAAGAACATCAGACGAGTAAAGGGTAATACACAAAGCGCATCTTGTTCTGCACACGGTTTAAATCCTTCCTTTAAAATTTACAGGTGTACTTTCCACTAAATGACCTAGAGTTTCTTACTGAACAGGAGAGCTCAAAAGGGATCCTAGAAATCACATGGTCTAAATTGCTCTTCCAATGGCCAGGAACCTGAGGGAAGTGACCCTTGCAAGGTCACACAGATGGTTATAGGCCTGGCCAGGTAGAACCTGTGTCTCCCAACCATCAGGCCACCTTCCTTTCCCAAAGAGCTGCCCAGGTGACCATGAACTGTAACAATGAACATGTGTAGCTGAATCTTTGTAAAAATGTTATTAAGTTTCTATTACTATACATGCAATGCTGGAGCTCACTGTTTACCTCTACCTTACAGCCAAAATAAAATACTCATTAATCAATTCATTATATAGTGAACATTGGTCCTGTGAGCATGCTGATCACTATAAAATACTTAGCACCTTGTAAAGCATTTTCTCATTTCAATTTAAAAACAAGGCAAGGAGAAAAGGGACATGTAAGTAAACAGGAAGAAGGAACTCCATTTTAGAGGGTCAAGATTGTTCTTTCAGGGGCTGATATCAAGGAAGGTTAAGGAAACCCCTTATTCAGGTCCTCATGAGTTGGAGATAGTTATTTCCTGATAGGGCTCTGTTTGGAGACTGGAGATACAGCAAGAAAATCTATGAAGTTGCTAGAAGTGTATTATTTTAGGGTAGTCATTGACTATGTATGGGTGCTATTTCTTTTGTGAACCCAACTGGCCCTTGGGTCTTATCCCTTCCTGGGGACCCTCCAGTCCTGTGGAGGCAGCGCTGTCCCCTTGAACTGCATTATAACTGCAGTGCTGTCAAGCTGCAAATGGGAAGGAAAGAAAACCTTATTTATCCTGAGCAGTAACTTTTTCACAAGAAGGGGGCACTTAAACCAAGACATTTTAATGGTGAGCATCTGCTGGTCAGCTTTCAGATTTAGCATCCCGTAAAGCTGGGGAACAGAGCGCCTTCCACACTGAGAAACAGGAGTCAGAAACTAACTTTTGTCCGCCGTTCTCGGTATGTAGAGGGTGGTGTCCAAGCCGCTGTACACGCGTCGCCCTCCGTCGGTTAACACGTACTCCTTCAGTTGGCCGTTCAGGAGGAAGGTGTCACTCCAGTTCACACACACCACAGACAAATTGCTGTCCACCGAAAATGGGGCTCGGTACTGAGGCACTGTGGGGAGAAAGTTGTATGTTCTAAAAAGGGTAACCTCTTTGAAGGAGTGCAGGTGTGCACTTTAAAAAAAAAAAATATGAGCAAAATCAAACCGAACCAATCCAAACAAAAAAAAAAAAAAAAAAGAAAACCAACATTGCTAGAATCCTTCACTTTTTCCTCAGTATTACGAAACAACCAGTATCAGGGGTGAAAAGAAAACCAATGGGAACATGTGTGAAATGCTTTCTCAGCAACTTTATGCCTGCTTTAAAAAAAATCGATAGAGAGTGGTGTTTTATAAATAAAACTATTAACATACAATGGATCTGCTCACCAGCATAACCCTGGAGCTCATATTTTGTTGCATTTTCCCTCTTTTTAACAGGTAAAGTATCCTTAATACTATTAAGTACAGTAGATAGCTATTTTTCATATCAAATCAATATTTATTGCCACAAAGCCCCAAGGACTAGATGAAGTTAATATATTTTTTTCTCCAAACCAAACTGCTTAGATGGTGAATTACGTCCTTTTGGCACCCATTTATTGTTAAAGCTTTTTCTCAAACTGTTAGTTTGTTTTCTAAGATAGTTAAAAAGCCTTGCAAACAGTAATTCAAGTATAATAATTCATGGCCCTGACTAATCAATCAATAGCATAGTACATTAGTATATAATCAAGCTCAGGTGTCCTAAGTATTATATCACATATAGAAGCAACTTTGTGTGCATTTCACAGGCACATTCTCTTGATTTTTCAGTTCCTTACTAAAACAAAAAGAAAATCCTTAACTGGGGCTCACCTTTTAAATGAATAATTTTTGTGGAAACAAATGAAGGGATACCATGTCATCTTGTCAAGTCAGAAGAGATTTATTTCATGAGATCTTATTTTCTACAAAATAATCAATATATTTGTAAAAACATTAAGATTCACCTATATACCAAATTGGCTTTTAAGAAAAGAAAGGAGTGAGTAGTGAGACTAAATTGAATCTGATTCTTTTTCTTTAAAAATCAATCCATCTATTTCTGATGTTAGGAAATATAACAAAATAAGGAATAATTATGCTTTTGTAATTGTAATATTCAACCGTAAAGACACAGTTGATTGTTATCTTTCAAAATAAGATATTTTCATAAAGCCATAAGAAAAATTTTCTGCAAACACCAAAACAAGAGTTATCAAGCCCTCTTTAAATCTCAATGCTTTTCCAACATTGATTCTGCCTGATATCACAAGGAATACTCTATTGTTATTTGTCTATGACTTCTCTCCATCACCTTAGTTCAGTAGATTTTCACTTTTTCCCTATATCATAACAGCACAGATAAAGAAACAGCTTGTAACTAGCAAGAAAATAGAAAGATAGGAGTCTTATTTGTCCTGTAGGGTTTGGAGACCTTCCTGAGGAAAAAGAGTAAGCAATTAAAATAATCGAGAATAATGAGTTTACAAATCCTCCCCAAGGAAGACTGAAAAAGCTGTAAGTACCACTACGCTCCTAGCTTTTGACATACTTTATCTCATTTAATCCTCAAAATAATCCTGTAAAGATTGATTCCTAATTTTTGGGGTGAGAAAACTCAGGTTCAGAGAGGTCAAATATCTTGCTCTATGTCAGTGGCTGGTAGGAGACCAAGGAGCTGAACCTAGGCTTGCTTAAATAAGGCCCATGCTACTTTGTTATCATCGGTACACATTTGTTGAAAAGAACAGAATTTACCAATTCACCCTATGGGTGCTCTCCAGTGGTGTGCTGAAGTTGGCTCACCCCAACTGTTAAATATTCAGGAATTTTGTGAGTCATTGTTAAATCCGGCCACTACTAAAAATTAAATTATATAAACTTAAATAAATTATATTAAAACAAAGCTTATAAATACTCCAAATTCATAACTTTTTATTTGTTTCACTACATTTTACTACCGTCTGTGTGCTCGAGGTCATTTACATCCACTCTATCTGGCTGGTGGAAATATTATATAATGATACGCTACAACCCATCCCTTCCTAACTCTG
|
TGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAAAAACAACAACAAAAAAAAAACAAAAAAAAAAACTCTGACAACACTTGGCACAATTTCTTCTGTATAGTCTATGCTAATATATTAGGACTCCAAGTATGTATAAACAAACATATGTGTGTTTCTTGAGGAAGATGAATAGGTGCTACGCCAAGTATAATATGAGTTGTTTACCAAGTCCAGTAGAGGTATCATATTGGATCAACGGCGTCTTAACACTTCCTTCGTCAGTCGTGCAGATGACCTGGAAAAAGAAGGCTAGACAAAAGGAAGAACTGGTAAATGACTTGTTCATTCAACACCTACAAATAGGGCACATGCTTTTAAAAGAGCAATGCATCATAGCATGAAAAATAGGATTCCAAAGCAAGTTATGACGTTTTATATAATATTCAAAATTACTTCTAATTTTAAAATGTTTAAGAAAAAAAGCTATCATTAGTGTAATAATAGCCTATCCATAAGTAATAGAGCTAAGGAAAATTAGAGCTTATACAGCAAAGGAAAAGAACATCAGACGAGTAAAGGGTAATACACAAAGCGCATCTTGTTCTGCACACGGTTTAAATCCTTCCTTTAAAATTTACAGGTGTACTTTCCACTAAATGACCTAGAGTTTCTTACTGAACAGGAGAGCTCAAAAGGGATCCTAGAAATCACATGGTCTAAATTGCTCTTCCAATGGCCAGGAACCTGAGGGAAGTGACCCTTGCAAGGTCACACAGATGGTTATAGGCCTGGCCAGGTAGAACCTGTGTCTCCCAACCATCAGGCCACCTTCCTTTCCCAAAGAGCTGCCCAGGTGACCATGAACTGTAACAATGAACATGTGTAGCTGAATCTTTGTAAAAATGTTATTAAGTTTCTATTACTATACATGCAATGCTGGAGCTCACTGTTTACCTCTACCTTACAGCCAAAATAAAATACTCATTAATCAATTCATTATATAGTGAACATTGGTCCTGTGAGCATGCTGATCACTATAAAATACTTAGCACCTTGTAAAGCATTTTCTCATTTCAATTTAAAAACAAGGCAAGGAGAAAAGGGACATGTAAGTAAACAGGAAGAAGGAACTCCATTTTAGAGGGTCAAGATTGTTCTTTCAGGGGCTGATATCAAGGAAGGTTAAGGAAACCCCTTATTCAGGTCCTCATGAGTTGGAGATAGTTATTTCCTGATAGGGCTCTGTTTGGAGACTGGAGATACAGCAAGAAAATCTATGAAGTTGCTAGAAGTGTATTATTTTAGGGTAGTCATTGACTATGTATGGGTGCTATTTCTTTTGTGAACCCAACTGGCCCTTGGGTCTTATCCCTTCCTGGGGACCCTCCAGTCCTGTGGAGGCAGCGCTGTCCCCTTGAACTGCATTATAACTGCAGTGCTGTCAAGCTGCAAATGGGAAGGAAAGAAAACCTTATTTATCCTGAGCAGTAACTTTTTCACAAGAAGGGGGCACTTAAACCAAGACATTTTAATGGTGAGCATCTGCTGGTCAGCTTTCAGATTTAGCATCCCGTAAAGCTGGGGAACAGAGCGCCTTCCACACTGAGAAACAGGAGTCAGAAACTAACTTTTGTCCGCCGTTCTCGGTATGTAGAGGGTGGTGTCCAAGCCGCTGTACACGCGTCGCCCTCCGTCGGTTAACACGTACTCCTTCAGTTGGCCGTTCAGGAGGAAGGTGTCACTCCAGTTCACACACACCACAGACAATTGCTGTCCACCGAAAATGGGGCTCGGTACTGAGGCACTGTGGGGAGAAAGTTGTATGTTCTAAAAAGGGTAACCTCTTTGAAGGAGTGCAGGTGTGCACTTTAAAAAAAAAAAATATGAGCAAAATCAAACCGAACCAATCCAAACAAAAAAAAAAAAAAAAAAGAAAACCAACATTGCTAGAATCCTTCACTTTTTCCTCAGTATTACGAAACAACCAGTATCAGGGGTGAAAAGAAAACCAATGGGAACATGTGTGAAATGCTTTCTCAGCAACTTTATGCCTGCTTTAAAAAAAATCGATAGAGAGTGGTGTTTTATAAATAAAACTATTAACATACAATGGATCTGCTCACCAGCATAACCCTGGAGCTCATATTTTGTTGCATTTTCCCTCTTTTTAACAGGTAAAGTATCCTTAATACTATTAAGTACAGTAGATAGCTATTTTTCATATCAAATCAATATTTATTGCCACAAAGCCCCAAGGACTAGATGAAGTTAATATATTTTTTTCTCCAAACCAAACTGCTTAGATGGTGAATTACGTCCTTTTGGCACCCATTTATTGTTAAAGCTTTTTCTCAAACTGTTAGTTTGTTTTCTAAGATAGTTAAAAAGCCTTGCAAACAGTAATTCAAGTATAATAATTCATGGCCCTGACTAATCAATCAATAGCATAGTACATTAGTATATAATCAAGCTCAGGTGTCCTAAGTATTATATCACATATAGAAGCAACTTTGTGTGCATTTCACAGGCACATTCTCTTGATTTTTCAGTTCCTTACTAAAACAAAAAGAAAATCCTTAACTGGGGCTCACCTTTTAAATGAATAATTTTTGTGGAAACAAATGAAGGGATACCATGTCATCTTGTCAAGTCAGAAGAGATTTATTTCATGAGATCTTATTTTCTACAAAATAATCAATATATTTGTAAAAACATTAAGATTCACCTATATACCAAATTGGCTTTTAAGAAAAGAAAGGAGTGAGTAGTGAGACTAAATTGAATCTGATTCTTTTTCTTTAAAAATCAATCCATCTATTTCTGATGTTAGGAAATATAACAAAATAAGGAATAATTATGCTTTTGTAATTGTAATATTCAACCGTAAAGACACAGTTGATTGTTATCTTTCAAAATAAGATATTTTCATAAAGCCATAAGAAAAATTTTCTGCAAACACCAAAACAAGAGTTATCAAGCCCTCTTTAAATCTCAATGCTTTTCCAACATTGATTCTGCCTGATATCACAAGGAATACTCTATTGTTATTTGTCTATGACTTCTCTCCATCACCTTAGTTCAGTAGATTTTCACTTTTTCCCTATATCATAACAGCACAGATAAAGAAACAGCTTGTAACTAGCAAGAAAATAGAAAGATAGGAGTCTTATTTGTCCTGTAGGGTTTGGAGACCTTCCTGAGGAAAAAGAGTAAGCAATTAAAATAATCGAGAATAATGAGTTTACAAATCCTCCCCAAGGAAGACTGAAAAAGCTGTAAGTACCACTACGCTCCTAGCTTTTGACATACTTTATCTCATTTAATCCTCAAAATAATCCTGTAAAGATTGATTCCTAATTTTTGGGGTGAGAAAACTCAGGTTCAGAGAGGTCAAATATCTTGCTCTATGTCAGTGGCTGGTAGGAGACCAAGGAGCTGAACCTAGGCTTGCTTAAATAAGGCCCATGCTACTTTGTTATCATCGGTACACATTTGTTGAAAAGAACAGAATTTACCAATTCACCCTATGGGTGCTCTCCAGTGGTGTGCTGAAGTTGGCTCACCCCAACTGTTAAATATTCAGGAATTTTGTGAGTCATTGTTAAATCCGGCCACTACTAAAAATTAAATTATATAAACTTAAATAAATTATATTAAAACAAAGCTTATAAATACTCCAAATTCATAACTTTTTATTTGTTTCACTACATTTTACTACCGTCTGTGTGCTCGAGGTCATTTACATCCACTCTATCTGGCTGGTGGAAATATTATATAATGATACGCTACAACCCATCCCTTCCTAACTCTGN
|
pathogenic
| 21,820
|
Chromosome 1, position 215647525, gene USH2A (usherin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39']
|
ACACAGTTTATAGTTCTGCCTCAGTTTTTTCATCTGTAAATTTGGATAATAATAGGTCTGTTGTAAGAATTATTTGTAAAATGCTAAAATACTGCCAGGAACAAACAAGTCCTCTGTAAATGTGATCTGTTACTAACATCCTACCATGTTGTTGCTCAGACACATTAAGCTCCTTGTGTGAGACATTGGTCTTTATGAATGCGTAATTCTTGCTTTTAAAATTGGCATCATATTCAATGCCAGATAGAGTATTTTAGGTAAGATTTATAATCTGACATAATCTTTCTTGAAAGCAAACATGAAACTAGTATCCAAAGCCTTAAAATATTAAAATACTTGATGTATTAATAGCAAATTCTATTTGTCAAAATTTAATTTAAGAAGATAACCAGACATTCAAAGATCTGTTCACAAAGATTTTTTCATCATATTTATTAATGGGAAATTAAAAAAAAAACAAAATGTCCCAATTAATTTATATATGGAATATTGTATAGCCATTAAAATTGGTGGCTAAAGAGTTTTTTTAATGCCACGGGAAATGCAAATACAATAACGTCAAGTATAAAAAGCTGACTATGAAATTTTAGTTATAGTATTTCAGCCATATAGTAAAAATTACCCATAGAAAGGAGATTAAAAGAATTGATTATGCCAAAATATTAGTAGTGGTTGCCTCTGGGTTGGGGTATAATAAGCTGGACCAGCTTCCTTGGCATGTGACCTGTGCTGTTGCAAGGGCCTGTGACATAGAAGAGTCTTGGACTTAGCCTGATGCTGTACTGTTACTGTCTTGGAATTCTTAAAGATTTTTCAGCAAAGGATTCCATATTTTCATTTTCCACTGGACTCCATAAATTATGCAGTTGGTTCTGATAAGCACTTATTATTCTTAATACTTTTTGTGTTTGCCATTATTAAACAATGAAAGCATATACCTTATAAAATCTAAGTTATAGTCATATATCTCATAATGACATTTTGAGCAAGACTGCAGAAATGATGGTGGTTCCATAAGATTATAATGGAGCTGCCCTGTACCATCTCTTACATTTTTTGTTTTTTTTTGAGAAGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTACAGTGGCGTGATCTCGGCTCACTACAACCTCTGCCTCCTGGGTTAAAGTGATTCTCCTGCTTAAGCCTCCTGAGTAGCTGGGATTACAGGTATGTGTCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTGAGGTGATTCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCCTCTTATCTTTTATATCAGATTTTTTCTGTGCCTTTTCTATGTTTAGATACACAAATAACCATTGTGTTACAATTGCCTGCAGTATTCAGCACAGTCACATGCCTATGGGGCAGAGTAGGTTATAACATGTAGGTCTGTGCAAGTACATTCTATGATATTTTCACGACACTCGCCTAACGATGCATTTCTCAGAACATATTTCCATCGTTAAGCGATGCGTGACTGTATTATATAAAAATGTAAGGAAGCCCCCAATTAATTAGTTGATTGCTCTTTCCTTCACTCACTTGCCCTTTTGCTTTTCCTAATAGTGCTATGTCTCAATGCTCTCTGGACATACTAGAGATTATGCCATGTAATTTACAAAGAAAAGGAGTAGCAAAACTTCTTATAAAAATGGTCTACCAGTGTTTGTTCATTTTCTTTCTTCCCATTGATCGTTTAACTTCCCCTAAATTTATTTTTACCCTATCCCCACAAGAAAATCCTTCTTAAATTTTCCCTTGACTTCCATATTATTAAATCCAGTAGGCATTTTTCCTCAGTAGTCATCCTCATCAATGCTTCAGTAACATTCAGTGTTATTGAGCCCACTCAATCTGTTTTTAAAAGTGGCTTCTCCGAGTTTCAGGGCAAGCTTCTCCTGACCACATTCCAATCTCTCTGGCTTATGGTAGCAGCCACTTATACTCACATTCTTTTTGGGTGGTGAAACTGATCCACTCGGAAGCCGTACTGCCCACCTCGTTGTGTGCCACCACTCTCAGCTTGTATGTGGTGTAGGGCTGGAGACCCCCAAGGCTGGCTTTCTGCCCCAGCCCCGTGTACTTTGTTTCTATTTGGCTGGGAGTACAGGGGAGGGCTGAGTCAGGAGGGCAAGCCACGTGGAATTGGAGTTCATAGCTAAAATGAGAATGGATACGTAGAGTCAAGACGGGTAATGGAATTAGTTTAACTCTCTCTTTTAAAACCAGTTCTATTTTGTGAGGAGACATTTTGTTTTCACAGAGCTACAGGCTCTTTAAAATTTCCATTTGCAGGAAACTGCTCTCAGAAACACCTTATGTAATGCTATTGGAAACGAGCAGCAGATGTAACCAGAGAAATGATAAGAGAAGTCACCATCTACACACACATTGCTGTTTACCCAGCAACTAGTGATCCTTTTTGGTAGAGATAAGACATTTCCCTCTTTTAAGAGGAGAGACATAAATGGTTCTTCTCTTTTTAGAGTAAATAATTTTTTTTCTAAATGATTTTGAGTCAAGTGTCTTCTTTTTCCTTTCAAACAGTGGTTTATGACAATATTTTAAATTAGATCAGGGCAATTCTGATTTAACTGTGGAGGTATCTTATGTTCCAGTGAAGGCTGGTAGAAGGAATGCTTCCAGATAACCATTAGGAAGAGCATATTGAATACGAACACATTGCATTGTCTTTTTAATGTAAAACATTTCGTTGTTCTCCTTTCTATCATTAGTTGCTTTTATGATTTAAATACATCGCAGGTAACATTACCACTCAAATCAATTTGTTTGTCTACTTTGCTATAGATATCTGTTCAATAAGCAAGTCCTCCCTGGGGAGTGCCAGGTAGCTATACAGGTTTGTAGCCTAGGTGCAGAGTAGGCTATACCATGAGTTCATATGTCTGTACACATGCCTTGTTAGTTTCTTCATCCTTCTGCCTGACCCATTACCTGTGAATGACACCATTGGGGAACATGGGGGGACTCCACCGGAAGGAGGCCGTCCTTGAGGCCAGCGTCCCGATTTGTGGAGAGGACAGTCCTGAGGGTGGGGCAGGATGGGTTCTCAGTTCAGCTGTCGGTCCTTTGCTGCAACAGTTGAAGCAGGTGCAGGCCTCTACTCCAATAGAGTAGTTAGTGAAGGCTTGAAGGCCATGGAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCATGACATTTATCCTCAAAAAATTACCAACTCAGTTAGAGAGGTATGACAAATAGGTGAAAAATCTGATAATGTAACCGTTAAATAGACGTTTGAGGTAGCAGGATGGAAATCACAAGGCATAATATTATCGATTATCTATTACCTTAGAAAGGTATTAGAAAATGGCACGGAACACACAAAGTGTTGATCAAAGTCTATGACCCTCAGAGTGATGTCTTTTCAAAAAACAAAATCTGCCTTCCAATTATATGTCTAGTCAGCATTCACCAAGGTCCATATTCTGCCATGGTTACTTGCATGCAATTTCTCAGTCAAAAAATCTTTTCAGATCTACATTAAAATCAGGTATAAGTATTGGAGGGCTTGAAAGTCTATCTCTTCCTCTGAGGGTGTTGGTTTTTACAAAATATCATAGTCTTCTCTCAATCATCTTTGTAGGATTATAAAGTTTTGGTTTATTTTGAGCAAATTTTTAACCTCATTGTGGTTTTAATAAGTACTCTTCGGAACAAGAGTTCAGAAACTGAAATTAATGTTCATGTTGACATAAAGAACATATGATTAAGAAGAGCTGTTAAAAAATGCATACAATGCCCTCCAAATATAAATTATTTTAGTTTATTATCATTTTATAAGCATGGATAATCAAGGGTTGATTGTATTTACATCAT
|
ACACAGTTTATAGTTCTGCCTCAGTTTTTTCATCTGTAAATTTGGATAATAATAGGTCTGTTGTAAGAATTATTTGTAAAATGCTAAAATACTGCCAGGAACAAACAAGTCCTCTGTAAATGTGATCTGTTACTAACATCCTACCATGTTGTTGCTCAGACACATTAAGCTCCTTGTGTGAGACATTGGTCTTTATGAATGCGTAATTCTTGCTTTTAAAATTGGCATCATATTCAATGCCAGATAGAGTATTTTAGGTAAGATTTATAATCTGACATAATCTTTCTTGAAAGCAAACATGAAACTAGTATCCAAAGCCTTAAAATATTAAAATACTTGATGTATTAATAGCAAATTCTATTTGTCAAAATTTAATTTAAGAAGATAACCAGACATTCAAAGATCTGTTCACAAAGATTTTTTCATCATATTTATTAATGGGAAATTAAAAAAAAAACAAAATGTCCCAATTAATTTATATATGGAATATTGTATAGCCATTAAAATTGGTGGCTAAAGAGTTTTTTTAATGCCACGGGAAATGCAAATACAATAACGTCAAGTATAAAAAGCTGACTATGAAATTTTAGTTATAGTATTTCAGCCATATAGTAAAAATTACCCATAGAAAGGAGATTAAAAGAATTGATTATGCCAAAATATTAGTAGTGGTTGCCTCTGGGTTGGGGTATAATAAGCTGGACCAGCTTCCTTGGCATGTGACCTGTGCTGTTGCAAGGGCCTGTGACATAGAAGAGTCTTGGACTTAGCCTGATGCTGTACTGTTACTGTCTTGGAATTCTTAAAGATTTTTCAGCAAAGGATTCCATATTTTCATTTTCCACTGGACTCCATAAATTATGCAGTTGGTTCTGATAAGCACTTATTATTCTTAATACTTTTTGTGTTTGCCATTATTAAACAATGAAAGCATATACCTTATAAAATCTAAGTTATAGTCATATATCTCATAATGACATTTTGAGCAAGACTGCAGAAATGATGGTGGTTCCATAAGATTATAATGGAGCTGCCCTGTACCATCTCTTACATTTTTTGTTTTTTTTTGAGAAGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTACAGTGGCGTGATCTCGGCTCACTACAACCTCTGCCTCCTGGGTTAAAGTGATTCTCCTGCTTAAGCCTCCTGAGTAGCTGGGATTACAGGTATGTGTCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTGAGGTGATTCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCCTCTTATCTTTTATATCAGATTTTTTCTGTGCCTTTTCTATGTTTAGATACACAAATAACCATTGTGTTACAATTGCCTGCAGTATTCAGCACAGTCACATGCCTATGGGGCAGAGTAGGTTATAACATGTAGGTCTGTGCAAGTACATTCTATGATATTTTCACGACACTCGCCTAACGATGCATTTCTCAGAACATATTTCCATCGTTAAGCGATGCGTGACTGTATTATATAAAAATGTAAGGAAGCCCCCAATTAATTAGTTGATTGCTCTTTCCTTCACTCACTTGCCCTTTTGCTTTTCCTAATAGTGCTATGTCTCAATGCTCTCTGGACATACTAGAGATTATGCCATGTAATTTACAAAGAAAAGGAGTAGCAAAACTTCTTATAAAAATGGTCTACCAGTGTTTGTTCATTTTCTTTCTTCCCATTGATCGTTTAACTTCCCCTAAATTTATTTTTACCCTATCCCCACAAGAAAATCCTTCTTAAATTTTCCCTTGACTTCCATATTATTAAATCCAGTAGGCATTTTTCCTCAGTAGTCATCCTCATCAATGCTTCAGTAACATTCAGTGTTATTGAGCCCACTCAATCTGTTTTTAAAAGTGGCTTCTCCGAGTTTCAGGGCAAGCTTCTCCTGACCACATTCCAATCTCTCTGGCTTATGGTAGCAGCCACTTATACTCACATTCTTTTGGGTGGTGAAACTGATCCACTCGGAAGCCGTACTGCCCACCTCGTTGTGTGCCACCACTCTCAGCTTGTATGTGGTGTAGGGCTGGAGACCCCCAAGGCTGGCTTTCTGCCCCAGCCCCGTGTACTTTGTTTCTATTTGGCTGGGAGTACAGGGGAGGGCTGAGTCAGGAGGGCAAGCCACGTGGAATTGGAGTTCATAGCTAAAATGAGAATGGATACGTAGAGTCAAGACGGGTAATGGAATTAGTTTAACTCTCTCTTTTAAAACCAGTTCTATTTTGTGAGGAGACATTTTGTTTTCACAGAGCTACAGGCTCTTTAAAATTTCCATTTGCAGGAAACTGCTCTCAGAAACACCTTATGTAATGCTATTGGAAACGAGCAGCAGATGTAACCAGAGAAATGATAAGAGAAGTCACCATCTACACACACATTGCTGTTTACCCAGCAACTAGTGATCCTTTTTGGTAGAGATAAGACATTTCCCTCTTTTAAGAGGAGAGACATAAATGGTTCTTCTCTTTTTAGAGTAAATAATTTTTTTTCTAAATGATTTTGAGTCAAGTGTCTTCTTTTTCCTTTCAAACAGTGGTTTATGACAATATTTTAAATTAGATCAGGGCAATTCTGATTTAACTGTGGAGGTATCTTATGTTCCAGTGAAGGCTGGTAGAAGGAATGCTTCCAGATAACCATTAGGAAGAGCATATTGAATACGAACACATTGCATTGTCTTTTTAATGTAAAACATTTCGTTGTTCTCCTTTCTATCATTAGTTGCTTTTATGATTTAAATACATCGCAGGTAACATTACCACTCAAATCAATTTGTTTGTCTACTTTGCTATAGATATCTGTTCAATAAGCAAGTCCTCCCTGGGGAGTGCCAGGTAGCTATACAGGTTTGTAGCCTAGGTGCAGAGTAGGCTATACCATGAGTTCATATGTCTGTACACATGCCTTGTTAGTTTCTTCATCCTTCTGCCTGACCCATTACCTGTGAATGACACCATTGGGGAACATGGGGGGACTCCACCGGAAGGAGGCCGTCCTTGAGGCCAGCGTCCCGATTTGTGGAGAGGACAGTCCTGAGGGTGGGGCAGGATGGGTTCTCAGTTCAGCTGTCGGTCCTTTGCTGCAACAGTTGAAGCAGGTGCAGGCCTCTACTCCAATAGAGTAGTTAGTGAAGGCTTGAAGGCCATGGAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCATGACATTTATCCTCAAAAAATTACCAACTCAGTTAGAGAGGTATGACAAATAGGTGAAAAATCTGATAATGTAACCGTTAAATAGACGTTTGAGGTAGCAGGATGGAAATCACAAGGCATAATATTATCGATTATCTATTACCTTAGAAAGGTATTAGAAAATGGCACGGAACACACAAAGTGTTGATCAAAGTCTATGACCCTCAGAGTGATGTCTTTTCAAAAAACAAAATCTGCCTTCCAATTATATGTCTAGTCAGCATTCACCAAGGTCCATATTCTGCCATGGTTACTTGCATGCAATTTCTCAGTCAAAAAATCTTTTCAGATCTACATTAAAATCAGGTATAAGTATTGGAGGGCTTGAAAGTCTATCTCTTCCTCTGAGGGTGTTGGTTTTTACAAAATATCATAGTCTTCTCTCAATCATCTTTGTAGGATTATAAAGTTTTGGTTTATTTTGAGCAAATTTTTAACCTCATTGTGGTTTTAATAAGTACTCTTCGGAACAAGAGTTCAGAAACTGAAATTAATGTTCATGTTGACATAAAGAACATATGATTAAGAAGAGCTGTTAAAAAATGCATACAATGCCCTCCAAATATAAATTATTTTAGTTTATTATCATTTTATAAGCATGGATAATCAAGGGTTGATTGTATTTACATCATN
|
pathogenic
| 21,828
|
Determine if the mutation at chromosome 1, position 215648655 in gene USH2A (usherin) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Retinitis_pigmentosa_39']
|
ACCTCTGCCTCCTGGGTTAAAGTGATTCTCCTGCTTAAGCCTCCTGAGTAGCTGGGATTACAGGTATGTGTCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTGAGGTGATTCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCCTCTTATCTTTTATATCAGATTTTTTCTGTGCCTTTTCTATGTTTAGATACACAAATAACCATTGTGTTACAATTGCCTGCAGTATTCAGCACAGTCACATGCCTATGGGGCAGAGTAGGTTATAACATGTAGGTCTGTGCAAGTACATTCTATGATATTTTCACGACACTCGCCTAACGATGCATTTCTCAGAACATATTTCCATCGTTAAGCGATGCGTGACTGTATTATATAAAAATGTAAGGAAGCCCCCAATTAATTAGTTGATTGCTCTTTCCTTCACTCACTTGCCCTTTTGCTTTTCCTAATAGTGCTATGTCTCAATGCTCTCTGGACATACTAGAGATTATGCCATGTAATTTACAAAGAAAAGGAGTAGCAAAACTTCTTATAAAAATGGTCTACCAGTGTTTGTTCATTTTCTTTCTTCCCATTGATCGTTTAACTTCCCCTAAATTTATTTTTACCCTATCCCCACAAGAAAATCCTTCTTAAATTTTCCCTTGACTTCCATATTATTAAATCCAGTAGGCATTTTTCCTCAGTAGTCATCCTCATCAATGCTTCAGTAACATTCAGTGTTATTGAGCCCACTCAATCTGTTTTTAAAAGTGGCTTCTCCGAGTTTCAGGGCAAGCTTCTCCTGACCACATTCCAATCTCTCTGGCTTATGGTAGCAGCCACTTATACTCACATTCTTTTTGGGTGGTGAAACTGATCCACTCGGAAGCCGTACTGCCCACCTCGTTGTGTGCCACCACTCTCAGCTTGTATGTGGTGTAGGGCTGGAGACCCCCAAGGCTGGCTTTCTGCCCCAGCCCCGTGTACTTTGTTTCTATTTGGCTGGGAGTACAGGGGAGGGCTGAGTCAGGAGGGCAAGCCACGTGGAATTGGAGTTCATAGCTAAAATGAGAATGGATACGTAGAGTCAAGACGGGTAATGGAATTAGTTTAACTCTCTCTTTTAAAACCAGTTCTATTTTGTGAGGAGACATTTTGTTTTCACAGAGCTACAGGCTCTTTAAAATTTCCATTTGCAGGAAACTGCTCTCAGAAACACCTTATGTAATGCTATTGGAAACGAGCAGCAGATGTAACCAGAGAAATGATAAGAGAAGTCACCATCTACACACACATTGCTGTTTACCCAGCAACTAGTGATCCTTTTTGGTAGAGATAAGACATTTCCCTCTTTTAAGAGGAGAGACATAAATGGTTCTTCTCTTTTTAGAGTAAATAATTTTTTTTCTAAATGATTTTGAGTCAAGTGTCTTCTTTTTCCTTTCAAACAGTGGTTTATGACAATATTTTAAATTAGATCAGGGCAATTCTGATTTAACTGTGGAGGTATCTTATGTTCCAGTGAAGGCTGGTAGAAGGAATGCTTCCAGATAACCATTAGGAAGAGCATATTGAATACGAACACATTGCATTGTCTTTTTAATGTAAAACATTTCGTTGTTCTCCTTTCTATCATTAGTTGCTTTTATGATTTAAATACATCGCAGGTAACATTACCACTCAAATCAATTTGTTTGTCTACTTTGCTATAGATATCTGTTCAATAAGCAAGTCCTCCCTGGGGAGTGCCAGGTAGCTATACAGGTTTGTAGCCTAGGTGCAGAGTAGGCTATACCATGAGTTCATATGTCTGTACACATGCCTTGTTAGTTTCTTCATCCTTCTGCCTGACCCATTACCTGTGAATGACACCATTGGGGAACATGGGGGGACTCCACCGGAAGGAGGCCGTCCTTGAGGCCAGCGTCCCGATTTGTGGAGAGGACAGTCCTGAGGGTGGGGCAGGATGGGTTCTCAGTTCAGCTGTCGGTCCTTTGCTGCAACAGTTGAAGCAGGTGCAGGCCTCTACTCCAATAGAGTAGTTAGTGAAGGCTTGAAGGCCATGGAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCATGACATTTATCCTCAAAAAATTACCAACTCAGTTAGAGAGGTATGACAAATAGGTGAAAAATCTGATAATGTAACCGTTAAATAGACGTTTGAGGTAGCAGGATGGAAATCACAAGGCATAATATTATCGATTATCTATTACCTTAGAAAGGTATTAGAAAATGGCACGGAACACACAAAGTGTTGATCAAAGTCTATGACCCTCAGAGTGATGTCTTTTCAAAAAACAAAATCTGCCTTCCAATTATATGTCTAGTCAGCATTCACCAAGGTCCATATTCTGCCATGGTTACTTGCATGCAATTTCTCAGTCAAAAAATCTTTTCAGATCTACATTAAAATCAGGTATAAGTATTGGAGGGCTTGAAAGTCTATCTCTTCCTCTGAGGGTGTTGGTTTTTACAAAATATCATAGTCTTCTCTCAATCATCTTTGTAGGATTATAAAGTTTTGGTTTATTTTGAGCAAATTTTTAACCTCATTGTGGTTTTAATAAGTACTCTTCGGAACAAGAGTTCAGAAACTGAAATTAATGTTCATGTTGACATAAAGAACATATGATTAAGAAGAGCTGTTAAAAAATGCATACAATGCCCTCCAAATATAAATTATTTTAGTTTATTATCATTTTATAAGCATGGATAATCAAGGGTTGATTGTATTTACATCATCTATATTTATTGAGTACGAAGCCCTATAGAAAATATGCTAATATTCCTTTAACATTCAATCCAAGCCTCCCTGTATGTAAGTTATCTGTTGAAATTGTGTTTCAATACCTGACACTCTGGTCTCAGAGGAATTCTCCACACTTGCCCAAATTGTTCCCTAAATTGGCCTAAATAATGCATAGTGTAATACCAGGATCTGCACAATCTCTATACAATGTTTGTGTGAACAAAGTATTATAATCTCCACTTATTCATGAGAAACTTGAGAGTGACACAAGCTATACCACAGAGACAAGAGTCTTCATCGTGCTGGCTGCTGGTATCTTCATTTAAATAATGCAGGAACTGGTCTAGTTGATTCTTAGCATCGCTTCCGGGAAGTGGCTTGGCTAACGCACAATGTGAAAGATGATTTCCCTGAGCAATCTCTCCTGTCTCCCAGTGTGCCTCAAACGTGTTAACGAACAAACAGTGGAGCTAGGGCTATGCTGATGGAGCTGCTCTGCTCTCTCTTCTAAAGGGTTAGAACTTTCTTGAAATCACCAGAGGAATGAGAGTTTTCCATGTATTATTAGAGATTTGTGCATGTCAAAATAGAGATTCCAAGGATATTCTTTGCTCTATTTTGTTTTCATACTAACATTTACACCACCAATAATTACCATTTGCCAACTTCTTACTATGTGCCACCACTCTAAGTGGTTGATCTGTTTTCTAATTAAATTAAATTAAATTAAATTAGTGTGATTGCCTTTAAAGTCTTAGTTTCTTACGTTTGTGGAGTCTTTAATACCACCTTTAGCATCCCTCTCCCTAAGAGTTTACATACTTTCTGTATGTTTCCTCAGGGTTCACTTTTTCTTCTCTGAGGGATATTTGTGCTACTAAGTTCACCGTAGAGCAACTGAGAACAGAAGGATAAGAAAGATGGAGGGAAAAACAAAAACATAAAAACAAAGGTTTCATAGTAATGATTTTTAAAAGTCAACCAGTCCTGGATTTTTAGCTCTGCTGCTCACCACTGTCTCAGCCCCATGGGCGCTGCTGGAGAACAGCCTGTAGAGACTGACGATCCCGTTGGGCTTCCCAGGGGCACTGATGTTGACCACTGCTTGGGTAGAAGAGATCAC
|
ACCTCTGCCTCCTGGGTTAAAGTGATTCTCCTGCTTAAGCCTCCTGAGTAGCTGGGATTACAGGTATGTGTCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTGAGGTGATTCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCCTCTTATCTTTTATATCAGATTTTTTCTGTGCCTTTTCTATGTTTAGATACACAAATAACCATTGTGTTACAATTGCCTGCAGTATTCAGCACAGTCACATGCCTATGGGGCAGAGTAGGTTATAACATGTAGGTCTGTGCAAGTACATTCTATGATATTTTCACGACACTCGCCTAACGATGCATTTCTCAGAACATATTTCCATCGTTAAGCGATGCGTGACTGTATTATATAAAAATGTAAGGAAGCCCCCAATTAATTAGTTGATTGCTCTTTCCTTCACTCACTTGCCCTTTTGCTTTTCCTAATAGTGCTATGTCTCAATGCTCTCTGGACATACTAGAGATTATGCCATGTAATTTACAAAGAAAAGGAGTAGCAAAACTTCTTATAAAAATGGTCTACCAGTGTTTGTTCATTTTCTTTCTTCCCATTGATCGTTTAACTTCCCCTAAATTTATTTTTACCCTATCCCCACAAGAAAATCCTTCTTAAATTTTCCCTTGACTTCCATATTATTAAATCCAGTAGGCATTTTTCCTCAGTAGTCATCCTCATCAATGCTTCAGTAACATTCAGTGTTATTGAGCCCACTCAATCTGTTTTTAAAAGTGGCTTCTCCGAGTTTCAGGGCAAGCTTCTCCTGACCACATTCCAATCTCTCTGGCTTATGGTAGCAGCCACTTATACTCACATTCTTTTTGGGTGGTGAAACTGATCCACTCGGAAGCCGTACTGCCCACCTCGTTGTGTGCCACCACTCTCAGCTTGTATGTGGTGTAGGGCTGGAGACCCCCAAGGCTGGCTTTCTGCCCCAGCCCCGTGTACTTTGTTTCTATTTGGCTGGGAGTACAGGGGAGGGCTGAGTCAGGAGGGCAAGCCACGTGGAATTGGAGTTCATAGCTAAAATGAGAATGGATACGTAGAGTCAAGACGGGTAATGGAATTAGTTTAACTCTCTCTTTTAAAACCAGTTCTATTTTGTGAGGAGACATTTTGTTTTCACAGAGCTACAGGCTCTTTAAAATTTCCATTTGCAGGAAACTGCTCTCAGAAACACCTTATGTAATGCTATTGGAAACGAGCAGCAGATGTAACCAGAGAAATGATAAGAGAAGTCACCATCTACACACACATTGCTGTTTACCCAGCAACTAGTGATCCTTTTTGGTAGAGATAAGACATTTCCCTCTTTTAAGAGGAGAGACATAAATGGTTCTTCTCTTTTTAGAGTAAATAATTTTTTTTCTAAATGATTTTGAGTCAAGTGTCTTCTTTTTCCTTTCAAACAGTGGTTTATGACAATATTTTAAATTAGATCAGGGCAATTCTGATTTAACTGTGGAGGTATCTTATGTTCCAGTGAAGGCTGGTAGAAGGAATGCTTCCAGATAACCATTAGGAAGAGCATATTGAATACGAACACATTGCATTGTCTTTTTAATGTAAAACATTTCGTTGTTCTCCTTTCTATCATTAGTTGCTTTTATGATTTAAATACATCGCAGGTAACATTACCACTCAAATCAATTTGTTTGTCTACTTTGCTATAGATATCTGTTCAATAAGCAAGTCCTCCCTGGGGAGTGCCAGGTAGCTATACAGGTTTGTAGCCTAGGTGCAGAGTAGGCTATACCATGAGTTCATATGTCTGTACACATGCCTTGTTAGTTTCTTCATCCTTCTGCCTGACCCATTACCTGTGAATGACACCATTGGGGAACATGGGGGGACTCCACCGGAAGGAGGCCGTCCTTGAGGCCAGCGTCCCGATTTGTGGAGAGGACAGTCCTGAGGGTGGGGCAGGATGGGTTCTCAGTTCAGCTGTCAGTTGAAGCAGGTGCAGGCCTCTACTCCAATAGAGTAGTTAGTGAAGGCTTGAAGGCCATGGAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCATGACATTTATCCTCAAAAAATTACCAACTCAGTTAGAGAGGTATGACAAATAGGTGAAAAATCTGATAATGTAACCGTTAAATAGACGTTTGAGGTAGCAGGATGGAAATCACAAGGCATAATATTATCGATTATCTATTACCTTAGAAAGGTATTAGAAAATGGCACGGAACACACAAAGTGTTGATCAAAGTCTATGACCCTCAGAGTGATGTCTTTTCAAAAAACAAAATCTGCCTTCCAATTATATGTCTAGTCAGCATTCACCAAGGTCCATATTCTGCCATGGTTACTTGCATGCAATTTCTCAGTCAAAAAATCTTTTCAGATCTACATTAAAATCAGGTATAAGTATTGGAGGGCTTGAAAGTCTATCTCTTCCTCTGAGGGTGTTGGTTTTTACAAAATATCATAGTCTTCTCTCAATCATCTTTGTAGGATTATAAAGTTTTGGTTTATTTTGAGCAAATTTTTAACCTCATTGTGGTTTTAATAAGTACTCTTCGGAACAAGAGTTCAGAAACTGAAATTAATGTTCATGTTGACATAAAGAACATATGATTAAGAAGAGCTGTTAAAAAATGCATACAATGCCCTCCAAATATAAATTATTTTAGTTTATTATCATTTTATAAGCATGGATAATCAAGGGTTGATTGTATTTACATCATCTATATTTATTGAGTACGAAGCCCTATAGAAAATATGCTAATATTCCTTTAACATTCAATCCAAGCCTCCCTGTATGTAAGTTATCTGTTGAAATTGTGTTTCAATACCTGACACTCTGGTCTCAGAGGAATTCTCCACACTTGCCCAAATTGTTCCCTAAATTGGCCTAAATAATGCATAGTGTAATACCAGGATCTGCACAATCTCTATACAATGTTTGTGTGAACAAAGTATTATAATCTCCACTTATTCATGAGAAACTTGAGAGTGACACAAGCTATACCACAGAGACAAGAGTCTTCATCGTGCTGGCTGCTGGTATCTTCATTTAAATAATGCAGGAACTGGTCTAGTTGATTCTTAGCATCGCTTCCGGGAAGTGGCTTGGCTAACGCACAATGTGAAAGATGATTTCCCTGAGCAATCTCTCCTGTCTCCCAGTGTGCCTCAAACGTGTTAACGAACAAACAGTGGAGCTAGGGCTATGCTGATGGAGCTGCTCTGCTCTCTCTTCTAAAGGGTTAGAACTTTCTTGAAATCACCAGAGGAATGAGAGTTTTCCATGTATTATTAGAGATTTGTGCATGTCAAAATAGAGATTCCAAGGATATTCTTTGCTCTATTTTGTTTTCATACTAACATTTACACCACCAATAATTACCATTTGCCAACTTCTTACTATGTGCCACCACTCTAAGTGGTTGATCTGTTTTCTAATTAAATTAAATTAAATTAAATTAGTGTGATTGCCTTTAAAGTCTTAGTTTCTTACGTTTGTGGAGTCTTTAATACCACCTTTAGCATCCCTCTCCCTAAGAGTTTACATACTTTCTGTATGTTTCCTCAGGGTTCACTTTTTCTTCTCTGAGGGATATTTGTGCTACTAAGTTCACCGTAGAGCAACTGAGAACAGAAGGATAAGAAAGATGGAGGGAAAAACAAAAACATAAAAACAAAGGTTTCATAGTAATGATTTTTAAAAGTCAACCAGTCCTGGATTTTTAGCTCTGCTGCTCACCACTGTCTCAGCCCCATGGGCGCTGCTGGAGAACAGCCTGTAGAGACTGACGATCCCGTTGGGCTTCCCAGGGGCACTGATGTTGACCACTGCTTGGGTAGAAGAGATCACNNNNNNNNNNNNNNNN
|
pathogenic
| 21,849
|
Evaluate if the mutation on chromosome 1 at position 215648706 in USH2A (usherin) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A']
|
CTGGGATTACAGGTATGTGTCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTGAGGTGATTCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCCTCTTATCTTTTATATCAGATTTTTTCTGTGCCTTTTCTATGTTTAGATACACAAATAACCATTGTGTTACAATTGCCTGCAGTATTCAGCACAGTCACATGCCTATGGGGCAGAGTAGGTTATAACATGTAGGTCTGTGCAAGTACATTCTATGATATTTTCACGACACTCGCCTAACGATGCATTTCTCAGAACATATTTCCATCGTTAAGCGATGCGTGACTGTATTATATAAAAATGTAAGGAAGCCCCCAATTAATTAGTTGATTGCTCTTTCCTTCACTCACTTGCCCTTTTGCTTTTCCTAATAGTGCTATGTCTCAATGCTCTCTGGACATACTAGAGATTATGCCATGTAATTTACAAAGAAAAGGAGTAGCAAAACTTCTTATAAAAATGGTCTACCAGTGTTTGTTCATTTTCTTTCTTCCCATTGATCGTTTAACTTCCCCTAAATTTATTTTTACCCTATCCCCACAAGAAAATCCTTCTTAAATTTTCCCTTGACTTCCATATTATTAAATCCAGTAGGCATTTTTCCTCAGTAGTCATCCTCATCAATGCTTCAGTAACATTCAGTGTTATTGAGCCCACTCAATCTGTTTTTAAAAGTGGCTTCTCCGAGTTTCAGGGCAAGCTTCTCCTGACCACATTCCAATCTCTCTGGCTTATGGTAGCAGCCACTTATACTCACATTCTTTTTGGGTGGTGAAACTGATCCACTCGGAAGCCGTACTGCCCACCTCGTTGTGTGCCACCACTCTCAGCTTGTATGTGGTGTAGGGCTGGAGACCCCCAAGGCTGGCTTTCTGCCCCAGCCCCGTGTACTTTGTTTCTATTTGGCTGGGAGTACAGGGGAGGGCTGAGTCAGGAGGGCAAGCCACGTGGAATTGGAGTTCATAGCTAAAATGAGAATGGATACGTAGAGTCAAGACGGGTAATGGAATTAGTTTAACTCTCTCTTTTAAAACCAGTTCTATTTTGTGAGGAGACATTTTGTTTTCACAGAGCTACAGGCTCTTTAAAATTTCCATTTGCAGGAAACTGCTCTCAGAAACACCTTATGTAATGCTATTGGAAACGAGCAGCAGATGTAACCAGAGAAATGATAAGAGAAGTCACCATCTACACACACATTGCTGTTTACCCAGCAACTAGTGATCCTTTTTGGTAGAGATAAGACATTTCCCTCTTTTAAGAGGAGAGACATAAATGGTTCTTCTCTTTTTAGAGTAAATAATTTTTTTTCTAAATGATTTTGAGTCAAGTGTCTTCTTTTTCCTTTCAAACAGTGGTTTATGACAATATTTTAAATTAGATCAGGGCAATTCTGATTTAACTGTGGAGGTATCTTATGTTCCAGTGAAGGCTGGTAGAAGGAATGCTTCCAGATAACCATTAGGAAGAGCATATTGAATACGAACACATTGCATTGTCTTTTTAATGTAAAACATTTCGTTGTTCTCCTTTCTATCATTAGTTGCTTTTATGATTTAAATACATCGCAGGTAACATTACCACTCAAATCAATTTGTTTGTCTACTTTGCTATAGATATCTGTTCAATAAGCAAGTCCTCCCTGGGGAGTGCCAGGTAGCTATACAGGTTTGTAGCCTAGGTGCAGAGTAGGCTATACCATGAGTTCATATGTCTGTACACATGCCTTGTTAGTTTCTTCATCCTTCTGCCTGACCCATTACCTGTGAATGACACCATTGGGGAACATGGGGGGACTCCACCGGAAGGAGGCCGTCCTTGAGGCCAGCGTCCCGATTTGTGGAGAGGACAGTCCTGAGGGTGGGGCAGGATGGGTTCTCAGTTCAGCTGTCGGTCCTTTGCTGCAACAGTTGAAGCAGGTGCAGGCCTCTACTCCAATAGAGTAGTTAGTGAAGGCTTGAAGGCCATGGAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCATGACATTTATCCTCAAAAAATTACCAACTCAGTTAGAGAGGTATGACAAATAGGTGAAAAATCTGATAATGTAACCGTTAAATAGACGTTTGAGGTAGCAGGATGGAAATCACAAGGCATAATATTATCGATTATCTATTACCTTAGAAAGGTATTAGAAAATGGCACGGAACACACAAAGTGTTGATCAAAGTCTATGACCCTCAGAGTGATGTCTTTTCAAAAAACAAAATCTGCCTTCCAATTATATGTCTAGTCAGCATTCACCAAGGTCCATATTCTGCCATGGTTACTTGCATGCAATTTCTCAGTCAAAAAATCTTTTCAGATCTACATTAAAATCAGGTATAAGTATTGGAGGGCTTGAAAGTCTATCTCTTCCTCTGAGGGTGTTGGTTTTTACAAAATATCATAGTCTTCTCTCAATCATCTTTGTAGGATTATAAAGTTTTGGTTTATTTTGAGCAAATTTTTAACCTCATTGTGGTTTTAATAAGTACTCTTCGGAACAAGAGTTCAGAAACTGAAATTAATGTTCATGTTGACATAAAGAACATATGATTAAGAAGAGCTGTTAAAAAATGCATACAATGCCCTCCAAATATAAATTATTTTAGTTTATTATCATTTTATAAGCATGGATAATCAAGGGTTGATTGTATTTACATCATCTATATTTATTGAGTACGAAGCCCTATAGAAAATATGCTAATATTCCTTTAACATTCAATCCAAGCCTCCCTGTATGTAAGTTATCTGTTGAAATTGTGTTTCAATACCTGACACTCTGGTCTCAGAGGAATTCTCCACACTTGCCCAAATTGTTCCCTAAATTGGCCTAAATAATGCATAGTGTAATACCAGGATCTGCACAATCTCTATACAATGTTTGTGTGAACAAAGTATTATAATCTCCACTTATTCATGAGAAACTTGAGAGTGACACAAGCTATACCACAGAGACAAGAGTCTTCATCGTGCTGGCTGCTGGTATCTTCATTTAAATAATGCAGGAACTGGTCTAGTTGATTCTTAGCATCGCTTCCGGGAAGTGGCTTGGCTAACGCACAATGTGAAAGATGATTTCCCTGAGCAATCTCTCCTGTCTCCCAGTGTGCCTCAAACGTGTTAACGAACAAACAGTGGAGCTAGGGCTATGCTGATGGAGCTGCTCTGCTCTCTCTTCTAAAGGGTTAGAACTTTCTTGAAATCACCAGAGGAATGAGAGTTTTCCATGTATTATTAGAGATTTGTGCATGTCAAAATAGAGATTCCAAGGATATTCTTTGCTCTATTTTGTTTTCATACTAACATTTACACCACCAATAATTACCATTTGCCAACTTCTTACTATGTGCCACCACTCTAAGTGGTTGATCTGTTTTCTAATTAAATTAAATTAAATTAAATTAGTGTGATTGCCTTTAAAGTCTTAGTTTCTTACGTTTGTGGAGTCTTTAATACCACCTTTAGCATCCCTCTCCCTAAGAGTTTACATACTTTCTGTATGTTTCCTCAGGGTTCACTTTTTCTTCTCTGAGGGATATTTGTGCTACTAAGTTCACCGTAGAGCAACTGAGAACAGAAGGATAAGAAAGATGGAGGGAAAAACAAAAACATAAAAACAAAGGTTTCATAGTAATGATTTTTAAAAGTCAACCAGTCCTGGATTTTTAGCTCTGCTGCTCACCACTGTCTCAGCCCCATGGGCGCTGCTGGAGAACAGCCTGTAGAGACTGACGATCCCGTTGGGCTTCCCAGGGGCACTGATGTTGACCACTGCTTGGGTAGAAGAGATCACATGGAACGTGGGGGCTCTGAGACCTTCTGGTGGGGCTGGCCCGGTTCTGCA
|
CTGGGATTACAGGTATGTGTCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTGAGGTGATTCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCCTCTTATCTTTTATATCAGATTTTTTCTGTGCCTTTTCTATGTTTAGATACACAAATAACCATTGTGTTACAATTGCCTGCAGTATTCAGCACAGTCACATGCCTATGGGGCAGAGTAGGTTATAACATGTAGGTCTGTGCAAGTACATTCTATGATATTTTCACGACACTCGCCTAACGATGCATTTCTCAGAACATATTTCCATCGTTAAGCGATGCGTGACTGTATTATATAAAAATGTAAGGAAGCCCCCAATTAATTAGTTGATTGCTCTTTCCTTCACTCACTTGCCCTTTTGCTTTTCCTAATAGTGCTATGTCTCAATGCTCTCTGGACATACTAGAGATTATGCCATGTAATTTACAAAGAAAAGGAGTAGCAAAACTTCTTATAAAAATGGTCTACCAGTGTTTGTTCATTTTCTTTCTTCCCATTGATCGTTTAACTTCCCCTAAATTTATTTTTACCCTATCCCCACAAGAAAATCCTTCTTAAATTTTCCCTTGACTTCCATATTATTAAATCCAGTAGGCATTTTTCCTCAGTAGTCATCCTCATCAATGCTTCAGTAACATTCAGTGTTATTGAGCCCACTCAATCTGTTTTTAAAAGTGGCTTCTCCGAGTTTCAGGGCAAGCTTCTCCTGACCACATTCCAATCTCTCTGGCTTATGGTAGCAGCCACTTATACTCACATTCTTTTTGGGTGGTGAAACTGATCCACTCGGAAGCCGTACTGCCCACCTCGTTGTGTGCCACCACTCTCAGCTTGTATGTGGTGTAGGGCTGGAGACCCCCAAGGCTGGCTTTCTGCCCCAGCCCCGTGTACTTTGTTTCTATTTGGCTGGGAGTACAGGGGAGGGCTGAGTCAGGAGGGCAAGCCACGTGGAATTGGAGTTCATAGCTAAAATGAGAATGGATACGTAGAGTCAAGACGGGTAATGGAATTAGTTTAACTCTCTCTTTTAAAACCAGTTCTATTTTGTGAGGAGACATTTTGTTTTCACAGAGCTACAGGCTCTTTAAAATTTCCATTTGCAGGAAACTGCTCTCAGAAACACCTTATGTAATGCTATTGGAAACGAGCAGCAGATGTAACCAGAGAAATGATAAGAGAAGTCACCATCTACACACACATTGCTGTTTACCCAGCAACTAGTGATCCTTTTTGGTAGAGATAAGACATTTCCCTCTTTTAAGAGGAGAGACATAAATGGTTCTTCTCTTTTTAGAGTAAATAATTTTTTTTCTAAATGATTTTGAGTCAAGTGTCTTCTTTTTCCTTTCAAACAGTGGTTTATGACAATATTTTAAATTAGATCAGGGCAATTCTGATTTAACTGTGGAGGTATCTTATGTTCCAGTGAAGGCTGGTAGAAGGAATGCTTCCAGATAACCATTAGGAAGAGCATATTGAATACGAACACATTGCATTGTCTTTTTAATGTAAAACATTTCGTTGTTCTCCTTTCTATCATTAGTTGCTTTTATGATTTAAATACATCGCAGGTAACATTACCACTCAAATCAATTTGTTTGTCTACTTTGCTATAGATATCTGTTCAATAAGCAAGTCCTCCCTGGGGAGTGCCAGGTAGCTATACAGGTTTGTAGCCTAGGTGCAGAGTAGGCTATACCATGAGTTCATATGTCTGTACACATGCCTTGTTAGTTTCTTCATCCTTCTGCCTGACCCATTACCTGTGAATGACACCATTGGGGAACATGGGGGGACTCCACCGGAAGGAGGCCGTCCTTGAGGCCAGCGTCCCGATTTGTGGAGAGGACAGTCCTGAGGGTGGGGCAGGATGGGTTCTCAGTTCAGCTGTCGGTCCTTTGCTGCAACAGTTGAAGCAGGTGCAGGCCTCTACTCCAATAGAAGTTAGTGAAGGCTTGAAGGCCATGGAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCATGACATTTATCCTCAAAAAATTACCAACTCAGTTAGAGAGGTATGACAAATAGGTGAAAAATCTGATAATGTAACCGTTAAATAGACGTTTGAGGTAGCAGGATGGAAATCACAAGGCATAATATTATCGATTATCTATTACCTTAGAAAGGTATTAGAAAATGGCACGGAACACACAAAGTGTTGATCAAAGTCTATGACCCTCAGAGTGATGTCTTTTCAAAAAACAAAATCTGCCTTCCAATTATATGTCTAGTCAGCATTCACCAAGGTCCATATTCTGCCATGGTTACTTGCATGCAATTTCTCAGTCAAAAAATCTTTTCAGATCTACATTAAAATCAGGTATAAGTATTGGAGGGCTTGAAAGTCTATCTCTTCCTCTGAGGGTGTTGGTTTTTACAAAATATCATAGTCTTCTCTCAATCATCTTTGTAGGATTATAAAGTTTTGGTTTATTTTGAGCAAATTTTTAACCTCATTGTGGTTTTAATAAGTACTCTTCGGAACAAGAGTTCAGAAACTGAAATTAATGTTCATGTTGACATAAAGAACATATGATTAAGAAGAGCTGTTAAAAAATGCATACAATGCCCTCCAAATATAAATTATTTTAGTTTATTATCATTTTATAAGCATGGATAATCAAGGGTTGATTGTATTTACATCATCTATATTTATTGAGTACGAAGCCCTATAGAAAATATGCTAATATTCCTTTAACATTCAATCCAAGCCTCCCTGTATGTAAGTTATCTGTTGAAATTGTGTTTCAATACCTGACACTCTGGTCTCAGAGGAATTCTCCACACTTGCCCAAATTGTTCCCTAAATTGGCCTAAATAATGCATAGTGTAATACCAGGATCTGCACAATCTCTATACAATGTTTGTGTGAACAAAGTATTATAATCTCCACTTATTCATGAGAAACTTGAGAGTGACACAAGCTATACCACAGAGACAAGAGTCTTCATCGTGCTGGCTGCTGGTATCTTCATTTAAATAATGCAGGAACTGGTCTAGTTGATTCTTAGCATCGCTTCCGGGAAGTGGCTTGGCTAACGCACAATGTGAAAGATGATTTCCCTGAGCAATCTCTCCTGTCTCCCAGTGTGCCTCAAACGTGTTAACGAACAAACAGTGGAGCTAGGGCTATGCTGATGGAGCTGCTCTGCTCTCTCTTCTAAAGGGTTAGAACTTTCTTGAAATCACCAGAGGAATGAGAGTTTTCCATGTATTATTAGAGATTTGTGCATGTCAAAATAGAGATTCCAAGGATATTCTTTGCTCTATTTTGTTTTCATACTAACATTTACACCACCAATAATTACCATTTGCCAACTTCTTACTATGTGCCACCACTCTAAGTGGTTGATCTGTTTTCTAATTAAATTAAATTAAATTAAATTAGTGTGATTGCCTTTAAAGTCTTAGTTTCTTACGTTTGTGGAGTCTTTAATACCACCTTTAGCATCCCTCTCCCTAAGAGTTTACATACTTTCTGTATGTTTCCTCAGGGTTCACTTTTTCTTCTCTGAGGGATATTTGTGCTACTAAGTTCACCGTAGAGCAACTGAGAACAGAAGGATAAGAAAGATGGAGGGAAAAACAAAAACATAAAAACAAAGGTTTCATAGTAATGATTTTTAAAAGTCAACCAGTCCTGGATTTTTAGCTCTGCTGCTCACCACTGTCTCAGCCCCATGGGCGCTGCTGGAGAACAGCCTGTAGAGACTGACGATCCCGTTGGGCTTCCCAGGGGCACTGATGTTGACCACTGCTTGGGTAGAAGAGATCACATGGAACGTGGGGGCTCTGAGACCTTCTGGTGGGGCTGGCCCGGTTCTGCANN
|
pathogenic
| 21,852
|
Is the genetic mutation found on chromosome 1 at position 215650630, within the gene USH2A (usherin), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Retinitis_pigmentosa_39']
|
CTTGAGGCCAGCGTCCCGATTTGTGGAGAGGACAGTCCTGAGGGTGGGGCAGGATGGGTTCTCAGTTCAGCTGTCGGTCCTTTGCTGCAACAGTTGAAGCAGGTGCAGGCCTCTACTCCAATAGAGTAGTTAGTGAAGGCTTGAAGGCCATGGAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCATGACATTTATCCTCAAAAAATTACCAACTCAGTTAGAGAGGTATGACAAATAGGTGAAAAATCTGATAATGTAACCGTTAAATAGACGTTTGAGGTAGCAGGATGGAAATCACAAGGCATAATATTATCGATTATCTATTACCTTAGAAAGGTATTAGAAAATGGCACGGAACACACAAAGTGTTGATCAAAGTCTATGACCCTCAGAGTGATGTCTTTTCAAAAAACAAAATCTGCCTTCCAATTATATGTCTAGTCAGCATTCACCAAGGTCCATATTCTGCCATGGTTACTTGCATGCAATTTCTCAGTCAAAAAATCTTTTCAGATCTACATTAAAATCAGGTATAAGTATTGGAGGGCTTGAAAGTCTATCTCTTCCTCTGAGGGTGTTGGTTTTTACAAAATATCATAGTCTTCTCTCAATCATCTTTGTAGGATTATAAAGTTTTGGTTTATTTTGAGCAAATTTTTAACCTCATTGTGGTTTTAATAAGTACTCTTCGGAACAAGAGTTCAGAAACTGAAATTAATGTTCATGTTGACATAAAGAACATATGATTAAGAAGAGCTGTTAAAAAATGCATACAATGCCCTCCAAATATAAATTATTTTAGTTTATTATCATTTTATAAGCATGGATAATCAAGGGTTGATTGTATTTACATCATCTATATTTATTGAGTACGAAGCCCTATAGAAAATATGCTAATATTCCTTTAACATTCAATCCAAGCCTCCCTGTATGTAAGTTATCTGTTGAAATTGTGTTTCAATACCTGACACTCTGGTCTCAGAGGAATTCTCCACACTTGCCCAAATTGTTCCCTAAATTGGCCTAAATAATGCATAGTGTAATACCAGGATCTGCACAATCTCTATACAATGTTTGTGTGAACAAAGTATTATAATCTCCACTTATTCATGAGAAACTTGAGAGTGACACAAGCTATACCACAGAGACAAGAGTCTTCATCGTGCTGGCTGCTGGTATCTTCATTTAAATAATGCAGGAACTGGTCTAGTTGATTCTTAGCATCGCTTCCGGGAAGTGGCTTGGCTAACGCACAATGTGAAAGATGATTTCCCTGAGCAATCTCTCCTGTCTCCCAGTGTGCCTCAAACGTGTTAACGAACAAACAGTGGAGCTAGGGCTATGCTGATGGAGCTGCTCTGCTCTCTCTTCTAAAGGGTTAGAACTTTCTTGAAATCACCAGAGGAATGAGAGTTTTCCATGTATTATTAGAGATTTGTGCATGTCAAAATAGAGATTCCAAGGATATTCTTTGCTCTATTTTGTTTTCATACTAACATTTACACCACCAATAATTACCATTTGCCAACTTCTTACTATGTGCCACCACTCTAAGTGGTTGATCTGTTTTCTAATTAAATTAAATTAAATTAAATTAGTGTGATTGCCTTTAAAGTCTTAGTTTCTTACGTTTGTGGAGTCTTTAATACCACCTTTAGCATCCCTCTCCCTAAGAGTTTACATACTTTCTGTATGTTTCCTCAGGGTTCACTTTTTCTTCTCTGAGGGATATTTGTGCTACTAAGTTCACCGTAGAGCAACTGAGAACAGAAGGATAAGAAAGATGGAGGGAAAAACAAAAACATAAAAACAAAGGTTTCATAGTAATGATTTTTAAAAGTCAACCAGTCCTGGATTTTTAGCTCTGCTGCTCACCACTGTCTCAGCCCCATGGGCGCTGCTGGAGAACAGCCTGTAGAGACTGACGATCCCGTTGGGCTTCCCAGGGGCACTGATGTTGACCACTGCTTGGGTAGAAGAGATCACATGGAACGTGGGGGCTCTGAGACCTTCTGGTGGGGCTGGCCCGGTTCTGCACCATGTCCAGCTACTGGGGGCTTTTCCTGCAGAATTCACTGCCCAGACCTCCAAAGAGAAATCAACAAGACTGTCAAAAGCAAGATACCCTAAGGCTGGGAAAAAAAAAAAAAAAAGAAAGGAAAAAAAACGAAATTGGCAACCAAAAGCAACTAAACACAACAGGAAGAGATAAACTTTGATCTTGCAACCTTGTAATCACACAGGAGAGCAAGGAGAGCAGGCTGTTCCTTTTTTATTTTTATTTTTTGCCTTTTGCCTTTGACCATGTGAACACAAAGGGGGCCGTTTAGGATTTCAGAATGCAGCACGTTGATTTAAGCCTAATGAAAAAACTGCTCATCTCTGTGTGGGAAGTGGAGTGATTTTGTCAGCTTCTGCAGACTGGATGGATCTGCAGACTACAAAAAACTCAGCAATTCTTAAACATTGTCCCCACCAAATCTGCATGAAAATTAAATTTCCTTTCATCAAGGAGGGAATAAACATATGGAACGATGTATAATCTTATTTATCAAGAACCATTTGTATAATTAAACACGAATATCCTAAAAGGTTGCCTTAGGTCGTCATTTGCATGAGTAAGTAATTTGTAGAATGTCAGGTACAATAGACAGAGTAGATGGATGTGTGAGTGTATAGGGTTAAATTAGGCCCAATAATAGCCAACTACACAGTGATCAATCAGAATGATAGATCTAAATGGCAATACAAGAAGACTGTCTGCGTGTTTAGGAGTAGTAGTATTCCTTAGTAAGCTTTCATGTGAAAGCCTAACTTCAGGAAATTTTTTTCTCATTGTGTTTCTTCTACATTATATATTTTCTAAAAATTTGCCCCCGAGCTTTTAAAGACAAATCTGAAAAACTTGTTTGATTCTACAGTACACACATTCCAGGCATGCAGTATTGAAAAAAAAAAAAAGCATGCAGAATGTTCAAAATAGGAGATATTTGTGGGGGAAAAAAAGAAAAAACCTATGAGAATATTTTGCAGTGAGAGTTTAGTTTCATTTTTGTTTACTTTGCTTTTGCATCAATAATATCTTCAAGAGAAGAAACATTAGACAGATTTTTAGTAGTTAGGTCAACTCCTATCAGTGGTTTTCATACTTTTCTTTTTTTCCGGATTCCTTTGTGAAAGTAAATTTTCTGATGTTGAATTGTTTTCAGGTTGCTGTCAAATGCAAATCTCCAGCCCCTTGCTGATAGGATTGCCAGGAGCCTCATTTTTTAAAAGAGACAACTAACCTACTTACATAGATACACCTGCTCTTTTTAGAGCTCGGATACATCCTCTCATCATTTGCATAATAATCACTCACATTTGTATAAACTCTACATTTCACAAAGCACTTTAACTTATGTCAGCTTATTTAGTCCTTCCAATGGAAACCTTGTAAGGTGAGCCGAGAATGTATTACTAGTCCCCTTTTAAAGGTGAGGAAATTGAGCCTCAGAAAATTTCACTATCTTGTTCAAGGTGACAAAAGTTACAAGTGCTGAAACAAGAATTCTGCTCTCCAGTGCCTGTTTCAATGAGCAGGGTTTTTGATTCTGTATGCCATCCATATGCATAAATAAAATAGTCAGAATCATGAAAATTAAACGACTTGTCCATAGACGAATACCTGCAATTCTAGATTAGGTTAAGGTGTCTTAGCTTGCAAGGATGGATAGACATGTACAAGTTGTCTTAGGTGAGGGAGGTTTGTTTTGGTAAGCACAGGGAAGTAAGGAGCTAGCAATGGGAGAGCCAGATTTCATGGAAGTTAGAGTCCATCCATCAGAATACAACTGCAGCTGCTCTCAGAGTCCCCTCAGAAATAGGTGAGGTCAGACTTACACTAGGGAGGGGAGGTGGAGGTTATTCATGAAGAAGTCAGACTTCAGGGCTGATGAGGAGGGTTCCTGTCTCCTCACTG
|
CTTGAGGCCAGCGTCCCGATTTGTGGAGAGGACAGTCCTGAGGGTGGGGCAGGATGGGTTCTCAGTTCAGCTGTCGGTCCTTTGCTGCAACAGTTGAAGCAGGTGCAGGCCTCTACTCCAATAGAGTAGTTAGTGAAGGCTTGAAGGCCATGGAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCATGACATTTATCCTCAAAAAATTACCAACTCAGTTAGAGAGGTATGACAAATAGGTGAAAAATCTGATAATGTAACCGTTAAATAGACGTTTGAGGTAGCAGGATGGAAATCACAAGGCATAATATTATCGATTATCTATTACCTTAGAAAGGTATTAGAAAATGGCACGGAACACACAAAGTGTTGATCAAAGTCTATGACCCTCAGAGTGATGTCTTTTCAAAAAACAAAATCTGCCTTCCAATTATATGTCTAGTCAGCATTCACCAAGGTCCATATTCTGCCATGGTTACTTGCATGCAATTTCTCAGTCAAAAAATCTTTTCAGATCTACATTAAAATCAGGTATAAGTATTGGAGGGCTTGAAAGTCTATCTCTTCCTCTGAGGGTGTTGGTTTTTACAAAATATCATAGTCTTCTCTCAATCATCTTTGTAGGATTATAAAGTTTTGGTTTATTTTGAGCAAATTTTTAACCTCATTGTGGTTTTAATAAGTACTCTTCGGAACAAGAGTTCAGAAACTGAAATTAATGTTCATGTTGACATAAAGAACATATGATTAAGAAGAGCTGTTAAAAAATGCATACAATGCCCTCCAAATATAAATTATTTTAGTTTATTATCATTTTATAAGCATGGATAATCAAGGGTTGATTGTATTTACATCATCTATATTTATTGAGTACGAAGCCCTATAGAAAATATGCTAATATTCCTTTAACATTCAATCCAAGCCTCCCTGTATGTAAGTTATCTGTTGAAATTGTGTTTCAATACCTGACACTCTGGTCTCAGAGGAATTCTCCACACTTGCCCAAATTGTTCCCTAAATTGGCCTAAATAATGCATAGTGTAATACCAGGATCTGCACAATCTCTATACAATGTTTGTGTGAACAAAGTATTATAATCTCCACTTATTCATGAGAAACTTGAGAGTGACACAAGCTATACCACAGAGACAAGAGTCTTCATCGTGCTGGCTGCTGGTATCTTCATTTAAATAATGCAGGAACTGGTCTAGTTGATTCTTAGCATCGCTTCCGGGAAGTGGCTTGGCTAACGCACAATGTGAAAGATGATTTCCCTGAGCAATCTCTCCTGTCTCCCAGTGTGCCTCAAACGTGTTAACGAACAAACAGTGGAGCTAGGGCTATGCTGATGGAGCTGCTCTGCTCTCTCTTCTAAAGGGTTAGAACTTTCTTGAAATCACCAGAGGAATGAGAGTTTTCCATGTATTATTAGAGATTTGTGCATGTCAAAATAGAGATTCCAAGGATATTCTTTGCTCTATTTTGTTTTCATACTAACATTTACACCACCAATAATTACCATTTGCCAACTTCTTACTATGTGCCACCACTCTAAGTGGTTGATCTGTTTTCTAATTAAATTAAATTAAATTAAATTAGTGTGATTGCCTTTAAAGTCTTAGTTTCTTACGTTTGTGGAGTCTTTAATACCACCTTTAGCATCCCTCTCCCTAAGAGTTTACATACTTTCTGTATGTTTCCTCAGGGTTCACTTTTTCTTCTCTGAGGGATATTTGTGCTACTAAGTTCACCGTAGAGCAACTGAGAACAGAAGGATAAGAAAGATGGAGGGAAAAACAAAAACATAAAAACAAAGGTTTCATAGTAATGATTTTTAAAAGTCAACCAGTCCTGGATTTTTAGCTCTGCTGCTCACCACTGTCTCAGCCCCATGGGCGCTGCTGGAGAACAGCCTGGCTTCCCAGGGGCACTGATGTTGACCACTGCTTGGGTAGAAGAGATCACATGGAACGTGGGGGCTCTGAGACCTTCTGGTGGGGCTGGCCCGGTTCTGCACCATGTCCAGCTACTGGGGGCTTTTCCTGCAGAATTCACTGCCCAGACCTCCAAAGAGAAATCAACAAGACTGTCAAAAGCAAGATACCCTAAGGCTGGGAAAAAAAAAAAAAAAAGAAAGGAAAAAAAACGAAATTGGCAACCAAAAGCAACTAAACACAACAGGAAGAGATAAACTTTGATCTTGCAACCTTGTAATCACACAGGAGAGCAAGGAGAGCAGGCTGTTCCTTTTTTATTTTTATTTTTTGCCTTTTGCCTTTGACCATGTGAACACAAAGGGGGCCGTTTAGGATTTCAGAATGCAGCACGTTGATTTAAGCCTAATGAAAAAACTGCTCATCTCTGTGTGGGAAGTGGAGTGATTTTGTCAGCTTCTGCAGACTGGATGGATCTGCAGACTACAAAAAACTCAGCAATTCTTAAACATTGTCCCCACCAAATCTGCATGAAAATTAAATTTCCTTTCATCAAGGAGGGAATAAACATATGGAACGATGTATAATCTTATTTATCAAGAACCATTTGTATAATTAAACACGAATATCCTAAAAGGTTGCCTTAGGTCGTCATTTGCATGAGTAAGTAATTTGTAGAATGTCAGGTACAATAGACAGAGTAGATGGATGTGTGAGTGTATAGGGTTAAATTAGGCCCAATAATAGCCAACTACACAGTGATCAATCAGAATGATAGATCTAAATGGCAATACAAGAAGACTGTCTGCGTGTTTAGGAGTAGTAGTATTCCTTAGTAAGCTTTCATGTGAAAGCCTAACTTCAGGAAATTTTTTTCTCATTGTGTTTCTTCTACATTATATATTTTCTAAAAATTTGCCCCCGAGCTTTTAAAGACAAATCTGAAAAACTTGTTTGATTCTACAGTACACACATTCCAGGCATGCAGTATTGAAAAAAAAAAAAAGCATGCAGAATGTTCAAAATAGGAGATATTTGTGGGGGAAAAAAAGAAAAAACCTATGAGAATATTTTGCAGTGAGAGTTTAGTTTCATTTTTGTTTACTTTGCTTTTGCATCAATAATATCTTCAAGAGAAGAAACATTAGACAGATTTTTAGTAGTTAGGTCAACTCCTATCAGTGGTTTTCATACTTTTCTTTTTTTCCGGATTCCTTTGTGAAAGTAAATTTTCTGATGTTGAATTGTTTTCAGGTTGCTGTCAAATGCAAATCTCCAGCCCCTTGCTGATAGGATTGCCAGGAGCCTCATTTTTTAAAAGAGACAACTAACCTACTTACATAGATACACCTGCTCTTTTTAGAGCTCGGATACATCCTCTCATCATTTGCATAATAATCACTCACATTTGTATAAACTCTACATTTCACAAAGCACTTTAACTTATGTCAGCTTATTTAGTCCTTCCAATGGAAACCTTGTAAGGTGAGCCGAGAATGTATTACTAGTCCCCTTTTAAAGGTGAGGAAATTGAGCCTCAGAAAATTTCACTATCTTGTTCAAGGTGACAAAAGTTACAAGTGCTGAAACAAGAATTCTGCTCTCCAGTGCCTGTTTCAATGAGCAGGGTTTTTGATTCTGTATGCCATCCATATGCATAAATAAAATAGTCAGAATCATGAAAATTAAACGACTTGTCCATAGACGAATACCTGCAATTCTAGATTAGGTTAAGGTGTCTTAGCTTGCAAGGATGGATAGACATGTACAAGTTGTCTTAGGTGAGGGAGGTTTGTTTTGGTAAGCACAGGGAAGTAAGGAGCTAGCAATGGGAGAGCCAGATTTCATGGAAGTTAGAGTCCATCCATCAGAATACAACTGCAGCTGCTCTCAGAGTCCCCTCAGAAATAGGTGAGGTCAGACTTACACTAGGGAGGGGAGGTGGAGGTTATTCATGAAGAAGTCAGACTTCAGGGCTGATGAGGAGGGTTCCTGTCTCCTCACTGNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 21,857
|
Considering the variant on chromosome 1, location 215650645, involving gene USH2A (usherin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A']
|
CCGATTTGTGGAGAGGACAGTCCTGAGGGTGGGGCAGGATGGGTTCTCAGTTCAGCTGTCGGTCCTTTGCTGCAACAGTTGAAGCAGGTGCAGGCCTCTACTCCAATAGAGTAGTTAGTGAAGGCTTGAAGGCCATGGAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCATGACATTTATCCTCAAAAAATTACCAACTCAGTTAGAGAGGTATGACAAATAGGTGAAAAATCTGATAATGTAACCGTTAAATAGACGTTTGAGGTAGCAGGATGGAAATCACAAGGCATAATATTATCGATTATCTATTACCTTAGAAAGGTATTAGAAAATGGCACGGAACACACAAAGTGTTGATCAAAGTCTATGACCCTCAGAGTGATGTCTTTTCAAAAAACAAAATCTGCCTTCCAATTATATGTCTAGTCAGCATTCACCAAGGTCCATATTCTGCCATGGTTACTTGCATGCAATTTCTCAGTCAAAAAATCTTTTCAGATCTACATTAAAATCAGGTATAAGTATTGGAGGGCTTGAAAGTCTATCTCTTCCTCTGAGGGTGTTGGTTTTTACAAAATATCATAGTCTTCTCTCAATCATCTTTGTAGGATTATAAAGTTTTGGTTTATTTTGAGCAAATTTTTAACCTCATTGTGGTTTTAATAAGTACTCTTCGGAACAAGAGTTCAGAAACTGAAATTAATGTTCATGTTGACATAAAGAACATATGATTAAGAAGAGCTGTTAAAAAATGCATACAATGCCCTCCAAATATAAATTATTTTAGTTTATTATCATTTTATAAGCATGGATAATCAAGGGTTGATTGTATTTACATCATCTATATTTATTGAGTACGAAGCCCTATAGAAAATATGCTAATATTCCTTTAACATTCAATCCAAGCCTCCCTGTATGTAAGTTATCTGTTGAAATTGTGTTTCAATACCTGACACTCTGGTCTCAGAGGAATTCTCCACACTTGCCCAAATTGTTCCCTAAATTGGCCTAAATAATGCATAGTGTAATACCAGGATCTGCACAATCTCTATACAATGTTTGTGTGAACAAAGTATTATAATCTCCACTTATTCATGAGAAACTTGAGAGTGACACAAGCTATACCACAGAGACAAGAGTCTTCATCGTGCTGGCTGCTGGTATCTTCATTTAAATAATGCAGGAACTGGTCTAGTTGATTCTTAGCATCGCTTCCGGGAAGTGGCTTGGCTAACGCACAATGTGAAAGATGATTTCCCTGAGCAATCTCTCCTGTCTCCCAGTGTGCCTCAAACGTGTTAACGAACAAACAGTGGAGCTAGGGCTATGCTGATGGAGCTGCTCTGCTCTCTCTTCTAAAGGGTTAGAACTTTCTTGAAATCACCAGAGGAATGAGAGTTTTCCATGTATTATTAGAGATTTGTGCATGTCAAAATAGAGATTCCAAGGATATTCTTTGCTCTATTTTGTTTTCATACTAACATTTACACCACCAATAATTACCATTTGCCAACTTCTTACTATGTGCCACCACTCTAAGTGGTTGATCTGTTTTCTAATTAAATTAAATTAAATTAAATTAGTGTGATTGCCTTTAAAGTCTTAGTTTCTTACGTTTGTGGAGTCTTTAATACCACCTTTAGCATCCCTCTCCCTAAGAGTTTACATACTTTCTGTATGTTTCCTCAGGGTTCACTTTTTCTTCTCTGAGGGATATTTGTGCTACTAAGTTCACCGTAGAGCAACTGAGAACAGAAGGATAAGAAAGATGGAGGGAAAAACAAAAACATAAAAACAAAGGTTTCATAGTAATGATTTTTAAAAGTCAACCAGTCCTGGATTTTTAGCTCTGCTGCTCACCACTGTCTCAGCCCCATGGGCGCTGCTGGAGAACAGCCTGTAGAGACTGACGATCCCGTTGGGCTTCCCAGGGGCACTGATGTTGACCACTGCTTGGGTAGAAGAGATCACATGGAACGTGGGGGCTCTGAGACCTTCTGGTGGGGCTGGCCCGGTTCTGCACCATGTCCAGCTACTGGGGGCTTTTCCTGCAGAATTCACTGCCCAGACCTCCAAAGAGAAATCAACAAGACTGTCAAAAGCAAGATACCCTAAGGCTGGGAAAAAAAAAAAAAAAAGAAAGGAAAAAAAACGAAATTGGCAACCAAAAGCAACTAAACACAACAGGAAGAGATAAACTTTGATCTTGCAACCTTGTAATCACACAGGAGAGCAAGGAGAGCAGGCTGTTCCTTTTTTATTTTTATTTTTTGCCTTTTGCCTTTGACCATGTGAACACAAAGGGGGCCGTTTAGGATTTCAGAATGCAGCACGTTGATTTAAGCCTAATGAAAAAACTGCTCATCTCTGTGTGGGAAGTGGAGTGATTTTGTCAGCTTCTGCAGACTGGATGGATCTGCAGACTACAAAAAACTCAGCAATTCTTAAACATTGTCCCCACCAAATCTGCATGAAAATTAAATTTCCTTTCATCAAGGAGGGAATAAACATATGGAACGATGTATAATCTTATTTATCAAGAACCATTTGTATAATTAAACACGAATATCCTAAAAGGTTGCCTTAGGTCGTCATTTGCATGAGTAAGTAATTTGTAGAATGTCAGGTACAATAGACAGAGTAGATGGATGTGTGAGTGTATAGGGTTAAATTAGGCCCAATAATAGCCAACTACACAGTGATCAATCAGAATGATAGATCTAAATGGCAATACAAGAAGACTGTCTGCGTGTTTAGGAGTAGTAGTATTCCTTAGTAAGCTTTCATGTGAAAGCCTAACTTCAGGAAATTTTTTTCTCATTGTGTTTCTTCTACATTATATATTTTCTAAAAATTTGCCCCCGAGCTTTTAAAGACAAATCTGAAAAACTTGTTTGATTCTACAGTACACACATTCCAGGCATGCAGTATTGAAAAAAAAAAAAAGCATGCAGAATGTTCAAAATAGGAGATATTTGTGGGGGAAAAAAAGAAAAAACCTATGAGAATATTTTGCAGTGAGAGTTTAGTTTCATTTTTGTTTACTTTGCTTTTGCATCAATAATATCTTCAAGAGAAGAAACATTAGACAGATTTTTAGTAGTTAGGTCAACTCCTATCAGTGGTTTTCATACTTTTCTTTTTTTCCGGATTCCTTTGTGAAAGTAAATTTTCTGATGTTGAATTGTTTTCAGGTTGCTGTCAAATGCAAATCTCCAGCCCCTTGCTGATAGGATTGCCAGGAGCCTCATTTTTTAAAAGAGACAACTAACCTACTTACATAGATACACCTGCTCTTTTTAGAGCTCGGATACATCCTCTCATCATTTGCATAATAATCACTCACATTTGTATAAACTCTACATTTCACAAAGCACTTTAACTTATGTCAGCTTATTTAGTCCTTCCAATGGAAACCTTGTAAGGTGAGCCGAGAATGTATTACTAGTCCCCTTTTAAAGGTGAGGAAATTGAGCCTCAGAAAATTTCACTATCTTGTTCAAGGTGACAAAAGTTACAAGTGCTGAAACAAGAATTCTGCTCTCCAGTGCCTGTTTCAATGAGCAGGGTTTTTGATTCTGTATGCCATCCATATGCATAAATAAAATAGTCAGAATCATGAAAATTAAACGACTTGTCCATAGACGAATACCTGCAATTCTAGATTAGGTTAAGGTGTCTTAGCTTGCAAGGATGGATAGACATGTACAAGTTGTCTTAGGTGAGGGAGGTTTGTTTTGGTAAGCACAGGGAAGTAAGGAGCTAGCAATGGGAGAGCCAGATTTCATGGAAGTTAGAGTCCATCCATCAGAATACAACTGCAGCTGCTCTCAGAGTCCCCTCAGAAATAGGTGAGGTCAGACTTACACTAGGGAGGGGAGGTGGAGGTTATTCATGAAGAAGTCAGACTTCAGGGCTGATGAGGAGGGTTCCTGTCTCCTCACTGTGCCCCAGAACAACC
|
CCGATTTGTGGAGAGGACAGTCCTGAGGGTGGGGCAGGATGGGTTCTCAGTTCAGCTGTCGGTCCTTTGCTGCAACAGTTGAAGCAGGTGCAGGCCTCTACTCCAATAGAGTAGTTAGTGAAGGCTTGAAGGCCATGGAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCATGACATTTATCCTCAAAAAATTACCAACTCAGTTAGAGAGGTATGACAAATAGGTGAAAAATCTGATAATGTAACCGTTAAATAGACGTTTGAGGTAGCAGGATGGAAATCACAAGGCATAATATTATCGATTATCTATTACCTTAGAAAGGTATTAGAAAATGGCACGGAACACACAAAGTGTTGATCAAAGTCTATGACCCTCAGAGTGATGTCTTTTCAAAAAACAAAATCTGCCTTCCAATTATATGTCTAGTCAGCATTCACCAAGGTCCATATTCTGCCATGGTTACTTGCATGCAATTTCTCAGTCAAAAAATCTTTTCAGATCTACATTAAAATCAGGTATAAGTATTGGAGGGCTTGAAAGTCTATCTCTTCCTCTGAGGGTGTTGGTTTTTACAAAATATCATAGTCTTCTCTCAATCATCTTTGTAGGATTATAAAGTTTTGGTTTATTTTGAGCAAATTTTTAACCTCATTGTGGTTTTAATAAGTACTCTTCGGAACAAGAGTTCAGAAACTGAAATTAATGTTCATGTTGACATAAAGAACATATGATTAAGAAGAGCTGTTAAAAAATGCATACAATGCCCTCCAAATATAAATTATTTTAGTTTATTATCATTTTATAAGCATGGATAATCAAGGGTTGATTGTATTTACATCATCTATATTTATTGAGTACGAAGCCCTATAGAAAATATGCTAATATTCCTTTAACATTCAATCCAAGCCTCCCTGTATGTAAGTTATCTGTTGAAATTGTGTTTCAATACCTGACACTCTGGTCTCAGAGGAATTCTCCACACTTGCCCAAATTGTTCCCTAAATTGGCCTAAATAATGCATAGTGTAATACCAGGATCTGCACAATCTCTATACAATGTTTGTGTGAACAAAGTATTATAATCTCCACTTATTCATGAGAAACTTGAGAGTGACACAAGCTATACCACAGAGACAAGAGTCTTCATCGTGCTGGCTGCTGGTATCTTCATTTAAATAATGCAGGAACTGGTCTAGTTGATTCTTAGCATCGCTTCCGGGAAGTGGCTTGGCTAACGCACAATGTGAAAGATGATTTCCCTGAGCAATCTCTCCTGTCTCCCAGTGTGCCTCAAACGTGTTAACGAACAAACAGTGGAGCTAGGGCTATGCTGATGGAGCTGCTCTGCTCTCTCTTCTAAAGGGTTAGAACTTTCTTGAAATCACCAGAGGAATGAGAGTTTTCCATGTATTATTAGAGATTTGTGCATGTCAAAATAGAGATTCCAAGGATATTCTTTGCTCTATTTTGTTTTCATACTAACATTTACACCACCAATAATTACCATTTGCCAACTTCTTACTATGTGCCACCACTCTAAGTGGTTGATCTGTTTTCTAATTAAATTAAATTAAATTAAATTAGTGTGATTGCCTTTAAAGTCTTAGTTTCTTACGTTTGTGGAGTCTTTAATACCACCTTTAGCATCCCTCTCCCTAAGAGTTTACATACTTTCTGTATGTTTCCTCAGGGTTCACTTTTTCTTCTCTGAGGGATATTTGTGCTACTAAGTTCACCGTAGAGCAACTGAGAACAGAAGGATAAGAAAGATGGAGGGAAAAACAAAAACATAAAAACAAAGGTTTCATAGTAATGATTTTTAAAAGTCAACCAGTCCTGGATTTTTAGCTCTGCTGCTCACCACTGTCTCAGCCCCATGGGCGCTGCTGGAGAACAGCCTGTAGAGACTGACGATCCGTTGGGCTTCCCAGGGGCACTGATGTTGACCACTGCTTGGGTAGAAGAGATCACATGGAACGTGGGGGCTCTGAGACCTTCTGGTGGGGCTGGCCCGGTTCTGCACCATGTCCAGCTACTGGGGGCTTTTCCTGCAGAATTCACTGCCCAGACCTCCAAAGAGAAATCAACAAGACTGTCAAAAGCAAGATACCCTAAGGCTGGGAAAAAAAAAAAAAAAAGAAAGGAAAAAAAACGAAATTGGCAACCAAAAGCAACTAAACACAACAGGAAGAGATAAACTTTGATCTTGCAACCTTGTAATCACACAGGAGAGCAAGGAGAGCAGGCTGTTCCTTTTTTATTTTTATTTTTTGCCTTTTGCCTTTGACCATGTGAACACAAAGGGGGCCGTTTAGGATTTCAGAATGCAGCACGTTGATTTAAGCCTAATGAAAAAACTGCTCATCTCTGTGTGGGAAGTGGAGTGATTTTGTCAGCTTCTGCAGACTGGATGGATCTGCAGACTACAAAAAACTCAGCAATTCTTAAACATTGTCCCCACCAAATCTGCATGAAAATTAAATTTCCTTTCATCAAGGAGGGAATAAACATATGGAACGATGTATAATCTTATTTATCAAGAACCATTTGTATAATTAAACACGAATATCCTAAAAGGTTGCCTTAGGTCGTCATTTGCATGAGTAAGTAATTTGTAGAATGTCAGGTACAATAGACAGAGTAGATGGATGTGTGAGTGTATAGGGTTAAATTAGGCCCAATAATAGCCAACTACACAGTGATCAATCAGAATGATAGATCTAAATGGCAATACAAGAAGACTGTCTGCGTGTTTAGGAGTAGTAGTATTCCTTAGTAAGCTTTCATGTGAAAGCCTAACTTCAGGAAATTTTTTTCTCATTGTGTTTCTTCTACATTATATATTTTCTAAAAATTTGCCCCCGAGCTTTTAAAGACAAATCTGAAAAACTTGTTTGATTCTACAGTACACACATTCCAGGCATGCAGTATTGAAAAAAAAAAAAAGCATGCAGAATGTTCAAAATAGGAGATATTTGTGGGGGAAAAAAAGAAAAAACCTATGAGAATATTTTGCAGTGAGAGTTTAGTTTCATTTTTGTTTACTTTGCTTTTGCATCAATAATATCTTCAAGAGAAGAAACATTAGACAGATTTTTAGTAGTTAGGTCAACTCCTATCAGTGGTTTTCATACTTTTCTTTTTTTCCGGATTCCTTTGTGAAAGTAAATTTTCTGATGTTGAATTGTTTTCAGGTTGCTGTCAAATGCAAATCTCCAGCCCCTTGCTGATAGGATTGCCAGGAGCCTCATTTTTTAAAAGAGACAACTAACCTACTTACATAGATACACCTGCTCTTTTTAGAGCTCGGATACATCCTCTCATCATTTGCATAATAATCACTCACATTTGTATAAACTCTACATTTCACAAAGCACTTTAACTTATGTCAGCTTATTTAGTCCTTCCAATGGAAACCTTGTAAGGTGAGCCGAGAATGTATTACTAGTCCCCTTTTAAAGGTGAGGAAATTGAGCCTCAGAAAATTTCACTATCTTGTTCAAGGTGACAAAAGTTACAAGTGCTGAAACAAGAATTCTGCTCTCCAGTGCCTGTTTCAATGAGCAGGGTTTTTGATTCTGTATGCCATCCATATGCATAAATAAAATAGTCAGAATCATGAAAATTAAACGACTTGTCCATAGACGAATACCTGCAATTCTAGATTAGGTTAAGGTGTCTTAGCTTGCAAGGATGGATAGACATGTACAAGTTGTCTTAGGTGAGGGAGGTTTGTTTTGGTAAGCACAGGGAAGTAAGGAGCTAGCAATGGGAGAGCCAGATTTCATGGAAGTTAGAGTCCATCCATCAGAATACAACTGCAGCTGCTCTCAGAGTCCCCTCAGAAATAGGTGAGGTCAGACTTACACTAGGGAGGGGAGGTGGAGGTTATTCATGAAGAAGTCAGACTTCAGGGCTGATGAGGAGGGTTCCTGTCTCCTCACTGTGCCCCAGAACAACCN
|
pathogenic
| 21,858
|
A mutation at chromosome position 215650702 on chromosome 1 in gene USH2A (usherin): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Retinal_dystrophy', 'Usher_syndrome_type_2A']
|
GTCGGTCCTTTGCTGCAACAGTTGAAGCAGGTGCAGGCCTCTACTCCAATAGAGTAGTTAGTGAAGGCTTGAAGGCCATGGAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCATGACATTTATCCTCAAAAAATTACCAACTCAGTTAGAGAGGTATGACAAATAGGTGAAAAATCTGATAATGTAACCGTTAAATAGACGTTTGAGGTAGCAGGATGGAAATCACAAGGCATAATATTATCGATTATCTATTACCTTAGAAAGGTATTAGAAAATGGCACGGAACACACAAAGTGTTGATCAAAGTCTATGACCCTCAGAGTGATGTCTTTTCAAAAAACAAAATCTGCCTTCCAATTATATGTCTAGTCAGCATTCACCAAGGTCCATATTCTGCCATGGTTACTTGCATGCAATTTCTCAGTCAAAAAATCTTTTCAGATCTACATTAAAATCAGGTATAAGTATTGGAGGGCTTGAAAGTCTATCTCTTCCTCTGAGGGTGTTGGTTTTTACAAAATATCATAGTCTTCTCTCAATCATCTTTGTAGGATTATAAAGTTTTGGTTTATTTTGAGCAAATTTTTAACCTCATTGTGGTTTTAATAAGTACTCTTCGGAACAAGAGTTCAGAAACTGAAATTAATGTTCATGTTGACATAAAGAACATATGATTAAGAAGAGCTGTTAAAAAATGCATACAATGCCCTCCAAATATAAATTATTTTAGTTTATTATCATTTTATAAGCATGGATAATCAAGGGTTGATTGTATTTACATCATCTATATTTATTGAGTACGAAGCCCTATAGAAAATATGCTAATATTCCTTTAACATTCAATCCAAGCCTCCCTGTATGTAAGTTATCTGTTGAAATTGTGTTTCAATACCTGACACTCTGGTCTCAGAGGAATTCTCCACACTTGCCCAAATTGTTCCCTAAATTGGCCTAAATAATGCATAGTGTAATACCAGGATCTGCACAATCTCTATACAATGTTTGTGTGAACAAAGTATTATAATCTCCACTTATTCATGAGAAACTTGAGAGTGACACAAGCTATACCACAGAGACAAGAGTCTTCATCGTGCTGGCTGCTGGTATCTTCATTTAAATAATGCAGGAACTGGTCTAGTTGATTCTTAGCATCGCTTCCGGGAAGTGGCTTGGCTAACGCACAATGTGAAAGATGATTTCCCTGAGCAATCTCTCCTGTCTCCCAGTGTGCCTCAAACGTGTTAACGAACAAACAGTGGAGCTAGGGCTATGCTGATGGAGCTGCTCTGCTCTCTCTTCTAAAGGGTTAGAACTTTCTTGAAATCACCAGAGGAATGAGAGTTTTCCATGTATTATTAGAGATTTGTGCATGTCAAAATAGAGATTCCAAGGATATTCTTTGCTCTATTTTGTTTTCATACTAACATTTACACCACCAATAATTACCATTTGCCAACTTCTTACTATGTGCCACCACTCTAAGTGGTTGATCTGTTTTCTAATTAAATTAAATTAAATTAAATTAGTGTGATTGCCTTTAAAGTCTTAGTTTCTTACGTTTGTGGAGTCTTTAATACCACCTTTAGCATCCCTCTCCCTAAGAGTTTACATACTTTCTGTATGTTTCCTCAGGGTTCACTTTTTCTTCTCTGAGGGATATTTGTGCTACTAAGTTCACCGTAGAGCAACTGAGAACAGAAGGATAAGAAAGATGGAGGGAAAAACAAAAACATAAAAACAAAGGTTTCATAGTAATGATTTTTAAAAGTCAACCAGTCCTGGATTTTTAGCTCTGCTGCTCACCACTGTCTCAGCCCCATGGGCGCTGCTGGAGAACAGCCTGTAGAGACTGACGATCCCGTTGGGCTTCCCAGGGGCACTGATGTTGACCACTGCTTGGGTAGAAGAGATCACATGGAACGTGGGGGCTCTGAGACCTTCTGGTGGGGCTGGCCCGGTTCTGCACCATGTCCAGCTACTGGGGGCTTTTCCTGCAGAATTCACTGCCCAGACCTCCAAAGAGAAATCAACAAGACTGTCAAAAGCAAGATACCCTAAGGCTGGGAAAAAAAAAAAAAAAAGAAAGGAAAAAAAACGAAATTGGCAACCAAAAGCAACTAAACACAACAGGAAGAGATAAACTTTGATCTTGCAACCTTGTAATCACACAGGAGAGCAAGGAGAGCAGGCTGTTCCTTTTTTATTTTTATTTTTTGCCTTTTGCCTTTGACCATGTGAACACAAAGGGGGCCGTTTAGGATTTCAGAATGCAGCACGTTGATTTAAGCCTAATGAAAAAACTGCTCATCTCTGTGTGGGAAGTGGAGTGATTTTGTCAGCTTCTGCAGACTGGATGGATCTGCAGACTACAAAAAACTCAGCAATTCTTAAACATTGTCCCCACCAAATCTGCATGAAAATTAAATTTCCTTTCATCAAGGAGGGAATAAACATATGGAACGATGTATAATCTTATTTATCAAGAACCATTTGTATAATTAAACACGAATATCCTAAAAGGTTGCCTTAGGTCGTCATTTGCATGAGTAAGTAATTTGTAGAATGTCAGGTACAATAGACAGAGTAGATGGATGTGTGAGTGTATAGGGTTAAATTAGGCCCAATAATAGCCAACTACACAGTGATCAATCAGAATGATAGATCTAAATGGCAATACAAGAAGACTGTCTGCGTGTTTAGGAGTAGTAGTATTCCTTAGTAAGCTTTCATGTGAAAGCCTAACTTCAGGAAATTTTTTTCTCATTGTGTTTCTTCTACATTATATATTTTCTAAAAATTTGCCCCCGAGCTTTTAAAGACAAATCTGAAAAACTTGTTTGATTCTACAGTACACACATTCCAGGCATGCAGTATTGAAAAAAAAAAAAAGCATGCAGAATGTTCAAAATAGGAGATATTTGTGGGGGAAAAAAAGAAAAAACCTATGAGAATATTTTGCAGTGAGAGTTTAGTTTCATTTTTGTTTACTTTGCTTTTGCATCAATAATATCTTCAAGAGAAGAAACATTAGACAGATTTTTAGTAGTTAGGTCAACTCCTATCAGTGGTTTTCATACTTTTCTTTTTTTCCGGATTCCTTTGTGAAAGTAAATTTTCTGATGTTGAATTGTTTTCAGGTTGCTGTCAAATGCAAATCTCCAGCCCCTTGCTGATAGGATTGCCAGGAGCCTCATTTTTTAAAAGAGACAACTAACCTACTTACATAGATACACCTGCTCTTTTTAGAGCTCGGATACATCCTCTCATCATTTGCATAATAATCACTCACATTTGTATAAACTCTACATTTCACAAAGCACTTTAACTTATGTCAGCTTATTTAGTCCTTCCAATGGAAACCTTGTAAGGTGAGCCGAGAATGTATTACTAGTCCCCTTTTAAAGGTGAGGAAATTGAGCCTCAGAAAATTTCACTATCTTGTTCAAGGTGACAAAAGTTACAAGTGCTGAAACAAGAATTCTGCTCTCCAGTGCCTGTTTCAATGAGCAGGGTTTTTGATTCTGTATGCCATCCATATGCATAAATAAAATAGTCAGAATCATGAAAATTAAACGACTTGTCCATAGACGAATACCTGCAATTCTAGATTAGGTTAAGGTGTCTTAGCTTGCAAGGATGGATAGACATGTACAAGTTGTCTTAGGTGAGGGAGGTTTGTTTTGGTAAGCACAGGGAAGTAAGGAGCTAGCAATGGGAGAGCCAGATTTCATGGAAGTTAGAGTCCATCCATCAGAATACAACTGCAGCTGCTCTCAGAGTCCCCTCAGAAATAGGTGAGGTCAGACTTACACTAGGGAGGGGAGGTGGAGGTTATTCATGAAGAAGTCAGACTTCAGGGCTGATGAGGAGGGTTCCTGTCTCCTCACTGTGCCCCAGAACAACCTCTTTTACTGCAAATATCTTTCTGGGAAGTGGTGGGGGGGACACCTATTATTACACA
|
GTCGGTCCTTTGCTGCAACAGTTGAAGCAGGTGCAGGCCTCTACTCCAATAGAGTAGTTAGTGAAGGCTTGAAGGCCATGGAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCATGACATTTATCCTCAAAAAATTACCAACTCAGTTAGAGAGGTATGACAAATAGGTGAAAAATCTGATAATGTAACCGTTAAATAGACGTTTGAGGTAGCAGGATGGAAATCACAAGGCATAATATTATCGATTATCTATTACCTTAGAAAGGTATTAGAAAATGGCACGGAACACACAAAGTGTTGATCAAAGTCTATGACCCTCAGAGTGATGTCTTTTCAAAAAACAAAATCTGCCTTCCAATTATATGTCTAGTCAGCATTCACCAAGGTCCATATTCTGCCATGGTTACTTGCATGCAATTTCTCAGTCAAAAAATCTTTTCAGATCTACATTAAAATCAGGTATAAGTATTGGAGGGCTTGAAAGTCTATCTCTTCCTCTGAGGGTGTTGGTTTTTACAAAATATCATAGTCTTCTCTCAATCATCTTTGTAGGATTATAAAGTTTTGGTTTATTTTGAGCAAATTTTTAACCTCATTGTGGTTTTAATAAGTACTCTTCGGAACAAGAGTTCAGAAACTGAAATTAATGTTCATGTTGACATAAAGAACATATGATTAAGAAGAGCTGTTAAAAAATGCATACAATGCCCTCCAAATATAAATTATTTTAGTTTATTATCATTTTATAAGCATGGATAATCAAGGGTTGATTGTATTTACATCATCTATATTTATTGAGTACGAAGCCCTATAGAAAATATGCTAATATTCCTTTAACATTCAATCCAAGCCTCCCTGTATGTAAGTTATCTGTTGAAATTGTGTTTCAATACCTGACACTCTGGTCTCAGAGGAATTCTCCACACTTGCCCAAATTGTTCCCTAAATTGGCCTAAATAATGCATAGTGTAATACCAGGATCTGCACAATCTCTATACAATGTTTGTGTGAACAAAGTATTATAATCTCCACTTATTCATGAGAAACTTGAGAGTGACACAAGCTATACCACAGAGACAAGAGTCTTCATCGTGCTGGCTGCTGGTATCTTCATTTAAATAATGCAGGAACTGGTCTAGTTGATTCTTAGCATCGCTTCCGGGAAGTGGCTTGGCTAACGCACAATGTGAAAGATGATTTCCCTGAGCAATCTCTCCTGTCTCCCAGTGTGCCTCAAACGTGTTAACGAACAAACAGTGGAGCTAGGGCTATGCTGATGGAGCTGCTCTGCTCTCTCTTCTAAAGGGTTAGAACTTTCTTGAAATCACCAGAGGAATGAGAGTTTTCCATGTATTATTAGAGATTTGTGCATGTCAAAATAGAGATTCCAAGGATATTCTTTGCTCTATTTTGTTTTCATACTAACATTTACACCACCAATAATTACCATTTGCCAACTTCTTACTATGTGCCACCACTCTAAGTGGTTGATCTGTTTTCTAATTAAATTAAATTAAATTAAATTAGTGTGATTGCCTTTAAAGTCTTAGTTTCTTACGTTTGTGGAGTCTTTAATACCACCTTTAGCATCCCTCTCCCTAAGAGTTTACATACTTTCTGTATGTTTCCTCAGGGTTCACTTTTTCTTCTCTGAGGGATATTTGTGCTACTAAGTTCACCGTAGAGCAACTGAGAACAGAAGGATAAGAAAGATGGAGGGAAAAACAAAAACATAAAAACAAAGGTTTCATAGTAATGATTTTTAAAAGTCAACCAGTCCTGGATTTTTAGCTCTGCTGCTCACCACTGTCTCAGCCCCATGGGCGCTGCTGGAGAACAGCCTGTAGAGACTGACGATCCCGTTGGGCTTCCCAGGGGCACTGATGTTGACCACTGCTTGGGTAGAAGAGATCACATGGAACGATGGAACGTGGGGGCTCTGAGACCTTCTGGTGGGGCTGGCCCGGTTCTGCACCATGTCCAGCTACTGGGGGCTTTTCCTGCAGAATTCACTGCCCAGACCTCCAAAGAGAAATCAACAAGACTGTCAAAAGCAAGATACCCTAAGGCTGGGAAAAAAAAAAAAAAAAGAAAGGAAAAAAAACGAAATTGGCAACCAAAAGCAACTAAACACAACAGGAAGAGATAAACTTTGATCTTGCAACCTTGTAATCACACAGGAGAGCAAGGAGAGCAGGCTGTTCCTTTTTTATTTTTATTTTTTGCCTTTTGCCTTTGACCATGTGAACACAAAGGGGGCCGTTTAGGATTTCAGAATGCAGCACGTTGATTTAAGCCTAATGAAAAAACTGCTCATCTCTGTGTGGGAAGTGGAGTGATTTTGTCAGCTTCTGCAGACTGGATGGATCTGCAGACTACAAAAAACTCAGCAATTCTTAAACATTGTCCCCACCAAATCTGCATGAAAATTAAATTTCCTTTCATCAAGGAGGGAATAAACATATGGAACGATGTATAATCTTATTTATCAAGAACCATTTGTATAATTAAACACGAATATCCTAAAAGGTTGCCTTAGGTCGTCATTTGCATGAGTAAGTAATTTGTAGAATGTCAGGTACAATAGACAGAGTAGATGGATGTGTGAGTGTATAGGGTTAAATTAGGCCCAATAATAGCCAACTACACAGTGATCAATCAGAATGATAGATCTAAATGGCAATACAAGAAGACTGTCTGCGTGTTTAGGAGTAGTAGTATTCCTTAGTAAGCTTTCATGTGAAAGCCTAACTTCAGGAAATTTTTTTCTCATTGTGTTTCTTCTACATTATATATTTTCTAAAAATTTGCCCCCGAGCTTTTAAAGACAAATCTGAAAAACTTGTTTGATTCTACAGTACACACATTCCAGGCATGCAGTATTGAAAAAAAAAAAAAGCATGCAGAATGTTCAAAATAGGAGATATTTGTGGGGGAAAAAAAGAAAAAACCTATGAGAATATTTTGCAGTGAGAGTTTAGTTTCATTTTTGTTTACTTTGCTTTTGCATCAATAATATCTTCAAGAGAAGAAACATTAGACAGATTTTTAGTAGTTAGGTCAACTCCTATCAGTGGTTTTCATACTTTTCTTTTTTTCCGGATTCCTTTGTGAAAGTAAATTTTCTGATGTTGAATTGTTTTCAGGTTGCTGTCAAATGCAAATCTCCAGCCCCTTGCTGATAGGATTGCCAGGAGCCTCATTTTTTAAAAGAGACAACTAACCTACTTACATAGATACACCTGCTCTTTTTAGAGCTCGGATACATCCTCTCATCATTTGCATAATAATCACTCACATTTGTATAAACTCTACATTTCACAAAGCACTTTAACTTATGTCAGCTTATTTAGTCCTTCCAATGGAAACCTTGTAAGGTGAGCCGAGAATGTATTACTAGTCCCCTTTTAAAGGTGAGGAAATTGAGCCTCAGAAAATTTCACTATCTTGTTCAAGGTGACAAAAGTTACAAGTGCTGAAACAAGAATTCTGCTCTCCAGTGCCTGTTTCAATGAGCAGGGTTTTTGATTCTGTATGCCATCCATATGCATAAATAAAATAGTCAGAATCATGAAAATTAAACGACTTGTCCATAGACGAATACCTGCAATTCTAGATTAGGTTAAGGTGTCTTAGCTTGCAAGGATGGATAGACATGTACAAGTTGTCTTAGGTGAGGGAGGTTTGTTTTGGTAAGCACAGGGAAGTAAGGAGCTAGCAATGGGAGAGCCAGATTTCATGGAAGTTAGAGTCCATCCATCAGAATACAACTGCAGCTGCTCTCAGAGTCCCCTCAGAAATAGGTGAGGTCAGACTTACACTAGGGAGGGGAGGTGGAGGTTATTCATGAAGAAGTCAGACTTCAGGGCTGATGAGGAGGGTTCCTGTCTCCTCACTGTGCCCCAGAACAACCTCTTTTACTGCAAATATCTTTCTGGGAAGTGGTGGGGGGGACACCTATT
|
pathogenic
| 21,866
|
Gene mutation in USH2A (usherin) at chromosome 1, position 215650782—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A']
|
GAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCATGACATTTATCCTCAAAAAATTACCAACTCAGTTAGAGAGGTATGACAAATAGGTGAAAAATCTGATAATGTAACCGTTAAATAGACGTTTGAGGTAGCAGGATGGAAATCACAAGGCATAATATTATCGATTATCTATTACCTTAGAAAGGTATTAGAAAATGGCACGGAACACACAAAGTGTTGATCAAAGTCTATGACCCTCAGAGTGATGTCTTTTCAAAAAACAAAATCTGCCTTCCAATTATATGTCTAGTCAGCATTCACCAAGGTCCATATTCTGCCATGGTTACTTGCATGCAATTTCTCAGTCAAAAAATCTTTTCAGATCTACATTAAAATCAGGTATAAGTATTGGAGGGCTTGAAAGTCTATCTCTTCCTCTGAGGGTGTTGGTTTTTACAAAATATCATAGTCTTCTCTCAATCATCTTTGTAGGATTATAAAGTTTTGGTTTATTTTGAGCAAATTTTTAACCTCATTGTGGTTTTAATAAGTACTCTTCGGAACAAGAGTTCAGAAACTGAAATTAATGTTCATGTTGACATAAAGAACATATGATTAAGAAGAGCTGTTAAAAAATGCATACAATGCCCTCCAAATATAAATTATTTTAGTTTATTATCATTTTATAAGCATGGATAATCAAGGGTTGATTGTATTTACATCATCTATATTTATTGAGTACGAAGCCCTATAGAAAATATGCTAATATTCCTTTAACATTCAATCCAAGCCTCCCTGTATGTAAGTTATCTGTTGAAATTGTGTTTCAATACCTGACACTCTGGTCTCAGAGGAATTCTCCACACTTGCCCAAATTGTTCCCTAAATTGGCCTAAATAATGCATAGTGTAATACCAGGATCTGCACAATCTCTATACAATGTTTGTGTGAACAAAGTATTATAATCTCCACTTATTCATGAGAAACTTGAGAGTGACACAAGCTATACCACAGAGACAAGAGTCTTCATCGTGCTGGCTGCTGGTATCTTCATTTAAATAATGCAGGAACTGGTCTAGTTGATTCTTAGCATCGCTTCCGGGAAGTGGCTTGGCTAACGCACAATGTGAAAGATGATTTCCCTGAGCAATCTCTCCTGTCTCCCAGTGTGCCTCAAACGTGTTAACGAACAAACAGTGGAGCTAGGGCTATGCTGATGGAGCTGCTCTGCTCTCTCTTCTAAAGGGTTAGAACTTTCTTGAAATCACCAGAGGAATGAGAGTTTTCCATGTATTATTAGAGATTTGTGCATGTCAAAATAGAGATTCCAAGGATATTCTTTGCTCTATTTTGTTTTCATACTAACATTTACACCACCAATAATTACCATTTGCCAACTTCTTACTATGTGCCACCACTCTAAGTGGTTGATCTGTTTTCTAATTAAATTAAATTAAATTAAATTAGTGTGATTGCCTTTAAAGTCTTAGTTTCTTACGTTTGTGGAGTCTTTAATACCACCTTTAGCATCCCTCTCCCTAAGAGTTTACATACTTTCTGTATGTTTCCTCAGGGTTCACTTTTTCTTCTCTGAGGGATATTTGTGCTACTAAGTTCACCGTAGAGCAACTGAGAACAGAAGGATAAGAAAGATGGAGGGAAAAACAAAAACATAAAAACAAAGGTTTCATAGTAATGATTTTTAAAAGTCAACCAGTCCTGGATTTTTAGCTCTGCTGCTCACCACTGTCTCAGCCCCATGGGCGCTGCTGGAGAACAGCCTGTAGAGACTGACGATCCCGTTGGGCTTCCCAGGGGCACTGATGTTGACCACTGCTTGGGTAGAAGAGATCACATGGAACGTGGGGGCTCTGAGACCTTCTGGTGGGGCTGGCCCGGTTCTGCACCATGTCCAGCTACTGGGGGCTTTTCCTGCAGAATTCACTGCCCAGACCTCCAAAGAGAAATCAACAAGACTGTCAAAAGCAAGATACCCTAAGGCTGGGAAAAAAAAAAAAAAAAGAAAGGAAAAAAAACGAAATTGGCAACCAAAAGCAACTAAACACAACAGGAAGAGATAAACTTTGATCTTGCAACCTTGTAATCACACAGGAGAGCAAGGAGAGCAGGCTGTTCCTTTTTTATTTTTATTTTTTGCCTTTTGCCTTTGACCATGTGAACACAAAGGGGGCCGTTTAGGATTTCAGAATGCAGCACGTTGATTTAAGCCTAATGAAAAAACTGCTCATCTCTGTGTGGGAAGTGGAGTGATTTTGTCAGCTTCTGCAGACTGGATGGATCTGCAGACTACAAAAAACTCAGCAATTCTTAAACATTGTCCCCACCAAATCTGCATGAAAATTAAATTTCCTTTCATCAAGGAGGGAATAAACATATGGAACGATGTATAATCTTATTTATCAAGAACCATTTGTATAATTAAACACGAATATCCTAAAAGGTTGCCTTAGGTCGTCATTTGCATGAGTAAGTAATTTGTAGAATGTCAGGTACAATAGACAGAGTAGATGGATGTGTGAGTGTATAGGGTTAAATTAGGCCCAATAATAGCCAACTACACAGTGATCAATCAGAATGATAGATCTAAATGGCAATACAAGAAGACTGTCTGCGTGTTTAGGAGTAGTAGTATTCCTTAGTAAGCTTTCATGTGAAAGCCTAACTTCAGGAAATTTTTTTCTCATTGTGTTTCTTCTACATTATATATTTTCTAAAAATTTGCCCCCGAGCTTTTAAAGACAAATCTGAAAAACTTGTTTGATTCTACAGTACACACATTCCAGGCATGCAGTATTGAAAAAAAAAAAAAGCATGCAGAATGTTCAAAATAGGAGATATTTGTGGGGGAAAAAAAGAAAAAACCTATGAGAATATTTTGCAGTGAGAGTTTAGTTTCATTTTTGTTTACTTTGCTTTTGCATCAATAATATCTTCAAGAGAAGAAACATTAGACAGATTTTTAGTAGTTAGGTCAACTCCTATCAGTGGTTTTCATACTTTTCTTTTTTTCCGGATTCCTTTGTGAAAGTAAATTTTCTGATGTTGAATTGTTTTCAGGTTGCTGTCAAATGCAAATCTCCAGCCCCTTGCTGATAGGATTGCCAGGAGCCTCATTTTTTAAAAGAGACAACTAACCTACTTACATAGATACACCTGCTCTTTTTAGAGCTCGGATACATCCTCTCATCATTTGCATAATAATCACTCACATTTGTATAAACTCTACATTTCACAAAGCACTTTAACTTATGTCAGCTTATTTAGTCCTTCCAATGGAAACCTTGTAAGGTGAGCCGAGAATGTATTACTAGTCCCCTTTTAAAGGTGAGGAAATTGAGCCTCAGAAAATTTCACTATCTTGTTCAAGGTGACAAAAGTTACAAGTGCTGAAACAAGAATTCTGCTCTCCAGTGCCTGTTTCAATGAGCAGGGTTTTTGATTCTGTATGCCATCCATATGCATAAATAAAATAGTCAGAATCATGAAAATTAAACGACTTGTCCATAGACGAATACCTGCAATTCTAGATTAGGTTAAGGTGTCTTAGCTTGCAAGGATGGATAGACATGTACAAGTTGTCTTAGGTGAGGGAGGTTTGTTTTGGTAAGCACAGGGAAGTAAGGAGCTAGCAATGGGAGAGCCAGATTTCATGGAAGTTAGAGTCCATCCATCAGAATACAACTGCAGCTGCTCTCAGAGTCCCCTCAGAAATAGGTGAGGTCAGACTTACACTAGGGAGGGGAGGTGGAGGTTATTCATGAAGAAGTCAGACTTCAGGGCTGATGAGGAGGGTTCCTGTCTCCTCACTGTGCCCCAGAACAACCTCTTTTACTGCAAATATCTTTCTGGGAAGTGGTGGGGGGGACACCTATTATTACACAATGAATGACAAGATTTAAAACAATATTCTTGACAAAGGAATGCAAAGTAAGGTGCAAATATTGATATGACGTTTTTTGCC
|
GAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCATGACATTTATCCTCAAAAAATTACCAACTCAGTTAGAGAGGTATGACAAATAGGTGAAAAATCTGATAATGTAACCGTTAAATAGACGTTTGAGGTAGCAGGATGGAAATCACAAGGCATAATATTATCGATTATCTATTACCTTAGAAAGGTATTAGAAAATGGCACGGAACACACAAAGTGTTGATCAAAGTCTATGACCCTCAGAGTGATGTCTTTTCAAAAAACAAAATCTGCCTTCCAATTATATGTCTAGTCAGCATTCACCAAGGTCCATATTCTGCCATGGTTACTTGCATGCAATTTCTCAGTCAAAAAATCTTTTCAGATCTACATTAAAATCAGGTATAAGTATTGGAGGGCTTGAAAGTCTATCTCTTCCTCTGAGGGTGTTGGTTTTTACAAAATATCATAGTCTTCTCTCAATCATCTTTGTAGGATTATAAAGTTTTGGTTTATTTTGAGCAAATTTTTAACCTCATTGTGGTTTTAATAAGTACTCTTCGGAACAAGAGTTCAGAAACTGAAATTAATGTTCATGTTGACATAAAGAACATATGATTAAGAAGAGCTGTTAAAAAATGCATACAATGCCCTCCAAATATAAATTATTTTAGTTTATTATCATTTTATAAGCATGGATAATCAAGGGTTGATTGTATTTACATCATCTATATTTATTGAGTACGAAGCCCTATAGAAAATATGCTAATATTCCTTTAACATTCAATCCAAGCCTCCCTGTATGTAAGTTATCTGTTGAAATTGTGTTTCAATACCTGACACTCTGGTCTCAGAGGAATTCTCCACACTTGCCCAAATTGTTCCCTAAATTGGCCTAAATAATGCATAGTGTAATACCAGGATCTGCACAATCTCTATACAATGTTTGTGTGAACAAAGTATTATAATCTCCACTTATTCATGAGAAACTTGAGAGTGACACAAGCTATACCACAGAGACAAGAGTCTTCATCGTGCTGGCTGCTGGTATCTTCATTTAAATAATGCAGGAACTGGTCTAGTTGATTCTTAGCATCGCTTCCGGGAAGTGGCTTGGCTAACGCACAATGTGAAAGATGATTTCCCTGAGCAATCTCTCCTGTCTCCCAGTGTGCCTCAAACGTGTTAACGAACAAACAGTGGAGCTAGGGCTATGCTGATGGAGCTGCTCTGCTCTCTCTTCTAAAGGGTTAGAACTTTCTTGAAATCACCAGAGGAATGAGAGTTTTCCATGTATTATTAGAGATTTGTGCATGTCAAAATAGAGATTCCAAGGATATTCTTTGCTCTATTTTGTTTTCATACTAACATTTACACCACCAATAATTACCATTTGCCAACTTCTTACTATGTGCCACCACTCTAAGTGGTTGATCTGTTTTCTAATTAAATTAAATTAAATTAAATTAGTGTGATTGCCTTTAAAGTCTTAGTTTCTTACGTTTGTGGAGTCTTTAATACCACCTTTAGCATCCCTCTCCCTAAGAGTTTACATACTTTCTGTATGTTTCCTCAGGGTTCACTTTTTCTTCTCTGAGGGATATTTGTGCTACTAAGTTCACCGTAGAGCAACTGAGAACAGAAGGATAAGAAAGATGGAGGGAAAAACAAAAACATAAAAACAAAGGTTTCATAGTAATGATTTTTAAAAGTCAACCAGTCCTGGATTTTTAGCTCTGCTGCTCACCACTGTCTCAGCCCCATGGGCGCTGCTGGAGAACAGCCTGTAGAGACTGACGATCCCGTTGGGCTTCCCAGGGGCACTGATGTTGACCACTGCTTGGGTAGAAGAGATCACATGGAACGTGGGGGCTCTGAGACCTTCTGGTGGGGCTGGCCCGGTTCTGCACCATGTCCAGCTACTGGGGGCTTTTCCTGCAGACCTCCAAAGAGAAATCAACAAGACTGTCAAAAGCAAGATACCCTAAGGCTGGGAAAAAAAAAAAAAAAAGAAAGGAAAAAAAACGAAATTGGCAACCAAAAGCAACTAAACACAACAGGAAGAGATAAACTTTGATCTTGCAACCTTGTAATCACACAGGAGAGCAAGGAGAGCAGGCTGTTCCTTTTTTATTTTTATTTTTTGCCTTTTGCCTTTGACCATGTGAACACAAAGGGGGCCGTTTAGGATTTCAGAATGCAGCACGTTGATTTAAGCCTAATGAAAAAACTGCTCATCTCTGTGTGGGAAGTGGAGTGATTTTGTCAGCTTCTGCAGACTGGATGGATCTGCAGACTACAAAAAACTCAGCAATTCTTAAACATTGTCCCCACCAAATCTGCATGAAAATTAAATTTCCTTTCATCAAGGAGGGAATAAACATATGGAACGATGTATAATCTTATTTATCAAGAACCATTTGTATAATTAAACACGAATATCCTAAAAGGTTGCCTTAGGTCGTCATTTGCATGAGTAAGTAATTTGTAGAATGTCAGGTACAATAGACAGAGTAGATGGATGTGTGAGTGTATAGGGTTAAATTAGGCCCAATAATAGCCAACTACACAGTGATCAATCAGAATGATAGATCTAAATGGCAATACAAGAAGACTGTCTGCGTGTTTAGGAGTAGTAGTATTCCTTAGTAAGCTTTCATGTGAAAGCCTAACTTCAGGAAATTTTTTTCTCATTGTGTTTCTTCTACATTATATATTTTCTAAAAATTTGCCCCCGAGCTTTTAAAGACAAATCTGAAAAACTTGTTTGATTCTACAGTACACACATTCCAGGCATGCAGTATTGAAAAAAAAAAAAAGCATGCAGAATGTTCAAAATAGGAGATATTTGTGGGGGAAAAAAAGAAAAAACCTATGAGAATATTTTGCAGTGAGAGTTTAGTTTCATTTTTGTTTACTTTGCTTTTGCATCAATAATATCTTCAAGAGAAGAAACATTAGACAGATTTTTAGTAGTTAGGTCAACTCCTATCAGTGGTTTTCATACTTTTCTTTTTTTCCGGATTCCTTTGTGAAAGTAAATTTTCTGATGTTGAATTGTTTTCAGGTTGCTGTCAAATGCAAATCTCCAGCCCCTTGCTGATAGGATTGCCAGGAGCCTCATTTTTTAAAAGAGACAACTAACCTACTTACATAGATACACCTGCTCTTTTTAGAGCTCGGATACATCCTCTCATCATTTGCATAATAATCACTCACATTTGTATAAACTCTACATTTCACAAAGCACTTTAACTTATGTCAGCTTATTTAGTCCTTCCAATGGAAACCTTGTAAGGTGAGCCGAGAATGTATTACTAGTCCCCTTTTAAAGGTGAGGAAATTGAGCCTCAGAAAATTTCACTATCTTGTTCAAGGTGACAAAAGTTACAAGTGCTGAAACAAGAATTCTGCTCTCCAGTGCCTGTTTCAATGAGCAGGGTTTTTGATTCTGTATGCCATCCATATGCATAAATAAAATAGTCAGAATCATGAAAATTAAACGACTTGTCCATAGACGAATACCTGCAATTCTAGATTAGGTTAAGGTGTCTTAGCTTGCAAGGATGGATAGACATGTACAAGTTGTCTTAGGTGAGGGAGGTTTGTTTTGGTAAGCACAGGGAAGTAAGGAGCTAGCAATGGGAGAGCCAGATTTCATGGAAGTTAGAGTCCATCCATCAGAATACAACTGCAGCTGCTCTCAGAGTCCCCTCAGAAATAGGTGAGGTCAGACTTACACTAGGGAGGGGAGGTGGAGGTTATTCATGAAGAAGTCAGACTTCAGGGCTGATGAGGAGGGTTCCTGTCTCCTCACTGTGCCCCAGAACAACCTCTTTTACTGCAAATATCTTTCTGGGAAGTGGTGGGGGGGACACCTATTATTACACAATGAATGACAAGATTTAAAACAATATTCTTGACAAAGGAATGCAAAGTAAGGTGCAAATATTGATATGACGTTTTTTGCCNNNNNNNNNNNNNN
|
pathogenic
| 21,874
|
Is the genetic mutation found on chromosome 1 at position 215671073, within the gene USH2A (usherin), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Rare_genetic_deafness', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A']
|
AGAGCGAGACTCTGTCTCGAACAAAGAAACAAACAAACAAACAAAAACTGGAATGAGACTTCCACAGATCATGTGACCAGAATTTAACCCAATGACACAACACAATACCAGAGAAAGTTTGTGTTTCTTATATATGGGTCATTAAGTTGCGTTTAATTAGCGGCTGAAGATTTTATGCTGATTTCATCCAGCTCTCTCACGAAGGTACCATTTTTATTTGTAAGGGAGACTAGATAACTGACAGCTTGATAACGTGACACTTCTCAATAAAGGTAATGAGAAAAGAACAAAAGGGCAGGCACGTAGGTTCTGGCTGTTTCTAACAGTGTTACGTTTCCGATGGTGGCATCGGTAAGTATTTTGTTCCTTTATGACATAAACCACAATTCTTATCCTAAACCCTTGGGGGCCTGATGTGTTTTAAAATAATTTTGTTTTTAGATTTTGAAATAGGATAAAATGTATATACTGTATATTTTGTAATATCCATACCATGATCTGATTAGCCATCTTATAATAAAGCAATATTTTTGTAGCAAAACATATAAATATTCATATTAAATGGGATAAATAAATACTGTAAATAGTCTCAAGTCTGTTTAGATTGGGTTTTGTTGCCAAATGACTTGTGGTAAAGCAAGAAAATACTTTTAAGAGATTTTTAGACTTGGAATTGCAAACAAGGGATTATGGATTTATATCTGTGTATTTTTCCAAACCATTCGAGAATTTATTTATATTTTTAAATCTTATTAATTCGGTAATTTGTCCCATACATTATTGTCCTAAAATATTCTTTTCATGCTTAAAATGTTCCCTGTATTCACTGTACTCATTGATTTGGTCACTATCTTTTTGGTGACTTATTATTTTTAGTATTTCATGTTATAATAAGCTTTTTAAGGCTCAGTTTCCTCTTTTAGAAAATTTCTGTTGGCATTGTTCCTGGCACTTAAGTGCTTACATCAGTCAGTAAGCTTTCTTTGACTGCAAGCAAGAGGCACTGATTCTGACTTAAGCAAATGAGAATTTACTGTGAGTTTATGGAATTAAAAGAACGGTTGAAGAACCATGCTTGGAAATAGCAGGGAAAAGAAAAACTTTTAGATTGAGGTTAGGGATATTTTATCACGACTTCTCACCTCCACCTTTTAAAATTCTGAGTCACTCTGCTGAAGATCAAGCCCCAGGCAAATCTGAGGGGCTGAGCGGCTCATGTGCCCACCACTTGGCTAGAAGACAGCCTGACACATTGATTGACACTCCCACCACGCCTGAGCAAAGGGTGGGGGAAGCACATTCTCCCACAGGAAATGAGGTTGTTATCACAAGAAGAATGCAAATGGACTCTGATGGCAAAACAAAACAAACCTAACAGAAGTCCTCCACAGAATTCACCATATTTTCTGAATATTATTCTTAATTCTTGGCTTTTTAAGAATGCAGTCTTATTTTTTTAGGCCATCCTCAGAGAAAACTTAACTCATCGCCATGGGCAGGTGAGTTGTATTCCTCTAGACTTTTTTCAACATTCTGTATCTTTCTTGAGCACCGAGGCTAGAGATGTTTGCTATTTGATTTTATTTTGGTACGAGTAATGAGTTATTTTCAAAGTGATCTTTAAATAAGGAGTGTCTCCTACCAAGGCAACGCTGACAGAGGGAATCTTAATGGCAGAAACCACTTTACTAATAAGAAATGCAAATTCACCTGGAATCTACTTAAGAAAAACAACGTATATAATATGGCTCAAAAACCAAGAAAATGAAAAAGGCAATGAACATGGTTTTTCCTCATTTACCACTTAAAAATTTTTAAGGAATATTATTATTCTCCTTAAGTCCTACATTTCTTTAAGTGCCTTTTCAAATTGTGCACCATTTTTACAGGCAGGTGCTGACGGGTGCAAACAATCAGCTCGAATTGTTTATAATACACATTTCTTACCTGATACTCATACTCTGTGAAAGGCAATAGTTCGGAATCTATAAAAGATGTTGAGCTTCCGTTATAGATTAGGACTGGATTGGATTTTCTAGGCTGAGTTGCTATTTGTCTTCTGTATAATTCGTAATACAAAACTTTTCCATTTGGCTGCAGCGGTCCTGTCCACAAAAGAGAAACAGTTGGCTGGAATCCTCCTGGAGCCATTTGTACCTCCAGATGTGGAGGGGGTTGCATCAAAGGTGCAATCTCAGGGGTCTGTATGAATGTCCAGTCACTTGATGCACATCCCAGGGTGGTGCACGCTTGAATTCGTATTTCATACCTTCAGGACATAAGGCAGAAATTAGTGATTTTCAGCAAAATAGATTTTCATGGGAAGAATCTTTAAAACACCAGGCCTTAAAAAAAAAAGACAAGCTTACATGTATTCTTATTCACAGCTAATTCTTAAGAATAACAAAGTTGAGAATGGCTTGAACCTGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCCGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAATTATATTTCCATGGAAATTTTTGAACAATCAAAATCCCCCTGGCTTTCTAAACTAAAGTTCCTGATCTGTTCGAAAGGGGTGAGTGCAATTCTTCCCCTAAACAAGGATGTATGGAATAAATAACTCTCAAGATTCTTTCCGGCATGAAAATTCTGGTACTCTTCAGAATTACTTAACATAGCAATGAAGAATGCAGACCTTAGAAAGTATGAAGCAGTTCTCAGCAGTCCTGGACTCCTACCTTTGCAGCTAGAGCTAAATGATCCCTCAGGAATGTTTCCAGGTCATGAAGGAACATCATGGAATGATCCCCCAGGAATGTTTCCAGGTCATGAAGGAACATCATGGAATTACGGTCTCAGTGGTAATAAATCCCCTCACCTGATACCTAACAGCTTAAAACAGCCTCCCTTACATGATACAAAGACCTTGCGGGGCCAAAGTTAACCCAACTACACACCAGATTATCAATCATGAAGACACCTTATCACCATCCAGTTAAATTCAACTAATCAATTATGTTTTGCCTCATAGCTGGTCTCTGCTACTTGAAAAGGTCTATTTACATAGCAGGGACTTCTCCTTTCCAACAAAATGAGTTTTTGTGAGTATTTAGTGCCTATGGCTGTAAATGAGCACTTTTTTCTCTATTCCCAACCACCATTGATTTTATGACACCTTCAATTTTCCCGCAGGCACCCAGCTATCTTCTTTCTACCTTTATTCCTTTTAGTTCTAGCCTTTTCCTCTTCTATTTTCTACCTCCCCTCTTTGCTCTTTGAATCACTGCTTTCTGTTCTTGTACATGTTCTGTCTCTTCCACCTTTTTGCTTTCTTAATTACACCTTTTTCCCTTTGTGACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAATCCACTAAAAACAAAAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTCACATTCTTAAATATCCTTGCAATTTATCAGATAAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGAGCAAATTGATATGGTTTTTGAAAGTTGGAGGTACAGTCAGGTAAAGAGGAAGCCAGTCTAGAATATACAGCTCTGCAGCTACAGTGGACCTTTTTAATGCCCTGAATCAGTGTAAGGTAATATAAAAGCCAACTCACATAGCATGTGGA
|
AGAGCGAGACTCTGTCTCGAACAAAGAAACAAACAAACAAACAAAAACTGGAATGAGACTTCCACAGATCATGTGACCAGAATTTAACCCAATGACACAACACAATACCAGAGAAAGTTTGTGTTTCTTATATATGGGTCATTAAGTTGCGTTTAATTAGCGGCTGAAGATTTTATGCTGATTTCATCCAGCTCTCTCACGAAGGTACCATTTTTATTTGTAAGGGAGACTAGATAACTGACAGCTTGATAACGTGACACTTCTCAATAAAGGTAATGAGAAAAGAACAAAAGGGCAGGCACGTAGGTTCTGGCTGTTTCTAACAGTGTTACGTTTCCGATGGTGGCATCGGTAAGTATTTTGTTCCTTTATGACATAAACCACAATTCTTATCCTAAACCCTTGGGGGCCTGATGTGTTTTAAAATAATTTTGTTTTTAGATTTTGAAATAGGATAAAATGTATATACTGTATATTTTGTAATATCCATACCATGATCTGATTAGCCATCTTATAATAAAGCAATATTTTTGTAGCAAAACATATAAATATTCATATTAAATGGGATAAATAAATACTGTAAATAGTCTCAAGTCTGTTTAGATTGGGTTTTGTTGCCAAATGACTTGTGGTAAAGCAAGAAAATACTTTTAAGAGATTTTTAGACTTGGAATTGCAAACAAGGGATTATGGATTTATATCTGTGTATTTTTCCAAACCATTCGAGAATTTATTTATATTTTTAAATCTTATTAATTCGGTAATTTGTCCCATACATTATTGTCCTAAAATATTCTTTTCATGCTTAAAATGTTCCCTGTATTCACTGTACTCATTGATTTGGTCACTATCTTTTTGGTGACTTATTATTTTTAGTATTTCATGTTATAATAAGCTTTTTAAGGCTCAGTTTCCTCTTTTAGAAAATTTCTGTTGGCATTGTTCCTGGCACTTAAGTGCTTACATCAGTCAGTAAGCTTTCTTTGACTGCAAGCAAGAGGCACTGATTCTGACTTAAGCAAATGAGAATTTACTGTGAGTTTATGGAATTAAAAGAACGGTTGAAGAACCATGCTTGGAAATAGCAGGGAAAAGAAAAACTTTTAGATTGAGGTTAGGGATATTTTATCACGACTTCTCACCTCCACCTTTTAAAATTCTGAGTCACTCTGCTGAAGATCAAGCCCCAGGCAAATCTGAGGGGCTGAGCGGCTCATGTGCCCACCACTTGGCTAGAAGACAGCCTGACACATTGATTGACACTCCCACCACGCCTGAGCAAAGGGTGGGGGAAGCACATTCTCCCACAGGAAATGAGGTTGTTATCACAAGAAGAATGCAAATGGACTCTGATGGCAAAACAAAACAAACCTAACAGAAGTCCTCCACAGAATTCACCATATTTTCTGAATATTATTCTTAATTCTTGGCTTTTTAAGAATGCAGTCTTATTTTTTTAGGCCATCCTCAGAGAAAACTTAACTCATCGCCATGGGCAGGTGAGTTGTATTCCTCTAGACTTTTTTCAACATTCTGTATCTTTCTTGAGCACCGAGGCTAGAGATGTTTGCTATTTGATTTTATTTTGGTACGAGTAATGAGTTATTTTCAAAGTGATCTTTAAATAAGGAGTGTCTCCTACCAAGGCAACGCTGACAGAGGGAATCTTAATGGCAGAAACCACTTTACTAATAAGAAATGCAAATTCACCTGGAATCTACTTAAGAAAAACAACGTATATAATATGGCTCAAAAACCAAGAAAATGAAAAAGGCAATGAACATGGTTTTTCCTCATTTACCACTTAAAAATTTTTAAGGAATATTATTATTCTCCTTAAGTCCTACATTTCTTTAAGTGCCTTTTCAAATTGTGCACCATTTTTACAGGCAGGTGCTGACGGGTGCAAACAATCAGCTCGAATTGTTTATAATACACATTTCTTACCTGATACTCATACTCTGTGAAAGGCAATAGTTCGGAATCTATAAAAGATGTTGAGCTTCCGTTATAGATTAGGACTGGATTGGATTTTCTAGGCTGAGTTGCTTATTTGTCTTCTGTATAATTCGTAATACAAAACTTTTCCATTTGGCTGCAGCGGTCCTGTCCACAAAAGAGAAACAGTTGGCTGGAATCCTCCTGGAGCCATTTGTACCTCCAGATGTGGAGGGGGTTGCATCAAAGGTGCAATCTCAGGGGTCTGTATGAATGTCCAGTCACTTGATGCACATCCCAGGGTGGTGCACGCTTGAATTCGTATTTCATACCTTCAGGACATAAGGCAGAAATTAGTGATTTTCAGCAAAATAGATTTTCATGGGAAGAATCTTTAAAACACCAGGCCTTAAAAAAAAAAGACAAGCTTACATGTATTCTTATTCACAGCTAATTCTTAAGAATAACAAAGTTGAGAATGGCTTGAACCTGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCCGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAATTATATTTCCATGGAAATTTTTGAACAATCAAAATCCCCCTGGCTTTCTAAACTAAAGTTCCTGATCTGTTCGAAAGGGGTGAGTGCAATTCTTCCCCTAAACAAGGATGTATGGAATAAATAACTCTCAAGATTCTTTCCGGCATGAAAATTCTGGTACTCTTCAGAATTACTTAACATAGCAATGAAGAATGCAGACCTTAGAAAGTATGAAGCAGTTCTCAGCAGTCCTGGACTCCTACCTTTGCAGCTAGAGCTAAATGATCCCTCAGGAATGTTTCCAGGTCATGAAGGAACATCATGGAATGATCCCCCAGGAATGTTTCCAGGTCATGAAGGAACATCATGGAATTACGGTCTCAGTGGTAATAAATCCCCTCACCTGATACCTAACAGCTTAAAACAGCCTCCCTTACATGATACAAAGACCTTGCGGGGCCAAAGTTAACCCAACTACACACCAGATTATCAATCATGAAGACACCTTATCACCATCCAGTTAAATTCAACTAATCAATTATGTTTTGCCTCATAGCTGGTCTCTGCTACTTGAAAAGGTCTATTTACATAGCAGGGACTTCTCCTTTCCAACAAAATGAGTTTTTGTGAGTATTTAGTGCCTATGGCTGTAAATGAGCACTTTTTTCTCTATTCCCAACCACCATTGATTTTATGACACCTTCAATTTTCCCGCAGGCACCCAGCTATCTTCTTTCTACCTTTATTCCTTTTAGTTCTAGCCTTTTCCTCTTCTATTTTCTACCTCCCCTCTTTGCTCTTTGAATCACTGCTTTCTGTTCTTGTACATGTTCTGTCTCTTCCACCTTTTTGCTTTCTTAATTACACCTTTTTCCCTTTGTGACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAATCCACTAAAAACAAAAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTCACATTCTTAAATATCCTTGCAATTTATCAGATAAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGAGCAAATTGATATGGTTTTTGAAAGTTGGAGGTACAGTCAGGTAAAGAGGAAGCCAGTCTAGAATATACAGCTCTGCAGCTACAGTGGACCTTTTTAATGCCCTGAATCAGTGTAAGGTAATATAAAAGCCAACTCACATAGCATGTGG
|
pathogenic
| 21,882
|
Variant in USH2A (usherin), chromosome 1, position 215671088—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome']
|
CTCGAACAAAGAAACAAACAAACAAACAAAAACTGGAATGAGACTTCCACAGATCATGTGACCAGAATTTAACCCAATGACACAACACAATACCAGAGAAAGTTTGTGTTTCTTATATATGGGTCATTAAGTTGCGTTTAATTAGCGGCTGAAGATTTTATGCTGATTTCATCCAGCTCTCTCACGAAGGTACCATTTTTATTTGTAAGGGAGACTAGATAACTGACAGCTTGATAACGTGACACTTCTCAATAAAGGTAATGAGAAAAGAACAAAAGGGCAGGCACGTAGGTTCTGGCTGTTTCTAACAGTGTTACGTTTCCGATGGTGGCATCGGTAAGTATTTTGTTCCTTTATGACATAAACCACAATTCTTATCCTAAACCCTTGGGGGCCTGATGTGTTTTAAAATAATTTTGTTTTTAGATTTTGAAATAGGATAAAATGTATATACTGTATATTTTGTAATATCCATACCATGATCTGATTAGCCATCTTATAATAAAGCAATATTTTTGTAGCAAAACATATAAATATTCATATTAAATGGGATAAATAAATACTGTAAATAGTCTCAAGTCTGTTTAGATTGGGTTTTGTTGCCAAATGACTTGTGGTAAAGCAAGAAAATACTTTTAAGAGATTTTTAGACTTGGAATTGCAAACAAGGGATTATGGATTTATATCTGTGTATTTTTCCAAACCATTCGAGAATTTATTTATATTTTTAAATCTTATTAATTCGGTAATTTGTCCCATACATTATTGTCCTAAAATATTCTTTTCATGCTTAAAATGTTCCCTGTATTCACTGTACTCATTGATTTGGTCACTATCTTTTTGGTGACTTATTATTTTTAGTATTTCATGTTATAATAAGCTTTTTAAGGCTCAGTTTCCTCTTTTAGAAAATTTCTGTTGGCATTGTTCCTGGCACTTAAGTGCTTACATCAGTCAGTAAGCTTTCTTTGACTGCAAGCAAGAGGCACTGATTCTGACTTAAGCAAATGAGAATTTACTGTGAGTTTATGGAATTAAAAGAACGGTTGAAGAACCATGCTTGGAAATAGCAGGGAAAAGAAAAACTTTTAGATTGAGGTTAGGGATATTTTATCACGACTTCTCACCTCCACCTTTTAAAATTCTGAGTCACTCTGCTGAAGATCAAGCCCCAGGCAAATCTGAGGGGCTGAGCGGCTCATGTGCCCACCACTTGGCTAGAAGACAGCCTGACACATTGATTGACACTCCCACCACGCCTGAGCAAAGGGTGGGGGAAGCACATTCTCCCACAGGAAATGAGGTTGTTATCACAAGAAGAATGCAAATGGACTCTGATGGCAAAACAAAACAAACCTAACAGAAGTCCTCCACAGAATTCACCATATTTTCTGAATATTATTCTTAATTCTTGGCTTTTTAAGAATGCAGTCTTATTTTTTTAGGCCATCCTCAGAGAAAACTTAACTCATCGCCATGGGCAGGTGAGTTGTATTCCTCTAGACTTTTTTCAACATTCTGTATCTTTCTTGAGCACCGAGGCTAGAGATGTTTGCTATTTGATTTTATTTTGGTACGAGTAATGAGTTATTTTCAAAGTGATCTTTAAATAAGGAGTGTCTCCTACCAAGGCAACGCTGACAGAGGGAATCTTAATGGCAGAAACCACTTTACTAATAAGAAATGCAAATTCACCTGGAATCTACTTAAGAAAAACAACGTATATAATATGGCTCAAAAACCAAGAAAATGAAAAAGGCAATGAACATGGTTTTTCCTCATTTACCACTTAAAAATTTTTAAGGAATATTATTATTCTCCTTAAGTCCTACATTTCTTTAAGTGCCTTTTCAAATTGTGCACCATTTTTACAGGCAGGTGCTGACGGGTGCAAACAATCAGCTCGAATTGTTTATAATACACATTTCTTACCTGATACTCATACTCTGTGAAAGGCAATAGTTCGGAATCTATAAAAGATGTTGAGCTTCCGTTATAGATTAGGACTGGATTGGATTTTCTAGGCTGAGTTGCTATTTGTCTTCTGTATAATTCGTAATACAAAACTTTTCCATTTGGCTGCAGCGGTCCTGTCCACAAAAGAGAAACAGTTGGCTGGAATCCTCCTGGAGCCATTTGTACCTCCAGATGTGGAGGGGGTTGCATCAAAGGTGCAATCTCAGGGGTCTGTATGAATGTCCAGTCACTTGATGCACATCCCAGGGTGGTGCACGCTTGAATTCGTATTTCATACCTTCAGGACATAAGGCAGAAATTAGTGATTTTCAGCAAAATAGATTTTCATGGGAAGAATCTTTAAAACACCAGGCCTTAAAAAAAAAAGACAAGCTTACATGTATTCTTATTCACAGCTAATTCTTAAGAATAACAAAGTTGAGAATGGCTTGAACCTGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCCGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAATTATATTTCCATGGAAATTTTTGAACAATCAAAATCCCCCTGGCTTTCTAAACTAAAGTTCCTGATCTGTTCGAAAGGGGTGAGTGCAATTCTTCCCCTAAACAAGGATGTATGGAATAAATAACTCTCAAGATTCTTTCCGGCATGAAAATTCTGGTACTCTTCAGAATTACTTAACATAGCAATGAAGAATGCAGACCTTAGAAAGTATGAAGCAGTTCTCAGCAGTCCTGGACTCCTACCTTTGCAGCTAGAGCTAAATGATCCCTCAGGAATGTTTCCAGGTCATGAAGGAACATCATGGAATGATCCCCCAGGAATGTTTCCAGGTCATGAAGGAACATCATGGAATTACGGTCTCAGTGGTAATAAATCCCCTCACCTGATACCTAACAGCTTAAAACAGCCTCCCTTACATGATACAAAGACCTTGCGGGGCCAAAGTTAACCCAACTACACACCAGATTATCAATCATGAAGACACCTTATCACCATCCAGTTAAATTCAACTAATCAATTATGTTTTGCCTCATAGCTGGTCTCTGCTACTTGAAAAGGTCTATTTACATAGCAGGGACTTCTCCTTTCCAACAAAATGAGTTTTTGTGAGTATTTAGTGCCTATGGCTGTAAATGAGCACTTTTTTCTCTATTCCCAACCACCATTGATTTTATGACACCTTCAATTTTCCCGCAGGCACCCAGCTATCTTCTTTCTACCTTTATTCCTTTTAGTTCTAGCCTTTTCCTCTTCTATTTTCTACCTCCCCTCTTTGCTCTTTGAATCACTGCTTTCTGTTCTTGTACATGTTCTGTCTCTTCCACCTTTTTGCTTTCTTAATTACACCTTTTTCCCTTTGTGACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAATCCACTAAAAACAAAAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTCACATTCTTAAATATCCTTGCAATTTATCAGATAAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGAGCAAATTGATATGGTTTTTGAAAGTTGGAGGTACAGTCAGGTAAAGAGGAAGCCAGTCTAGAATATACAGCTCTGCAGCTACAGTGGACCTTTTTAATGCCCTGAATCAGTGTAAGGTAATATAAAAGCCAACTCACATAGCATGTGGATTAGCTGCAGAGGAT
|
CTCGAACAAAGAAACAAACAAACAAACAAAAACTGGAATGAGACTTCCACAGATCATGTGACCAGAATTTAACCCAATGACACAACACAATACCAGAGAAAGTTTGTGTTTCTTATATATGGGTCATTAAGTTGCGTTTAATTAGCGGCTGAAGATTTTATGCTGATTTCATCCAGCTCTCTCACGAAGGTACCATTTTTATTTGTAAGGGAGACTAGATAACTGACAGCTTGATAACGTGACACTTCTCAATAAAGGTAATGAGAAAAGAACAAAAGGGCAGGCACGTAGGTTCTGGCTGTTTCTAACAGTGTTACGTTTCCGATGGTGGCATCGGTAAGTATTTTGTTCCTTTATGACATAAACCACAATTCTTATCCTAAACCCTTGGGGGCCTGATGTGTTTTAAAATAATTTTGTTTTTAGATTTTGAAATAGGATAAAATGTATATACTGTATATTTTGTAATATCCATACCATGATCTGATTAGCCATCTTATAATAAAGCAATATTTTTGTAGCAAAACATATAAATATTCATATTAAATGGGATAAATAAATACTGTAAATAGTCTCAAGTCTGTTTAGATTGGGTTTTGTTGCCAAATGACTTGTGGTAAAGCAAGAAAATACTTTTAAGAGATTTTTAGACTTGGAATTGCAAACAAGGGATTATGGATTTATATCTGTGTATTTTTCCAAACCATTCGAGAATTTATTTATATTTTTAAATCTTATTAATTCGGTAATTTGTCCCATACATTATTGTCCTAAAATATTCTTTTCATGCTTAAAATGTTCCCTGTATTCACTGTACTCATTGATTTGGTCACTATCTTTTTGGTGACTTATTATTTTTAGTATTTCATGTTATAATAAGCTTTTTAAGGCTCAGTTTCCTCTTTTAGAAAATTTCTGTTGGCATTGTTCCTGGCACTTAAGTGCTTACATCAGTCAGTAAGCTTTCTTTGACTGCAAGCAAGAGGCACTGATTCTGACTTAAGCAAATGAGAATTTACTGTGAGTTTATGGAATTAAAAGAACGGTTGAAGAACCATGCTTGGAAATAGCAGGGAAAAGAAAAACTTTTAGATTGAGGTTAGGGATATTTTATCACGACTTCTCACCTCCACCTTTTAAAATTCTGAGTCACTCTGCTGAAGATCAAGCCCCAGGCAAATCTGAGGGGCTGAGCGGCTCATGTGCCCACCACTTGGCTAGAAGACAGCCTGACACATTGATTGACACTCCCACCACGCCTGAGCAAAGGGTGGGGGAAGCACATTCTCCCACAGGAAATGAGGTTGTTATCACAAGAAGAATGCAAATGGACTCTGATGGCAAAACAAAACAAACCTAACAGAAGTCCTCCACAGAATTCACCATATTTTCTGAATATTATTCTTAATTCTTGGCTTTTTAAGAATGCAGTCTTATTTTTTTAGGCCATCCTCAGAGAAAACTTAACTCATCGCCATGGGCAGGTGAGTTGTATTCCTCTAGACTTTTTTCAACATTCTGTATCTTTCTTGAGCACCGAGGCTAGAGATGTTTGCTATTTGATTTTATTTTGGTACGAGTAATGAGTTATTTTCAAAGTGATCTTTAAATAAGGAGTGTCTCCTACCAAGGCAACGCTGACAGAGGGAATCTTAATGGCAGAAACCACTTTACTAATAAGAAATGCAAATTCACCTGGAATCTACTTAAGAAAAACAACGTATATAATATGGCTCAAAAACCAAGAAAATGAAAAAGGCAATGAACATGGTTTTTCCTCATTTACCACTTAAAAATTTTTAAGGAATATTATTATTCTCCTTAAGTCCTACATTTCTTTAAGTGCCTTTTCAAATTGTGCACCATTTTTACAGGCAGGTGCTGACGGGTGCAAACAATCAGCTCGAATTGTTTATAATACACATTTCTTACCTGATACTCATACTCTGTGAAAGGCAATAGTTCGGAATCTATAAAAGATGTTGAGCTTCCGTTATAGATTAGGACTGGATTGGATTTTCTAGGCTGAGTTGCTATTTGTCTTCTGTATAATACAAAACTTTTCCATTTGGCTGCAGCGGTCCTGTCCACAAAAGAGAAACAGTTGGCTGGAATCCTCCTGGAGCCATTTGTACCTCCAGATGTGGAGGGGGTTGCATCAAAGGTGCAATCTCAGGGGTCTGTATGAATGTCCAGTCACTTGATGCACATCCCAGGGTGGTGCACGCTTGAATTCGTATTTCATACCTTCAGGACATAAGGCAGAAATTAGTGATTTTCAGCAAAATAGATTTTCATGGGAAGAATCTTTAAAACACCAGGCCTTAAAAAAAAAAGACAAGCTTACATGTATTCTTATTCACAGCTAATTCTTAAGAATAACAAAGTTGAGAATGGCTTGAACCTGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCCGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAATTATATTTCCATGGAAATTTTTGAACAATCAAAATCCCCCTGGCTTTCTAAACTAAAGTTCCTGATCTGTTCGAAAGGGGTGAGTGCAATTCTTCCCCTAAACAAGGATGTATGGAATAAATAACTCTCAAGATTCTTTCCGGCATGAAAATTCTGGTACTCTTCAGAATTACTTAACATAGCAATGAAGAATGCAGACCTTAGAAAGTATGAAGCAGTTCTCAGCAGTCCTGGACTCCTACCTTTGCAGCTAGAGCTAAATGATCCCTCAGGAATGTTTCCAGGTCATGAAGGAACATCATGGAATGATCCCCCAGGAATGTTTCCAGGTCATGAAGGAACATCATGGAATTACGGTCTCAGTGGTAATAAATCCCCTCACCTGATACCTAACAGCTTAAAACAGCCTCCCTTACATGATACAAAGACCTTGCGGGGCCAAAGTTAACCCAACTACACACCAGATTATCAATCATGAAGACACCTTATCACCATCCAGTTAAATTCAACTAATCAATTATGTTTTGCCTCATAGCTGGTCTCTGCTACTTGAAAAGGTCTATTTACATAGCAGGGACTTCTCCTTTCCAACAAAATGAGTTTTTGTGAGTATTTAGTGCCTATGGCTGTAAATGAGCACTTTTTTCTCTATTCCCAACCACCATTGATTTTATGACACCTTCAATTTTCCCGCAGGCACCCAGCTATCTTCTTTCTACCTTTATTCCTTTTAGTTCTAGCCTTTTCCTCTTCTATTTTCTACCTCCCCTCTTTGCTCTTTGAATCACTGCTTTCTGTTCTTGTACATGTTCTGTCTCTTCCACCTTTTTGCTTTCTTAATTACACCTTTTTCCCTTTGTGACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAATCCACTAAAAACAAAAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTCACATTCTTAAATATCCTTGCAATTTATCAGATAAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGAGCAAATTGATATGGTTTTTGAAAGTTGGAGGTACAGTCAGGTAAAGAGGAAGCCAGTCTAGAATATACAGCTCTGCAGCTACAGTGGACCTTTTTAATGCCCTGAATCAGTGTAAGGTAATATAAAAGCCAACTCACATAGCATGTGGATTAGCTGCAGAGGATNNNNNNN
|
pathogenic
| 21,883
|
Assess the variant on chromosome 1, position 215671119, impacting USH2A (usherin): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A']
|
ACTGGAATGAGACTTCCACAGATCATGTGACCAGAATTTAACCCAATGACACAACACAATACCAGAGAAAGTTTGTGTTTCTTATATATGGGTCATTAAGTTGCGTTTAATTAGCGGCTGAAGATTTTATGCTGATTTCATCCAGCTCTCTCACGAAGGTACCATTTTTATTTGTAAGGGAGACTAGATAACTGACAGCTTGATAACGTGACACTTCTCAATAAAGGTAATGAGAAAAGAACAAAAGGGCAGGCACGTAGGTTCTGGCTGTTTCTAACAGTGTTACGTTTCCGATGGTGGCATCGGTAAGTATTTTGTTCCTTTATGACATAAACCACAATTCTTATCCTAAACCCTTGGGGGCCTGATGTGTTTTAAAATAATTTTGTTTTTAGATTTTGAAATAGGATAAAATGTATATACTGTATATTTTGTAATATCCATACCATGATCTGATTAGCCATCTTATAATAAAGCAATATTTTTGTAGCAAAACATATAAATATTCATATTAAATGGGATAAATAAATACTGTAAATAGTCTCAAGTCTGTTTAGATTGGGTTTTGTTGCCAAATGACTTGTGGTAAAGCAAGAAAATACTTTTAAGAGATTTTTAGACTTGGAATTGCAAACAAGGGATTATGGATTTATATCTGTGTATTTTTCCAAACCATTCGAGAATTTATTTATATTTTTAAATCTTATTAATTCGGTAATTTGTCCCATACATTATTGTCCTAAAATATTCTTTTCATGCTTAAAATGTTCCCTGTATTCACTGTACTCATTGATTTGGTCACTATCTTTTTGGTGACTTATTATTTTTAGTATTTCATGTTATAATAAGCTTTTTAAGGCTCAGTTTCCTCTTTTAGAAAATTTCTGTTGGCATTGTTCCTGGCACTTAAGTGCTTACATCAGTCAGTAAGCTTTCTTTGACTGCAAGCAAGAGGCACTGATTCTGACTTAAGCAAATGAGAATTTACTGTGAGTTTATGGAATTAAAAGAACGGTTGAAGAACCATGCTTGGAAATAGCAGGGAAAAGAAAAACTTTTAGATTGAGGTTAGGGATATTTTATCACGACTTCTCACCTCCACCTTTTAAAATTCTGAGTCACTCTGCTGAAGATCAAGCCCCAGGCAAATCTGAGGGGCTGAGCGGCTCATGTGCCCACCACTTGGCTAGAAGACAGCCTGACACATTGATTGACACTCCCACCACGCCTGAGCAAAGGGTGGGGGAAGCACATTCTCCCACAGGAAATGAGGTTGTTATCACAAGAAGAATGCAAATGGACTCTGATGGCAAAACAAAACAAACCTAACAGAAGTCCTCCACAGAATTCACCATATTTTCTGAATATTATTCTTAATTCTTGGCTTTTTAAGAATGCAGTCTTATTTTTTTAGGCCATCCTCAGAGAAAACTTAACTCATCGCCATGGGCAGGTGAGTTGTATTCCTCTAGACTTTTTTCAACATTCTGTATCTTTCTTGAGCACCGAGGCTAGAGATGTTTGCTATTTGATTTTATTTTGGTACGAGTAATGAGTTATTTTCAAAGTGATCTTTAAATAAGGAGTGTCTCCTACCAAGGCAACGCTGACAGAGGGAATCTTAATGGCAGAAACCACTTTACTAATAAGAAATGCAAATTCACCTGGAATCTACTTAAGAAAAACAACGTATATAATATGGCTCAAAAACCAAGAAAATGAAAAAGGCAATGAACATGGTTTTTCCTCATTTACCACTTAAAAATTTTTAAGGAATATTATTATTCTCCTTAAGTCCTACATTTCTTTAAGTGCCTTTTCAAATTGTGCACCATTTTTACAGGCAGGTGCTGACGGGTGCAAACAATCAGCTCGAATTGTTTATAATACACATTTCTTACCTGATACTCATACTCTGTGAAAGGCAATAGTTCGGAATCTATAAAAGATGTTGAGCTTCCGTTATAGATTAGGACTGGATTGGATTTTCTAGGCTGAGTTGCTATTTGTCTTCTGTATAATTCGTAATACAAAACTTTTCCATTTGGCTGCAGCGGTCCTGTCCACAAAAGAGAAACAGTTGGCTGGAATCCTCCTGGAGCCATTTGTACCTCCAGATGTGGAGGGGGTTGCATCAAAGGTGCAATCTCAGGGGTCTGTATGAATGTCCAGTCACTTGATGCACATCCCAGGGTGGTGCACGCTTGAATTCGTATTTCATACCTTCAGGACATAAGGCAGAAATTAGTGATTTTCAGCAAAATAGATTTTCATGGGAAGAATCTTTAAAACACCAGGCCTTAAAAAAAAAAGACAAGCTTACATGTATTCTTATTCACAGCTAATTCTTAAGAATAACAAAGTTGAGAATGGCTTGAACCTGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCCGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAATTATATTTCCATGGAAATTTTTGAACAATCAAAATCCCCCTGGCTTTCTAAACTAAAGTTCCTGATCTGTTCGAAAGGGGTGAGTGCAATTCTTCCCCTAAACAAGGATGTATGGAATAAATAACTCTCAAGATTCTTTCCGGCATGAAAATTCTGGTACTCTTCAGAATTACTTAACATAGCAATGAAGAATGCAGACCTTAGAAAGTATGAAGCAGTTCTCAGCAGTCCTGGACTCCTACCTTTGCAGCTAGAGCTAAATGATCCCTCAGGAATGTTTCCAGGTCATGAAGGAACATCATGGAATGATCCCCCAGGAATGTTTCCAGGTCATGAAGGAACATCATGGAATTACGGTCTCAGTGGTAATAAATCCCCTCACCTGATACCTAACAGCTTAAAACAGCCTCCCTTACATGATACAAAGACCTTGCGGGGCCAAAGTTAACCCAACTACACACCAGATTATCAATCATGAAGACACCTTATCACCATCCAGTTAAATTCAACTAATCAATTATGTTTTGCCTCATAGCTGGTCTCTGCTACTTGAAAAGGTCTATTTACATAGCAGGGACTTCTCCTTTCCAACAAAATGAGTTTTTGTGAGTATTTAGTGCCTATGGCTGTAAATGAGCACTTTTTTCTCTATTCCCAACCACCATTGATTTTATGACACCTTCAATTTTCCCGCAGGCACCCAGCTATCTTCTTTCTACCTTTATTCCTTTTAGTTCTAGCCTTTTCCTCTTCTATTTTCTACCTCCCCTCTTTGCTCTTTGAATCACTGCTTTCTGTTCTTGTACATGTTCTGTCTCTTCCACCTTTTTGCTTTCTTAATTACACCTTTTTCCCTTTGTGACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAATCCACTAAAAACAAAAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTCACATTCTTAAATATCCTTGCAATTTATCAGATAAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGAGCAAATTGATATGGTTTTTGAAAGTTGGAGGTACAGTCAGGTAAAGAGGAAGCCAGTCTAGAATATACAGCTCTGCAGCTACAGTGGACCTTTTTAATGCCCTGAATCAGTGTAAGGTAATATAAAAGCCAACTCACATAGCATGTGGATTAGCTGCAGAGGATACCTGAGGAAGTTTTAATTACTGTTTAATAT
|
ACTGGAATGAGACTTCCACAGATCATGTGACCAGAATTTAACCCAATGACACAACACAATACCAGAGAAAGTTTGTGTTTCTTATATATGGGTCATTAAGTTGCGTTTAATTAGCGGCTGAAGATTTTATGCTGATTTCATCCAGCTCTCTCACGAAGGTACCATTTTTATTTGTAAGGGAGACTAGATAACTGACAGCTTGATAACGTGACACTTCTCAATAAAGGTAATGAGAAAAGAACAAAAGGGCAGGCACGTAGGTTCTGGCTGTTTCTAACAGTGTTACGTTTCCGATGGTGGCATCGGTAAGTATTTTGTTCCTTTATGACATAAACCACAATTCTTATCCTAAACCCTTGGGGGCCTGATGTGTTTTAAAATAATTTTGTTTTTAGATTTTGAAATAGGATAAAATGTATATACTGTATATTTTGTAATATCCATACCATGATCTGATTAGCCATCTTATAATAAAGCAATATTTTTGTAGCAAAACATATAAATATTCATATTAAATGGGATAAATAAATACTGTAAATAGTCTCAAGTCTGTTTAGATTGGGTTTTGTTGCCAAATGACTTGTGGTAAAGCAAGAAAATACTTTTAAGAGATTTTTAGACTTGGAATTGCAAACAAGGGATTATGGATTTATATCTGTGTATTTTTCCAAACCATTCGAGAATTTATTTATATTTTTAAATCTTATTAATTCGGTAATTTGTCCCATACATTATTGTCCTAAAATATTCTTTTCATGCTTAAAATGTTCCCTGTATTCACTGTACTCATTGATTTGGTCACTATCTTTTTGGTGACTTATTATTTTTAGTATTTCATGTTATAATAAGCTTTTTAAGGCTCAGTTTCCTCTTTTAGAAAATTTCTGTTGGCATTGTTCCTGGCACTTAAGTGCTTACATCAGTCAGTAAGCTTTCTTTGACTGCAAGCAAGAGGCACTGATTCTGACTTAAGCAAATGAGAATTTACTGTGAGTTTATGGAATTAAAAGAACGGTTGAAGAACCATGCTTGGAAATAGCAGGGAAAAGAAAAACTTTTAGATTGAGGTTAGGGATATTTTATCACGACTTCTCACCTCCACCTTTTAAAATTCTGAGTCACTCTGCTGAAGATCAAGCCCCAGGCAAATCTGAGGGGCTGAGCGGCTCATGTGCCCACCACTTGGCTAGAAGACAGCCTGACACATTGATTGACACTCCCACCACGCCTGAGCAAAGGGTGGGGGAAGCACATTCTCCCACAGGAAATGAGGTTGTTATCACAAGAAGAATGCAAATGGACTCTGATGGCAAAACAAAACAAACCTAACAGAAGTCCTCCACAGAATTCACCATATTTTCTGAATATTATTCTTAATTCTTGGCTTTTTAAGAATGCAGTCTTATTTTTTTAGGCCATCCTCAGAGAAAACTTAACTCATCGCCATGGGCAGGTGAGTTGTATTCCTCTAGACTTTTTTCAACATTCTGTATCTTTCTTGAGCACCGAGGCTAGAGATGTTTGCTATTTGATTTTATTTTGGTACGAGTAATGAGTTATTTTCAAAGTGATCTTTAAATAAGGAGTGTCTCCTACCAAGGCAACGCTGACAGAGGGAATCTTAATGGCAGAAACCACTTTACTAATAAGAAATGCAAATTCACCTGGAATCTACTTAAGAAAAACAACGTATATAATATGGCTCAAAAACCAAGAAAATGAAAAAGGCAATGAACATGGTTTTTCCTCATTTACCACTTAAAAATTTTTAAGGAATATTATTATTCTCCTTAAGTCCTACATTTCTTTAAGTGCCTTTTCAAATTGTGCACCATTTTTACAGGCAGGTGCTGACGGGTGCAAACAATCAGCTCGAATTGTTTATAATACACATTTCTTACCTGATACTCATACTCTGTGAAAGGCAATAGTTCGGAATCTATAAAAGATGTTGAGCTTCCGTTATAGATTAGGACTGGATTGGATTTTCTAGGCTGAGTTGCTATTTGTCTTCTGTATAATTCGTAATACAAAACTTTTCCATTTGGCGCAGCGGTCCTGTCCACAAAAGAGAAACAGTTGGCTGGAATCCTCCTGGAGCCATTTGTACCTCCAGATGTGGAGGGGGTTGCATCAAAGGTGCAATCTCAGGGGTCTGTATGAATGTCCAGTCACTTGATGCACATCCCAGGGTGGTGCACGCTTGAATTCGTATTTCATACCTTCAGGACATAAGGCAGAAATTAGTGATTTTCAGCAAAATAGATTTTCATGGGAAGAATCTTTAAAACACCAGGCCTTAAAAAAAAAAGACAAGCTTACATGTATTCTTATTCACAGCTAATTCTTAAGAATAACAAAGTTGAGAATGGCTTGAACCTGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCCGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAATTATATTTCCATGGAAATTTTTGAACAATCAAAATCCCCCTGGCTTTCTAAACTAAAGTTCCTGATCTGTTCGAAAGGGGTGAGTGCAATTCTTCCCCTAAACAAGGATGTATGGAATAAATAACTCTCAAGATTCTTTCCGGCATGAAAATTCTGGTACTCTTCAGAATTACTTAACATAGCAATGAAGAATGCAGACCTTAGAAAGTATGAAGCAGTTCTCAGCAGTCCTGGACTCCTACCTTTGCAGCTAGAGCTAAATGATCCCTCAGGAATGTTTCCAGGTCATGAAGGAACATCATGGAATGATCCCCCAGGAATGTTTCCAGGTCATGAAGGAACATCATGGAATTACGGTCTCAGTGGTAATAAATCCCCTCACCTGATACCTAACAGCTTAAAACAGCCTCCCTTACATGATACAAAGACCTTGCGGGGCCAAAGTTAACCCAACTACACACCAGATTATCAATCATGAAGACACCTTATCACCATCCAGTTAAATTCAACTAATCAATTATGTTTTGCCTCATAGCTGGTCTCTGCTACTTGAAAAGGTCTATTTACATAGCAGGGACTTCTCCTTTCCAACAAAATGAGTTTTTGTGAGTATTTAGTGCCTATGGCTGTAAATGAGCACTTTTTTCTCTATTCCCAACCACCATTGATTTTATGACACCTTCAATTTTCCCGCAGGCACCCAGCTATCTTCTTTCTACCTTTATTCCTTTTAGTTCTAGCCTTTTCCTCTTCTATTTTCTACCTCCCCTCTTTGCTCTTTGAATCACTGCTTTCTGTTCTTGTACATGTTCTGTCTCTTCCACCTTTTTGCTTTCTTAATTACACCTTTTTCCCTTTGTGACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAATCCACTAAAAACAAAAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTCACATTCTTAAATATCCTTGCAATTTATCAGATAAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGAGCAAATTGATATGGTTTTTGAAAGTTGGAGGTACAGTCAGGTAAAGAGGAAGCCAGTCTAGAATATACAGCTCTGCAGCTACAGTGGACCTTTTTAATGCCCTGAATCAGTGTAAGGTAATATAAAAGCCAACTCACATAGCATGTGGATTAGCTGCAGAGGATACCTGAGGAAGTTTTAATTACTGTTTAATATN
|
pathogenic
| 21,884
|
A genetic variant on chromosome 1, position 215671206, affects the gene USH2A (usherin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A']
|
ATGGGTCATTAAGTTGCGTTTAATTAGCGGCTGAAGATTTTATGCTGATTTCATCCAGCTCTCTCACGAAGGTACCATTTTTATTTGTAAGGGAGACTAGATAACTGACAGCTTGATAACGTGACACTTCTCAATAAAGGTAATGAGAAAAGAACAAAAGGGCAGGCACGTAGGTTCTGGCTGTTTCTAACAGTGTTACGTTTCCGATGGTGGCATCGGTAAGTATTTTGTTCCTTTATGACATAAACCACAATTCTTATCCTAAACCCTTGGGGGCCTGATGTGTTTTAAAATAATTTTGTTTTTAGATTTTGAAATAGGATAAAATGTATATACTGTATATTTTGTAATATCCATACCATGATCTGATTAGCCATCTTATAATAAAGCAATATTTTTGTAGCAAAACATATAAATATTCATATTAAATGGGATAAATAAATACTGTAAATAGTCTCAAGTCTGTTTAGATTGGGTTTTGTTGCCAAATGACTTGTGGTAAAGCAAGAAAATACTTTTAAGAGATTTTTAGACTTGGAATTGCAAACAAGGGATTATGGATTTATATCTGTGTATTTTTCCAAACCATTCGAGAATTTATTTATATTTTTAAATCTTATTAATTCGGTAATTTGTCCCATACATTATTGTCCTAAAATATTCTTTTCATGCTTAAAATGTTCCCTGTATTCACTGTACTCATTGATTTGGTCACTATCTTTTTGGTGACTTATTATTTTTAGTATTTCATGTTATAATAAGCTTTTTAAGGCTCAGTTTCCTCTTTTAGAAAATTTCTGTTGGCATTGTTCCTGGCACTTAAGTGCTTACATCAGTCAGTAAGCTTTCTTTGACTGCAAGCAAGAGGCACTGATTCTGACTTAAGCAAATGAGAATTTACTGTGAGTTTATGGAATTAAAAGAACGGTTGAAGAACCATGCTTGGAAATAGCAGGGAAAAGAAAAACTTTTAGATTGAGGTTAGGGATATTTTATCACGACTTCTCACCTCCACCTTTTAAAATTCTGAGTCACTCTGCTGAAGATCAAGCCCCAGGCAAATCTGAGGGGCTGAGCGGCTCATGTGCCCACCACTTGGCTAGAAGACAGCCTGACACATTGATTGACACTCCCACCACGCCTGAGCAAAGGGTGGGGGAAGCACATTCTCCCACAGGAAATGAGGTTGTTATCACAAGAAGAATGCAAATGGACTCTGATGGCAAAACAAAACAAACCTAACAGAAGTCCTCCACAGAATTCACCATATTTTCTGAATATTATTCTTAATTCTTGGCTTTTTAAGAATGCAGTCTTATTTTTTTAGGCCATCCTCAGAGAAAACTTAACTCATCGCCATGGGCAGGTGAGTTGTATTCCTCTAGACTTTTTTCAACATTCTGTATCTTTCTTGAGCACCGAGGCTAGAGATGTTTGCTATTTGATTTTATTTTGGTACGAGTAATGAGTTATTTTCAAAGTGATCTTTAAATAAGGAGTGTCTCCTACCAAGGCAACGCTGACAGAGGGAATCTTAATGGCAGAAACCACTTTACTAATAAGAAATGCAAATTCACCTGGAATCTACTTAAGAAAAACAACGTATATAATATGGCTCAAAAACCAAGAAAATGAAAAAGGCAATGAACATGGTTTTTCCTCATTTACCACTTAAAAATTTTTAAGGAATATTATTATTCTCCTTAAGTCCTACATTTCTTTAAGTGCCTTTTCAAATTGTGCACCATTTTTACAGGCAGGTGCTGACGGGTGCAAACAATCAGCTCGAATTGTTTATAATACACATTTCTTACCTGATACTCATACTCTGTGAAAGGCAATAGTTCGGAATCTATAAAAGATGTTGAGCTTCCGTTATAGATTAGGACTGGATTGGATTTTCTAGGCTGAGTTGCTATTTGTCTTCTGTATAATTCGTAATACAAAACTTTTCCATTTGGCTGCAGCGGTCCTGTCCACAAAAGAGAAACAGTTGGCTGGAATCCTCCTGGAGCCATTTGTACCTCCAGATGTGGAGGGGGTTGCATCAAAGGTGCAATCTCAGGGGTCTGTATGAATGTCCAGTCACTTGATGCACATCCCAGGGTGGTGCACGCTTGAATTCGTATTTCATACCTTCAGGACATAAGGCAGAAATTAGTGATTTTCAGCAAAATAGATTTTCATGGGAAGAATCTTTAAAACACCAGGCCTTAAAAAAAAAAGACAAGCTTACATGTATTCTTATTCACAGCTAATTCTTAAGAATAACAAAGTTGAGAATGGCTTGAACCTGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCCGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAATTATATTTCCATGGAAATTTTTGAACAATCAAAATCCCCCTGGCTTTCTAAACTAAAGTTCCTGATCTGTTCGAAAGGGGTGAGTGCAATTCTTCCCCTAAACAAGGATGTATGGAATAAATAACTCTCAAGATTCTTTCCGGCATGAAAATTCTGGTACTCTTCAGAATTACTTAACATAGCAATGAAGAATGCAGACCTTAGAAAGTATGAAGCAGTTCTCAGCAGTCCTGGACTCCTACCTTTGCAGCTAGAGCTAAATGATCCCTCAGGAATGTTTCCAGGTCATGAAGGAACATCATGGAATGATCCCCCAGGAATGTTTCCAGGTCATGAAGGAACATCATGGAATTACGGTCTCAGTGGTAATAAATCCCCTCACCTGATACCTAACAGCTTAAAACAGCCTCCCTTACATGATACAAAGACCTTGCGGGGCCAAAGTTAACCCAACTACACACCAGATTATCAATCATGAAGACACCTTATCACCATCCAGTTAAATTCAACTAATCAATTATGTTTTGCCTCATAGCTGGTCTCTGCTACTTGAAAAGGTCTATTTACATAGCAGGGACTTCTCCTTTCCAACAAAATGAGTTTTTGTGAGTATTTAGTGCCTATGGCTGTAAATGAGCACTTTTTTCTCTATTCCCAACCACCATTGATTTTATGACACCTTCAATTTTCCCGCAGGCACCCAGCTATCTTCTTTCTACCTTTATTCCTTTTAGTTCTAGCCTTTTCCTCTTCTATTTTCTACCTCCCCTCTTTGCTCTTTGAATCACTGCTTTCTGTTCTTGTACATGTTCTGTCTCTTCCACCTTTTTGCTTTCTTAATTACACCTTTTTCCCTTTGTGACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAATCCACTAAAAACAAAAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTCACATTCTTAAATATCCTTGCAATTTATCAGATAAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGAGCAAATTGATATGGTTTTTGAAAGTTGGAGGTACAGTCAGGTAAAGAGGAAGCCAGTCTAGAATATACAGCTCTGCAGCTACAGTGGACCTTTTTAATGCCCTGAATCAGTGTAAGGTAATATAAAAGCCAACTCACATAGCATGTGGATTAGCTGCAGAGGATACCTGAGGAAGTTTTAATTACTGTTTAATATTTAATAGACCCTAAATAATTGTCATGAGTAGATGCATAAAACCACGAATGTTTCATTTCAACAGCACTATATATCAGAGGTAATTAT
|
ATGGGTCATTAAGTTGCGTTTAATTAGCGGCTGAAGATTTTATGCTGATTTCATCCAGCTCTCTCACGAAGGTACCATTTTTATTTGTAAGGGAGACTAGATAACTGACAGCTTGATAACGTGACACTTCTCAATAAAGGTAATGAGAAAAGAACAAAAGGGCAGGCACGTAGGTTCTGGCTGTTTCTAACAGTGTTACGTTTCCGATGGTGGCATCGGTAAGTATTTTGTTCCTTTATGACATAAACCACAATTCTTATCCTAAACCCTTGGGGGCCTGATGTGTTTTAAAATAATTTTGTTTTTAGATTTTGAAATAGGATAAAATGTATATACTGTATATTTTGTAATATCCATACCATGATCTGATTAGCCATCTTATAATAAAGCAATATTTTTGTAGCAAAACATATAAATATTCATATTAAATGGGATAAATAAATACTGTAAATAGTCTCAAGTCTGTTTAGATTGGGTTTTGTTGCCAAATGACTTGTGGTAAAGCAAGAAAATACTTTTAAGAGATTTTTAGACTTGGAATTGCAAACAAGGGATTATGGATTTATATCTGTGTATTTTTCCAAACCATTCGAGAATTTATTTATATTTTTAAATCTTATTAATTCGGTAATTTGTCCCATACATTATTGTCCTAAAATATTCTTTTCATGCTTAAAATGTTCCCTGTATTCACTGTACTCATTGATTTGGTCACTATCTTTTTGGTGACTTATTATTTTTAGTATTTCATGTTATAATAAGCTTTTTAAGGCTCAGTTTCCTCTTTTAGAAAATTTCTGTTGGCATTGTTCCTGGCACTTAAGTGCTTACATCAGTCAGTAAGCTTTCTTTGACTGCAAGCAAGAGGCACTGATTCTGACTTAAGCAAATGAGAATTTACTGTGAGTTTATGGAATTAAAAGAACGGTTGAAGAACCATGCTTGGAAATAGCAGGGAAAAGAAAAACTTTTAGATTGAGGTTAGGGATATTTTATCACGACTTCTCACCTCCACCTTTTAAAATTCTGAGTCACTCTGCTGAAGATCAAGCCCCAGGCAAATCTGAGGGGCTGAGCGGCTCATGTGCCCACCACTTGGCTAGAAGACAGCCTGACACATTGATTGACACTCCCACCACGCCTGAGCAAAGGGTGGGGGAAGCACATTCTCCCACAGGAAATGAGGTTGTTATCACAAGAAGAATGCAAATGGACTCTGATGGCAAAACAAAACAAACCTAACAGAAGTCCTCCACAGAATTCACCATATTTTCTGAATATTATTCTTAATTCTTGGCTTTTTAAGAATGCAGTCTTATTTTTTTAGGCCATCCTCAGAGAAAACTTAACTCATCGCCATGGGCAGGTGAGTTGTATTCCTCTAGACTTTTTTCAACATTCTGTATCTTTCTTGAGCACCGAGGCTAGAGATGTTTGCTATTTGATTTTATTTTGGTACGAGTAATGAGTTATTTTCAAAGTGATCTTTAAATAAGGAGTGTCTCCTACCAAGGCAACGCTGACAGAGGGAATCTTAATGGCAGAAACCACTTTACTAATAAGAAATGCAAATTCACCTGGAATCTACTTAAGAAAAACAACGTATATAATATGGCTCAAAAACCAAGAAAATGAAAAAGGCAATGAACATGGTTTTTCCTCATTTACCACTTAAAAATTTTTAAGGAATATTATTATTCTCCTTAAGTCCTACATTTCTTTAAGTGCCTTTTCAAATTGTGCACCATTTTTACAGGCAGGTGCTGACGGGTGCAAACAATCAGCTCGAATTGTTTATAATACACATTTCTTACCTGATACTCATACTCTGTGAAAGGCAATAGTTCGGAATCTATAAAAGATGTTGAGCTTCCGTTATAGATTAGGACTGGATTGGATTTTCTAGGCTGAGTTGCTATTTGTCTTCTGTATAATTCGTAATACAAAACTTTTCCATTTGGCTGCAGCGGTCCTGTCCACAAAAGAGAAACAGTTGGCTGGAATCCTCCTGGAGCCATTTGTACCTCCAGATGTGGAGGGGGTTGCATCAAGGTGCAATCTCAGGGGTCTGTATGAATGTCCAGTCACTTGATGCACATCCCAGGGTGGTGCACGCTTGAATTCGTATTTCATACCTTCAGGACATAAGGCAGAAATTAGTGATTTTCAGCAAAATAGATTTTCATGGGAAGAATCTTTAAAACACCAGGCCTTAAAAAAAAAAGACAAGCTTACATGTATTCTTATTCACAGCTAATTCTTAAGAATAACAAAGTTGAGAATGGCTTGAACCTGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCCGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAATTATATTTCCATGGAAATTTTTGAACAATCAAAATCCCCCTGGCTTTCTAAACTAAAGTTCCTGATCTGTTCGAAAGGGGTGAGTGCAATTCTTCCCCTAAACAAGGATGTATGGAATAAATAACTCTCAAGATTCTTTCCGGCATGAAAATTCTGGTACTCTTCAGAATTACTTAACATAGCAATGAAGAATGCAGACCTTAGAAAGTATGAAGCAGTTCTCAGCAGTCCTGGACTCCTACCTTTGCAGCTAGAGCTAAATGATCCCTCAGGAATGTTTCCAGGTCATGAAGGAACATCATGGAATGATCCCCCAGGAATGTTTCCAGGTCATGAAGGAACATCATGGAATTACGGTCTCAGTGGTAATAAATCCCCTCACCTGATACCTAACAGCTTAAAACAGCCTCCCTTACATGATACAAAGACCTTGCGGGGCCAAAGTTAACCCAACTACACACCAGATTATCAATCATGAAGACACCTTATCACCATCCAGTTAAATTCAACTAATCAATTATGTTTTGCCTCATAGCTGGTCTCTGCTACTTGAAAAGGTCTATTTACATAGCAGGGACTTCTCCTTTCCAACAAAATGAGTTTTTGTGAGTATTTAGTGCCTATGGCTGTAAATGAGCACTTTTTTCTCTATTCCCAACCACCATTGATTTTATGACACCTTCAATTTTCCCGCAGGCACCCAGCTATCTTCTTTCTACCTTTATTCCTTTTAGTTCTAGCCTTTTCCTCTTCTATTTTCTACCTCCCCTCTTTGCTCTTTGAATCACTGCTTTCTGTTCTTGTACATGTTCTGTCTCTTCCACCTTTTTGCTTTCTTAATTACACCTTTTTCCCTTTGTGACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAATCCACTAAAAACAAAAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTCACATTCTTAAATATCCTTGCAATTTATCAGATAAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGAGCAAATTGATATGGTTTTTGAAAGTTGGAGGTACAGTCAGGTAAAGAGGAAGCCAGTCTAGAATATACAGCTCTGCAGCTACAGTGGACCTTTTTAATGCCCTGAATCAGTGTAAGGTAATATAAAAGCCAACTCACATAGCATGTGGATTAGCTGCAGAGGATACCTGAGGAAGTTTTAATTACTGTTTAATATTTAATAGACCCTAAATAATTGTCATGAGTAGATGCATAAAACCACGAATGTTTCATTTCAACAGCACTATATATCAGAGGTAATTATN
|
pathogenic
| 21,887
|
Evaluate if the mutation on chromosome 1 at position 215674168 in USH2A (usherin) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Retinitis_pigmentosa_39']
|
CTTTCCAACAAAATGAGTTTTTGTGAGTATTTAGTGCCTATGGCTGTAAATGAGCACTTTTTTCTCTATTCCCAACCACCATTGATTTTATGACACCTTCAATTTTCCCGCAGGCACCCAGCTATCTTCTTTCTACCTTTATTCCTTTTAGTTCTAGCCTTTTCCTCTTCTATTTTCTACCTCCCCTCTTTGCTCTTTGAATCACTGCTTTCTGTTCTTGTACATGTTCTGTCTCTTCCACCTTTTTGCTTTCTTAATTACACCTTTTTCCCTTTGTGACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAATCCACTAAAAACAAAAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTCACATTCTTAAATATCCTTGCAATTTATCAGATAAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGAGCAAATTGATATGGTTTTTGAAAGTTGGAGGTACAGTCAGGTAAAGAGGAAGCCAGTCTAGAATATACAGCTCTGCAGCTACAGTGGACCTTTTTAATGCCCTGAATCAGTGTAAGGTAATATAAAAGCCAACTCACATAGCATGTGGATTAGCTGCAGAGGATACCTGAGGAAGTTTTAATTACTGTTTAATATTTAATAGACCCTAAATAATTGTCATGAGTAGATGCATAAAACCACGAATGTTTCATTTCAACAGCACTATATATCAGAGGTAATTATAGGAGGATCTAATCTACACATCACTAGATTACAATAATAGCTGAATTTTACCTGAGGTAGTTGGAAATCAACACTCTTTCAGCCTTTAATTTTTTTAAGTGATTCTGTTCATTTTACTAAATTTTAAGCATAAAATGTCTCTTATTACCCTTCTCTCTGGGGATGTAAGTTACTTAAAATGTGATGGGGAAAACTGCCAAACAATTATTTAAACAATGGGCAAGATTCTTTTGTGTGGAGAACAACGCACTTCCATGCATGTCACAGAGCCCAGATGGGACCGCTAGGAAAACATGAGCTAGCAAAGTGGCACTGTCCTGAGAAACCATAAGAAAGTAGAGTCAGAGAAGCCTTATTATTCCTGGAAGAAGTGCTGGATTTGATAAGAAGGCTCTTCACGAAACAAATTTTGTTTTAGTCTAACTCTGGCTGGTAATTGCGCTCATTGATTGGCACTTTTTAACCTTAAAATAATACATCATTTTCTTCACAGTCTGGCCAGATGACCCTATCGGGGCTGTCAGAACTGTCCAGGGGCCTGCGTATTTCCAGGGGGACTAGCCTCATCTCTGTCCTACTTATTTCAGATACCAGGATGCATTGCAAACCTTTCTGAAACACTGACTCTCAAAACATCACCTGAAAGAATTCTGCTCTCTGGAGGTTATGCAAGCAGGCTTTGCTTGGGTGAGGATGTGCTTTGTCTACTATGCACGTTTAGGTGGATGGAGGTTGGGGACACCTTGCATCCCATTTTTAGAGTCTTCATTAGAACTGACCAAGGGCTCAGGCAATAGAAAGGTCAGCAGTGGCTTACTCTCAGAAAACCGAGACATGGCTACCTACCTGTGAAATGGCTTCAGCTGGTTTACTATATATGACTGCATACCAAAAGAATTATGAGTTGTGTTTATGTGTATGATTTTAGTTTCTCTTTCAAATAGTTCACGGATGAAGAGGGTATAATTGATGATATCACCATTTGTTCTCACTGGAGGGTCCCAGTTCACTAAGATCTCCTGAGGACCCCTGGCCTGCAATTTTGGAGGTTCCATCCCTGAGGGTGCTGAGGGGCTGGTTCGATCTTTGACAAGAGGACTCAAAATACCCCCTTGGCTGTTGCTGGCAGTTACTGTGTAGCTATACTCCACACCTGGGGTGAGAGTAAAATCACGATAGCGTGTTTCCAAGCCTGTATATACAATGGTTCCATCCCTCCTAAGTTCATAACTTCTGATCTGGCCATTTGGGTTTCTTGGAGGTTTCCAGGTGATTTCTATTGATTCTGAGCCTGTGACTTGCAATGTTGGAGAGTCCATGTTCTCTGGCAGGGCCTCCATTGTCCAGGCAGATTTTGACACACTAGCTGTGCAACCTCCATTCGTGCAGGCTACAAGGGAGAAGTTATACTGAGAGTAAGGCTGCAGGTGGGAAACCAGCAGGCACAGGCCCTGGCCAGCAAGGGACTCTTTATTATCATATCTAACTAAATATTTAGTAATCTTTCCATTTTGCACTGTGGGCGGTGACCAACATACATTCATTTGAGTGGCACTGACGGCCCAAAGATCTGGAGGGCTGACTTCTGATGGAGCAGCCTCCAGAGTTGTGATGCTGGTGGGTTTGCTGGTGGAGCATCCTCCACTCGTGCAGGCTTGGAGTGCATAGCTATAGGTGGAAAAAGGAAGAAGCTCTTCATCAGTGTAATTGAAAGTCACAGGATCAAAGCTAAAAGGATAGAGCATTTCATTCCTTTGAAGCCTATAGGACTGGATAATACCATTAGACTGTTCTGGTGGGATCCAGGAAATCAGCAGTTTTTGGGGATTCATAGAAACATAGGATATCACAGGTGGAGAGAGACCTTCTGGAGGTGCTTGCAATGTCCTCACCACATTCCAAGAGCTACAGGTATGCCCAGCTGAATTCCAAGTGTAGATTTTATATTCACACTGCGTCCATGGTTGCAAACCTGTGTCATTATACATAAATGTATTCCTTTCAGTGTTATATTCTGTGAAAACAATTTTCTCGTCGGCCTGGATTGTCTGATTTCCCCAAGCTTTTCCCTCGAAGCATCTGCGAATCACTTCATAGCGAATTATTTTTCCATTTGGGTTAACAGGCTCAGACCAGCTCAGCTCAACACTGGTGGACTTCACAGAGTGGACAGTAGGAGCCAGCTGAGAGTCTGGAGGGGCTTCATCTGTCCACAGAGGCTGAGGCGCCGAGTGTGCACAACCTGCTCTGGTGCAGGCCTCCAGGGTCAGTGTGTAGAGAGTGAAAGGATCCAGGCGGCGGAAGAGAAACTGACGATTCAAACCAGAGTACTCCAGGAACCCGTCACTGAAGATGTTGTATGTCTACAGAAGGACAGAAGCAAAAGGGATAACTTGCAGCATACAATTTCTTTGTGTAGTTACTTAGCCCCTTTTTAACCTTCACCCCCTTGTTCCTTATTTTGATGACCCTAATTTAGAAGAAGTATTCTGATATTAATTGGGGATATGTGATTTTTTTCAGTTAACATAAGGCCCACAGAGAGACAAACAATGTTTTTCTTTGCCTTTTTCTTTTCTTTTTTTTCAGTTTGGGAACTACATAAACATTTATCTCAAAACTAAGGGCTATTGAATCAGATTCTTTGACTTAAATGGTATTCACAAGGTTTCTCCTATTTGTATTTTTTTAAAGTAGAGAATAGTATTAAAGTCTCCTGTTTTATGGATATGAACTGCTTCTGATCTCATACTGACTAAAGTAGGGTCTACCTTCCACGGCATTTGCTGGGAAATGGAATTACAACGCTTAATCATTTGTTGTTACAGAGTGCCAGGGCTGAAAGAGTATGCTTGTGTGTGTGTGTGTTTAGGCACACAGACACCTATATTTTATACATAAGTACAAATATCCATACATATATATACATGTACATATATACATGTATATAAATCTTTATGAC
|
CTTTCCAACAAAATGAGTTTTTGTGAGTATTTAGTGCCTATGGCTGTAAATGAGCACTTTTTTCTCTATTCCCAACCACCATTGATTTTATGACACCTTCAATTTTCCCGCAGGCACCCAGCTATCTTCTTTCTACCTTTATTCCTTTTAGTTCTAGCCTTTTCCTCTTCTATTTTCTACCTCCCCTCTTTGCTCTTTGAATCACTGCTTTCTGTTCTTGTACATGTTCTGTCTCTTCCACCTTTTTGCTTTCTTAATTACACCTTTTTCCCTTTGTGACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAATCCACTAAAAACAAAAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTCACATTCTTAAATATCCTTGCAATTTATCAGATAAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGAGCAAATTGATATGGTTTTTGAAAGTTGGAGGTACAGTCAGGTAAAGAGGAAGCCAGTCTAGAATATACAGCTCTGCAGCTACAGTGGACCTTTTTAATGCCCTGAATCAGTGTAAGGTAATATAAAAGCCAACTCACATAGCATGTGGATTAGCTGCAGAGGATACCTGAGGAAGTTTTAATTACTGTTTAATATTTAATAGACCCTAAATAATTGTCATGAGTAGATGCATAAAACCACGAATGTTTCATTTCAACAGCACTATATATCAGAGGTAATTATAGGAGGATCTAATCTACACATCACTAGATTACAATAATAGCTGAATTTTACCTGAGGTAGTTGGAAATCAACACTCTTTCAGCCTTTAATTTTTTTAAGTGATTCTGTTCATTTTACTAAATTTTAAGCATAAAATGTCTCTTATTACCCTTCTCTCTGGGGATGTAAGTTACTTAAAATGTGATGGGGAAAACTGCCAAACAATTATTTAAACAATGGGCAAGATTCTTTTGTGTGGAGAACAACGCACTTCCATGCATGTCACAGAGCCCAGATGGGACCGCTAGGAAAACATGAGCTAGCAAAGTGGCACTGTCCTGAGAAACCATAAGAAAGTAGAGTCAGAGAAGCCTTATTATTCCTGGAAGAAGTGCTGGATTTGATAAGAAGGCTCTTCACGAAACAAATTTTGTTTTAGTCTAACTCTGGCTGGTAATTGCGCTCATTGATTGGCACTTTTTAACCTTAAAATAATACATCATTTTCTTCACAGTCTGGCCAGATGACCCTATCGGGGCTGTCAGAACTGTCCAGGGGCCTGCGTATTTCCAGGGGGACTAGCCTCATCTCTGTCCTACTTATTTCAGATACCAGGATGCATTGCAAACCTTTCTGAAACACTGACTCTCAAAACATCACCTGAAAGAATTCTGCTCTCTGGAGGTTATGCAAGCAGGCTTTGCTTGGGTGAGGATGTGCTTTGTCTACTATGCACGTTTAGGTGGATGGAGGTTGGGGACACCTTGCATCCCATTTTTAGAGTCTTCATTAGAACTGACCAAGGGCTCAGGCAATAGAAAGGTCAGCAGTGGCTTACTCTCAGAAAACCGAGACATGGCTACCTACCTGTGAAATGGCTTCAGCTGGTTTACTATATATGACTGCATACCAAAAGAATTATGAGTTGTGTTTATGGTATGATTTTAGTTTCTCTTTCAAATAGTTCACGGATGAAGAGGGTATAATTGATGATATCACCATTTGTTCTCACTGGAGGGTCCCAGTTCACTAAGATCTCCTGAGGACCCCTGGCCTGCAATTTTGGAGGTTCCATCCCTGAGGGTGCTGAGGGGCTGGTTCGATCTTTGACAAGAGGACTCAAAATACCCCCTTGGCTGTTGCTGGCAGTTACTGTGTAGCTATACTCCACACCTGGGGTGAGAGTAAAATCACGATAGCGTGTTTCCAAGCCTGTATATACAATGGTTCCATCCCTCCTAAGTTCATAACTTCTGATCTGGCCATTTGGGTTTCTTGGAGGTTTCCAGGTGATTTCTATTGATTCTGAGCCTGTGACTTGCAATGTTGGAGAGTCCATGTTCTCTGGCAGGGCCTCCATTGTCCAGGCAGATTTTGACACACTAGCTGTGCAACCTCCATTCGTGCAGGCTACAAGGGAGAAGTTATACTGAGAGTAAGGCTGCAGGTGGGAAACCAGCAGGCACAGGCCCTGGCCAGCAAGGGACTCTTTATTATCATATCTAACTAAATATTTAGTAATCTTTCCATTTTGCACTGTGGGCGGTGACCAACATACATTCATTTGAGTGGCACTGACGGCCCAAAGATCTGGAGGGCTGACTTCTGATGGAGCAGCCTCCAGAGTTGTGATGCTGGTGGGTTTGCTGGTGGAGCATCCTCCACTCGTGCAGGCTTGGAGTGCATAGCTATAGGTGGAAAAAGGAAGAAGCTCTTCATCAGTGTAATTGAAAGTCACAGGATCAAAGCTAAAAGGATAGAGCATTTCATTCCTTTGAAGCCTATAGGACTGGATAATACCATTAGACTGTTCTGGTGGGATCCAGGAAATCAGCAGTTTTTGGGGATTCATAGAAACATAGGATATCACAGGTGGAGAGAGACCTTCTGGAGGTGCTTGCAATGTCCTCACCACATTCCAAGAGCTACAGGTATGCCCAGCTGAATTCCAAGTGTAGATTTTATATTCACACTGCGTCCATGGTTGCAAACCTGTGTCATTATACATAAATGTATTCCTTTCAGTGTTATATTCTGTGAAAACAATTTTCTCGTCGGCCTGGATTGTCTGATTTCCCCAAGCTTTTCCCTCGAAGCATCTGCGAATCACTTCATAGCGAATTATTTTTCCATTTGGGTTAACAGGCTCAGACCAGCTCAGCTCAACACTGGTGGACTTCACAGAGTGGACAGTAGGAGCCAGCTGAGAGTCTGGAGGGGCTTCATCTGTCCACAGAGGCTGAGGCGCCGAGTGTGCACAACCTGCTCTGGTGCAGGCCTCCAGGGTCAGTGTGTAGAGAGTGAAAGGATCCAGGCGGCGGAAGAGAAACTGACGATTCAAACCAGAGTACTCCAGGAACCCGTCACTGAAGATGTTGTATGTCTACAGAAGGACAGAAGCAAAAGGGATAACTTGCAGCATACAATTTCTTTGTGTAGTTACTTAGCCCCTTTTTAACCTTCACCCCCTTGTTCCTTATTTTGATGACCCTAATTTAGAAGAAGTATTCTGATATTAATTGGGGATATGTGATTTTTTTCAGTTAACATAAGGCCCACAGAGAGACAAACAATGTTTTTCTTTGCCTTTTTCTTTTCTTTTTTTTCAGTTTGGGAACTACATAAACATTTATCTCAAAACTAAGGGCTATTGAATCAGATTCTTTGACTTAAATGGTATTCACAAGGTTTCTCCTATTTGTATTTTTTTAAAGTAGAGAATAGTATTAAAGTCTCCTGTTTTATGGATATGAACTGCTTCTGATCTCATACTGACTAAAGTAGGGTCTACCTTCCACGGCATTTGCTGGGAAATGGAATTACAACGCTTAATCATTTGTTGTTACAGAGTGCCAGGGCTGAAAGAGTATGCTTGTGTGTGTGTGTGTTTAGGCACACAGACACCTATATTTTATACATAAGTACAAATATCCATACATATATATACATGTACATATATACATGTATATAAATCTTTATGACN
|
pathogenic
| 21,898
|
Subsets and Splits
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