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
|
---|---|---|---|---|---|
A genetic variant on chromosome X, position 64920232, affects the gene ZC4H2 (zinc finger C4H2-type containing). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Inborn_genetic_diseases', 'Wieacker-Wolff_syndrome']
|
ACTTAAGGACTATTTAATTTTCTAGAACAGGGGTCAACAAACATTTTCTGTAAAGGCCAGGACAGCAAATACTTTAGACTTTTTACATCATATAAACTTGCTGCAACTACTCAATTCTGTTTTGCATGAAAGAAGTGATAGACAATAGCTTGCATGCATGTTGTTTGCAATAGCTTGCAAACACAGACATGCATGTGGGCCAATAAAACTTTAACGAAAACAGGGAACAGATTAGATTTGACCTGTAGGCTGTAATTTGATGACCCCTGCTCTAGAAGAATGTCTCTTTGTTTGACTATTTACCAATTGATTAGGACCCAGGCTCTGTGATGTTACACTGATAAGCTGCAAATGGCTTTTGCCCAGTAGAGATGCAAATTACTTCTGTTTGGAAGAAAAAGTAACTATAAAGTTACAGTTTTATTGTCCTGTGGGATGTAAACCAGTTTTGCATCTAACTTTGCAAATTTGTTTCAGCCTTCCTCTCCTTTCTTGACTATATAGATATTTGTTCCAAATGCTCCTGGAACCAGCTTTATAATCCTGCTGGTTCCCTCATTTATGATACATGCTCATTACATCTTTGTGTAAGAGTCATTTCTAACTTTTAGAATTGCACTCTAGCAGGGCCTGAAAATCTCCCTGCATTCTAACACCTCTGGGAACATGGGGCAACAAAACCTGTGCTGTGTGTGTCCAACACAGCACACCCATGTCACCCCTTCCACTGTGTCACAAGCAAAGGCCATTAAAAGAAGGCCCAGCATAAATAAAGCCAAAGACCCAGAACTAGCCTTCCACGGCCCTTCCATGGGAGGATACTTTGCTTCCTCCACAACCATTACCCAGCTCACTTACCTTCATAGGTGGGGGCTGCTGCCTGAAGGTGGCCGTCTGCCGAGTATCCTGCTTCCTAGCCACTTGGAGCTGTTGGGCGGCAGCGGCTGCAGCGGCCAGGGACTCAGGGATGGGGGGCTCCTGAGGTTCTGTCTGCCATTCTGCTTTCTGCTTCTCAAAGTAACTTTGGAGATGAGAGACACTGGCTAGATCATTCTGAAAGCAATGAGAACCTTGCTCCTCTTAAAGACTCCATGCCATACAACCAAGGGTTGAGCTGTGGCTCATTCTAGAAGGTCCCCACACCTTCCCAAGCACAAGGCTATTGTCCCTGGGTACTAGGCCCAATGTCTGATGAGAAGGGTAATCCTCTTTGTCCTTAGCTCTGATAGGCCAAGAAGACCAAGAAATCTTAGGGCTAGCAAGATCCTTAAAGGGTATTCAGTCCTATCTGCTATCTCATGCTCTTTTGAGTATTCCTATTAAGTGTCCTAAGGCCTCTGGTGACATATCTCTAAGAGTAGGAAGCTCACAAACTCCACAGACACCTTGCTCTACCTTTAGGAAATGATTTCCTCTACCAGGTCAAATTCTGTCTCTCTGCAAGGCAAGCCTAGTTCTTAACTCTGAGCCAGGAGATGAAGTAAGTCCCAGGCCACTTCCTGAAGACCAGGAAAGCTCAGTCTTTTTTGTTTTTAGAGGTTTCTAGATATCGCCTTCTAGACCCTGACTTGGGAAATGATCTCTTAAGAGTTATAGACATAGTCTTGTATTGTCAATATCACACAAAGAATTTAAAAAGCCACCTAGTAGTTGTTCTAATTCATCTAGTAATTCATCCAGTTTAATAATCCTCCTTCTGTTTTAACAAGCTGGCACAGAGACTTGCCCAAGATCACACAGTGAGTAAGCCACTGAAAGGCCTGGGACTAAAACTAGGCACTCTGACTTTCAGGCTAGGCTTTGTGTATGTATACCTGCCCGTGTGTGTGTAGGTATGTAAGTATGTATGTGGGTCGGAGGGAGGGTATGTTGTAGGGACTGGGGGCAGGTAGCTTACTCCAAGGAAAGCTTCTCCTCTTCTTCACACAAGTCAGGGAGCCTCTGCAGGCCCAGAGTCATGCGCAGGGCATCCACATGTTCTTTCAGTGGCTTATACTCATCATGCAGCCTCCTTGTAGACTCTAGCAGCTTGTTTAGGTCATTCTCAGATTGTTTGATAGTGTTTTCCATCTGGAACATAGAGTGGGATAGGCACAGAGAAAAGATCCTAAGGTTCTCAGAGAGGATCTATAGCTGAGTGAATAATAGCACAAGCTCCAGAACTTGTTCAGTCTATATTCAAGTCCTTGATCTCCCATGCCCTCTCCATGTAACTCTGGTCAAGTCTCAGTTTCTTCATCGGTATAATGGTGATATTCTAGTGCTTAACTCATGCAATCTTGGTGAAGATGTAATGATAGGATTCATATAAAGCACTCAGTAAATGGGCTAAATTAATATTTACTGCTAAATAAATGGTATTGTTCAAATATAGTATCTTAGAGCTGGAATGTCCTTCAGAGCTCATTTAGTCCACCTTACTCCCATTTTATAGAAAACTGAGGCTCAAAGAGAAAAAGGGACTTTCCTGGGGAAATACTTCTTAGTATCAAATCCTGCATAAAGACTTAGGGCTTCCGCCTCCCAGGCCAGCAGTCTTTTCTCCTAGATCAGTGATTCTCAAAATGTGGCCAAGGGATCAGCAGCATCAGCATCACCTGGGAACTCAGAAATGCATATTCTTAGGTTCACCTCAGACATACAAAATCAGAAAATCAGGGGTGGAGTCTAGCAATATGTGTCTTAGGCTCTCAAAGTGGCTTTGATGCATGCTCAAGTTTGAGATCCACTGGCTTATATTCTTAGCCCTTCTGGCAAATATCTTCCTCATTTAACTGGCCCTGTATCATTGGTTAGCTGGCAGCCAAACTGTCAACACTTTATGAGATCTAGAATTCTGCGATCTCTAACACAGAAAATCCCAATTGCTTACTGTCCAAACCTCATTCATATTTCCTTTATGATCCTAGGTCTGACAACATCAGAAAATGAGTATTGCCACAGAAATGAGTTTTCCAGAAATATAAACTTAGTTCCTTTGAAAGTAAATTTTAAAAATATATTCTTCATGGTTATGGGTGATAAGGGTTTGAAAAGACCTTACTGGTCAGCACTGCCAACCTCCTTCCTTGTGAAGGAATCATCAGTACAGTAGCTCATACAAGTGTCCATTAAGATGCTGCTTGAATAATTCCAAAGAGGGGAGCTTACCACCTTAGCAGACAGTTCATATTCTGTGTTCCAAGAGTTTCCAAAGGATATATCAATGAGGAAGCTCCACTTTGGTAGCAGGCAGAAATGATTTGTTTGGTCTGACTGAAAGCTTGGAGTGCTTTAAACTACATTCCAGAGGCAGCTGCCTGCTCTGCTTTTCCCCAAGGCTAGCTCTCAACTCCCAGAATCCCAGAATGAGAGCACATCAAATCAGTACATTTAGAGGGTACTGAGTCCCCCTTATAGTGCAGAGAGGGAAAATGAGGCCCAGAGAGAAGGGACTTGTCCAGTGATATATAGTCAGTTAGTGACAGAGCCAGGGCTGGATCTCAGAACTCCTGAATTCTTCTGCTCTACCACAGCCTGCACTGATGCCTGCTCCCCGAGCTAGGCCTAAGCCACATCTCAAGGAAAGGCCCTATCATTCACCACTACCTCTTTCTCAAAGGCTTTAGAGATAGGCTCCAGGCAGCCACGTACCACATTGATGTCAGCGTGGATCAGTCGGAGTTCCTCCACATGGGCCATCTTCTCCTGTAGCAGAAGGTCCATCTCCTGCTTGTATTCCTTCAGGTGCCTTTCCTCTGACTCAAGTGCCTCAAACTCAGCCTTCAAACGAGCCTTGATCTTCTCCATCTGCAGGGTCTTGTTCCTGCAATTTGCAAAAAGCAGGAAACAGGCCAGCAAAAGAAGGGAGAAAATAGAAATGGAGCCAGGACTTTTTTTCTAAGCCATCTTTACAAGCTTCCCCCTCTCCAGGCAGAGCCAACCTGAGGCCATCTCAAAAAAGAAGGCCAGGTGCAATGGCTCATGCCAGTAATCTCAGCAATTTGGAAGACAGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAAACCAGCATGGGCAACATAGTGAGACCTTATATCTACAAAAAAAAAAAAGAAAAAGAAAAAAGAAAAAA
|
ACTTAAGGACTATTTAATTTTCTAGAACAGGGGTCAACAAACATTTTCTGTAAAGGCCAGGACAGCAAATACTTTAGACTTTTTACATCATATAAACTTGCTGCAACTACTCAATTCTGTTTTGCATGAAAGAAGTGATAGACAATAGCTTGCATGCATGTTGTTTGCAATAGCTTGCAAACACAGACATGCATGTGGGCCAATAAAACTTTAACGAAAACAGGGAACAGATTAGATTTGACCTGTAGGCTGTAATTTGATGACCCCTGCTCTAGAAGAATGTCTCTTTGTTTGACTATTTACCAATTGATTAGGACCCAGGCTCTGTGATGTTACACTGATAAGCTGCAAATGGCTTTTGCCCAGTAGAGATGCAAATTACTTCTGTTTGGAAGAAAAAGTAACTATAAAGTTACAGTTTTATTGTCCTGTGGGATGTAAACCAGTTTTGCATCTAACTTTGCAAATTTGTTTCAGCCTTCCTCTCCTTTCTTGACTATATAGATATTTGTTCCAAATGCTCCTGGAACCAGCTTTATAATCCTGCTGGTTCCCTCATTTATGATACATGCTCATTACATCTTTGTGTAAGAGTCATTTCTAACTTTTAGAATTGCACTCTAGCAGGGCCTGAAAATCTCCCTGCATTCTAACACCTCTGGGAACATGGGGCAACAAAACCTGTGCTGTGTGTGTCCAACACAGCACACCCATGTCACCCCTTCCACTGTGTCACAAGCAAAGGCCATTAAAAGAAGGCCCAGCATAAATAAAGCCAAAGACCCAGAACTAGCCTTCCACGGCCCTTCCATGGGAGGATACTTTGCTTCCTCCACAACCATTACCCAGCTCACTTACCTTCATAGGTGGGGGCTGCTGCCTGAAGGTGGCCGTCTGCCGAGTATCCTGCTTCCTAGCCACTTGGAGCTGTTGGGCGGCAGCGGCTGCAGCGGCCAGGGACTCAGGGATGGGGGGCTCCTGAGGTTCTGTCTGCCATTCTGCTTTCTGCTTCTCAAAGTAACTTTGGAGATGAGAGACACTGGCTAGATCATTCTGAAAGCAATGAGAACCTTGCTCCTCTTAAAGACTCCATGCCATACAACCAAGGGTTGAGCTGTGGCTCATTCTAGAAGGTCCCCACACCTTCCCAAGCACAAGGCTATTGTCCCTGGGTACTAGGCCCAATGTCTGATGAGAAGGGTAATCCTCTTTGTCCTTAGCTCTGATAGGCCAAGAAGACCAAGAAATCTTAGGGCTAGCAAGATCCTTAAAGGGTATTCAGTCCTATCTGCTATCTCATGCTCTTTTGAGTATTCCTATTAAGTGTCCTAAGGCCTCTGGTGACATATCTCTAAGAGTAGGAAGCTCACAAACTCCACAGACACCTTGCTCTACCTTTAGGAAATGATTTCCTCTACCAGGTCAAATTCTGTCTCTCTGCAAGGCAAGCCTAGTTCTTAACTCTGAGCCAGGAGATGAAGTAAGTCCCAGGCCACTTCCTGAAGACCAGGAAAGCTCAGTCTTTTTTGTTTTTAGAGGTTTCTAGATATCGCCTTCTAGACCCTGACTTGGGAAATGATCTCTTAAGAGTTATAGACATAGTCTTGTATTGTCAATATCACACAAAGAATTTAAAAAGCCACCTAGTAGTTGTTCTAATTCATCTAGTAATTCATCCAGTTTAATAATCCTCCTTCTGTTTTAACAAGCTGGCACAGAGACTTGCCCAAGATCACACAGTGAGTAAGCCACTGAAAGGCCTGGGACTAAAACTAGGCACTCTGACTTTCAGGCTAGGCTTTGTGTATGTATACCTGCCCGTGTGTGTGTAGGTATGTAAGTATGTATGTGGGTCGGAGGGAGGGTATGTTGTAGGGACTGGGGGCAGGTAGCTTACTCCAAGGAAAGCTTCTCCTCTTCTTCACACAAGTCAGGGAGCCTCTGCAGGCCCAGAGTCATGCGCAGGGCATCCACATGTTCTTTCAGTGGCTTATACTCATCATGCAGCCTCCTTGTAGACTCTAGCAGCTTGTTTAGGTCATTCTCAGATTGATAGTGTTTTCCATCTGGAACATAGAGTGGGATAGGCACAGAGAAAAGATCCTAAGGTTCTCAGAGAGGATCTATAGCTGAGTGAATAATAGCACAAGCTCCAGAACTTGTTCAGTCTATATTCAAGTCCTTGATCTCCCATGCCCTCTCCATGTAACTCTGGTCAAGTCTCAGTTTCTTCATCGGTATAATGGTGATATTCTAGTGCTTAACTCATGCAATCTTGGTGAAGATGTAATGATAGGATTCATATAAAGCACTCAGTAAATGGGCTAAATTAATATTTACTGCTAAATAAATGGTATTGTTCAAATATAGTATCTTAGAGCTGGAATGTCCTTCAGAGCTCATTTAGTCCACCTTACTCCCATTTTATAGAAAACTGAGGCTCAAAGAGAAAAAGGGACTTTCCTGGGGAAATACTTCTTAGTATCAAATCCTGCATAAAGACTTAGGGCTTCCGCCTCCCAGGCCAGCAGTCTTTTCTCCTAGATCAGTGATTCTCAAAATGTGGCCAAGGGATCAGCAGCATCAGCATCACCTGGGAACTCAGAAATGCATATTCTTAGGTTCACCTCAGACATACAAAATCAGAAAATCAGGGGTGGAGTCTAGCAATATGTGTCTTAGGCTCTCAAAGTGGCTTTGATGCATGCTCAAGTTTGAGATCCACTGGCTTATATTCTTAGCCCTTCTGGCAAATATCTTCCTCATTTAACTGGCCCTGTATCATTGGTTAGCTGGCAGCCAAACTGTCAACACTTTATGAGATCTAGAATTCTGCGATCTCTAACACAGAAAATCCCAATTGCTTACTGTCCAAACCTCATTCATATTTCCTTTATGATCCTAGGTCTGACAACATCAGAAAATGAGTATTGCCACAGAAATGAGTTTTCCAGAAATATAAACTTAGTTCCTTTGAAAGTAAATTTTAAAAATATATTCTTCATGGTTATGGGTGATAAGGGTTTGAAAAGACCTTACTGGTCAGCACTGCCAACCTCCTTCCTTGTGAAGGAATCATCAGTACAGTAGCTCATACAAGTGTCCATTAAGATGCTGCTTGAATAATTCCAAAGAGGGGAGCTTACCACCTTAGCAGACAGTTCATATTCTGTGTTCCAAGAGTTTCCAAAGGATATATCAATGAGGAAGCTCCACTTTGGTAGCAGGCAGAAATGATTTGTTTGGTCTGACTGAAAGCTTGGAGTGCTTTAAACTACATTCCAGAGGCAGCTGCCTGCTCTGCTTTTCCCCAAGGCTAGCTCTCAACTCCCAGAATCCCAGAATGAGAGCACATCAAATCAGTACATTTAGAGGGTACTGAGTCCCCCTTATAGTGCAGAGAGGGAAAATGAGGCCCAGAGAGAAGGGACTTGTCCAGTGATATATAGTCAGTTAGTGACAGAGCCAGGGCTGGATCTCAGAACTCCTGAATTCTTCTGCTCTACCACAGCCTGCACTGATGCCTGCTCCCCGAGCTAGGCCTAAGCCACATCTCAAGGAAAGGCCCTATCATTCACCACTACCTCTTTCTCAAAGGCTTTAGAGATAGGCTCCAGGCAGCCACGTACCACATTGATGTCAGCGTGGATCAGTCGGAGTTCCTCCACATGGGCCATCTTCTCCTGTAGCAGAAGGTCCATCTCCTGCTTGTATTCCTTCAGGTGCCTTTCCTCTGACTCAAGTGCCTCAAACTCAGCCTTCAAACGAGCCTTGATCTTCTCCATCTGCAGGGTCTTGTTCCTGCAATTTGCAAAAAGCAGGAAACAGGCCAGCAAAAGAAGGGAGAAAATAGAAATGGAGCCAGGACTTTTTTTCTAAGCCATCTTTACAAGCTTCCCCCTCTCCAGGCAGAGCCAACCTGAGGCCATCTCAAAAAAGAAGGCCAGGTGCAATGGCTCATGCCAGTAATCTCAGCAATTTGGAAGACAGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAAACCAGCATGGGCAACATAGTGAGACCTTATATCTACAAAAAAAAAAAAGAAAAAGAAAAAAGAAAAAANNNN
|
pathogenic
| 335,212 |
Variant in ZC4H2 (zinc finger C4H2-type containing), chromosome X, position 64976354—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Wieacker-Wolff_syndrome']
|
CTGAGATTTTCTACATTATCATTTGTTTCAAGTGTATTGTAACTGCTCACTGAAATGTTTTTAGGACAGGTGCTTTAAGATCCTTATCAGATAATTCTAACATGGGTGTTATCTCAGTATTGGCATCTGTTTATTTTCTCTTCTCATTCAAGTGGATATCTTAGTATGGAAAGTGATTTTTGATTAAAAGTTGGATACTCTGGATCTTATTTAAATCTTTTGTTTTAGCAGTCCTCTACCACTCTCTTGGATGGAAGAGGGACAGTAGAAGTCCAGTTTCTCCACTGTCTCTTGACATCCAGTTTGGAGAAGGGCTGTTTGTTACTGCTGTTTAGAGGTGAAAGTTTGGCCTTCTCTCTGGGCCTATGCTGATTCCATCCTAGCTGGTTGAGGTAGAAACTCCTAGTTACCACTGGTAAGGGTAGAAGTCATGGTTCTCCATATGGTCTTCACTGGGAGAGGTCTATTTTCACTGGGGATTAAAGTCCTTGCTCACAACTGGTCCTTCTCTGGGCATGGGGTGGTGGTTCCTTTGAAGCTTGGTGAGAGTGGAAGTCTAGGCTCTCCATTTGCAAGCCTAAGCTTCTGACTAGCTGCATCGTTATGACAGCTGGCATTCTACTGTACTAAGGTGTCTCACTTTCTAGCTAGCTTCTGATGCTTTTGCCAAAAAAAAAAAAAAAAAAAAAAAAAATTGCAACATATTCCCTTCTCCTTTCCAGACTTTACCTGGGACATAGTGGGAAAAGGAATACCTTTGCAGGCAGACCAACAAAATGTGGCAATTTCAAGCTGCGTGGCTGTGGGAAAATCACTCAAATTCTCTGGGCCTCTATTTCCCCAGCTGTAAAGGAGGAGTAGGAAGCTCACAGGACTCTTGCTGAATGAGCAAAAGTAGGTCAAAGGGCCTGGCACACAGGGGCGGGAAGGGACTCAATAAATGATAGTTCCCTTCCTTTACCTCTCCTGTAGAAAGAGAGATGCAACCCCTCAAGAAGAAGAAGAAACCAAGGTGCTTTACCTACCACCACTAATCACCATGTGTAGGTCTCATCCAGCACTCTAAGGGTTAAATCTCATGATCAAAGTCTTATTTCTTAAAGAAACACACTTGACATCTTCCACCTTGGGTTCTCAGAAAACACTCCAGGGAGAGAGCTTGACCCAGGCCACTCTCAGAGTGAGAGCAAAAGCCAAAGCAGGGGCTCACGCTGAGAAGGCGAGGTGAAGAAAGACCTTGTGCCAGCCCACACAGCCCGCCTGGCGCTATTGTGTTCTGAGCAAGGACAATATCATCGCTTTGCCAAAAGCTGCTCCAGGAGCAACCGTGTAGCGGACTCCACTTCGGCAACTCCCACTTTGCCAGCCCGCCTGTCACCTCCAGCTCCTCAGAGCAGCTGTCGCGATCCCACCATCAGCGCAGCGACCGCGTCCCCAGTCCCCATTGCTCCCATCCCCCTCCCAAGCGCGGGATAGGAAGGAAGAAAGTGGCGAGTGAGTGAAAGGAAAACGAGCGCGCGCCATTCTCCCAGCTCCGCCCGCTGAGATTCCTCTGCAACCCCCAGTTGGCAGCCCCTGGCAGCAGCCACCAGCCCCGATGCGCTAGACTTGGCTCTCAAAAGCCTTTCCCGAACTCCAGGTTCTGAAGTTGAACAAGAGACTGGAAAAAAATCCCGACTCCTAAAGAGCAAGGAGCCAAAGACACCTTGGGGCACACAAGTACTTTTAAAAAACGTGTCCATGAATGCAGAGCCCTGACCTCCACCTCGAGAAGAATAAAACTGTCTTGGTACCAAACCCGTGTTTCTTCATCTTTGCTTTCTCAGCCACATCTGGCAAGAGGTCTCTCTCTCTCTCAACTCTCCTCAGCGCCCCTCCCATCCTCACCTCTCCGGCAAGTCTGTGGTGAATGGGCCCCTTTCCAGCTCCTCTAGACAAACAGCCCAACAATAGATAATTAGCCCTCTCCCGCAACGAAGGGTTGGAGAGGGGCGGGGAGGGGGACAACGTGCCACTTACCTGATCTCTTTAATGCTTTCCAATTTGCACATGATTTCTTGCTCATCTGCCATACTTTTCACTGTCAATTTCACGTCCCGAGAGATGTACAAATACACCAGCCAAGGGATACAATAGACACAATGTAGCCACCTCCTCCGGGCTTGGGGCTATGAGCCTGTGCGGTAGGGGCTTGGAGAGGCCTGGGAGCTGTAGTCCGGAGCTTCAGGGCCAGCCAGGAAGCCCGGGGGCCTGTAGGACTACAACTCCCAGAAGGCCAAGCGAGACATGCCTGTTTCCCTTCCTGCAGCCGCACTTTAAATCAATTTGTTATAGATAATTATGTCAAAGGTTGTGAAGAGTGCAAAGGAATGGGGATATTCGTCTGGCCCGTGTGTGGGAAAATGGAGAAAAAAATATTCCTGAAGGCAATTGGAGAGATGAGAGACATACCCATTCGCTCCCTTCGGGGGCCCTCGCACCTACCCACCCGCAAAAGATTAGCGGTAGTCGCTAATTACGCCTTGGGGATGGAAAGAAACCCTGCAGGGAAAGTAGCTTTGGAGACGTTGAATGTGCTAGCTGCTGCCTGGGGACCAGTAACTTTGGCATTCAATTTAGGGTGGGGCGGGGGTGGGGAAGAGGAGGATGGGAGGAGGGAGATGCTGCAAAAGCTGGGGGAAAGGAGAGTGGGTAAGTACTTCCAGCTACTTACCCATTCAACAAACAATTACTTAAGCTCGGACTTTGCCAGTCAATGGAAGAAGTACTGTAGGAGTCACCGGGCAAGGCAGATAAATAAAAGCAAATCCTTGCCTTTGAGGAACAGAAGAGGCTGAAAATTTACCTATTAATTACAGTACAGTGTGGTGTCAAAATACAGGAATAGATAAGGTGTAACCTGTGCAGAGAAGATGTAAATAGGTCTCAAGAGTGACTAAGAATTTGTCAGACCATAGAGGAGAATGGGCTCTCCAGGTGAGGATACAATAGAGAGAGAAAGGAAAGGATGAGTGGTTCAGAGTGCCTGAAATATAGGTTTCTTATATGAGGTGTAGAGGTGGAAAAAAGAAATGGGAGATGTAGTATTTAGAAAAGGCAGGTAGGAACCAGACTATGAAATACGTTAAATGTCAGACTAAAGGGTTTGGACTTAATCCTGTAGGCAGACATTTATCTAATAAACTTTTAAATTAATTAATTTATTTATTTATGAGACAGTCTCACTCTGTCGCCCAAGCTGGCGTGTAATGGCACAGATCTCGGCCCACTGCAACCTCCTTCTCCTGGGTTCAAGCAATTCTACTGCCTCAGCCTCCCGAGTAACTGGGATTACAGGCGCCCACCCACCATGCCCGGCTAATTTTTGTATTTCTTAGTAGAGATGGAGTTTCATCATGTTGGCCAGACTGGTCTTGAACTCCTGAGCTCAAGCAATCCACCCGCCTCAGCCTCCCAAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCTAATAAACATTTTTTAAGTGCTTATTCTGCACCAAGTAATGTTTAATTATTTTATGTTTCAAAGCACGGTAGTGATAAGGATGGAGGAATATTTTAGAGAGGGACTCTGGAAGCAAAGTGGAGAATGATTAGAGGACATGAGACCAGGTAAGAGGCAGTTACTCAGCGTGCACAAACAGGCCTAGAGAGCTGGACGTTGGGCAAAAGGAAGATGGTGACTCACTCCCAACTAAAAGTGAGTCAGAACTCTCTCTGAGTTTGTGCTTTCTTTTATTGAGCTTCAGTTTCCTCATCTGAAAAATGTACCTAGTGAGCCCACCTCAGAGGCTTGTTGGGAGGCCTCTATGAGATCATTCCCATGATCATGCTGAATACAGGGCTTGGTATTTTGTAGGAGCTTGAGAAGTTTGTGGAACATGAATCTCATGTCATTCTGGATGTCCACAGTGATTTTAAGCATTCTCCAGGGAAGAAATTAAAGCCCTTCTCTTCTTTGGATCCAAGATGTAATAACTTTCTTAACCATAAAATTCTCCCTGGTGTCTACATTTTCCTATTGTCTTGAAGGTTGCTATCTTGTACAGCCACTAGTTGGTATT
|
CTGAGATTTTCTACATTATCATTTGTTTCAAGTGTATTGTAACTGCTCACTGAAATGTTTTTAGGACAGGTGCTTTAAGATCCTTATCAGATAATTCTAACATGGGTGTTATCTCAGTATTGGCATCTGTTTATTTTCTCTTCTCATTCAAGTGGATATCTTAGTATGGAAAGTGATTTTTGATTAAAAGTTGGATACTCTGGATCTTATTTAAATCTTTTGTTTTAGCAGTCCTCTACCACTCTCTTGGATGGAAGAGGGACAGTAGAAGTCCAGTTTCTCCACTGTCTCTTGACATCCAGTTTGGAGAAGGGCTGTTTGTTACTGCTGTTTAGAGGTGAAAGTTTGGCCTTCTCTCTGGGCCTATGCTGATTCCATCCTAGCTGGTTGAGGTAGAAACTCCTAGTTACCACTGGTAAGGGTAGAAGTCATGGTTCTCCATATGGTCTTCACTGGGAGAGGTCTATTTTCACTGGGGATTAAAGTCCTTGCTCACAACTGGTCCTTCTCTGGGCATGGGGTGGTGGTTCCTTTGAAGCTTGGTGAGAGTGGAAGTCTAGGCTCTCCATTTGCAAGCCTAAGCTTCTGACTAGCTGCATCGTTATGACAGCTGGCATTCTACTGTACTAAGGTGTCTCACTTTCTAGCTAGCTTCTGATGCTTTTGCCAAAAAAAAAAAAAAAAAAAAAAAAAATTGCAACATATTCCCTTCTCCTTTCCAGACTTTACCTGGGACATAGTGGGAAAAGGAATACCTTTGCAGGCAGACCAACAAAATGTGGCAATTTCAAGCTGCGTGGCTGTGGGAAAATCACTCAAATTCTCTGGGCCTCTATTTCCCCAGCTGTAAAGGAGGAGTAGGAAGCTCACAGGACTCTTGCTGAATGAGCAAAAGTAGGTCAAAGGGCCTGGCACACAGGGGCGGGAAGGGACTCAATAAATGATAGTTCCCTTCCTTTACCTCTCCTGTAGAAAGAGAGATGCAACCCCTCAAGAAGAAGAAGAAACCAAGGTGCTTTACCTACCACCACTAATCACCATGTGTAGGTCTCATCCAGCACTCTAAGGGTTAAATCTCATGATCAAAGTCTTATTTCTTAAAGAAACACACTTGACATCTTCCACCTTGGGTTCTCAGAAAACACTCCAGGGAGAGAGCTTGACCCAGGCCACTCTCAGAGTGAGAGCAAAAGCCAAAGCAGGGGCTCACGCTGAGAAGGCGAGGTGAAGAAAGACCTTGTGCCAGCCCACACAGCCCGCCTGGCGCTATTGTGTTCTGAGCAAGGACAATATCATCGCTTTGCCAAAAGCTGCTCCAGGAGCAACCGTGTAGCGGACTCCACTTCGGCAACTCCCACTTTGCCAGCCCGCCTGTCACCTCCAGCTCCTCAGAGCAGCTGTCGCGATCCCACCATCAGCGCAGCGACCGCGTCCCCAGTCCCCATTGCTCCCATCCCCCTCCCAAGCGCGGGATAGGAAGGAAGAAAGTGGCGAGTGAGTGAAAGGAAAACGAGCGCGCGCCATTCTCCCAGCTCCGCCCGCTGAGATTCCTCTGCAACCCCCAGTTGGCAGCCCCTGGCAGCAGCCACCAGCCCCGATGCGCTAGACTTGGCTCTCAAAAGCCTTTCCCGAACTCCAGGTTCTGAAGTTGAACAAGAGACTGGAAAAAAATCCCGACTCCTAAAGAGCAAGGAGCCAAAGACACCTTGGGGCACACAAGTACTTTTAAAAAACGTGTCCATGAATGCAGAGCCCTGACCTCCACCTCGAGAAGAATAAAACTGTCTTGGTACCAAACCCGTGTTTCTTCATCTTTGCTTTCTCAGCCACATCTGGCAAGAGGTCTCTCTCTCTCTCAACTCTCCTCAGCGCCCCTCCCATCCTCACCTCTCCGGCAAGTCTGTGGTGAATGGGCCCCTTTCCAGCTCCTCTAGACAAACAGCCCAACAATAGATAATTAGCCCTCTCCCGCAACGAAGGGTTGGAGAGGGGCGGGGAGGGGGACAACGTGCCACTTACCTGATCTCTTTAATGCTTTCCAATTTGCACGATTTCTTGCTCATCTGCCATACTTTTCACTGTCAATTTCACGTCCCGAGAGATGTACAAATACACCAGCCAAGGGATACAATAGACACAATGTAGCCACCTCCTCCGGGCTTGGGGCTATGAGCCTGTGCGGTAGGGGCTTGGAGAGGCCTGGGAGCTGTAGTCCGGAGCTTCAGGGCCAGCCAGGAAGCCCGGGGGCCTGTAGGACTACAACTCCCAGAAGGCCAAGCGAGACATGCCTGTTTCCCTTCCTGCAGCCGCACTTTAAATCAATTTGTTATAGATAATTATGTCAAAGGTTGTGAAGAGTGCAAAGGAATGGGGATATTCGTCTGGCCCGTGTGTGGGAAAATGGAGAAAAAAATATTCCTGAAGGCAATTGGAGAGATGAGAGACATACCCATTCGCTCCCTTCGGGGGCCCTCGCACCTACCCACCCGCAAAAGATTAGCGGTAGTCGCTAATTACGCCTTGGGGATGGAAAGAAACCCTGCAGGGAAAGTAGCTTTGGAGACGTTGAATGTGCTAGCTGCTGCCTGGGGACCAGTAACTTTGGCATTCAATTTAGGGTGGGGCGGGGGTGGGGAAGAGGAGGATGGGAGGAGGGAGATGCTGCAAAAGCTGGGGGAAAGGAGAGTGGGTAAGTACTTCCAGCTACTTACCCATTCAACAAACAATTACTTAAGCTCGGACTTTGCCAGTCAATGGAAGAAGTACTGTAGGAGTCACCGGGCAAGGCAGATAAATAAAAGCAAATCCTTGCCTTTGAGGAACAGAAGAGGCTGAAAATTTACCTATTAATTACAGTACAGTGTGGTGTCAAAATACAGGAATAGATAAGGTGTAACCTGTGCAGAGAAGATGTAAATAGGTCTCAAGAGTGACTAAGAATTTGTCAGACCATAGAGGAGAATGGGCTCTCCAGGTGAGGATACAATAGAGAGAGAAAGGAAAGGATGAGTGGTTCAGAGTGCCTGAAATATAGGTTTCTTATATGAGGTGTAGAGGTGGAAAAAAGAAATGGGAGATGTAGTATTTAGAAAAGGCAGGTAGGAACCAGACTATGAAATACGTTAAATGTCAGACTAAAGGGTTTGGACTTAATCCTGTAGGCAGACATTTATCTAATAAACTTTTAAATTAATTAATTTATTTATTTATGAGACAGTCTCACTCTGTCGCCCAAGCTGGCGTGTAATGGCACAGATCTCGGCCCACTGCAACCTCCTTCTCCTGGGTTCAAGCAATTCTACTGCCTCAGCCTCCCGAGTAACTGGGATTACAGGCGCCCACCCACCATGCCCGGCTAATTTTTGTATTTCTTAGTAGAGATGGAGTTTCATCATGTTGGCCAGACTGGTCTTGAACTCCTGAGCTCAAGCAATCCACCCGCCTCAGCCTCCCAAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCTAATAAACATTTTTTAAGTGCTTATTCTGCACCAAGTAATGTTTAATTATTTTATGTTTCAAAGCACGGTAGTGATAAGGATGGAGGAATATTTTAGAGAGGGACTCTGGAAGCAAAGTGGAGAATGATTAGAGGACATGAGACCAGGTAAGAGGCAGTTACTCAGCGTGCACAAACAGGCCTAGAGAGCTGGACGTTGGGCAAAAGGAAGATGGTGACTCACTCCCAACTAAAAGTGAGTCAGAACTCTCTCTGAGTTTGTGCTTTCTTTTATTGAGCTTCAGTTTCCTCATCTGAAAAATGTACCTAGTGAGCCCACCTCAGAGGCTTGTTGGGAGGCCTCTATGAGATCATTCCCATGATCATGCTGAATACAGGGCTTGGTATTTTGTAGGAGCTTGAGAAGTTTGTGGAACATGAATCTCATGTCATTCTGGATGTCCACAGTGATTTTAAGCATTCTCCAGGGAAGAAATTAAAGCCCTTCTCTTCTTTGGATCCAAGATGTAATAACTTTCTTAACCATAAAATTCTCCCTGGTGTCTACATTTTCCTATTGTCTTGAAGGTTGCTATCTTGTACAGCCACTAGTTGGTATTNN
|
pathogenic
| 335,216 |
Chromosome X, position 67545306, gene AR (androgen receptor): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
benign
|
CATACAAAGCAAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGG
|
CATACAAAGCAAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGNNN
|
benign
| 335,246 |
Evaluate if the mutation on chromosome X at position 67545316 in AR is benign or pathogenic. Disease name(s) if pathogenic?
|
benign
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCT
|
benign
| 335,248 |
Determine if the mutation at chromosome X, position 67545316 in gene AR is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
benign
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTT
|
benign
| 335,249 |
Considering the genetic mutation at chromosome X, position 67545316, impacting AR: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
benign
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGG
|
benign
| 335,250 |
Variant at chromosome X, position 67545316, gene AR: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
benign
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAAC
|
benign
| 335,251 |
A genetic alteration at chromosome X, position 67545316, in gene AR—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
benign
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGA
|
benign
| 335,252 |
Variant at chromosome X, position 67545316, gene AR: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
benign
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCC
|
benign
| 335,253 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 67545316, gene AR: what disease(s) if pathogenic?
|
benign
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTC
|
benign
| 335,254 |
Is the chromosome X, position 67545316 variant in AR clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
benign
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCT
|
benign
| 335,255 |
Evaluate the clinical significance of the mutation at chromosome X, position 67545316 in gene AR: benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
benign
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGA
|
benign
| 335,256 |
A genetic variant at chromosome X, position 67545316, affecting gene AR—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
benign
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCANNN
|
benign
| 335,257 |
Is the chromosome X, position 67545316 variant in AR clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
benign
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCANNNNNN
|
benign
| 335,258 |
Variant at chromosome position 67545316, chromosome X, gene AR: benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
benign
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCANNNNNNNNN
|
benign
| 335,259 |
Variant on chromosome X, at position 67545316, affecting AR: is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCANNNNNNNNNNNN
|
benign
| 335,260 |
Determine whether the variant at chromosome X, position 67545316, in gene AR is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
benign
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCANNNNNNNNNNNNNNN
|
benign
| 335,261 |
Is chromosome X, position 67545316, gene AR variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
benign
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCANNNNNNNNNNNNNNNNNN
|
benign
| 335,262 |
A genetic alteration at chromosome X, position 67545316, in gene AR—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
benign
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCANNNNNNNNNNNNNNNNNNNNN
|
benign
| 335,263 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 67545316, gene AR. What disease(s) is it linked to if pathogenic?
|
benign
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCANNNNNNNNNNNNNNNNNNNNNNNN
|
benign
| 335,264 |
Does the chromosome X mutation at position 67545316 within gene AR classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
benign
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCANNNNNNNNNNNNNNNNNNNNNNNNNNN
|
benign
| 335,265 |
The mutation impacting AR on chromosome X at position 67545316: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
benign
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
|
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCANNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
benign
| 335,266 |
Clinical significance of chromosome X, position 67546514, gene AR (androgen receptor): benign or pathogenic? Name the disease(s) if pathogenic.
|
benign
|
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACT
|
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGAT
|
benign
| 335,280 |
Does the variant on chromosome X at location 67546514 affecting gene AR (androgen receptor) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
benign
|
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACT
|
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCAT
|
benign
| 335,281 |
Benign or pathogenic: chromosome X, position 67546514, gene AR (androgen receptor) variant? Disease(s) if pathogenic?
|
benign
|
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACT
|
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACC
|
benign
| 335,282 |
Gene AR (androgen receptor) variant at chromosome position 67546514 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
benign
|
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACT
|
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACTNNN
|
benign
| 335,283 |
Gene AR (androgen receptor) variant at chromosome position 67546514 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
benign
|
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACT
|
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACTNNNNNN
|
benign
| 335,284 |
The mutation in gene AR (androgen receptor) at chromosome X, position 67546514—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACT
|
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACTNNNNNNNNN
|
benign
| 335,285 |
Is the variant located on chromosome X at position 67546514, gene AR (androgen receptor), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
benign
|
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACT
|
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACTNNNNNNNNNNNN
|
benign
| 335,286 |
Considering the variant on chromosome X, location 67546514, involving gene AR (androgen receptor), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
benign
|
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACT
|
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACTNNNNNNNNNNNNNNN
|
benign
| 335,287 |
Is the genetic mutation found on chromosome X at position 67546514, within the gene AR (androgen receptor), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACT
|
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACTNNNNNNNNNNNNNNNNNN
|
benign
| 335,288 |
Evaluate this variant at chromosome X, position 67546514, gene AR (androgen receptor): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
benign
|
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACT
|
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACTNNNNNNNNNNNNNNNNNNNNN
|
benign
| 335,289 |
Determine whether the variant at chromosome X, position 67546601, in gene AR (androgen receptor) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Androgen_resistance_syndrome', 'Kennedy_disease']
|
GCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACTAAACCCAGACACTGGAACCTTCCATCTTCTGCATGCCTCCCCCACAACTTACTTACTTAACAGGGAAAAAACTGATGGTTCCACATA
|
GCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACTAAACCCAGACACTGGAACCTTCCATCTTCTGCATGCCTCCCCCACAACTTACTTACTTAACAGGGAAAAAACTGATGGTTCCACATAN
|
pathogenic
| 335,296 |
The genetic variant at chromosome X, position 67546750, affecting gene AR (androgen receptor): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Androgen_resistance_syndrome', 'Kennedy_disease']
|
CAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACTAAACCCAGACACTGGAACCTTCCATCTTCTGCATGCCTCCCCCACAACTTACTTACTTAACAGGGAAAAAACTGATGGTTCCACATATTTGCTAAAAAATGTGTGCCTTCAAAGACAAAACCAAAATTTTTAGGGAATAACTATAGAGAGCAAAAGTTACTCCCATCAAGTAGACAACGAGCTTGGTGATTTTATTTCAGGTCTTAATGAAAAAAGCTTCTTTATGAGGAAGGTTA
|
CAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTAGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACTAAACCCAGACACTGGAACCTTCCATCTTCTGCATGCCTCCCCCACAACTTACTTACTTAACAGGGAAAAAACTGATGGTTCCACATATTTGCTAAAAAATGTGTGCCTTCAAAGACAAAACCAAAATTTTTAGGGAATAACTATAGAGAGCAAAAGTTACTCCCATCAAGTAGACAACGAGCTTGGTGATTTTATTTCAGGTCTTAATGAAAAAAGCTTCTTTATGAGGAAGGTTAN
|
pathogenic
| 335,300 |
Is the genetic mutation found on chromosome X at position 67717604, within the gene AR (androgen receptor), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Androgen_resistance_syndrome', 'Kennedy_disease']
|
CAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGATGACAAAATTTCAGATAATTCTGGATTTGTTGGTGAGAAGAGAGAGTGTTGGTAGGGACGAGCTCTGAGGTGATGCCTTTATAACTTTAAGCATCCAACTGTTTCAAAAACTCCAGGAGAACATGGCCATGTCTGTTCTACCTGTGTATTATTGTAGACGTAGCTTCTGGGAGCCTCTGCTCTCTGAGCTTAAGGGAGGTAATTTGGAGATCATTTAATTCTCATTTTACAAAAGGAAAAAAAATTGAGGGTCTTTAGGCCATTTGTTTAGGTAATATTTCTTAAGTGCCCACTCAAATACGTGGACTGTACTAAGTACTAGGGAGGTAAAGATAAATAAGAAGATATGGTCCCTGTCTTCAAGAAGCTCCAAGTCTTGTGGGGGAGACAGACATGTATATACATAGACTTCAATGCTGTGTAATGACTGCTATAATTGGGTGAGGCTACACAAGGTGCAATGAGAATGTAAAAGAAGAATCTTTAAGCCTTCTTCTTGGATGAGTTGGGAAAGCCTTCACAGAAGAGGTAGCCTTTGAGTGAAGACTTGAAAGATGAGTAGTGTTTACCGGATGAAAGGCCTGAGAAGGAGGAATGCATTCTAGGCAAAAGTAACTGCCTGTGCAGAGATAACAGAGATATAGAGGCATGTGAGAGCGCAAGTGGCAAGAGATCAGTCTAGGTAGGCAGGTCATAAAGGGCCTATTCATGTATAATGATGGCAGTAAGATGAGGATGGCAGTAGGGTGGGAAATTAGTAGGGCCAGGGTACCTATTGAGTAGAAAAGAATGGAGAGGAAATGCCAGGCAGAAAGAGGATGGACGCAAGAGAGGGAACATGAAAGTGGTGAACAGGTGGCAGTGGCTGTCAAGACATCTCTCCATACCCTGTACACTGTATGTAATATCCATCTCCCAGGGTTGTTAGAAGGGTCAAACCAGATCGTAGCTGGAAAACAGCTTTGTGAAGTGAAAACTGCTGTTTATGTGGGGGAAATGATTGTTAAACTGCATCTTTGGAAAGGTGAAGTGATCAAGAGCACAGACCTTGGAATCTGACTGCTTTGCTTTGTAACTTGGTCTGCCAATTACTAGCTGTATGATCTTGGACAAGTTCCTTAACCTCTCTCTGACTCACTTGTACTGGTTCACAGAATGGAGATAATAATAGTACTTACCTTACTCATTGTTGTGAATGTTAAATGAGATAATATAAGTAAAGTGCTTAGAAAAGAGTTAAATGTACCCCATAAATACATACAACTATCATGTACCCAAAATTATTTTTAATTTTTTTAAAAAAGAGCAATCCAATAGCAAAAGAAAAAAAGAGTTCACTCATATAAGCAGTCAATAAGTGTTAGATTATTTTTCTCTTACAACTGACAATGCCCTTTTTGTCTCCATCATCATCTCATTTGAGCAGCTCAGGGAAGTAGGGAGGATAAGGAATATTATCCTCACCATATAGTTTGTGCTTTTCCCCACCACCCCTTAATGGCCAGCCTGGATGGTCCCTGGGGATCCTTAGGGGATGCCCGAATACCAGAGCATCTCTGCCCAACAGGGACTCAGACTTAGCTCAACCCGTCAGTACCCAGACTGACCACTGCCTCTGCCTCTTCTTCTCCAGGCTTCCGCAACTTACACGTGGACGACCAGATGGCTGTCATTCAGTACTCCTGGATGGGGCTCATGGTGTTTGCCATGGGCTGGCGATCCTTCACCAATGTCAACTCCAGGATGCTCTACTTCGCCCCTGATCTGGTTTTCAATGAGTAAGTGCTCCTGGGGCCCAGACCTCACTAAAATACAGCAGCTTGGCCAGACCTGGTTGGTGGTGATGGTGATGGGGTGACAGTGAAGCTTAGCTCATTTGATCTGCAGTTGTCGCAGCGGATGCCCCAGCCAGCCAATCCAGTATGAGGCGGCTTTGCCCTGGCTTTCAGCCAACTGGCAGGAGCCCAGGAGGATGGTGCTGAGACCACCCCTTTCACACCCAAGAACCAATCCTAGTCATATTTCTGGTCTGCTTTGCAGCTTATCTCAAAACCACATGGAAAGATTCCTCCCCTTCACATATAAAAGAGGCAGAAAGACTCTGGCTTTAAGGGCTGGAGTTTCTTGGGTTCTTTTGCTACCACCAAAGGCTACTTCTAGTCACCATTTGCTGAGCAACTAGTTTGTGCCAAGACTATGCTAGATACTTTCTAAATCCTAGCTCATTGAGTCCTCATGGTGACCTGACCTCACCTTTTTATAGATAACACTATTTTTTTATGGATGGGGAAAATCAGGCTCAGCAAAATAAAGTGACTCACCCAAAGTCACAGAGCTAGTGCCTGTTGGAGACAAGATTCAAACGTATGTCCCTGTCGATCTCAGCTCTTCTGCGTCATGGTGGTAACTGATGGGAAGGAGTACCTCTACCGCTCTCTGGCTGTGTGACCTTGGTACTGCCATTTTCCTTCCCTTAAACAGCTTTAATTAATACCTGCCCTGCCACCAGCTCCATATAACATCATGAATTTGGCCAGTGGCTCAGATTTTGGAATTACATTTTTCTCCACTAAAATCTCAGTTCTACTATTTTCTTAGTCAGCATCTTTGGGAAAGACCTTTAACTTTTCCGACCCTCAATTTCTTCATCCATTAATGATAACAGAACCTTCATAAGTAATTTCTTATGATAACTAAATGGGAATTGACAGATGTGGAATGTCTGGCCCATAGTAGGCAAGAAGGAAAAAAAAAGTCCCTTTCTGATTCACCCTTTCCCTAATAGTGATACATTTTTTTTCCCCGAGATGGGGTTTTGCTCTGCCACCCAGGCTGGAGGGCAGTGGCGCAATGATCTCAGCCCAGTGCAACCTCCACCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTATAGATGCCCGCCACCGTGTCCATCTAATTTTTGTATTTTTGGTAGAGACGGGATTTCACCATGTTAGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCTGCCCGCCTCAGCCGGGCATGATAATCTTTTCTATGTCTGCTGTATGAGGTCCCTCGATGGCATTGTGAATGGAGCTGGCCAGAGAAATCTTCCCAAGGACCTTGAGCTAGTCTCACCACAGAGAATCCTTCCAGTCAGGACAGGAATTGACCTTCCCCCCTCTTCAGCCCTCTAACCCAGAAGAGTCTTAAAATAAAATCTACAGGCCAATGGTTCCTTCCAGTACAGCACTGCAATGCGAGGGAGAGTGAGCGTCCCCAGCTGCCCTCTCCCAACCCTGCCAGCCTGGTAGCCAAAAGCTAAGAATAACCACTAGGCTTTTGGCACAAACTGCTTTGTGGTTTTCAGATCTCCGCAAAGTTGCCTATGATGCCATCTTCTGGGGCAGGCCTTGAAAAGCCCCCTAACTGTTCATCTCCCATCCTTAAACCCCTGCTGCCCTTAAGCAGTTGAATCAACTCCATGAGCACCTGCTCTACCTTCCCCAGAGCCCTGAGACCTTTGGAGCTTTGAAAAGTGATAATTGGTTGTTCTCTAAATCCTCATTTCCTTCTCTGCCTCTAAGTAAGCATGTGGCATCCCACCTCGGCTTCCTGGTCCAGTCTTGTTCATCTTATAAAAAGGCCTCCCTACGGGGTCAGAGGCCTAGACCCATCAAACCCAGGGCTCCTGAAACAATAGGACCCCTATTCCTCCTGTAGGAAGCCACTGTGTTAGAGCTCTCAGGGTGTCTACAAACATCTAGATAAGTGTTTCTCAACATGGATTCTGTTGACA
|
CAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGATGACAAAATTTCAGATAATTCTGGATTTGTTGGTGAGAAGAGAGAGTGTTGGTAGGGACGAGCTCTGAGGTGATGCCTTTATAACTTTAAGCATCCAACTGTTTCAAAAACTCCAGGAGAACATGGCCATGTCTGTTCTACCTGTGTATTATTGTAGACGTAGCTTCTGGGAGCCTCTGCTCTCTGAGCTTAAGGGAGGTAATTTGGAGATCATTTAATTCTCATTTTACAAAAGGAAAAAAAATTGAGGGTCTTTAGGCCATTTGTTTAGGTAATATTTCTTAAGTGCCCACTCAAATACGTGGACTGTACTAAGTACTAGGGAGGTAAAGATAAATAAGAAGATATGGTCCCTGTCTTCAAGAAGCTCCAAGTCTTGTGGGGGAGACAGACATGTATATACATAGACTTCAATGCTGTGTAATGACTGCTATAATTGGGTGAGGCTACACAAGGTGCAATGAGAATGTAAAAGAAGAATCTTTAAGCCTTCTTCTTGGATGAGTTGGGAAAGCCTTCACAGAAGAGGTAGCCTTTGAGTGAAGACTTGAAAGATGAGTAGTGTTTACCGGATGAAAGGCCTGAGAAGGAGGAATGCATTCTAGGCAAAAGTAACTGCCTGTGCAGAGATAACAGAGATATAGAGGCATGTGAGAGCGCAAGTGGCAAGAGATCAGTCTAGGTAGGCAGGTCATAAAGGGCCTATTCATGTATAATGATGGCAGTAAGATGAGGATGGCAGTAGGGTGGGAAATTAGTAGGGCCAGGGTACCTATTGAGTAGAAAAGAATGGAGAGGAAATGCCAGGCAGAAAGAGGATGGACGCAAGAGAGGGAACATGAAAGTGGTGAACAGGTGGCAGTGGCTGTCAAGACATCTCTCCATACCCTGTACACTGTATGTAATATCCATCTCCCAGGGTTGTTAGAAGGGTCAAACCAGATCGTAGCTGGAAAACAGCTTTGTGAAGTGAAAACTGCTGTTTATGTGGGGGAAATGATTGTTAAACTGCATCTTTGGAAAGGTGAAGTGATCAAGAGCACAGACCTTGGAATCTGACTGCTTTGCTTTGTAACTTGGTCTGCCAATTACTAGCTGTATGATCTTGGACAAGTTCCTTAACCTCTCTCTGACTCACTTGTACTGGTTCACAGAATGGAGATAATAATAGTACTTACCTTACTCATTGTTGTGAATGTTAAATGAGATAATATAAGTAAAGTGCTTAGAAAAGAGTTAAATGTACCCCATAAATACATACAACTATCATGTACCCAAAATTATTTTTAATTTTTTTAAAAAAGAGCAATCCAATAGCAAAAGAAAAAAAGAGTTCACTCATATAAGCAGTCAATAAGTGTTAGATTATTTTTCTCTTACAACTGACAATGCCCTTTTTGTCTCCATCATCATCTCATTTGAGCAGCTCAGGGAAGTAGGGAGGATAAGGAATATTATCCTCACCATATAGTTTGTGCTTTTCCCCACCACCCCTTAATGGCCAGCCTGGATGGTCCCTGGGGATCCTTAGGGGATGCCCGAATACCAGAGCATCTCTGCCCAACAGGGACTCAGACTTAGCTCAACCCGTCAGTACCCAGACTGACCACTGCCTCTGCCTCTTCTTCTCCAGGCTTCCGCAACTTACACGTGGACGACCAGATGGCTGTCATTCAGTACTCCTGGATGGGGCTCATGGTGTTTGCCATGGGCTGGCGATCCTTCACCAATGTCAACTCCAGGATGCTCTACTTCGCCCCGATCTGGTTTTCAATGAGTAAGTGCTCCTGGGGCCCAGACCTCACTAAAATACAGCAGCTTGGCCAGACCTGGTTGGTGGTGATGGTGATGGGGTGACAGTGAAGCTTAGCTCATTTGATCTGCAGTTGTCGCAGCGGATGCCCCAGCCAGCCAATCCAGTATGAGGCGGCTTTGCCCTGGCTTTCAGCCAACTGGCAGGAGCCCAGGAGGATGGTGCTGAGACCACCCCTTTCACACCCAAGAACCAATCCTAGTCATATTTCTGGTCTGCTTTGCAGCTTATCTCAAAACCACATGGAAAGATTCCTCCCCTTCACATATAAAAGAGGCAGAAAGACTCTGGCTTTAAGGGCTGGAGTTTCTTGGGTTCTTTTGCTACCACCAAAGGCTACTTCTAGTCACCATTTGCTGAGCAACTAGTTTGTGCCAAGACTATGCTAGATACTTTCTAAATCCTAGCTCATTGAGTCCTCATGGTGACCTGACCTCACCTTTTTATAGATAACACTATTTTTTTATGGATGGGGAAAATCAGGCTCAGCAAAATAAAGTGACTCACCCAAAGTCACAGAGCTAGTGCCTGTTGGAGACAAGATTCAAACGTATGTCCCTGTCGATCTCAGCTCTTCTGCGTCATGGTGGTAACTGATGGGAAGGAGTACCTCTACCGCTCTCTGGCTGTGTGACCTTGGTACTGCCATTTTCCTTCCCTTAAACAGCTTTAATTAATACCTGCCCTGCCACCAGCTCCATATAACATCATGAATTTGGCCAGTGGCTCAGATTTTGGAATTACATTTTTCTCCACTAAAATCTCAGTTCTACTATTTTCTTAGTCAGCATCTTTGGGAAAGACCTTTAACTTTTCCGACCCTCAATTTCTTCATCCATTAATGATAACAGAACCTTCATAAGTAATTTCTTATGATAACTAAATGGGAATTGACAGATGTGGAATGTCTGGCCCATAGTAGGCAAGAAGGAAAAAAAAAGTCCCTTTCTGATTCACCCTTTCCCTAATAGTGATACATTTTTTTTCCCCGAGATGGGGTTTTGCTCTGCCACCCAGGCTGGAGGGCAGTGGCGCAATGATCTCAGCCCAGTGCAACCTCCACCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTATAGATGCCCGCCACCGTGTCCATCTAATTTTTGTATTTTTGGTAGAGACGGGATTTCACCATGTTAGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCTGCCCGCCTCAGCCGGGCATGATAATCTTTTCTATGTCTGCTGTATGAGGTCCCTCGATGGCATTGTGAATGGAGCTGGCCAGAGAAATCTTCCCAAGGACCTTGAGCTAGTCTCACCACAGAGAATCCTTCCAGTCAGGACAGGAATTGACCTTCCCCCCTCTTCAGCCCTCTAACCCAGAAGAGTCTTAAAATAAAATCTACAGGCCAATGGTTCCTTCCAGTACAGCACTGCAATGCGAGGGAGAGTGAGCGTCCCCAGCTGCCCTCTCCCAACCCTGCCAGCCTGGTAGCCAAAAGCTAAGAATAACCACTAGGCTTTTGGCACAAACTGCTTTGTGGTTTTCAGATCTCCGCAAAGTTGCCTATGATGCCATCTTCTGGGGCAGGCCTTGAAAAGCCCCCTAACTGTTCATCTCCCATCCTTAAACCCCTGCTGCCCTTAAGCAGTTGAATCAACTCCATGAGCACCTGCTCTACCTTCCCCAGAGCCCTGAGACCTTTGGAGCTTTGAAAAGTGATAATTGGTTGTTCTCTAAATCCTCATTTCCTTCTCTGCCTCTAAGTAAGCATGTGGCATCCCACCTCGGCTTCCTGGTCCAGTCTTGTTCATCTTATAAAAAGGCCTCCCTACGGGGTCAGAGGCCTAGACCCATCAAACCCAGGGCTCCTGAAACAATAGGACCCCTATTCCTCCTGTAGGAAGCCACTGTGTTAGAGCTCTCAGGGTGTCTACAAACATCTAGATAAGTGTTTCTCAACATGGATTCTGTTGACAN
|
pathogenic
| 335,330 |
The chromosome X, position 67721915 genetic variant in gene AR (androgen receptor): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Androgen_resistance_syndrome', 'Kennedy_disease']
|
GAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTGAACACCTGCTATGTGTCAGGCACTGTGCTCAGTGTTTTCCAATCTTCATTTCTCCTCTTATTTTCTCTCTTGCACTCCCACCAACCTTGTTCTCTTCCTAAATTCCATTCCTGCCTCATTTTTCTACCCTCCATTCTCCTCTCTCTTCCTTCCTTTAACTGTCTCCCTAGTATTTTTCCCCTTTTCCCCCTTTCTTTTCCCCTTCCCCCATGAATTTCTTCTCTTTCCTTTCCCCTTCTCTTTCCTCCATTCCCCACTTTTTCTGCCCCTGAGGCCTGCAGCAATGTTAAAGGAATCCTCATTCCAGCATTGTGATTTCAATGGTAAAAAGATTGCAGCATTGTCATCAACAGAGGTGGGAAAGTACATTGGAGACTGGAGCAGAGCCAGACCTCAGGGTCAGCCAATCTTACTAAAAAATTCTCTACAGTGAAAGAGCTTGGAGCAACACTGTTCTGCTCAATTGATTTGTGATACCATCTAAACACTTCCTCTTTCTAGTTGGGCTTCAGCCTGAGTTGAATAATTCTACACCATCTGCCCTCTTCTCTCTTTCTCCAGGACAGCCAAGATCTCTCTGAGATAGGATGCTGAGCTTCCACCCAGACAATACCAGGCCTGCTCATCCTATGGAGTAGGCTAGTGGCTTGGAAACCAAAATGTCAAACCATAGCCTTTAGGCTCCATCTGGGAGGTCTTTGTCCTCACCACTTAAGTGGGTGTCAAATTTCCTTCCCTTTCTGCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTTTGAAAGAACAATGTGGAATCTCCTTCACTGGGAGTTTTTGAATAAGTATGAAATTTCTAGTATTCCAGGCCAGAGGCAAAGGGGTCAACAGGATGACCAAACACTTCGGGTCATTTGCAAATCTTGATGTCCTGATGTTAAGAGCTGACTACTGGGGCTTCTCCTAAAAATCCTTCATGTTGAGCTGCCTGGAAGGCAGGTTCTCATTCTGGCTGTAGCTGAGATGTTAGAACTGTAGTCAGGGAGACCATGTGCCTCCCCCATTGTGTTCATTTGGTTAGGCTTTCCTGTCCCTGACTCAGAAAACAGAAGGGGCACAGAGACCTGGAAATTCCATGTGCTAACCCATATCCTGGCCAGAGAAGATGAGTAGTTATCAGGGTGTCAGGATTTTGGAAAACAGAGAGAGAAAAAAAACAAACAAACAGACAAACAAACAAAAAAACCTTTTCCTGGTCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCATTAGTAAGTGCCTAGAAGTGCAGGGAATGCCCCCTGAGGGCACAGAGATTCAGAGAGGACCACTTTTGCCATTAAAACATTATTAGGGAAAAGCCAGCTCCTGGACATTTCCCTTCTTCATTCCCCCTCCCCATCCCCACTCTACTCTCTCTCAGCATCATTTTCCTAACAAGAAACAATTTCATGACTAGAAGCCAATTTATTTGCTAGAAGTCAACCTCCATCAGATTCCCCACCTATCCCCAGTCTGTCTTTGGGACAAGGCCTTTTTGACTGGTTACAGCAGGTCTCTGAATTTTTCCATAGCTTCTGCTATAGAAACAGACATGGGCCACCTTGTATTCTTTGCAGGGCAGTAGAGCAGGAGGCATTTCCTCCTGGAAAGATTTCCTCTTCTGCCAACAGGAGGAGATCTATGTAAGCAACTCAGATAGGATTTGTATGGCAGCCAAGGAACTTTTCTTTAATATCTTTTCTAAGAGCCCTCTCTTAGCCCCTACGGAGGGAGAAGGGCAAAATTTGATATTCAAAGCTATGTGTTTTGGTTATCTAAATCAGGGTTTTACTGTGAATGACATAAAAGCTTAGGTCCTAAAAAATGAGTATCTGAGAAGAGTAGAAAAAGAAAAGGTTCAGGAAATTTGATTTACTTGACTCCTTTCAGATCGGATCCAGCTATCCTTTCCCCTGAGATCTCCCTGACAGACTGAAGGCCCCAAGCACACAGACTTCAACTAACAGGAAGCCAAGTAGATGGTTCCCTGTGGGGGTGGGGGTCAAGTCTGTGGTCAGAAAACTTGGTGCTTTGTCTAATGCTCCTTCGTGGGCATGCTTCCCCTCCCCATTCTGTCTTCATCCCACATCAGTTCCAGTGGATGGGCTGAAAAATCAAAAATTCTTTGATGAACTTCGAATGAACTACATCAAGGAACTCGATCGTATCATTGCATGCAAAAGAAAAAATCCCACATCCTGCTCAAGACGCTTCTACCAGCTCACCAAGCTCCTGGACTCCGTGCAGCCTGTAAGCAAACGATGGAGGGTGCTTTATCAGGGAGAACAGCCTGATAGAGCCAATGATAATATGCTTCTCTAGAGTCTGGCACCACCTGTTGGGAGGTGCTTCCATTCCCCTCTGGCTTTGAGTGTGGTCCAGGAAGAAAATGTGGTGAAGAAAAGAACACGGGTCACAGTGTCCCAGCTGGATATTGTGAAAGGGGTGGAGGAGTTGAGAACAGAGCAGTTGGGACTCAGGGAAGGGACTTGCAGCAGATGAATTCTCTAGGCAGACAAAACAGACCTGGATGTTTTTCCCCTCTTCTTTGAGTCATGTTCATGTGAGTTTGTCTGTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTGCGGAGGCTTGGGTGAGAGCACAAGCTGGAGAAGTCTTGAGTCAGAGAGCTTACAATGGTATAAGACATCTCTTGGGAGCCCTCAGTGACTCCATGGAGACCATTTCTTTCTCTCTCTCTCGCTGTCTCTCTCTAACACACACACACACACACACGACCTCATGGGGGAGGACCAAGGAAGTACGGGGAAGGGGGAGGAAACAAAAGGCTGAAAGACCAAAAATCAGAGGTTGGGGAAGAGGCTAGCAGAGGCCACCTCCTTGTCAACCCTGTTTTTCTCCCTCTTATTGTTCCCTACAGATTGCGAGAGAGCTGCATCAGTTCACTTTTGACCTGCTAATCAAGTCACACATGGTGAGCGTGGACTTTCCGGAAATGATGGCAGAGATCATCTCTGTGCAAGTGCCCAAGATCCTTTCTGGGAAAGTCAAGCCCATCTATTTCCACACCCAGTGAAGCATTGGAAACCCTATTTCCCCACCCCAGCTCATGCCCCCTTTCAGATGTCTTCTGCCTGTTATAACTCTGCACTACTCCTCTGCAGTGCCTTGGGGAATTTCCTCTATTGATGTACAGT
|
GAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTGAACACCTGCTATGTGTCAGGCACTGTGCTCAGTGTTTTCCAATCTTCATTTCTCCTCTTATTTTCTCTCTTGCACTCCCACCAACCTTGTTCTCTTCCTAAATTCCATTCCTGCCTCATTTTTCTACCCTCCATTCTCCTCTCTCTTCCTTCCTTTAACTGTCTCCCTAGTATTTTTCCCCTTTTCCCCCTTTCTTTTCCCCTTCCCCCATGAATTTCTTCTCTTTCCTTTCCCCTTCTCTTTCCTCCATTCCCCACTTTTTCTGCCCCTGAGGCCTGCAGCAATGTTAAAGGAATCCTCATTCCAGCATTGTGATTTCAATGGTAAAAAGATTGCAGCATTGTCATCAACAGAGGTGGGAAAGTACATTGGAGACTGGAGCAGAGCCAGACCTCAGGGTCAGCCAATCTTACTAAAAAATTCTCTACAGTGAAAGAGCTTGGAGCAACACTGTTCTGCTCAATTGATTTGTGATACCATCTAAACACTTCCTCTTTCTAGTTGGGCTTCAGCCTGAGTTGAATAATTCTACACCATCTGCCCTCTTCTCTCTTTCTCCAGGACAGCCAAGATCTCTCTGAGATAGGATGCTGAGCTTCCACCCAGACAATACCAGGCCTGCTCATCCTATGGAGTAGGCTAGTGGCTTGGAAACCAAAATGTCAAACCATAGCCTTTAGGCTCCATCTGGGAGGTCTTTGTCCTCACCACTTAAGTGGGTGTCAAATTTCCTTCCCTTTCTGCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTTTGAAAGAACAATGTGGAATCTCCTTCACTGGGAGTTTTTGAATAAGTATGAAATTTCTAGTATTCCAGGCCAGAGGCAAAGGGGTCAACAGGATGACCAAACACTTCGGGTCATTTGCAAATCTTGATGTCCTGATGTTAAGAGCTGACTACTGGGGCTTCTCCTAAAAATCCTTCATGTTGAGCTGCCTGGAAGGCAGGTTCTCATTCTGGCTGTAGCTGAGATGTTAGAACTGTAGTCAGGGAGACCATGTGCCTCCCCCATTGTGTTCATTTGGTTAGGCTTTCCTGTCCCTGACTCAGAAAACAGAAGGGGCACAGAGACCTGGAAATTCCATGTGCTAACCCATATCCTGGCCAGAGAAGATGAGTAGTTATCAGGGTGTCAGGATTTTGGAAAACAGAGAGAGAAAAAAAACAAACAAACAGACAAACAAACAAAAAAACCTTTTCCTGGTCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCATTAGTAAGTGCCTAGAAGTGCAGGGAATGCCCCCTGAGGGCACAGAGATTCAGAGAGGACCACTTTTGCCATTAAAACATTATTAGGGAAAAGCCAGCTCCTGGACATTTCCCTTCTTCATTCCCCCTCCCCATCCCCACTCTACTCTCTCTCAGCATCATTTTCCTAACAAGAAACAATTTCATGACTAGAAGCCAATTTATTTGCTAGAAGTCAACCTCCATCAGATTCCCCACCTATCCCCAGTCTGTCTTTGGGACAAGGCCTTTTTGACTGGTTACAGCAGGTCTCTGAATTTTTCCATAGCTTCTGCTATAGAAACAGACATGGGCCACCTTGTATTCTTTGCAGGGCAGTAGAGCAGGAGGCATTTCCTCCTGGAAAGATTTCCTCTTCTGCCAACAGGAGGAGATCTATGTAAGCAACTCAGATAGGATTTGTATGGCAGCCAAGGAACTTTTCTTTAATATCTTTTCTAAGAGCCCTCTCTTAGCCCCTACGGAGGGAGAAGGGCAAAATTTGATATTCAAAGCTATGTGTTTTGGTTATCTAAATCAGGGTTTTACTGTGAATGACATAAAAGCTTAGGTCCTAAAAAATGAGTATCTGAGAAGAGTAGAAAAAGAAAAGGTTCAGGAAATTTGATTTACTTGACTCCTTTCAGATCGGATCCAGCTATCCTTTCCCCTGAGATCTCCCTGACAGACTGAAGGCCCCAAGCACACAGACTTCAACTAACAGGAAGCCAAGTAGATGGTTCCCTGTGGGGGTGGGGGTCAAGTCTGTGGTCAGAAAACTTGGTGCTTTGTCTAATGCTCCTTCGTGGGCATGCTTCCCCTCCCCATTCTGTCTTCATCCCACATCAGTTCCAGTGGATGGGCTGAAAAATCAAAAATTCTTTGATGAACTTCGAATGAACTACATCAAGGAACTCGATCGTATCATTGCATGCAAAAGAAAAAATCCCACATCCTGCTCAAGACGCTTCTACCAGCTCACCAAGCTCCTGGACTCCGTGCAGCCTGTAAGCAAACGATGGAGGGTGCTTTATCAGGGAGAACAGCCTGATAGAGCCAATGATAATATGCTTCTCTAGAGTCTGGCACCACCTGTTGGGAGGTGCTTCCATTCCCCTCTGGCTTTGAGTGTGGTCCAGGAAGAAAATGTGGTGAAGAAAAGAACACGGGTCACAGTGTCCCAGCTGGATATTGTGAAAGGGGTGGAGGAGTTGAGAACAGAGCAGTTGGGACTCAGGGAAGGGACTTGCAGCAGATGAATTCTCTAGGCAGACAAAACAGACCTGGATGTTTTTCCCCTCTTCTTTGAGTCATGTTCATGTGAGTTTGTCTGTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTGCGGAGGCTTGGGTGAGAGCACAAGCTGGAGAAGTCTTGAGTCAGAGAGCTTACAATGGTATAAGACATCTCTTGGGAGCCCTCAGTGACTCCATGGAGACCATTTCTTTCTCTCTCTCTCGCTGTCTCTCTCTAACACACACACACACACACACGACCTCATGGGGGAGGACCAAGGAAGTACGGGGAAGGGGGAGGAAACAAAAGGCTGAAAGACCAAAAATCAGAGGTTGGGGAAGAGGCTAGCAGAGGCCACCTCCTTGTCAACCCTGTTTTTCTCCCTCTTATTGTTCCCTACAGATTGCGAGAGAGCTGCATCAGTTCACTTTTGACCTGCTAATCAAGTCACACATGGTGAGCGTGGACTTTCCGGAAATGATGGCAGAGATCATCTCTGTGCAAGTGCCCAAGATCCTTTCTGGGAAAGTCAAGCCCATCTATTTCCACACCCAGTGAAGCATTGGAAACCCTATTTCCCCACCCCAGCTCATGCCCCCTTTCAGATGTCTTCTGCCTGTTATAACTCTGCACTACTCCTCTGCAGTGCCTTGGGGAATTTCCTCTATTGATGTACAG
|
pathogenic
| 335,336 |
Evaluate the clinical significance of the mutation at chromosome X, position 68234501 in gene OPHN1 (oligophrenin 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Abnormality_of_the_nervous_system', 'X-linked_intellectual_disability-cerebellar_hypoplasia_syndrome']
|
GTAACAACACAGAGAAAATGTTATCAGTCAGGGAAGCTCATAAGAGAATGAGTAGCTTAGGGTTTTACTGCGGGGCTAGTTACACAGGCACACTCTGCCCAGCACAACCAAAATTCAAGAGTACCAGAAGAAAAAGGTGTTCGACATAAGCTACATTATTTGCAGAGCCAGGCTTGGCACAGTCAGCCATTCTTACCCATTAAGGGAAACTTCTAAATCAATGTTGGGAGCTGTTTAACAGTGAAGTTCCCAGATGCCATTCCAAGGGCTAATTTTGTAAACAGGTCTTTCTAAGCATAGCAGTCTCAGGCCTGTTGACTGTTTTCTGCATAGAAACCGCGACACAGAATAGATAGAAAAGGAAAAAAACAAAAGTGGGCAAAAGGAAAATGATAGAAGATCCCAGACTCAATTCTAGTTTATGGAAGGAAAGTAGTCCTTCTCCTTTGCAATACTAACTCCATCCACAACTAAGGCTTTTTTTTTTTTTTTTGAGACAGAGTTTCGTTCTTGTCACCCAGGCTGGAGTGCAATGGAGTGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTTCTTCCTCAGTCTCCTAAGTAATTGAGATTACAGACATGTGCCACTATGCCCGGTTAATTTTGTATTTTTAGTAGAGCTGGGGTTTTGCCATGTTGGCCAGGCTGGTTGCAAACTCTTGACCTCAAGAGATCCACCTGCCTTGGCCGCCCAAAATGCTGGGATTACAGGCATGAGCCACTGCACTCGGCCACACTGAGGCTCTTGACCTATTACCTTCAAGCACCTCAGATGATGTGATGGATATCTATGAAACCAGTTATCAGGAGATGAGCTCCAGCTCTGCCACAATCTGTGTGACCATGGACAAGATGACAGCTCCTGCCTATGATATTATTCCATCAGATATCTCTTTTCATACTTGAATCTTTAAAATCTCCATTATTACTGAATCTTTCATTGAACATATAGACCCCTCCTTCCATTAGAAAAATTCTCAATCAGTTTATTCCTTCTTTTCCTTCCCTAGTGCCTCTCTTACGGCTCTGTCACTTTCCCCTAGATCGTTTCCTAGATCAATAGTTTCCTAAACTGTTTATCCTGCTTCTAGTCTCTCCCTGATCTAATTCACCCTACAACCTATGCCAGTTTGAGATTCCTAAAATAGAATTCTACTTATGTTCCTTCCATCCTTGGGCCATTGGTCTCTGTTTGAAAGGTCCATTTATCCATTTTCACCTGTCAAACACTTTACCTATATTTTAATGACCACGTCAAATTGGAAGGGCAACATTCTTCCACAAAGGAAATTCCCCACATCCAAACATAAGTCTTCTATTCTCATTTCCCACTCCCAACAAAAGCACCATATACACATTAAAGTATGTAAAAAAAATCTATTTGTATAAGAGTAATGTGTTTTCTTATTTAGTAGCCCAACAGTAAGCTGCAGAAGGGCAGGAATCATGTCTCATTGTTTCTGTAGCCATGTTGCATCCAGTACAGTTCATGGCATGTGGTAGGGTCTCACCGAATGGTAGCTTATTTGAACTGAAGGCACTGCAAGTCCCAGGTAAGCAGTAGTCCCAAAACAGAACATTCCCCTAACCCCTCACCAAAAAAAAAAAAAAAAAAAAAGGTTGTGGAATCTCTCAGGGAAAAAAGTAGAAGATCTGTTCCTGATTTCTACCAAATACAACACTAGTTTAACTTTATCCTCGCATGGATTTTGGACTTGCAATTGAAAGGGACTCTCGACTCCTCTTCTTACAGATAATGGAATGAGGCAAAGAAAGAAGTATCCTATCCAAGGTCACACCCTGAGTTAGTGGAAGAGCTGGCTTAGTATTCAGGGCTTCTGAGTCTCAGGCCACAGTTTTGACTACAAGTGCTACTATCACATGAGGTTCCCTGCTGAGACGGGGTATGGGAAAAGCCTTGCAGTACAAAATTCACACTGTTTCTAAGGCATAGCTAGCAATGGAAGGCAGGGGCAGGCTTTGTGAACATACCTCTTGTAACTGAGATTCTTTCTTTTTTGAAGACAGGTGTAAGTGCCGATCCAGTAAAGAATAAAACCTCTCACCATCCTTTTCAAATTTCTTTTTCCGCTCCTAAAGGTGGGAAAGAAGGGCAAAGATTAAATGTCTGTAGTTGTAACTCTGTCTGCTTAGAAAGGAGAATGAAGGAGATAGTGTCAGGTTTCAGGTGGTCAATCCCTCTAGCTCCTGGAAGGAAAAAAAAGCAACGGAGAATTAACTTTGTATTGGTCTCAGCAGTTTCAGCTTCCTGAAATATAACCCCAAACCATTCTGCCTGCAGAAATGGCAGTCCCTATTTTTACAGCTGAAAGCTATGGAAGCTGCTCCTTAGAGAATGATACCTTAAAAGGGCCTGTGCAGTAGATATATTTTCTTCCCTCCAATATTTTTCACATAGATTAACCACTCATTCAAATTTTCTTACAAAGGAAGAAGACATAACACAAATGGAAGTAAATATTTGTCATGAAAAGGTTAATCTACAATGCACTTAGACAGCTAATAATAAGTAAAACATTTCCAAAGAAATAGGAACCTGGGATTGTCTCTTTTTAATAAATTACTTGGTATTATTTAAGCACTTCACTCCAAAAAGCTGATATTAAAAACAGAGAAAAAAAATCCTGGAAAGTTTAACTAGAAAGCAAGGGTTGTAAAGATTTGTGGCAGATGAAGGACTCAGCCTTTACTCTTCTCGAGTATGAAATTTAATTAAGTTCTCTGCTACTCAGCACAACTGGAAGAAACACAGCATCTAAAGTAGCACTAACAATGTTCCTTTGTCACAGACTAATGCTGACACTCTACTATTCTCTTAGCATCATGCTGGAAAATCAATGTAAATGGCTTGTGCTGTCTCATGCGAAATCCAAAATCACTGAGCACCTGCAATGTGCCAGGTAGTAGAAGAGGCACAGCAGGGGACACACGGATCAAAGAAAAAAAAATCACCCATGGTTTATTGCTACAAGCAATCTGTTGCTGGGCAGGAAGCTAGGGCAGAGCTGAGTGACCTGTGACATATAAGAAATGTGCTTTTGGCCGGGCACAGTGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAGAGAAAAAAAATTAGCTGGGCTTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTACAGTGAGCCGAGATTGTGCCACTGCATTCCAGCCTAGGTGAGAGAGCAAGACTCTGTTTCAGGCGGGGTGGACAGGGAAGAAAGAAAGAAATGTGCTTTTTACTATTTTTTTTTAATGAAGGGAAACGTGTAGGGAGGAAGCTAACATTCATTAACCAAGGCCTACATCAGGCCAGGCACTATGATAGACACTTAAAGTCTATTATCTCATTTAGACTTTACAACACTGAGAAGCAGATATTGTAAAGGAAATTAAGGTTCAAATAAGCTGAACTAACATCCAAGATCACAGTCCATGTAGCCCAGATTATCATGGGTGGAATAACATTCATGGGGCTTATAAATAATCAAGACGTCTTAGGAATACAACTCGAGAAGTTCCATAGCCCAACCCTAACTCAGATACCAAAACACAGGAGGTAGACATTTTCACACAAAACATAGGAAGGACAAACTGTTCCTCCAGCTGTTGAATCAATTTAAAGTACCAATTATTTGAGAAAAGCATGGGCCAGAAAACCTTACTGCCTTCACCAAGGACCGATAAGATTCTGTGGAATACTTTCTCCTTCAAATTCAATTTTTAAATTAAAAACTGAAATATAATTCTCATATCATAAAACTCATCCTTTTAAAGTGTACAATTCAGTGGTTTTTAGCATATTCACAAAGCTGTGCAACCACTGCTGTTATCTAATTCCAAAATATTTTCATCACCCCAAAAAGAAATCTTAATCACATTAGTAATCAT
|
GTAACAACACAGAGAAAATGTTATCAGTCAGGGAAGCTCATAAGAGAATGAGTAGCTTAGGGTTTTACTGCGGGGCTAGTTACACAGGCACACTCTGCCCAGCACAACCAAAATTCAAGAGTACCAGAAGAAAAAGGTGTTCGACATAAGCTACATTATTTGCAGAGCCAGGCTTGGCACAGTCAGCCATTCTTACCCATTAAGGGAAACTTCTAAATCAATGTTGGGAGCTGTTTAACAGTGAAGTTCCCAGATGCCATTCCAAGGGCTAATTTTGTAAACAGGTCTTTCTAAGCATAGCAGTCTCAGGCCTGTTGACTGTTTTCTGCATAGAAACCGCGACACAGAATAGATAGAAAAGGAAAAAAACAAAAGTGGGCAAAAGGAAAATGATAGAAGATCCCAGACTCAATTCTAGTTTATGGAAGGAAAGTAGTCCTTCTCCTTTGCAATACTAACTCCATCCACAACTAAGGCTTTTTTTTTTTTTTTTGAGACAGAGTTTCGTTCTTGTCACCCAGGCTGGAGTGCAATGGAGTGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTTCTTCCTCAGTCTCCTAAGTAATTGAGATTACAGACATGTGCCACTATGCCCGGTTAATTTTGTATTTTTAGTAGAGCTGGGGTTTTGCCATGTTGGCCAGGCTGGTTGCAAACTCTTGACCTCAAGAGATCCACCTGCCTTGGCCGCCCAAAATGCTGGGATTACAGGCATGAGCCACTGCACTCGGCCACACTGAGGCTCTTGACCTATTACCTTCAAGCACCTCAGATGATGTGATGGATATCTATGAAACCAGTTATCAGGAGATGAGCTCCAGCTCTGCCACAATCTGTGTGACCATGGACAAGATGACAGCTCCTGCCTATGATATTATTCCATCAGATATCTCTTTTCATACTTGAATCTTTAAAATCTCCATTATTACTGAATCTTTCATTGAACATATAGACCCCTCCTTCCATTAGAAAAATTCTCAATCAGTTTATTCCTTCTTTTCCTTCCCTAGTGCCTCTCTTACGGCTCTGTCACTTTCCCCTAGATCGTTTCCTAGATCAATAGTTTCCTAAACTGTTTATCCTGCTTCTAGTCTCTCCCTGATCTAATTCACCCTACAACCTATGCCAGTTTGAGATTCCTAAAATAGAATTCTACTTATGTTCCTTCCATCCTTGGGCCATTGGTCTCTGTTTGAAAGGTCCATTTATCCATTTTCACCTGTCAAACACTTTACCTATATTTTAATGACCACGTCAAATTGGAAGGGCAACATTCTTCCACAAAGGAAATTCCCCACATCCAAACATAAGTCTTCTATTCTCATTTCCCACTCCCAACAAAAGCACCATATACACATTAAAGTATGTAAAAAAAATCTATTTGTATAAGAGTAATGTGTTTTCTTATTTAGTAGCCCAACAGTAAGCTGCAGAAGGGCAGGAATCATGTCTCATTGTTTCTGTAGCCATGTTGCATCCAGTACAGTTCATGGCATGTGGTAGGGTCTCACCGAATGGTAGCTTATTTGAACTGAAGGCACTGCAAGTCCCAGGTAAGCAGTAGTCCCAAAACAGAACATTCCCCTAACCCCTCACCAAAAAAAAAAAAAAAAAAAAAGGTTGTGGAATCTCTCAGGGAAAAAAGTAGAAGATCTGTTCCTGATTTCTACCAAATACAACACTAGTTTAACTTTATCCTCGCATGGATTTTGGACTTGCAATTGAAAGGGACTCTCGACTCCTCTTCTTACAGATAATGGAATGAGGCAAAGAAAGAAGTATCCTATCCAAGGTCACACCCTGAGTTAGTGGAAGAGCTGGCTTAGTATTCAGGGCTTCTGAGTCTCAGGCCACAGTTTTGACTACAAGTGCTACTATCACATGAGGTTCCCTGCTGAGACGGGGTATGGGAAAAGCCTTGCAGTACAAAATTCACACTGTTTCTAAGGCATAGCTAGCAATGGAAGGCAGGGGCAGGCTTTGTGAACATACCTCTTGTAACTGAGATTCTTTTTTGAAGACAGGTGTAAGTGCCGATCCAGTAAAGAATAAAACCTCTCACCATCCTTTTCAAATTTCTTTTTCCGCTCCTAAAGGTGGGAAAGAAGGGCAAAGATTAAATGTCTGTAGTTGTAACTCTGTCTGCTTAGAAAGGAGAATGAAGGAGATAGTGTCAGGTTTCAGGTGGTCAATCCCTCTAGCTCCTGGAAGGAAAAAAAAGCAACGGAGAATTAACTTTGTATTGGTCTCAGCAGTTTCAGCTTCCTGAAATATAACCCCAAACCATTCTGCCTGCAGAAATGGCAGTCCCTATTTTTACAGCTGAAAGCTATGGAAGCTGCTCCTTAGAGAATGATACCTTAAAAGGGCCTGTGCAGTAGATATATTTTCTTCCCTCCAATATTTTTCACATAGATTAACCACTCATTCAAATTTTCTTACAAAGGAAGAAGACATAACACAAATGGAAGTAAATATTTGTCATGAAAAGGTTAATCTACAATGCACTTAGACAGCTAATAATAAGTAAAACATTTCCAAAGAAATAGGAACCTGGGATTGTCTCTTTTTAATAAATTACTTGGTATTATTTAAGCACTTCACTCCAAAAAGCTGATATTAAAAACAGAGAAAAAAAATCCTGGAAAGTTTAACTAGAAAGCAAGGGTTGTAAAGATTTGTGGCAGATGAAGGACTCAGCCTTTACTCTTCTCGAGTATGAAATTTAATTAAGTTCTCTGCTACTCAGCACAACTGGAAGAAACACAGCATCTAAAGTAGCACTAACAATGTTCCTTTGTCACAGACTAATGCTGACACTCTACTATTCTCTTAGCATCATGCTGGAAAATCAATGTAAATGGCTTGTGCTGTCTCATGCGAAATCCAAAATCACTGAGCACCTGCAATGTGCCAGGTAGTAGAAGAGGCACAGCAGGGGACACACGGATCAAAGAAAAAAAAATCACCCATGGTTTATTGCTACAAGCAATCTGTTGCTGGGCAGGAAGCTAGGGCAGAGCTGAGTGACCTGTGACATATAAGAAATGTGCTTTTGGCCGGGCACAGTGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAGAGAAAAAAAATTAGCTGGGCTTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTACAGTGAGCCGAGATTGTGCCACTGCATTCCAGCCTAGGTGAGAGAGCAAGACTCTGTTTCAGGCGGGGTGGACAGGGAAGAAAGAAAGAAATGTGCTTTTTACTATTTTTTTTTAATGAAGGGAAACGTGTAGGGAGGAAGCTAACATTCATTAACCAAGGCCTACATCAGGCCAGGCACTATGATAGACACTTAAAGTCTATTATCTCATTTAGACTTTACAACACTGAGAAGCAGATATTGTAAAGGAAATTAAGGTTCAAATAAGCTGAACTAACATCCAAGATCACAGTCCATGTAGCCCAGATTATCATGGGTGGAATAACATTCATGGGGCTTATAAATAATCAAGACGTCTTAGGAATACAACTCGAGAAGTTCCATAGCCCAACCCTAACTCAGATACCAAAACACAGGAGGTAGACATTTTCACACAAAACATAGGAAGGACAAACTGTTCCTCCAGCTGTTGAATCAATTTAAAGTACCAATTATTTGAGAAAAGCATGGGCCAGAAAACCTTACTGCCTTCACCAAGGACCGATAAGATTCTGTGGAATACTTTCTCCTTCAAATTCAATTTTTAAATTAAAAACTGAAATATAATTCTCATATCATAAAACTCATCCTTTTAAAGTGTACAATTCAGTGGTTTTTAGCATATTCACAAAGCTGTGCAACCACTGCTGTTATCTAATTCCAAAATATTTTCATCACCCCAAAAAGAAATCTTAATCACATTAGTAATCATNNNN
|
pathogenic
| 335,398 |
Considering the variant on chromosome X, location 69616316, involving gene EDA (ectodysplasin A), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia']
|
GAAAAAGCACAGTGACTTGCTCAGAGGGACCCAGCAACCTAGTGGCAGGATGAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAA
|
GAAAAAGCACAGTGACTTGCTCAGAGGGACCCAGCAACCTAGTGGCAGGATGAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAAN
|
pathogenic
| 335,429 |
Does the variant on chromosome X at location 69616367 affecting gene EDA (ectodysplasin A) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia']
|
GAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAATAGTTCTGTCTAGATTTAAACACAGCTTCCTATCTTCTGTCTTTTATTCTT
|
GAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAATAGTTCTGTCTAGATTTAAACACAGCTTCCTATCTTCTGTCTT
|
pathogenic
| 335,430 |
Chromosome X, position 69616551, gene EDA (ectodysplasin A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
TATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAATAGTTCTGTCTAGATTTAAACACAGCTTCCTATCTTCTGTCTTTTATTCTTTCTGTTTTAATATTTTTGAGCAATAGAAGCAAGGATACTAGCTCTTTACATTTGTTGACATCAATTGGAATCAGTTTCCTAGAGTTATGAAGGGCTTATATGAGTCCATTTCGTTTGATTCCCTTGGGAAACATAGGCCCTAAAGGGAAAGTGACTTGCCCAAGGTCACATAACTAGAGTCAAA
|
TATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAATAGTTCTGTCTAGATTTAAACACAGCTTCCTATCTTCTGTCTTTTATTCTTTCTGTTTTAATATTTTTGAGCAATAGAAGCAAGGATACTAGCTCTTTACATTTGTTGACATCAATTGGAATCAGTTTCCTAGAGTTATGAAGGGCTTATATGAGTCCATTTCGTTTGATTCCCTTGGGAAACATAGGCCCTAAAGGGAAAGTGACTTGCCCAAGGTCACATAACTAGAGTCAAANNNNNNNNN
|
benign
| 335,433 |
Is the variant located on chromosome X at position 69616559, gene EDA (ectodysplasin A), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia', 'Tooth_agenesis,_selective,_X-linked,_1']
|
ATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAATAGTTCTGTCTAGATTTAAACACAGCTTCCTATCTTCTGTCTTTTATTCTTTCTGTTTTAATATTTTTGAGCAATAGAAGCAAGGATACTAGCTCTTTACATTTGTTGACATCAATTGGAATCAGTTTCCTAGAGTTATGAAGGGCTTATATGAGTCCATTTCGTTTGATTCCCTTGGGAAACATAGGCCCTAAAGGGAAAGTGACTTGCCCAAGGTCACATAACTAGAGTCAAAACTGGGAT
|
ATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAATAGTTCTGTCTAGATTTAAACACAGCTTCCTATCTTCTGTCTTTTATTCTTTCTGTTTTAATATTTTTGAGCAATAGAAGCAAGGATACTAGCTCTTTACATTTGTTGACATCAATTGGAATCAGTTTCCTAGAGTTATGAAGGGCTTATATGAGTCCATTTCGTTTGATTCCCTTGGGAAACATAGGCCCTAAAGGGAAAGTGACTTGCCCAAGGTCACATAACTAGAGTCAAAACTGGGATN
|
pathogenic
| 335,434 |
Regarding the variant at chromosome X and position 69616579, affecting gene EDA (ectodysplasin A): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia']
|
CGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAATAGTTCTGTCTAGATTTAAACACAGCTTCCTATCTTCTGTCTTTTATTCTTTCTGTTTTAATATTTTTGAGCAATAGAAGCAAGGATACTAGCTCTTTACATTTGTTGACATCAATTGGAATCAGTTTCCTAGAGTTATGAAGGGCTTATATGAGTCCATTTCGTTTGATTCCCTTGGGAAACATAGGCCCTAAAGGGAAAGTGACTTGCCCAAGGTCACATAACTAGAGTCAAAACTGGGATGATAGTTGCTCTAACTCCTA
|
CGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAATAGTTCTGTCTAGATTTAAACACAGCTTCCTATCTTCTGTCTTTTATTCTTTCTGTTTTAATATTTTTGAGCAATAGAAGCAAGGATACTAGCTCTTTACATTTGTTGACATCAATTGGAATCAGTTTCCTAGAGTTATGAAGGGCTTATATGAGTCCATTTCGTTTGATTCCCTTGGGAAACATAGGCCCTAAAGGGAAAGTGACTTGCCCAAGGTCACATAACTAGAGTCAAAACTGGGATGATAGTTGCTCTAACTCCT
|
pathogenic
| 335,435 |
A mutation at chromosome position 69957126 on chromosome X in gene EDA (ectodysplasin A): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia']
|
TGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCGCAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTCTCTCTGGTCAAGGTCAAAGCCTCTCATTAATTT
|
TGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCGCAATAAAAGAAGCAAAAGCAATGAAGGAGAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTCTCTCTGGTCAAGGTCAAAGCCTCTCATTAATTTN
|
pathogenic
| 335,444 |
Variant at chromosome X, position 70027865, gene EDA (ectodysplasin A): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia', 'Tooth_agenesis,_selective,_X-linked,_1']
|
TCTAGGTCTTTAAGGCTACAGGGACTCTTCTGGGAGAGATGTTCTCTGGACCTTCCTTTCCTTCCTTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCT
|
TCTAGGTCTTTAAGGCTACAGGGACTCTTCTGGGAGAGATGTTCTCTGGACCTTCCTTTCCTTCCTTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 335,448 |
Is the variant located on chromosome X at position 70027876, gene EDA (ectodysplasin A), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia']
|
AAGGCTACAGGGACTCTTCTGGGAGAGATGTTCTCTGGACCTTCCTTTCCTTCCTTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAA
|
AAGGCTACAGGGACTCTTCTGGGAGAGATGTTCTCTGGACCTTCCTTTCCTTCCTTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 335,449 |
Does the chromosome X mutation at position 70027888 within gene EDA (ectodysplasin A) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['EDA-related_disorder', 'Hypohidrotic_X-linked_ectodermal_dysplasia', 'Tooth_agenesis,_selective,_X-linked,_1']
|
ACTCTTCTGGGAGAGATGTTCTCTGGACCTTCCTTTCCTTCCTTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTT
|
ACTCTTCTGGGAGAGATGTTCTCTGGACCTTCCTTTCCTTCCTTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTNNNNNNNNNNNNNNNNNN
|
pathogenic
| 335,450 |
Assess the variant on chromosome X, position 70027917, impacting EDA (ectodysplasin A): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia']
|
TTCCTTTCCTTCCTTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAG
|
TTCCTTTCCTTCCTTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 335,451 |
Located at chromosome X position 70027930, the variant affecting gene EDA (ectodysplasin A)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia', 'Tooth_agenesis,_selective,_X-linked,_1']
|
TTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCG
|
TTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGNNNNNNNNNNNNNNNNNN
|
pathogenic
| 335,452 |
A mutation at chromosome position 70027972 on chromosome X in gene EDA (ectodysplasin A): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['EDA-related_disorder', 'Hypohidrotic_X-linked_ectodermal_dysplasia']
|
CAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAGTCTTTGAGCT
|
CAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAGTCTTTGAGCTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 335,456 |
Benign or pathogenic: chromosome X, position 70027978, gene EDA (ectodysplasin A) variant? Disease(s) if pathogenic?
|
pathogenic; ['Anhidrotic_ectodermal_dysplasia', 'Hypohidrotic_X-linked_ectodermal_dysplasia']
|
CAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAGTCTTTGAGCTTCCTAA
|
CAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAGTCTTTGAGCTTCCTAANNNNNNNNNNNNNNNNNN
|
pathogenic
| 335,457 |
Gene EDA (ectodysplasin A) variant at chromosome position 70027984 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia']
|
TGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAGTCTTTGAGCTTCCTAATCTGTC
|
TGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAGTCTTTGAGCTTCCTAATCTGTCNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 335,458 |
Chromosome X, position 70028046, gene EDA (ectodysplasin A): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
benign
|
ATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAGTCTTTGAGCTTCCTAATCTGTCTCTATTGGCAGGTTCTACTGCCTTGCCTTGTCTCATCTCAGCCTCCCTTGCTACAGCTGTGT
|
ATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAGTCTTTGAGCTTCCTAATCTGTCTCTATTGGCAGGTTCTACTGCCTTGCCTTGTCTCATCTCAGCCTCCCTTGCTACAGCTGTGTNN
|
benign
| 335,461 |
A genetic alteration at chromosome X, position 70033424, in gene EDA (ectodysplasin A)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia']
|
CTTCCCCCAAAGAAACATGAACATTCATGAAAGAACAGCACTTTGGAATAATGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGC
|
CTTCCCCCAAAGAAACATGAACATTCATGAAAGAACAGCACTTTGGAATAATGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCN
|
pathogenic
| 335,471 |
The genetic variant at chromosome X, position 70402701, affecting gene KIF4A (kinesin family member 4A): benign or pathogenic? Disease name(s) if pathogenic?
|
benign
|
AGCCAGACATTACAGAGATTTGCAAAAGTGTAAAATAATTCCTTTTCTTACTATTTATTATCTCAGAAAATGCTACTTTTCAGAAAATATGTAATGTATAATAGGTTTATGTTTTTTTTTTGTTTTTGTTTTTTTGACAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAATGACGTGATCTCGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCCAGCTAATTTTTTGTATTTTTAGTAGATACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGCTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACGGGAGTGAGCCACCGCGCCCCGCCAATAGGTTTATGATTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCGCTGCAACCTCCGACTTGCTGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGAATTACAGGCACACGCCACCACCCCTAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATAATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAACTACCTCGCCCAGCCTAGGTTTATGATTTTTAAGTGAATTAATTTTTTTTTTTTTTGAGATGGAGTATTGCTCTGTCTCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCCCCACCTCCCGGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCAGGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCTAAAATTTTTTTCAGTTGTACTTTCTAATACTATAAATCTCTATAGGTATAACACATGTGAACAGAATGTCCTAGATGTCTTCAATAATTTTTAAGGGTGTAAAGGGGTCCTGAAACCCCAAAATTTGAGAACTACAGTCTTAGATTATTTTCATACCCATCTTCCTTATAGTACCAAACTTATCACTGCATATGAAGCACATGCTGGTATACTCTTTCTCACTAGACACAGAAGAAATTTGAGAAGAAAGCTATTAATTAAACTGAAATACTGTGTAGATTTTGGTCTAGGACATACTTGATCAGAAAGTACCCAGAAGCTATAACCAGGGTCAGAATATCTAGTCTTCTTAGAAACTTCTCGGTCTTGTGGCAGGCACATCAAGATAACCTCTCACAATGCCAGCCATGGGTATCATTTTGGTACTTGATTGTAGTAAAGAGCATATCTACCTGTTCTTTTGAGCTTTTTCCTTCAAGTCTCCAACCTGAATCTTATCCTTGCATGGGTGGACCATCATGTCACAGTCTGAGCTTATATGGCCTCAAGACAAAGTAACATATTATACTTAATCCACTACAACAAAAGCCTTACTGTGATAAGTCTTTCCAAGTCCCACTTTATGACCCATTTATTTCAACCAGTATTTAATGGAATAAAACCATTTAAATAGTCTCTTAGAGTCCCTTTGTTACAAGATTTGCGATACTATGTAAAATCCTAACCAGATGACTTAAACATTATTTAAATGATATTTAACTGATAGCTCCATCCATAAAATTATTTGAAGTTTCTCCTCAGAGCTCTTCCCCCTTCTTGATGTTCAGGCTACTTGCAATAAGGCTTACTGTTTCTTTCCCTGAAGGAGTGCTCAGATTGCTGACCTACAGCAGAAGCTGCTGGATGCAGAAAGTGAAGACAGACCAAAACAACGCTGGGAGAATATTGCCACCATTCTGGAAGCCAAGTGTGCCCTGAAATATTTGATTGGAGAGGTAAACATCACTCTAACCAGCAGTTAGGAGGCTGGCTGTGTAGGTTGAAATGGGATGTTAGCCTTGAAATATTGTCAAAGTGTTATTGCCACTTTTCATGGTAGAAACCCTAATAACACTAACATTAGAGAGTTTAGTAGATAAAGGTTGGTGTAAGCAAGTACAGGCCAGTCACTTACAAAAATATAATATGACTCACAAATTGATGCCCGTTGTGACTGGCCTATAGCAAGTGCTGAATGCGTGTTAGCTGTTGTTATTAGGAAAGACCAGAATGCCATAGTGGGTCACTGGCTAAACATCAACTGTTATACTGTACTACTTTTTAAAACCCCTATGAGATGTATATTCAAAAATTTAAGATCCAGTCTAGAAAAGGGAAAACCTAAGCATCTTTTGACATATAAAGATTCATTTTAGGGAAAAGCCATCTTTGCTGACCTTAAAATGATATGTCACCTTACGTTGTCACAAGAGGAATGAAAATTGATTGCCTCTGGTGATTGAAGCATTTTCACTCAAGATAAGCATACAAACTCCAAACCCACAAGTTTAAACAATGCTACCCTTTATACATTTTTGTGTTAGCTTAGCAGATTTGTTCTACTAAGGAAATCTTGATCAGTCTTGTGAACACTGGTACTTATGATGTTCACCATCTGGGCTAGTAGTGAATGTAAAACTAGGCCAGTGTAGGATATGTAGCCTGAAGAGCCAGATCTGCAGTCTCAGTCTACAAGTTCTAACATGTGAATATAGACATTCTGAAATGGGACATAATTGGCCATAAGGGTGTGTCCTGTGGATTTTGCTTAAAAATTAAGGAAGAACTTCTTAAATATCAGAATTTGTAATTGTCAGATACTATTCGGGTTAGCTTTATTCTTGCCTTGAGGCAGAGCAAGAAATAAAATGGCCTTAGCAGTGGCTTCTAGCCCCAAGATACATGTCTCAGCAGAAATGTGGACTCTTGGCCTGGGAATAGAACAATAGTATATTTACTATTCAATGTTGGAATCCATATGACATGAAAAAATAAGAATAGACTTGAACATGGAGGAATTTTTCTCAGACCCTTTCAAGAAAGCTGACATTATCCTGCCTGTTGAAAGGGGGAAAGAAAGGTGGTCATTCTTCAAATAAACTGATCTTCTTTTATTCCTTCCAGCTGGTCTCCTCCAAAATACAGGTCAGCAAACTTGAAAGCAGCCTGAAACAGAGCAAGACCAGCTGTGCTGACATGCAGAAGATGCTGTTTGAGGAACGAAATCATTTTGCCGAGATAGAGACAGAGTTACAAGCTGAGCTGGTCAGAATGGAGCAACAGCACCAAGAGAAGGTAAACTCTAGCAAGTCAAGAAGCTATACTGTGAAACTATCATTGCCTTGTATTGTTAGTTTTAAAAAAAAAGTGGGGATATGAAATTTCTTTCAAAAGTCCACGTGGCCTTTTCTAAATTTTGCAAATAAAAAGAAACCTGAAGCAGAGACGTGACTTGTCTAACTTTATACATACCAGTGACAATGGCTCTGGGTTTCCAACTTAAATATGAATATTAACAATATTAACATGCTGAGAAACAGGCCCAGCGTGGTGGCTCGTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATTGCTTGAGTCCAGGAGAGTGAAACCCCATCTCTACAAAAAATTACAGGAAATTAGCTGAGTGTGATGGTGTGCACCTGTGATCCCAGCCACTCATAAGGCTGAAGTGGGAGAATCGCTTGAACCCGTGAGGCAGAGGTTGCTGTGAGCCATGATCGTGCCATTGCACTGCAGCCTGGGCAACAGAAAGAAAAAAAAAAACTATGCTGAGAAACATCCATGCTGTACTTACTACTTCATGCCATGACAGCAAATGAGAACAGTTTACTTCTAAATCACAAGAGAGCAGTCACCTGGATCACTGCTTGAACTAAGTCAAAATTTCTTTTTCCCCTTGGTACCTTTGTTACCACCCATTGGATCGTGTCTTTCTCTAGGTGCTGTACCTTCTCAGCCAGCTGCAGCAAAGCC
|
AGCCAGACATTACAGAGATTTGCAAAAGTGTAAAATAATTCCTTTTCTTACTATTTATTATCTCAGAAAATGCTACTTTTCAGAAAATATGTAATGTATAATAGGTTTATGTTTTTTTTTTGTTTTTGTTTTTTTGACAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAATGACGTGATCTCGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCCAGCTAATTTTTTGTATTTTTAGTAGATACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGCTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACGGGAGTGAGCCACCGCGCCCCGCCAATAGGTTTATGATTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCGCTGCAACCTCCGACTTGCTGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGAATTACAGGCACACGCCACCACCCCTAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATAATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAACTACCTCGCCCAGCCTAGGTTTATGATTTTTAAGTGAATTAATTTTTTTTTTTTTTGAGATGGAGTATTGCTCTGTCTCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCCCCACCTCCCGGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCAGGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCTAAAATTTTTTTCAGTTGTACTTTCTAATACTATAAATCTCTATAGGTATAACACATGTGAACAGAATGTCCTAGATGTCTTCAATAATTTTTAAGGGTGTAAAGGGGTCCTGAAACCCCAAAATTTGAGAACTACAGTCTTAGATTATTTTCATACCCATCTTCCTTATAGTACCAAACTTATCACTGCATATGAAGCACATGCTGGTATACTCTTTCTCACTAGACACAGAAGAAATTTGAGAAGAAAGCTATTAATTAAACTGAAATACTGTGTAGATTTTGGTCTAGGACATACTTGATCAGAAAGTACCCAGAAGCTATAACCAGGGTCAGAATATCTAGTCTTCTTAGAAACTTCTCGGTCTTGTGGCAGGCACATCAAGATAACCTCTCACAATGCCAGCCATGGGTATCATTTTGGTACTTGATTGTAGTAAAGAGCATATCTACCTGTTCTTTTGAGCTTTTTCCTTCAAGTCTCCAACCTGAATCTTATCCTTGCATGGGTGGACCATCATGTCACAGTCTGAGCTTATATGGCCTCAAGACAAAGTAACATATTATACTTAATCCACTACAACAAAAGCCTTACTGTGATAAGTCTTTCCAAGTCCCACTTTATGACCCATTTATTTCAACCAGTATTTAATGGAATAAAACCATTTAAATAGTCTCTTAGAGTCCCTTTGTTACAAGATTTGCGATACTATGTAAAATCCTAACCAGATGACTTAAACATTATTTAAATGATATTTAACTGATAGCTCCATCCATAAAATTATTTGAAGTTTCTCCTCAGAGCTCTTCCCCCTTCTTGATGTTCAGGCTACTTGCAATAAGGCTTACTGTTTCTTTCCCTGAAGGAGTGCTCAGATTGCTGACCTACAGCAGAAGCTGCTGGATGCAGAAAGTGAAGACAGACCAAAACAACGCTGGGAGAATATTGCCACCATTCTGGAAGCCAAGTGTGCCCTGAAATATTTGATTGGAGAGGTAAACAATCACTCTAACCAGCAGTTAGGAGGCTGGCTGTGTAGGTTGAAATGGGATGTTAGCCTTGAAATATTGTCAAAGTGTTATTGCCACTTTTCATGGTAGAAACCCTAATAACACTAACATTAGAGAGTTTAGTAGATAAAGGTTGGTGTAAGCAAGTACAGGCCAGTCACTTACAAAAATATAATATGACTCACAAATTGATGCCCGTTGTGACTGGCCTATAGCAAGTGCTGAATGCGTGTTAGCTGTTGTTATTAGGAAAGACCAGAATGCCATAGTGGGTCACTGGCTAAACATCAACTGTTATACTGTACTACTTTTTAAAACCCCTATGAGATGTATATTCAAAAATTTAAGATCCAGTCTAGAAAAGGGAAAACCTAAGCATCTTTTGACATATAAAGATTCATTTTAGGGAAAAGCCATCTTTGCTGACCTTAAAATGATATGTCACCTTACGTTGTCACAAGAGGAATGAAAATTGATTGCCTCTGGTGATTGAAGCATTTTCACTCAAGATAAGCATACAAACTCCAAACCCACAAGTTTAAACAATGCTACCCTTTATACATTTTTGTGTTAGCTTAGCAGATTTGTTCTACTAAGGAAATCTTGATCAGTCTTGTGAACACTGGTACTTATGATGTTCACCATCTGGGCTAGTAGTGAATGTAAAACTAGGCCAGTGTAGGATATGTAGCCTGAAGAGCCAGATCTGCAGTCTCAGTCTACAAGTTCTAACATGTGAATATAGACATTCTGAAATGGGACATAATTGGCCATAAGGGTGTGTCCTGTGGATTTTGCTTAAAAATTAAGGAAGAACTTCTTAAATATCAGAATTTGTAATTGTCAGATACTATTCGGGTTAGCTTTATTCTTGCCTTGAGGCAGAGCAAGAAATAAAATGGCCTTAGCAGTGGCTTCTAGCCCCAAGATACATGTCTCAGCAGAAATGTGGACTCTTGGCCTGGGAATAGAACAATAGTATATTTACTATTCAATGTTGGAATCCATATGACATGAAAAAATAAGAATAGACTTGAACATGGAGGAATTTTTCTCAGACCCTTTCAAGAAAGCTGACATTATCCTGCCTGTTGAAAGGGGGAAAGAAAGGTGGTCATTCTTCAAATAAACTGATCTTCTTTTATTCCTTCCAGCTGGTCTCCTCCAAAATACAGGTCAGCAAACTTGAAAGCAGCCTGAAACAGAGCAAGACCAGCTGTGCTGACATGCAGAAGATGCTGTTTGAGGAACGAAATCATTTTGCCGAGATAGAGACAGAGTTACAAGCTGAGCTGGTCAGAATGGAGCAACAGCACCAAGAGAAGGTAAACTCTAGCAAGTCAAGAAGCTATACTGTGAAACTATCATTGCCTTGTATTGTTAGTTTTAAAAAAAAAGTGGGGATATGAAATTTCTTTCAAAAGTCCACGTGGCCTTTTCTAAATTTTGCAAATAAAAAGAAACCTGAAGCAGAGACGTGACTTGTCTAACTTTATACATACCAGTGACAATGGCTCTGGGTTTCCAACTTAAATATGAATATTAACAATATTAACATGCTGAGAAACAGGCCCAGCGTGGTGGCTCGTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATTGCTTGAGTCCAGGAGAGTGAAACCCCATCTCTACAAAAAATTACAGGAAATTAGCTGAGTGTGATGGTGTGCACCTGTGATCCCAGCCACTCATAAGGCTGAAGTGGGAGAATCGCTTGAACCCGTGAGGCAGAGGTTGCTGTGAGCCATGATCGTGCCATTGCACTGCAGCCTGGGCAACAGAAAGAAAAAAAAAAACTATGCTGAGAAACATCCATGCTGTACTTACTACTTCATGCCATGACAGCAAATGAGAACAGTTTACTTCTAAATCACAAGAGAGCAGTCACCTGGATCACTGCTTGAACTAAGTCAAAATTTCTTTTTCCCCTTGGTACCTTTGTTACCACCCATTGGATCGTGTCTTTCTCTAGGTGCTGTACCTTCTCAGCCAGCTGCAGCAAAGC
|
benign
| 335,511 |
Evaluate this variant at chromosome X, position 71108290, gene IL2RG (interleukin 2 receptor subunit gamma): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['X-linked_severe_combined_immunodeficiency']
|
TGAGGAACTCCCTTCTTGCCAGGAGGAGGGCTTGGGGGTTAGAGATGACCCAACTCCTTCTGACCTTTGGCCATTAGTCCCCTCCCTAAGCTCCTCACTTGTTTTAGGCAACTTTACTTTACTGCGGATGTAATACAGCAACACGACGACAGCACAGTTGGTATTGACCAGAAACTGCTGATTATCTGAGAAGAGATAGGATGGGACACATGGGCCCATTTCTGTGATCTCCACTGCCCTCAGATCCCTCCACCCCCATCCACAGACTCTAGTTCTGTGCTGCCCCTCACCTCCATGTTTGATGAAGATGAACATGCCCTCAAGATCGCCTCACTCTTCACAAAGTGCCCTGATGAGTCATGCAGAAGGAGGGTGTTCTAGAGGCCTTGTGTGGGGCAAATAGGCCTATAGGGTTGGTGGACTAGAGAGGCAGATGGATTTCATAGGCTGAGGATGCCCAGGCTGGACAGGCAGGAGAGAGCTGTTGATAGTTGTGGATAACCAGTATCCCCAGGGGTGGGGCCTGAGACTGCAGTTAAGGGATTATGAGGTCAGAAGTGGCAGGTGTGGCCAAAAAGTGGAGTAAGGGTAAGGAGAGAAAAACTTGGGTGGGGTATGTTAAAGATTAGTTGGAAAGGGGGGACAACATGGTAAGTCTAACTTTTTTTATTTTTTTTATTTTTTTAGATGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCATCCTCTACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGAGCACACCATCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCCACCCGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCATTGTAAGTCTAACTCTAAACTAAACCCTGGAATGAGTGCAGGGCACCTGGAAAAAAGTCAGTTTCCAGAACAGTACTCTTTCTAGCAAATTGGTAATACTCCTGCCTCCACAGCATGAATGTACTACTCCTTTTTCTTCCCCTCCCACCCTCATTGCATCCCAGGCTTCCCCTGCTCCCCACCCCCATGACAGACATTTTTGATGATTATCAACAGAAACTTTATTTCTCATCGGTTCAGGAACAATCGGAGGGTAGATGGAAAGAGGAAGGGAGGGAAAGAGGGAGGGAGGAAGAATCCTGCGAAAAGGAAGGGCCAGACTGAGGGAGAAGAAAAACATGTTCGGGGCAAAAGGGTAATTCTCAAGTGGGGAATGCCAAATGAAGGGGTGCTTACATGGGGGCACAAAATTCCAAATCAGCCACAGTGGGGTGAGGTGAGTATGAGACGCAGGTGGGTTGAATGAAGGAAAGTTAGTACCACTTAGGGCTACAGGACCCTGGGGTTCTTCTGTCAGAGGATTGGGGTTCAGGTTTCAGGCTTTAGGGTGTAACATGGGGGGGCCCAGTAGGGGCTATGCTGGTTGCATGGGGAGGCCCCAGGCCCCTCCCCAAGGGCCCCTCCTTTTGGGGGAATCTCACTGACGAGGCAGAGTCGTTCACTGTAGTCTGGCTGCAGACTCTCAGCCAGTCCCTTAGACACACCACTCCAGGCCTAAAGACAGATATGTCCAGGTCAGGGGTCAATTAGGGGCAGGAAGTAAAAGACCGAGCTCTGTGCCAAAGGAGTACTCATGATGTCTGCAACCACTGTAATTGATTACAGAAGGGATACACAGGCTCCTGGGCCCCCAATACCAGTTGCCATCTGCCTCATTCAATCTATAATCTGCACTTCTGTGTGTGTCTCTCTCTGTATAGTCCATGCCCCATTTGGTCGGCCACATCCTGACAGTTAGTGCAGGGCCTCCTTCCCTCTCCTCTCTGCCCCCACCCCCACACTCTGTCTGTCTTGCTGGCAGGCAGTTGGCAGTTGATAGACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGA
|
TGAGGAACTCCCTTCTTGCCAGGAGGAGGGCTTGGGGGTTAGAGATGACCCAACTCCTTCTGACCTTTGGCCATTAGTCCCCTCCCTAAGCTCCTCACTTGTTTTAGGCAACTTTACTTTACTGCGGATGTAATACAGCAACACGACGACAGCACAGTTGGTATTGACCAGAAACTGCTGATTATCTGAGAAGAGATAGGATGGGACACATGGGCCCATTTCTGTGATCTCCACTGCCCTCAGATCCCTCCACCCCCATCCACAGACTCTAGTTCTGTGCTGCCCCTCACCTCCATGTTTGATGAAGATGAACATGCCCTCAAGATCGCCTCACTCTTCACAAAGTGCCCTGATGAGTCATGCAGAAGGAGGGTGTTCTAGAGGCCTTGTGTGGGGCAAATAGGCCTATAGGGTTGGTGGACTAGAGAGGCAGATGGATTTCATAGGCTGAGGATGCCCAGGCTGGACAGGCAGGAGAGAGCTGTTGATAGTTGTGGATAACCAGTATCCCCAGGGGTGGGGCCTGAGACTGCAGTTAAGGGATTATGAGGTCAGAAGTGGCAGGTGTGGCCAAAAAGTGGAGTAAGGGTAAGGAGAGAAAAACTTGGGTGGGGTATGTTAAAGATTAGTTGGAAAGGGGGGACAACATGGTAAGTCTAACTTTTTTTATTTTTTTTATTTTTTTAGATGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCATCCTCTACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGAGCACACCATCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCCACCCGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCATTGTAAGTCTAACTCTAAACTAAACCCTGGAATGAGTGCAGGGCACCTGGAAAAAAGTCAGTTTCCAGAACAGTACTCTTTCTAGCAAATTGGTAATACTCCTGCCTCCACAGCATGAATGTACTACTCCTTTTTCTTCCCCTCCCACCCTCATTGCATCCCAGGCTTCCCCTGCTCCCCACCCCCATGACAGACATTTTTGATGATTATCAACAGAAACTTTATTTCTCATCGGTTCAGGAACAATCGGAGGGTAGATGGAAAGAGGAAGGGAGGGAAAGAGGGAGGGAGGAAGAATCCTGCGAAAAGGAAGGGCCAGACTGAGGGAGAAGAAAAACATGTTCGGGGCAAAAGGGTAATTCTCAAGTGGGGAATGCCAAATGAAGGGGTGCTTACATGGGGGCACAAAATTCCAAATCAGCCACAGTGGGGTGAGGTGAGTATGAGACGCAGGTGGGTTGAATGAAGGAAAGTTAGTACCACTTAGGGCTACAGGACCCTGGGGTTCTTCTGTCAGAGGATTGGGGTTCAGGTTTCAGGCTTTAGGGTGTAACATGGGGGGGCCCAGTAGGGGCTATGCTGGTTGCATGGGGAGGCCCCAGGCCCCTCCCCAAGGGCCCCTCCTTTTGGGGGAATCTCACTGACGAGGCAGAGTCGTTCACTGTAGTCTGGCTGCAGACTCTCAGCCAGTCCCTTAGACACACCACTCCAGGCCTAAAGACAGATATGTCCAGGTCAGGGGTCAATTAGGGGCAGGAAGTAAAAGACCGAGCTCTGTGCCAAAGGAGTACTCATGATGTCTGCAACCACTGTAATTGATTACAGAAGGGATACACAGGCTCCTGGGCCCCCAATACCAGTTGCCATCTGCCTCATTCAATCTATAATCTGCACTTCTGTGTGTGTCTCTCTCTGTATAGTCCATGCCCCATTTGGTCGGCCACATCCTGACAGTTAGTGCAGGGCCTCCTTCCCTCTCCTCTCTGCCCCCACCCCCACACTCTGTCTGTCTTGCTGGCAGGCAGTTGGCAGTTGATAGACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGANNNNNNNN
|
pathogenic
| 335,549 |
Located at chromosome X position 71110171, the variant affecting gene IL2RG (interleukin 2 receptor subunit gamma)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['X-linked_severe_combined_immunodeficiency']
|
TATAGTCCATGCCCCATTTGGTCGGCCACATCCTGACAGTTAGTGCAGGGCCTCCTTCCCTCTCCTCTCTGCCCCCACCCCCACACTCTGTCTGTCTTGCTGGCAGGCAGTTGGCAGTTGATAGACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCC
|
TATAGTCCATGCCCCATTTGGTCGGCCACATCCTGACAGTTAGTGCAGGGCCTCCTTCCCTCTCCTCTCTGCCCCCACCCCCACACTCTGTCTGTCTTGCTGGCAGGCAGTTGGCAGTTGATAGACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCNNNN
|
pathogenic
| 335,565 |
A mutation at chromosome position 71110598 on chromosome X in gene IL2RG (interleukin 2 receptor subunit gamma): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['X-linked_severe_combined_immunodeficiency']
|
ATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCCCAACGGTTTCCTCCTTTCCATTACCACAGCCACTCTGCTAAATCAGTCTTTCATTAGCTCTAGTCATGATTCTATCTAGACTCCATCAACTGGCCTCCCTTTCTAAAGGCCCTCTGCTCTCTAATCCATTCTTCATCCTGTTGCCAGTTTTACCTTCCCCGAAAACACAGAGGTGATTGGAGAAGCCACTTACAGAAACTATTTATTCAGCAAACATTTATTACGTTTTTAATATGTGCCAGGCACTGTGCTTATGTTCTGGAAATAGACCAACAAGACATCCTCATATTTCTAGACACTCAC
|
ATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCATTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCCCAACGGTTTCCTCCTTTCCATTACCACAGCCACTCTGCTAAATCAGTCTTTCATTAGCTCTAGTCATGATTCTATCTAGACTCCATCAACTGGCCTCCCTTTCTAAAGGCCCTCTGCTCTCTAATCCATTCTTCATCCTGTTGCCAGTTTTACCTTCCCCGAAAACACAGAGGTGATTGGAGAAGCCACTTACAGAAACTATTTATTCAGCAAACATTTATTACGTTTTTAATATGTGCCAGGCACTGTGCTTATGTTCTGGAAATAGACCAACAAGACATCCTCATATTTCTAGACACTCA
|
pathogenic
| 335,573 |
Determine whether the variant at chromosome X, position 71110663, in gene IL2RG (interleukin 2 receptor subunit gamma) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['X-linked_severe_combined_immunodeficiency']
|
ACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCCCAACGGTTTCCTCCTTTCCATTACCACAGCCACTCTGCTAAATCAGTCTTTCATTAGCTCTAGTCATGATTCTATCTAGACTCCATCAACTGGCCTCCCTTTCTAAAGGCCCTCTGCTCTCTAATCCATTCTTCATCCTGTTGCCAGTTTTACCTTCCCCGAAAACACAGAGGTGATTGGAGAAGCCACTTACAGAAACTATTTATTCAGCAAACATTTATTACGTTTTTAATATGTGCCAGGCACTGTGCTTATGTTCTGGAAATAGACCAACAAGACATCCTCATATTTCTAGACACTCACAGAAAAGTGGGGAAGACATAAACAAGTAATACAACATAGTGTAACAAGTCCTATAGCATAAATGT
|
ACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCCCAACGGTTTCCTCCTTTCCATTACCACAGCCACTCTGCTAAATCAGTCTTTCATTAGCTCTAGTCATGATTCTATCTAGACTCCATCAACTGGCCTCCCTTTCTAAAGGCCCTCTGCTCTCTAATCCATTCTTCATCCTGTTGCCAGTTTTACCTTCCCCGAAAACACAGAGGTGATTGGAGAAGCCACTTACAGAAACTATTTATTCAGCAAACATTTATTACGTTTTTAATATGTGCCAGGCACTGTGCTTATGTTCTGGAAATAGACCAACAAGACATCCTCATATTTCTAGACACTCACAGAAAAGTGGGGAAGACATAAACAAGTAATACAACATAGTGTAACAAGTCCTATAGCATAAATGTN
|
pathogenic
| 335,579 |
Classify the chromosome X variant at position 71110940 affecting gene IL2RG (interleukin 2 receptor subunit gamma) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['X-linked_severe_combined_immunodeficiency']
|
AAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCCCAACGGTTTCCTCCTTTCCATTACCACAGCCACTCTGCTAAATCAGTCTTTCATTAGCTCTAGTCATGATTCTATCTAGACTCCATCAACTGGCCTCCCTTTCTAAAGGCCCTCTGCTCTCTAATCCATTCTTCATCCTGTTGCCAGTTTTACCTTCCCCGAAAACACAGAGGTGATTGGAGAAGCCACTTACAGAAACTATTTATTCAGCAAACATTTATTACGTTTTTAATATGTGCCAGGCACTGTGCTTATGTTCTGGAAATAGACCAACAAGACATCCTCATATTTCTAGACACTCACAGAAAAGTGGGGAAGACATAAACAAGTAATACAACATAGTGTAACAAGTCCTATAGCATAAATGTAGAGATACTACAAAGTATGTGAGCACAGAAGAGGAAGTAACTAAATTTACCAAGATGGAGAGGGGGATAGTTTAGTGAAGGCTGTGCTGAAGAGGTGCTATTTCAGTGGCATCTTAAAGAATGAGTGTAATTTTACCAGACAGAAAGTGGTGTAGGATATTAAGCAAAGAAAAACAGCACTTGCCTGGGAGTCTCAGGAAAACTGGACTATATGGCCCAGCTTAGTATTTAGTATGTATCTTTAGTATGTATTAGTTTGCTAGGGCTGCCATAAGTT
|
AAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTAGCAGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCCCAACGGTTTCCTCCTTTCCATTACCACAGCCACTCTGCTAAATCAGTCTTTCATTAGCTCTAGTCATGATTCTATCTAGACTCCATCAACTGGCCTCCCTTTCTAAAGGCCCTCTGCTCTCTAATCCATTCTTCATCCTGTTGCCAGTTTTACCTTCCCCGAAAACACAGAGGTGATTGGAGAAGCCACTTACAGAAACTATTTATTCAGCAAACATTTATTACGTTTTTAATATGTGCCAGGCACTGTGCTTATGTTCTGGAAATAGACCAACAAGACATCCTCATATTTCTAGACACTCACAGAAAAGTGGGGAAGACATAAACAAGTAATACAACATAGTGTAACAAGTCCTATAGCATAAATGTAGAGATACTACAAAGTATGTGAGCACAGAAGAGGAAGTAACTAAATTTACCAAGATGGAGAGGGGGATAGTTTAGTGAAGGCTGTGCTGAAGAGGTGCTATTTCAGTGGCATCTTAAAGAATGAGTGTAATTTTACCAGACAGAAAGTGGTGTAGGATATTAAGCAAAGAAAAACAGCACTTGCCTGGGAGTCTCAGGAAAACTGGACTATATGGCCCAGCTTAGTATTTAGTATGTATCTTTAGTATGTATTAGTTTGCTAGGGCTGCCATA
|
pathogenic
| 335,585 |
Evaluate if the mutation on chromosome X at position 71111039 in IL2RG is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['X-linked_severe_combined_immunodeficiency']
|
TATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCCCAACGGTTTCCTCCTTTCCATTACCACAGCCACTCTGCTAAATCAGTCTTTCATTAGCTCTAGTCATGATTCTATCTAGACTCCATCAACTGGCCTCCCTTTCTAAAGGCCCTCTGCTCTCTAATCCATTCTTCATCCTGTTGCCAGTTTTACCTTCCCCGAAAACACAGAGGTGATTGGAGAAGCCACTTACAGAAACTATTTATTCAGCAAACATTTATTACGTTTTTAATATGTGCCAGGCACTGTGCTTATGTTCTGGAAATAGACCAACAAGACATCCTCATATTTCTAGACACTCACAGAAAAGTGGGGAAGACATAAACAAGTAATACAACATAGTGTAACAAGTCCTATAGCATAAATGTAGAGATACTACAAAGTATGTGAGCACAGAAGAGGAAGTAACTAAATTTACCAAGATGGAGAGGGGGATAGTTTAGTGAAGGCTGTGCTGAAGAGGTGCTATTTCAGTGGCATCTTAAAGAATGAGTGTAATTTTACCAGACAGAAAGTGGTGTAGGATATTAAGCAAAGAAAAACAGCACTTGCCTGGGAGTCTCAGGAAAACTGGACTATATGGCCCAGCTTAGTATTTAGTATGTATCTTTAGTATGTATTAGTTTGCTAGGGCTGCCATAAGTTATCCCCAAACTGAGTGGCTTAAACCAACAGAAATTTATTCTCTCGGCTGGGTGCAGTGACTCACGCCTGCAATCCCAGCACTTTGGGAGGCCAAGGCAG
|
TATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCCCAACGGTTTCCTCCTTTCCATTACCACAGCCACTCTGCTAAATCAGTCTTTCATTAGCTCTAGTCATGATTCTATCTAGACTCCATCAACTGGCCTCCCTTTCTAAAGGCCCTCTGCTCTCTAATCCATTCTTCATCCTGTTGCCAGTTTTACCTTCCCCGAAAACACAGAGGTGATTGGAGAAGCCACTTACAGAAACTATTTATTCAGCAAACATTTATTACGTTTTTAATATGTGCCAGGCACTGTGCTTATGTTCTGGAAATAGACCAACAAGACATCCTCATATTTCTAGACACTCACAGAAAAGTGGGGAAGACATAAACAAGTAATACAACATAGTGTAACAAGTCCTATAGCATAAATGTAGAGATACTACAAAGTATGTGAGCACAGAAGAGGAAGTAACTAAATTTACCAAGATGGAGAGGGGGATAGTTTAGTGAAGGCTGTGCTGAAGAGGTGCTATTTCAGTGGCATCTTAAAGAATGAGTGTAATTTTACCAGACAGAAAGTGGTGTAGGATATTAAGCAAAGAAAAACAGCACTTGCCTGGGAGTCTCAGGAAAACTGGACTATATGGCCCAGCTTAGTATTTAGTATGTATCTTTAGTATGTATTAGTTTGCTAGGGCTGCCATAAGTTATCCCCAAACTGAGTGGCTTAAACCAACAGAAATTTATTCTCTCGGCTGGGTGCAGTGACTCACGCCTGCAATCCCAGCACTTTGGGAGGCCAAGGCAGN
|
pathogenic
| 335,595 |
Is the chromosome X, position 71119486 variant in MED12 (mediator complex subunit 12) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
benign
|
TTGTTTATTGTTATTTGTTACTTTTGTTACAGCACACTGGCTGTCTTTTCTCTAAAAGGCAATACAAGGCCGGCACAGTGGCGCACGCCTGTAGTCCAGGCTACTGGGAGGCTGAGGCGGGAGGATCGCTGGAGTCCAGAAGGTTGATGCTGCAGTGAGCCGTGATAGCGCCACTGCACTCCAGCCTAGGCGACAGAGGGAGAACCTGCCTCAAAATAAACAAATAGCAATACGACAATAGGATATTGGCTCTGGAATTCAGAATCTTAGTGCCAGCTCTGTTACTCAGTAGCTGTATAATATTGGATAAGTGAATTTTCACACTTTGAAAACCAGCTTCCTCCATCCGCAAAATCGAGCCAATAATAATCCCTAACTCATGAGGCTGTGAGCAGATTAAAGGAGATAGTGTCTGAAAAGCATCTGACACAATAGGTGCCTCTTTAGCTAGACCAAGGGTTCTTAACCTGGAGTTCATGGACCCTTAGGGGATACATGGATGAACTTCAGGGGATCTAAGAATCTAAAGCAACATTTTGCATGTCAATATATGCATATTATTATTATTATTATTATTATTTCTGGGAAGAAGGTCCATAGCTTTCATCAGCACCTTTAAGGGTTTGTGAATCAAAAACGTTAGTATGCGGTACCCTTGGGCAGAAAAACAAACAAGAAAAGGTTAGACAACTCGATGGTAGACCTTGAGGGATTAGAGCCAGCCTTTCAGGGTTTAATAGGTTCTTTCTCATGCATACATAGTTTCTAATGTTCACAATAGCCCCTTGAAGGAGGTGTTAGCGCACCTATTTTTCAGATGCCGGAACTAAGAAACGAACTGATCTGTAATAGACGGAGTTCCTAACCAATGCAAATATTATTGAAGACTTTTCTAGGCCAAAACCGAGCTAGGCTATGGGAACCGAAGTCCAGTCAGAACTCAGCACCACAGAGGCCTCCTTCTTCCCTGGTTTGCATCCCCAGCTCATTCTGCGCCTCCGGAACGTTTCATAGATTTTTGCTGAGTGAAATCGACTTGCTGCCGCCACCGCCGAAAAACTCCCGGGGCACAGAGCTCCGCCCCCACCGGGCCAGGCCCCACCTCCTCTGCAGTCGGTATTGTCCGATGGTTCCCGGCGTACCTCGGCTTCCCTCGGTAGTTTCCGGCAATGGTCGAGAGTTTCTAACGTGCCCCCTTGTTGTCTCTCGGCCGCCGTCCTCTCAACCACCGCCCCCCTTTTCGGCTCCCTCTCCCCCTTCCCGTTCCCCCAGTCAGCCTGGCCCTGCTGGTGCCTCCGGCGCTACGGGCTGGGCAAGATGGCGGCCTTCGGGATCTTGAGCTACGAACACCGGCCCCTGAAGCGGCCGCGGCTGGGGCCTCCCGATGTTTACCCTCAGGACCCCAAACAGAAGGAGGTGCGTTCGAAAATCGGGGCTCTGGAGGGGCCGGGGGCACGCGGTCAGCCTAGGAGGAGGCACTGACGGCTGGGAATGGGGGGCGGGGCGGTTCGGTGAGAGCAAAAGTCCCGAAAGGGGGAAGAGTAAAGTGGGCTGGCGTGGGAGGGCAGGACGGGGGGCGGTGGGGGGTTCCAAGGTATGAATAGGGGGTGGTGTAGGGGCCGCACCAGAGGCGCCCTCCTCCACACACACCTCAGAAAGTTGTCTGAGACAGCTTGGTGGGGTACGGCTGCTCGGCTGTTCGCAAGAGAAGAGTGATGTTTGAGGGCGCGCTGGGTGGCTGGGAATCCTAGTGACCATGGGAGTGAGGGTGGGGTCCAAGTGAACGTAAGGGCCCAGCTTTAAGTAACGATCTGTTCTACACGGAACCCTCCTCCTGCCCTTTCACCTTGTTCCTTCTTTTCTCCTGCCCTACTCTCCCACCCCTTCCCCCTTCCCCTAAGGAAAAAACAACTAAACGCCGCTTTCCTGCCTCAGGATGAACTGACGGCCTTGAATGTAAAACAAGGTTTCAATAACCAGCCTGCTGTCTCTGGGGATGAGCATGGCAGTGCCAAGAACGTCAGCTTCAATCCTGCCAAGGTGAGACAACTCTGCCAGGCTGAAGGAAAAGGCTGGAAGAATCTAAGAAGGAGCAAAGGCCCTGGGTTGGGAAGACTTATAGGGACAACCTAAGTGGCTGAGTTTGCCTTCATGACCTAATACTATCTCATTGGCATTTGCCCAGCAAAAGGCAGGACCACCTGTCTGCCCCTTCTTCCCACCCTGAGGTACACTTTTCTTCCCTCAGATCAGTTCCAACTTCAGCAGCATTATTGCAGAGAAATTACGTTGTAATACCCTTCCTGACACTGGTCGCAGGAAGCCCCAAGTGAACCAGAAGGATAACTTCTGGCTGGTGACTGCACGATCCCAGAGTGCCATTAACACTTGGTTCACTGACTTGGCTGGCACCAAGCCACTCACGCAACTAGCCAAAAAGGTAAGGTACTGTTTCCTGTCCTTCAGGCCAAGGAGGGAGCATGGGGTACCAAGTACCCTCCTATTCCCATATTAAGCTACATGGGTGTCAGCTCATGGGGATAATAGAGACCTCACTATTTGCAATGTCCATCCAGGTCCCCATTTTCAGTAAGAAGGAAGAGGTGTTTGGGTACTTAGCCAAATACACAGTGCCTGTGATGCGGGCTGCCTGGCTCATTAAGATGACCTGTGCCTACTATGCAGCAATCTCTGAGACCAAGGTTAAGAAGAGACATGTTGACCCTTTCATGGGTGAGTAACTCCTAACACCAGGTGTACTGCTGATGGCTTCAAGGAGTGATAGAGACACCCTTGGAACCATCCTCCTTCTTAATCTAGATTCCTTGTTTCTGCTTGTTTCTTGCATTTGTTTGATCAGTAAACACTGAGAAATTTGAGTGTCTACTGTGCGCATATACTGGGCTACAAAGATGTCCGGTGCATAATCTCTGCCCCTAGGATACTAGTAGTCTAACAGGGCTGCTAAGGTATATGTACAAATAACATAATTAAATATAGAAAGTGGTGAATGTCAAGCTAGGAGCAGAAGGTTCTTTGAGTGGACAAAAGATTACTTTCTTATGGGGGTACCCGGAAAGGCTTTAGGAAGGTGGGATTTGACTAGAGACTAAAAGGATGAACTGAATTTACAAATATGGTGATTAGGGGTGGGGGTAAGGTATTCTAAGTAGAAGGATTTTTTTTTTTTTGAGACAGAGCAAGACTCTGTCACCCAGGCTAGAGTGCAGTGGCAGGATCTTGGCTTACTGCAACCTCCACCTCCCGGGTTAAAGTGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCACTGCGCCCGGCTAATTTTTGTATTTTTCTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGTAGAAGGATATTCTAAGCAGAAGGATAGTATCAAATAGCCCTTTTTCCCTCTTTCCTCCAGAATGGACTCAGATCATCACCAAGTACTTATGGGAGCAGTTACAGAAGATGGCTGAATACTACCGGCCAGGGCCTGCAGGAAGTGGGGGCTGTGGTTCCACGATAGGGCCCTTGCCCCATGATGTAGAGGTGGCAATCCGGCAGTGGGATTACACCGAGAAGCTGGCCATGTTCATGTTTCAGGTAGAGAGTAGGGCATGCTGTGTGGGGCATTGGGTTGAGCTTGAACTTGTACTCTGCCAGTAGAGAACAGAATCTGCCTGCCACCTTGCCCCAGTTGTGGTTCTCTTCATCTTTTCATTTACTTTATCTGCTTCATCTCTAATAGTCCCCTCTTCCCTCCCCTGGTACCCATAGGATGGAATGCTGGACAGACATGAGTTCCTGACCTGGGTGCTTGAGTGTTTTGAGAAGATCCGCCCTGGAGAGGATGAATTGCTTAAACTGCTGCTGCCTCTGCTTCTCCGAGTAAGGCTTGGAATTTTGGTACTGGTGGGGCAGGGGGAGTCTAAGAAGAATTTGAGGAAGAATAAAATGTTAGAGCAGGGTCCCCTGGAGAGAACT
|
TTGTTTATTGTTATTTGTTACTTTTGTTACAGCACACTGGCTGTCTTTTCTCTAAAAGGCAATACAAGGCCGGCACAGTGGCGCACGCCTGTAGTCCAGGCTACTGGGAGGCTGAGGCGGGAGGATCGCTGGAGTCCAGAAGGTTGATGCTGCAGTGAGCCGTGATAGCGCCACTGCACTCCAGCCTAGGCGACAGAGGGAGAACCTGCCTCAAAATAAACAAATAGCAATACGACAATAGGATATTGGCTCTGGAATTCAGAATCTTAGTGCCAGCTCTGTTACTCAGTAGCTGTATAATATTGGATAAGTGAATTTTCACACTTTGAAAACCAGCTTCCTCCATCCGCAAAATCGAGCCAATAATAATCCCTAACTCATGAGGCTGTGAGCAGATTAAAGGAGATAGTGTCTGAAAAGCATCTGACACAATAGGTGCCTCTTTAGCTAGACCAAGGGTTCTTAACCTGGAGTTCATGGACCCTTAGGGGATACATGGATGAACTTCAGGGGATCTAAGAATCTAAAGCAACATTTTGCATGTCAATATATGCATATTATTATTATTATTATTATTATTTCTGGGAAGAAGGTCCATAGCTTTCATCAGCACCTTTAAGGGTTTGTGAATCAAAAACGTTAGTATGCGGTACCCTTGGGCAGAAAAACAAACAAGAAAAGGTTAGACAACTCGATGGTAGACCTTGAGGGATTAGAGCCAGCCTTTCAGGGTTTAATAGGTTCTTTCTCATGCATACATAGTTTCTAATGTTCACAATAGCCCCTTGAAGGAGGTGTTAGCGCACCTATTTTTCAGATGCCGGAACTAAGAAACGAACTGATCTGTAATAGACGGAGTTCCTAACCAATGCAAATATTATTGAAGACTTTTCTAGGCCAAAACCGAGCTAGGCTATGGGAACCGAAGTCCAGTCAGAACTCAGCACCACAGAGGCCTCCTTCTTCCCTGGTTTGCATCCCCAGCTCATTCTGCGCCTCCGGAACGTTTCATAGATTTTTGCTGAGTGAAATCGACTTGCTGCCGCCACCGCCGAAAAACTCCCGGGGCACAGAGCTCCGCCCCCACCGGGCCAGGCCCCACCTCCTCTGCAGTCGGTATTGTCCGATGGTTCCCGGCGTACCTCGGCTTCCCTCGGTAGTTTCCGGCAATGGTCGAGAGTTTCTAACGTGCCCCCTTGTTGTCTCTCGGCCGCCGTCCTCTCAACCACCGCCCCCCTTTTCGGCTCCCTCTCCCCCTTCCCGTTCCCCCAGTCAGCCTGGCCCTGCTGGTGCCTCCGGCGCTACGGGCTGGGCAAGATGGCGGCCTTCGGGATCTTGAGCTACGAACACCGGCCCCTGAAGCGGCCGCGGCTGGGGCCTCCCGATGTTTACCCTCAGGACCCCAAACAGAAGGAGGTGCGTTCGAAAATCGGGGCTCTGGAGGGGCCGGGGGCACGCGGTCAGCCTAGGAGGAGGCACTGACGGCTGGGAATGGGGGGCGGGGCGGTTCGGTGAGAGCAAAAGTCCCGAAAGGGGGAAGAGTAAAGTGGGCTGGCGTGGGAGGGCAGGACGGGGGGCGGTGGGGGGTTCCAAGGTATGAATAGGGGGTGGTGTAGGGGCCGCACCAGAGGCGCCCTCCTCCACACACACCTCAGAAAGTTGTCTGAGACAGCTTGGTGGGGTACGGCTGCTCGGCTGTTCGCAAGAGAAGAGTGATGTTTGAGGGCGCGCTGGGTGGCTGGGAATCCTAGTGACCATGGGAGTGAGGGTGGGGTCCAAGTGAACGTAAGGGCCCAGCTTTAAGTAACGATCTGTTCTACACGGAACCCTCCTCCTGCCCTTTCACCTTGTTCCTTCTTTTCTCCTGCCCTACTCTCCCACCCCTTCCCCCTTCCCCTAAGGAAAAAACAACTAAACGCCGCTTTCCTGCCTCAGGATGAACTGACGGCCTTGAATGTAAAACAAGGTTTCAATAACCAGCCTGCTGTCTCTGGGGATGAGCATGGCAGTGCCAAGAACGTCAGCTTCAATCCTGCCAAGGTGAGACAACTGCCAGGCTGAAGGAAAAGGCTGGAAGAATCTAAGAAGGAGCAAAGGCCCTGGGTTGGGAAGACTTATAGGGACAACCTAAGTGGCTGAGTTTGCCTTCATGACCTAATACTATCTCATTGGCATTTGCCCAGCAAAAGGCAGGACCACCTGTCTGCCCCTTCTTCCCACCCTGAGGTACACTTTTCTTCCCTCAGATCAGTTCCAACTTCAGCAGCATTATTGCAGAGAAATTACGTTGTAATACCCTTCCTGACACTGGTCGCAGGAAGCCCCAAGTGAACCAGAAGGATAACTTCTGGCTGGTGACTGCACGATCCCAGAGTGCCATTAACACTTGGTTCACTGACTTGGCTGGCACCAAGCCACTCACGCAACTAGCCAAAAAGGTAAGGTACTGTTTCCTGTCCTTCAGGCCAAGGAGGGAGCATGGGGTACCAAGTACCCTCCTATTCCCATATTAAGCTACATGGGTGTCAGCTCATGGGGATAATAGAGACCTCACTATTTGCAATGTCCATCCAGGTCCCCATTTTCAGTAAGAAGGAAGAGGTGTTTGGGTACTTAGCCAAATACACAGTGCCTGTGATGCGGGCTGCCTGGCTCATTAAGATGACCTGTGCCTACTATGCAGCAATCTCTGAGACCAAGGTTAAGAAGAGACATGTTGACCCTTTCATGGGTGAGTAACTCCTAACACCAGGTGTACTGCTGATGGCTTCAAGGAGTGATAGAGACACCCTTGGAACCATCCTCCTTCTTAATCTAGATTCCTTGTTTCTGCTTGTTTCTTGCATTTGTTTGATCAGTAAACACTGAGAAATTTGAGTGTCTACTGTGCGCATATACTGGGCTACAAAGATGTCCGGTGCATAATCTCTGCCCCTAGGATACTAGTAGTCTAACAGGGCTGCTAAGGTATATGTACAAATAACATAATTAAATATAGAAAGTGGTGAATGTCAAGCTAGGAGCAGAAGGTTCTTTGAGTGGACAAAAGATTACTTTCTTATGGGGGTACCCGGAAAGGCTTTAGGAAGGTGGGATTTGACTAGAGACTAAAAGGATGAACTGAATTTACAAATATGGTGATTAGGGGTGGGGGTAAGGTATTCTAAGTAGAAGGATTTTTTTTTTTTTGAGACAGAGCAAGACTCTGTCACCCAGGCTAGAGTGCAGTGGCAGGATCTTGGCTTACTGCAACCTCCACCTCCCGGGTTAAAGTGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCACTGCGCCCGGCTAATTTTTGTATTTTTCTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGTAGAAGGATATTCTAAGCAGAAGGATAGTATCAAATAGCCCTTTTTCCCTCTTTCCTCCAGAATGGACTCAGATCATCACCAAGTACTTATGGGAGCAGTTACAGAAGATGGCTGAATACTACCGGCCAGGGCCTGCAGGAAGTGGGGGCTGTGGTTCCACGATAGGGCCCTTGCCCCATGATGTAGAGGTGGCAATCCGGCAGTGGGATTACACCGAGAAGCTGGCCATGTTCATGTTTCAGGTAGAGAGTAGGGCATGCTGTGTGGGGCATTGGGTTGAGCTTGAACTTGTACTCTGCCAGTAGAGAACAGAATCTGCCTGCCACCTTGCCCCAGTTGTGGTTCTCTTCATCTTTTCATTTACTTTATCTGCTTCATCTCTAATAGTCCCCTCTTCCCTCCCCTGGTACCCATAGGATGGAATGCTGGACAGACATGAGTTCCTGACCTGGGTGCTTGAGTGTTTTGAGAAGATCCGCCCTGGAGAGGATGAATTGCTTAAACTGCTGCTGCCTCTGCTTCTCCGAGTAAGGCTTGGAATTTTGGTACTGGTGGGGCAGGGGGAGTCTAAGAAGAATTTGAGGAAGAATAAAATGTTAGAGCAGGGTCCCCTGGAGAGAACTNN
|
benign
| 335,614 |
Evaluate this variant at chromosome X, position 71123573, gene MED12: benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
benign
|
GAGAGAACTAGGGGCTCTGATGGTCGTGTCTTCACAGTACTCTGGGGAATTTGTTCAGTCTGCATACCTGTCCCGCCGGCTTGCCTACTTCTGTACACGGAGACTGGCCCTGCAGCTGGATGGTGTGAGCAGTCACTCATCTCATGTTATATCTGCTCAGTCAACAAGCACGCTACCCACCACCCCTGCTCCTCAGCCCCCAACTAGCAGCACACCCTCGACTCCCTTTAGTGACCTGCTTATGTGCCCTCAGCACCGGCCCCTGGTTTTTGGCCTCAGCTGTATCCTACAGGTAGGTACTAGGCGGGCCCAAGGAAGCATTGAGAGATAGCCTGAGAAGAATCAGGTGCCCATCCCAGAGAATAGGGGTAATTCCAAATTGGATGTGGGAGTAGGTGCTGAGTACTTGCTTGGAGGTTGTTGTTTCTTGGTAATGGGGTGTTAGTCCCCTTTGGGGGTTTTCACCAGCCTCTCTCTCCCTTCCAAGGCTAAATAGTGGGCCCAAAGCCTTTTAGGAAAGTGAGTGAAGGGAGGGGATCGGGGTGGAGTGATGCCTGTCTTGGGGACCCAGTCAGAATAACTTTGGATCTGGAATCTACGGGTTGGGTCTTAGAATGGGATTCCAGAGGGGTAACCATGGTGAATGAGTTGGACTTAGCTGTTTCTATCTGGTAGACCATCCTCCTGTGCTGTCCTAGTGCCTTGGTTTGGCACTACTCACTGACTGATAGCAGAATTAAGACCGGCTCACCACTTGACCACTTGCCTATTGCCCCGTCCAACCTGCCCATGCCAGAGGGTAACAGTGCCTTCACTCAGCAGGTATGTCTGACCACTAGCCTGGTACTCTCAGATTGGGCTATGAGGCTAAATTACTCTTTCAGAAGTAGTGATTTGGAGTCTAGTACTATTCTTCTAGCCTGGGGCTCTGGCCTTTTATATGCCTTGGTACATCCTTGTAGCCTTCCTTTTTAACATTGCAGGTCCGTGCAAAGTTGCGGGAGATCGAGCAGCAGATCAAGGAGCGGGGACAGGCAGTTGAAGTTCGCTGGTCTTTCGATAAATGCCAGGAAGCTACTGCAGGTATGTGTCAGAGAACAGATAATAGGAAATATGTTTGAGGAAAGGATGGGGATAGTAAGGACATGTAGATCTAAGAGCCAGAATGCACCGGGCCTCTGGTTCAGTCCCCTTTACCACTTTTCCTCCTTAGGCTTCACCATTGGACGGGTACTTCATACTTTGGAAGTGCTGGACAGCCATAGTTTTGAACGCTCTGACTTCAGCAACTCTCTTGACTCCCTTTGTAACCGAATCTTTGGATTGGGACCTAGCAAGGATGGGCATGAGGTAAGCGAAAAGGGGAATAGAAGGAGCAAAAAACATTGCAAGAGCAATAATATGTCTGAGAGGGAAGTCATGGTGAGGCATTGAAAGCAGAGCATATCTGCAGAAATGATCTTACTGGGCCCAGGATGTTTTATGATAGAGCCCAGTCTTTAGGAAATTGGAACTCATTTCTTTGTCCCCACCCCTACCTTACTCCTCCTTCTCTTCCTTTGTTCTCCAGATCTCCTCAGATGATGATGCTGTGGTGTCATTGCTATGTGAATGGGCTGTCAGCTGCAAGCGTTCTGGTCGGCATCGTGCTATGGTGGTAGCCAAGCTCCTGGAGAAGAGACAGGCGGAGATTGAGGCTGAGGTTAGAGGGCAGAGATAAGAGAACAAGATTGGCCAATGGGAAGGAATTTACTGCGGTTGGAGACCGAGAGATGGAGGTGGTGGAGGGACCAGAGTTGAAGGTGTGAGAACAGAGTAAAGAAGCAAAAGAGAACCTAAAGGCAAAGTTACGGACGTGAGGCGAAAGTAGAGAAGAGTGGATTGTAGTAAGAGTTAGAGATAACATCAAGGCTTCAGTTGGGAGGTGGTAAAGAACATGGAGGTCAGCAGGGGAATGAAAGTGAAAAGCATGGGGTAGAGGTCAAGCAGGTGGTAGTTTAAGGCCTACACATTGAGGAGTGAAGAAGCAGGTAAAAGTCAGTTCTACAATTTGTTCTGTCATCTTGCAGCGTTGTGGAGAATCAGAAGCCGCAGATGAGAAGGGTTCCATCGCCTCTGGCTCCCTTTCTGCTCCCAGTGCTCCCATTTTCCAGGATGTCCTCCTGCAGTTTCTGGATACACAGGCTCCCATGCTGAGTACGGACCCCTACCACTCTCTAGTTACCTCTGCCTAGACTCAGTTACCCACCACTGTCATCAGAAAGCATAATTAACAGCCCTCTGGTCTATATTTCTCTCTTGGGCTCTATGCAGAATGACTTTTAGATGTAGTTCTAGTGATCCTCTTTAACTGGTCATCTTACAGTTAAACAGAGTAGAGAAATACAGAGAAGGATAAAAACAAGAGCTTGTGATTGAAGCATTTTCACTGCATAAATCGCAACAAAGATGTTACATTCCTTTCTGAGATGATGTGTGGGACAGCATGTGGGGTAACCAACCACACTTTGTCCCTCAACAATTTCTGGGATTTCTATTTGATCACTCTTATTATTGCCTTAGGTGTGTCCCTCTCTCTTTTGGCCCACCTTTTTGTGTTCTCCTAACTTATGTTTCCTCATTCCCTTCCTCCAGCGGACCCTCGAAGTGAGAGTGAGCGGGTGGAATTCTTTAACTTAGTACTGCTGTTCTGTGAACTGATTCGACATGATGTTTTCTCCCACAACATGTATACTTGCACTCTCATCTCCCGAGGGGACCTTGCCTTTGGAGCCCCTGGTCCCCGGCCTCCCTCTCCCTTTGATGATCCTGCCGATGACCCAGAGCACAAGGAGGCTGAAGGCAGCAGCAGCAGCAAGCTGGAAGTGAGTGGGCTTTTCCTTGCACTAGATCGTTTCTTCTGACATTTCCATCTTCATGGCTCCCAGGGGCCTCTAAGAGCCTCTTTTGCCTGGGGGAGGGGGGTAGTATTTTTCTTAGCACTTGGTGATTGACCAAGCACTCTCACATCAATTGTTTCATTGGTTCCTCCCATCAGCCTTGTGAGGTACTCTTATCCCCATTTTCAAACTGAAGAAAACAGAGGCCTATACTGGTTAAGTGATTGGATGAGGCTTGACTCCAGATCCTGTGCTTTCCCCAATCTGGTCTTCTCTCTCCACTTCCCCAATGAAGTTTTACAGATGGTGGGAGCCACTCCCTAGGGCTAAAGCAACTTCGCTTATGTTCTATGCCCTCAGGATCCAGGGCTCTCAGAATCTATGGACATTGACCCTAGTTCCAGTGTTCTCTTTGAGGACATGGAGAAGCCTGATTTCTCAGTAAGTTCAATCCTGAGCGTGGCAGAATCTGGATCCTTGGATCTTCCCATTATGCCTGCTTTTGGCATGTTTTTTTGCCCCCTCATCCACTTTCCTTCTTCTCATGTTCTGCTTTCTCACCTTTCTCTCAGTTGTTCTCCCCTACTATGCCCTGTGAGGGGAAGGGCAGTCCATCCCCTGAGAAGCCAGATGTCGAGAAGGAGGTGAAGCCCCCACCCAAGGAGAAGATTGAAGGGACCCTTGGGGTTCTTTACGACCAGCCACGACACGTGCAGTACGCCACCCATTTTCCCATCCCCCAGGTACTATTCCCCAGCACCTTGTGATGATCTGTTTTGAACCCAGATTGCTGTCAAAGGAATTTGCTGAGGGGTTGGAGCTGTTCTGAGGATGTGGGTTGGGAAAGGGAAGGGCTTTAGCATGTGGATGCTGAGGGGTGTGGAGCATGCTTTCAAGAGGAGGGAAGGAGATCGGTGCTGGAGTCTGATGGTGCTGCTGGGATGCAGGAGGAGTCATGCAGCCATGAGTGCAACCAGCGGTTGGTCGTACTGTTTGGGGTGGGAAAGCAGCGAGATGATGCCCGCCATGCCATCAAGAAAATCACCAAGGATATCTTGAAGGTTCTGAACCGCAAAGGGACAGCAGAAACTGGTGGGTTTGAGGCTCCTTAAACAGATCTCCCCCAAAGAATGCCCTAGTCAGTCTTCCCTTCCCCAGTATAGGGAACTCCCCAGTCATGTCCCAATGTCCTGTCTCTTGGAGTCTCCTGAGAGCTC
|
GAGAGAACTAGGGGCTCTGATGGTCGTGTCTTCACAGTACTCTGGGGAATTTGTTCAGTCTGCATACCTGTCCCGCCGGCTTGCCTACTTCTGTACACGGAGACTGGCCCTGCAGCTGGATGGTGTGAGCAGTCACTCATCTCATGTTATATCTGCTCAGTCAACAAGCACGCTACCCACCACCCCTGCTCCTCAGCCCCCAACTAGCAGCACACCCTCGACTCCCTTTAGTGACCTGCTTATGTGCCCTCAGCACCGGCCCCTGGTTTTTGGCCTCAGCTGTATCCTACAGGTAGGTACTAGGCGGGCCCAAGGAAGCATTGAGAGATAGCCTGAGAAGAATCAGGTGCCCATCCCAGAGAATAGGGGTAATTCCAAATTGGATGTGGGAGTAGGTGCTGAGTACTTGCTTGGAGGTTGTTGTTTCTTGGTAATGGGGTGTTAGTCCCCTTTGGGGGTTTTCACCAGCCTCTCTCTCCCTTCCAAGGCTAAATAGTGGGCCCAAAGCCTTTTAGGAAAGTGAGTGAAGGGAGGGGATCGGGGTGGAGTGATGCCTGTCTTGGGGACCCAGTCAGAATAACTTTGGATCTGGAATCTACGGGTTGGGTCTTAGAATGGGATTCCAGAGGGGTAACCATGGTGAATGAGTTGGACTTAGCTGTTTCTATCTGGTAGACCATCCTCCTGTGCTGTCCTAGTGCCTTGGTTTGGCACTACTCACTGACTGATAGCAGAATTAAGACCGGCTCACCACTTGACCACTTGCCTATTGCCCCGTCCAACCTGCCCATGCCAGAGGGTAACAGTGCCTTCACTCAGCAGGTATGTCTGACCACTAGCCTGGTACTCTCAGATTGGGCTATGAGGCTAAATTACTCTTTCAGAAGTAGTGATTTGGAGTCTAGTACTATTCTTCTAGCCTGGGGCTCTGGCCTTTTATATGCCTTGGTACATCCTTGTAGCCTTCCTTTTTAACATTGCAGGTCCGTGCAAAGTTGCGGGAGATCGAGCAGCAGATCAAGGAGCGGGGACAGGCAGTTGAAGTTCGCTGGTCTTTCGATAAATGCCAGGAAGCTACTGCAGGTATGTGTCAGAGAACAGATAATAGGAAATATGTTTGAGGAAAGGATGGGGATAGTAAGGACATGTAGATCTAAGAGCCAGAATGCACCGGGCCTCTGGTTCAGTCCCCTTTACCACTTTTCCTCCTTAGGCTTCACCATTGGACGGGTACTTCATACTTTGGAAGTGCTGGACAGCCATAGTTTTGAACGCTCTGACTTCAGCAACTCTCTTGACTCCCTTTGTAACCGAATCTTTGGATTGGGACCTAGCAAGGATGGGCATGAGGTAAGCGAAAAGGGGAATAGAAGGAGCAAAAAACATTGCAAGAGCAATAATATGTCTGAGAGGGAAGTCATGGTGAGGCATTGAAAGCAGAGCATATCTGCAGAAATGATCTTACTGGGCCCAGGATGTTTTATGATAGAGCCCAGTCTTTAGGAAATTGGAACTCATTTCTTTGTCCCCACCCCTACCTTACTCCTCCTTCTCTTCCTTTGTTCTCCAGATCTCCTCAGATGATGATGCTGTGGTGTCATTGCTATGTGAATGGGCTGTCAGCTGCAAGCGTTCTGGTCGGCATCGTGCTATGGTGGTAGCCAAGCTCCTGGAGAAGAGACAGGCGGAGATTGAGGCTGAGGTTAGAGGGCAGAGATAAGAGAACAAGATTGGCCAATGGGAAGGAATTTACTGCGGTTGGAGACCGAGAGATGGAGGTGGTGGAGGGACCAGAGTTGAAGGTGTGAGAACAGAGTAAAGAAGCAAAAGAGAACCTAAAGGCAAAGTTACGGACGTGAGGCGAAAGTAGAGAAGAGTGGATTGTAGTAAGAGTTAGAGATAACATCAAGGCTTCAGTTGGGAGGTGGTAAAGAACATGGAGGTCAGCAGGGGAATGAAAGTGAAAAGCATGGGGTAGAGGTCAAGCAGGTGGTAGTTTAAGGCCTACACATTGAGGAGTGAAGAAGCAGGTAAAAGTCAGTTCTACAATTCTGTCATCTTGCAGCGTTGTGGAGAATCAGAAGCCGCAGATGAGAAGGGTTCCATCGCCTCTGGCTCCCTTTCTGCTCCCAGTGCTCCCATTTTCCAGGATGTCCTCCTGCAGTTTCTGGATACACAGGCTCCCATGCTGAGTACGGACCCCTACCACTCTCTAGTTACCTCTGCCTAGACTCAGTTACCCACCACTGTCATCAGAAAGCATAATTAACAGCCCTCTGGTCTATATTTCTCTCTTGGGCTCTATGCAGAATGACTTTTAGATGTAGTTCTAGTGATCCTCTTTAACTGGTCATCTTACAGTTAAACAGAGTAGAGAAATACAGAGAAGGATAAAAACAAGAGCTTGTGATTGAAGCATTTTCACTGCATAAATCGCAACAAAGATGTTACATTCCTTTCTGAGATGATGTGTGGGACAGCATGTGGGGTAACCAACCACACTTTGTCCCTCAACAATTTCTGGGATTTCTATTTGATCACTCTTATTATTGCCTTAGGTGTGTCCCTCTCTCTTTTGGCCCACCTTTTTGTGTTCTCCTAACTTATGTTTCCTCATTCCCTTCCTCCAGCGGACCCTCGAAGTGAGAGTGAGCGGGTGGAATTCTTTAACTTAGTACTGCTGTTCTGTGAACTGATTCGACATGATGTTTTCTCCCACAACATGTATACTTGCACTCTCATCTCCCGAGGGGACCTTGCCTTTGGAGCCCCTGGTCCCCGGCCTCCCTCTCCCTTTGATGATCCTGCCGATGACCCAGAGCACAAGGAGGCTGAAGGCAGCAGCAGCAGCAAGCTGGAAGTGAGTGGGCTTTTCCTTGCACTAGATCGTTTCTTCTGACATTTCCATCTTCATGGCTCCCAGGGGCCTCTAAGAGCCTCTTTTGCCTGGGGGAGGGGGGTAGTATTTTTCTTAGCACTTGGTGATTGACCAAGCACTCTCACATCAATTGTTTCATTGGTTCCTCCCATCAGCCTTGTGAGGTACTCTTATCCCCATTTTCAAACTGAAGAAAACAGAGGCCTATACTGGTTAAGTGATTGGATGAGGCTTGACTCCAGATCCTGTGCTTTCCCCAATCTGGTCTTCTCTCTCCACTTCCCCAATGAAGTTTTACAGATGGTGGGAGCCACTCCCTAGGGCTAAAGCAACTTCGCTTATGTTCTATGCCCTCAGGATCCAGGGCTCTCAGAATCTATGGACATTGACCCTAGTTCCAGTGTTCTCTTTGAGGACATGGAGAAGCCTGATTTCTCAGTAAGTTCAATCCTGAGCGTGGCAGAATCTGGATCCTTGGATCTTCCCATTATGCCTGCTTTTGGCATGTTTTTTTGCCCCCTCATCCACTTTCCTTCTTCTCATGTTCTGCTTTCTCACCTTTCTCTCAGTTGTTCTCCCCTACTATGCCCTGTGAGGGGAAGGGCAGTCCATCCCCTGAGAAGCCAGATGTCGAGAAGGAGGTGAAGCCCCCACCCAAGGAGAAGATTGAAGGGACCCTTGGGGTTCTTTACGACCAGCCACGACACGTGCAGTACGCCACCCATTTTCCCATCCCCCAGGTACTATTCCCCAGCACCTTGTGATGATCTGTTTTGAACCCAGATTGCTGTCAAAGGAATTTGCTGAGGGGTTGGAGCTGTTCTGAGGATGTGGGTTGGGAAAGGGAAGGGCTTTAGCATGTGGATGCTGAGGGGTGTGGAGCATGCTTTCAAGAGGAGGGAAGGAGATCGGTGCTGGAGTCTGATGGTGCTGCTGGGATGCAGGAGGAGTCATGCAGCCATGAGTGCAACCAGCGGTTGGTCGTACTGTTTGGGGTGGGAAAGCAGCGAGATGATGCCCGCCATGCCATCAAGAAAATCACCAAGGATATCTTGAAGGTTCTGAACCGCAAAGGGACAGCAGAAACTGGTGGGTTTGAGGCTCCTTAAACAGATCTCCCCCAAAGAATGCCCTAGTCAGTCTTCCCTTCCCCAGTATAGGGAACTCCCCAGTCATGTCCCAATGTCCTGTCTCTTGGAGTCTCCTGAGAGCTCNNNN
|
benign
| 335,674 |
The genetic variant at chromosome X, position 71128574, affecting gene MED12 (mediator complex subunit 12): benign or pathogenic? Disease name(s) if pathogenic?
|
benign
|
GCCATATAGCGGCTACGGAGGGTCATAAGGACAGGCGTAGAGGCTCCAGCCAGTTTCCCAAGCTATTTGAAGGGGCAGAAAGACTAGCATGGGGGGAGTGGAACATGAGCTAAGACTGCAGGAATAGAGACTTAAGTGCTCCCTGGGGAGGCCAAGAGGCAGATTAGAGCATTGGGCACAGACCATCCTCCCACTGTGGAGTTCATAGAACTGTATCCTGGACACTGGTTAGAGGTGTTGTTGATAGAATAAACTATCAACAATAAACTATCAATAGAGGTGTTGTTGATAGACTGTGGCATAGGGTAACGAGCCCTTCTATCCTGTGGTGGCTCCAGCAGGAAGGGGCTCAGGCCCAGCCTTGCCAGCGTCCCCACAGGAAGGTGGTTTCTATGTAACACAAGGGGCCTCTTTGCATTTCTCACCCCCGTTTACTCTGCTAGCTGCTGAATGAACTGAGTGTAGTTGAGGCTGAGCTGCTTCTCAAATCCTCGGATCTGGTGGGCAGCTACACTACTAGCCTGTGCCTGTGCATCGTGGCTGTCCTGCGGCACTATCATGCCTGCCTCATCCTCAACCAGGACCAGATGGCACAGGTCTTTGAGGGGTAAGCAGAGCTTCGGAATAACTGAAACAAAGCTCTGGCGAATGCCGGTGGAAGTGGCCTGGGAAGAGCATGCACTTCCTCACACTCTGGGGAAGCACCTGCTGCTCAGGTGGGAAAAGAATGGTATTTCCCAGAGGCTTGAATCTGTTTGGAGGAGCCCGCATACCATCTGCTGACCCTCCCAACCTTGCTTCTTCATGCAGGCTGTGTGGCGTCGTGAAGCATGGGATGAACCGGTCCGATGGCTCCTCTGCAGAGCGCTGTATCCTTGCTTATCTCTATGATCTGTACACCTCCTGTAGCCATTTAAAGAACAAATTTGGGGAGCTCTTCAGGTAAGAGAGGTGGAAGGTAAGGGGTAGCGAGTGGGACCTACTCCCTTCTTCCCATGACCACCCAACTCAGGAGGAGAGGATGGCCCGGGACCCTGCTGCCTGTCTAGGGTCATTTGTGGACTGTGTCCTCCACATACTGTTGTGTTACCAAGAGTGGGCCCTCTTCCTCAGCAGGCTTGCTCCCCGCCTATATCTGTGGGGCCCACCCTCTTCCCCCTTTTCCTCACTGCCTTCAGAGGCCCCAGTTCCTTATTCCCATGTGGTTCCTTTCCTGCCCAGTCTGTTTTGTCCCATCTCCCTTTTCTTGTCTCAAGATCCTTCATCCCTCACTTTCTCCTTTTTTTCTTTTCTCCCCTTTCCTGACCATCCCTCGACCTCAGCAGGCCTTCTTCAACACTACTATCTCCTTTCCTCCATCCCTGCAGCGACTTTTGCTCAAAGGTGAAGAACACCATCTACTGCAACGTGGAGCCATCGGAATCAAATATGCGCTGGGCACCTGAGTTCATGATCGACACTCTAGAGAACCCTGCAGCTCACACCTTCACCTACACGGGGCTAGGCAAGAGTCTTAGTGAGAACCCTGCTAACCGCTACAGCTTTGTCTGCAATGCCCTTATGCACGTCTGTGTGGGGCACCATGATCCCGATAGGTATGGGGTGTACTGAGTGAGGAAGGGCACCATGCCCCCATCTGAGATAGGGAGGGCTGAGGTACCCGGGAGGTACTACAACCTTGATTATTTAGTGGGGCAGAGATGAGAAGTTAATGGGTCTGAGGTTTTGTGGAGCAAGGTTTTTCCTGAGGGCATTTGTACTTTTCCCTAGGGTGAATGACATCGCAATCCTGTGTGCAGAGCTGACCGGCTATTGCAAGTCACTGAGTGCAGAATGGCTAGGAGTGCTTAAGGCCTTGTGCTGCTCCTCTAACAATGGCACTTGTGGTTTCAACGATCTCCTCTGCAATGTTGATGTGAGACTTGGGGTGGGGTTTTGCTAGTGGGGCAGTGACCAGGGCAGGGGGCTGGTTGTGATCCTCTGACCAGGGACAGAGTTCCGTAGAGTGGAGGCACACCGCTTTGAGTGGGCCTCCACACTGAGTCATGGTGTCTGTCTGTTTTTTCCTCCAGGTCAGTGACCTATCTTTTCATGACTCGCTGGCTACTTTTGTTGCCATCCTCATCGCTCGGCAGTGTTTGCTCCTGGAAGATCTGATTCGCTGTGCTGCCATCCCTTCACTCCTTAATGCTGGTGAACTACCAATCTGTAACCCCTAGCATTTCTAGACCTCAAATTTCAATACACACTGGACGGCCATCCTCTCATTGTTCACTGTGGGAGACCTTGCTGCGGCTCCCTGGCCTTCCTCAGAAGGCCAGTCCTTTGGTATGCTGAAGGCTAGAAGAAACCTGTTTTTTAGCCCTGGATTTGCAGCCCTGACCTTTCCAATTTCTGACCCTTCAACTGCGTAACAGTTCTCTGCTCTACCTCGCTTTCAATATTATCTTGCTTTTTCTCCTTTCACTTTACCTCATCTTCTCTCCCATGCCCCTGCCATACACTTGCATGCATGCAGGCACGCACACACATAAACCCACATACAGTTTAACTTCATCCCTTCCAGATCTGTTTTGTCTTCCTTTTAGCTTGTAGTGAACAGGACTCTGAGCCAGGGGCCCGGCTTACCTGCCGCATCCTCCTTCACCTTTTCAAGACACCGCAGCTCAATCCTTGCCAGTCTGATGGAAGTAAGTGACCCTGATCTGAACCAGCCAACAGTAGAAAGTGTGGTTCCCCTGCCTCCGTGGATTCTACTTTTGCTTCCCCTGACTTCATCGCCTTCCCCAGACAAGCCTACAGTAGGAATCCGCTCCTCCTGCGACCGCCACCTGCTGGCTGCCTCCCAGAACCGCATCGTGGATGGAGCCGTGTTTGCTGTTCTCAAGGCTGTGTTTGTACTTGGTACGGGGGTAGGAAGGGAGTGGTGCCAGAAGTGTGTATAGGGTGGAGTGCCAGCTAAACTACAAGGGACAGTCTTTCTCCCTTCTGAAGGTGGTCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCAGTCTGGATGTCTATGCCAAGTACGTGCTGCGCAGCATCTGCCAACAGGTCAGTTTCACCTTCCTCCCACACCTCCTAAATGCCTCTGTGTAATATAGTTCTGTTTCCAGCCCATGATCACACCAGCTCCCTACTATACATTGTGTTCCTTAACAACTCCAGCCCATCCCCCATATTCCTAACCCCCTCACTGGTTGTTCCCAGTCCCTGATTGTCAGCTTCCTCAGGAATGGGTAGGAGAACGTTGCCTTAAGTCTCTGTGTGAGGACAGCAATGACCTGCAAGACCCAGTGTTGAGTAGTGCCCAGGCGCAGCGCCTCATGCAGCTCATTTGCTATCCACATCGACTGCTGGACAATGAGGATGGGGAAAACCCCCAGCGGCAGCGCATAAAGCGCATTCTCCAGGTAGGCCAAGGCCGTGGGGGCTGTGGAGGAAGCAGTGGGCCCAATCTGGGGAGAAACAATAGGAACCTTGAGAAAAGGAGAGGGGCAGTTAAGTAGAGAGGAAGACAAACAAGGATATAGGGGAGGGGAGAGGTAGCGAGAGAAACAGCTCCAGCATGGGCTGAGGAGTAAGTCCAGTAGGGTCTAGACTCCAGTGTAAGAGTATTAGGTGAGGGCATAGCTATCTGGAGTGAATCTAGCTTATCAATGGGAAGCATAGCATCTGGGAGGCCTAGGTGTGGGCCGTGTATATTTGGCATTTTGGCCATGGCTCAGGAACTGAATAGTAATAGCTACTACTTGCTGAGCATGTGCTTTGTGCCAGGTACTGTGCTAGGCACTCTGCACACATTTCCTCATTTAATCTT
|
GCCATATAGCGGCTACGGAGGGTCATAAGGACAGGCGTAGAGGCTCCAGCCAGTTTCCCAAGCTATTTGAAGGGGCAGAAAGACTAGCATGGGGGGAGTGGAACATGAGCTAAGACTGCAGGAATAGAGACTTAAGTGCTCCCTGGGGAGGCCAAGAGGCAGATTAGAGCATTGGGCACAGACCATCCTCCCACTGTGGAGTTCATAGAACTGTATCCTGGACACTGGTTAGAGGTGTTGTTGATAGAATAAACTATCAACAATAAACTATCAATAGAGGTGTTGTTGATAGACTGTGGCATAGGGTAACGAGCCCTTCTATCCTGTGGTGGCTCCAGCAGGAAGGGGCTCAGGCCCAGCCTTGCCAGCGTCCCCACAGGAAGGTGGTTTCTATGTAACACAAGGGGCCTCTTTGCATTTCTCACCCCCGTTTACTCTGCTAGCTGCTGAATGAACTGAGTGTAGTTGAGGCTGAGCTGCTTCTCAAATCCTCGGATCTGGTGGGCAGCTACACTACTAGCCTGTGCCTGTGCATCGTGGCTGTCCTGCGGCACTATCATGCCTGCCTCATCCTCAACCAGGACCAGATGGCACAGGTCTTTGAGGGGTAAGCAGAGCTTCGGAATAACTGAAACAAAGCTCTGGCGAATGCCGGTGGAAGTGGCCTGGGAAGAGCATGCACTTCCTCACACTCTGGGGAAGCACCTGCTGCTCAGGTGGGAAAAGAATGGTATTTCCCAGAGGCTTGAATCTGTTTGGAGGAGCCCGCATACCATCTGCTGACCCTCCCAACCTTGCTTCTTCATGCAGGCTGTGTGGCGTCGTGAAGCATGGGATGAACCGGTCCGATGGCTCCTCTGCAGAGCGCTGTATCCTTGCTTATCTCTATGATCTGTACACCTCCTGTAGCCATTTAAAGAACAAATTTGGGGAGCTCTTCAGGTAAGAGAGGTGGAAGGTAAGGGGTAGCGAGTGGGACCTACTCCCTTCTTCCCATGACCACCCAACTCAGGAGGAGAGGATGGCCCGGGACCCTGCTGCCTGTCTAGGGTCATTTGTGGACTGTGTCCTCCACATACTGTTGTGTTACCAAGAGTGGGCCCTCTTCCTCAGCAGGCTTGCTCCCCGCCTATATCTGTGGGGCCCACCCTCTTCCCCCTTTTCCTCACTGCCTTCAGAGGCCCCAGTTCCTTATTCCCATGTGGTTCCTTTCCTGCCCAGTCTGTTTTGTCCCATCTCCCTTTTCTTGTCTCAAGATCCTTCATCCCTCACTTTCTCCTTTTTTTCTTTTCTCCCCTTTCCTGACCATCCCTCGACCTCAGCAGGCCTTCTTCAACACTACTATCTCCTTTCCTCCATCCCTGCAGCGACTTTTGCTCAAAGGTGAAGAACACCATCTACTGCAACGTGGAGCCATCGGAATCAAATATGCGCTGGGCACCTGAGTTCATGATCGACACTCTAGAGAACCCTGCAGCTCACACCTTCACCTACACGGGGCTAGGCAAGAGTCTTAGTGAGAACCCTGCTAACCGCTACAGCTTTGTCTGCAATGCCCTTATGCACGTCTGTGTGGGGCACCATGATCCCGATAGGTATGGGGTGTACTGAGTGAGGAAGGGCACCATGCCCCCATCTGAGATAGGGAGGGCTGAGGTACCCGGGAGGTACTACAACCTTGATTATTTAGTGGGGCAGAGATGAGAAGTTAATGGGTCTGAGGTTTTGTGGAGCAAGGTTTTTCCTGAGGGCATTTGTACTTTTCCCTAGGGTGAATGACATCGCAATCCTGTGTGCAGAGCTGACCGGCTATTGCAAGTCACTGAGTGCAGAATGGCTAGGAGTGCTTAAGGCCTTGTGCTGCTCCTCTAACAATGGCACTTGTGGTTTCAACGATCTCCTCTGCAATGTTGATGTGAGACTTGGGGTGGGGTTTTGCTAGTGGGGCAGTGACCAGGGCAGGGGGCTGGTTGTGATCCTCTGACCAGGGACAGAGTTCCGTAGAGTGGAGGCACACCGCTTTGAGTGGGCCTCCACACTGAGTCATGGTGTCTGTTTTTTCCTCCAGGTCAGTGACCTATCTTTTCATGACTCGCTGGCTACTTTTGTTGCCATCCTCATCGCTCGGCAGTGTTTGCTCCTGGAAGATCTGATTCGCTGTGCTGCCATCCCTTCACTCCTTAATGCTGGTGAACTACCAATCTGTAACCCCTAGCATTTCTAGACCTCAAATTTCAATACACACTGGACGGCCATCCTCTCATTGTTCACTGTGGGAGACCTTGCTGCGGCTCCCTGGCCTTCCTCAGAAGGCCAGTCCTTTGGTATGCTGAAGGCTAGAAGAAACCTGTTTTTTAGCCCTGGATTTGCAGCCCTGACCTTTCCAATTTCTGACCCTTCAACTGCGTAACAGTTCTCTGCTCTACCTCGCTTTCAATATTATCTTGCTTTTTCTCCTTTCACTTTACCTCATCTTCTCTCCCATGCCCCTGCCATACACTTGCATGCATGCAGGCACGCACACACATAAACCCACATACAGTTTAACTTCATCCCTTCCAGATCTGTTTTGTCTTCCTTTTAGCTTGTAGTGAACAGGACTCTGAGCCAGGGGCCCGGCTTACCTGCCGCATCCTCCTTCACCTTTTCAAGACACCGCAGCTCAATCCTTGCCAGTCTGATGGAAGTAAGTGACCCTGATCTGAACCAGCCAACAGTAGAAAGTGTGGTTCCCCTGCCTCCGTGGATTCTACTTTTGCTTCCCCTGACTTCATCGCCTTCCCCAGACAAGCCTACAGTAGGAATCCGCTCCTCCTGCGACCGCCACCTGCTGGCTGCCTCCCAGAACCGCATCGTGGATGGAGCCGTGTTTGCTGTTCTCAAGGCTGTGTTTGTACTTGGTACGGGGGTAGGAAGGGAGTGGTGCCAGAAGTGTGTATAGGGTGGAGTGCCAGCTAAACTACAAGGGACAGTCTTTCTCCCTTCTGAAGGTGGTCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCAGTCTGGATGTCTATGCCAAGTACGTGCTGCGCAGCATCTGCCAACAGGTCAGTTTCACCTTCCTCCCACACCTCCTAAATGCCTCTGTGTAATATAGTTCTGTTTCCAGCCCATGATCACACCAGCTCCCTACTATACATTGTGTTCCTTAACAACTCCAGCCCATCCCCCATATTCCTAACCCCCTCACTGGTTGTTCCCAGTCCCTGATTGTCAGCTTCCTCAGGAATGGGTAGGAGAACGTTGCCTTAAGTCTCTGTGTGAGGACAGCAATGACCTGCAAGACCCAGTGTTGAGTAGTGCCCAGGCGCAGCGCCTCATGCAGCTCATTTGCTATCCACATCGACTGCTGGACAATGAGGATGGGGAAAACCCCCAGCGGCAGCGCATAAAGCGCATTCTCCAGGTAGGCCAAGGCCGTGGGGGCTGTGGAGGAAGCAGTGGGCCCAATCTGGGGAGAAACAATAGGAACCTTGAGAAAAGGAGAGGGGCAGTTAAGTAGAGAGGAAGACAAACAAGGATATAGGGGAGGGGAGAGGTAGCGAGAGAAACAGCTCCAGCATGGGCTGAGGAGTAAGTCCAGTAGGGTCTAGACTCCAGTGTAAGAGTATTAGGTGAGGGCATAGCTATCTGGAGTGAATCTAGCTTATCAATGGGAAGCATAGCATCTGGGAGGCCTAGGTGTGGGCCGTGTATATTTGGCATTTTGGCCATGGCTCAGGAACTGAATAGTAATAGCTACTACTTGCTGAGCATGTGCTTTGTGCCAGGTACTGTGCTAGGCACTCTGCACACATTTCCTCATTTAATCTTNNNN
|
benign
| 335,748 |
Is the genetic mutation found on chromosome X at position 71128584, within the gene MED12 (mediator complex subunit 12), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
GGCTACGGAGGGTCATAAGGACAGGCGTAGAGGCTCCAGCCAGTTTCCCAAGCTATTTGAAGGGGCAGAAAGACTAGCATGGGGGGAGTGGAACATGAGCTAAGACTGCAGGAATAGAGACTTAAGTGCTCCCTGGGGAGGCCAAGAGGCAGATTAGAGCATTGGGCACAGACCATCCTCCCACTGTGGAGTTCATAGAACTGTATCCTGGACACTGGTTAGAGGTGTTGTTGATAGAATAAACTATCAACAATAAACTATCAATAGAGGTGTTGTTGATAGACTGTGGCATAGGGTAACGAGCCCTTCTATCCTGTGGTGGCTCCAGCAGGAAGGGGCTCAGGCCCAGCCTTGCCAGCGTCCCCACAGGAAGGTGGTTTCTATGTAACACAAGGGGCCTCTTTGCATTTCTCACCCCCGTTTACTCTGCTAGCTGCTGAATGAACTGAGTGTAGTTGAGGCTGAGCTGCTTCTCAAATCCTCGGATCTGGTGGGCAGCTACACTACTAGCCTGTGCCTGTGCATCGTGGCTGTCCTGCGGCACTATCATGCCTGCCTCATCCTCAACCAGGACCAGATGGCACAGGTCTTTGAGGGGTAAGCAGAGCTTCGGAATAACTGAAACAAAGCTCTGGCGAATGCCGGTGGAAGTGGCCTGGGAAGAGCATGCACTTCCTCACACTCTGGGGAAGCACCTGCTGCTCAGGTGGGAAAAGAATGGTATTTCCCAGAGGCTTGAATCTGTTTGGAGGAGCCCGCATACCATCTGCTGACCCTCCCAACCTTGCTTCTTCATGCAGGCTGTGTGGCGTCGTGAAGCATGGGATGAACCGGTCCGATGGCTCCTCTGCAGAGCGCTGTATCCTTGCTTATCTCTATGATCTGTACACCTCCTGTAGCCATTTAAAGAACAAATTTGGGGAGCTCTTCAGGTAAGAGAGGTGGAAGGTAAGGGGTAGCGAGTGGGACCTACTCCCTTCTTCCCATGACCACCCAACTCAGGAGGAGAGGATGGCCCGGGACCCTGCTGCCTGTCTAGGGTCATTTGTGGACTGTGTCCTCCACATACTGTTGTGTTACCAAGAGTGGGCCCTCTTCCTCAGCAGGCTTGCTCCCCGCCTATATCTGTGGGGCCCACCCTCTTCCCCCTTTTCCTCACTGCCTTCAGAGGCCCCAGTTCCTTATTCCCATGTGGTTCCTTTCCTGCCCAGTCTGTTTTGTCCCATCTCCCTTTTCTTGTCTCAAGATCCTTCATCCCTCACTTTCTCCTTTTTTTCTTTTCTCCCCTTTCCTGACCATCCCTCGACCTCAGCAGGCCTTCTTCAACACTACTATCTCCTTTCCTCCATCCCTGCAGCGACTTTTGCTCAAAGGTGAAGAACACCATCTACTGCAACGTGGAGCCATCGGAATCAAATATGCGCTGGGCACCTGAGTTCATGATCGACACTCTAGAGAACCCTGCAGCTCACACCTTCACCTACACGGGGCTAGGCAAGAGTCTTAGTGAGAACCCTGCTAACCGCTACAGCTTTGTCTGCAATGCCCTTATGCACGTCTGTGTGGGGCACCATGATCCCGATAGGTATGGGGTGTACTGAGTGAGGAAGGGCACCATGCCCCCATCTGAGATAGGGAGGGCTGAGGTACCCGGGAGGTACTACAACCTTGATTATTTAGTGGGGCAGAGATGAGAAGTTAATGGGTCTGAGGTTTTGTGGAGCAAGGTTTTTCCTGAGGGCATTTGTACTTTTCCCTAGGGTGAATGACATCGCAATCCTGTGTGCAGAGCTGACCGGCTATTGCAAGTCACTGAGTGCAGAATGGCTAGGAGTGCTTAAGGCCTTGTGCTGCTCCTCTAACAATGGCACTTGTGGTTTCAACGATCTCCTCTGCAATGTTGATGTGAGACTTGGGGTGGGGTTTTGCTAGTGGGGCAGTGACCAGGGCAGGGGGCTGGTTGTGATCCTCTGACCAGGGACAGAGTTCCGTAGAGTGGAGGCACACCGCTTTGAGTGGGCCTCCACACTGAGTCATGGTGTCTGTCTGTTTTTTCCTCCAGGTCAGTGACCTATCTTTTCATGACTCGCTGGCTACTTTTGTTGCCATCCTCATCGCTCGGCAGTGTTTGCTCCTGGAAGATCTGATTCGCTGTGCTGCCATCCCTTCACTCCTTAATGCTGGTGAACTACCAATCTGTAACCCCTAGCATTTCTAGACCTCAAATTTCAATACACACTGGACGGCCATCCTCTCATTGTTCACTGTGGGAGACCTTGCTGCGGCTCCCTGGCCTTCCTCAGAAGGCCAGTCCTTTGGTATGCTGAAGGCTAGAAGAAACCTGTTTTTTAGCCCTGGATTTGCAGCCCTGACCTTTCCAATTTCTGACCCTTCAACTGCGTAACAGTTCTCTGCTCTACCTCGCTTTCAATATTATCTTGCTTTTTCTCCTTTCACTTTACCTCATCTTCTCTCCCATGCCCCTGCCATACACTTGCATGCATGCAGGCACGCACACACATAAACCCACATACAGTTTAACTTCATCCCTTCCAGATCTGTTTTGTCTTCCTTTTAGCTTGTAGTGAACAGGACTCTGAGCCAGGGGCCCGGCTTACCTGCCGCATCCTCCTTCACCTTTTCAAGACACCGCAGCTCAATCCTTGCCAGTCTGATGGAAGTAAGTGACCCTGATCTGAACCAGCCAACAGTAGAAAGTGTGGTTCCCCTGCCTCCGTGGATTCTACTTTTGCTTCCCCTGACTTCATCGCCTTCCCCAGACAAGCCTACAGTAGGAATCCGCTCCTCCTGCGACCGCCACCTGCTGGCTGCCTCCCAGAACCGCATCGTGGATGGAGCCGTGTTTGCTGTTCTCAAGGCTGTGTTTGTACTTGGTACGGGGGTAGGAAGGGAGTGGTGCCAGAAGTGTGTATAGGGTGGAGTGCCAGCTAAACTACAAGGGACAGTCTTTCTCCCTTCTGAAGGTGGTCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCAGTCTGGATGTCTATGCCAAGTACGTGCTGCGCAGCATCTGCCAACAGGTCAGTTTCACCTTCCTCCCACACCTCCTAAATGCCTCTGTGTAATATAGTTCTGTTTCCAGCCCATGATCACACCAGCTCCCTACTATACATTGTGTTCCTTAACAACTCCAGCCCATCCCCCATATTCCTAACCCCCTCACTGGTTGTTCCCAGTCCCTGATTGTCAGCTTCCTCAGGAATGGGTAGGAGAACGTTGCCTTAAGTCTCTGTGTGAGGACAGCAATGACCTGCAAGACCCAGTGTTGAGTAGTGCCCAGGCGCAGCGCCTCATGCAGCTCATTTGCTATCCACATCGACTGCTGGACAATGAGGATGGGGAAAACCCCCAGCGGCAGCGCATAAAGCGCATTCTCCAGGTAGGCCAAGGCCGTGGGGGCTGTGGAGGAAGCAGTGGGCCCAATCTGGGGAGAAACAATAGGAACCTTGAGAAAAGGAGAGGGGCAGTTAAGTAGAGAGGAAGACAAACAAGGATATAGGGGAGGGGAGAGGTAGCGAGAGAAACAGCTCCAGCATGGGCTGAGGAGTAAGTCCAGTAGGGTCTAGACTCCAGTGTAAGAGTATTAGGTGAGGGCATAGCTATCTGGAGTGAATCTAGCTTATCAATGGGAAGCATAGCATCTGGGAGGCCTAGGTGTGGGCCGTGTATATTTGGCATTTTGGCCATGGCTCAGGAACTGAATAGTAATAGCTACTACTTGCTGAGCATGTGCTTTGTGCCAGGTACTGTGCTAGGCACTCTGCACACATTTCCTCATTTAATCTTTATGACCCTA
|
GGCTACGGAGGGTCATAAGGACAGGCGTAGAGGCTCCAGCCAGTTTCCCAAGCTATTTGAAGGGGCAGAAAGACTAGCATGGGGGGAGTGGAACATGAGCTAAGACTGCAGGAATAGAGACTTAAGTGCTCCCTGGGGAGGCCAAGAGGCAGATTAGAGCATTGGGCACAGACCATCCTCCCACTGTGGAGTTCATAGAACTGTATCCTGGACACTGGTTAGAGGTGTTGTTGATAGAATAAACTATCAACAATAAACTATCAATAGAGGTGTTGTTGATAGACTGTGGCATAGGGTAACGAGCCCTTCTATCCTGTGGTGGCTCCAGCAGGAAGGGGCTCAGGCCCAGCCTTGCCAGCGTCCCCACAGGAAGGTGGTTTCTATGTAACACAAGGGGCCTCTTTGCATTTCTCACCCCCGTTTACTCTGCTAGCTGCTGAATGAACTGAGTGTAGTTGAGGCTGAGCTGCTTCTCAAATCCTCGGATCTGGTGGGCAGCTACACTACTAGCCTGTGCCTGTGCATCGTGGCTGTCCTGCGGCACTATCATGCCTGCCTCATCCTCAACCAGGACCAGATGGCACAGGTCTTTGAGGGGTAAGCAGAGCTTCGGAATAACTGAAACAAAGCTCTGGCGAATGCCGGTGGAAGTGGCCTGGGAAGAGCATGCACTTCCTCACACTCTGGGGAAGCACCTGCTGCTCAGGTGGGAAAAGAATGGTATTTCCCAGAGGCTTGAATCTGTTTGGAGGAGCCCGCATACCATCTGCTGACCCTCCCAACCTTGCTTCTTCATGCAGGCTGTGTGGCGTCGTGAAGCATGGGATGAACCGGTCCGATGGCTCCTCTGCAGAGCGCTGTATCCTTGCTTATCTCTATGATCTGTACACCTCCTGTAGCCATTTAAAGAACAAATTTGGGGAGCTCTTCAGGTAAGAGAGGTGGAAGGTAAGGGGTAGCGAGTGGGACCTACTCCCTTCTTCCCATGACCACCCAACTCAGGAGGAGAGGATGGCCCGGGACCCTGCTGCCTGTCTAGGGTCATTTGTGGACTGTGTCCTCCACATACTGTTGTGTTACCAAGAGTGGGCCCTCTTCCTCAGCAGGCTTGCTCCCCGCCTATATCTGTGGGGCCCACCCTCTTCCCCCTTTTCCTCACTGCCTTCAGAGGCCCCAGTTCCTTATTCCCATGTGGTTCCTTTCCTGCCCAGTCTGTTTTGTCCCATCTCCCTTTTCTTGTCTCAAGATCCTTCATCCCTCACTTTCTCCTTTTTTTCTTTTCTCCCCTTTCCTGACCATCCCTCGACCTCAGCAGGCCTTCTTCAACACTACTATCTCCTTTCCTCCATCCCTGCAGCGACTTTTGCTCAAAGGTGAAGAACACCATCTACTGCAACGTGGAGCCATCGGAATCAAATATGCGCTGGGCACCTGAGTTCATGATCGACACTCTAGAGAACCCTGCAGCTCACACCTTCACCTACACGGGGCTAGGCAAGAGTCTTAGTGAGAACCCTGCTAACCGCTACAGCTTTGTCTGCAATGCCCTTATGCACGTCTGTGTGGGGCACCATGATCCCGATAGGTATGGGGTGTACTGAGTGAGGAAGGGCACCATGCCCCCATCTGAGATAGGGAGGGCTGAGGTACCCGGGAGGTACTACAACCTTGATTATTTAGTGGGGCAGAGATGAGAAGTTAATGGGTCTGAGGTTTTGTGGAGCAAGGTTTTTCCTGAGGGCATTTGTACTTTTCCCTAGGGTGAATGACATCGCAATCCTGTGTGCAGAGCTGACCGGCTATTGCAAGTCACTGAGTGCAGAATGGCTAGGAGTGCTTAAGGCCTTGTGCTGCTCCTCTAACAATGGCACTTGTGGTTTCAACGATCTCCTCTGCAATGTTGATGTGAGACTTGGGGTGGGGTTTTGCTAGTGGGGCAGTGACCAGGGCAGGGGGCTGGTTGTGATCCTCTGACCAGGGACAGAGTTCCGTAGAGTGGAGGCACACCGCTTTGAGTGGGCCTCCACACTGAGTCATGGTGTCTGTCTGTTTTTTTCCTCCAGGTCAGTGACCTATCTTTTCATGACTCGCTGGCTACTTTTGTTGCCATCCTCATCGCTCGGCAGTGTTTGCTCCTGGAAGATCTGATTCGCTGTGCTGCCATCCCTTCACTCCTTAATGCTGGTGAACTACCAATCTGTAACCCCTAGCATTTCTAGACCTCAAATTTCAATACACACTGGACGGCCATCCTCTCATTGTTCACTGTGGGAGACCTTGCTGCGGCTCCCTGGCCTTCCTCAGAAGGCCAGTCCTTTGGTATGCTGAAGGCTAGAAGAAACCTGTTTTTTAGCCCTGGATTTGCAGCCCTGACCTTTCCAATTTCTGACCCTTCAACTGCGTAACAGTTCTCTGCTCTACCTCGCTTTCAATATTATCTTGCTTTTTCTCCTTTCACTTTACCTCATCTTCTCTCCCATGCCCCTGCCATACACTTGCATGCATGCAGGCACGCACACACATAAACCCACATACAGTTTAACTTCATCCCTTCCAGATCTGTTTTGTCTTCCTTTTAGCTTGTAGTGAACAGGACTCTGAGCCAGGGGCCCGGCTTACCTGCCGCATCCTCCTTCACCTTTTCAAGACACCGCAGCTCAATCCTTGCCAGTCTGATGGAAGTAAGTGACCCTGATCTGAACCAGCCAACAGTAGAAAGTGTGGTTCCCCTGCCTCCGTGGATTCTACTTTTGCTTCCCCTGACTTCATCGCCTTCCCCAGACAAGCCTACAGTAGGAATCCGCTCCTCCTGCGACCGCCACCTGCTGGCTGCCTCCCAGAACCGCATCGTGGATGGAGCCGTGTTTGCTGTTCTCAAGGCTGTGTTTGTACTTGGTACGGGGGTAGGAAGGGAGTGGTGCCAGAAGTGTGTATAGGGTGGAGTGCCAGCTAAACTACAAGGGACAGTCTTTCTCCCTTCTGAAGGTGGTCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCAGTCTGGATGTCTATGCCAAGTACGTGCTGCGCAGCATCTGCCAACAGGTCAGTTTCACCTTCCTCCCACACCTCCTAAATGCCTCTGTGTAATATAGTTCTGTTTCCAGCCCATGATCACACCAGCTCCCTACTATACATTGTGTTCCTTAACAACTCCAGCCCATCCCCCATATTCCTAACCCCCTCACTGGTTGTTCCCAGTCCCTGATTGTCAGCTTCCTCAGGAATGGGTAGGAGAACGTTGCCTTAAGTCTCTGTGTGAGGACAGCAATGACCTGCAAGACCCAGTGTTGAGTAGTGCCCAGGCGCAGCGCCTCATGCAGCTCATTTGCTATCCACATCGACTGCTGGACAATGAGGATGGGGAAAACCCCCAGCGGCAGCGCATAAAGCGCATTCTCCAGGTAGGCCAAGGCCGTGGGGGCTGTGGAGGAAGCAGTGGGCCCAATCTGGGGAGAAACAATAGGAACCTTGAGAAAAGGAGAGGGGCAGTTAAGTAGAGAGGAAGACAAACAAGGATATAGGGGAGGGGAGAGGTAGCGAGAGAAACAGCTCCAGCATGGGCTGAGGAGTAAGTCCAGTAGGGTCTAGACTCCAGTGTAAGAGTATTAGGTGAGGGCATAGCTATCTGGAGTGAATCTAGCTTATCAATGGGAAGCATAGCATCTGGGAGGCCTAGGTGTGGGCCGTGTATATTTGGCATTTTGGCCATGGCTCAGGAACTGAATAGTAATAGCTACTACTTGCTGAGCATGTGCTTTGTGCCAGGTACTGTGCTAGGCACTCTGCACACATTTCCTCATTTAATCTTTATGACCCT
|
benign
| 335,750 |
A genetic alteration at chromosome X, position 71131537, in gene MED12 (mediator complex subunit 12)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
benign
|
CTACAAGGGACAGTCTTTCTCCCTTCTGAAGGTGGTCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCAGTCTGGATGTCTATGCCAAGTACGTGCTGCGCAGCATCTGCCAACAGGTCAGTTTCACCTTCCTCCCACACCTCCTAAATGCCTCTGTGTAATATAGTTCTGTTTCCAGCCCATGATCACACCAGCTCCCTACTATACATTGTGTTCCTTAACAACTCCAGCCCATCCCCCATATTCCTAACCCCCTCACTGGTTGTTCCCAGTCCCTGATTGTCAGCTTCCTCAGGAATGGGTAGGAGAACGTTGCCTTAAGTCTCTGTGTGAGGACAGCAATGACCTGCAAGACCCAGTGTTGAGTAGTGCCCAGGCGCAGCGCCTCATGCAGCTCATTTGCTATCCACATCGACTGCTGGACAATGAGGATGGGGAAAACCCCCAGCGGCAGCGCATAAAGCGCATTCTCCAGGTAGGCCAAGGCCGTGGGGGCTGTGGAGGAAGCAGTGGGCCCAATCTGGGGAGAAACAATAGGAACCTTGAGAAAAGGAGAGGGGCAGTTAAGTAGAGAGGAAGACAAACAAGGATATAGGGGAGGGGAGAGGTAGCGAGAGAAACAGCTCCAGCATGGGCTGAGGAGTAAGTCCAGTAGGGTCTAGACTCCAGTGTAAGAGTATTAGGTGAGGGCATAGCTATCTGGAGTGAATCTAGCTTATCAATGGGAAGCATAGCATCTGGGAGGCCTAGGTGTGGGCCGTGTATATTTGGCATTTTGGCCATGGCTCAGGAACTGAATAGTAATAGCTACTACTTGCTGAGCATGTGCTTTGTGCCAGGTACTGTGCTAGGCACTCTGCACACATTTCCTCATTTAATCTTTATGACCCTATGAAGTAGGTGAGCCTCCCTGTTTGACCGATGAGGAAACTGAGGCTTGAAGAGGTTAAGTAACTTGTCTAACGTCACATAGCCCATAAGTTTAGAGTCAATATGTGAACCCAGACATGTCTGTGCACTTTCCTCTTCACATTGCTTCACACCTTCAGATGACCAGAGAGTGGAAAAATAAAGCCGTTGAGGAAAAGCTAAAGGAATAAGGTCTCTTCAGCCCAGAAGAGATAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACGAAGGGATGGGAAAGATGTGAAATCTTTCCTGAACTATTTTAAAAATTGGAAAGATTTTCAACTAGTTTGGACTATTTAAATGTAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTGTCGCTCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGTCGCCCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCAGCCTCCCTAAATGTAGTCTTTCTTAAAGATGGGGACATAGAGGTCCCTTTCAGACCTCCAGGAGTCTGTGATTCAATGTTGCAGGAGATCAGGAATTGGCCTCAGATTGTTGGGTAGCTGGGGGTAACACGATGATGACTAGCCTGGGTGTGGGGCCTCTATCACAGAACTTGGACCAGTGGACCATGCGCCAGTCTTCCTTGGAGCTGCAGCTCATGATCAAGCAGACCCCTAACAATGTGAGTAGTGCCTGGACCCTCCCTTTCCTGTGCTCACGTTCAGCTCCATGTGTCAGGGAGGCGGTCCACCACAGAAGAACCTAGATCCTACCCTTGGGCTCTTGAGCTGAGAGATAAGAGGGGATGGGAAAATGGTGAACAAGTGGAGCTGATGATAAGGGAAATGGGTTGAGAGTGTTGGAGCTCTGAGCTGTGGGGAAGCTTGGTGGTGGTGGTGGAGCCTGTTTCTCTGGCCATAGATGTAAGGAGGTATGTAAAGGAGAAGACAGTGAGGAATTGGAGAAATATGGAGGTACTAGAGGGCATGATTCCCAACAGAGTTGCGTTCCTATCTCCCCATCAATCTCCGCCAGTGTTGTCCTTCTCCGTCATCTCCGATCTCTCCTACCATCTGCTTTCCTTCACCCTTAGCTACCTATTTTAGCACTTCTGTGCCTTTCATCCTCCCCAGGAGATGAACTCCCTCTTGGAGAACATCGCCAAGGCCACAATCGAGGTTTTCCAACAGTCAGCAGAGACAGGGTCATCTTCTGGAAGTACTGCAAGCAACATGCCCAGCAGCAGCAAGACCAAGCCTGTGCTCAGGTCGGATAGAAACATGTTAGGACCCATCCCCTTAGGAGTTTATCTGCTGGTAGCGTGAGTGATATCAGATGCGTGGAGATGCCAGCATGTCCATCAGGGAAAGGAGAGGATAGATTGTTCCAGCCTTGCCTGGCTCCCCTGTGACCCTGTGTCCTCTGTCTGTTCTCCAGCTCTCTAGAGCGCTCTGGTGTATGGCTGGTGGCCCCCCTCATTGCTAAACTGCCCACCTCAGTCCAGGGACATGTGTTAAAGGCTGCTGGGGAAGAATTGGAGAAGGGTCAGCACCTGGGTTCCTCTTCACGCAAAGAACGTGATCGACAAAAGCAGAAGAGGTAAAGGGGCTTAGGGAGTGGACCAAGATTGAGGGGTAGAAAGGAGAAGAGGCAGGCCCGGGGAAGAATAAAATGGGCCAAGGAGAAGCATCATAGGAAAGTGGAAAATCAGAGGATAAGAGTGGGCATGGCTGAGCAAGAGGCTAGATCTTAAGAGAGTAGTCTGGAGAATGAGGTTGGAAGTTGACTCCCAACCCACAGTCTCCCTTTTCTCCTCTCCTCTTCTCTCCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCTTGTCTCTAGCATGTCCCTATTGAGCCAGCAGCCCTTCTTATCGCTGGTGCTAACATGTCTGAAAGGGCAGGATGAACAACGCGAGGGACTCCTTACCTCCCTCTACAGCCAGGTGCACCAGGTACAGATCTCTGGGCCATGGAGGTGGGCAGGAGGTCAGGGAAGGATGCACCTAAGGGGTTACTCTGTACTTGGAAACTTCAGTACTTTCTGATAAACATATTGGCTGCTGTGGGATGGAAACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGGTAGGGCTGGAAATGCGGAGTGCAAAAGCCTCAGGTTGGGGAGAATGGGGGTAAGGATAGAGGCCCCAGGTTATTCTGAGTCTTGAAGGGTTTTTTTTTTTTTTGGAGTCAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCGTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCTGGCTAATTTTTGTATTTTTCATAGAGATGGGGTTTGACCATGCTGGTCAGGCTGGTCTTGAACTCCTTACCTCAAATGATCCGTCTGTCT
|
CTACAAGGGACAGTCTTTCTCCCTTCTGAAGGTGGTCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCAGTCTGGATGTCTATGCCAAGTACGTGCTGCGCAGCATCTGCCAACAGGTCAGTTTCACCTTCCTCCCACACCTCCTAAATGCCTCTGTGTAATATAGTTCTGTTTCCAGCCCATGATCACACCAGCTCCCTACTATACATTGTGTTCCTTAACAACTCCAGCCCATCCCCCATATTCCTAACCCCCTCACTGGTTGTTCCCAGTCCCTGATTGTCAGCTTCCTCAGGAATGGGTAGGAGAACGTTGCCTTAAGTCTCTGTGTGAGGACAGCAATGACCTGCAAGACCCAGTGTTGAGTAGTGCCCAGGCGCAGCGCCTCATGCAGCTCATTTGCTATCCACATCGACTGCTGGACAATGAGGATGGGGAAAACCCCCAGCGGCAGCGCATAAAGCGCATTCTCCAGGTAGGCCAAGGCCGTGGGGGCTGTGGAGGAAGCAGTGGGCCCAATCTGGGGAGAAACAATAGGAACCTTGAGAAAAGGAGAGGGGCAGTTAAGTAGAGAGGAAGACAAACAAGGATATAGGGGAGGGGAGAGGTAGCGAGAGAAACAGCTCCAGCATGGGCTGAGGAGTAAGTCCAGTAGGGTCTAGACTCCAGTGTAAGAGTATTAGGTGAGGGCATAGCTATCTGGAGTGAATCTAGCTTATCAATGGGAAGCATAGCATCTGGGAGGCCTAGGTGTGGGCCGTGTATATTTGGCATTTTGGCCATGGCTCAGGAACTGAATAGTAATAGCTACTACTTGCTGAGCATGTGCTTTGTGCCAGGTACTGTGCTAGGCACTCTGCACACATTTCCTCATTTAATCTTTATGACCCTATGAAGTAGGTGAGCCTCCCTGTTTGACCGATGAGGAAACTGAGGCTTGAAGAGGTTAAGTAACTTGTCTAACGTCACATAGCCCATAAGTTTAGAGTCAATATGTGAACCCAGACATGTCTGTGCACTTTCCTCTTCACATTGCTTCACACCTTCAGATGACCAGAGAGTGGAAAAATAAAGCCGTTGAGGAAAAGCTAAAGGAATAAGGTCTCTTCAGCCCAGAAGAGATAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACGAAGGGATGGGAAAGATGTGAAATCTTTCCTGAACTATTTTAAAAATTGGAAAGATTTTCAACTAGTTTGGACTATTTAAATGTAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTGTCGCTCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGTCGCCCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCAGCCTCCCTAAATGTAGTCTTTCTTAAAGATGGGGACATAGAGGTCCCTTTCAGACCTCCAGGAGTCTGTGATTCAATGTTGCAGGAGATCAGGAATTGGCCTCAGATTGTTGGGTAGCTGGGGGTAACACGATGATGACTAGCCTGGGTGTGGGGCCCTCTATCACAGAACTTGGACCAGTGGACCATGCGCCAGTCTTCCTTGGAGCTGCAGCTCATGATCAAGCAGACCCCTAACAATGTGAGTAGTGCCTGGACCCTCCCTTTCCTGTGCTCACGTTCAGCTCCATGTGTCAGGGAGGCGGTCCACCACAGAAGAACCTAGATCCTACCCTTGGGCTCTTGAGCTGAGAGATAAGAGGGGATGGGAAAATGGTGAACAAGTGGAGCTGATGATAAGGGAAATGGGTTGAGAGTGTTGGAGCTCTGAGCTGTGGGGAAGCTTGGTGGTGGTGGTGGAGCCTGTTTCTCTGGCCATAGATGTAAGGAGGTATGTAAAGGAGAAGACAGTGAGGAATTGGAGAAATATGGAGGTACTAGAGGGCATGATTCCCAACAGAGTTGCGTTCCTATCTCCCCATCAATCTCCGCCAGTGTTGTCCTTCTCCGTCATCTCCGATCTCTCCTACCATCTGCTTTCCTTCACCCTTAGCTACCTATTTTAGCACTTCTGTGCCTTTCATCCTCCCCAGGAGATGAACTCCCTCTTGGAGAACATCGCCAAGGCCACAATCGAGGTTTTCCAACAGTCAGCAGAGACAGGGTCATCTTCTGGAAGTACTGCAAGCAACATGCCCAGCAGCAGCAAGACCAAGCCTGTGCTCAGGTCGGATAGAAACATGTTAGGACCCATCCCCTTAGGAGTTTATCTGCTGGTAGCGTGAGTGATATCAGATGCGTGGAGATGCCAGCATGTCCATCAGGGAAAGGAGAGGATAGATTGTTCCAGCCTTGCCTGGCTCCCCTGTGACCCTGTGTCCTCTGTCTGTTCTCCAGCTCTCTAGAGCGCTCTGGTGTATGGCTGGTGGCCCCCCTCATTGCTAAACTGCCCACCTCAGTCCAGGGACATGTGTTAAAGGCTGCTGGGGAAGAATTGGAGAAGGGTCAGCACCTGGGTTCCTCTTCACGCAAAGAACGTGATCGACAAAAGCAGAAGAGGTAAAGGGGCTTAGGGAGTGGACCAAGATTGAGGGGTAGAAAGGAGAAGAGGCAGGCCCGGGGAAGAATAAAATGGGCCAAGGAGAAGCATCATAGGAAAGTGGAAAATCAGAGGATAAGAGTGGGCATGGCTGAGCAAGAGGCTAGATCTTAAGAGAGTAGTCTGGAGAATGAGGTTGGAAGTTGACTCCCAACCCACAGTCTCCCTTTTCTCCTCTCCTCTTCTCTCCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCTTGTCTCTAGCATGTCCCTATTGAGCCAGCAGCCCTTCTTATCGCTGGTGCTAACATGTCTGAAAGGGCAGGATGAACAACGCGAGGGACTCCTTACCTCCCTCTACAGCCAGGTGCACCAGGTACAGATCTCTGGGCCATGGAGGTGGGCAGGAGGTCAGGGAAGGATGCACCTAAGGGGTTACTCTGTACTTGGAAACTTCAGTACTTTCTGATAAACATATTGGCTGCTGTGGGATGGAAACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGGTAGGGCTGGAAATGCGGAGTGCAAAAGCCTCAGGTTGGGGAGAATGGGGGTAAGGATAGAGGCCCCAGGTTATTCTGAGTCTTGAAGGGTTTTTTTTTTTTTTGGAGTCAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCGTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCTGGCTAATTTTTGTATTTTTCATAGAGATGGGGTTTGACCATGCTGGTCAGGCTGGTCTTGAACTCCTTACCTCAAATGATCCGTCTGTC
|
benign
| 335,780 |
A genetic variant at chromosome X, position 71132767, affecting gene MED12 (mediator complex subunit 12)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
benign
|
AGTTTAGAGTCAATATGTGAACCCAGACATGTCTGTGCACTTTCCTCTTCACATTGCTTCACACCTTCAGATGACCAGAGAGTGGAAAAATAAAGCCGTTGAGGAAAAGCTAAAGGAATAAGGTCTCTTCAGCCCAGAAGAGATAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACGAAGGGATGGGAAAGATGTGAAATCTTTCCTGAACTATTTTAAAAATTGGAAAGATTTTCAACTAGTTTGGACTATTTAAATGTAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTGTCGCTCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGTCGCCCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCAGCCTCCCTAAATGTAGTCTTTCTTAAAGATGGGGACATAGAGGTCCCTTTCAGACCTCCAGGAGTCTGTGATTCAATGTTGCAGGAGATCAGGAATTGGCCTCAGATTGTTGGGTAGCTGGGGGTAACACGATGATGACTAGCCTGGGTGTGGGGCCTCTATCACAGAACTTGGACCAGTGGACCATGCGCCAGTCTTCCTTGGAGCTGCAGCTCATGATCAAGCAGACCCCTAACAATGTGAGTAGTGCCTGGACCCTCCCTTTCCTGTGCTCACGTTCAGCTCCATGTGTCAGGGAGGCGGTCCACCACAGAAGAACCTAGATCCTACCCTTGGGCTCTTGAGCTGAGAGATAAGAGGGGATGGGAAAATGGTGAACAAGTGGAGCTGATGATAAGGGAAATGGGTTGAGAGTGTTGGAGCTCTGAGCTGTGGGGAAGCTTGGTGGTGGTGGTGGAGCCTGTTTCTCTGGCCATAGATGTAAGGAGGTATGTAAAGGAGAAGACAGTGAGGAATTGGAGAAATATGGAGGTACTAGAGGGCATGATTCCCAACAGAGTTGCGTTCCTATCTCCCCATCAATCTCCGCCAGTGTTGTCCTTCTCCGTCATCTCCGATCTCTCCTACCATCTGCTTTCCTTCACCCTTAGCTACCTATTTTAGCACTTCTGTGCCTTTCATCCTCCCCAGGAGATGAACTCCCTCTTGGAGAACATCGCCAAGGCCACAATCGAGGTTTTCCAACAGTCAGCAGAGACAGGGTCATCTTCTGGAAGTACTGCAAGCAACATGCCCAGCAGCAGCAAGACCAAGCCTGTGCTCAGGTCGGATAGAAACATGTTAGGACCCATCCCCTTAGGAGTTTATCTGCTGGTAGCGTGAGTGATATCAGATGCGTGGAGATGCCAGCATGTCCATCAGGGAAAGGAGAGGATAGATTGTTCCAGCCTTGCCTGGCTCCCCTGTGACCCTGTGTCCTCTGTCTGTTCTCCAGCTCTCTAGAGCGCTCTGGTGTATGGCTGGTGGCCCCCCTCATTGCTAAACTGCCCACCTCAGTCCAGGGACATGTGTTAAAGGCTGCTGGGGAAGAATTGGAGAAGGGTCAGCACCTGGGTTCCTCTTCACGCAAAGAACGTGATCGACAAAAGCAGAAGAGGTAAAGGGGCTTAGGGAGTGGACCAAGATTGAGGGGTAGAAAGGAGAAGAGGCAGGCCCGGGGAAGAATAAAATGGGCCAAGGAGAAGCATCATAGGAAAGTGGAAAATCAGAGGATAAGAGTGGGCATGGCTGAGCAAGAGGCTAGATCTTAAGAGAGTAGTCTGGAGAATGAGGTTGGAAGTTGACTCCCAACCCACAGTCTCCCTTTTCTCCTCTCCTCTTCTCTCCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCTTGTCTCTAGCATGTCCCTATTGAGCCAGCAGCCCTTCTTATCGCTGGTGCTAACATGTCTGAAAGGGCAGGATGAACAACGCGAGGGACTCCTTACCTCCCTCTACAGCCAGGTGCACCAGGTACAGATCTCTGGGCCATGGAGGTGGGCAGGAGGTCAGGGAAGGATGCACCTAAGGGGTTACTCTGTACTTGGAAACTTCAGTACTTTCTGATAAACATATTGGCTGCTGTGGGATGGAAACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGGTAGGGCTGGAAATGCGGAGTGCAAAAGCCTCAGGTTGGGGAGAATGGGGGTAAGGATAGAGGCCCCAGGTTATTCTGAGTCTTGAAGGGTTTTTTTTTTTTTTGGAGTCAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCGTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCTGGCTAATTTTTGTATTTTTCATAGAGATGGGGTTTGACCATGCTGGTCAGGCTGGTCTTGAACTCCTTACCTCAAATGATCCGTCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTGAGTCTTGAAGTATTAACCTTGTTCTCTGAAAGTATGCAGGGACTGAAAGTGGTTAAGGGGGCTGGATCACTGTGGTCATGGTCCAATAGGTTATGTACCCTGGATCCTTGCAGGGCCTCTGCCTCAGTATCCTAGATTCTGACTGGGCCCTAGAAGCACTGGAAACCCACTGTGGAATGTTGAATGGAATCCTGGAAATCATTCTGTCCAATTCCCATCACTTTCTAAGTATGGAAACAGAGGCCTAGAGACGTCAAGAATTCCGTCATTGTCTTGAGATCATGTAGCAAATCATAGGCTCAACTCAAGCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGTTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTTTGCAGTAAGCCGAGGTCGCGCCACTGCACTCTAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACTCAAGCATGAACTCAGGCGTCCCAACTCAGATTGGAACTAAGCTTTCCTGAAACTCTGGCCTTTGTCCCTGAGCCATCTGACTGACTTGTTGTGGCCCTGGCAGGTGGGGGGCATGTTTGACACGGTGCAGCGCAGCACCCAGCAGACCACGGAGTGGGCCATGCTCCTCCTGGAGATCATCATCAGCGGCACTGTCGACATGCAGTCCAACAAGTAAAGCATCCCCACCCGCTCCCTGCAGTTTCATACCCAAGAAGCTCCCCCTACTCCCATGCCAGGTGCACCCACTGAGATTGGTGTGGCTGTTACTGTGGACTCCGTGGCCCTGGGCTCCCCATACAGTTTTGGTGCCCTTGGGATGACATATTAAGCACCTCTCCCTGCTTGTGTCCTCTGCTGAGGCCTTTTTCTATCTTCACCTCTTTCTTCTTTGGTTTTCTCTCTGGCTTCCTGTCTCAGTGAGCTCTTCACTACTGTGTTGGACATGCTGAGCGTGCTCATCAATGGGACATTGGCTGCAGACATGTCTAGCATCTCGCAAGGTAGCATGGAGGAAAACAA
|
AGTTTAGAGTCAATATGTGAACCCAGACATGTCTGTGCACTTTCCTCTTCACATTGCTTCACACCTTCAGATGACCAGAGAGTGGAAAAATAAAGCCGTTGAGGAAAAGCTAAAGGAATAAGGTCTCTTCAGCCCAGAAGAGATAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACGAAGGGATGGGAAAGATGTGAAATCTTTCCTGAACTATTTTAAAAATTGGAAAGATTTTCAACTAGTTTGGACTATTTAAATGTAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTGTCGCTCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGTCGCCCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCAGCCTCCCTAAATGTAGTCTTTCTTAAAGATGGGGACATAGAGGTCCCTTTCAGACCTCCAGGAGTCTGTGATTCAATGTTGCAGGAGATCAGGAATTGGCCTCAGATTGTTGGGTAGCTGGGGGTAACACGATGATGACTAGCCTGGGTGTGGGGCCTCTATCACAGAACTTGGACCAGTGGACCATGCGCCAGTCTTCCTTGGAGCTGCAGCTCATGATCAAGCAGACCCCTAACAATGTGAGTAGTGCCTGGACCCTCCCTTTCCTGTGCTCACGTTCAGCTCCATGTGTCAGGGAGGCGGTCCACCACAGAAGAACCTAGATCCTACCCTTGGGCTCTTGAGCTGAGAGATAAGAGGGGATGGGAAAATGGTGAACAAGTGGAGCTGATGATAAGGGAAATGGGTTGAGAGTGTTGGAGCTCTGAGCTGTGGGGAAGCTTGGTGGTGGTGGTGGAGCCTGTTTCTCTGGCCATAGATGTAAGGAGGTATGTAAAGGAGAAGACAGTGAGGAATTGGAGAAATATGGAGGTACTAGAGGGCATGATTCCCAACAGAGTTGCGTTCCTATCTCCCCATCAATCTCCGCCAGTGTTGTCCTTCTCCGTCATCTCCGATCTCTCCTACCATCTGCTTTCCTTCACCCTTAGCTACCTATTTTAGCACTTCTGTGCCTTTCATCCTCCCCAGGAGATGAACTCCCTCTTGGAGAACATCGCCAAGGCCACAATCGAGGTTTTCCAACAGTCAGCAGAGACAGGGTCATCTTCTGGAAGTACTGCAAGCAACATGCCCAGCAGCAGCAAGACCAAGCCTGTGCTCAGGTCGGATAGAAACATGTTAGGACCCATCCCCTTAGGAGTTTATCTGCTGGTAGCGTGAGTGATATCAGATGCGTGGAGATGCCAGCATGTCCATCAGGGAAAGGAGAGGATAGATTGTTCCAGCCTTGCCTGGCTCCCCTGTGACCCTGTGTCCTCTGTCTGTTCTCCAGCTCTCTAGAGCGCTCTGGTGTATGGCTGGTGGCCCCCCTCATTGCTAAACTGCCCACCTCAGTCCAGGGACATGTGTTAAAGGCTGCTGGGGAAGAATTGGAGAAGGGTCAGCACCTGGGTTCCTCTTCACGCAAAGAACGTGATCGACAAAAGCAGAAGAGGTAAAGGGGCTTAGGGAGTGGACCAAGATTGAGGGGTAGAAAGGAGAAGAGGCAGGCCCGGGGAAGAATAAAATGGGCCAAGGAGAAGCATCATAGGAAAGTGGAAAATCAGAGGATAAGAGTGGGCATGGCTGAGCAAGAGGCTAGATCTTAAGAGAGTAGTCTGGAGAATGAGGTTGGAAGTTGACTCCCAACCCACAGTCTCCCTTTTCTCCTCTCCTCTTCTCTCCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCTTGTCTCTAGCATGTCCCTATTGAGCCAGCAGCCCTTCTTATCGCTGGTGCTAACATGTCTGAAAGGGCAGGATGAACAACGCGAGGGACTCCTTACCTCCCTCTACAGCCAGGTGCACCAGGTACAGATCTCTGGGCCATGGAGGTGGGCAGGAGGTCAGGGAAGGATGCACCTAAGGGGTTACTCTGTACTTGGAAACTTCAGTACTTTCTGATAAACATATTGGCTGCTGTGGGATGGAAACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGGTAGGGCTGGAAATGCGGAGTGCAAAAGCCTCAGGTTGGGGAGAATGGGGGTAAGGATAGAGGCCCCAGGTTATTCTGAGTCTTGAAGGGTTTTTTTTTTTTTTGGAGTCAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCGTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCTGGCTAATTTTTGTATTTTTCATAGAGATGGGGTTTGACCATGCTGGTCAGGCTGGTCTTGAACTCCTTACCTCAAATGATCCGTCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTGAGTCTTGAAGTATTAACCTTGTTCTCTGAAAGTATGCAGGGACTGAAAGTGGTTAAGGGGGCTGGATCACTGTGGTCATGGTCCAATAGGTTATGTACCCTGGATCCTTGCAGGGCCTCTGCCTCAGTATCCTAGATTCTGACTGGGCCCTAGAAGCACTGGAAACCCACTGTGGAATGTTGAATGGAATCCTGGAAATCATTCTGTCCAATTCCCATCACTTTCTAAGTATGGAAACAGAGGCCTAGAGACGTCAAGAATTCCGTCATTGTCTTGAGATCATGTAGCAAATCATAGGCTCAACTCAAGCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGTTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTTTGCAGTAAGCCGAGGTCGCGCCACTGCACTCTAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACTCAAGCATGAACTCAGGCGTCCCAACTCAGATTGGAACTAAGCTTTCCTGAAACTCTGGCCTTTGTCCCTGAGCCATCTGACTGACTTGTTGTGGCCCTGGCAGGTGGGGGGCATGTTTGACACGGTGCAGCGCAGCACCCAGCAGACCACGGAGTGGGCCATGCTCCTCCTGGAGATCATCATCAGCGGCACTGTCGACATGCAGTCCAACAAGTAAAGCATCCCCACCCGCTCCCTGCAGTTTCATACCCAAGAAGCTCCCCCTACTCCCATGCCAGGTGCACCCACTGAGATTGGTGTGGCTGTTACTGTGGACTCCGTGGCCCTGGGCTCCCCATACAGTTTTGGTGCCCTTGGGATGACATATTAAGCACCTCTCCCTGCTTGTGTCCTCTGCTGAGGCCTTTTTCTATCTTCACCTCTTTCTTCTTTGGTTTTCTCTCTGGCTTCCTGTCTCAGTGAGCTCTTCACTACTGTGTTGGACATGCTGAGCGTGCTCATCAATGGGACATTGGCTGCAGACATGTCTAGCATCTCGCAAGGTAGCATGG
|
benign
| 335,796 |
A genetic alteration at chromosome X, position 71132767, in gene MED12 (mediator complex subunit 12)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
benign
|
AGTTTAGAGTCAATATGTGAACCCAGACATGTCTGTGCACTTTCCTCTTCACATTGCTTCACACCTTCAGATGACCAGAGAGTGGAAAAATAAAGCCGTTGAGGAAAAGCTAAAGGAATAAGGTCTCTTCAGCCCAGAAGAGATAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACGAAGGGATGGGAAAGATGTGAAATCTTTCCTGAACTATTTTAAAAATTGGAAAGATTTTCAACTAGTTTGGACTATTTAAATGTAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTGTCGCTCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGTCGCCCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCAGCCTCCCTAAATGTAGTCTTTCTTAAAGATGGGGACATAGAGGTCCCTTTCAGACCTCCAGGAGTCTGTGATTCAATGTTGCAGGAGATCAGGAATTGGCCTCAGATTGTTGGGTAGCTGGGGGTAACACGATGATGACTAGCCTGGGTGTGGGGCCTCTATCACAGAACTTGGACCAGTGGACCATGCGCCAGTCTTCCTTGGAGCTGCAGCTCATGATCAAGCAGACCCCTAACAATGTGAGTAGTGCCTGGACCCTCCCTTTCCTGTGCTCACGTTCAGCTCCATGTGTCAGGGAGGCGGTCCACCACAGAAGAACCTAGATCCTACCCTTGGGCTCTTGAGCTGAGAGATAAGAGGGGATGGGAAAATGGTGAACAAGTGGAGCTGATGATAAGGGAAATGGGTTGAGAGTGTTGGAGCTCTGAGCTGTGGGGAAGCTTGGTGGTGGTGGTGGAGCCTGTTTCTCTGGCCATAGATGTAAGGAGGTATGTAAAGGAGAAGACAGTGAGGAATTGGAGAAATATGGAGGTACTAGAGGGCATGATTCCCAACAGAGTTGCGTTCCTATCTCCCCATCAATCTCCGCCAGTGTTGTCCTTCTCCGTCATCTCCGATCTCTCCTACCATCTGCTTTCCTTCACCCTTAGCTACCTATTTTAGCACTTCTGTGCCTTTCATCCTCCCCAGGAGATGAACTCCCTCTTGGAGAACATCGCCAAGGCCACAATCGAGGTTTTCCAACAGTCAGCAGAGACAGGGTCATCTTCTGGAAGTACTGCAAGCAACATGCCCAGCAGCAGCAAGACCAAGCCTGTGCTCAGGTCGGATAGAAACATGTTAGGACCCATCCCCTTAGGAGTTTATCTGCTGGTAGCGTGAGTGATATCAGATGCGTGGAGATGCCAGCATGTCCATCAGGGAAAGGAGAGGATAGATTGTTCCAGCCTTGCCTGGCTCCCCTGTGACCCTGTGTCCTCTGTCTGTTCTCCAGCTCTCTAGAGCGCTCTGGTGTATGGCTGGTGGCCCCCCTCATTGCTAAACTGCCCACCTCAGTCCAGGGACATGTGTTAAAGGCTGCTGGGGAAGAATTGGAGAAGGGTCAGCACCTGGGTTCCTCTTCACGCAAAGAACGTGATCGACAAAAGCAGAAGAGGTAAAGGGGCTTAGGGAGTGGACCAAGATTGAGGGGTAGAAAGGAGAAGAGGCAGGCCCGGGGAAGAATAAAATGGGCCAAGGAGAAGCATCATAGGAAAGTGGAAAATCAGAGGATAAGAGTGGGCATGGCTGAGCAAGAGGCTAGATCTTAAGAGAGTAGTCTGGAGAATGAGGTTGGAAGTTGACTCCCAACCCACAGTCTCCCTTTTCTCCTCTCCTCTTCTCTCCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCTTGTCTCTAGCATGTCCCTATTGAGCCAGCAGCCCTTCTTATCGCTGGTGCTAACATGTCTGAAAGGGCAGGATGAACAACGCGAGGGACTCCTTACCTCCCTCTACAGCCAGGTGCACCAGGTACAGATCTCTGGGCCATGGAGGTGGGCAGGAGGTCAGGGAAGGATGCACCTAAGGGGTTACTCTGTACTTGGAAACTTCAGTACTTTCTGATAAACATATTGGCTGCTGTGGGATGGAAACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGGTAGGGCTGGAAATGCGGAGTGCAAAAGCCTCAGGTTGGGGAGAATGGGGGTAAGGATAGAGGCCCCAGGTTATTCTGAGTCTTGAAGGGTTTTTTTTTTTTTTGGAGTCAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCGTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCTGGCTAATTTTTGTATTTTTCATAGAGATGGGGTTTGACCATGCTGGTCAGGCTGGTCTTGAACTCCTTACCTCAAATGATCCGTCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTGAGTCTTGAAGTATTAACCTTGTTCTCTGAAAGTATGCAGGGACTGAAAGTGGTTAAGGGGGCTGGATCACTGTGGTCATGGTCCAATAGGTTATGTACCCTGGATCCTTGCAGGGCCTCTGCCTCAGTATCCTAGATTCTGACTGGGCCCTAGAAGCACTGGAAACCCACTGTGGAATGTTGAATGGAATCCTGGAAATCATTCTGTCCAATTCCCATCACTTTCTAAGTATGGAAACAGAGGCCTAGAGACGTCAAGAATTCCGTCATTGTCTTGAGATCATGTAGCAAATCATAGGCTCAACTCAAGCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGTTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTTTGCAGTAAGCCGAGGTCGCGCCACTGCACTCTAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACTCAAGCATGAACTCAGGCGTCCCAACTCAGATTGGAACTAAGCTTTCCTGAAACTCTGGCCTTTGTCCCTGAGCCATCTGACTGACTTGTTGTGGCCCTGGCAGGTGGGGGGCATGTTTGACACGGTGCAGCGCAGCACCCAGCAGACCACGGAGTGGGCCATGCTCCTCCTGGAGATCATCATCAGCGGCACTGTCGACATGCAGTCCAACAAGTAAAGCATCCCCACCCGCTCCCTGCAGTTTCATACCCAAGAAGCTCCCCCTACTCCCATGCCAGGTGCACCCACTGAGATTGGTGTGGCTGTTACTGTGGACTCCGTGGCCCTGGGCTCCCCATACAGTTTTGGTGCCCTTGGGATGACATATTAAGCACCTCTCCCTGCTTGTGTCCTCTGCTGAGGCCTTTTTCTATCTTCACCTCTTTCTTCTTTGGTTTTCTCTCTGGCTTCCTGTCTCAGTGAGCTCTTCACTACTGTGTTGGACATGCTGAGCGTGCTCATCAATGGGACATTGGCTGCAGACATGTCTAGCATCTCGCAAGGTAGCATGGAGGAAAACAA
|
AGTTTAGAGTCAATATGTGAACCCAGACATGTCTGTGCACTTTCCTCTTCACATTGCTTCACACCTTCAGATGACCAGAGAGTGGAAAAATAAAGCCGTTGAGGAAAAGCTAAAGGAATAAGGTCTCTTCAGCCCAGAAGAGATAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACGAAGGGATGGGAAAGATGTGAAATCTTTCCTGAACTATTTTAAAAATTGGAAAGATTTTCAACTAGTTTGGACTATTTAAATGTAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTGTCGCTCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGTCGCCCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCAGCCTCCCTAAATGTAGTCTTTCTTAAAGATGGGGACATAGAGGTCCCTTTCAGACCTCCAGGAGTCTGTGATTCAATGTTGCAGGAGATCAGGAATTGGCCTCAGATTGTTGGGTAGCTGGGGGTAACACGATGATGACTAGCCTGGGTGTGGGGCCTCTATCACAGAACTTGGACCAGTGGACCATGCGCCAGTCTTCCTTGGAGCTGCAGCTCATGATCAAGCAGACCCCTAACAATGTGAGTAGTGCCTGGACCCTCCCTTTCCTGTGCTCACGTTCAGCTCCATGTGTCAGGGAGGCGGTCCACCACAGAAGAACCTAGATCCTACCCTTGGGCTCTTGAGCTGAGAGATAAGAGGGGATGGGAAAATGGTGAACAAGTGGAGCTGATGATAAGGGAAATGGGTTGAGAGTGTTGGAGCTCTGAGCTGTGGGGAAGCTTGGTGGTGGTGGTGGAGCCTGTTTCTCTGGCCATAGATGTAAGGAGGTATGTAAAGGAGAAGACAGTGAGGAATTGGAGAAATATGGAGGTACTAGAGGGCATGATTCCCAACAGAGTTGCGTTCCTATCTCCCCATCAATCTCCGCCAGTGTTGTCCTTCTCCGTCATCTCCGATCTCTCCTACCATCTGCTTTCCTTCACCCTTAGCTACCTATTTTAGCACTTCTGTGCCTTTCATCCTCCCCAGGAGATGAACTCCCTCTTGGAGAACATCGCCAAGGCCACAATCGAGGTTTTCCAACAGTCAGCAGAGACAGGGTCATCTTCTGGAAGTACTGCAAGCAACATGCCCAGCAGCAGCAAGACCAAGCCTGTGCTCAGGTCGGATAGAAACATGTTAGGACCCATCCCCTTAGGAGTTTATCTGCTGGTAGCGTGAGTGATATCAGATGCGTGGAGATGCCAGCATGTCCATCAGGGAAAGGAGAGGATAGATTGTTCCAGCCTTGCCTGGCTCCCCTGTGACCCTGTGTCCTCTGTCTGTTCTCCAGCTCTCTAGAGCGCTCTGGTGTATGGCTGGTGGCCCCCCTCATTGCTAAACTGCCCACCTCAGTCCAGGGACATGTGTTAAAGGCTGCTGGGGAAGAATTGGAGAAGGGTCAGCACCTGGGTTCCTCTTCACGCAAAGAACGTGATCGACAAAAGCAGAAGAGGTAAAGGGGCTTAGGGAGTGGACCAAGATTGAGGGGTAGAAAGGAGAAGAGGCAGGCCCGGGGAAGAATAAAATGGGCCAAGGAGAAGCATCATAGGAAAGTGGAAAATCAGAGGATAAGAGTGGGCATGGCTGAGCAAGAGGCTAGATCTTAAGAGAGTAGTCTGGAGAATGAGGTTGGAAGTTGACTCCCAACCCACAGTCTCCCTTTTCTCCTCTCCTCTTCTCTCCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCTTGTCTCTAGCATGTCCCTATTGAGCCAGCAGCCCTTCTTATCGCTGGTGCTAACATGTCTGAAAGGGCAGGATGAACAACGCGAGGGACTCCTTACCTCCCTCTACAGCCAGGTGCACCAGGTACAGATCTCTGGGCCATGGAGGTGGGCAGGAGGTCAGGGAAGGATGCACCTAAGGGGTTACTCTGTACTTGGAAACTTCAGTACTTTCTGATAAACATATTGGCTGCTGTGGGATGGAAACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGGTAGGGCTGGAAATGCGGAGTGCAAAAGCCTCAGGTTGGGGAGAATGGGGGTAAGGATAGAGGCCCCAGGTTATTCTGAGTCTTGAAGGGTTTTTTTTTTTTTTGGAGTCAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCGTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCTGGCTAATTTTTGTATTTTTCATAGAGATGGGGTTTGACCATGCTGGTCAGGCTGGTCTTGAACTCCTTACCTCAAATGATCCGTCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTGAGTCTTGAAGTATTAACCTTGTTCTCTGAAAGTATGCAGGGACTGAAAGTGGTTAAGGGGGCTGGATCACTGTGGTCATGGTCCAATAGGTTATGTACCCTGGATCCTTGCAGGGCCTCTGCCTCAGTATCCTAGATTCTGACTGGGCCCTAGAAGCACTGGAAACCCACTGTGGAATGTTGAATGGAATCCTGGAAATCATTCTGTCCAATTCCCATCACTTTCTAAGTATGGAAACAGAGGCCTAGAGACGTCAAGAATTCCGTCATTGTCTTGAGATCATGTAGCAAATCATAGGCTCAACTCAAGCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGTTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTTTGCAGTAAGCCGAGGTCGCGCCACTGCACTCTAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACTCAAGCATGAACTCAGGCGTCCCAACTCAGATTGGAACTAAGCTTTCCTGAAACTCTGGCCTTTGTCCCTGAGCCATCTGACTGACTTGTTGTGGCCCTGGCAGGTGGGGGGCATGTTTGACACGGTGCAGCGCAGCACCCAGCAGACCACGGAGTGGGCCATGCTCCTCCTGGAGATCATCATCAGCGGCACTGTCGACATGCAGTCCAACAAGTAAAGCATCCCCACCCGCTCCCTGCAGTTTCATACCCAAGAAGCTCCCCCTACTCCCATGCCAGGTGCACCCACTGAGATTGGTGTGGCTGTTACTGTGGACTCCGTGGCCCTGGGCTCCCCATACAGTTTTGGTGCCCTTGGGATGACATATTAAGCACCTCTCCCTGCTTGTGTCCTCTGCTGAGGCCTTTTTCTATCTTCACCTCTTTCTTCTTTGGTTTTCTCTCTGGCTTCCTGTCTCAGTGAGCTCTTCACTACTGTGTTGGACATGCTGAGCGTGCTCATCAATGGGACATTGGCTGCAGACATGTCTAGCATCTCGCAAGGTAGCATGGAGGAAAACAANNNNN
|
benign
| 335,797 |
A mutation at chromosome position 71132767 on chromosome X in gene MED12 (mediator complex subunit 12): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
benign
|
AGTTTAGAGTCAATATGTGAACCCAGACATGTCTGTGCACTTTCCTCTTCACATTGCTTCACACCTTCAGATGACCAGAGAGTGGAAAAATAAAGCCGTTGAGGAAAAGCTAAAGGAATAAGGTCTCTTCAGCCCAGAAGAGATAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACGAAGGGATGGGAAAGATGTGAAATCTTTCCTGAACTATTTTAAAAATTGGAAAGATTTTCAACTAGTTTGGACTATTTAAATGTAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTGTCGCTCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGTCGCCCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCAGCCTCCCTAAATGTAGTCTTTCTTAAAGATGGGGACATAGAGGTCCCTTTCAGACCTCCAGGAGTCTGTGATTCAATGTTGCAGGAGATCAGGAATTGGCCTCAGATTGTTGGGTAGCTGGGGGTAACACGATGATGACTAGCCTGGGTGTGGGGCCTCTATCACAGAACTTGGACCAGTGGACCATGCGCCAGTCTTCCTTGGAGCTGCAGCTCATGATCAAGCAGACCCCTAACAATGTGAGTAGTGCCTGGACCCTCCCTTTCCTGTGCTCACGTTCAGCTCCATGTGTCAGGGAGGCGGTCCACCACAGAAGAACCTAGATCCTACCCTTGGGCTCTTGAGCTGAGAGATAAGAGGGGATGGGAAAATGGTGAACAAGTGGAGCTGATGATAAGGGAAATGGGTTGAGAGTGTTGGAGCTCTGAGCTGTGGGGAAGCTTGGTGGTGGTGGTGGAGCCTGTTTCTCTGGCCATAGATGTAAGGAGGTATGTAAAGGAGAAGACAGTGAGGAATTGGAGAAATATGGAGGTACTAGAGGGCATGATTCCCAACAGAGTTGCGTTCCTATCTCCCCATCAATCTCCGCCAGTGTTGTCCTTCTCCGTCATCTCCGATCTCTCCTACCATCTGCTTTCCTTCACCCTTAGCTACCTATTTTAGCACTTCTGTGCCTTTCATCCTCCCCAGGAGATGAACTCCCTCTTGGAGAACATCGCCAAGGCCACAATCGAGGTTTTCCAACAGTCAGCAGAGACAGGGTCATCTTCTGGAAGTACTGCAAGCAACATGCCCAGCAGCAGCAAGACCAAGCCTGTGCTCAGGTCGGATAGAAACATGTTAGGACCCATCCCCTTAGGAGTTTATCTGCTGGTAGCGTGAGTGATATCAGATGCGTGGAGATGCCAGCATGTCCATCAGGGAAAGGAGAGGATAGATTGTTCCAGCCTTGCCTGGCTCCCCTGTGACCCTGTGTCCTCTGTCTGTTCTCCAGCTCTCTAGAGCGCTCTGGTGTATGGCTGGTGGCCCCCCTCATTGCTAAACTGCCCACCTCAGTCCAGGGACATGTGTTAAAGGCTGCTGGGGAAGAATTGGAGAAGGGTCAGCACCTGGGTTCCTCTTCACGCAAAGAACGTGATCGACAAAAGCAGAAGAGGTAAAGGGGCTTAGGGAGTGGACCAAGATTGAGGGGTAGAAAGGAGAAGAGGCAGGCCCGGGGAAGAATAAAATGGGCCAAGGAGAAGCATCATAGGAAAGTGGAAAATCAGAGGATAAGAGTGGGCATGGCTGAGCAAGAGGCTAGATCTTAAGAGAGTAGTCTGGAGAATGAGGTTGGAAGTTGACTCCCAACCCACAGTCTCCCTTTTCTCCTCTCCTCTTCTCTCCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCTTGTCTCTAGCATGTCCCTATTGAGCCAGCAGCCCTTCTTATCGCTGGTGCTAACATGTCTGAAAGGGCAGGATGAACAACGCGAGGGACTCCTTACCTCCCTCTACAGCCAGGTGCACCAGGTACAGATCTCTGGGCCATGGAGGTGGGCAGGAGGTCAGGGAAGGATGCACCTAAGGGGTTACTCTGTACTTGGAAACTTCAGTACTTTCTGATAAACATATTGGCTGCTGTGGGATGGAAACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGGTAGGGCTGGAAATGCGGAGTGCAAAAGCCTCAGGTTGGGGAGAATGGGGGTAAGGATAGAGGCCCCAGGTTATTCTGAGTCTTGAAGGGTTTTTTTTTTTTTTGGAGTCAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCGTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCTGGCTAATTTTTGTATTTTTCATAGAGATGGGGTTTGACCATGCTGGTCAGGCTGGTCTTGAACTCCTTACCTCAAATGATCCGTCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTGAGTCTTGAAGTATTAACCTTGTTCTCTGAAAGTATGCAGGGACTGAAAGTGGTTAAGGGGGCTGGATCACTGTGGTCATGGTCCAATAGGTTATGTACCCTGGATCCTTGCAGGGCCTCTGCCTCAGTATCCTAGATTCTGACTGGGCCCTAGAAGCACTGGAAACCCACTGTGGAATGTTGAATGGAATCCTGGAAATCATTCTGTCCAATTCCCATCACTTTCTAAGTATGGAAACAGAGGCCTAGAGACGTCAAGAATTCCGTCATTGTCTTGAGATCATGTAGCAAATCATAGGCTCAACTCAAGCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGTTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTTTGCAGTAAGCCGAGGTCGCGCCACTGCACTCTAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACTCAAGCATGAACTCAGGCGTCCCAACTCAGATTGGAACTAAGCTTTCCTGAAACTCTGGCCTTTGTCCCTGAGCCATCTGACTGACTTGTTGTGGCCCTGGCAGGTGGGGGGCATGTTTGACACGGTGCAGCGCAGCACCCAGCAGACCACGGAGTGGGCCATGCTCCTCCTGGAGATCATCATCAGCGGCACTGTCGACATGCAGTCCAACAAGTAAAGCATCCCCACCCGCTCCCTGCAGTTTCATACCCAAGAAGCTCCCCCTACTCCCATGCCAGGTGCACCCACTGAGATTGGTGTGGCTGTTACTGTGGACTCCGTGGCCCTGGGCTCCCCATACAGTTTTGGTGCCCTTGGGATGACATATTAAGCACCTCTCCCTGCTTGTGTCCTCTGCTGAGGCCTTTTTCTATCTTCACCTCTTTCTTCTTTGGTTTTCTCTCTGGCTTCCTGTCTCAGTGAGCTCTTCACTACTGTGTTGGACATGCTGAGCGTGCTCATCAATGGGACATTGGCTGCAGACATGTCTAGCATCTCGCAAGGTAGCATGGAGGAAAACAA
|
AGTTTAGAGTCAATATGTGAACCCAGACATGTCTGTGCACTTTCCTCTTCACATTGCTTCACACCTTCAGATGACCAGAGAGTGGAAAAATAAAGCCGTTGAGGAAAAGCTAAAGGAATAAGGTCTCTTCAGCCCAGAAGAGATAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACGAAGGGATGGGAAAGATGTGAAATCTTTCCTGAACTATTTTAAAAATTGGAAAGATTTTCAACTAGTTTGGACTATTTAAATGTAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTGTCGCTCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGTCGCCCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCAGCCTCCCTAAATGTAGTCTTTCTTAAAGATGGGGACATAGAGGTCCCTTTCAGACCTCCAGGAGTCTGTGATTCAATGTTGCAGGAGATCAGGAATTGGCCTCAGATTGTTGGGTAGCTGGGGGTAACACGATGATGACTAGCCTGGGTGTGGGGCCTCTATCACAGAACTTGGACCAGTGGACCATGCGCCAGTCTTCCTTGGAGCTGCAGCTCATGATCAAGCAGACCCCTAACAATGTGAGTAGTGCCTGGACCCTCCCTTTCCTGTGCTCACGTTCAGCTCCATGTGTCAGGGAGGCGGTCCACCACAGAAGAACCTAGATCCTACCCTTGGGCTCTTGAGCTGAGAGATAAGAGGGGATGGGAAAATGGTGAACAAGTGGAGCTGATGATAAGGGAAATGGGTTGAGAGTGTTGGAGCTCTGAGCTGTGGGGAAGCTTGGTGGTGGTGGTGGAGCCTGTTTCTCTGGCCATAGATGTAAGGAGGTATGTAAAGGAGAAGACAGTGAGGAATTGGAGAAATATGGAGGTACTAGAGGGCATGATTCCCAACAGAGTTGCGTTCCTATCTCCCCATCAATCTCCGCCAGTGTTGTCCTTCTCCGTCATCTCCGATCTCTCCTACCATCTGCTTTCCTTCACCCTTAGCTACCTATTTTAGCACTTCTGTGCCTTTCATCCTCCCCAGGAGATGAACTCCCTCTTGGAGAACATCGCCAAGGCCACAATCGAGGTTTTCCAACAGTCAGCAGAGACAGGGTCATCTTCTGGAAGTACTGCAAGCAACATGCCCAGCAGCAGCAAGACCAAGCCTGTGCTCAGGTCGGATAGAAACATGTTAGGACCCATCCCCTTAGGAGTTTATCTGCTGGTAGCGTGAGTGATATCAGATGCGTGGAGATGCCAGCATGTCCATCAGGGAAAGGAGAGGATAGATTGTTCCAGCCTTGCCTGGCTCCCCTGTGACCCTGTGTCCTCTGTCTGTTCTCCAGCTCTCTAGAGCGCTCTGGTGTATGGCTGGTGGCCCCCCTCATTGCTAAACTGCCCACCTCAGTCCAGGGACATGTGTTAAAGGCTGCTGGGGAAGAATTGGAGAAGGGTCAGCACCTGGGTTCCTCTTCACGCAAAGAACGTGATCGACAAAAGCAGAAGAGGTAAAGGGGCTTAGGGAGTGGACCAAGATTGAGGGGTAGAAAGGAGAAGAGGCAGGCCCGGGGAAGAATAAAATGGGCCAAGGAGAAGCATCATAGGAAAGTGGAAAATCAGAGGATAAGAGTGGGCATGGCTGAGCAAGAGGCTAGATCTTAAGAGAGTAGTCTGGAGAATGAGGTTGGAAGTTGACTCCCAACCCACAGTCTCCCTTTTCTCCTCTCCTCTTCTCTCCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCTTGTCTCTAGCATGTCCCTATTGAGCCAGCAGCCCTTCTTATCGCTGGTGCTAACATGTCTGAAAGGGCAGGATGAACAACGCGAGGGACTCCTTACCTCCCTCTACAGCCAGGTGCACCAGGTACAGATCTCTGGGCCATGGAGGTGGGCAGGAGGTCAGGGAAGGATGCACCTAAGGGGTTACTCTGTACTTGGAAACTTCAGTACTTTCTGATAAACATATTGGCTGCTGTGGGATGGAAACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGGTAGGGCTGGAAATGCGGAGTGCAAAAGCCTCAGGTTGGGGAGAATGGGGGTAAGGATAGAGGCCCCAGGTTATTCTGAGTCTTGAAGGGTTTTTTTTTTTTTTGGAGTCAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCGTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCTGGCTAATTTTTGTATTTTTCATAGAGATGGGGTTTGACCATGCTGGTCAGGCTGGTCTTGAACTCCTTACCTCAAATGATCCGTCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTGAGTCTTGAAGTATTAACCTTGTTCTCTGAAAGTATGCAGGGACTGAAAGTGGTTAAGGGGGCTGGATCACTGTGGTCATGGTCCAATAGGTTATGTACCCTGGATCCTTGCAGGGCCTCTGCCTCAGTATCCTAGATTCTGACTGGGCCCTAGAAGCACTGGAAACCCACTGTGGAATGTTGAATGGAATCCTGGAAATCATTCTGTCCAATTCCCATCACTTTCTAAGTATGGAAACAGAGGCCTAGAGACGTCAAGAATTCCGTCATTGTCTTGAGATCATGTAGCAAATCATAGGCTCAACTCAAGCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGTTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTTTGCAGTAAGCCGAGGTCGCGCCACTGCACTCTAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACTCAAGCATGAACTCAGGCGTCCCAACTCAGATTGGAACTAAGCTTTCCTGAAACTCTGGCCTTTGTCCCTGAGCCATCTGACTGACTTGTTGTGGCCCTGGCAGGTGGGGGGCATGTTTGACACGGTGCAGCGCAGCACCCAGCAGACCACGGAGTGGGCCATGCTCCTCCTGGAGATCATCATCAGCGGCACTGTCGACATGCAGTCCAACAAGTAAAGCATCCCCACCCGCTCCCTGCAGTTTCATACCCAAGAAGCTCCCCCTACTCCCATGCCAGGTGCACCCACTGAGATTGGTGTGGCTGTTACTGTGGACTCCGTGGCCCTGGGCTCCCCATACAGTTTTGGTGCCCTTGGGATGACATATTAAGCACCTCTCCCTGCTTGTGTCCTCTGCTGAGGCCTTTTTCTATCTTCACCTCTTTCTTCTTTGGTTTTCTCTCTGGCTTCCTGTCTCAGTGAGCTCTTCACTACTGTGTTGGACATGCTGAGCGTGCTCATCAATGGGACATTGGCTGCAGACATGTCTAGCATCTCGCAAGGTAGCATGGAGGAAAACAANNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
benign
| 335,798 |
Gene MED12 (mediator complex subunit 12) variant at chromosome X, position 71132910—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Cholestasis-pigmentary_retinopathy-cleft_palate_syndrome', 'MED12-related_disorder', 'Nonspecific_Intellectual_Disability']
|
TAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACGAAGGGATGGGAAAGATGTGAAATCTTTCCTGAACTATTTTAAAAATTGGAAAGATTTTCAACTAGTTTGGACTATTTAAATGTAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTGTCGCTCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGTCGCCCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCAGCCTCCCTAAATGTAGTCTTTCTTAAAGATGGGGACATAGAGGTCCCTTTCAGACCTCCAGGAGTCTGTGATTCAATGTTGCAGGAGATCAGGAATTGGCCTCAGATTGTTGGGTAGCTGGGGGTAACACGATGATGACTAGCCTGGGTGTGGGGCCTCTATCACAGAACTTGGACCAGTGGACCATGCGCCAGTCTTCCTTGGAGCTGCAGCTCATGATCAAGCAGACCCCTAACAATGTGAGTAGTGCCTGGACCCTCCCTTTCCTGTGCTCACGTTCAGCTCCATGTGTCAGGGAGGCGGTCCACCACAGAAGAACCTAGATCCTACCCTTGGGCTCTTGAGCTGAGAGATAAGAGGGGATGGGAAAATGGTGAACAAGTGGAGCTGATGATAAGGGAAATGGGTTGAGAGTGTTGGAGCTCTGAGCTGTGGGGAAGCTTGGTGGTGGTGGTGGAGCCTGTTTCTCTGGCCATAGATGTAAGGAGGTATGTAAAGGAGAAGACAGTGAGGAATTGGAGAAATATGGAGGTACTAGAGGGCATGATTCCCAACAGAGTTGCGTTCCTATCTCCCCATCAATCTCCGCCAGTGTTGTCCTTCTCCGTCATCTCCGATCTCTCCTACCATCTGCTTTCCTTCACCCTTAGCTACCTATTTTAGCACTTCTGTGCCTTTCATCCTCCCCAGGAGATGAACTCCCTCTTGGAGAACATCGCCAAGGCCACAATCGAGGTTTTCCAACAGTCAGCAGAGACAGGGTCATCTTCTGGAAGTACTGCAAGCAACATGCCCAGCAGCAGCAAGACCAAGCCTGTGCTCAGGTCGGATAGAAACATGTTAGGACCCATCCCCTTAGGAGTTTATCTGCTGGTAGCGTGAGTGATATCAGATGCGTGGAGATGCCAGCATGTCCATCAGGGAAAGGAGAGGATAGATTGTTCCAGCCTTGCCTGGCTCCCCTGTGACCCTGTGTCCTCTGTCTGTTCTCCAGCTCTCTAGAGCGCTCTGGTGTATGGCTGGTGGCCCCCCTCATTGCTAAACTGCCCACCTCAGTCCAGGGACATGTGTTAAAGGCTGCTGGGGAAGAATTGGAGAAGGGTCAGCACCTGGGTTCCTCTTCACGCAAAGAACGTGATCGACAAAAGCAGAAGAGGTAAAGGGGCTTAGGGAGTGGACCAAGATTGAGGGGTAGAAAGGAGAAGAGGCAGGCCCGGGGAAGAATAAAATGGGCCAAGGAGAAGCATCATAGGAAAGTGGAAAATCAGAGGATAAGAGTGGGCATGGCTGAGCAAGAGGCTAGATCTTAAGAGAGTAGTCTGGAGAATGAGGTTGGAAGTTGACTCCCAACCCACAGTCTCCCTTTTCTCCTCTCCTCTTCTCTCCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCTTGTCTCTAGCATGTCCCTATTGAGCCAGCAGCCCTTCTTATCGCTGGTGCTAACATGTCTGAAAGGGCAGGATGAACAACGCGAGGGACTCCTTACCTCCCTCTACAGCCAGGTGCACCAGGTACAGATCTCTGGGCCATGGAGGTGGGCAGGAGGTCAGGGAAGGATGCACCTAAGGGGTTACTCTGTACTTGGAAACTTCAGTACTTTCTGATAAACATATTGGCTGCTGTGGGATGGAAACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGGTAGGGCTGGAAATGCGGAGTGCAAAAGCCTCAGGTTGGGGAGAATGGGGGTAAGGATAGAGGCCCCAGGTTATTCTGAGTCTTGAAGGGTTTTTTTTTTTTTTGGAGTCAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCGTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCTGGCTAATTTTTGTATTTTTCATAGAGATGGGGTTTGACCATGCTGGTCAGGCTGGTCTTGAACTCCTTACCTCAAATGATCCGTCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTGAGTCTTGAAGTATTAACCTTGTTCTCTGAAAGTATGCAGGGACTGAAAGTGGTTAAGGGGGCTGGATCACTGTGGTCATGGTCCAATAGGTTATGTACCCTGGATCCTTGCAGGGCCTCTGCCTCAGTATCCTAGATTCTGACTGGGCCCTAGAAGCACTGGAAACCCACTGTGGAATGTTGAATGGAATCCTGGAAATCATTCTGTCCAATTCCCATCACTTTCTAAGTATGGAAACAGAGGCCTAGAGACGTCAAGAATTCCGTCATTGTCTTGAGATCATGTAGCAAATCATAGGCTCAACTCAAGCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGTTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTTTGCAGTAAGCCGAGGTCGCGCCACTGCACTCTAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACTCAAGCATGAACTCAGGCGTCCCAACTCAGATTGGAACTAAGCTTTCCTGAAACTCTGGCCTTTGTCCCTGAGCCATCTGACTGACTTGTTGTGGCCCTGGCAGGTGGGGGGCATGTTTGACACGGTGCAGCGCAGCACCCAGCAGACCACGGAGTGGGCCATGCTCCTCCTGGAGATCATCATCAGCGGCACTGTCGACATGCAGTCCAACAAGTAAAGCATCCCCACCCGCTCCCTGCAGTTTCATACCCAAGAAGCTCCCCCTACTCCCATGCCAGGTGCACCCACTGAGATTGGTGTGGCTGTTACTGTGGACTCCGTGGCCCTGGGCTCCCCATACAGTTTTGGTGCCCTTGGGATGACATATTAAGCACCTCTCCCTGCTTGTGTCCTCTGCTGAGGCCTTTTTCTATCTTCACCTCTTTCTTCTTTGGTTTTCTCTCTGGCTTCCTGTCTCAGTGAGCTCTTCACTACTGTGTTGGACATGCTGAGCGTGCTCATCAATGGGACATTGGCTGCAGACATGTCTAGCATCTCGCAAGGTAGCATGGAGGAAAACAAGCGTGCATACATGAACCTGGCGAAGAAGTTGCAGGTAAGCAGAGGAAGCGGGGGCAAGGTTTGCGGTTACTGGAATCTGCTGTCCAGCCTCAGGAACTTGCTTCTGGCTGGAGCCCTCTACCTTTCCTTCTCACGTCTGCCTT
|
TAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACGAAGGGATGGGAAAGATGTGAAATCTTTCCTGAACTATTTTAAAAATTGGAAAGATTTTCAACTAGTTTGGACTATTTAAATGTAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTGTCGCTCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGTCGCCCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCAGCCTCCCTAAATGTAGTCTTTCTTAAAGATGGGGACATAGAGGTCCCTTTCAGACCTCCAGGAGTCTGTGATTCAATGTTGCAGGAGATCAGGAATTGGCCTCAGATTGTTGGGTAGCTGGGGGTAACACGATGATGACTAGCCTGGGTGTGGGGCCTCTATCACAGAACTTGGACCAGTGGACCATGCGCCAGTCTTCCTTGGAGCTGCAGCTCATGATCAAGCAGACCCCTAACAATGTGAGTAGTGCCTGGACCCTCCCTTTCCTGTGCTCACGTTCAGCTCCATGTGTCAGGGAGGCGGTCCACCACAGAAGAACCTAGATCCTACCCTTGGGCTCTTGAGCTGAGAGATAAGAGGGGATGGGAAAATGGTGAACAAGTGGAGCTGATGATAAGGGAAATGGGTTGAGAGTGTTGGAGCTCTGAGCTGTGGGGAAGCTTGGTGGTGGTGGTGGAGCCTGTTTCTCTGGCCATAGATGTAAGGAGGTATGTAAAGGAGAAGACAGTGAGGAATTGGAGAAATATGGAGGTACTAGAGGGCATGATTCCCAACAGAGTTGCGTTCCTATCTCCCCATCAATCTCCGCCAGTGTTGTCCTTCTCCGTCATCTCCGATCTCTCCTACCATCTGCTTTCCTTCACCCTTAGCTACCTATTTTAGCACTTCTGTGCCTTTCATCCTCCCCAGGAGATGAACTCCCTCTTGGAGAACATCGCCAAGGCCACAATCGAGGTTTTCCAACAGTCAGCAGAGACAGGGTCATCTTCTGGAAGTACTGCAAGCAACATGCCCAGCAGCAGCAAGACCAAGCCTGTGCTCAGGTCGGATAGAAACATGTTAGGACCCATCCCCTTAGGAGTTTATCTGCTGGTAGCGTGAGTGATATCAGATGCGTGGAGATGCCAGCATGTCCATCAGGGAAAGGAGAGGATAGATTGTTCCAGCCTTGCCTGGCTCCCCTGTGACCCTGTGTCCTCTGTCTGTTCTCCAGCTCTCTAGAGCGCTCTGGTGTATGGCTGGTGGCCCCCCTCATTGCTAAACTGCCCACCTCAGTCCAGGGACATGTGTTAAAGGCTGCTGGGGAAGAATTGGAGAAGGGTCAGCACCTGGGTTCCTCTTCACGCAAAGAACGTGATCGACAAAAGCAGAAGAGGTAAAGGGGCTTAGGGAGTGGACCAAGATTGAGGGGTAGAAAGGAGAAGAGGCAGGCCCGGGGAAGAATAAAATGGGCCAAGGAGAAGCATCATAGGAAAGTGGAAAATCAGAGGATAAGAGTGGGCATGGCTGAGCAAGAGGCTAGATCTTAAGAGAGTAGTCTGGAGAATGAGGTTGGAAGTTGACTCCCAACCCACAGTCTCCCTTTTCTCCTCTCCTCTTCTCTCCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCTTGTCTCTAGCATGTCCCTATTGAGCCAGCAGCCCTTCTTATCGCTGGTGCTAACATGTCTGAAAGGGCAGGATGAAGGGACTCCTTACCTCCCTCTACAGCCAGGTGCACCAGGTACAGATCTCTGGGCCATGGAGGTGGGCAGGAGGTCAGGGAAGGATGCACCTAAGGGGTTACTCTGTACTTGGAAACTTCAGTACTTTCTGATAAACATATTGGCTGCTGTGGGATGGAAACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGGTAGGGCTGGAAATGCGGAGTGCAAAAGCCTCAGGTTGGGGAGAATGGGGGTAAGGATAGAGGCCCCAGGTTATTCTGAGTCTTGAAGGGTTTTTTTTTTTTTTGGAGTCAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCGTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCTGGCTAATTTTTGTATTTTTCATAGAGATGGGGTTTGACCATGCTGGTCAGGCTGGTCTTGAACTCCTTACCTCAAATGATCCGTCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTGAGTCTTGAAGTATTAACCTTGTTCTCTGAAAGTATGCAGGGACTGAAAGTGGTTAAGGGGGCTGGATCACTGTGGTCATGGTCCAATAGGTTATGTACCCTGGATCCTTGCAGGGCCTCTGCCTCAGTATCCTAGATTCTGACTGGGCCCTAGAAGCACTGGAAACCCACTGTGGAATGTTGAATGGAATCCTGGAAATCATTCTGTCCAATTCCCATCACTTTCTAAGTATGGAAACAGAGGCCTAGAGACGTCAAGAATTCCGTCATTGTCTTGAGATCATGTAGCAAATCATAGGCTCAACTCAAGCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGTTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTTTGCAGTAAGCCGAGGTCGCGCCACTGCACTCTAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACTCAAGCATGAACTCAGGCGTCCCAACTCAGATTGGAACTAAGCTTTCCTGAAACTCTGGCCTTTGTCCCTGAGCCATCTGACTGACTTGTTGTGGCCCTGGCAGGTGGGGGGCATGTTTGACACGGTGCAGCGCAGCACCCAGCAGACCACGGAGTGGGCCATGCTCCTCCTGGAGATCATCATCAGCGGCACTGTCGACATGCAGTCCAACAAGTAAAGCATCCCCACCCGCTCCCTGCAGTTTCATACCCAAGAAGCTCCCCCTACTCCCATGCCAGGTGCACCCACTGAGATTGGTGTGGCTGTTACTGTGGACTCCGTGGCCCTGGGCTCCCCATACAGTTTTGGTGCCCTTGGGATGACATATTAAGCACCTCTCCCTGCTTGTGTCCTCTGCTGAGGCCTTTTTCTATCTTCACCTCTTTCTTCTTTGGTTTTCTCTCTGGCTTCCTGTCTCAGTGAGCTCTTCACTACTGTGTTGGACATGCTGAGCGTGCTCATCAATGGGACATTGGCTGCAGACATGTCTAGCATCTCGCAAGGTAGCATGGAGGAAAACAAGCGTGCATACATGAACCTGGCGAAGAAGTTGCAGGTAAGCAGAGGAAGCGGGGGCAAGGTTTGCGGTTACTGGAATCTGCTGTCCAGCCTCAGGAACTTGCTTCTGGCTGGAGCCCTCTACCTTTCCTTCTCACGTCTGCCTTNNNNNNNN
|
pathogenic
| 335,804 |
Does the chromosome X mutation at position 71137259 within gene MED12 (mediator complex subunit 12) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Cholestasis-pigmentary_retinopathy-cleft_palate_syndrome']
|
GGGCAACAAGATTGCTGGCTTCGATTCCATCTTCAAGAAGGAGGCATGTTCCATTGTCTGCCCGTGTCCCTTGCCTTTTTTCCCCTTTGGGCAAGAACTTTGCCTGCATCAGCTTTGTAGCTCCAACAGACTCATCAGATTCAGGAGCCCATCAGTCTCTGCCGGTGAACACCATCTCTGGGGTTTTGAGCAAATCACTTAACTTTCCTTACATTTCATCTCCATCTTTGAAGTCCCACCCTCTTTCCTTCACCCTGCCCTCACCTTTTAACATACCACCCATTTTTCAATACCCTACCCTCCTCTTTCCTCTGCTCCACCTGCCCCATGTCCTACCCCACCCATCTATCTGGCCGACAGCCTGTATCTCTTTTATTTCTGTGTTTCCCTACACCCACCCATCTCTGCACACTTTTATCTTTTCCCTCTCTGTCAGTTGCGGTATTTGTTGAGTAACCATAATTATTGTGTATAGTTTAAAACCCAAAGTCTAACTCCTTCATATATACATTCTCTTCATCTGTCTTCCTAGTCCATCTGTCTCTTTTCCTCCGTCTCTGTCTCTCTCCCTGTCTGACTCGTTTGCCTTTCTTTGTCTCTCCACCTTTTTGTCTCTCTCTTCCTGTTTCTTTCTCTCTCTGACTCTTTCTCGGCCTGCCTAAAGGCAGAGTCTCTCCCTGCCTTCCTCTCTCTCTTTCTCTGCCTTCCTTTTTCTGTCTTCCTCTGAATGTCAATCCCTCTCCCTCCCCGCTCCCTCTCTGGCTTTCTCCCCAACCCCTTTCTCTCCCGATCTTCTCTCCCCACACGCCCCCCGCCCCGTTAGTTCATCTCCTCTCCTGGTCTGGGCTGGCTTCATCTTGTGCCTCCACACCTCTCCCTGTGCCCCACCCTTCACTCTCTCCCCGCATAACTCTCTTCCGCATGTATATGTGTATCCATGTCTGTCTGTCTGCTTCTTACCATCTCTCCTGAATCTGCCTATGACTTTCTTTCTACCCATTCCTACAAATGCTTGCAGTCTTCTGTTTTCTAAGTCCCAACAGCTTATTGTTTTTCATTTTCTGGAGCAGGGTCTACAGGTTTCCACCAAACAGAAGATCTCGCCCTGGGATCTTTTTGAGGGGTTGAAGCCGTCAGCACCACTCTCTTGGGGCTGGTTTGGAACAGTCCGAGTGGACCGGCGAGTGGCTCGAGGAGAGGAGCAGCAGCGGTTGCTGCTCTACCACACACACCTGAGGCCCCGGCCCCGCGCCTATTACCTGGAGCCACTGCCACTGCCCCCAGAAGATGAGGAGCCGCCTGCTCCTACCCTGCTAGAGCCTGAGAAAAAGGCTCCAGAGCCCCCCAAAACTGACAAACCGGGGGCTGCTCCACCCAGTACTGAGGAACGCAAGAAGAAGTCCACCAAGGGCAAGAAACGCAGCCAGCCAGCTACCAAGACAGAGGTGAGCGCCTCCCCCGTGACAGTTCTCCCACAGCCTCTCACTTCATGACGCTCCGGTTTCTGGTTTGTGGGAGGGGTGGGGGCGCATAAGGAAGGGGTGCCATTAGAATCATAATAAAAATTAACCATATACGAATTCAGCTCCTCTTTACCTCATTCTCCCCCAGCTCCCCGACCCCATTCAGCTACAACCCACTCACCCTCTTCCTCTGCCACTCACACAGGACTATGGAATGGGCCCGGGTCGGAGCGGCCCTTATGGTGTGACAGTGCCTCCGGACCTCCTGCACCACCCAAACCCTGGTTCTATAACACACCTTAACTACAGGCAAGGCTCCATAGGCCTGTACACCCAGAACCAGCCACTACCTGCAGGTGAGTGCCAGCCACTAGGAATGCTGGAGGGACCTACCTGTACACTCCCCCTGCCCAAAGGATGATGCCATTCCCCTGAGGAGCTATGGATGTCAAGGACACTGAGCAAGAGACAGAGGGATGAGGAGCCTAGAGGTCAGCCCACTCTCCTTTTCAGGTGGCCCTCGTGTGGACCCATACCGTCCTGTGCGCTTACCAATGCAGAAGCTGCCCACCCGACCAACTTACCCTGGAGTGCTGCCCACAACCATGACTGGCGTCATGGGTTTAGAACCCTCCTCTTATAAGACCTCTGTGTACCGGCAGCAGCAACCTGCGGTGCCCCAAGGACAGCGCCTTCGCCAACAGCTCCAGGCAAAGATAGTGAGAGGGGCAGTAGGGAGGGCTGTCAGGGAGAGGGGCTTTTGAGGGTCACAGGACGGAGGAGACACTTGGGATCTTCACAAGGACACTCAGGGTGGGAGACACAAGAGATGAGATGGCAGCAAGCATTTCCTGAGTTTGAGTTGTTCTCTTTTCTCCCTTTAGCAGAGTCAGGGCATGTTGGGACAGTCATCTGTCCATCAGATGACTCCCAGCTCTTCCTACGGTTTGCAGACTTCCCAGGTAAGAGCCTGGGATTGTGAGACTAGGGGGATGAGGCAAGCTGCTCTGCATACTCTCGGCCCTGATTCCCTCTCTCCTTCTTCCCTCCAGGGCTATACTCCTTATGTTTCTCATGTGGGATTGCAGCAACACACAGGCCCTGCAGGTACCATGGTGCCCCCCAGCTACTCCAGCCAGCCTTACCAGAGCACCCACCCTTCTACCAATCCTACTCTTGTAGATCCTACCCGCCACCTGCAACAGCGGCCCAGTGGCTATGTGCACCAGCAGGCCCCCACCTATGGACATGGACTGACCTCCACTCAAAGGTACCCAAAGTAGTGGTGAGCTAGGAAGAGATGCAGAGGTATAAGGGAGCATTTGACTTGGGAAAGCCTGTGCCTGAAAGTGGTGGGACTGGTCAGAACTTTCGGAGACATCAAGAATACTTATCTGGCCACATAGCCCATAACCACAGAAGTCTCGAGCTGGAAGGGACCCTGGAGACCAATAGTTTCATGACTACTTCCTTAACAGTTCTTTGAGGCCCAGAGAGGGGAAATTGTTTATCTGACTCAAGGAAAAATCTGGGCTGGGTGTGGTAGCTCACACTGGTAGTCCCAGCACTTGGGGGCCCAAGGTGGGAGAATCAGTTGATTCCAGGAATTCGAGGCCAGCCTGGGCAACATAGGGAGATCCCATCTCTACAAAAAAAATACATATTTTTTTGAAACAGAGTCGCACTCCATTTGCCCAGGCTGGAGTGTCGTGGCATGATCATGGCTCACTGCAGCCTCGACCTCTGAGGCTCAGGTGATCCTCCTACCTCAGCCTCCCAAGTAGCTAGAACTACAGGCACACACCACCACGCCCAGCTAATTTTTTGGATTTTTAGTTGAGATGGGGTTTCGCCATGTTGCCCAGGCTGGTCTTGAACTGAGCCACCACACCTGGCCAAAAAAAAATTTTTTTTTAATTAGACAGGCGTGTTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAAGATTGCTTGAGCTTGGGAGTTTGAGGCTGCAGTGAGCTGTAATCGCACAATGAGCCGAGATTGTGCCACAGCACTCCAGTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGA
|
GGGCAACAAGATTGCTGGCTTCGATTCCATCTTCAAGAAGGAGGCATGTTCCATTGTCTGCCCGTGTCCCTTGCCTTTTTTCCCCTTTGGGCAAGAACTTTGCCTGCATCAGCTTTGTAGCTCCAACAGACTCATCAGATTCAGGAGCCCATCAGTCTCTGCCGGTGAACACCATCTCTGGGGTTTTGAGCAAATCACTTAACTTTCCTTACATTTCATCTCCATCTTTGAAGTCCCACCCTCTTTCCTTCACCCTGCCCTCACCTTTTAACATACCACCCATTTTTCAATACCCTACCCTCCTCTTTCCTCTGCTCCACCTGCCCCATGTCCTACCCCACCCATCTATCTGGCCGACAGCCTGTATCTCTTTTATTTCTGTGTTTCCCTACACCCACCCATCTCTGCACACTTTTATCTTTTCCCTCTCTGTCAGTTGCGGTATTTGTTGAGTAACCATAATTATTGTGTATAGTTTAAAACCCAAAGTCTAACTCCTTCATATATACATTCTCTTCATCTGTCTTCCTAGTCCATCTGTCTCTTTTCCTCCGTCTCTGTCTCTCTCCCTGTCTGACTCGTTTGCCTTTCTTTGTCTCTCCACCTTTTTGTCTCTCTCTTCCTGTTTCTTTCTCTCTCTGACTCTTTCTCGGCCTGCCTAAAGGCAGAGTCTCTCCCTGCCTTCCTCTCTCTCTTTCTCTGCCTTCCTTTTTCTGTCTTCCTCTGAATGTCAATCCCTCTCCCTCCCCGCTCCCTCTCTGGCTTTCTCCCCAACCCCTTTCTCTCCCGATCTTCTCTCCCCACACGCCCCCCGCCCCGTTAGTTCATCTCCTCTCCTGGTCTGGGCTGGCTTCATCTTGTGCCTCCACACCTCTCCCTGTGCCCCACCCTTCACTCTCTCCCCGCATAACTCTCTTCCGCATGTATATGTGTATCCATGTCTGTCTGTCTGCTTCTTACCATCTCTCCTGAATCTGCCTATGACTTTCTTTCTACCCATTCCTACAAATGCTTGCAGTCTTCTGTTTTCTAAGTCCCAACAGCTTATTGTTTTTCATTTTCTGGAGCAGGGTCTACAGGTTTCCACCAAACAGAAGATCTCGCCCTGGGATCTTTTTGAGGGGTTGAAGCCGTCAGCACCACTCTCTTGGGGCTGGTTTGGAACAGTCCGAGTGGACCGGCGAGTGGCTCGAGGAGAGGAGCAGCAGCGGTTGCTGCTCTACCACACACACCTGAGGCCCCGGCCCCGCGCCTATTACCTGGAGCCACTGCCACTGCCCCCAGAAGATGAGGAGCCGCCTGCTCCTACCCTGCTAGAGCCTGAGAAAAAGGCTCCAGAGCCCCCCAAAACTGACAAACCGGGGGCTGCTCCACCCAGTACTGAGGAACGCAAGAAGAAGTCCACCAAGGGCAAGAAACGCAGCCAGCCAGCTACCAAGACAGAGGTGAGCGCCTCCCCCGTGACAGTTCTCCCACAGCCTCTCACTTCATGACGCTCCGGTTTCTGGTTTGTGGGAGGGGTGGGGGCGCATAAGGAAGGGGTGCCATTAGAATCATAATAAAAATTAACCATATACGAATTCAGCTCCTCTTTACCTCATTCTCCCCCAGCTCCCCGACCCCATTCAGCTACAACCCACTCACCCTCTTCCTCTGCCACTCACACAGGACTATGGAATGGGCCCGGGTCGGAGCGGCCCTTATGGTGTGACAGTGCCTCCGGACCTCCTGCACCACCCAAACCCTGGTTCTATAACACACCTTAACTACAGGCAAGGCTCCATAGGCCTGTACACCCAGAACCAGCCACTACCTGCAGGTGAGTGCCAGCCACTAGGAATGCTGGAGGGACCTACCTGTACACTCCCCCTGCCCAAAGGATGATGCCATTCCCCTGAGGAGCTATGGATGTCAAGGACACTGAGCAAGAGACAGAGGGATGAGGAGCCTAGAGGTCAGCCCACTCTCCTTTTCAGGTGGCCCTCGTGTGGACCCATACCGTCCTGTGCGCTTACCAATGCAGAAGCTGCCCACCCGACCAACTTACCCGGAGTGCTGCCCACAACCATGACTGGCGTCATGGGTTTAGAACCCTCCTCTTATAAGACCTCTGTGTACCGGCAGCAGCAACCTGCGGTGCCCCAAGGACAGCGCCTTCGCCAACAGCTCCAGGCAAAGATAGTGAGAGGGGCAGTAGGGAGGGCTGTCAGGGAGAGGGGCTTTTGAGGGTCACAGGACGGAGGAGACACTTGGGATCTTCACAAGGACACTCAGGGTGGGAGACACAAGAGATGAGATGGCAGCAAGCATTTCCTGAGTTTGAGTTGTTCTCTTTTCTCCCTTTAGCAGAGTCAGGGCATGTTGGGACAGTCATCTGTCCATCAGATGACTCCCAGCTCTTCCTACGGTTTGCAGACTTCCCAGGTAAGAGCCTGGGATTGTGAGACTAGGGGGATGAGGCAAGCTGCTCTGCATACTCTCGGCCCTGATTCCCTCTCTCCTTCTTCCCTCCAGGGCTATACTCCTTATGTTTCTCATGTGGGATTGCAGCAACACACAGGCCCTGCAGGTACCATGGTGCCCCCCAGCTACTCCAGCCAGCCTTACCAGAGCACCCACCCTTCTACCAATCCTACTCTTGTAGATCCTACCCGCCACCTGCAACAGCGGCCCAGTGGCTATGTGCACCAGCAGGCCCCCACCTATGGACATGGACTGACCTCCACTCAAAGGTACCCAAAGTAGTGGTGAGCTAGGAAGAGATGCAGAGGTATAAGGGAGCATTTGACTTGGGAAAGCCTGTGCCTGAAAGTGGTGGGACTGGTCAGAACTTTCGGAGACATCAAGAATACTTATCTGGCCACATAGCCCATAACCACAGAAGTCTCGAGCTGGAAGGGACCCTGGAGACCAATAGTTTCATGACTACTTCCTTAACAGTTCTTTGAGGCCCAGAGAGGGGAAATTGTTTATCTGACTCAAGGAAAAATCTGGGCTGGGTGTGGTAGCTCACACTGGTAGTCCCAGCACTTGGGGGCCCAAGGTGGGAGAATCAGTTGATTCCAGGAATTCGAGGCCAGCCTGGGCAACATAGGGAGATCCCATCTCTACAAAAAAAATACATATTTTTTTGAAACAGAGTCGCACTCCATTTGCCCAGGCTGGAGTGTCGTGGCATGATCATGGCTCACTGCAGCCTCGACCTCTGAGGCTCAGGTGATCCTCCTACCTCAGCCTCCCAAGTAGCTAGAACTACAGGCACACACCACCACGCCCAGCTAATTTTTTGGATTTTTAGTTGAGATGGGGTTTCGCCATGTTGCCCAGGCTGGTCTTGAACTGAGCCACCACACCTGGCCAAAAAAAAATTTTTTTTTAATTAGACAGGCGTGTTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAAGATTGCTTGAGCTTGGGAGTTTGAGGCTGCAGTGAGCTGTAATCGCACAATGAGCCGAGATTGTGCCACAGCACTCCAGTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAN
|
pathogenic
| 335,849 |
Evaluate this variant at chromosome X, position 71137791, gene MED12 (mediator complex subunit 12): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['FG_syndrome_1', 'MED12-related_intellectual_disability_syndrome']
|
TCCATCTGTCTCTTTTCCTCCGTCTCTGTCTCTCTCCCTGTCTGACTCGTTTGCCTTTCTTTGTCTCTCCACCTTTTTGTCTCTCTCTTCCTGTTTCTTTCTCTCTCTGACTCTTTCTCGGCCTGCCTAAAGGCAGAGTCTCTCCCTGCCTTCCTCTCTCTCTTTCTCTGCCTTCCTTTTTCTGTCTTCCTCTGAATGTCAATCCCTCTCCCTCCCCGCTCCCTCTCTGGCTTTCTCCCCAACCCCTTTCTCTCCCGATCTTCTCTCCCCACACGCCCCCCGCCCCGTTAGTTCATCTCCTCTCCTGGTCTGGGCTGGCTTCATCTTGTGCCTCCACACCTCTCCCTGTGCCCCACCCTTCACTCTCTCCCCGCATAACTCTCTTCCGCATGTATATGTGTATCCATGTCTGTCTGTCTGCTTCTTACCATCTCTCCTGAATCTGCCTATGACTTTCTTTCTACCCATTCCTACAAATGCTTGCAGTCTTCTGTTTTCTAAGTCCCAACAGCTTATTGTTTTTCATTTTCTGGAGCAGGGTCTACAGGTTTCCACCAAACAGAAGATCTCGCCCTGGGATCTTTTTGAGGGGTTGAAGCCGTCAGCACCACTCTCTTGGGGCTGGTTTGGAACAGTCCGAGTGGACCGGCGAGTGGCTCGAGGAGAGGAGCAGCAGCGGTTGCTGCTCTACCACACACACCTGAGGCCCCGGCCCCGCGCCTATTACCTGGAGCCACTGCCACTGCCCCCAGAAGATGAGGAGCCGCCTGCTCCTACCCTGCTAGAGCCTGAGAAAAAGGCTCCAGAGCCCCCCAAAACTGACAAACCGGGGGCTGCTCCACCCAGTACTGAGGAACGCAAGAAGAAGTCCACCAAGGGCAAGAAACGCAGCCAGCCAGCTACCAAGACAGAGGTGAGCGCCTCCCCCGTGACAGTTCTCCCACAGCCTCTCACTTCATGACGCTCCGGTTTCTGGTTTGTGGGAGGGGTGGGGGCGCATAAGGAAGGGGTGCCATTAGAATCATAATAAAAATTAACCATATACGAATTCAGCTCCTCTTTACCTCATTCTCCCCCAGCTCCCCGACCCCATTCAGCTACAACCCACTCACCCTCTTCCTCTGCCACTCACACAGGACTATGGAATGGGCCCGGGTCGGAGCGGCCCTTATGGTGTGACAGTGCCTCCGGACCTCCTGCACCACCCAAACCCTGGTTCTATAACACACCTTAACTACAGGCAAGGCTCCATAGGCCTGTACACCCAGAACCAGCCACTACCTGCAGGTGAGTGCCAGCCACTAGGAATGCTGGAGGGACCTACCTGTACACTCCCCCTGCCCAAAGGATGATGCCATTCCCCTGAGGAGCTATGGATGTCAAGGACACTGAGCAAGAGACAGAGGGATGAGGAGCCTAGAGGTCAGCCCACTCTCCTTTTCAGGTGGCCCTCGTGTGGACCCATACCGTCCTGTGCGCTTACCAATGCAGAAGCTGCCCACCCGACCAACTTACCCTGGAGTGCTGCCCACAACCATGACTGGCGTCATGGGTTTAGAACCCTCCTCTTATAAGACCTCTGTGTACCGGCAGCAGCAACCTGCGGTGCCCCAAGGACAGCGCCTTCGCCAACAGCTCCAGGCAAAGATAGTGAGAGGGGCAGTAGGGAGGGCTGTCAGGGAGAGGGGCTTTTGAGGGTCACAGGACGGAGGAGACACTTGGGATCTTCACAAGGACACTCAGGGTGGGAGACACAAGAGATGAGATGGCAGCAAGCATTTCCTGAGTTTGAGTTGTTCTCTTTTCTCCCTTTAGCAGAGTCAGGGCATGTTGGGACAGTCATCTGTCCATCAGATGACTCCCAGCTCTTCCTACGGTTTGCAGACTTCCCAGGTAAGAGCCTGGGATTGTGAGACTAGGGGGATGAGGCAAGCTGCTCTGCATACTCTCGGCCCTGATTCCCTCTCTCCTTCTTCCCTCCAGGGCTATACTCCTTATGTTTCTCATGTGGGATTGCAGCAACACACAGGCCCTGCAGGTACCATGGTGCCCCCCAGCTACTCCAGCCAGCCTTACCAGAGCACCCACCCTTCTACCAATCCTACTCTTGTAGATCCTACCCGCCACCTGCAACAGCGGCCCAGTGGCTATGTGCACCAGCAGGCCCCCACCTATGGACATGGACTGACCTCCACTCAAAGGTACCCAAAGTAGTGGTGAGCTAGGAAGAGATGCAGAGGTATAAGGGAGCATTTGACTTGGGAAAGCCTGTGCCTGAAAGTGGTGGGACTGGTCAGAACTTTCGGAGACATCAAGAATACTTATCTGGCCACATAGCCCATAACCACAGAAGTCTCGAGCTGGAAGGGACCCTGGAGACCAATAGTTTCATGACTACTTCCTTAACAGTTCTTTGAGGCCCAGAGAGGGGAAATTGTTTATCTGACTCAAGGAAAAATCTGGGCTGGGTGTGGTAGCTCACACTGGTAGTCCCAGCACTTGGGGGCCCAAGGTGGGAGAATCAGTTGATTCCAGGAATTCGAGGCCAGCCTGGGCAACATAGGGAGATCCCATCTCTACAAAAAAAATACATATTTTTTTGAAACAGAGTCGCACTCCATTTGCCCAGGCTGGAGTGTCGTGGCATGATCATGGCTCACTGCAGCCTCGACCTCTGAGGCTCAGGTGATCCTCCTACCTCAGCCTCCCAAGTAGCTAGAACTACAGGCACACACCACCACGCCCAGCTAATTTTTTGGATTTTTAGTTGAGATGGGGTTTCGCCATGTTGCCCAGGCTGGTCTTGAACTGAGCCACCACACCTGGCCAAAAAAAAATTTTTTTTTAATTAGACAGGCGTGTTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAAGATTGCTTGAGCTTGGGAGTTTGAGGCTGCAGTGAGCTGTAATCGCACAATGAGCCGAGATTGTGCCACAGCACTCCAGTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTG
|
TCCATCTGTCTCTTTTCCTCCGTCTCTGTCTCTCTCCCTGTCTGACTCGTTTGCCTTTCTTTGTCTCTCCACCTTTTTGTCTCTCTCTTCCTGTTTCTTTCTCTCTCTGACTCTTTCTCGGCCTGCCTAAAGGCAGAGTCTCTCCCTGCCTTCCTCTCTCTCTTTCTCTGCCTTCCTTTTTCTGTCTTCCTCTGAATGTCAATCCCTCTCCCTCCCCGCTCCCTCTCTGGCTTTCTCCCCAACCCCTTTCTCTCCCGATCTTCTCTCCCCACACGCCCCCCGCCCCGTTAGTTCATCTCCTCTCCTGGTCTGGGCTGGCTTCATCTTGTGCCTCCACACCTCTCCCTGTGCCCCACCCTTCACTCTCTCCCCGCATAACTCTCTTCCGCATGTATATGTGTATCCATGTCTGTCTGTCTGCTTCTTACCATCTCTCCTGAATCTGCCTATGACTTTCTTTCTACCCATTCCTACAAATGCTTGCAGTCTTCTGTTTTCTAAGTCCCAACAGCTTATTGTTTTTCATTTTCTGGAGCAGGGTCTACAGGTTTCCACCAAACAGAAGATCTCGCCCTGGGATCTTTTTGAGGGGTTGAAGCCGTCAGCACCACTCTCTTGGGGCTGGTTTGGAACAGTCCGAGTGGACCGGCGAGTGGCTCGAGGAGAGGAGCAGCAGCGGTTGCTGCTCTACCACACACACCTGAGGCCCCGGCCCCGCGCCTATTACCTGGAGCCACTGCCACTGCCCCCAGAAGATGAGGAGCCGCCTGCTCCTACCCTGCTAGAGCCTGAGAAAAAGGCTCCAGAGCCCCCCAAAACTGACAAACCGGGGGCTGCTCCACCCAGTACTGAGGAACGCAAGAAGAAGTCCACCAAGGGCAAGAAACGCAGCCAGCCAGCTACCAAGACAGAGGTGAGCGCCTCCCCCGTGACAGTTCTCCCACAGCCTCTCACTTCATGACGCTCCGGTTTCTGGTTTGTGGGAGGGGTGGGGGCGCATAAGGAAGGGGTGCCATTAGAATCATAATAAAAATTAACCATATACGAATTCAGCTCCTCTTTACCTCATTCTCCCCCAGCTCCCCGACCCCATTCAGCTACAACCCACTCACCCTCTTCCTCTGCCACTCACACAGGACTATGGAATGGGCCCGGGTCGGAGCGGCCCTTATGGTGTGACAGTGCCTCCGGACCTCCTGCACCACCCAAACCCTGGTTCTATAACACACCTTAACTACAGGCAAGGCTCCATAGGCCTGTACACCCAGAACCAGCCACTACCTGCAGGTGAGTGCCAGCCACTAGGAATGCTGGAGGGACCTACCTGTACACTCCCCCTGCCCAAAGGATGATGCCATTCCCCTGAGGAGCTATGGATGTCAAGGACACTGAGCAAGAGACAGAGGGATGAGGAGCCTAGAGGTCAGCCCACTCTCCTTTTCAGGTGGCCCTCGTGTGGACCCATACCGTCCTGTGCGCTTACCAATGCAGAAGCTGCCCACCCGACCAACTTACCCTGGAGTGCTGCCCACAACCATGACTGGCGTCATGGGTTTAGAACCCTCCTCTTATAAGACCTCTGTGTACCGGCAGCAGCAACCTGCGGTGCCCCAAGGACAGCGCCTTCGCCAACAGCTCCAGGCAAAGATAGTGAGAGGGGCAGTAGGGAGGGCTGTCAGGGAGAGGGGCTTTTGAGGGTCACAGGACGGAGGAGACACTTGGGATCTTCACAAGGACACTCAGGGTGGGAGACACAAGAGATGAGATGGCAGCAAGCATTTCCTGAGTTTGAGTTGTTCTCTTTTCTCCCTTTAGCAGAGTCAGGGCATGTTGGGACAGTCATCTGTCCATCAGATGACTCCCAGCTCTTCCTACGGTTTGCAGACTTCCCAGGTAAGAGCCTGGGATTGTGAGACTAGGGGGATGAGGCAAGCTGCTCTGCATACTCTCGGCCCTGATTCCCTCTCTCCTTCTTCCCTCCAGGGCTATACTCCTTATGTTTCTCATGTGGGATTGCAGCAACACACAGGCCCTGCAGGTACCATGGTGCCCCCCCAGCTACTCCAGCCAGCCTTACCAGAGCACCCACCCTTCTACCAATCCTACTCTTGTAGATCCTACCCGCCACCTGCAACAGCGGCCCAGTGGCTATGTGCACCAGCAGGCCCCCACCTATGGACATGGACTGACCTCCACTCAAAGGTACCCAAAGTAGTGGTGAGCTAGGAAGAGATGCAGAGGTATAAGGGAGCATTTGACTTGGGAAAGCCTGTGCCTGAAAGTGGTGGGACTGGTCAGAACTTTCGGAGACATCAAGAATACTTATCTGGCCACATAGCCCATAACCACAGAAGTCTCGAGCTGGAAGGGACCCTGGAGACCAATAGTTTCATGACTACTTCCTTAACAGTTCTTTGAGGCCCAGAGAGGGGAAATTGTTTATCTGACTCAAGGAAAAATCTGGGCTGGGTGTGGTAGCTCACACTGGTAGTCCCAGCACTTGGGGGCCCAAGGTGGGAGAATCAGTTGATTCCAGGAATTCGAGGCCAGCCTGGGCAACATAGGGAGATCCCATCTCTACAAAAAAAATACATATTTTTTTGAAACAGAGTCGCACTCCATTTGCCCAGGCTGGAGTGTCGTGGCATGATCATGGCTCACTGCAGCCTCGACCTCTGAGGCTCAGGTGATCCTCCTACCTCAGCCTCCCAAGTAGCTAGAACTACAGGCACACACCACCACGCCCAGCTAATTTTTTGGATTTTTAGTTGAGATGGGGTTTCGCCATGTTGCCCAGGCTGGTCTTGAACTGAGCCACCACACCTGGCCAAAAAAAAATTTTTTTTTAATTAGACAGGCGTGTTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAAGATTGCTTGAGCTTGGGAGTTTGAGGCTGCAGTGAGCTGTAATCGCACAATGAGCCGAGATTGTGCCACAGCACTCCAGTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTT
|
pathogenic
| 335,863 |
Considering the variant on chromosome X, location 71140749, involving gene MED12 (mediator complex subunit 12), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
benign
|
TGAGCCGAGATTGTGCCACAGCACTCCAGTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTT
|
TGAGCCGAGATTGTGCCACAGCACTCCAGTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTNNNNNNNNN
|
benign
| 335,875 |
Clinically, how would you classify the variant at chromosome X, position 71140761, gene MED12 (mediator complex subunit 12): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
benign
|
GTGCCACAGCACTCCAGTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCGAACTCC
|
GTGCCACAGCACTCCAGTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCG
|
benign
| 335,878 |
Gene MED12 (mediator complex subunit 12) variant at chromosome position 71140773 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
benign
|
TCCAGTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCATGAT
|
TCCAGTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAT
|
benign
| 335,880 |
Classify the chromosome X variant at position 71140797 affecting gene MED12 (mediator complex subunit 12) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
benign
|
TGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAGT
|
TGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAA
|
benign
| 335,885 |
Variant in MED12 (mediator complex subunit 12), chromosome X, position 71140797—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
benign
|
TGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAGT
|
TGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAGTNNN
|
benign
| 335,887 |
Mutation at chromosome X, position 71140800, within MED12 (mediator complex subunit 12): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['FG_syndrome_1', 'MED12-related_disorder']
|
CTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAGTGCT
|
CTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAGTGCTN
|
pathogenic
| 335,889 |
For chromosome X, position 71141265, gene MED12 (mediator complex subunit 12): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
benign
|
TCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAGTGCTGGGACTACAAGCGTGAGCCACCGCGCCCGGCCTAAATTTCTTAATTCTAATTGGATTGCTACCCTCTCTTCCTCTTCTTCAACATGGCAACACATTAAGGTATAGGCCCTTAGTCTCTTTTTATTTATTTTTGAGATGGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTTCAGTGGCACAGTCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTATCCTGCCTCAGAGCCTCTCGAGTAGCTGGGATTACAGGCATATGCCACCAGGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCGCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGTCCCCTTAGTCTTTTAAGAAGGGGCAATGAACATTCTCAACTAAATGTTGG
|
TCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAGTGCTGGGACTACAAGCGTGAGCCACCGCGCCCGGCCTAAATTTCTTAATTCTAATTGGATTGCTACCCTCTCTTCCTCTTCTTCAACATGGCAACACATTAAGGTATAGGCCCTTAGTCTCTTTTTATTTATTTTTGAGATGGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTTCAGTGGCACAGTCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTATCCTGCCTCAGAGCCTCTCGAGTAGCTGGGATTACAGGCATATGCCACCAGGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCGCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGTCCCCTTAGTCTTTTAAGAAGGGGCAATGAACATTCTCAACTAAATGTTGGNNNNNN
|
benign
| 335,895 |
Clinical classification of chromosome X, position 71141301, gene MED12 (mediator complex subunit 12): benign or pathogenic? Disease(s) if pathogenic?
|
benign
|
GGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAGTGCTGGGACTACAAGCGTGAGCCACCGCGCCCGGCCTAAATTTCTTAATTCTAATTGGATTGCTACCCTCTCTTCCTCTTCTTCAACATGGCAACACATTAAGGTATAGGCCCTTAGTCTCTTTTTATTTATTTTTGAGATGGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTTCAGTGGCACAGTCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTATCCTGCCTCAGAGCCTCTCGAGTAGCTGGGATTACAGGCATATGCCACCAGGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCGCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGTCCCCTTAGTCTTTTAAGAAGGGGCAATGAACATTCTCAACTAAATGTTGGAGCTTCTTTACAGCTTTCCTCCATGGGGGATATACC
|
GGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAGTGCTGGGACTACAAGCGTGAGCCACCGCGCCCGGCCTAAATTTCTTAATTCTAATTGGATTGCTACCCTCTCTTCCTCTTCTTCAACATGGCAACACATTAAGGTATAGGCCCTTAGTCTCTTTTTATTTATTTTTGAGATGGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTTCAGTGGCACAGTCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTATCCTGCCTCAGAGCCTCTCGAGTAGCTGGGATTACAGGCATATGCCACCAGGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCGCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGTCCCCTTAGTCTTTTAAGAAGGGGCAATGAACATTCTCAACTAAATGTTGGAGCTTCTTTACAGCTTTCCTCCAT
|
benign
| 335,899 |
Is chromosome X, position 71223805, gene GJB1 (gap junction protein beta 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Charcot-Marie-Tooth_Neuropathy_X']
|
CTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGG
|
CTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGC
|
pathogenic
| 335,933 |
Is the chromosome X, position 71224098 variant in GJB1 (gap junction protein beta 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Charcot-Marie-Tooth_Neuropathy_X', 'Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_X-linked_dominant_1', 'Inborn_genetic_diseases']
|
GAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCA
|
GAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCANN
|
pathogenic
| 335,962 |
Is chromosome X, position 71224101, gene GJB1 (gap junction protein beta 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Charcot-Marie-Tooth_Neuropathy_X']
|
GATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCAGCT
|
GATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCAGCTN
|
pathogenic
| 335,964 |
Variant in GJB1 (gap junction protein beta 1), chromosome X, position 71224156—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Charcot-Marie-Tooth_Neuropathy_X', 'Inborn_genetic_diseases']
|
CTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCAGCTTCCTTACCTCCGAACAGGAGAAATTATTTGCCACTCCCTCTCAGAGTATGTGGAC
|
CTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCAGCTTCCTTACCTCCGAACAGGAGAAATTATTTGCCACTCCCTCTCAGAGTATGTGGACN
|
pathogenic
| 335,970 |
Considering the genetic mutation at chromosome X, position 71224229, impacting GJB1 (gap junction protein beta 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Charcot-Marie-Tooth_Neuropathy_X', 'Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_X-linked_dominant_1']
|
AAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCAGCTTCCTTACCTCCGAACAGGAGAAATTATTTGCCACTCCCTCTCAGAGTATGTGGACTCCATGTAGGAAGTGCTGGATATCAGAAAGGGAGAGAAAATCAGACACAATCTCATGTGAATTGTTCTCCCTT
|
AAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCAGCTTCCTTACCTCCGAACAGGAGAAATTATTTGCCACTCCCTCTCAGAGTATGTGGACTCCATGTAGGAAGTGCTGGATATCAGAAAGGGAGAGAAAATCAGACACAATCTCATGTGAATTGTTCTCCCT
|
pathogenic
| 335,983 |
Determine whether the variant at chromosome X, position 71224262, in gene GJB1 (gap junction protein beta 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Charcot-Marie-Tooth_Neuropathy_X', 'Charcot-Marie-Tooth_disease']
|
TTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCAGCTTCCTTACCTCCGAACAGGAGAAATTATTTGCCACTCCCTCTCAGAGTATGTGGACTCCATGTAGGAAGTGCTGGATATCAGAAAGGGAGAGAAAATCAGACACAATCTCATGTGAATTGTTCTCCCTTGAGACAGTTTTTCCTCTTTGGAGAGAAAGCATG
|
TTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCAGCTTCCTTACCTCCGAACAGGAGAAATTATTTGCCACTCCCTCTCAGAGTATGTGGACTCCATGTAGGAAGTGCTGGATATCAGAAAGGGAGAGAAAATCAGACACAATCTCATGTGAATTGTTCTCCCTTGAGACAGTTTTTCCTCTTTGGAGAGAAAGCAT
|
pathogenic
| 335,993 |
Is the genetic variant on chromosome X, position 71224328, gene GJB1 (gap junction protein beta 1), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Charcot-Marie-Tooth_Neuropathy_X', 'Charcot-Marie-Tooth_disease_X-linked_dominant_1']
|
GCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCAGCTTCCTTACCTCCGAACAGGAGAAATTATTTGCCACTCCCTCTCAGAGTATGTGGACTCCATGTAGGAAGTGCTGGATATCAGAAAGGGAGAGAAAATCAGACACAATCTCATGTGAATTGTTCTCCCTTGAGACAGTTTTTCCTCTTTGGAGAGAAAGCATGGAAGTTTTCTTTATTTGAGATTTCTCCTTTAGAAAAAAAAAAAAGGAAGACTGGATGTGGTGGCTC
|
GCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCAGCTTCCTTACCTCCGAACAGGAGAAATTATTTGCCACTCCCTCTCAGAGTATGTGGACTCCATGTAGGAAGTGCTGGATATCAGAAAGGGAGAGAAAATCAGACACAATCTCATGTGAATTGTTCTCCCTTGAGACAGTTTTTCCTCTTTGGAGAGAAAGCATGGAAGTTTTCTTTATTTGAGATTTCTCCTTTAGAAAAAAAAAAAAGGAAGACTGGATGTGGTGGCTCN
|
pathogenic
| 336,001 |
Variant at chromosome position 71224513, chromosome X, gene GJB1 (gap junction protein beta 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Charcot-Marie-Tooth_Neuropathy_X']
|
CCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCAGCTTCCTTACCTCCGAACAGGAGAAATTATTTGCCACTCCCTCTCAGAGTATGTGGACTCCATGTAGGAAGTGCTGGATATCAGAAAGGGAGAGAAAATCAGACACAATCTCATGTGAATTGTTCTCCCTTGAGACAGTTTTTCCTCTTTGGAGAGAAAGCATGGAAGTTTTCTTTATTTGAGATTTCTCCTTTAGAAAAAAAAAAAAGGAAGACTGGATGTGGTGGCTCATGCCTGTAGTCCCAGCACTTTGGAAGGCCAAGGGGAGAGAATCACTTGAGCCCATGAGTTTGAGACCAGTCTGAGCAACATAGAGAGACCCCATCTCTACAAAAAAAATAAAATAAAACAATTAGTCAGGTGTGGTGGCATGTGCCTGTAGTCCCAAGCTATTTCGGATGCTGAGGTGGGAGGA
|
CCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCAGCTTCCTTACCTCCGAACAGGAGAAATTATTTGCCACTCCCTCTCAGAGTATGTGGACTCCATGTAGGAAGTGCTGGATATCAGAAAGGGAGAGAAAATCAGACACAATCTCATGTGAATTGTTCTCCCTTGAGACAGTTTTTCCTCTTTGGAGAGAAAGCATGGAAGTTTTCTTTATTTGAGATTTCTCCTTTAGAAAAAAAAAAAAGGAAGACTGGATGTGGTGGCTCATGCCTGTAGTCCCAGCACTTTGGAAGGCCAAGGGGAGAGAATCACTTGAGCCCATGAGTTTGAGACCAGTCTGAGCAACATAGAGAGACCCCATCTCTACAAAAAAAATAAAATAAAACAATTAGTCAGGTGTGGTGGCATGTGCCTGTAGTCCCAAGCTATTTCGGATGCTGAGGTGGGAGGANN
|
pathogenic
| 336,009 |
Mutation found at chromosome X position 71377717, gene TAF1 (TATA-box binding protein associated factor 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
benign
|
GTTGTGCAGGTTGGAGTGCAGTAGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCATGCCTCAGCCTCCAGAGTAGGGGCTGGAACTCCTGACCTCAAGTGATCCGCTCGCCTTGGTCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCTGCCGAACCCGGGAATCTTAAAGAGTTTCTTAAGTAATTTATGATACAACTGATCTGTATACTGGTATTTGGAAACTACTTGTTTAGATGGCTTTATTTTAAATGAAGTGGTTAAATTAGGAAGGTGCCCTGGAATGTTGATAAATCAGATAGTGTCAACTACCAGATATTCAGAGATTTCAAAGGCTAGTAGAGTCTTCAGTGTTTATCTTACCTATTCCTATAACAGTAACTGTCCTAGGCTTGAAAACTGGGGAAGAGCAGTGTTTTTGACCTCCTGTATTTTGAGGCTTGTATTAACCTAAATTCTTCCTGTTGGAGTTTTAAGCCATTTCTTTTAACAGTCTGCTAAATGTCAGCTGTTAACTTTGTTTTATAGATCTTATTTATGCCAAAGAACCTTAATGTTGTCCCGTGGGCTTAAAAAAATTCTCCAGCTCATGAGTCTCTGAACTAGGACTACCTGAGTGGTATAAAGTATTACATAGTTTTGCTATTGGTCACAACATTGGTTACAATATTGGTTACTTATCAGAAAGTAGGGCCAGGTGTGGTGGCTCACACCTGTAATCCGAGCACTTTGGGAGGTGGAGGCAGATGATTTGAGGTCAGGAGTTCAAGACCAGACTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTTAGCCAGCTGTCGTGGCGCATGACTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGAGAGAGGTTTCAGTGAGCTAAGATCTCACCACTGCACTCCAGCCTGTGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAACAACAAAAAATCGGAAAGTAGTAAATGTAGTAATAGTGTTTGTTTTCTCATCACAACCCTAGGGTACCAGGTACGTGGTGAGTTGGGGGACGATGGGAGATAACGAGTTAGAATGAGTTTTCTGGGTTGCATACTAGTATTATGATTTGGGTGCTTGGGCCTATATCTCCTGGCATTGAGCCATGTGTATAGCCTAAAGTGGGTGTTTGCGGAATTCGAGGAAATATGTTCACAGTTACATGCCAAAGGGGTTTCTCTTCCTTGTTGCAGTGTCTGAAAATGGAGAAGGCATCATCTTGCCCTCCATCATTGCCCCTTCCTCTTTGGCCTCAGAGAAAGTGGACTTCAGTAGTTCCTCTGACTCAGAATCTGAGATGGGACCTCAGGAAGCAACACAGGCAGAATCTGAAGATGGAAAGCTGACCCTTCCATTGGCTGGGATTATGCAGCATGATGCCACCAAGCTGTTGCCAAGTGTCACAGAACTTTTTCCAGAATTTCGACCTGGAAAGGTACATTCTGTGGAGAATGCTCAGATTGCAAACCACTGACCTCTTCCAAATAATGAGTTTTGTTGTTAAGATGCTGAGTATGGAATGGGGTTTCCTTACTCAGTGACATATTATTGGCTACATAAGAGCTCTTCACACTGTATTAGGTCTTTTTTTTAAAGTTGTATGTATTGATAGTAAATGTGATTTATGCTGTTCTCATTGGAAATTTCTCTGTTATCTTAAAAGAACTAGCCCAAATTATTAAGGAACGCTTCTTTACTTTCTTAGACGTTACAAGTCTGAATGCGACACTCCTTTGTTTCTCCCCCACATTTGAAGAGATCTCTCAAGGGAGTTTTCAGGCCCAGATGCTGCTGTTTTCCCATCTGACTTTGAGTCTGTGTCATAGTAATGTATTCTGTGTTCTAGGTGTTACGTTTTCTACGTCTTTTTGGACCAGGGAAGAATGTCCCATCTGTTTGGCGGAGTGCTCGGAGAAAGAGGAAGAAGAAGCACCGTGAGCTGATACAGGAAGAGCAGATCCAGGAGGTGGAGTGCTCAGTAGAATCAGAAGTCAGCCAGAAGTCTTTGTGGAACTACGACTACGCTCCACCACCACCTCCAGAGCAGTGTCTCTCTGATGATGAAGTAGGCAAAATAGAGACCTGAGATTAAGGCCTATGAGAGGAACAAATGAATTCAATGAGTTCTCCCTAATTTATGTCTAAATTGTAAATAATACCATAGCAGATAGAATCTGTGCTAATTTTCAATGAGTAATCATGGGTTCAATCTCAGTGGCTGCCCCTTCCCTATTGTAAAAGAAAAATGTTTGGTGGGGTAGGCGGGGATGAGAGGGGTAGATGGTGATATGCTGCTGAATAAGAAGGTTTGATTGATAGGTGGAATGTGCTATGATACATCTCCATTGTTTACATTCTAACTCCAGGTAAATCATCCTCAGTTTCTCTAAGTTCCCCTCCTGACTGTTAACTCTCTATAGCCTTAGGACATCTGGGATCAGGAAATTCTCCCTGCTCTACTTCTTTCTTCTGTTACAGATCACGATGATGGCTCCTGTGGAGTCCAAATTTTCCCAATCAACTGGAGATATAGATAAAGTGACAGATACCAAACCAAGAGTGGCTGAGTGGCGTTATGGGCCTGCCCGACTGTGGTATGATATGCTGGGTGTCCCTGAAGATGGCAGTGGGTTTGACTATGGCTTCAAACTGAGAAAGACAGAACATGAACCTGTGATAAAATCTAGAATGATAGAGGTGAGCAACACTGGTATGTAAGAAAGGAATCAATGTACTCAGGTCCTATTACTTTTACTAACTTTACTCTTTAATTGGGGAGATACTGGGTGGTAGGGTTTCTTTGGTGGGAGATTGAGGTGTCTCAGCCTTTTATTTGGTATGGTGTATCACCCTGGTAGCTAGGTCCTATTCTAAGGATTCTGTTTGTGAAATGAATGCTGTGCCAGACTAGGAGTGGGAAGAGGCAAATATTCCTCCGTTATCAGGTGGTTGTTTCAAGTAAAGGACCACTTACAATGTGTCTGATGTATCTTTAATGTGGAATTTGGAGTGGAAACCTTGACCAGTGACCAATCAAGGATGTGTTTTTTCTTCCCTACTTACACAGGAATTTAGGAAACTTGAGGAAAACAATGGCACTGATCTTCTGGCTGATGAAAACTTCCTGATGGTGACACAGCTGCATTGGGAGGATGATATCATCTGGGATGGGGAGGATGTCAAACACAAAGGGACAAAACCTCAGCGTGCAAGCCTGGCAGGCTGGCTTCCTTCTAGCATGACTAGGAATGCGATGGCTTACAATGTTCAGCAAGGTGTGCTTCTGTGCCAGCTGTGTCTAGCAGATACTGCCCTTAATCTTAGTCACCATAAGTGGGCTCAGCTGTGATTTTTTTTTTTTTTTTTTTTTTTCGGTGAGACAGAGTTTCGCTCTTGTTGCCCAGGATGGAGTGCAATGGTGCAGTCTCGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGCGGTTCTTCTGCCTCAGCCTCTGGAGTGGCTAGGATTACAGGCGTGCACCACGATGTCTGACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCAGGTCTCGAACTCCCGACCTCAGGTGATCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCTGGCTGTGATGTTCTGAGCTGCCAAGAGATAGTGAAATTTTTAGGATCTGAGGCCTAATTCTAGTCCCTGTAATTTTTATTTTATTTTTATGCTCAACCTGGAGGAAGATAGTCCATGTAATTTTTTGCCCTGTTAAGAAGCTAGGCCAGACTCAGGTTTCTTAAAAACATGTGATAAAGATCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTTGCTCTGTTGCCTGGGCCGGAGTGTAGTGGCGCAATCTCAGCTCACTGCAATCTCTCCCTCCTGGGCTCAGGCGATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGATTACAGGCATGCGCCACCATGCCCA
|
GTTGTGCAGGTTGGAGTGCAGTAGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCATGCCTCAGCCTCCAGAGTAGGGGCTGGAACTCCTGACCTCAAGTGATCCGCTCGCCTTGGTCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCTGCCGAACCCGGGAATCTTAAAGAGTTTCTTAAGTAATTTATGATACAACTGATCTGTATACTGGTATTTGGAAACTACTTGTTTAGATGGCTTTATTTTAAATGAAGTGGTTAAATTAGGAAGGTGCCCTGGAATGTTGATAAATCAGATAGTGTCAACTACCAGATATTCAGAGATTTCAAAGGCTAGTAGAGTCTTCAGTGTTTATCTTACCTATTCCTATAACAGTAACTGTCCTAGGCTTGAAAACTGGGGAAGAGCAGTGTTTTTGACCTCCTGTATTTTGAGGCTTGTATTAACCTAAATTCTTCCTGTTGGAGTTTTAAGCCATTTCTTTTAACAGTCTGCTAAATGTCAGCTGTTAACTTTGTTTTATAGATCTTATTTATGCCAAAGAACCTTAATGTTGTCCCGTGGGCTTAAAAAAATTCTCCAGCTCATGAGTCTCTGAACTAGGACTACCTGAGTGGTATAAAGTATTACATAGTTTTGCTATTGGTCACAACATTGGTTACAATATTGGTTACTTATCAGAAAGTAGGGCCAGGTGTGGTGGCTCACACCTGTAATCCGAGCACTTTGGGAGGTGGAGGCAGATGATTTGAGGTCAGGAGTTCAAGACCAGACTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTTAGCCAGCTGTCGTGGCGCATGACTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGAGAGAGGTTTCAGTGAGCTAAGATCTCACCACTGCACTCCAGCCTGTGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAACAACAAAAAATCGGAAAGTAGTAAATGTAGTAATAGTGTTTGTTTTCTCATCACAACCCTAGGGTACCAGGTACGTGGTGAGTTGGGGGACGATGGGAGATAACGAGTTAGAATGAGTTTTCTGGGTTGCATACTAGTATTATGATTTGGGTGCTTGGGCCTATATCTCCTGGCATTGAGCCATGTGTATAGCCTAAAGTGGGTGTTTGCGGAATTCGAGGAAATATGTTCACAGTTACATGCCAAAGGGGTTTCTCTTCCTTGTTGCAGTGTCTGAAAATGGAGAAGGCATCATCTTGCCCTCCATCATTGCCCCTTCCTCTTTGGCCTCAGAGAAAGTGGACTTCAGTAGTTCCTCTGACTCAGAATCTGAGATGGGACCTCAGGAAGCAACACAGGCAGAATCTGAAGATGGAAAGCTGACCCTTCCATTGGCTGGGATTATGCAGCATGATGCCACCAAGCTGTTGCCAAGTGTCACAGAACTTTTTCCAGAATTTCGACCTGGAAAGGTACATTCTGTGGAGAATGCTCAGATTGCAAACCACTGACCTCTTCCAAATAATGAGTTTTGTTGTTAAGATGCTGAGTATGGAATGGGGTTTCCTTACTCAGTGACATATTATTGGCTACATAAGAGCTCTTCACACTGTATTAGGTCTTTTTTTTAAAGTTGTATGTATTGATAGTAAATGTGATTTATGCTGTTCTCATTGGAAATTTCTCTGTTATCTTAAAAGAACTAGCCCAAATTATTAAGGAACGCTTCTTTACTTTCTTAGACGTTACAAGTCTGAATGCGACACTCCTTTGTTTCTCCCCCACATTTGAAGAGATCTCTCAAGGGAGTTTTCAGGCCCAGATGCTGCTGTTTTCCCATCTGACTTTGAGTCTGTGTCATAGTAATGTATTCTGTGTTCTAGGTGTTACGTTTTCTACGTCTTTTTGGACCAGGGAAGAATGTCCCATCTGTTTGGCGGAGTGCTCGGAGAAAGAGGAAGAAGAAGCACCGTGAGCTGATACAGGAAGAGCAGATCCAGGAGGAGGTGGAGTGCTCAGTAGAATCAGAAGTCAGCCAGAAGTCTTTGTGGAACTACGACTACGCTCCACCACCACCTCCAGAGCAGTGTCTCTCTGATGATGAAGTAGGCAAAATAGAGACCTGAGATTAAGGCCTATGAGAGGAACAAATGAATTCAATGAGTTCTCCCTAATTTATGTCTAAATTGTAAATAATACCATAGCAGATAGAATCTGTGCTAATTTTCAATGAGTAATCATGGGTTCAATCTCAGTGGCTGCCCCTTCCCTATTGTAAAAGAAAAATGTTTGGTGGGGTAGGCGGGGATGAGAGGGGTAGATGGTGATATGCTGCTGAATAAGAAGGTTTGATTGATAGGTGGAATGTGCTATGATACATCTCCATTGTTTACATTCTAACTCCAGGTAAATCATCCTCAGTTTCTCTAAGTTCCCCTCCTGACTGTTAACTCTCTATAGCCTTAGGACATCTGGGATCAGGAAATTCTCCCTGCTCTACTTCTTTCTTCTGTTACAGATCACGATGATGGCTCCTGTGGAGTCCAAATTTTCCCAATCAACTGGAGATATAGATAAAGTGACAGATACCAAACCAAGAGTGGCTGAGTGGCGTTATGGGCCTGCCCGACTGTGGTATGATATGCTGGGTGTCCCTGAAGATGGCAGTGGGTTTGACTATGGCTTCAAACTGAGAAAGACAGAACATGAACCTGTGATAAAATCTAGAATGATAGAGGTGAGCAACACTGGTATGTAAGAAAGGAATCAATGTACTCAGGTCCTATTACTTTTACTAACTTTACTCTTTAATTGGGGAGATACTGGGTGGTAGGGTTTCTTTGGTGGGAGATTGAGGTGTCTCAGCCTTTTATTTGGTATGGTGTATCACCCTGGTAGCTAGGTCCTATTCTAAGGATTCTGTTTGTGAAATGAATGCTGTGCCAGACTAGGAGTGGGAAGAGGCAAATATTCCTCCGTTATCAGGTGGTTGTTTCAAGTAAAGGACCACTTACAATGTGTCTGATGTATCTTTAATGTGGAATTTGGAGTGGAAACCTTGACCAGTGACCAATCAAGGATGTGTTTTTTCTTCCCTACTTACACAGGAATTTAGGAAACTTGAGGAAAACAATGGCACTGATCTTCTGGCTGATGAAAACTTCCTGATGGTGACACAGCTGCATTGGGAGGATGATATCATCTGGGATGGGGAGGATGTCAAACACAAAGGGACAAAACCTCAGCGTGCAAGCCTGGCAGGCTGGCTTCCTTCTAGCATGACTAGGAATGCGATGGCTTACAATGTTCAGCAAGGTGTGCTTCTGTGCCAGCTGTGTCTAGCAGATACTGCCCTTAATCTTAGTCACCATAAGTGGGCTCAGCTGTGATTTTTTTTTTTTTTTTTTTTTTTCGGTGAGACAGAGTTTCGCTCTTGTTGCCCAGGATGGAGTGCAATGGTGCAGTCTCGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGCGGTTCTTCTGCCTCAGCCTCTGGAGTGGCTAGGATTACAGGCGTGCACCACGATGTCTGACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCAGGTCTCGAACTCCCGACCTCAGGTGATCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCTGGCTGTGATGTTCTGAGCTGCCAAGAGATAGTGAAATTTTTAGGATCTGAGGCCTAATTCTAGTCCCTGTAATTTTTATTTTATTTTTATGCTCAACCTGGAGGAAGATAGTCCATGTAATTTTTTGCCCTGTTAAGAAGCTAGGCCAGACTCAGGTTTCTTAAAAACATGTGATAAAGATCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTTGCTCTGTTGCCTGGGCCGGAGTGTAGTGGCGCAATCTCAGCTCACTGCAATCTCTCCCTCCTGGGCTCAGGCGATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGATTACAGGCATGCGCCACCATGC
|
benign
| 336,045 |
Evaluate the clinical significance of the mutation at chromosome X, position 71556945 in gene OGT (O-linked N-acetylglucosamine (GlcNAc) transferase): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
benign
|
AGCAAAGTAAATCCAGACTTTTAAATTTTTTGTTGTTGTCAAAGGAAAGCCTATTTTTTATGTGGGAGTAGAAAACTTCCCAGTGTAAAGACACATTTTATAAAGGTGTGATTTTGGTTTGAGGTTAAAATATAATACAGCATGAATTATGTAATTAATTACAATTACTTGATATATTTTGATATAGTACAGCTTGAATGAGTTGTAACAAACCATCCATTAAGCATGAGTTACATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTATTTACAGAGCTGTGGCAGCTTATCTTCGTGCCCTAAGTTTGAGTCCAAATCACGCAGTGGTGCACGGCAACCTGGCTTGTGTATACTATGAGCAAGGCCTGATAGATCTGGCAATAGACACCTACAGGCGGGCTATCGAACTACAACCACATTTCCCTGATGCTTACTGCAACCTAGCCAATGCTCTCAAAGAGAAGGGCAGTGTAAGGATTTTTACTCATTCTATTTGTTATCTGGTAGGATTAAGAGTCTTTTCTGGCCAGGTGTGGTGGCTCACACTTGTAATGCCAGCACTTCGGGAGGCCGAGATCAGAGGATTGCTTGAGCTTAGGGTTTCGAGACCAGCCTAGGCAACATGACGAAACCCTGTCTCTACAAGAAATACAAAAATTAGCCGGGCATGGTGGCACACACCTGTAGTCCCAGCTCCTTGGGAGGCCGAGGTGGGAGGATCGATTGAGTCCTGGGAGGTTGAGGCTGCAGTGGGCCATGATTGTGCCACAGCACTCCAGCCTGGGCAACAGAGCACGAGACTCTGTCTCAAAAAAATCACAAAAACCAAAAAACAGCAAAAAAGGAAAGTCTTTTGTACAAGTATTGAGATGGTATATTGGTTTACTTTAGAGTTTTGGTTGAGGGTAAGAATACCAAAAAATATCAATTTTCTGTAGCATTACCAGCCATTAGGCTTAATTAAACAATTATTAGAACAGTATCAGTGGAGGCTTTATGATTCTGTACAGTTTTTGAAGACTTTGTTTTGTTTTCTAGGTTGCTGAAGCAGAAGATTGTTATAATACAGCTCTCCGTCTGTGTCCCACCCATGCAGACTCTCTGAATAACCTAGCCAATATCAAACGAGAACAGGGAAACATTGAAGAGGCAGTTCGCTTGTATCGTAAAGCATTAGAAGTATGTGAGGGTGGTGTAGCTGGGCATTTAGCATGATAGTAGAGGGAAAGCAGTTAAGTTTACCATCATCCACCTCTTTTGTAAAAATAGTGGTTGAATCATTTACAAGAGGATTATTCATTGAAGTAACAATTGAGTACCTAAGGTATGATGTGAGGCCCTATGTGACATTCCAGAAAATCCCTGCATTCAGAGTTCATTATTCTGTGGATAAGATCTGTACAAAAAAATTAAACATTAACCCACAGTTCAAGAGAAGTTACTTATAAGTATATAATCTTAGTGCCTGATGGCTGTATGGTAGTGGTTAGTAGATGTGGTAGGAGTTTAGCAGAGAGAGATTTCAGTGGTGTTGGAGTGGTCAGGATAAACTAAGAGGAGAAGAGGTGTACCTCATTATGTTTGAAACAAGAAGAGGTATAAAATAGAGGAAGAGGTAGAATTTGAGAATGAATAGACTTGGAAAAAGTAGAGACAAATTTAGGGGTTTAAATGTACTTGAGCAAAGTTCTTAAGGTTGTGGTGAATTATTACTGCTGCTTTAGCAATTTTTTTAACCTCAGTTCTGATCTTGACTCTTTATAGGTCTTCCCAGAGTTTGCTGCTGCCCATTCAAATTTAGCAAGTGTACTGCAGCAGCAGGGAAAACTGCAGGAAGCTCTGATGCATTATAAGGAGGCTATTCGGTAAGAGACACTAACAGCCTTATTTTTAAAATTATTTTTAATTTTAAAATGTTTGACATTCGGCACATTGCAGATGCTAAAATGGCTTTAAATAACAACGGAATAAGTTAGCATTACAGTGGGTTAAAGATTTTTGTATTGGAGAAATAAAACCTTTGGCTTCTCTTTTAGAATCAGTCCTACCTTTGCTGATGCCTACTCTAATATGGGAAACACTCTAAAGGAGATGCAGGATGTTCAGGGAGCCTTGCAGTGTTATACGCGTGCCATCCAAATTAATCCTGCATTTGCAGATGCACATAGCAATCTGGCTTCCATTCATAAGGTACTACTGTTTATTATAATATGTGCAGTTTAACACCTAAAATTTAACTTTTGGAAATTTTTTACCATCCTGCTTTATTTATTTTCCAGGATTCAGGGAATATTCCAGAAGCCATAGCTTCTTACCGCACGGCTCTGAAACTTAAGCCTGATTTTCCTGATGCTTATTGTAACTTGGCTCATTGCCTGCAGGTAAAGAATAACAGGCCAGTAATTGGCTCTCAGTGTTGTAATAGCTTTTTAATTGTTGTATGCCATAAGAATCCAAGCCTGACTGGAAATAGTATTTTTAATAGGCTATCTGACATTACTTTAGGCCAAAGACATATCAAATATTAAATCCTGGGATAGGACTTTCTGGATAATAACTTGTTTTTGCTTTCTCTAGATTGTCTGTGATTGGACAGACTATGATGAGCGAATGAAGAAGTTGGTCAGTATTGTGGCTGACCAGTTAGAGAAGAATAGGTTGCCTTCTGTGCATCCTCATCATAGTATGCTATATCCTCTTTCTCATGGCTTCAGGAAGGCTATTGCTGAGAGGCACGGCAACCTGTGCTTAGATAAGGTGTGATTCTTTTGTTTTAATCTTTTTGTTGTAAACTAAAACACAAATACAGAAAACTGTAAAAATCAAATCTGTGGCTTAATGAACGATTATAAAGTGAACACCACCCAAGTCGAGAAATAAAACTTTTGTGGGCCACTTCAGAACCCCTTCCATTGTGTCCTGAGTATAACCCCCTGCACTTCATAAGACGGAATCCTTAACTCCTTCACTTAAACACTAATGATAGACTGATGGTACTTTTCTTTAAGTTGAAAGCCATAATTTTTTTTTCTTTTATCTTTTTTTTCTTTTTTTTTTGAGACGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGCGGTGTGATCATGGCTTACTGCAGCCTTGACCTCCCCGAGCTTAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCATGCCACCACACCTAATTTTGTGTTTTTTGTAGAGATGGGGTTTTGCTATGTTGCCCAAGCTGGTCTTGAACCTCTGGGCTCAAGTGATCTGCCCACCTCGCCCGGCCAAAGTGCTGGGATTACGGGTGTGAGCCACCGCGCCTGGCCAGCCATCATGTTTAATGGAGTGCTTGGTATTTTGTATTCACCTTTGAGAATTAGAGCAGTACTTGATCAAGGATTGGATCAAAGGTTGGATAATAGATTGGAGTGCTAGGTGTACTTTTTTTTTTTTTTTGAGACATAGTGTCTCTGTCATCCAGACTGCAGTGCAGTGGTGCCATCTCAGCTCATTGCAACCTCTGTCTCCCAGGTTAAAGTGATGCTCGTGCCTTAGCTTCCCGAGGAGCTAGGATTACAGGCGTGTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATAGGGCTTTGCCATGCTAGGCTGGTCTCGAAATCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCCCCCAGCCATAATTTTGTTTTTAGAAAATGTTTCCCTATAGAATTTTCTAAAATGCGGGAGGAAACCATGCTCTGTCCATACTGCTTCATACCTACAAGTGTTAGATTTGCTCGTACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAACCTTGGCTTACTGCAACCTCCACCTCCCAGGTTTGGGCGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTACAAGCATGTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTAGTAGAGATTGGATTTCACTGTGTTGGCCA
|
AGCAAAGTAAATCCAGACTTTTAAATTTTTTGTTGTTGTCAAAGGAAAGCCTATTTTTTATGTGGGAGTAGAAAACTTCCCAGTGTAAAGACACATTTTATAAAGGTGTGATTTTGGTTTGAGGTTAAAATATAATACAGCATGAATTATGTAATTAATTACAATTACTTGATATATTTTGATATAGTACAGCTTGAATGAGTTGTAACAAACCATCCATTAAGCATGAGTTACATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTATTTACAGAGCTGTGGCAGCTTATCTTCGTGCCCTAAGTTTGAGTCCAAATCACGCAGTGGTGCACGGCAACCTGGCTTGTGTATACTATGAGCAAGGCCTGATAGATCTGGCAATAGACACCTACAGGCGGGCTATCGAACTACAACCACATTTCCCTGATGCTTACTGCAACCTAGCCAATGCTCTCAAAGAGAAGGGCAGTGTAAGGATTTTTACTCATTCTATTTGTTATCTGGTAGGATTAAGAGTCTTTTCTGGCCAGGTGTGGTGGCTCACACTTGTAATGCCAGCACTTCGGGAGGCCGAGATCAGAGGATTGCTTGAGCTTAGGGTTTCGAGACCAGCCTAGGCAACATGACGAAACCCTGTCTCTACAAGAAATACAAAAATTAGCCGGGCATGGTGGCACACACCTGTAGTCCCAGCTCCTTGGGAGGCCGAGGTGGGAGGATCGATTGAGTCCTGGGAGGTTGAGGCTGCAGTGGGCCATGATTGTGCCACAGCACTCCAGCCTGGGCAACAGAGCACGAGACTCTGTCTCAAAAAAATCACAAAAACCAAAAAACAGCAAAAAAGGAAAGTCTTTTGTACAAGTATTGAGATGGTATATTGGTTTACTTTAGAGTTTTGGTTGAGGGTAAGAATACCAAAAAATATCAATTTTCTGTAGCATTACCAGCCATTAGGCTTAATTAAACAATTATTAGAACAGTATCAGTGGAGGCTTTATGATTCTGTACAGTTTTTGAAGACTTTGTTTTGTTTTCTAGGTTGCTGAAGCAGAAGATTGTTATAATACAGCTCTCCGTCTGTGTCCCACCCATGCAGACTCTCTGAATAACCTAGCCAATATCAAACGAGAACAGGGAAACATTGAAGAGGCAGTTCGCTTGTATCGTAAAGCATTAGAAGTATGTGAGGGTGGTGTAGCTGGGCATTTAGCATGATAGTAGAGGGAAAGCAGTTAAGTTTACCATCATCCACCTCTTTTGTAAAAATAGTGGTTGAATCATTTACAAGAGGATTATTCATTGAAGTAACAATTGAGTACCTAAGGTATGATGTGAGGCCCTATGTGACATTCCAGAAAATCCCTGCATTCAGAGTTCATTATTCTGTGGATAAGATCTGTACAAAAAAATTAAACATTAACCCACAGTTCAAGAGAAGTTACTTATAAGTATATAATCTTAGTGCCTGATGGCTGTATGGTAGTGGTTAGTAGATGTGGTAGGAGTTTAGCAGAGAGAGATTTCAGTGGTGTTGGAGTGGTCAGGATAAACTAAGAGGAGAAGAGGTGTACCTCATTATGTTTGAAACAAGAAGAGGTATAAAATAGAGGAAGAGGTAGAATTTGAGAATGAATAGACTTGGAAAAAGTAGAGACAAATTTAGGGGTTTAAATGTACTTGAGCAAAGTTCTTAAGGTTGTGGTGAATTATTACTGCTGCTTTAGCAATTTTTTTAACCTCAGTTCTGATCTTGACTCTTTATAGGTCTTCCCAGAGTTTGCTGCTGCCCATTCAAATTTAGCAAGTGTACTGCAGCAGCAGGGAAAACTGCAGGAAGCTCTGATGCATTATAAGGAGGCTATTCGGTAAGAGACACTAACAGCCTTATTTTTAAAATTATTTTTAATTTTAAAATGTTTGACATTCGGCACATTGCAGATGCTAAAATGGCTTTAAATAACAACGGAATAAGTTAGCATTACAGTGGGTTAAAGATTTTTGTATTGGAGAAATAAAACCTTTGGCTTCTCTTTAGAATCAGTCCTACCTTTGCTGATGCCTACTCTAATATGGGAAACACTCTAAAGGAGATGCAGGATGTTCAGGGAGCCTTGCAGTGTTATACGCGTGCCATCCAAATTAATCCTGCATTTGCAGATGCACATAGCAATCTGGCTTCCATTCATAAGGTACTACTGTTTATTATAATATGTGCAGTTTAACACCTAAAATTTAACTTTTGGAAATTTTTTACCATCCTGCTTTATTTATTTTCCAGGATTCAGGGAATATTCCAGAAGCCATAGCTTCTTACCGCACGGCTCTGAAACTTAAGCCTGATTTTCCTGATGCTTATTGTAACTTGGCTCATTGCCTGCAGGTAAAGAATAACAGGCCAGTAATTGGCTCTCAGTGTTGTAATAGCTTTTTAATTGTTGTATGCCATAAGAATCCAAGCCTGACTGGAAATAGTATTTTTAATAGGCTATCTGACATTACTTTAGGCCAAAGACATATCAAATATTAAATCCTGGGATAGGACTTTCTGGATAATAACTTGTTTTTGCTTTCTCTAGATTGTCTGTGATTGGACAGACTATGATGAGCGAATGAAGAAGTTGGTCAGTATTGTGGCTGACCAGTTAGAGAAGAATAGGTTGCCTTCTGTGCATCCTCATCATAGTATGCTATATCCTCTTTCTCATGGCTTCAGGAAGGCTATTGCTGAGAGGCACGGCAACCTGTGCTTAGATAAGGTGTGATTCTTTTGTTTTAATCTTTTTGTTGTAAACTAAAACACAAATACAGAAAACTGTAAAAATCAAATCTGTGGCTTAATGAACGATTATAAAGTGAACACCACCCAAGTCGAGAAATAAAACTTTTGTGGGCCACTTCAGAACCCCTTCCATTGTGTCCTGAGTATAACCCCCTGCACTTCATAAGACGGAATCCTTAACTCCTTCACTTAAACACTAATGATAGACTGATGGTACTTTTCTTTAAGTTGAAAGCCATAATTTTTTTTTCTTTTATCTTTTTTTTCTTTTTTTTTTGAGACGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGCGGTGTGATCATGGCTTACTGCAGCCTTGACCTCCCCGAGCTTAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCATGCCACCACACCTAATTTTGTGTTTTTTGTAGAGATGGGGTTTTGCTATGTTGCCCAAGCTGGTCTTGAACCTCTGGGCTCAAGTGATCTGCCCACCTCGCCCGGCCAAAGTGCTGGGATTACGGGTGTGAGCCACCGCGCCTGGCCAGCCATCATGTTTAATGGAGTGCTTGGTATTTTGTATTCACCTTTGAGAATTAGAGCAGTACTTGATCAAGGATTGGATCAAAGGTTGGATAATAGATTGGAGTGCTAGGTGTACTTTTTTTTTTTTTTTGAGACATAGTGTCTCTGTCATCCAGACTGCAGTGCAGTGGTGCCATCTCAGCTCATTGCAACCTCTGTCTCCCAGGTTAAAGTGATGCTCGTGCCTTAGCTTCCCGAGGAGCTAGGATTACAGGCGTGTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATAGGGCTTTGCCATGCTAGGCTGGTCTCGAAATCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCCCCCAGCCATAATTTTGTTTTTAGAAAATGTTTCCCTATAGAATTTTCTAAAATGCGGGAGGAAACCATGCTCTGTCCATACTGCTTCATACCTACAAGTGTTAGATTTGCTCGTACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAACCTTGGCTTACTGCAACCTCCACCTCCCAGGTTTGGGCGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTACAAGCATGTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTAGTAGAGATTGGATTTCACTGTGTTGGCCAN
|
benign
| 336,093 |
The chromosome X, position 71563316 genetic variant in gene OGT (O-linked N-acetylglucosamine (GlcNAc) transferase): benign or pathogenic? If pathogenic, indicate disease(s).
|
benign
|
TCTTCATTCATACTGTTCTCTACTGAGATTGTATTCTGTTAAACTCCTTCAAACTCCTATTCGTCTTTGAAGACCTATTTTCAAATACCAATTCTAGGCTGGGTGCTGTGGCTCACGTGTATAATCCTTTGGGAGGCTGAGGTGGAAGGATTGCTTGAGACCATCATGGGCAACATAGTGAGACCCCATCCCTACCAAAAAAAAAAAAAAGATTACAAATTTCAAATACCAATTTCTCTGTGATATGTTGTTATTCATACATTCAATCCAGAAGTGAACTCTCCTTCCTTTGTGTTCTGTTTCTTTAATGCTTTGGGCCCATTTTAATGACAGTCAACCATATTTGTGCCCGAATTAATGTAGTTAATTTGTGTTCTTACCTCTTTTCCATCTGGGAATCTGAATTATGTTAAATGCCATTAAAACTAAATGCCATTAAAACTAAATGTCATTAAAACTAATTGATCTGAGATTATACATAGTGAGTTCTTATTTTGTATTCTGTAGATTCCATGCAATGGAAAAGCAGCTGATCGCATCCATCAGGATGGAATTCATATCCTTGTAAATATGAATGGCTATACTAAGGGCGCTCGAAATGAGCTTTTTGCTCTCAGGCCAGCTCCTATTCAGGTAAACAAATTAACAGTCATCACTTATAACATGTATTTGGCTAAGAATACAGTGAGGTGCTGCTTTTCCTCCCTCTGGTTAACTGATATTTGAAACTGTAGGGCAGACATACTTTTAATTTTTTTAAGTTGTTGAAATGCACAGGACAAAAAGAGTGTAGAGCACAGTGCTTATAGGTACATGTATATAGAGACATGCAATTCATGGTTGGCTATGAACAGTTACTCTGTCTTGCAAATTTGAAGAACATTTTAGCATTTTGAAAGTTAGTCTGAAATACAGGCCGGGTATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCTTAGGCAGGAGGATCTCTTGAAACCAGGAGTTTGAGTCCTGCCTGGGCAACAAAGCAAAACACCCTATCTCTACAAAAAATTAAAAAATTAGCCAGAGTGGTGGTGTGCCTCTGTGATCCCAGCTATTTGGGAGGCTAAGGTGGAAGGATTGCTTAAGCTTAGGAGTTTGAGGCTGCAGTGAACTATCACTATGCCACTGCACTCCAGCCCAGGTGACAGAGTAAGAGTCTCTCTTATAGAACTGCTTCATTGCTTTCGGCTAAAGAAGTCAGCCTTGCTGTGCGTGTGGCAAGTGCCTGTAATCCTGGCTACTCTGGAGGCTGAGGCAGAAGGATTGCTTGAGCCCAGGAGTTTGAGGCTGTAGTGATCTACGATTGCACCACTGTATTCCAGCCTAGGGAACAGAGTGAGATCCTGTCTCTAAAAAAGAGTTAGACCTCCTTGTTTATTTACTTATTTAATTTTGGCACCTTTAGGTTCTTTTTTTAAAAACCACTTTATTGAGGTACAGTTGACATACAAAAAGTTGTACATATTTAATGTATGTGACTTGATGAATTTAGAGGTAAGTGTACTGATAAAAGTTCTTAATCAGTTTTTGATCTGATTTTTTTAAGGCAATGTGGCTGGGATACCCTGGGACGAGTGGTGCGCTTTTCATGGATTATATTATCACTGATCAGGAAACTTCGCCAGCTGAAGTTGCTGAGCAGTATTCCGAGAAATTGGCTTATATGCCCCACACTTTTTTTATTGGTGATCATGCTAATATGTTCCCTCACCTGAAGGTAGGTATGAAACAGTGCTATGGACGAATTTCAAAGAACTGTAGCTTTTTATTTCCTTGCTATTGTCTATGTAAATCCTAAAAGACATGTCTGAAACTATTTTTTCCATTAGAAAAAAGCAGTCATCGATTTTAAGTCCAATGGGCACATTTATGACAATCGGATAGTTCTGAATGGCATCGACCTCAAAGCATTTCTTGATAGTCTACCAGATGTGAAAATTGTCAAGGTCAGAACCTAGTCAGTATTGTCATTGAAATAAAGTTAACTGCATTCACGATCTTTTCCCTAATGATGCATTTTTTTTTCAGATGAAGTGTCCTGATGGAGGAGACAATGCAGATAGCAGTAACACAGCTCTTAATATGCCTGTTATTCCTATGAATACTATTGCAGAAGCAGTTATTGAAATGATTAACCGAGGACAGATTCAAATAACAATTAATGGATTCAGTATTAGCAATGGACTGGCAACTACTCAGGTGAGAAGATAATAATACACCATTATATGTCCCGCCAAGTATGCATTTATTTCCCTTAACCTCATGATAACTCTAGGAGGCAAGTATCATTATCACCATTTTTATGGATGAGGAAATGAGTTTAGTGGAAACGTGCATCTTATATAGGTGTGTCTGATTTTAAAAGTCTCCTGGATTCAGCCAGCAGATTATTACTTACTGAGAAACTGCTGTGTTAATATCTTGTTATTCCCTGCCTGTGGCTTTACTCTCTTACATGATGAACTATGTGTAGATTCCATACAGTTTCTTGCTTCTGTAAACCCATCCTTTCCCTAGCTAAATCCTACTCAAACGTTCAGTTCAGACAGCTCTTCCAGGAATCCATTTCCGTACTTACCGCTAACGTCTCCATCCCTACTTCATTGGTACCTGTCTTTTATACCTCTGTAATGTTTGGAATATATCATTACATACAGCACAACAGATGATAATTCCCTGTGTTTGTATCCTCTACTGAATTGAATTACTGAGCCCATGTCTTAATCACAGTAATGTAGTATGTACTCAATAAATAATATATTGCATGCTTAAATAAGTAGCTCTATCAAGAGAGTGTAAGGCAAAGATCTCTGACCTCTAGAGGTCATAGATGTCCTTGCACACCTGGAATAGTTATATAACAATGTAAGGCAGTACTCAAATGTGTGAGAATTACAAGATGAAACTAATTATGTATGTAGAAGCTCAGAAACGGTGAGGATCAATGTGAAGAGAGACACTCTTGGGAGAAGAGACCATTTGGAGGAGTAATTTAGCCTTGAAGAGTAGATGTGATTTAGAAAAGGACATTTCATTCATGAAGAAAAGAGTGATCAAAAGCTGTTGGAACGTTAATAGGATTTTGAGACCTTTTTTGGTTAGAGCAAGAAGTTTCATAGTGCAGTCTCCCCCAACTTAAGATAATGCTGCAACGGTTTGCCTTTTCTTAAACTTCATATATCATGAATATTTTCTCATGGTTCAGTGACTTTTAATGGTTATACCATTTTGGATCTTATGGATTGAAATATTGGACTCCTTTTGCCTTTAAATATAACCATCATTTTTTTCTTGTTCTAGATCAACAATAAGGCTGCAACTGGAGAGGAGGTTCCCCGTACCATTATTGTAACCACCCGTTCTCAGTACGGGTTACCAGAAGATGCCATCGTATACTGTAACTTTAATCAGTTGTATAAAATTGACCCTTCTACTTTGCAGATGTGGGCAAACGTGAGTATGCAAGTATGTTAGAGACTAATAAAGATTTTGTATCTAGAGCTTCTTGCTGAAGATGGTCCTTCCACTCCCATTTAGGAGCTGTTCTGCTCATTTCTTTTTAAAATTTTTTTTTGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGATGCGGGTGGATCACCTGAGGTCAGGAGCTTGAGACCAGCCTGACCAACATTGCAAAACCCCGTCTCTATTAAAAATACCAAAAAATTAGCCGGACATGGTGGTAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGACTGGGCAACAAGAGCAAACCTCCATCTCAAAAAAATTTTTTTTAAAAATACTTTTTAAAAAATTTATTTTATTTATTTACATGTGACTCAACTGGGTTATGCCCTTTTTTTAAAAAACAGAATCTCACTCTGTTGTTCGGGCTGCAGTGTAGTGGTGTGATCTTGGCTCATGGCAACCTTTGCATCCCAGGTTCGAGTTATTCTTGTGCCTCAGCCTTCCAAGTAGCTGGGA
|
TCTTCATTCATACTGTTCTCTACTGAGATTGTATTCTGTTAAACTCCTTCAAACTCCTATTCGTCTTTGAAGACCTATTTTCAAATACCAATTCTAGGCTGGGTGCTGTGGCTCACGTGTATAATCCTTTGGGAGGCTGAGGTGGAAGGATTGCTTGAGACCATCATGGGCAACATAGTGAGACCCCATCCCTACCAAAAAAAAAAAAAAGATTACAAATTTCAAATACCAATTTCTCTGTGATATGTTGTTATTCATACATTCAATCCAGAAGTGAACTCTCCTTCCTTTGTGTTCTGTTTCTTTAATGCTTTGGGCCCATTTTAATGACAGTCAACCATATTTGTGCCCGAATTAATGTAGTTAATTTGTGTTCTTACCTCTTTTCCATCTGGGAATCTGAATTATGTTAAATGCCATTAAAACTAAATGCCATTAAAACTAAATGTCATTAAAACTAATTGATCTGAGATTATACATAGTGAGTTCTTATTTTGTATTCTGTAGATTCCATGCAATGGAAAAGCAGCTGATCGCATCCATCAGGATGGAATTCATATCCTTGTAAATATGAATGGCTATACTAAGGGCGCTCGAAATGAGCTTTTTGCTCTCAGGCCAGCTCCTATTCAGGTAAACAAATTAACAGTCATCACTTATAACATGTATTTGGCTAAGAATACAGTGAGGTGCTGCTTTTCCTCCCTCTGGTTAACTGATATTTGAAACTGTAGGGCAGACATACTTTTAATTTTTTTAAGTTGTTGAAATGCACAGGACAAAAAGAGTGTAGAGCACAGTGCTTATAGGTACATGTATATAGAGACATGCAATTCATGGTTGGCTATGAACAGTTACTCTGTCTTGCAAATTTGAAGAACATTTTAGCATTTTGAAAGTTAGTCTGAAATACAGGCCGGGTATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCTTAGGCAGGAGGATCTCTTGAAACCAGGAGTTTGAGTCCTGCCTGGGCAACAAAGCAAAACACCCTATCTCTACAAAAAATTAAAAAATTAGCCAGAGTGGTGGTGTGCCTCTGTGATCCCAGCTATTTGGGAGGCTAAGGTGGAAGGATTGCTTAAGCTTAGGAGTTTGAGGCTGCAGTGAACTATCACTATGCCACTGCACTCCAGCCCAGGTGACAGAGTAAGAGTCTCTCTTATAGAACTGCTTCATTGCTTTCGGCTAAAGAAGTCAGCCTTGCTGTGCGTGTGGCAAGTGCCTGTAATCCTGGCTACTCTGGAGGCTGAGGCAGAAGGATTGCTTGAGCCCAGGAGTTTGAGGCTGTAGTGATCTACGATTGCACCACTGTATTCCAGCCTAGGGAACAGAGTGAGATCCTGTCTCTAAAAAAGAGTTAGACCTCCTTGTTTATTTACTTATTTAATTTTGGCACCTTTAGGTTCTTTTTTTAAAAACCACTTTATTGAGGTACAGTTGACATACAAAAAGTTGTACATATTTAATGTATGTGACTTGATGAATTTAGAGGTAAGTGTACTGATAAAAGTTCTTAATCAGTTTTTGATCTGATTTTTTTAAGGCAATGTGGCTGGGATACCCTGGGACGAGTGGTGCGCTTTTCATGGATTATATTATCACTGATCAGGAAACTTCGCCAGCTGAAGTTGCTGAGCAGTATTCCGAGAAATTGGCTTATATGCCCCACACTTTTTTTATTGGTGATCATGCTAATATGTTCCCTCACCTGAAGGTAGGTATGAAACAGTGCTATGGACGAATTTCAAAGAACTGTAGCTTTTTATTTCCTTGCTATTGTCTATGTAAATCCTAAAAGACATGTCTGAAACTATTTTTTCCATTAGAAAAAAGCAGTCATCGATTTTAAGTCCAATGGGCACATTTATGACAATCGGATAGTTCTGAATGGCATCGACCTCAAAGCATTTCTTGATAGTCTACCAGATGTGAAAATTGTCAAGGTCAGAACCTAGTCAGTATTGTCATTGAAATAAAGTTAACTGCATTCACGATCTTTTCCCTAATGATGCATTTTTTTTCAGATGAAGTGTCCTGATGGAGGAGACAATGCAGATAGCAGTAACACAGCTCTTAATATGCCTGTTATTCCTATGAATACTATTGCAGAAGCAGTTATTGAAATGATTAACCGAGGACAGATTCAAATAACAATTAATGGATTCAGTATTAGCAATGGACTGGCAACTACTCAGGTGAGAAGATAATAATACACCATTATATGTCCCGCCAAGTATGCATTTATTTCCCTTAACCTCATGATAACTCTAGGAGGCAAGTATCATTATCACCATTTTTATGGATGAGGAAATGAGTTTAGTGGAAACGTGCATCTTATATAGGTGTGTCTGATTTTAAAAGTCTCCTGGATTCAGCCAGCAGATTATTACTTACTGAGAAACTGCTGTGTTAATATCTTGTTATTCCCTGCCTGTGGCTTTACTCTCTTACATGATGAACTATGTGTAGATTCCATACAGTTTCTTGCTTCTGTAAACCCATCCTTTCCCTAGCTAAATCCTACTCAAACGTTCAGTTCAGACAGCTCTTCCAGGAATCCATTTCCGTACTTACCGCTAACGTCTCCATCCCTACTTCATTGGTACCTGTCTTTTATACCTCTGTAATGTTTGGAATATATCATTACATACAGCACAACAGATGATAATTCCCTGTGTTTGTATCCTCTACTGAATTGAATTACTGAGCCCATGTCTTAATCACAGTAATGTAGTATGTACTCAATAAATAATATATTGCATGCTTAAATAAGTAGCTCTATCAAGAGAGTGTAAGGCAAAGATCTCTGACCTCTAGAGGTCATAGATGTCCTTGCACACCTGGAATAGTTATATAACAATGTAAGGCAGTACTCAAATGTGTGAGAATTACAAGATGAAACTAATTATGTATGTAGAAGCTCAGAAACGGTGAGGATCAATGTGAAGAGAGACACTCTTGGGAGAAGAGACCATTTGGAGGAGTAATTTAGCCTTGAAGAGTAGATGTGATTTAGAAAAGGACATTTCATTCATGAAGAAAAGAGTGATCAAAAGCTGTTGGAACGTTAATAGGATTTTGAGACCTTTTTTGGTTAGAGCAAGAAGTTTCATAGTGCAGTCTCCCCCAACTTAAGATAATGCTGCAACGGTTTGCCTTTTCTTAAACTTCATATATCATGAATATTTTCTCATGGTTCAGTGACTTTTAATGGTTATACCATTTTGGATCTTATGGATTGAAATATTGGACTCCTTTTGCCTTTAAATATAACCATCATTTTTTTCTTGTTCTAGATCAACAATAAGGCTGCAACTGGAGAGGAGGTTCCCCGTACCATTATTGTAACCACCCGTTCTCAGTACGGGTTACCAGAAGATGCCATCGTATACTGTAACTTTAATCAGTTGTATAAAATTGACCCTTCTACTTTGCAGATGTGGGCAAACGTGAGTATGCAAGTATGTTAGAGACTAATAAAGATTTTGTATCTAGAGCTTCTTGCTGAAGATGGTCCTTCCACTCCCATTTAGGAGCTGTTCTGCTCATTTCTTTTTAAAATTTTTTTTTGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGATGCGGGTGGATCACCTGAGGTCAGGAGCTTGAGACCAGCCTGACCAACATTGCAAAACCCCGTCTCTATTAAAAATACCAAAAAATTAGCCGGACATGGTGGTAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGACTGGGCAACAAGAGCAAACCTCCATCTCAAAAAAATTTTTTTTAAAAATACTTTTTAAAAAATTTATTTTATTTATTTACATGTGACTCAACTGGGTTATGCCCTTTTTTTAAAAAACAGAATCTCACTCTGTTGTTCGGGCTGCAGTGTAGTGGTGTGATCTTGGCTCATGGCAACCTTTGCATCCCAGGTTCGAGTTATTCTTGTGCCTCAGCCTTCCAAGTAGCTGGGAN
|
benign
| 336,096 |
Does the variant impacting HDAC8 (histone deacetylase 8) on chromosome X, position 72572083, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Cornelia_de_Lange_syndrome_5']
|
TTACGATGAATGAATACGACTATACAGGCTACTACTATCACCAAGGTAGCTGGAAGAAATCCTGTGGTTTGGCCTCAAAAGTGAAATACATAGCCAAGACCCAAGAATTCTTGCTTCTTCTTAAAGAAGACAAATCTATACCACCAGAGGTGAAAAATCTACCCATTAAAATAAAAATTTTGTAATATCTCGGACCGTATTTCCCAGTCCTAAAAGCTCCCTCTTCTAGTACCCTTCCATTTATTTTGGTAAATGTTAAAAAACACTTACTGAAAACCTCCCTATTTAACAGTAAGCAAACTGGACAGTTTTGCTTTGCTTTGATATCTTGTTTGTCATAAAATAATTTTTTGAAATGTTAAATAACTTTAATGGAAGGCATATAGTTACTATGTTAACCAAACCATATGGGTTAAAAAATGGCTTAAAATGGGTGTGGTGACACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCCGAGATCGCGCCACTGCACTCCAGCCTGCGCGACAAAGCAAGACTCCATCAAAAAAAAAAAAAAAAGGCTTAAAAATTCCCTTTAAAAGGTACAAAATGATTTTGTTAATAATAAGGATAAAATCTGAAAGCCTATTATTACACTACCTTCTGGGAGATAAATGAAGCATAGCACACTAGTTGGTATGAGCACTCACCTATTTGGCCAGAAATTGTCATAAGTAATCCTATATGTGGCAGGGTTATATTTGCTCTTATAACGACATCAAATACAGAAATGGCAATAAACAGCAAGTTCATGTTTTTGGAAGAAACAGTTAGCTCTCTCTTGAGTTCTGGCGCAGTCTTGGCAGTTTTCTTTGGTCTTTTTTGTTTGTTTGTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGGGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCTCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGAGCTCATGATCCGCCTGCCTCAGCCTCCCAAAGTACTAGGATTACAGGCGTGAGCCACCACGCCCGGCCTTCTTTGGTCTTGATCTGTCTCCAGCCTCACCCATTAAAGTTTGGTGCTGGTGGTGGGTTGTCTAAAAGTCTTAGGTTGAACTCACACCCTCAAATCTGGCTTAGAATGAAACGAAATCAAAAGAAAAATGGAACACCTCCTAGCTGAACACCTTTTTGTATGAGACAGGTTTTAATACCCAAATGTACTCAAAATCTCCACAATGCACTGCACCTACCCCTGGGATACTTAACCAAGCAATCGAGCTGTATTTCTAATGAACCTTAACTGCTTCCTGCACTTTCCACTCCCCTGTCCCAAGTTTTCTTTTCTTTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGCAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTTCACCTCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTACCACGTCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTGGTCTCAAATTACTGACCTCAGGCGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATGCTCTCGGCCCCCCAAGTTTTCTTAATTCTTCAAGAGCTTTCTTGGGATTACAGGCAGATTACAAACACTGTGAATACTTTCACAGAAAGCTAAAATAATTTTTTCAAAAGACCATTCTTTTCCTTGCCCCACTGTGAAGCAGGATATTAAGGCTACGAACACCTAGCTTCAGGGCTATGTTCAAGAAAGACAACTTACCTCATCTGCTTATGCAGTGCATATGCTTCAATCAAAGAATGCACCATACTGGCCTAAAAACATCAGCGTAAAAAAAAAAAAAGAAAAGCAGAAATAGTCTCTTTAAAGTTTAATTCAGCAAAATCCCCGTCAATCTCACCATCCTGAACAAAGGAACGGATTAATTTTGTTTCAACTGGCTTCCCTTCTGTTAACAGTTACAATACACTTTAGACAATACAGATACAAAGTATCAAAATCACTAAGGTGAAAGCTACCGGGCCTTAGGCAGGTGATGGAACACCTTCCCCCTGCAGCTTGTTTTCCCACGACTTCAGCGGTCCCCTATGAGTGGAAACTGCGTCCTCTCCCCTCCTCCGTACCCCCTCCCCCACTCCTACCTGTCCATTGGACGTCCCGAAGAGACATGCTGCGCTCTCAGAAACGATATGAGAACACTTCCTTCTGATACAGCTTTAGGTATCTGATACAGCTACTCGAAATTTCTGAAGATTTCCCCCAGCCCAGTGTCCTCTCCGCTTCCTAACGCTCTTTCGTCCACCGCCCCCACCCCCACCCCCAAAGCCCATGGTCTTTCATCCCGACTTCCCTTACCCGTTTGGGGATCTTGGCCAGGGAGTCACACATACTGACATACTCGGGACTATAGATATAAACCGGGACCAGCGACTGCCCACTGTCCGCCGGTTCCTCCGGCTCCTCCATCTTCCGCTTAAAACCGTTCCGCAGCCACCTTCCAGATCTGGCTTTTTTCGGACTCGGCCAGGGTTCCAGTTCCTGCTCCTCTGATCGGCCGCAGCGGTGCTCCCTGGTCAACATTCCCTCCTATTCTTGAGATCGCCGGAGACACTATCACCGCTCCCCATCCTATTGAAGGAATGGATGGGACTTCCCAGACCAGACTCCCCTCATTTAGTGACCACAGTTCAAGGAAAAGGGTTTGGCAGATGTAAAAGTCCAAATAGCTGTCAATTAGGATCGATTGTTTTTATGGCACAAATAAGTAGGGTCAAAACTAACCATCCTTGTTGCCCTACGGGGCCATTTGAGATGAAGTCAGACCAGTTTCACAGCATGCTGGGAGATGTAGTTTCCGGAGGTTTGAGCAACGGAAGAGCCGGGGCTAAACACTAAAATAACCGCGATTTTTAGTTTCAGCGCTAAGACCAAAAAAAAAAAAAAAAAAAAGTAGCCTCAACTCTTTATGAATTGTTTCAATCTGCAAACACATCCATTTCATCCATTTAACCATATAAACACAGATAGAACGTGGCCACCTAGAGCCCCCACCATCCAGCTACATCAGCTGCCTATCCTAAGGATAGGCTTTTTTTTTTTTTTTTTTTTTTTGGTGGGGGCGCTATTTAATGGCACAAATGGTTTGAAAAGTTTACACAGTAAATTCTGTGATGCAATTTTATAGTTCATTTCTTTTCATCATTAACTATCCATGTCCACATGAGAGTTAACAATCTCAATAATTTACTCTGGCAAATCTGATAGTACTTTCCCAAGAGACTGGCTGGTGCAGTGGAAATTGCTTGGTAGATTCCGATCAAGCAATGATGTCAAATGTAACTCCTTGAACATTCATGTGGTAGGAAGGTTGCAAGCAGTGGTGTTTGGAAACTGCAGCTCTTCTCCTCCTACCTCCTCTTGTTTCTGCAGCTAAACATAGATTAGGGAAATATTTTAGGTTTGGTGTGAGGGTCCAGTTTAAGACTATCTGAGGCGGTTTTAGAATTACCATCAGCATTTGGAGGTTCCTGGAGGCCCCTATGATCTGATACAAGCTGGCCAGTGCTCAGGATCTTAATTCTCATGGCAACCTAAACTGACTGACTAACACCACTGGGACAACCTAATATCCTTACTATATTTAAAGTCTGGCTTGCTTTTTAGACTTTAAACATTTATTGAAGATTGTGACATGCACATTGGCCATATTATCTCATTTCATCCTTGCAACAGTCCTATAAAGGAGGTTGCAATACACCCATTTTACAGATGCAGTTTAGAGAAACAACATTCAAAATCACATACTTAACAAGCAGATAAGTAGGAATTCAAAATT
|
TTACGATGAATGAATACGACTATACAGGCTACTACTATCACCAAGGTAGCTGGAAGAAATCCTGTGGTTTGGCCTCAAAAGTGAAATACATAGCCAAGACCCAAGAATTCTTGCTTCTTCTTAAAGAAGACAAATCTATACCACCAGAGGTGAAAAATCTACCCATTAAAATAAAAATTTTGTAATATCTCGGACCGTATTTCCCAGTCCTAAAAGCTCCCTCTTCTAGTACCCTTCCATTTATTTTGGTAAATGTTAAAAAACACTTACTGAAAACCTCCCTATTTAACAGTAAGCAAACTGGACAGTTTTGCTTTGCTTTGATATCTTGTTTGTCATAAAATAATTTTTTGAAATGTTAAATAACTTTAATGGAAGGCATATAGTTACTATGTTAACCAAACCATATGGGTTAAAAAATGGCTTAAAATGGGTGTGGTGACACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCCGAGATCGCGCCACTGCACTCCAGCCTGCGCGACAAAGCAAGACTCCATCAAAAAAAAAAAAAAAAGGCTTAAAAATTCCCTTTAAAAGGTACAAAATGATTTTGTTAATAATAAGGATAAAATCTGAAAGCCTATTATTACACTACCTTCTGGGAGATAAATGAAGCATAGCACACTAGTTGGTATGAGCACTCACCTATTTGGCCAGAAATTGTCATAAGTAATCCTATATGTGGCAGGGTTATATTTGCTCTTATAACGACATCAAATACAGAAATGGCAATAAACAGCAAGTTCATGTTTTTGGAAGAAACAGTTAGCTCTCTCTTGAGTTCTGGCGCAGTCTTGGCAGTTTTCTTTGGTCTTTTTTGTTTGTTTGTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGGGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCTCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGAGCTCATGATCCGCCTGCCTCAGCCTCCCAAAGTACTAGGATTACAGGCGTGAGCCACCACGCCCGGCCTTCTTTGGTCTTGATCTGTCTCCAGCCTCACCCATTAAAGTTTGGTGCTGGTGGTGGGTTGTCTAAAAGTCTTAGGTTGAACTCACACCCTCAAATCTGGCTTAGAATGAAACGAAATCAAAAGAAAAATGGAACACCTCCTAGCTGAACACCTTTTTGTATGAGACAGGTTTTAATACCCAAATGTACTCAAAATCTCCACAATGCACTGCACCTACCCCTGGGATACTTAACCAAGCAATCGAGCTGTATTTCTAATGAACCTTAACTGCTTCCTGCACTTTCCACTCCCCTGTCCCAAGTTTTCTTTTCTTTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGCAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTTCACCTCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTACCACGTCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTGGTCTCAAATTACTGACCTCAGGCGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATGCTCTCGGCCCCCCAAGTTTTCTTAATTCTTCAAGAGCTTTCTTGGGATTACAGGCAGATTACAAACACTGTGAATACTTTCACAGAAAGCTAAAATAATTTTTTCAAAAGACCATTCTTTTCCTTGCCCCACTGTGAAGCAGGATATTAAGGCTACGAACACCTAGCTTCAGGGCTATGTTCAAGAAAGACAACTTACCTCATCTGCTTATGCAGTGCATATGCTTCAAAGAATGCACCATACTGGCCTAAAAACATCAGCGTAAAAAAAAAAAAAGAAAAGCAGAAATAGTCTCTTTAAAGTTTAATTCAGCAAAATCCCCGTCAATCTCACCATCCTGAACAAAGGAACGGATTAATTTTGTTTCAACTGGCTTCCCTTCTGTTAACAGTTACAATACACTTTAGACAATACAGATACAAAGTATCAAAATCACTAAGGTGAAAGCTACCGGGCCTTAGGCAGGTGATGGAACACCTTCCCCCTGCAGCTTGTTTTCCCACGACTTCAGCGGTCCCCTATGAGTGGAAACTGCGTCCTCTCCCCTCCTCCGTACCCCCTCCCCCACTCCTACCTGTCCATTGGACGTCCCGAAGAGACATGCTGCGCTCTCAGAAACGATATGAGAACACTTCCTTCTGATACAGCTTTAGGTATCTGATACAGCTACTCGAAATTTCTGAAGATTTCCCCCAGCCCAGTGTCCTCTCCGCTTCCTAACGCTCTTTCGTCCACCGCCCCCACCCCCACCCCCAAAGCCCATGGTCTTTCATCCCGACTTCCCTTACCCGTTTGGGGATCTTGGCCAGGGAGTCACACATACTGACATACTCGGGACTATAGATATAAACCGGGACCAGCGACTGCCCACTGTCCGCCGGTTCCTCCGGCTCCTCCATCTTCCGCTTAAAACCGTTCCGCAGCCACCTTCCAGATCTGGCTTTTTTCGGACTCGGCCAGGGTTCCAGTTCCTGCTCCTCTGATCGGCCGCAGCGGTGCTCCCTGGTCAACATTCCCTCCTATTCTTGAGATCGCCGGAGACACTATCACCGCTCCCCATCCTATTGAAGGAATGGATGGGACTTCCCAGACCAGACTCCCCTCATTTAGTGACCACAGTTCAAGGAAAAGGGTTTGGCAGATGTAAAAGTCCAAATAGCTGTCAATTAGGATCGATTGTTTTTATGGCACAAATAAGTAGGGTCAAAACTAACCATCCTTGTTGCCCTACGGGGCCATTTGAGATGAAGTCAGACCAGTTTCACAGCATGCTGGGAGATGTAGTTTCCGGAGGTTTGAGCAACGGAAGAGCCGGGGCTAAACACTAAAATAACCGCGATTTTTAGTTTCAGCGCTAAGACCAAAAAAAAAAAAAAAAAAAAGTAGCCTCAACTCTTTATGAATTGTTTCAATCTGCAAACACATCCATTTCATCCATTTAACCATATAAACACAGATAGAACGTGGCCACCTAGAGCCCCCACCATCCAGCTACATCAGCTGCCTATCCTAAGGATAGGCTTTTTTTTTTTTTTTTTTTTTTTGGTGGGGGCGCTATTTAATGGCACAAATGGTTTGAAAAGTTTACACAGTAAATTCTGTGATGCAATTTTATAGTTCATTTCTTTTCATCATTAACTATCCATGTCCACATGAGAGTTAACAATCTCAATAATTTACTCTGGCAAATCTGATAGTACTTTCCCAAGAGACTGGCTGGTGCAGTGGAAATTGCTTGGTAGATTCCGATCAAGCAATGATGTCAAATGTAACTCCTTGAACATTCATGTGGTAGGAAGGTTGCAAGCAGTGGTGTTTGGAAACTGCAGCTCTTCTCCTCCTACCTCCTCTTGTTTCTGCAGCTAAACATAGATTAGGGAAATATTTTAGGTTTGGTGTGAGGGTCCAGTTTAAGACTATCTGAGGCGGTTTTAGAATTACCATCAGCATTTGGAGGTTCCTGGAGGCCCCTATGATCTGATACAAGCTGGCCAGTGCTCAGGATCTTAATTCTCATGGCAACCTAAACTGACTGACTAACACCACTGGGACAACCTAATATCCTTACTATATTTAAAGTCTGGCTTGCTTTTTAGACTTTAAACATTTATTGAAGATTGTGACATGCACATTGGCCATATTATCTCATTTCATCCTTGCAACAGTCCTATAAAGGAGGTTGCAATACACCCATTTTACAGATGCAGTTTAGAGAAACAACATTCAAAATCACATACTTAACAAGCAGATAAGTAGGAATTCAAAATTNNNN
|
pathogenic
| 336,138 |
Variant in HDAC8 (histone deacetylase 8), chromosome X, position 72572125—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
benign
|
AAGGTAGCTGGAAGAAATCCTGTGGTTTGGCCTCAAAAGTGAAATACATAGCCAAGACCCAAGAATTCTTGCTTCTTCTTAAAGAAGACAAATCTATACCACCAGAGGTGAAAAATCTACCCATTAAAATAAAAATTTTGTAATATCTCGGACCGTATTTCCCAGTCCTAAAAGCTCCCTCTTCTAGTACCCTTCCATTTATTTTGGTAAATGTTAAAAAACACTTACTGAAAACCTCCCTATTTAACAGTAAGCAAACTGGACAGTTTTGCTTTGCTTTGATATCTTGTTTGTCATAAAATAATTTTTTGAAATGTTAAATAACTTTAATGGAAGGCATATAGTTACTATGTTAACCAAACCATATGGGTTAAAAAATGGCTTAAAATGGGTGTGGTGACACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCCGAGATCGCGCCACTGCACTCCAGCCTGCGCGACAAAGCAAGACTCCATCAAAAAAAAAAAAAAAAGGCTTAAAAATTCCCTTTAAAAGGTACAAAATGATTTTGTTAATAATAAGGATAAAATCTGAAAGCCTATTATTACACTACCTTCTGGGAGATAAATGAAGCATAGCACACTAGTTGGTATGAGCACTCACCTATTTGGCCAGAAATTGTCATAAGTAATCCTATATGTGGCAGGGTTATATTTGCTCTTATAACGACATCAAATACAGAAATGGCAATAAACAGCAAGTTCATGTTTTTGGAAGAAACAGTTAGCTCTCTCTTGAGTTCTGGCGCAGTCTTGGCAGTTTTCTTTGGTCTTTTTTGTTTGTTTGTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGGGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCTCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGAGCTCATGATCCGCCTGCCTCAGCCTCCCAAAGTACTAGGATTACAGGCGTGAGCCACCACGCCCGGCCTTCTTTGGTCTTGATCTGTCTCCAGCCTCACCCATTAAAGTTTGGTGCTGGTGGTGGGTTGTCTAAAAGTCTTAGGTTGAACTCACACCCTCAAATCTGGCTTAGAATGAAACGAAATCAAAAGAAAAATGGAACACCTCCTAGCTGAACACCTTTTTGTATGAGACAGGTTTTAATACCCAAATGTACTCAAAATCTCCACAATGCACTGCACCTACCCCTGGGATACTTAACCAAGCAATCGAGCTGTATTTCTAATGAACCTTAACTGCTTCCTGCACTTTCCACTCCCCTGTCCCAAGTTTTCTTTTCTTTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGCAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTTCACCTCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTACCACGTCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTGGTCTCAAATTACTGACCTCAGGCGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATGCTCTCGGCCCCCCAAGTTTTCTTAATTCTTCAAGAGCTTTCTTGGGATTACAGGCAGATTACAAACACTGTGAATACTTTCACAGAAAGCTAAAATAATTTTTTCAAAAGACCATTCTTTTCCTTGCCCCACTGTGAAGCAGGATATTAAGGCTACGAACACCTAGCTTCAGGGCTATGTTCAAGAAAGACAACTTACCTCATCTGCTTATGCAGTGCATATGCTTCAATCAAAGAATGCACCATACTGGCCTAAAAACATCAGCGTAAAAAAAAAAAAAGAAAAGCAGAAATAGTCTCTTTAAAGTTTAATTCAGCAAAATCCCCGTCAATCTCACCATCCTGAACAAAGGAACGGATTAATTTTGTTTCAACTGGCTTCCCTTCTGTTAACAGTTACAATACACTTTAGACAATACAGATACAAAGTATCAAAATCACTAAGGTGAAAGCTACCGGGCCTTAGGCAGGTGATGGAACACCTTCCCCCTGCAGCTTGTTTTCCCACGACTTCAGCGGTCCCCTATGAGTGGAAACTGCGTCCTCTCCCCTCCTCCGTACCCCCTCCCCCACTCCTACCTGTCCATTGGACGTCCCGAAGAGACATGCTGCGCTCTCAGAAACGATATGAGAACACTTCCTTCTGATACAGCTTTAGGTATCTGATACAGCTACTCGAAATTTCTGAAGATTTCCCCCAGCCCAGTGTCCTCTCCGCTTCCTAACGCTCTTTCGTCCACCGCCCCCACCCCCACCCCCAAAGCCCATGGTCTTTCATCCCGACTTCCCTTACCCGTTTGGGGATCTTGGCCAGGGAGTCACACATACTGACATACTCGGGACTATAGATATAAACCGGGACCAGCGACTGCCCACTGTCCGCCGGTTCCTCCGGCTCCTCCATCTTCCGCTTAAAACCGTTCCGCAGCCACCTTCCAGATCTGGCTTTTTTCGGACTCGGCCAGGGTTCCAGTTCCTGCTCCTCTGATCGGCCGCAGCGGTGCTCCCTGGTCAACATTCCCTCCTATTCTTGAGATCGCCGGAGACACTATCACCGCTCCCCATCCTATTGAAGGAATGGATGGGACTTCCCAGACCAGACTCCCCTCATTTAGTGACCACAGTTCAAGGAAAAGGGTTTGGCAGATGTAAAAGTCCAAATAGCTGTCAATTAGGATCGATTGTTTTTATGGCACAAATAAGTAGGGTCAAAACTAACCATCCTTGTTGCCCTACGGGGCCATTTGAGATGAAGTCAGACCAGTTTCACAGCATGCTGGGAGATGTAGTTTCCGGAGGTTTGAGCAACGGAAGAGCCGGGGCTAAACACTAAAATAACCGCGATTTTTAGTTTCAGCGCTAAGACCAAAAAAAAAAAAAAAAAAAAGTAGCCTCAACTCTTTATGAATTGTTTCAATCTGCAAACACATCCATTTCATCCATTTAACCATATAAACACAGATAGAACGTGGCCACCTAGAGCCCCCACCATCCAGCTACATCAGCTGCCTATCCTAAGGATAGGCTTTTTTTTTTTTTTTTTTTTTTTGGTGGGGGCGCTATTTAATGGCACAAATGGTTTGAAAAGTTTACACAGTAAATTCTGTGATGCAATTTTATAGTTCATTTCTTTTCATCATTAACTATCCATGTCCACATGAGAGTTAACAATCTCAATAATTTACTCTGGCAAATCTGATAGTACTTTCCCAAGAGACTGGCTGGTGCAGTGGAAATTGCTTGGTAGATTCCGATCAAGCAATGATGTCAAATGTAACTCCTTGAACATTCATGTGGTAGGAAGGTTGCAAGCAGTGGTGTTTGGAAACTGCAGCTCTTCTCCTCCTACCTCCTCTTGTTTCTGCAGCTAAACATAGATTAGGGAAATATTTTAGGTTTGGTGTGAGGGTCCAGTTTAAGACTATCTGAGGCGGTTTTAGAATTACCATCAGCATTTGGAGGTTCCTGGAGGCCCCTATGATCTGATACAAGCTGGCCAGTGCTCAGGATCTTAATTCTCATGGCAACCTAAACTGACTGACTAACACCACTGGGACAACCTAATATCCTTACTATATTTAAAGTCTGGCTTGCTTTTTAGACTTTAAACATTTATTGAAGATTGTGACATGCACATTGGCCATATTATCTCATTTCATCCTTGCAACAGTCCTATAAAGGAGGTTGCAATACACCCATTTTACAGATGCAGTTTAGAGAAACAACATTCAAAATCACATACTTAACAAGCAGATAAGTAGGAATTCAAAATTAGGTCAGCCTGACACTGAAGCCTTTGAACATTCCCTTTATTA
|
AAGGTAGCTGGAAGAAATCCTGTGGTTTGGCCTCAAAAGTGAAATACATAGCCAAGACCCAAGAATTCTTGCTTCTTCTTAAAGAAGACAAATCTATACCACCAGAGGTGAAAAATCTACCCATTAAAATAAAAATTTTGTAATATCTCGGACCGTATTTCCCAGTCCTAAAAGCTCCCTCTTCTAGTACCCTTCCATTTATTTTGGTAAATGTTAAAAAACACTTACTGAAAACCTCCCTATTTAACAGTAAGCAAACTGGACAGTTTTGCTTTGCTTTGATATCTTGTTTGTCATAAAATAATTTTTTGAAATGTTAAATAACTTTAATGGAAGGCATATAGTTACTATGTTAACCAAACCATATGGGTTAAAAAATGGCTTAAAATGGGTGTGGTGACACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCCGAGATCGCGCCACTGCACTCCAGCCTGCGCGACAAAGCAAGACTCCATCAAAAAAAAAAAAAAAAGGCTTAAAAATTCCCTTTAAAAGGTACAAAATGATTTTGTTAATAATAAGGATAAAATCTGAAAGCCTATTATTACACTACCTTCTGGGAGATAAATGAAGCATAGCACACTAGTTGGTATGAGCACTCACCTATTTGGCCAGAAATTGTCATAAGTAATCCTATATGTGGCAGGGTTATATTTGCTCTTATAACGACATCAAATACAGAAATGGCAATAAACAGCAAGTTCATGTTTTTGGAAGAAACAGTTAGCTCTCTCTTGAGTTCTGGCGCAGTCTTGGCAGTTTTCTTTGGTCTTTTTTGTTTGTTTGTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGGGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCTCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGAGCTCATGATCCGCCTGCCTCAGCCTCCCAAAGTACTAGGATTACAGGCGTGAGCCACCACGCCCGGCCTTCTTTGGTCTTGATCTGTCTCCAGCCTCACCCATTAAAGTTTGGTGCTGGTGGTGGGTTGTCTAAAAGTCTTAGGTTGAACTCACACCCTCAAATCTGGCTTAGAATGAAACGAAATCAAAAGAAAAATGGAACACCTCCTAGCTGAACACCTTTTTGTATGAGACAGGTTTTAATACCCAAATGTACTCAAAATCTCCACAATGCACTGCACCTACCCCTGGGATACTTAACCAAGCAATCGAGCTGTATTTCTAATGAACCTTAACTGCTTCCTGCACTTTCCACTCCCCTGTCCCAAGTTTTCTTTTCTTTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGCAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTTCACCTCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTACCACGTCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTGGTCTCAAATTACTGACCTCAGGCGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATGCTCTCGGCCCCCCAAGTTTTCTTAATTCTTCAAGAGCTTTCTTGGGATTACAGGCAGATTACAAACACTGTGAATACTTTCACAGAAAGCTAAAATAATTTTTTCAAAAGACCATTCTTTTCCTTGCCCCACTGTGAAGCAGGATATTAAGGCTACGAACACCTAGCTTCAGGGCTATGTTCAAGAAAGACAACTTACCTCATCTGCTTATGCAGTGCATATGCTTCAATCAAAGAATGCACCATACTGGCCTAAAAACATCAGCGTAAAAAAAAAAAAAAGAAAAGCAGAAATAGTCTCTTTAAAGTTTAATTCAGCAAAATCCCCGTCAATCTCACCATCCTGAACAAAGGAACGGATTAATTTTGTTTCAACTGGCTTCCCTTCTGTTAACAGTTACAATACACTTTAGACAATACAGATACAAAGTATCAAAATCACTAAGGTGAAAGCTACCGGGCCTTAGGCAGGTGATGGAACACCTTCCCCCTGCAGCTTGTTTTCCCACGACTTCAGCGGTCCCCTATGAGTGGAAACTGCGTCCTCTCCCCTCCTCCGTACCCCCTCCCCCACTCCTACCTGTCCATTGGACGTCCCGAAGAGACATGCTGCGCTCTCAGAAACGATATGAGAACACTTCCTTCTGATACAGCTTTAGGTATCTGATACAGCTACTCGAAATTTCTGAAGATTTCCCCCAGCCCAGTGTCCTCTCCGCTTCCTAACGCTCTTTCGTCCACCGCCCCCACCCCCACCCCCAAAGCCCATGGTCTTTCATCCCGACTTCCCTTACCCGTTTGGGGATCTTGGCCAGGGAGTCACACATACTGACATACTCGGGACTATAGATATAAACCGGGACCAGCGACTGCCCACTGTCCGCCGGTTCCTCCGGCTCCTCCATCTTCCGCTTAAAACCGTTCCGCAGCCACCTTCCAGATCTGGCTTTTTTCGGACTCGGCCAGGGTTCCAGTTCCTGCTCCTCTGATCGGCCGCAGCGGTGCTCCCTGGTCAACATTCCCTCCTATTCTTGAGATCGCCGGAGACACTATCACCGCTCCCCATCCTATTGAAGGAATGGATGGGACTTCCCAGACCAGACTCCCCTCATTTAGTGACCACAGTTCAAGGAAAAGGGTTTGGCAGATGTAAAAGTCCAAATAGCTGTCAATTAGGATCGATTGTTTTTATGGCACAAATAAGTAGGGTCAAAACTAACCATCCTTGTTGCCCTACGGGGCCATTTGAGATGAAGTCAGACCAGTTTCACAGCATGCTGGGAGATGTAGTTTCCGGAGGTTTGAGCAACGGAAGAGCCGGGGCTAAACACTAAAATAACCGCGATTTTTAGTTTCAGCGCTAAGACCAAAAAAAAAAAAAAAAAAAAGTAGCCTCAACTCTTTATGAATTGTTTCAATCTGCAAACACATCCATTTCATCCATTTAACCATATAAACACAGATAGAACGTGGCCACCTAGAGCCCCCACCATCCAGCTACATCAGCTGCCTATCCTAAGGATAGGCTTTTTTTTTTTTTTTTTTTTTTTGGTGGGGGCGCTATTTAATGGCACAAATGGTTTGAAAAGTTTACACAGTAAATTCTGTGATGCAATTTTATAGTTCATTTCTTTTCATCATTAACTATCCATGTCCACATGAGAGTTAACAATCTCAATAATTTACTCTGGCAAATCTGATAGTACTTTCCCAAGAGACTGGCTGGTGCAGTGGAAATTGCTTGGTAGATTCCGATCAAGCAATGATGTCAAATGTAACTCCTTGAACATTCATGTGGTAGGAAGGTTGCAAGCAGTGGTGTTTGGAAACTGCAGCTCTTCTCCTCCTACCTCCTCTTGTTTCTGCAGCTAAACATAGATTAGGGAAATATTTTAGGTTTGGTGTGAGGGTCCAGTTTAAGACTATCTGAGGCGGTTTTAGAATTACCATCAGCATTTGGAGGTTCCTGGAGGCCCCTATGATCTGATACAAGCTGGCCAGTGCTCAGGATCTTAATTCTCATGGCAACCTAAACTGACTGACTAACACCACTGGGACAACCTAATATCCTTACTATATTTAAAGTCTGGCTTGCTTTTTAGACTTTAAACATTTATTGAAGATTGTGACATGCACATTGGCCATATTATCTCATTTCATCCTTGCAACAGTCCTATAAAGGAGGTTGCAATACACCCATTTTACAGATGCAGTTTAGAGAAACAACATTCAAAATCACATACTTAACAAGCAGATAAGTAGGAATTCAAAATTAGGTCAGCCTGACACTGAAGCCTTTGAACATTCCCTTTATT
|
benign
| 336,139 |
Does the variant on chromosome X at location 72572125 affecting gene HDAC8 (histone deacetylase 8) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
benign
|
AAGGTAGCTGGAAGAAATCCTGTGGTTTGGCCTCAAAAGTGAAATACATAGCCAAGACCCAAGAATTCTTGCTTCTTCTTAAAGAAGACAAATCTATACCACCAGAGGTGAAAAATCTACCCATTAAAATAAAAATTTTGTAATATCTCGGACCGTATTTCCCAGTCCTAAAAGCTCCCTCTTCTAGTACCCTTCCATTTATTTTGGTAAATGTTAAAAAACACTTACTGAAAACCTCCCTATTTAACAGTAAGCAAACTGGACAGTTTTGCTTTGCTTTGATATCTTGTTTGTCATAAAATAATTTTTTGAAATGTTAAATAACTTTAATGGAAGGCATATAGTTACTATGTTAACCAAACCATATGGGTTAAAAAATGGCTTAAAATGGGTGTGGTGACACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCCGAGATCGCGCCACTGCACTCCAGCCTGCGCGACAAAGCAAGACTCCATCAAAAAAAAAAAAAAAAGGCTTAAAAATTCCCTTTAAAAGGTACAAAATGATTTTGTTAATAATAAGGATAAAATCTGAAAGCCTATTATTACACTACCTTCTGGGAGATAAATGAAGCATAGCACACTAGTTGGTATGAGCACTCACCTATTTGGCCAGAAATTGTCATAAGTAATCCTATATGTGGCAGGGTTATATTTGCTCTTATAACGACATCAAATACAGAAATGGCAATAAACAGCAAGTTCATGTTTTTGGAAGAAACAGTTAGCTCTCTCTTGAGTTCTGGCGCAGTCTTGGCAGTTTTCTTTGGTCTTTTTTGTTTGTTTGTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGGGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCTCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGAGCTCATGATCCGCCTGCCTCAGCCTCCCAAAGTACTAGGATTACAGGCGTGAGCCACCACGCCCGGCCTTCTTTGGTCTTGATCTGTCTCCAGCCTCACCCATTAAAGTTTGGTGCTGGTGGTGGGTTGTCTAAAAGTCTTAGGTTGAACTCACACCCTCAAATCTGGCTTAGAATGAAACGAAATCAAAAGAAAAATGGAACACCTCCTAGCTGAACACCTTTTTGTATGAGACAGGTTTTAATACCCAAATGTACTCAAAATCTCCACAATGCACTGCACCTACCCCTGGGATACTTAACCAAGCAATCGAGCTGTATTTCTAATGAACCTTAACTGCTTCCTGCACTTTCCACTCCCCTGTCCCAAGTTTTCTTTTCTTTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGCAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTTCACCTCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTACCACGTCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTGGTCTCAAATTACTGACCTCAGGCGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATGCTCTCGGCCCCCCAAGTTTTCTTAATTCTTCAAGAGCTTTCTTGGGATTACAGGCAGATTACAAACACTGTGAATACTTTCACAGAAAGCTAAAATAATTTTTTCAAAAGACCATTCTTTTCCTTGCCCCACTGTGAAGCAGGATATTAAGGCTACGAACACCTAGCTTCAGGGCTATGTTCAAGAAAGACAACTTACCTCATCTGCTTATGCAGTGCATATGCTTCAATCAAAGAATGCACCATACTGGCCTAAAAACATCAGCGTAAAAAAAAAAAAAGAAAAGCAGAAATAGTCTCTTTAAAGTTTAATTCAGCAAAATCCCCGTCAATCTCACCATCCTGAACAAAGGAACGGATTAATTTTGTTTCAACTGGCTTCCCTTCTGTTAACAGTTACAATACACTTTAGACAATACAGATACAAAGTATCAAAATCACTAAGGTGAAAGCTACCGGGCCTTAGGCAGGTGATGGAACACCTTCCCCCTGCAGCTTGTTTTCCCACGACTTCAGCGGTCCCCTATGAGTGGAAACTGCGTCCTCTCCCCTCCTCCGTACCCCCTCCCCCACTCCTACCTGTCCATTGGACGTCCCGAAGAGACATGCTGCGCTCTCAGAAACGATATGAGAACACTTCCTTCTGATACAGCTTTAGGTATCTGATACAGCTACTCGAAATTTCTGAAGATTTCCCCCAGCCCAGTGTCCTCTCCGCTTCCTAACGCTCTTTCGTCCACCGCCCCCACCCCCACCCCCAAAGCCCATGGTCTTTCATCCCGACTTCCCTTACCCGTTTGGGGATCTTGGCCAGGGAGTCACACATACTGACATACTCGGGACTATAGATATAAACCGGGACCAGCGACTGCCCACTGTCCGCCGGTTCCTCCGGCTCCTCCATCTTCCGCTTAAAACCGTTCCGCAGCCACCTTCCAGATCTGGCTTTTTTCGGACTCGGCCAGGGTTCCAGTTCCTGCTCCTCTGATCGGCCGCAGCGGTGCTCCCTGGTCAACATTCCCTCCTATTCTTGAGATCGCCGGAGACACTATCACCGCTCCCCATCCTATTGAAGGAATGGATGGGACTTCCCAGACCAGACTCCCCTCATTTAGTGACCACAGTTCAAGGAAAAGGGTTTGGCAGATGTAAAAGTCCAAATAGCTGTCAATTAGGATCGATTGTTTTTATGGCACAAATAAGTAGGGTCAAAACTAACCATCCTTGTTGCCCTACGGGGCCATTTGAGATGAAGTCAGACCAGTTTCACAGCATGCTGGGAGATGTAGTTTCCGGAGGTTTGAGCAACGGAAGAGCCGGGGCTAAACACTAAAATAACCGCGATTTTTAGTTTCAGCGCTAAGACCAAAAAAAAAAAAAAAAAAAAGTAGCCTCAACTCTTTATGAATTGTTTCAATCTGCAAACACATCCATTTCATCCATTTAACCATATAAACACAGATAGAACGTGGCCACCTAGAGCCCCCACCATCCAGCTACATCAGCTGCCTATCCTAAGGATAGGCTTTTTTTTTTTTTTTTTTTTTTTGGTGGGGGCGCTATTTAATGGCACAAATGGTTTGAAAAGTTTACACAGTAAATTCTGTGATGCAATTTTATAGTTCATTTCTTTTCATCATTAACTATCCATGTCCACATGAGAGTTAACAATCTCAATAATTTACTCTGGCAAATCTGATAGTACTTTCCCAAGAGACTGGCTGGTGCAGTGGAAATTGCTTGGTAGATTCCGATCAAGCAATGATGTCAAATGTAACTCCTTGAACATTCATGTGGTAGGAAGGTTGCAAGCAGTGGTGTTTGGAAACTGCAGCTCTTCTCCTCCTACCTCCTCTTGTTTCTGCAGCTAAACATAGATTAGGGAAATATTTTAGGTTTGGTGTGAGGGTCCAGTTTAAGACTATCTGAGGCGGTTTTAGAATTACCATCAGCATTTGGAGGTTCCTGGAGGCCCCTATGATCTGATACAAGCTGGCCAGTGCTCAGGATCTTAATTCTCATGGCAACCTAAACTGACTGACTAACACCACTGGGACAACCTAATATCCTTACTATATTTAAAGTCTGGCTTGCTTTTTAGACTTTAAACATTTATTGAAGATTGTGACATGCACATTGGCCATATTATCTCATTTCATCCTTGCAACAGTCCTATAAAGGAGGTTGCAATACACCCATTTTACAGATGCAGTTTAGAGAAACAACATTCAAAATCACATACTTAACAAGCAGATAAGTAGGAATTCAAAATTAGGTCAGCCTGACACTGAAGCCTTTGAACATTCCCTTTATTA
|
AAGGTAGCTGGAAGAAATCCTGTGGTTTGGCCTCAAAAGTGAAATACATAGCCAAGACCCAAGAATTCTTGCTTCTTCTTAAAGAAGACAAATCTATACCACCAGAGGTGAAAAATCTACCCATTAAAATAAAAATTTTGTAATATCTCGGACCGTATTTCCCAGTCCTAAAAGCTCCCTCTTCTAGTACCCTTCCATTTATTTTGGTAAATGTTAAAAAACACTTACTGAAAACCTCCCTATTTAACAGTAAGCAAACTGGACAGTTTTGCTTTGCTTTGATATCTTGTTTGTCATAAAATAATTTTTTGAAATGTTAAATAACTTTAATGGAAGGCATATAGTTACTATGTTAACCAAACCATATGGGTTAAAAAATGGCTTAAAATGGGTGTGGTGACACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCCGAGATCGCGCCACTGCACTCCAGCCTGCGCGACAAAGCAAGACTCCATCAAAAAAAAAAAAAAAAGGCTTAAAAATTCCCTTTAAAAGGTACAAAATGATTTTGTTAATAATAAGGATAAAATCTGAAAGCCTATTATTACACTACCTTCTGGGAGATAAATGAAGCATAGCACACTAGTTGGTATGAGCACTCACCTATTTGGCCAGAAATTGTCATAAGTAATCCTATATGTGGCAGGGTTATATTTGCTCTTATAACGACATCAAATACAGAAATGGCAATAAACAGCAAGTTCATGTTTTTGGAAGAAACAGTTAGCTCTCTCTTGAGTTCTGGCGCAGTCTTGGCAGTTTTCTTTGGTCTTTTTTGTTTGTTTGTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGGGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCTCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGAGCTCATGATCCGCCTGCCTCAGCCTCCCAAAGTACTAGGATTACAGGCGTGAGCCACCACGCCCGGCCTTCTTTGGTCTTGATCTGTCTCCAGCCTCACCCATTAAAGTTTGGTGCTGGTGGTGGGTTGTCTAAAAGTCTTAGGTTGAACTCACACCCTCAAATCTGGCTTAGAATGAAACGAAATCAAAAGAAAAATGGAACACCTCCTAGCTGAACACCTTTTTGTATGAGACAGGTTTTAATACCCAAATGTACTCAAAATCTCCACAATGCACTGCACCTACCCCTGGGATACTTAACCAAGCAATCGAGCTGTATTTCTAATGAACCTTAACTGCTTCCTGCACTTTCCACTCCCCTGTCCCAAGTTTTCTTTTCTTTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGCAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTTCACCTCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTACCACGTCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTGGTCTCAAATTACTGACCTCAGGCGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATGCTCTCGGCCCCCCAAGTTTTCTTAATTCTTCAAGAGCTTTCTTGGGATTACAGGCAGATTACAAACACTGTGAATACTTTCACAGAAAGCTAAAATAATTTTTTCAAAAGACCATTCTTTTCCTTGCCCCACTGTGAAGCAGGATATTAAGGCTACGAACACCTAGCTTCAGGGCTATGTTCAAGAAAGACAACTTACCTCATCTGCTTATGCAGTGCATATGCTTCAATCAAAGAATGCACCATACTGGCCTAAAAACATCAGCGTAAAAAAAAAAAAGAAAAGCAGAAATAGTCTCTTTAAAGTTTAATTCAGCAAAATCCCCGTCAATCTCACCATCCTGAACAAAGGAACGGATTAATTTTGTTTCAACTGGCTTCCCTTCTGTTAACAGTTACAATACACTTTAGACAATACAGATACAAAGTATCAAAATCACTAAGGTGAAAGCTACCGGGCCTTAGGCAGGTGATGGAACACCTTCCCCCTGCAGCTTGTTTTCCCACGACTTCAGCGGTCCCCTATGAGTGGAAACTGCGTCCTCTCCCCTCCTCCGTACCCCCTCCCCCACTCCTACCTGTCCATTGGACGTCCCGAAGAGACATGCTGCGCTCTCAGAAACGATATGAGAACACTTCCTTCTGATACAGCTTTAGGTATCTGATACAGCTACTCGAAATTTCTGAAGATTTCCCCCAGCCCAGTGTCCTCTCCGCTTCCTAACGCTCTTTCGTCCACCGCCCCCACCCCCACCCCCAAAGCCCATGGTCTTTCATCCCGACTTCCCTTACCCGTTTGGGGATCTTGGCCAGGGAGTCACACATACTGACATACTCGGGACTATAGATATAAACCGGGACCAGCGACTGCCCACTGTCCGCCGGTTCCTCCGGCTCCTCCATCTTCCGCTTAAAACCGTTCCGCAGCCACCTTCCAGATCTGGCTTTTTTCGGACTCGGCCAGGGTTCCAGTTCCTGCTCCTCTGATCGGCCGCAGCGGTGCTCCCTGGTCAACATTCCCTCCTATTCTTGAGATCGCCGGAGACACTATCACCGCTCCCCATCCTATTGAAGGAATGGATGGGACTTCCCAGACCAGACTCCCCTCATTTAGTGACCACAGTTCAAGGAAAAGGGTTTGGCAGATGTAAAAGTCCAAATAGCTGTCAATTAGGATCGATTGTTTTTATGGCACAAATAAGTAGGGTCAAAACTAACCATCCTTGTTGCCCTACGGGGCCATTTGAGATGAAGTCAGACCAGTTTCACAGCATGCTGGGAGATGTAGTTTCCGGAGGTTTGAGCAACGGAAGAGCCGGGGCTAAACACTAAAATAACCGCGATTTTTAGTTTCAGCGCTAAGACCAAAAAAAAAAAAAAAAAAAAGTAGCCTCAACTCTTTATGAATTGTTTCAATCTGCAAACACATCCATTTCATCCATTTAACCATATAAACACAGATAGAACGTGGCCACCTAGAGCCCCCACCATCCAGCTACATCAGCTGCCTATCCTAAGGATAGGCTTTTTTTTTTTTTTTTTTTTTTTGGTGGGGGCGCTATTTAATGGCACAAATGGTTTGAAAAGTTTACACAGTAAATTCTGTGATGCAATTTTATAGTTCATTTCTTTTCATCATTAACTATCCATGTCCACATGAGAGTTAACAATCTCAATAATTTACTCTGGCAAATCTGATAGTACTTTCCCAAGAGACTGGCTGGTGCAGTGGAAATTGCTTGGTAGATTCCGATCAAGCAATGATGTCAAATGTAACTCCTTGAACATTCATGTGGTAGGAAGGTTGCAAGCAGTGGTGTTTGGAAACTGCAGCTCTTCTCCTCCTACCTCCTCTTGTTTCTGCAGCTAAACATAGATTAGGGAAATATTTTAGGTTTGGTGTGAGGGTCCAGTTTAAGACTATCTGAGGCGGTTTTAGAATTACCATCAGCATTTGGAGGTTCCTGGAGGCCCCTATGATCTGATACAAGCTGGCCAGTGCTCAGGATCTTAATTCTCATGGCAACCTAAACTGACTGACTAACACCACTGGGACAACCTAATATCCTTACTATATTTAAAGTCTGGCTTGCTTTTTAGACTTTAAACATTTATTGAAGATTGTGACATGCACATTGGCCATATTATCTCATTTCATCCTTGCAACAGTCCTATAAAGGAGGTTGCAATACACCCATTTTACAGATGCAGTTTAGAGAAACAACATTCAAAATCACATACTTAACAAGCAGATAAGTAGGAATTCAAAATTAGGTCAGCCTGACACTGAAGCCTTTGAACATTCCCTTTATTAN
|
benign
| 336,140 |
A genetic alteration at chromosome X, position 72609625, in gene PHKA1 (phosphorylase kinase regulatory subunit alpha 1)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Glycogen_storage_disease_IXd']
|
TTTTTTCCCTATAGAATTGTTTGAGCTCCTTATACATTCTGGTTATTAATCCCTTATCAGATAGGTAGTTGGTAAATATTTTCTCCCATTGCACCTTTCCAATTTGCTTTAAATGCTGAATGACTGACTGTAGAATGGTCGATGCTGAGTTCTTCGGCAATTTCTCATGCAGTTTTAAGAGGATCAGCTTCAACAACTGCTCTCAATTGGTCGTTGTCAACTTTCAATAGCAGGCCACTATGCTCCTCATCTTCAAGGCTCTCATCTCCTTTGCAAAACTTCTTGAACCACCACTGCACTGTACATTTGTTAGCAGTTCCTAGGCCAAATGCCAGGCCTGTAATCCGGGACCTCAAAAACCTGCTTGGTGCTCTACCCCACTGTGGCCAACCTGGTACCTAAGCTGCAAGAAAAAGTCCCCTTTACTCTTCCCTCTCCTTTTCTTAAGCAGAAGGAGTCTCTCCCTATACCCACCACGGCTGGGCATGTGTTTGGTCACACTTGGAACCAGAATGTCTGGTCACTGTGCTGATTGTTCAGGTCCCAAGGGCTGTTTAGTCAGCACGTGATAAATCCTGCCAAAACTGGGTACTTCTCTTCAAAGTAGCAGGTTCCCTTCTGGTGCAAGGTATGTGTCAAAATGTCATCCAGGAGCTACGGACTGGAATGGGAGTCTGATGCCTCTGCCTGGTGCCCTATCCTACTGTGGCTGAGCTGGTATCCAACTTGCAAGATAAAGTCCTCTTTACTATTTCCTCTCCTCTCCTCAGTGGAAGGAAGGATTCTCTCCCAGAGTTGCACTATCTGGAGTTGGAAGAGGGGTGGCACAAGCACTCCTTTGCCCACTCTAGCTGATGTCTCACTAGGCCGCATGCACCCCAAGTCCATTGGCTTCGAGTCCAGCATAGCACAAGGATTTGCCCAGGAATTGCAGTCCTTGTGGCCTAGACTGCTTTTTGAGTCTATTTAGTACCCAGAGCACTTTAAGCCCGCGGTGGTGAAGCTTGCTGGAACTTTTGTTTCTCTAAGCCTTCATATGGGAGCTTGAACTGGAACTCAAGGGTAACAGAAATCATGGACATAAACCAGGAAGGAAGGAGTATGCAGACATCAGCAAAAGTATCCCTTCTGTAGCCAATGTAGTAAAAAAAATTTTGTAAACAAAAAACATGCTCTGGATAGAGTTTAACCAGGAAAAAATGAGGGAGAAATATTGACAAAAGTTTTTTTTTAACTACATTGGCTACAGAAGTAGAACTGGCAAGCAGGGGGGAATACCCTTTTTAAAAATTACTCCTAGTAGAAAAACAGATTCTTCAGATCATTTATGAATGAAGTTAGAATCTCTCTAAAAATATTTCTTGGAGATACAGACTGTTTGCAAGATTTAAATTTTGGCACTGGTGTGATATGAAATTAAACACATTTACTGCAGATGAATTTTACTGGCATGGCCAATGGCAAAAGGAAGACTCATGTATAAAGACTGAATTTTCCATCCCAGCCCCATCACTTGACTTACATCTCCCTCCAGGCCAAGCCTATCTTAGGGTACTGTTTCCAATTGGAGGCTGTGGCAGACCTCAGACAGTGGCACTCTGATTACAGGGTTCCTGGAGGGGTGCTACCTCACATTGCTCTGTAAGTAACCATTTTTCCTCTTTGACTATGACCTCCATCCCCTTTATTCCCCATGAGCAGCATGGAGTTTCATGGTCAGCCCTGTGCTCTAGCCACTTTCTTTCACTTGCTCTTTCCAGAGTATGGCTGACATTTTGTGGTTGCTAATTCAGGGTACCCTGTTTGTTTTGTTTTTTGAATGGCAGGTATGGAAAATCCAACAAGTAAAAAGAGTTTGAGTACTACTCTGTGAGTTTTCTCCTTCATTTACTCTTGCCCTACCATTACCAACATTCTTCCACTAGGTGTCTCTGATAGAGGTGAACATATGTAGGACATTATCATCCACTGACAGATTAGGGCAAGGGAATTCTAAGTCCACACCACTCCTTCTCAGAGAAGCCTGACCAAACCCAGCCATACTCACGCAGAGATAGTCTTTTCTCGAGGTTCTGGAGGAAGTCCTACTGTCAAATGTTTCTGGTGGGAGAGAAGGTCTGTGCAGGCCTAACAAGAGATAGCATAATATTATCGTTTCTGTAACACCTCAGGTTTCCACAAACATTTCTCTTTTCAGCTGAAAAACCTTTGCTCCTCTTTAACATAATGACACACTGAACTCTCTTCCTCAGAAAATACCATGAAGATCAGAAAAGAAGGATTTCTAGGAAGAAACAATGAGGTCTTTTCATCTATCTCCTAGAAAGTAGGAACTTTTTTGTTTGGTTGGTTTATGGGGTTTTTTTCTTTCTTTTTAAAAAATTTGTTTAAATTTTTAAGTTTTCAATTTTTATGGATAAATAAGAGTTATACATATTTATGGAGTACATGTGATATTTTCATACAAGCATACAACATGTAATGATCAAACCTGGGTAATTGAGACATCCATCACCTCAATATTTATCATTTCTTTGTGTTGGCAAGATTCCAAATCTGCTCTTCTAGTTACTTTGAGATTTACAACAAATTATTGTAAACTATAGTCACCCTATTGTGACACCAAATACTAGATCTTATTCCTTCAATCTAGTTGTATTTTCATGCCCATTAACTAAACTTTCTCTATCCCCCACTCCCGACTACCCTTCCCAGCTTCTAGTATCCATCATTCTACTCTCTACCTCTATGAGATCAACTTTTTAAGCTCGCACATATGAGTGAGAACATGTGGTATTTGTCTTTCTGTGCCTGGGTTATTTCACCTAACATAGTGCCCTCCAGTTCCATTCATGTTACTGTAAATGACAGGGTTTTACTATTTTTGATGCAGAATAATATCCAATTGTGTATATATACCACATTTTCTTTATCTGCTCATCTTCTGATGGACATTTAGGTTTATTCCATACCTTTGCTATTGGGAATAGTGCTACAATAAACATGGGAGTTGTAGATATCTCTCCCATATACTGATTTCCTTTCTTTTTGATATATACCCAGCAGTTGGACTGCTGGATCCCATGGTAGTTCTACTTTTAGTTTTTTGATGAACCTCCATAGTGTTTTACATAAGTAGCTATACTAAGTTCCATTCCCACTAATGGTGTATGGATGTTTCCCTTTCTAGGAGGTAGGAACCTAGTGTAAATTCATTCTTAAGATATAGAATTCTTAATATCATTATAAAGATGTTATGGTTTATAACATTTTATAAATCTACAATTCTTACTTGTCATTCACAAACTAAAAGAACTGAATATCAAATTTTATGTGGAAAAGACATCTCAAATGGTTAGAGGCTATGGTTGTTTTAAAAAACAATTATAGAAACCAATTTTTAAAAAGCACGCTTATTTAGATTTGGTATAAATTCAAGAATTTATAGTACCTCATCAAGTGCTTCCACTTTCTTCCTTAAGATCCCAGAAATGTATCGGATCAGGCCCCAGTGACGAATTTCTCCCACTTTGCCATACAGCTCGGTAAGAAGCTCTCTCACTGTAGCACTCCGTTCATTATACAATTCAGTGTTCCAGTCAGGTCCTCTAGAATTTTAACGACAGGACTACATCAGTTTTAAGTAAAGCTTCTGGCAATCATCTTTTCTTTCAGTGTTATAATGAACATGCCTGTTTTTGATAGGTCTCTCTCACTAGGAAATCAATGTAATTTACTAAGAATCCTTATAAAACTATGATTAACAGTCAGCTCTGAAAGCCAGTACCTACACAAGAATAAGTCTTAGTTTTAGCTGTGCTTTTGACAAAATGCATTCTTTTACCCTATTCATGGGCTTCAATATAGTTGAAATTAAAGACAAAGATTTAACAAATGAATTATTTCAAAAATCACTGTAAGGAAAGTCATATGACAAATTACCAACTAGGAAAAAATGTTTGCAATTCATAGGATAATTTCCCTTATATATAAAGAACTCCAACATGTAGATTTAAAAAATTAAAAACAAAAGAAAATCTGGCAAAACAAATACTGCTGGCAAAACAAATACTGCTGGCAAAACAAATAGATGGCT
|
TTTTTTCCCTATAGAATTGTTTGAGCTCCTTATACATTCTGGTTATTAATCCCTTATCAGATAGGTAGTTGGTAAATATTTTCTCCCATTGCACCTTTCCAATTTGCTTTAAATGCTGAATGACTGACTGTAGAATGGTCGATGCTGAGTTCTTCGGCAATTTCTCATGCAGTTTTAAGAGGATCAGCTTCAACAACTGCTCTCAATTGGTCGTTGTCAACTTTCAATAGCAGGCCACTATGCTCCTCATCTTCAAGGCTCTCATCTCCTTTGCAAAACTTCTTGAACCACCACTGCACTGTACATTTGTTAGCAGTTCCTAGGCCAAATGCCAGGCCTGTAATCCGGGACCTCAAAAACCTGCTTGGTGCTCTACCCCACTGTGGCCAACCTGGTACCTAAGCTGCAAGAAAAAGTCCCCTTTACTCTTCCCTCTCCTTTTCTTAAGCAGAAGGAGTCTCTCCCTATACCCACCACGGCTGGGCATGTGTTTGGTCACACTTGGAACCAGAATGTCTGGTCACTGTGCTGATTGTTCAGGTCCCAAGGGCTGTTTAGTCAGCACGTGATAAATCCTGCCAAAACTGGGTACTTCTCTTCAAAGTAGCAGGTTCCCTTCTGGTGCAAGGTATGTGTCAAAATGTCATCCAGGAGCTACGGACTGGAATGGGAGTCTGATGCCTCTGCCTGGTGCCCTATCCTACTGTGGCTGAGCTGGTATCCAACTTGCAAGATAAAGTCCTCTTTACTATTTCCTCTCCTCTCCTCAGTGGAAGGAAGGATTCTCTCCCAGAGTTGCACTATCTGGAGTTGGAAGAGGGGTGGCACAAGCACTCCTTTGCCCACTCTAGCTGATGTCTCACTAGGCCGCATGCACCCCAAGTCCATTGGCTTCGAGTCCAGCATAGCACAAGGATTTGCCCAGGAATTGCAGTCCTTGTGGCCTAGACTGCTTTTTGAGTCTATTTAGTACCCAGAGCACTTTAAGCCCGCGGTGGTGAAGCTTGCTGGAACTTTTGTTTCTCTAAGCCTTCATATGGGAGCTTGAACTGGAACTCAAGGGTAACAGAAATCATGGACATAAACCAGGAAGGAAGGAGTATGCAGACATCAGCAAAAGTATCCCTTCTGTAGCCAATGTAGTAAAAAAAATTTTGTAAACAAAAAACATGCTCTGGATAGAGTTTAACCAGGAAAAAATGAGGGAGAAATATTGACAAAAGTTTTTTTTTAACTACATTGGCTACAGAAGTAGAACTGGCAAGCAGGGGGGAATACCCTTTTTAAAAATTACTCCTAGTAGAAAAACAGATTCTTCAGATCATTTATGAATGAAGTTAGAATCTCTCTAAAAATATTTCTTGGAGATACAGACTGTTTGCAAGATTTAAATTTTGGCACTGGTGTGATATGAAATTAAACACATTTACTGCAGATGAATTTTACTGGCATGGCCAATGGCAAAAGGAAGACTCATGTATAAAGACTGAATTTTCCATCCCAGCCCCATCACTTGACTTACATCTCCCTCCAGGCCAAGCCTATCTTAGGGTACTGTTTCCAATTGGAGGCTGTGGCAGACCTCAGACAGTGGCACTCTGATTACAGGGTTCCTGGAGGGGTGCTACCTCACATTGCTCTGTAAGTAACCATTTTTCCTCTTTGACTATGACCTCCATCCCCTTTATTCCCCATGAGCAGCATGGAGTTTCATGGTCAGCCCTGTGCTCTAGCCACTTTCTTTCACTTGCTCTTTCCAGAGTATGGCTGACATTTTGTGGTTGCTAATTCAGGGTACCCTGTTTGTTTTGTTTTTTGAATGGCAGGTATGGAAAATCCAACAAGTAAAAAGAGTTTGAGTACTACTCTGTGAGTTTTCTCCTTCATTTACTCTTGCCCTACCATTACCAACATTCTTCCACTAGGTGTCTCTGATAGAGGTGAACATATGTAGGACATTATCATCCACTGACAGATTAGGGCAAGGGAATTCTAAGTCCACACCACTCCTTCTCAGAGAAGCCTGACCAAACCCAGCCATACTCACGCAGATAGTCTTTTCTCGAGGTTCTGGAGGAAGTCCTACTGTCAAATGTTTCTGGTGGGAGAGAAGGTCTGTGCAGGCCTAACAAGAGATAGCATAATATTATCGTTTCTGTAACACCTCAGGTTTCCACAAACATTTCTCTTTTCAGCTGAAAAACCTTTGCTCCTCTTTAACATAATGACACACTGAACTCTCTTCCTCAGAAAATACCATGAAGATCAGAAAAGAAGGATTTCTAGGAAGAAACAATGAGGTCTTTTCATCTATCTCCTAGAAAGTAGGAACTTTTTTGTTTGGTTGGTTTATGGGGTTTTTTTCTTTCTTTTTAAAAAATTTGTTTAAATTTTTAAGTTTTCAATTTTTATGGATAAATAAGAGTTATACATATTTATGGAGTACATGTGATATTTTCATACAAGCATACAACATGTAATGATCAAACCTGGGTAATTGAGACATCCATCACCTCAATATTTATCATTTCTTTGTGTTGGCAAGATTCCAAATCTGCTCTTCTAGTTACTTTGAGATTTACAACAAATTATTGTAAACTATAGTCACCCTATTGTGACACCAAATACTAGATCTTATTCCTTCAATCTAGTTGTATTTTCATGCCCATTAACTAAACTTTCTCTATCCCCCACTCCCGACTACCCTTCCCAGCTTCTAGTATCCATCATTCTACTCTCTACCTCTATGAGATCAACTTTTTAAGCTCGCACATATGAGTGAGAACATGTGGTATTTGTCTTTCTGTGCCTGGGTTATTTCACCTAACATAGTGCCCTCCAGTTCCATTCATGTTACTGTAAATGACAGGGTTTTACTATTTTTGATGCAGAATAATATCCAATTGTGTATATATACCACATTTTCTTTATCTGCTCATCTTCTGATGGACATTTAGGTTTATTCCATACCTTTGCTATTGGGAATAGTGCTACAATAAACATGGGAGTTGTAGATATCTCTCCCATATACTGATTTCCTTTCTTTTTGATATATACCCAGCAGTTGGACTGCTGGATCCCATGGTAGTTCTACTTTTAGTTTTTTGATGAACCTCCATAGTGTTTTACATAAGTAGCTATACTAAGTTCCATTCCCACTAATGGTGTATGGATGTTTCCCTTTCTAGGAGGTAGGAACCTAGTGTAAATTCATTCTTAAGATATAGAATTCTTAATATCATTATAAAGATGTTATGGTTTATAACATTTTATAAATCTACAATTCTTACTTGTCATTCACAAACTAAAAGAACTGAATATCAAATTTTATGTGGAAAAGACATCTCAAATGGTTAGAGGCTATGGTTGTTTTAAAAAACAATTATAGAAACCAATTTTTAAAAAGCACGCTTATTTAGATTTGGTATAAATTCAAGAATTTATAGTACCTCATCAAGTGCTTCCACTTTCTTCCTTAAGATCCCAGAAATGTATCGGATCAGGCCCCAGTGACGAATTTCTCCCACTTTGCCATACAGCTCGGTAAGAAGCTCTCTCACTGTAGCACTCCGTTCATTATACAATTCAGTGTTCCAGTCAGGTCCTCTAGAATTTTAACGACAGGACTACATCAGTTTTAAGTAAAGCTTCTGGCAATCATCTTTTCTTTCAGTGTTATAATGAACATGCCTGTTTTTGATAGGTCTCTCTCACTAGGAAATCAATGTAATTTACTAAGAATCCTTATAAAACTATGATTAACAGTCAGCTCTGAAAGCCAGTACCTACACAAGAATAAGTCTTAGTTTTAGCTGTGCTTTTGACAAAATGCATTCTTTTACCCTATTCATGGGCTTCAATATAGTTGAAATTAAAGACAAAGATTTAACAAATGAATTATTTCAAAAATCACTGTAAGGAAAGTCATATGACAAATTACCAACTAGGAAAAAATGTTTGCAATTCATAGGATAATTTCCCTTATATATAAAGAACTCCAACATGTAGATTTAAAAAATTAAAAACAAAAGAAAATCTGGCAAAACAAATACTGCTGGCAAAACAAATACTGCTGGCAAAACAAATAGATGGCTNN
|
pathogenic
| 336,160 |
A genetic variant at chromosome X, position 72644474, affecting gene PHKA1 (phosphorylase kinase regulatory subunit alpha 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Glycogen_storage_disease_IXd']
|
AGAGACTTCTAAGAGTTACAAAGAAGGTGACTGTAAGATCAACTAGTACTCAAGTGGGTAAGATGTTGGCTAAATAGGGAAATACCTTCCTTATCTCAAGGGATTTAGTGCTAGTGGACTAGTATCTGGAGACTAGAAGTGCATTATAGGTCTGGGGTGACAGGGAATGGCCAAAAAAAATAAAAACAGGAAGCAGGTTCTGGGAAGGGGTGAGGTATGTAACCCACCTAGCAAAGCATCCACCCAAATCAGCCTCAGAAGTTTCAGGAGCCTTGACTTGGTATTTACCTCAGTTAGGGTTGAGTAAATAGAGGGAACCAGGAGTATTTTATAATATTCAAGCTAATTTGTGGCTAGATTTTAGAAATTTATTAGGATCTGAGACATATTCAACAAATTTGTTAATTTCTTTGTGTATATATTTTAGTTTTTCATTATCTTTTTAAAGCAAAGTTTCTTTAGAAAATTCTAATCATGTTATATTTGAATTTTTAGGAAAGGGACATTCCTACATCATAGCTAAGATGGAAGAAAGAAATCCATATACTCCTAAAGCCAGAAGCCATGTTAATAGCTCCGGAATGCAAGGAGTTCAAGCCTTGTTGGCATTAAATATATGTTCCTAGAGACAGACAAAAGTCAGCTCTGACTCTTGGTCCTTTCCTCCTTGGTTGATTCCCTCTCAATTTAGACAAAGAAATTAAGTGACTGGAGTTACGTGCCAGAGAAAAGGGAAGGAGACTGGTTTTAAGCTGGGAATACTTGCCTTAACTGTAATTACTAACATACCATTCTTGGGTGATAAAAAAGTACACATACACACATACACGCACACACACACACGCGCGCACACACATATACAAACTAACTTCTGGGTTTGTAAGTGGCAATCCACTACCTAAGATCCAATCTTTTACAAATCTACTCCCTTGTGGTTTAAGATTGTATTACTTTTCTATTGGTTCTATAACAAATTACCACAAACTTGGTGGCTTAAAACAACACAGATTTATACTTCTACAGTTCTTGGCATCATGAGTCCAAAATGAGCATTATGGGACTAAAATCAAAACCAAAGTGTCAGCAGGGTTGATTCCTTCTGGAGGCTCCAGGGAAGAATCTATTCCTTGCCTCTTCCAGCTTCTAGATGATGTGGGCATTCCTTGGCTCATAGCCTTATCACTATAATCTCTTGCTTCTGTTGTCACATCTCCTACTTTTATAGTCTGGTCTTCCTCTGATTCCTTTTATAAGGACACTTGTGATTACATTTAGGGACCACCTGGGTAATCCAGGATAAGCTCCCTATCTCAAATGAGTCCATTTGGCCATATAAGTTAAGGTTTATAGGTTCCAGGAATTAGGACTTGTATATCTTTGGGGAGTCATTATTCAGTCTTCCACAAGAGTAGTTTAGAATTTCTTTTAGATAACAATATAGTAATTTGTTTAATGCAAAAAATCTATCACTAAGTTTAATATGTGAATTAATTAAAAAAATAAGTACTAATTAAAAATAAGTATTATATTAAGGAATCTTTTATATTATCAACTAGTTCATTAAATGACAAAGTATAAAAGACCTAAAAACAAGTTCCTTGGCTATCATTCCATATAAAATAAGCAAGTATTTGAAAAAGAGGTATAGGCTCCAAGAAAGGAGAGAACATGTTATTTAAGCACACACTTGGAATAAAGATACAATATTGGCTGATAATAGTCATGCCTTATGTACCCAAAGGGTTCATAAAACACACCTAAAATTATCAGGCCTGCTCAGAATAGAGAAGGTAAGAAAATTGGATTCTAGAGACTCTAAATTCCTTCTCAGATCCAGCTTAATAAAGCAATACACAATCATGAAGAAGAAAAAAGGATGGAAACCAGCCTATAATGAATAATGCTTTGATTCTAGCAGGCTAGCCAATCTCCTTACCTAGGCTGGAATAAATGTGGCTGAGAATACGAGCTGGTTGTACTCTGATGGGGTATACCTCAGCAATGGTCTCCACGTAAATTCCCTTGTCCTTCAAAATGGTCTTGATTTCTTCTGTTTCAGCTAGAATGGAGACTAGAGGAGACAAAGAAGATGAGGTCAACAGAAAATTTTATTTCAATAGCAACTTAACAATCTCTCAAGTTATATAATTTCTTTTAAAGAGAAAAAAAGGAAATGGGAGGAAATGAACAGTTATTGAGGAACTTTGATAAAATAAGTATCATGCTAAATAATATTATCTAAAAGGAAAAGGAAAATGAAAAGATCTCAAGACTAGAGCATTAGATTTTGCTTTTTGCCTAAATACTTATGTGCTCCTAGAGAATACCACACTCTTTTTATATCTAAGATTCCATGTTTAAATGGGAGAAAAATCCATCATGAGATTTGGTATAGCTTTGGTAAAAACTGATTCCCCGAGTTCTTTTGTATCAGTAAACCTAAGGTCAGAGCCAGGTATGTGGGGGTAATAAAGAACACCCTAATGACAAGAGTTGCCTATAGCTAGAGAATGATAGAAGGCATGGTGAATTGGGGATAACAATTTGAGTCATCAACATATAGAAGGTATTATAGTTGAAACTGTGTGTTTTTTAGGCAGCAGGTAGCGGGTGCTGGGGAGAGATGGGGGATGAAACTTCTCTAGATTCAGAGCCTGACAAGCCTGGACAGCTCTCTTTTCTTCCTCTTATACTCCTGTCACTGAAGTAGGAAGCCCAACTACAAGAGAGGAGGCTAGGCCAGCTTCCTGATTCTTTTTTCACTTTCGCTATATGGAACAGACACCTGGCTGGGGGCCAGTAATCCAATTGAGGCTTTAGCTGTCTTGACACTAAGCAACTGTGGCAAATGTGCCCTCTACTCCTGCTCCTCTAGTGCTGGTAGATGTGATGGATTGTTCACAGGAAAAAGAATGCACTGCTTGGCTTACCATTATTTTCTACATTGAGTTTTTGAAGCAAAGGCTTAGTTAACAAAGTGCTACTTTGCCTTCCTTTGCCATTATCCTTTGTGTATTTTTCTATCTTGGGAACCTCATGCTAATGGGCTGCTGTTGTCTGGGCCAGGATAGCAGGATATGTTGATCACAGAGTCCCCTGGACATAACACCATCTTGATTACTTCTAACTGAAAACATGAAAATAAAAGAGATTCTTCAGGGAAAAATATGCAGAGGAAGAATGATAGGGGGCTGAGGACAGTCCAGGAAAAAACATTTGGCAATTCATTCATTCATTAGTAAACATTTATTAAGTACCTCAATGGATGAGGTGCTATGCTAGTCACTAGGGATACAGAAATGGATAAATTAGTCTTTCCCTCAAGGAGCTCACAGTGTAACCGAAGTGGCATACACATGGATTGTAAAATGACCTGCTAGGTAAATAGAGATAAGTGCACAAAACTTTATGAGACCATCCAGGAGTGACACCTAGGTAGTGTGGGGTTGGGAGGAGTAGTATCAGGAAAGGCTTCTGCAAAGTGTTGATGCCTAAACTGAGTTTGAAATAATGAATAAGTTAGCTAGGAGAAACAAGGGATTAGGAAGGATATAGCCCTTCTAGGAAGAGAGTCCAGAATGAACTTATCAAGCACAGAGATGAAAAACAGCATGGCTGCATGTATAGAGGGAGGTGGGAAGAACCACATACACTTCAATATTGCTGTAGCATAATATACCTTGCATAGTGGCAAAAGAAATGGATCTGGAAAGATAGACAGGAGTTAGAGCATCGTGAAGGGCATATGCATCACTTGAAGGATTTTGTATTTCATCTTTGGGCCATGCTTTCCAAACTGCTTTCTACTGAGCCTTAGGATTCTTCATGGGAATTGGTTGTAAGAGTAGAGGGGACTGAAAGACAGTCAAGTGAACAATACTCTGGGGCCCCAGGAGTACCTTCAACCCAAGCAACTCATTTTTTTGTTTTATAAAATATTTAGAAAATTCTTATTTAGTGCCTCTTATGTGCTAGGCACTGCCATATGTTAAGGACATGATCCCTACATGGAAAAAATGAGACGGCTATAGAGTCCTCCTAGAGGCCTGAATAGAAGTTAACCTGCAACAGGATATGGTAAAGGTAAGGAAGAAAT
|
AGAGACTTCTAAGAGTTACAAAGAAGGTGACTGTAAGATCAACTAGTACTCAAGTGGGTAAGATGTTGGCTAAATAGGGAAATACCTTCCTTATCTCAAGGGATTTAGTGCTAGTGGACTAGTATCTGGAGACTAGAAGTGCATTATAGGTCTGGGGTGACAGGGAATGGCCAAAAAAAATAAAAACAGGAAGCAGGTTCTGGGAAGGGGTGAGGTATGTAACCCACCTAGCAAAGCATCCACCCAAATCAGCCTCAGAAGTTTCAGGAGCCTTGACTTGGTATTTACCTCAGTTAGGGTTGAGTAAATAGAGGGAACCAGGAGTATTTTATAATATTCAAGCTAATTTGTGGCTAGATTTTAGAAATTTATTAGGATCTGAGACATATTCAACAAATTTGTTAATTTCTTTGTGTATATATTTTAGTTTTTCATTATCTTTTTAAAGCAAAGTTTCTTTAGAAAATTCTAATCATGTTATATTTGAATTTTTAGGAAAGGGACATTCCTACATCATAGCTAAGATGGAAGAAAGAAATCCATATACTCCTAAAGCCAGAAGCCATGTTAATAGCTCCGGAATGCAAGGAGTTCAAGCCTTGTTGGCATTAAATATATGTTCCTAGAGACAGACAAAAGTCAGCTCTGACTCTTGGTCCTTTCCTCCTTGGTTGATTCCCTCTCAATTTAGACAAAGAAATTAAGTGACTGGAGTTACGTGCCAGAGAAAAGGGAAGGAGACTGGTTTTAAGCTGGGAATACTTGCCTTAACTGTAATTACTAACATACCATTCTTGGGTGATAAAAAAGTACACATACACACATACACGCACACACACACACGCGCGCACACACATATACAAACTAACTTCTGGGTTTGTAAGTGGCAATCCACTACCTAAGATCCAATCTTTTACAAATCTACTCCCTTGTGGTTTAAGATTGTATTACTTTTCTATTGGTTCTATAACAAATTACCACAAACTTGGTGGCTTAAAACAACACAGATTTATACTTCTACAGTTCTTGGCATCATGAGTCCAAAATGAGCATTATGGGACTAAAATCAAAACCAAAGTGTCAGCAGGGTTGATTCCTTCTGGAGGCTCCAGGGAAGAATCTATTCCTTGCCTCTTCCAGCTTCTAGATGATGTGGGCATTCCTTGGCTCATAGCCTTATCACTATAATCTCTTGCTTCTGTTGTCACATCTCCTACTTTTATAGTCTGGTCTTCCTCTGATTCCTTTTATAAGGACACTTGTGATTACATTTAGGGACCACCTGGGTAATCCAGGATAAGCTCCCTATCTCAAATGAGTCCATTTGGCCATATAAGTTAAGGTTTATAGGTTCCAGGAATTAGGACTTGTATATCTTTGGGGAGTCATTATTCAGTCTTCCACAAGAGTAGTTTAGAATTTCTTTTAGATAACAATATAGTAATTTGTTTAATGCAAAAAATCTATCACTAAGTTTAATATGTGAATTAATTAAAAAAATAAGTACTAATTAAAAATAAGTATTATATTAAGGAATCTTTTATATTATCAACTAGTTCATTAAATGACAAAGTATAAAAGACCTAAAAACAAGTTCCTTGGCTATCATTCCATATAAAATAAGCAAGTATTTGAAAAAGAGGTATAGGCTCCAAGAAAGGAGAGAACATGTTATTTAAGCACACACTTGGAATAAAGATACAATATTGGCTGATAATAGTCATGCCTTATGTACCCAAAGGGTTCATAAAACACACCTAAAATTATCAGGCCTGCTCAGAATAGAGAAGGTAAGAAAATTGGATTCTAGAGACTCTAAATTCCTTCTCAGATCCAGCTTAATAAAGCAATACACAATCATGAAGAAGAAAAAAGGATGGAAACCAGCCTATAATGAATAATGCTTTGATTCTAGCAGGCTAGCCAATCTCCTTACCTAGGCTGGAATAAATGTGGCTGAGAATACGAGCTGGTTGTACTCTGATGGGGTATACCTCAGCAATGGTCTCCACGTAAATTCCCTTGTCCTTCAAAATGGTCTTGATTTCTTGTTTCAGCTAGAATGGAGACTAGAGGAGACAAAGAAGATGAGGTCAACAGAAAATTTTATTTCAATAGCAACTTAACAATCTCTCAAGTTATATAATTTCTTTTAAAGAGAAAAAAAGGAAATGGGAGGAAATGAACAGTTATTGAGGAACTTTGATAAAATAAGTATCATGCTAAATAATATTATCTAAAAGGAAAAGGAAAATGAAAAGATCTCAAGACTAGAGCATTAGATTTTGCTTTTTGCCTAAATACTTATGTGCTCCTAGAGAATACCACACTCTTTTTATATCTAAGATTCCATGTTTAAATGGGAGAAAAATCCATCATGAGATTTGGTATAGCTTTGGTAAAAACTGATTCCCCGAGTTCTTTTGTATCAGTAAACCTAAGGTCAGAGCCAGGTATGTGGGGGTAATAAAGAACACCCTAATGACAAGAGTTGCCTATAGCTAGAGAATGATAGAAGGCATGGTGAATTGGGGATAACAATTTGAGTCATCAACATATAGAAGGTATTATAGTTGAAACTGTGTGTTTTTTAGGCAGCAGGTAGCGGGTGCTGGGGAGAGATGGGGGATGAAACTTCTCTAGATTCAGAGCCTGACAAGCCTGGACAGCTCTCTTTTCTTCCTCTTATACTCCTGTCACTGAAGTAGGAAGCCCAACTACAAGAGAGGAGGCTAGGCCAGCTTCCTGATTCTTTTTTCACTTTCGCTATATGGAACAGACACCTGGCTGGGGGCCAGTAATCCAATTGAGGCTTTAGCTGTCTTGACACTAAGCAACTGTGGCAAATGTGCCCTCTACTCCTGCTCCTCTAGTGCTGGTAGATGTGATGGATTGTTCACAGGAAAAAGAATGCACTGCTTGGCTTACCATTATTTTCTACATTGAGTTTTTGAAGCAAAGGCTTAGTTAACAAAGTGCTACTTTGCCTTCCTTTGCCATTATCCTTTGTGTATTTTTCTATCTTGGGAACCTCATGCTAATGGGCTGCTGTTGTCTGGGCCAGGATAGCAGGATATGTTGATCACAGAGTCCCCTGGACATAACACCATCTTGATTACTTCTAACTGAAAACATGAAAATAAAAGAGATTCTTCAGGGAAAAATATGCAGAGGAAGAATGATAGGGGGCTGAGGACAGTCCAGGAAAAAACATTTGGCAATTCATTCATTCATTAGTAAACATTTATTAAGTACCTCAATGGATGAGGTGCTATGCTAGTCACTAGGGATACAGAAATGGATAAATTAGTCTTTCCCTCAAGGAGCTCACAGTGTAACCGAAGTGGCATACACATGGATTGTAAAATGACCTGCTAGGTAAATAGAGATAAGTGCACAAAACTTTATGAGACCATCCAGGAGTGACACCTAGGTAGTGTGGGGTTGGGAGGAGTAGTATCAGGAAAGGCTTCTGCAAAGTGTTGATGCCTAAACTGAGTTTGAAATAATGAATAAGTTAGCTAGGAGAAACAAGGGATTAGGAAGGATATAGCCCTTCTAGGAAGAGAGTCCAGAATGAACTTATCAAGCACAGAGATGAAAAACAGCATGGCTGCATGTATAGAGGGAGGTGGGAAGAACCACATACACTTCAATATTGCTGTAGCATAATATACCTTGCATAGTGGCAAAAGAAATGGATCTGGAAAGATAGACAGGAGTTAGAGCATCGTGAAGGGCATATGCATCACTTGAAGGATTTTGTATTTCATCTTTGGGCCATGCTTTCCAAACTGCTTTCTACTGAGCCTTAGGATTCTTCATGGGAATTGGTTGTAAGAGTAGAGGGGACTGAAAGACAGTCAAGTGAACAATACTCTGGGGCCCCAGGAGTACCTTCAACCCAAGCAACTCATTTTTTTGTTTTATAAAATATTTAGAAAATTCTTATTTAGTGCCTCTTATGTGCTAGGCACTGCCATATGTTAAGGACATGATCCCTACATGGAAAAAATGAGACGGCTATAGAGTCCTCCTAGAGGCCTGAATAGAAGTTAACCTGCAACAGGATATGGTAAAGGTAAGGAAGAAATNN
|
pathogenic
| 336,176 |
Is the genetic change at chromosome X, position 74421523, within gene SLC16A2 (solute carrier family 16 member 2) benign or pathogenic? Name the disease(s) if pathogenic.
|
benign
|
CTGGGCTACAGAGCGAGACTGTCTCAAAAAGAAAAAAAAAATTCCAGGCCCATCTTGAACACCACCTCTTCCAGAAGCCCACTGTGATAGTGCAGTCAGATCCTGCCTTCCCTCCTCTGTCTCCTCCCAGGGAGCCTCAAATCCTAGACTCTTTTGGTGAAACACAGGGAGCATGAAGCTTCTCGTTATATGGAGACCTGCCTTGAATTCTAGCTTGTCCTTGACTTGGCCCATGATCTTAGGCTAATAAATGCCTTGACCTCGTTGAGCCTCAGTTTTCGTGCAAAAAAGCAGGTAATAATAAACCTTAGGGCAATAAGGGACGTGCTCTGTTCGGGCAATGCCTTCCCTGCTGAGTGGCGTGGCCCTGTGATTTTTGAATTTGGCTGATTCCTCTCATATGGCAGCGCAAGCCCCTCAGGACGTCTATATCCTTCCACCCAGCTCCGCCAGCCCTCAGGTGCTTAATGACTGTATTTACAGGCATCTAGCGCAGCCACGCAGCCCCGGAGCTGCATCACCTCTGGCTATGCAGTCTTTCACTTATCAGGAGGGTTAATGAGATGCAGGGTAGAAAGGTCTTGCCACTCGCCCGCCCGCTCGTGGAAGCCGAGTAGCTTGGTAACGACACCACGACTTCACGTTTAGTGCATTAGACGCGTAGACCCTTAGGGGAGGCAGAGCTTCCCGGTATCGCCGAGCGGGCCCTGAGGGCTGAGGCTGGGCACCCCTGCGCACCCCTGCTGAGTGCCCGGCCACCAGAAAGACAGATCCCCCACCTTTCCTTCTCCCTGACCCGGCGCGCTTCCTGGGGAACAAACTCTCCCTTACCCTCAGTGGGGCTGGGGCCTCAGTCTGCGACATACAGTGGGACTCCCATGTCTGCATGCCTGAGGTGGGCGGAAGGGGGCGGTGGGTGCTGGGAAGACATCCGTCCGCTTGCAGCTCCGCTGAGTCTCCAGCACCTGAAAAGCCGCGGCCGAGGCCTGAGGGACCAGCCCAGCCGAGATATCGGGGGCGGGGCAGCCCAATCCCAAACTGGCGGCTGGACCCGACTCCAACTCGTTCCTCCTAAGTCCGGGACAGATTGTCGGGAGGAGCTTGAACTGAGCTTCGGCTCCCGACTGGGCCTGGGCCCGGCCCCCACTGGTGCCACCTCCCTCCCTTCCTGGCCCGGCTCCTGGCCCACACTCGGCCCTGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCTCTGAGGCTCCTCCGGGCTCCAGGTTGGCGCAAACAAAGCCCTGATTGACTGCCCGGAGGGGCGGGCCTCGCTGCATGGCCGCCTCCTCCCCTCCCAGGCCGCCAGGGATTTGCCGGGAAGAGCGGGGGCAGGGGGAGACTCCCGGGGGTGCGCAGGACCGCGGGGGGCCGAGTCCTCGGGCTCGAGAAGATTGTGTCCACCCGCTGTCCGAGGCCCAGGCTGTCCCCTCAGGTCGTCCTCCTCAAGTCCAAGGAGGGACATGGGAGCTCCTGAGGGCAGGGTGGGGTTCCTCGCGGGCCAGCTGTCGTCCTAGGGTCCCCGGTGCCACCTCAGTTGCGGGCTGCTTGTGAGGAAGGAGGGTATGGGAGCAAAAAATAGGAGGGGTCTTCCCGAGGCTCGGGGTTGATCAGTGTCGGTTCTAGAGCCTGCGGGGAAAAGAGGGCAGGAGAACAGGATAGTTTGTGCTTCCTTTTTTCCATTTTAACTTTTCCTCTAACGGGCATCCGGGCAAGAACAGGGTTCAGTAGTTTGGGAAGGGAGCTGGGGGAGGCAGTGGCGGCTGGAGTAGGTAGGCGAGTAAAAGGAGGAGGAAGGGCTGGGGAGAAGAGCGAGGCTGTAGCGGCTGCCTGTTGAGGGAGGAAGAGGTGGGGGGTGTGGAGGAGGGGGAGGAGAGAGAGATGACATGGGGAGAGGAGGAGGGGGGTTGGACGTGGGAGGAGGAGGAGAGGGCTCGAGGGACCGTCTGTCGCGGGACGGGCTGGCCAGCTGGGGCGCGGAGCCTGGAGGAGGAGGCAGCGGCAGCGGCAGCAGCAGCCCTCCGAGCAGCAGCAGCTGCAGCAGCAGAAACAAGTACCAGCCACAAAGCGGCTCCTCTGGCCCAAGCAGCCACAGTCCCCCCGCCGCGATGGCGCTGCAAAGCCAGGCGAGCGAGGAAGCAAAGGGGCCCTGGCAGGAGGCAGACCAGGAACAGCAGGAGCCGGTGGGTAGCCCAGAGCCGGAGTCTGAGCCGGAGCCTGAGCCCGAGCCCGAGCCCGTGCCAGTGCCCCCGCCCGAGCCCCAGCCGGAGCCCCAGCCCCTACCGGACCCCGCACCCCTGCCGGAGCTGGAGTTCGAGTCCGAGCGGGTGCACGAACCCGAGCCCACGCCTACGGTAGAGACCCGCGGCACCGCGCGCGGCTTCCAGCCTCCCGAAGGTGGCTTCGGCTGGGTGGTGGTGTTCGCTGCCACCTGGTGCAACGGCTCCATCTTCGGCATCCATAACTCTGTCGGGATCCTCTACTCCATGCTGCTAGAGGAGGAAAAGGAAAAAAATCGCCAAGTGGAGTTCCAAGCAGGTGAGTGGCCCCGCACGCCCCACTTGGCATTTTGGGCAAGGTTGGCCGCTCCCGCTGCCACCGACCCCATACCTCCCGGTCCGAGGCGCCCCTCCAACGCGCCTCTCCGACTCCTCCCCTTACCCCTTACCCCTTGCCCCTTGCCCCTTTCCATGGCTCTCCTAGGGTGCGGGTTGCGGGGCTTTGGGCAGCTTGGACTGGGGAGACTAGGTGCAAGGCGTCCCGGGGGTACGAACTGGGACATTCATTGATCCTTGGCAAGCAATGGACTTTTTTTTGCCCTGGGACAAATCTAAATGCACCTTTCAGGTTTAAGGTACCTTTGCCCCTGTGTGCTGGGGGAAAATATTTGCAGGACTTTTTTTTTTTTTGGAGGTGGGGAGAAGTCATGAGGAGAGGAGAGAATTGAGAGGCGGGGCGGGCTCTGAGAGAAGCACTGTACCGCTGATCTCCGCAGCAGCCCCCCGGTTCCTTTGGGGAAACGGAGGTGTTTTCTGTTAAAAACACTTTAGGAATCCTGATGACTATGAGCGAAGAGTCAAACACATGGCAGGCGTGCGTGTCTGCAAGAGAGAAAGGGAGGGAGGGAGTTCGAGTCGGGGTGTGAGTGCGTCTCTGGCCGCCGCCGTTACGGCCCAGCTGGGCCCGGCAGTCCTCTGCCGCCCCGCGGGAGTGAATGGATCTCCGTGCCCTATGAGCCGAGCCCCAGAGCGGGCGGGGAGGCGGTCTCCGCAGTCTCCTGCCAGAGAGGCGTGAGGCCGCAGGCAGGCTGGGCCCTGCTGCTCACTCCGCACCGCCCCCAACTTCAGCCCTGCCTTCCCCGGCAACCCGCGCCTCTCTGCTACCGGTGGGGTGCCTCGTTCGGCCTACAGCCTGAGTGCCAGACCCGCCATTCCAGCTTTCCCCTGGAGCTGACTTGATCTCAGACAGAGTTGGGGGGCATAGCCCTCGCTTTCCAGGCCAGTGGACGCAAGACCCCAGGCGTGTGCGCTCTTCTCATTGAGGCCGCCTGTGAGCTGGGAGAAGTCAGAGGAACCATCTCGCTTTCCCAGCAAAGCCGCTGGCGAAATCCCTCAGCAGTTCTGGTGAGGGATTCAGACGAAGACGGGGGATTGGGATGCCCTCTCTGGCAAGGCTTGCTCCCTCTCGTGGCTCCTCAGGACAGCTCGACTCTTGCCACCAGCCCCAAGTTCACAACTCAGAATATGTGGCTTTTCGCAGTGTTGCCCTCGGACTGAGGAGTTCCATCCTCTCGCCAACCTCCAACCCCCACATATTTCTACTGCCATTTGAGGGGACCTGGGAATTATTAAGTGAACATAGAAACCTTGAATTCTGGAGTGTCCACCTGTGGATTCCCTGGGCCCTCTCCAGGACTTGTGGTTTTAGTTTGCAGCTTTGCTGGACTTCCCTGGCAGAAGGGGCTTTGGGGATCTTGGTGCCTCAGACCTTGTGATCCATTGGCACAGCAGCGGTGTGCAGGCCCCGATGAAGATAGTGCGT
|
CTGGGCTACAGAGCGAGACTGTCTCAAAAAGAAAAAAAAAATTCCAGGCCCATCTTGAACACCACCTCTTCCAGAAGCCCACTGTGATAGTGCAGTCAGATCCTGCCTTCCCTCCTCTGTCTCCTCCCAGGGAGCCTCAAATCCTAGACTCTTTTGGTGAAACACAGGGAGCATGAAGCTTCTCGTTATATGGAGACCTGCCTTGAATTCTAGCTTGTCCTTGACTTGGCCCATGATCTTAGGCTAATAAATGCCTTGACCTCGTTGAGCCTCAGTTTTCGTGCAAAAAAGCAGGTAATAATAAACCTTAGGGCAATAAGGGACGTGCTCTGTTCGGGCAATGCCTTCCCTGCTGAGTGGCGTGGCCCTGTGATTTTTGAATTTGGCTGATTCCTCTCATATGGCAGCGCAAGCCCCTCAGGACGTCTATATCCTTCCACCCAGCTCCGCCAGCCCTCAGGTGCTTAATGACTGTATTTACAGGCATCTAGCGCAGCCACGCAGCCCCGGAGCTGCATCACCTCTGGCTATGCAGTCTTTCACTTATCAGGAGGGTTAATGAGATGCAGGGTAGAAAGGTCTTGCCACTCGCCCGCCCGCTCGTGGAAGCCGAGTAGCTTGGTAACGACACCACGACTTCACGTTTAGTGCATTAGACGCGTAGACCCTTAGGGGAGGCAGAGCTTCCCGGTATCGCCGAGCGGGCCCTGAGGGCTGAGGCTGGGCACCCCTGCGCACCCCTGCTGAGTGCCCGGCCACCAGAAAGACAGATCCCCCACCTTTCCTTCTCCCTGACCCGGCGCGCTTCCTGGGGAACAAACTCTCCCTTACCCTCAGTGGGGCTGGGGCCTCAGTCTGCGACATACAGTGGGACTCCCATGTCTGCATGCCTGAGGTGGGCGGAAGGGGGCGGTGGGTGCTGGGAAGACATCCGTCCGCTTGCAGCTCCGCTGAGTCTCCAGCACCTGAAAAGCCGCGGCCGAGGCCTGAGGGACCAGCCCAGCCGAGATATCGGGGGCGGGGCAGCCCAATCCCAAACTGGCGGCTGGACCCGACTCCAACTCGTTCCTCCTAAGTCCGGGACAGATTGTCGGGAGGAGCTTGAACTGAGCTTCGGCTCCCGACTGGGCCTGGGCCCGGCCCCCACTGGTGCCACCTCCCTCCCTTCCTGGCCCGGCTCCTGGCCCACACTCGGCCCTGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCTCTGAGGCTCCTCCGGGCTCCAGGTTGGCGCAAACAAAGCCCTGATTGACTGCCCGGAGGGGCGGGCCTCGCTGCATGGCCGCCTCCTCCCCTCCCAGGCCGCCAGGGATTTGCCGGGAAGAGCGGGGGCAGGGGGAGACTCCCGGGGGTGCGCAGGACCGCGGGGGGCCGAGTCCTCGGGCTCGAGAAGATTGTGTCCACCCGCTGTCCGAGGCCCAGGCTGTCCCCTCAGGTCGTCCTCCTCAAGTCCAAGGAGGGACATGGGAGCTCCTGAGGGCAGGGTGGGGTTCCTCGCGGGCCAGCTGTCGTCCTAGGGTCCCCGGTGCCACCTCAGTTGCGGGCTGCTTGTGAGGAAGGAGGGTATGGGAGCAAAAAATAGGAGGGGTCTTCCCGAGGCTCGGGGTTGATCAGTGTCGGTTCTAGAGCCTGCGGGGAAAAGAGGGCAGGAGAACAGGATAGTTTGTGCTTCCTTTTTTCCATTTTAACTTTTCCTCTAACGGGCATCCGGGCAAGAACAGGGTTCAGTAGTTTGGGAAGGGAGCTGGGGGAGGCAGTGGCGGCTGGAGTAGGTAGGCGAGTAAAAGGAGGAGGAAGGGCTGGGGAGAAGAGCGAGGCTGTAGCGGCTGCCTGTTGAGGGAGGAAGAGGTGGGGGGTGTGGAGGAGGGGGAGGAGAGAGAGATGACATGGGGAGAGGAGGAGGGGGGTTGGACGTGGGAGGAGGAGGAGAGGGCTCGAGGGACCGTCTGTCGCGGGACGGGCTGGCCAGCTGGGGCGCGGAGCCTGGAGGAGGAGGCAGCGGCAGCGGCAGCGGCAGCAGCAGCCCTCCGAGCAGCAGCAGCTGCAGCAGCAGAAACAAGTACCAGCCACAAAGCGGCTCCTCTGGCCCAAGCAGCCACAGTCCCCCCGCCGCGATGGCGCTGCAAAGCCAGGCGAGCGAGGAAGCAAAGGGGCCCTGGCAGGAGGCAGACCAGGAACAGCAGGAGCCGGTGGGTAGCCCAGAGCCGGAGTCTGAGCCGGAGCCTGAGCCCGAGCCCGAGCCCGTGCCAGTGCCCCCGCCCGAGCCCCAGCCGGAGCCCCAGCCCCTACCGGACCCCGCACCCCTGCCGGAGCTGGAGTTCGAGTCCGAGCGGGTGCACGAACCCGAGCCCACGCCTACGGTAGAGACCCGCGGCACCGCGCGCGGCTTCCAGCCTCCCGAAGGTGGCTTCGGCTGGGTGGTGGTGTTCGCTGCCACCTGGTGCAACGGCTCCATCTTCGGCATCCATAACTCTGTCGGGATCCTCTACTCCATGCTGCTAGAGGAGGAAAAGGAAAAAAATCGCCAAGTGGAGTTCCAAGCAGGTGAGTGGCCCCGCACGCCCCACTTGGCATTTTGGGCAAGGTTGGCCGCTCCCGCTGCCACCGACCCCATACCTCCCGGTCCGAGGCGCCCCTCCAACGCGCCTCTCCGACTCCTCCCCTTACCCCTTACCCCTTGCCCCTTGCCCCTTTCCATGGCTCTCCTAGGGTGCGGGTTGCGGGGCTTTGGGCAGCTTGGACTGGGGAGACTAGGTGCAAGGCGTCCCGGGGGTACGAACTGGGACATTCATTGATCCTTGGCAAGCAATGGACTTTTTTTTGCCCTGGGACAAATCTAAATGCACCTTTCAGGTTTAAGGTACCTTTGCCCCTGTGTGCTGGGGGAAAATATTTGCAGGACTTTTTTTTTTTTTGGAGGTGGGGAGAAGTCATGAGGAGAGGAGAGAATTGAGAGGCGGGGCGGGCTCTGAGAGAAGCACTGTACCGCTGATCTCCGCAGCAGCCCCCCGGTTCCTTTGGGGAAACGGAGGTGTTTTCTGTTAAAAACACTTTAGGAATCCTGATGACTATGAGCGAAGAGTCAAACACATGGCAGGCGTGCGTGTCTGCAAGAGAGAAAGGGAGGGAGGGAGTTCGAGTCGGGGTGTGAGTGCGTCTCTGGCCGCCGCCGTTACGGCCCAGCTGGGCCCGGCAGTCCTCTGCCGCCCCGCGGGAGTGAATGGATCTCCGTGCCCTATGAGCCGAGCCCCAGAGCGGGCGGGGAGGCGGTCTCCGCAGTCTCCTGCCAGAGAGGCGTGAGGCCGCAGGCAGGCTGGGCCCTGCTGCTCACTCCGCACCGCCCCCAACTTCAGCCCTGCCTTCCCCGGCAACCCGCGCCTCTCTGCTACCGGTGGGGTGCCTCGTTCGGCCTACAGCCTGAGTGCCAGACCCGCCATTCCAGCTTTCCCCTGGAGCTGACTTGATCTCAGACAGAGTTGGGGGGCATAGCCCTCGCTTTCCAGGCCAGTGGACGCAAGACCCCAGGCGTGTGCGCTCTTCTCATTGAGGCCGCCTGTGAGCTGGGAGAAGTCAGAGGAACCATCTCGCTTTCCCAGCAAAGCCGCTGGCGAAATCCCTCAGCAGTTCTGGTGAGGGATTCAGACGAAGACGGGGGATTGGGATGCCCTCTCTGGCAAGGCTTGCTCCCTCTCGTGGCTCCTCAGGACAGCTCGACTCTTGCCACCAGCCCCAAGTTCACAACTCAGAATATGTGGCTTTTCGCAGTGTTGCCCTCGGACTGAGGAGTTCCATCCTCTCGCCAACCTCCAACCCCCACATATTTCTACTGCCATTTGAGGGGACCTGGGAATTATTAAGTGAACATAGAAACCTTGAATTCTGGAGTGTCCACCTGTGGATTCCCTGGGCCCTCTCCAGGACTTGTGGTTTTAGTTTGCAGCTTTGCTGGACTTCCCTGGCAGAAGGGGCTTTGGGGATCTTGGTGCCTCAGACCTTGTGATCCATTGGCACAGCAGCGGTGTGCAGGCCCCGATGAAGATA
|
benign
| 336,202 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 74421523, gene SLC16A2 (solute carrier family 16 member 2). What disease(s) is it linked to if pathogenic?
|
benign
|
CTGGGCTACAGAGCGAGACTGTCTCAAAAAGAAAAAAAAAATTCCAGGCCCATCTTGAACACCACCTCTTCCAGAAGCCCACTGTGATAGTGCAGTCAGATCCTGCCTTCCCTCCTCTGTCTCCTCCCAGGGAGCCTCAAATCCTAGACTCTTTTGGTGAAACACAGGGAGCATGAAGCTTCTCGTTATATGGAGACCTGCCTTGAATTCTAGCTTGTCCTTGACTTGGCCCATGATCTTAGGCTAATAAATGCCTTGACCTCGTTGAGCCTCAGTTTTCGTGCAAAAAAGCAGGTAATAATAAACCTTAGGGCAATAAGGGACGTGCTCTGTTCGGGCAATGCCTTCCCTGCTGAGTGGCGTGGCCCTGTGATTTTTGAATTTGGCTGATTCCTCTCATATGGCAGCGCAAGCCCCTCAGGACGTCTATATCCTTCCACCCAGCTCCGCCAGCCCTCAGGTGCTTAATGACTGTATTTACAGGCATCTAGCGCAGCCACGCAGCCCCGGAGCTGCATCACCTCTGGCTATGCAGTCTTTCACTTATCAGGAGGGTTAATGAGATGCAGGGTAGAAAGGTCTTGCCACTCGCCCGCCCGCTCGTGGAAGCCGAGTAGCTTGGTAACGACACCACGACTTCACGTTTAGTGCATTAGACGCGTAGACCCTTAGGGGAGGCAGAGCTTCCCGGTATCGCCGAGCGGGCCCTGAGGGCTGAGGCTGGGCACCCCTGCGCACCCCTGCTGAGTGCCCGGCCACCAGAAAGACAGATCCCCCACCTTTCCTTCTCCCTGACCCGGCGCGCTTCCTGGGGAACAAACTCTCCCTTACCCTCAGTGGGGCTGGGGCCTCAGTCTGCGACATACAGTGGGACTCCCATGTCTGCATGCCTGAGGTGGGCGGAAGGGGGCGGTGGGTGCTGGGAAGACATCCGTCCGCTTGCAGCTCCGCTGAGTCTCCAGCACCTGAAAAGCCGCGGCCGAGGCCTGAGGGACCAGCCCAGCCGAGATATCGGGGGCGGGGCAGCCCAATCCCAAACTGGCGGCTGGACCCGACTCCAACTCGTTCCTCCTAAGTCCGGGACAGATTGTCGGGAGGAGCTTGAACTGAGCTTCGGCTCCCGACTGGGCCTGGGCCCGGCCCCCACTGGTGCCACCTCCCTCCCTTCCTGGCCCGGCTCCTGGCCCACACTCGGCCCTGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCTCTGAGGCTCCTCCGGGCTCCAGGTTGGCGCAAACAAAGCCCTGATTGACTGCCCGGAGGGGCGGGCCTCGCTGCATGGCCGCCTCCTCCCCTCCCAGGCCGCCAGGGATTTGCCGGGAAGAGCGGGGGCAGGGGGAGACTCCCGGGGGTGCGCAGGACCGCGGGGGGCCGAGTCCTCGGGCTCGAGAAGATTGTGTCCACCCGCTGTCCGAGGCCCAGGCTGTCCCCTCAGGTCGTCCTCCTCAAGTCCAAGGAGGGACATGGGAGCTCCTGAGGGCAGGGTGGGGTTCCTCGCGGGCCAGCTGTCGTCCTAGGGTCCCCGGTGCCACCTCAGTTGCGGGCTGCTTGTGAGGAAGGAGGGTATGGGAGCAAAAAATAGGAGGGGTCTTCCCGAGGCTCGGGGTTGATCAGTGTCGGTTCTAGAGCCTGCGGGGAAAAGAGGGCAGGAGAACAGGATAGTTTGTGCTTCCTTTTTTCCATTTTAACTTTTCCTCTAACGGGCATCCGGGCAAGAACAGGGTTCAGTAGTTTGGGAAGGGAGCTGGGGGAGGCAGTGGCGGCTGGAGTAGGTAGGCGAGTAAAAGGAGGAGGAAGGGCTGGGGAGAAGAGCGAGGCTGTAGCGGCTGCCTGTTGAGGGAGGAAGAGGTGGGGGGTGTGGAGGAGGGGGAGGAGAGAGAGATGACATGGGGAGAGGAGGAGGGGGGTTGGACGTGGGAGGAGGAGGAGAGGGCTCGAGGGACCGTCTGTCGCGGGACGGGCTGGCCAGCTGGGGCGCGGAGCCTGGAGGAGGAGGCAGCGGCAGCGGCAGCAGCAGCCCTCCGAGCAGCAGCAGCTGCAGCAGCAGAAACAAGTACCAGCCACAAAGCGGCTCCTCTGGCCCAAGCAGCCACAGTCCCCCCGCCGCGATGGCGCTGCAAAGCCAGGCGAGCGAGGAAGCAAAGGGGCCCTGGCAGGAGGCAGACCAGGAACAGCAGGAGCCGGTGGGTAGCCCAGAGCCGGAGTCTGAGCCGGAGCCTGAGCCCGAGCCCGAGCCCGTGCCAGTGCCCCCGCCCGAGCCCCAGCCGGAGCCCCAGCCCCTACCGGACCCCGCACCCCTGCCGGAGCTGGAGTTCGAGTCCGAGCGGGTGCACGAACCCGAGCCCACGCCTACGGTAGAGACCCGCGGCACCGCGCGCGGCTTCCAGCCTCCCGAAGGTGGCTTCGGCTGGGTGGTGGTGTTCGCTGCCACCTGGTGCAACGGCTCCATCTTCGGCATCCATAACTCTGTCGGGATCCTCTACTCCATGCTGCTAGAGGAGGAAAAGGAAAAAAATCGCCAAGTGGAGTTCCAAGCAGGTGAGTGGCCCCGCACGCCCCACTTGGCATTTTGGGCAAGGTTGGCCGCTCCCGCTGCCACCGACCCCATACCTCCCGGTCCGAGGCGCCCCTCCAACGCGCCTCTCCGACTCCTCCCCTTACCCCTTACCCCTTGCCCCTTGCCCCTTTCCATGGCTCTCCTAGGGTGCGGGTTGCGGGGCTTTGGGCAGCTTGGACTGGGGAGACTAGGTGCAAGGCGTCCCGGGGGTACGAACTGGGACATTCATTGATCCTTGGCAAGCAATGGACTTTTTTTTGCCCTGGGACAAATCTAAATGCACCTTTCAGGTTTAAGGTACCTTTGCCCCTGTGTGCTGGGGGAAAATATTTGCAGGACTTTTTTTTTTTTTGGAGGTGGGGAGAAGTCATGAGGAGAGGAGAGAATTGAGAGGCGGGGCGGGCTCTGAGAGAAGCACTGTACCGCTGATCTCCGCAGCAGCCCCCCGGTTCCTTTGGGGAAACGGAGGTGTTTTCTGTTAAAAACACTTTAGGAATCCTGATGACTATGAGCGAAGAGTCAAACACATGGCAGGCGTGCGTGTCTGCAAGAGAGAAAGGGAGGGAGGGAGTTCGAGTCGGGGTGTGAGTGCGTCTCTGGCCGCCGCCGTTACGGCCCAGCTGGGCCCGGCAGTCCTCTGCCGCCCCGCGGGAGTGAATGGATCTCCGTGCCCTATGAGCCGAGCCCCAGAGCGGGCGGGGAGGCGGTCTCCGCAGTCTCCTGCCAGAGAGGCGTGAGGCCGCAGGCAGGCTGGGCCCTGCTGCTCACTCCGCACCGCCCCCAACTTCAGCCCTGCCTTCCCCGGCAACCCGCGCCTCTCTGCTACCGGTGGGGTGCCTCGTTCGGCCTACAGCCTGAGTGCCAGACCCGCCATTCCAGCTTTCCCCTGGAGCTGACTTGATCTCAGACAGAGTTGGGGGGCATAGCCCTCGCTTTCCAGGCCAGTGGACGCAAGACCCCAGGCGTGTGCGCTCTTCTCATTGAGGCCGCCTGTGAGCTGGGAGAAGTCAGAGGAACCATCTCGCTTTCCCAGCAAAGCCGCTGGCGAAATCCCTCAGCAGTTCTGGTGAGGGATTCAGACGAAGACGGGGGATTGGGATGCCCTCTCTGGCAAGGCTTGCTCCCTCTCGTGGCTCCTCAGGACAGCTCGACTCTTGCCACCAGCCCCAAGTTCACAACTCAGAATATGTGGCTTTTCGCAGTGTTGCCCTCGGACTGAGGAGTTCCATCCTCTCGCCAACCTCCAACCCCCACATATTTCTACTGCCATTTGAGGGGACCTGGGAATTATTAAGTGAACATAGAAACCTTGAATTCTGGAGTGTCCACCTGTGGATTCCCTGGGCCCTCTCCAGGACTTGTGGTTTTAGTTTGCAGCTTTGCTGGACTTCCCTGGCAGAAGGGGCTTTGGGGATCTTGGTGCCTCAGACCTTGTGATCCATTGGCACAGCAGCGGTGTGCAGGCCCCGATGAAGATAGTGCGT
|
CTGGGCTACAGAGCGAGACTGTCTCAAAAAGAAAAAAAAAATTCCAGGCCCATCTTGAACACCACCTCTTCCAGAAGCCCACTGTGATAGTGCAGTCAGATCCTGCCTTCCCTCCTCTGTCTCCTCCCAGGGAGCCTCAAATCCTAGACTCTTTTGGTGAAACACAGGGAGCATGAAGCTTCTCGTTATATGGAGACCTGCCTTGAATTCTAGCTTGTCCTTGACTTGGCCCATGATCTTAGGCTAATAAATGCCTTGACCTCGTTGAGCCTCAGTTTTCGTGCAAAAAAGCAGGTAATAATAAACCTTAGGGCAATAAGGGACGTGCTCTGTTCGGGCAATGCCTTCCCTGCTGAGTGGCGTGGCCCTGTGATTTTTGAATTTGGCTGATTCCTCTCATATGGCAGCGCAAGCCCCTCAGGACGTCTATATCCTTCCACCCAGCTCCGCCAGCCCTCAGGTGCTTAATGACTGTATTTACAGGCATCTAGCGCAGCCACGCAGCCCCGGAGCTGCATCACCTCTGGCTATGCAGTCTTTCACTTATCAGGAGGGTTAATGAGATGCAGGGTAGAAAGGTCTTGCCACTCGCCCGCCCGCTCGTGGAAGCCGAGTAGCTTGGTAACGACACCACGACTTCACGTTTAGTGCATTAGACGCGTAGACCCTTAGGGGAGGCAGAGCTTCCCGGTATCGCCGAGCGGGCCCTGAGGGCTGAGGCTGGGCACCCCTGCGCACCCCTGCTGAGTGCCCGGCCACCAGAAAGACAGATCCCCCACCTTTCCTTCTCCCTGACCCGGCGCGCTTCCTGGGGAACAAACTCTCCCTTACCCTCAGTGGGGCTGGGGCCTCAGTCTGCGACATACAGTGGGACTCCCATGTCTGCATGCCTGAGGTGGGCGGAAGGGGGCGGTGGGTGCTGGGAAGACATCCGTCCGCTTGCAGCTCCGCTGAGTCTCCAGCACCTGAAAAGCCGCGGCCGAGGCCTGAGGGACCAGCCCAGCCGAGATATCGGGGGCGGGGCAGCCCAATCCCAAACTGGCGGCTGGACCCGACTCCAACTCGTTCCTCCTAAGTCCGGGACAGATTGTCGGGAGGAGCTTGAACTGAGCTTCGGCTCCCGACTGGGCCTGGGCCCGGCCCCCACTGGTGCCACCTCCCTCCCTTCCTGGCCCGGCTCCTGGCCCACACTCGGCCCTGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCTCTGAGGCTCCTCCGGGCTCCAGGTTGGCGCAAACAAAGCCCTGATTGACTGCCCGGAGGGGCGGGCCTCGCTGCATGGCCGCCTCCTCCCCTCCCAGGCCGCCAGGGATTTGCCGGGAAGAGCGGGGGCAGGGGGAGACTCCCGGGGGTGCGCAGGACCGCGGGGGGCCGAGTCCTCGGGCTCGAGAAGATTGTGTCCACCCGCTGTCCGAGGCCCAGGCTGTCCCCTCAGGTCGTCCTCCTCAAGTCCAAGGAGGGACATGGGAGCTCCTGAGGGCAGGGTGGGGTTCCTCGCGGGCCAGCTGTCGTCCTAGGGTCCCCGGTGCCACCTCAGTTGCGGGCTGCTTGTGAGGAAGGAGGGTATGGGAGCAAAAAATAGGAGGGGTCTTCCCGAGGCTCGGGGTTGATCAGTGTCGGTTCTAGAGCCTGCGGGGAAAAGAGGGCAGGAGAACAGGATAGTTTGTGCTTCCTTTTTTCCATTTTAACTTTTCCTCTAACGGGCATCCGGGCAAGAACAGGGTTCAGTAGTTTGGGAAGGGAGCTGGGGGAGGCAGTGGCGGCTGGAGTAGGTAGGCGAGTAAAAGGAGGAGGAAGGGCTGGGGAGAAGAGCGAGGCTGTAGCGGCTGCCTGTTGAGGGAGGAAGAGGTGGGGGGTGTGGAGGAGGGGGAGGAGAGAGAGATGACATGGGGAGAGGAGGAGGGGGGTTGGACGTGGGAGGAGGAGGAGAGGGCTCGAGGGACCGTCTGTCGCGGGACGGGCTGGCCAGCTGGGGCGCGGAGCCTGGAGGAGGAGGCAGCGGCAGCAGCAGCCCTCCGAGCAGCAGCAGCTGCAGCAGCAGAAACAAGTACCAGCCACAAAGCGGCTCCTCTGGCCCAAGCAGCCACAGTCCCCCCGCCGCGATGGCGCTGCAAAGCCAGGCGAGCGAGGAAGCAAAGGGGCCCTGGCAGGAGGCAGACCAGGAACAGCAGGAGCCGGTGGGTAGCCCAGAGCCGGAGTCTGAGCCGGAGCCTGAGCCCGAGCCCGAGCCCGTGCCAGTGCCCCCGCCCGAGCCCCAGCCGGAGCCCCAGCCCCTACCGGACCCCGCACCCCTGCCGGAGCTGGAGTTCGAGTCCGAGCGGGTGCACGAACCCGAGCCCACGCCTACGGTAGAGACCCGCGGCACCGCGCGCGGCTTCCAGCCTCCCGAAGGTGGCTTCGGCTGGGTGGTGGTGTTCGCTGCCACCTGGTGCAACGGCTCCATCTTCGGCATCCATAACTCTGTCGGGATCCTCTACTCCATGCTGCTAGAGGAGGAAAAGGAAAAAAATCGCCAAGTGGAGTTCCAAGCAGGTGAGTGGCCCCGCACGCCCCACTTGGCATTTTGGGCAAGGTTGGCCGCTCCCGCTGCCACCGACCCCATACCTCCCGGTCCGAGGCGCCCCTCCAACGCGCCTCTCCGACTCCTCCCCTTACCCCTTACCCCTTGCCCCTTGCCCCTTTCCATGGCTCTCCTAGGGTGCGGGTTGCGGGGCTTTGGGCAGCTTGGACTGGGGAGACTAGGTGCAAGGCGTCCCGGGGGTACGAACTGGGACATTCATTGATCCTTGGCAAGCAATGGACTTTTTTTTGCCCTGGGACAAATCTAAATGCACCTTTCAGGTTTAAGGTACCTTTGCCCCTGTGTGCTGGGGGAAAATATTTGCAGGACTTTTTTTTTTTTTGGAGGTGGGGAGAAGTCATGAGGAGAGGAGAGAATTGAGAGGCGGGGCGGGCTCTGAGAGAAGCACTGTACCGCTGATCTCCGCAGCAGCCCCCCGGTTCCTTTGGGGAAACGGAGGTGTTTTCTGTTAAAAACACTTTAGGAATCCTGATGACTATGAGCGAAGAGTCAAACACATGGCAGGCGTGCGTGTCTGCAAGAGAGAAAGGGAGGGAGGGAGTTCGAGTCGGGGTGTGAGTGCGTCTCTGGCCGCCGCCGTTACGGCCCAGCTGGGCCCGGCAGTCCTCTGCCGCCCCGCGGGAGTGAATGGATCTCCGTGCCCTATGAGCCGAGCCCCAGAGCGGGCGGGGAGGCGGTCTCCGCAGTCTCCTGCCAGAGAGGCGTGAGGCCGCAGGCAGGCTGGGCCCTGCTGCTCACTCCGCACCGCCCCCAACTTCAGCCCTGCCTTCCCCGGCAACCCGCGCCTCTCTGCTACCGGTGGGGTGCCTCGTTCGGCCTACAGCCTGAGTGCCAGACCCGCCATTCCAGCTTTCCCCTGGAGCTGACTTGATCTCAGACAGAGTTGGGGGGCATAGCCCTCGCTTTCCAGGCCAGTGGACGCAAGACCCCAGGCGTGTGCGCTCTTCTCATTGAGGCCGCCTGTGAGCTGGGAGAAGTCAGAGGAACCATCTCGCTTTCCCAGCAAAGCCGCTGGCGAAATCCCTCAGCAGTTCTGGTGAGGGATTCAGACGAAGACGGGGGATTGGGATGCCCTCTCTGGCAAGGCTTGCTCCCTCTCGTGGCTCCTCAGGACAGCTCGACTCTTGCCACCAGCCCCAAGTTCACAACTCAGAATATGTGGCTTTTCGCAGTGTTGCCCTCGGACTGAGGAGTTCCATCCTCTCGCCAACCTCCAACCCCCACATATTTCTACTGCCATTTGAGGGGACCTGGGAATTATTAAGTGAACATAGAAACCTTGAATTCTGGAGTGTCCACCTGTGGATTCCCTGGGCCCTCTCCAGGACTTGTGGTTTTAGTTTGCAGCTTTGCTGGACTTCCCTGGCAGAAGGGGCTTTGGGGATCTTGGTGCCTCAGACCTTGTGATCCATTGGCACAGCAGCGGTGTGCAGGCCCCGATGAAGATAGTGCGTNNNNNN
|
benign
| 336,203 |
Does the genetic variant at chromosome X, position 74421733, impacting gene SLC16A2 (solute carrier family 16 member 2), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['Allan-Herndon-Dudley_syndrome', 'Spastic_paraplegia']
|
TAGCTTGTCCTTGACTTGGCCCATGATCTTAGGCTAATAAATGCCTTGACCTCGTTGAGCCTCAGTTTTCGTGCAAAAAAGCAGGTAATAATAAACCTTAGGGCAATAAGGGACGTGCTCTGTTCGGGCAATGCCTTCCCTGCTGAGTGGCGTGGCCCTGTGATTTTTGAATTTGGCTGATTCCTCTCATATGGCAGCGCAAGCCCCTCAGGACGTCTATATCCTTCCACCCAGCTCCGCCAGCCCTCAGGTGCTTAATGACTGTATTTACAGGCATCTAGCGCAGCCACGCAGCCCCGGAGCTGCATCACCTCTGGCTATGCAGTCTTTCACTTATCAGGAGGGTTAATGAGATGCAGGGTAGAAAGGTCTTGCCACTCGCCCGCCCGCTCGTGGAAGCCGAGTAGCTTGGTAACGACACCACGACTTCACGTTTAGTGCATTAGACGCGTAGACCCTTAGGGGAGGCAGAGCTTCCCGGTATCGCCGAGCGGGCCCTGAGGGCTGAGGCTGGGCACCCCTGCGCACCCCTGCTGAGTGCCCGGCCACCAGAAAGACAGATCCCCCACCTTTCCTTCTCCCTGACCCGGCGCGCTTCCTGGGGAACAAACTCTCCCTTACCCTCAGTGGGGCTGGGGCCTCAGTCTGCGACATACAGTGGGACTCCCATGTCTGCATGCCTGAGGTGGGCGGAAGGGGGCGGTGGGTGCTGGGAAGACATCCGTCCGCTTGCAGCTCCGCTGAGTCTCCAGCACCTGAAAAGCCGCGGCCGAGGCCTGAGGGACCAGCCCAGCCGAGATATCGGGGGCGGGGCAGCCCAATCCCAAACTGGCGGCTGGACCCGACTCCAACTCGTTCCTCCTAAGTCCGGGACAGATTGTCGGGAGGAGCTTGAACTGAGCTTCGGCTCCCGACTGGGCCTGGGCCCGGCCCCCACTGGTGCCACCTCCCTCCCTTCCTGGCCCGGCTCCTGGCCCACACTCGGCCCTGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCTCTGAGGCTCCTCCGGGCTCCAGGTTGGCGCAAACAAAGCCCTGATTGACTGCCCGGAGGGGCGGGCCTCGCTGCATGGCCGCCTCCTCCCCTCCCAGGCCGCCAGGGATTTGCCGGGAAGAGCGGGGGCAGGGGGAGACTCCCGGGGGTGCGCAGGACCGCGGGGGGCCGAGTCCTCGGGCTCGAGAAGATTGTGTCCACCCGCTGTCCGAGGCCCAGGCTGTCCCCTCAGGTCGTCCTCCTCAAGTCCAAGGAGGGACATGGGAGCTCCTGAGGGCAGGGTGGGGTTCCTCGCGGGCCAGCTGTCGTCCTAGGGTCCCCGGTGCCACCTCAGTTGCGGGCTGCTTGTGAGGAAGGAGGGTATGGGAGCAAAAAATAGGAGGGGTCTTCCCGAGGCTCGGGGTTGATCAGTGTCGGTTCTAGAGCCTGCGGGGAAAAGAGGGCAGGAGAACAGGATAGTTTGTGCTTCCTTTTTTCCATTTTAACTTTTCCTCTAACGGGCATCCGGGCAAGAACAGGGTTCAGTAGTTTGGGAAGGGAGCTGGGGGAGGCAGTGGCGGCTGGAGTAGGTAGGCGAGTAAAAGGAGGAGGAAGGGCTGGGGAGAAGAGCGAGGCTGTAGCGGCTGCCTGTTGAGGGAGGAAGAGGTGGGGGGTGTGGAGGAGGGGGAGGAGAGAGAGATGACATGGGGAGAGGAGGAGGGGGGTTGGACGTGGGAGGAGGAGGAGAGGGCTCGAGGGACCGTCTGTCGCGGGACGGGCTGGCCAGCTGGGGCGCGGAGCCTGGAGGAGGAGGCAGCGGCAGCGGCAGCAGCAGCCCTCCGAGCAGCAGCAGCTGCAGCAGCAGAAACAAGTACCAGCCACAAAGCGGCTCCTCTGGCCCAAGCAGCCACAGTCCCCCCGCCGCGATGGCGCTGCAAAGCCAGGCGAGCGAGGAAGCAAAGGGGCCCTGGCAGGAGGCAGACCAGGAACAGCAGGAGCCGGTGGGTAGCCCAGAGCCGGAGTCTGAGCCGGAGCCTGAGCCCGAGCCCGAGCCCGTGCCAGTGCCCCCGCCCGAGCCCCAGCCGGAGCCCCAGCCCCTACCGGACCCCGCACCCCTGCCGGAGCTGGAGTTCGAGTCCGAGCGGGTGCACGAACCCGAGCCCACGCCTACGGTAGAGACCCGCGGCACCGCGCGCGGCTTCCAGCCTCCCGAAGGTGGCTTCGGCTGGGTGGTGGTGTTCGCTGCCACCTGGTGCAACGGCTCCATCTTCGGCATCCATAACTCTGTCGGGATCCTCTACTCCATGCTGCTAGAGGAGGAAAAGGAAAAAAATCGCCAAGTGGAGTTCCAAGCAGGTGAGTGGCCCCGCACGCCCCACTTGGCATTTTGGGCAAGGTTGGCCGCTCCCGCTGCCACCGACCCCATACCTCCCGGTCCGAGGCGCCCCTCCAACGCGCCTCTCCGACTCCTCCCCTTACCCCTTACCCCTTGCCCCTTGCCCCTTTCCATGGCTCTCCTAGGGTGCGGGTTGCGGGGCTTTGGGCAGCTTGGACTGGGGAGACTAGGTGCAAGGCGTCCCGGGGGTACGAACTGGGACATTCATTGATCCTTGGCAAGCAATGGACTTTTTTTTGCCCTGGGACAAATCTAAATGCACCTTTCAGGTTTAAGGTACCTTTGCCCCTGTGTGCTGGGGGAAAATATTTGCAGGACTTTTTTTTTTTTTGGAGGTGGGGAGAAGTCATGAGGAGAGGAGAGAATTGAGAGGCGGGGCGGGCTCTGAGAGAAGCACTGTACCGCTGATCTCCGCAGCAGCCCCCCGGTTCCTTTGGGGAAACGGAGGTGTTTTCTGTTAAAAACACTTTAGGAATCCTGATGACTATGAGCGAAGAGTCAAACACATGGCAGGCGTGCGTGTCTGCAAGAGAGAAAGGGAGGGAGGGAGTTCGAGTCGGGGTGTGAGTGCGTCTCTGGCCGCCGCCGTTACGGCCCAGCTGGGCCCGGCAGTCCTCTGCCGCCCCGCGGGAGTGAATGGATCTCCGTGCCCTATGAGCCGAGCCCCAGAGCGGGCGGGGAGGCGGTCTCCGCAGTCTCCTGCCAGAGAGGCGTGAGGCCGCAGGCAGGCTGGGCCCTGCTGCTCACTCCGCACCGCCCCCAACTTCAGCCCTGCCTTCCCCGGCAACCCGCGCCTCTCTGCTACCGGTGGGGTGCCTCGTTCGGCCTACAGCCTGAGTGCCAGACCCGCCATTCCAGCTTTCCCCTGGAGCTGACTTGATCTCAGACAGAGTTGGGGGGCATAGCCCTCGCTTTCCAGGCCAGTGGACGCAAGACCCCAGGCGTGTGCGCTCTTCTCATTGAGGCCGCCTGTGAGCTGGGAGAAGTCAGAGGAACCATCTCGCTTTCCCAGCAAAGCCGCTGGCGAAATCCCTCAGCAGTTCTGGTGAGGGATTCAGACGAAGACGGGGGATTGGGATGCCCTCTCTGGCAAGGCTTGCTCCCTCTCGTGGCTCCTCAGGACAGCTCGACTCTTGCCACCAGCCCCAAGTTCACAACTCAGAATATGTGGCTTTTCGCAGTGTTGCCCTCGGACTGAGGAGTTCCATCCTCTCGCCAACCTCCAACCCCCACATATTTCTACTGCCATTTGAGGGGACCTGGGAATTATTAAGTGAACATAGAAACCTTGAATTCTGGAGTGTCCACCTGTGGATTCCCTGGGCCCTCTCCAGGACTTGTGGTTTTAGTTTGCAGCTTTGCTGGACTTCCCTGGCAGAAGGGGCTTTGGGGATCTTGGTGCCTCAGACCTTGTGATCCATTGGCACAGCAGCGGTGTGCAGGCCCCGATGAAGATAGTGCGTCAGTGGTTGTCAAAGGAAGTCTCTTGACTACCCAGGCCCACTGTGATGCTGGAATGGAGGGGTCCTGGGACAGTGTAGAGCAACTTCTGCGGGGAAGATGGCTGCCACAGTCACCCCTGGGACCACCTTTTTCCCTGCTTTGATGCAGTTCAGGGGCTCCTGGGAAAGCAGGCAGTGTAGGGACTCATGCTGTTGCCTAGGTTACCTCCA
|
TAGCTTGTCCTTGACTTGGCCCATGATCTTAGGCTAATAAATGCCTTGACCTCGTTGAGCCTCAGTTTTCGTGCAAAAAAGCAGGTAATAATAAACCTTAGGGCAATAAGGGACGTGCTCTGTTCGGGCAATGCCTTCCCTGCTGAGTGGCGTGGCCCTGTGATTTTTGAATTTGGCTGATTCCTCTCATATGGCAGCGCAAGCCCCTCAGGACGTCTATATCCTTCCACCCAGCTCCGCCAGCCCTCAGGTGCTTAATGACTGTATTTACAGGCATCTAGCGCAGCCACGCAGCCCCGGAGCTGCATCACCTCTGGCTATGCAGTCTTTCACTTATCAGGAGGGTTAATGAGATGCAGGGTAGAAAGGTCTTGCCACTCGCCCGCCCGCTCGTGGAAGCCGAGTAGCTTGGTAACGACACCACGACTTCACGTTTAGTGCATTAGACGCGTAGACCCTTAGGGGAGGCAGAGCTTCCCGGTATCGCCGAGCGGGCCCTGAGGGCTGAGGCTGGGCACCCCTGCGCACCCCTGCTGAGTGCCCGGCCACCAGAAAGACAGATCCCCCACCTTTCCTTCTCCCTGACCCGGCGCGCTTCCTGGGGAACAAACTCTCCCTTACCCTCAGTGGGGCTGGGGCCTCAGTCTGCGACATACAGTGGGACTCCCATGTCTGCATGCCTGAGGTGGGCGGAAGGGGGCGGTGGGTGCTGGGAAGACATCCGTCCGCTTGCAGCTCCGCTGAGTCTCCAGCACCTGAAAAGCCGCGGCCGAGGCCTGAGGGACCAGCCCAGCCGAGATATCGGGGGCGGGGCAGCCCAATCCCAAACTGGCGGCTGGACCCGACTCCAACTCGTTCCTCCTAAGTCCGGGACAGATTGTCGGGAGGAGCTTGAACTGAGCTTCGGCTCCCGACTGGGCCTGGGCCCGGCCCCCACTGGTGCCACCTCCCTCCCTTCCTGGCCCGGCTCCTGGCCCACACTCGGCCCTGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCTCTGAGGCTCCTCCGGGCTCCAGGTTGGCGCAAACAAAGCCCTGATTGACTGCCCGGAGGGGCGGGCCTCGCTGCATGGCCGCCTCCTCCCCTCCCAGGCCGCCAGGGATTTGCCGGGAAGAGCGGGGGCAGGGGGAGACTCCCGGGGGTGCGCAGGACCGCGGGGGGCCGAGTCCTCGGGCTCGAGAAGATTGTGTCCACCCGCTGTCCGAGGCCCAGGCTGTCCCCTCAGGTCGTCCTCCTCAAGTCCAAGGAGGGACATGGGAGCTCCTGAGGGCAGGGTGGGGTTCCTCGCGGGCCAGCTGTCGTCCTAGGGTCCCCGGTGCCACCTCAGTTGCGGGCTGCTTGTGAGGAAGGAGGGTATGGGAGCAAAAAATAGGAGGGGTCTTCCCGAGGCTCGGGGTTGATCAGTGTCGGTTCTAGAGCCTGCGGGGAAAAGAGGGCAGGAGAACAGGATAGTTTGTGCTTCCTTTTTTCCATTTTAACTTTTCCTCTAACGGGCATCCGGGCAAGAACAGGGTTCAGTAGTTTGGGAAGGGAGCTGGGGGAGGCAGTGGCGGCTGGAGTAGGTAGGCGAGTAAAAGGAGGAGGAAGGGCTGGGGAGAAGAGCGAGGCTGTAGCGGCTGCCTGTTGAGGGAGGAAGAGGTGGGGGGTGTGGAGGAGGGGGAGGAGAGAGAGATGACATGGGGAGAGGAGGAGGGGGGTTGGACGTGGGAGGAGGAGGAGAGGGCTCGAGGGACCGTCTGTCGCGGGACGGGCTGGCCAGCTGGGGCGCGGAGCCTGGAGGAGGAGGCAGCGGCAGCGGCAGCAGCAGCCCTCCGAGCAGCAGCAGCTGCAGCAGCAGAAACAAGTACCAGCCACAAAGCGGCTCCTCTGGCCCAAGCAGCCACAGTCCCCCCGCCGCGATGGCGCTGCAAAGCCAGGCGAGCGAGGAAGCAAAGGGGCCCTGGCAGGAGGCAGACCAGGAACAGCAGGAGCCGGTGGGTAGCCCAGAGCCGGAGTTCTGAGCCGGAGCCTGAGCCCGAGCCCGAGCCCGTGCCAGTGCCCCCGCCCGAGCCCCAGCCGGAGCCCCAGCCCCTACCGGACCCCGCACCCCTGCCGGAGCTGGAGTTCGAGTCCGAGCGGGTGCACGAACCCGAGCCCACGCCTACGGTAGAGACCCGCGGCACCGCGCGCGGCTTCCAGCCTCCCGAAGGTGGCTTCGGCTGGGTGGTGGTGTTCGCTGCCACCTGGTGCAACGGCTCCATCTTCGGCATCCATAACTCTGTCGGGATCCTCTACTCCATGCTGCTAGAGGAGGAAAAGGAAAAAAATCGCCAAGTGGAGTTCCAAGCAGGTGAGTGGCCCCGCACGCCCCACTTGGCATTTTGGGCAAGGTTGGCCGCTCCCGCTGCCACCGACCCCATACCTCCCGGTCCGAGGCGCCCCTCCAACGCGCCTCTCCGACTCCTCCCCTTACCCCTTACCCCTTGCCCCTTGCCCCTTTCCATGGCTCTCCTAGGGTGCGGGTTGCGGGGCTTTGGGCAGCTTGGACTGGGGAGACTAGGTGCAAGGCGTCCCGGGGGTACGAACTGGGACATTCATTGATCCTTGGCAAGCAATGGACTTTTTTTTGCCCTGGGACAAATCTAAATGCACCTTTCAGGTTTAAGGTACCTTTGCCCCTGTGTGCTGGGGGAAAATATTTGCAGGACTTTTTTTTTTTTTGGAGGTGGGGAGAAGTCATGAGGAGAGGAGAGAATTGAGAGGCGGGGCGGGCTCTGAGAGAAGCACTGTACCGCTGATCTCCGCAGCAGCCCCCCGGTTCCTTTGGGGAAACGGAGGTGTTTTCTGTTAAAAACACTTTAGGAATCCTGATGACTATGAGCGAAGAGTCAAACACATGGCAGGCGTGCGTGTCTGCAAGAGAGAAAGGGAGGGAGGGAGTTCGAGTCGGGGTGTGAGTGCGTCTCTGGCCGCCGCCGTTACGGCCCAGCTGGGCCCGGCAGTCCTCTGCCGCCCCGCGGGAGTGAATGGATCTCCGTGCCCTATGAGCCGAGCCCCAGAGCGGGCGGGGAGGCGGTCTCCGCAGTCTCCTGCCAGAGAGGCGTGAGGCCGCAGGCAGGCTGGGCCCTGCTGCTCACTCCGCACCGCCCCCAACTTCAGCCCTGCCTTCCCCGGCAACCCGCGCCTCTCTGCTACCGGTGGGGTGCCTCGTTCGGCCTACAGCCTGAGTGCCAGACCCGCCATTCCAGCTTTCCCCTGGAGCTGACTTGATCTCAGACAGAGTTGGGGGGCATAGCCCTCGCTTTCCAGGCCAGTGGACGCAAGACCCCAGGCGTGTGCGCTCTTCTCATTGAGGCCGCCTGTGAGCTGGGAGAAGTCAGAGGAACCATCTCGCTTTCCCAGCAAAGCCGCTGGCGAAATCCCTCAGCAGTTCTGGTGAGGGATTCAGACGAAGACGGGGGATTGGGATGCCCTCTCTGGCAAGGCTTGCTCCCTCTCGTGGCTCCTCAGGACAGCTCGACTCTTGCCACCAGCCCCAAGTTCACAACTCAGAATATGTGGCTTTTCGCAGTGTTGCCCTCGGACTGAGGAGTTCCATCCTCTCGCCAACCTCCAACCCCCACATATTTCTACTGCCATTTGAGGGGACCTGGGAATTATTAAGTGAACATAGAAACCTTGAATTCTGGAGTGTCCACCTGTGGATTCCCTGGGCCCTCTCCAGGACTTGTGGTTTTAGTTTGCAGCTTTGCTGGACTTCCCTGGCAGAAGGGGCTTTGGGGATCTTGGTGCCTCAGACCTTGTGATCCATTGGCACAGCAGCGGTGTGCAGGCCCCGATGAAGATAGTGCGTCAGTGGTTGTCAAAGGAAGTCTCTTGACTACCCAGGCCCACTGTGATGCTGGAATGGAGGGGTCCTGGGACAGTGTAGAGCAACTTCTGCGGGGAAGATGGCTGCCACAGTCACCCCTGGGACCACCTTTTTCCCTGCTTTGATGCAGTTCAGGGGCTCCTGGGAAAGCAGGCAGTGTAGGGACTCATGCTGTTGCCTAGGTTACCTCC
|
pathogenic
| 336,207 |
Variant at chromosome position 74421993, chromosome X, gene SLC16A2 (solute carrier family 16 member 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Inborn_genetic_diseases', 'Spastic_paraplegia']
|
ACTGTATTTACAGGCATCTAGCGCAGCCACGCAGCCCCGGAGCTGCATCACCTCTGGCTATGCAGTCTTTCACTTATCAGGAGGGTTAATGAGATGCAGGGTAGAAAGGTCTTGCCACTCGCCCGCCCGCTCGTGGAAGCCGAGTAGCTTGGTAACGACACCACGACTTCACGTTTAGTGCATTAGACGCGTAGACCCTTAGGGGAGGCAGAGCTTCCCGGTATCGCCGAGCGGGCCCTGAGGGCTGAGGCTGGGCACCCCTGCGCACCCCTGCTGAGTGCCCGGCCACCAGAAAGACAGATCCCCCACCTTTCCTTCTCCCTGACCCGGCGCGCTTCCTGGGGAACAAACTCTCCCTTACCCTCAGTGGGGCTGGGGCCTCAGTCTGCGACATACAGTGGGACTCCCATGTCTGCATGCCTGAGGTGGGCGGAAGGGGGCGGTGGGTGCTGGGAAGACATCCGTCCGCTTGCAGCTCCGCTGAGTCTCCAGCACCTGAAAAGCCGCGGCCGAGGCCTGAGGGACCAGCCCAGCCGAGATATCGGGGGCGGGGCAGCCCAATCCCAAACTGGCGGCTGGACCCGACTCCAACTCGTTCCTCCTAAGTCCGGGACAGATTGTCGGGAGGAGCTTGAACTGAGCTTCGGCTCCCGACTGGGCCTGGGCCCGGCCCCCACTGGTGCCACCTCCCTCCCTTCCTGGCCCGGCTCCTGGCCCACACTCGGCCCTGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCTCTGAGGCTCCTCCGGGCTCCAGGTTGGCGCAAACAAAGCCCTGATTGACTGCCCGGAGGGGCGGGCCTCGCTGCATGGCCGCCTCCTCCCCTCCCAGGCCGCCAGGGATTTGCCGGGAAGAGCGGGGGCAGGGGGAGACTCCCGGGGGTGCGCAGGACCGCGGGGGGCCGAGTCCTCGGGCTCGAGAAGATTGTGTCCACCCGCTGTCCGAGGCCCAGGCTGTCCCCTCAGGTCGTCCTCCTCAAGTCCAAGGAGGGACATGGGAGCTCCTGAGGGCAGGGTGGGGTTCCTCGCGGGCCAGCTGTCGTCCTAGGGTCCCCGGTGCCACCTCAGTTGCGGGCTGCTTGTGAGGAAGGAGGGTATGGGAGCAAAAAATAGGAGGGGTCTTCCCGAGGCTCGGGGTTGATCAGTGTCGGTTCTAGAGCCTGCGGGGAAAAGAGGGCAGGAGAACAGGATAGTTTGTGCTTCCTTTTTTCCATTTTAACTTTTCCTCTAACGGGCATCCGGGCAAGAACAGGGTTCAGTAGTTTGGGAAGGGAGCTGGGGGAGGCAGTGGCGGCTGGAGTAGGTAGGCGAGTAAAAGGAGGAGGAAGGGCTGGGGAGAAGAGCGAGGCTGTAGCGGCTGCCTGTTGAGGGAGGAAGAGGTGGGGGGTGTGGAGGAGGGGGAGGAGAGAGAGATGACATGGGGAGAGGAGGAGGGGGGTTGGACGTGGGAGGAGGAGGAGAGGGCTCGAGGGACCGTCTGTCGCGGGACGGGCTGGCCAGCTGGGGCGCGGAGCCTGGAGGAGGAGGCAGCGGCAGCGGCAGCAGCAGCCCTCCGAGCAGCAGCAGCTGCAGCAGCAGAAACAAGTACCAGCCACAAAGCGGCTCCTCTGGCCCAAGCAGCCACAGTCCCCCCGCCGCGATGGCGCTGCAAAGCCAGGCGAGCGAGGAAGCAAAGGGGCCCTGGCAGGAGGCAGACCAGGAACAGCAGGAGCCGGTGGGTAGCCCAGAGCCGGAGTCTGAGCCGGAGCCTGAGCCCGAGCCCGAGCCCGTGCCAGTGCCCCCGCCCGAGCCCCAGCCGGAGCCCCAGCCCCTACCGGACCCCGCACCCCTGCCGGAGCTGGAGTTCGAGTCCGAGCGGGTGCACGAACCCGAGCCCACGCCTACGGTAGAGACCCGCGGCACCGCGCGCGGCTTCCAGCCTCCCGAAGGTGGCTTCGGCTGGGTGGTGGTGTTCGCTGCCACCTGGTGCAACGGCTCCATCTTCGGCATCCATAACTCTGTCGGGATCCTCTACTCCATGCTGCTAGAGGAGGAAAAGGAAAAAAATCGCCAAGTGGAGTTCCAAGCAGGTGAGTGGCCCCGCACGCCCCACTTGGCATTTTGGGCAAGGTTGGCCGCTCCCGCTGCCACCGACCCCATACCTCCCGGTCCGAGGCGCCCCTCCAACGCGCCTCTCCGACTCCTCCCCTTACCCCTTACCCCTTGCCCCTTGCCCCTTTCCATGGCTCTCCTAGGGTGCGGGTTGCGGGGCTTTGGGCAGCTTGGACTGGGGAGACTAGGTGCAAGGCGTCCCGGGGGTACGAACTGGGACATTCATTGATCCTTGGCAAGCAATGGACTTTTTTTTGCCCTGGGACAAATCTAAATGCACCTTTCAGGTTTAAGGTACCTTTGCCCCTGTGTGCTGGGGGAAAATATTTGCAGGACTTTTTTTTTTTTTGGAGGTGGGGAGAAGTCATGAGGAGAGGAGAGAATTGAGAGGCGGGGCGGGCTCTGAGAGAAGCACTGTACCGCTGATCTCCGCAGCAGCCCCCCGGTTCCTTTGGGGAAACGGAGGTGTTTTCTGTTAAAAACACTTTAGGAATCCTGATGACTATGAGCGAAGAGTCAAACACATGGCAGGCGTGCGTGTCTGCAAGAGAGAAAGGGAGGGAGGGAGTTCGAGTCGGGGTGTGAGTGCGTCTCTGGCCGCCGCCGTTACGGCCCAGCTGGGCCCGGCAGTCCTCTGCCGCCCCGCGGGAGTGAATGGATCTCCGTGCCCTATGAGCCGAGCCCCAGAGCGGGCGGGGAGGCGGTCTCCGCAGTCTCCTGCCAGAGAGGCGTGAGGCCGCAGGCAGGCTGGGCCCTGCTGCTCACTCCGCACCGCCCCCAACTTCAGCCCTGCCTTCCCCGGCAACCCGCGCCTCTCTGCTACCGGTGGGGTGCCTCGTTCGGCCTACAGCCTGAGTGCCAGACCCGCCATTCCAGCTTTCCCCTGGAGCTGACTTGATCTCAGACAGAGTTGGGGGGCATAGCCCTCGCTTTCCAGGCCAGTGGACGCAAGACCCCAGGCGTGTGCGCTCTTCTCATTGAGGCCGCCTGTGAGCTGGGAGAAGTCAGAGGAACCATCTCGCTTTCCCAGCAAAGCCGCTGGCGAAATCCCTCAGCAGTTCTGGTGAGGGATTCAGACGAAGACGGGGGATTGGGATGCCCTCTCTGGCAAGGCTTGCTCCCTCTCGTGGCTCCTCAGGACAGCTCGACTCTTGCCACCAGCCCCAAGTTCACAACTCAGAATATGTGGCTTTTCGCAGTGTTGCCCTCGGACTGAGGAGTTCCATCCTCTCGCCAACCTCCAACCCCCACATATTTCTACTGCCATTTGAGGGGACCTGGGAATTATTAAGTGAACATAGAAACCTTGAATTCTGGAGTGTCCACCTGTGGATTCCCTGGGCCCTCTCCAGGACTTGTGGTTTTAGTTTGCAGCTTTGCTGGACTTCCCTGGCAGAAGGGGCTTTGGGGATCTTGGTGCCTCAGACCTTGTGATCCATTGGCACAGCAGCGGTGTGCAGGCCCCGATGAAGATAGTGCGTCAGTGGTTGTCAAAGGAAGTCTCTTGACTACCCAGGCCCACTGTGATGCTGGAATGGAGGGGTCCTGGGACAGTGTAGAGCAACTTCTGCGGGGAAGATGGCTGCCACAGTCACCCCTGGGACCACCTTTTTCCCTGCTTTGATGCAGTTCAGGGGCTCCTGGGAAAGCAGGCAGTGTAGGGACTCATGCTGTTGCCTAGGTTACCTCCAAGGGCACCTGCTGAGCATTGCCCTGTGGTTGAAGGCAGGCTGTTGGCCTTCAGGATCAGTGAGTGGCAAAGTCTGAGTGAAACTTGATGAGAAGCAGTAGAGGCTAGGCTGAAGCTAGGCCCTGGCATTTATATGGTGTGAGGAGGCCTAGAGCTGTGATCTTAGGAGTGTATAATAAAACTTGGAAAAACCACTATTTTACCAGGAAGAGGCTCACTGCTGGGGAACAGACTTCAAAGTAGGTGATCATAGGGGACTCA
|
ACTGTATTTACAGGCATCTAGCGCAGCCACGCAGCCCCGGAGCTGCATCACCTCTGGCTATGCAGTCTTTCACTTATCAGGAGGGTTAATGAGATGCAGGGTAGAAAGGTCTTGCCACTCGCCCGCCCGCTCGTGGAAGCCGAGTAGCTTGGTAACGACACCACGACTTCACGTTTAGTGCATTAGACGCGTAGACCCTTAGGGGAGGCAGAGCTTCCCGGTATCGCCGAGCGGGCCCTGAGGGCTGAGGCTGGGCACCCCTGCGCACCCCTGCTGAGTGCCCGGCCACCAGAAAGACAGATCCCCCACCTTTCCTTCTCCCTGACCCGGCGCGCTTCCTGGGGAACAAACTCTCCCTTACCCTCAGTGGGGCTGGGGCCTCAGTCTGCGACATACAGTGGGACTCCCATGTCTGCATGCCTGAGGTGGGCGGAAGGGGGCGGTGGGTGCTGGGAAGACATCCGTCCGCTTGCAGCTCCGCTGAGTCTCCAGCACCTGAAAAGCCGCGGCCGAGGCCTGAGGGACCAGCCCAGCCGAGATATCGGGGGCGGGGCAGCCCAATCCCAAACTGGCGGCTGGACCCGACTCCAACTCGTTCCTCCTAAGTCCGGGACAGATTGTCGGGAGGAGCTTGAACTGAGCTTCGGCTCCCGACTGGGCCTGGGCCCGGCCCCCACTGGTGCCACCTCCCTCCCTTCCTGGCCCGGCTCCTGGCCCACACTCGGCCCTGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCTCTGAGGCTCCTCCGGGCTCCAGGTTGGCGCAAACAAAGCCCTGATTGACTGCCCGGAGGGGCGGGCCTCGCTGCATGGCCGCCTCCTCCCCTCCCAGGCCGCCAGGGATTTGCCGGGAAGAGCGGGGGCAGGGGGAGACTCCCGGGGGTGCGCAGGACCGCGGGGGGCCGAGTCCTCGGGCTCGAGAAGATTGTGTCCACCCGCTGTCCGAGGCCCAGGCTGTCCCCTCAGGTCGTCCTCCTCAAGTCCAAGGAGGGACATGGGAGCTCCTGAGGGCAGGGTGGGGTTCCTCGCGGGCCAGCTGTCGTCCTAGGGTCCCCGGTGCCACCTCAGTTGCGGGCTGCTTGTGAGGAAGGAGGGTATGGGAGCAAAAAATAGGAGGGGTCTTCCCGAGGCTCGGGGTTGATCAGTGTCGGTTCTAGAGCCTGCGGGGAAAAGAGGGCAGGAGAACAGGATAGTTTGTGCTTCCTTTTTTCCATTTTAACTTTTCCTCTAACGGGCATCCGGGCAAGAACAGGGTTCAGTAGTTTGGGAAGGGAGCTGGGGGAGGCAGTGGCGGCTGGAGTAGGTAGGCGAGTAAAAGGAGGAGGAAGGGCTGGGGAGAAGAGCGAGGCTGTAGCGGCTGCCTGTTGAGGGAGGAAGAGGTGGGGGGTGTGGAGGAGGGGGAGGAGAGAGAGATGACATGGGGAGAGGAGGAGGGGGGTTGGACGTGGGAGGAGGAGGAGAGGGCTCGAGGGACCGTCTGTCGCGGGACGGGCTGGCCAGCTGGGGCGCGGAGCCTGGAGGAGGAGGCAGCGGCAGCGGCAGCAGCAGCCCTCCGAGCAGCAGCAGCTGCAGCAGCAGAAACAAGTACCAGCCACAAAGCGGCTCCTCTGGCCCAAGCAGCCACAGTCCCCCCGCCGCGATGGCGCTGCAAAGCCAGGCGAGCGAGGAAGCAAAGGGGCCCTGGCAGGAGGCAGACCAGGAACAGCAGGAGCCGGTGGGTAGCCCAGAGCCGGAGTCTGAGCCGGAGCCTGAGCCCGAGCCCGAGCCCGTGCCAGTGCCCCCGCCCGAGCCCCAGCCGGAGCCCCAGCCCCTACCGGACCCCGCACCCCTGCCGGAGCTGGAGTTCGAGTCCGAGCGGGTGCACGAACCCGAGCCCACGCCTACGGTAGAGACCCGCGGCACCGCGCGCGGCTTCCAGCCTCCCGAAGGTGGCTTCGGCTGGGTGGTGGTGTTCGCTGCCACCTGGTGCAACGGCTCCATCTTCGGCATCCATAACTGTCGGGATCCTCTACTCCATGCTGCTAGAGGAGGAAAAGGAAAAAAATCGCCAAGTGGAGTTCCAAGCAGGTGAGTGGCCCCGCACGCCCCACTTGGCATTTTGGGCAAGGTTGGCCGCTCCCGCTGCCACCGACCCCATACCTCCCGGTCCGAGGCGCCCCTCCAACGCGCCTCTCCGACTCCTCCCCTTACCCCTTACCCCTTGCCCCTTGCCCCTTTCCATGGCTCTCCTAGGGTGCGGGTTGCGGGGCTTTGGGCAGCTTGGACTGGGGAGACTAGGTGCAAGGCGTCCCGGGGGTACGAACTGGGACATTCATTGATCCTTGGCAAGCAATGGACTTTTTTTTGCCCTGGGACAAATCTAAATGCACCTTTCAGGTTTAAGGTACCTTTGCCCCTGTGTGCTGGGGGAAAATATTTGCAGGACTTTTTTTTTTTTTGGAGGTGGGGAGAAGTCATGAGGAGAGGAGAGAATTGAGAGGCGGGGCGGGCTCTGAGAGAAGCACTGTACCGCTGATCTCCGCAGCAGCCCCCCGGTTCCTTTGGGGAAACGGAGGTGTTTTCTGTTAAAAACACTTTAGGAATCCTGATGACTATGAGCGAAGAGTCAAACACATGGCAGGCGTGCGTGTCTGCAAGAGAGAAAGGGAGGGAGGGAGTTCGAGTCGGGGTGTGAGTGCGTCTCTGGCCGCCGCCGTTACGGCCCAGCTGGGCCCGGCAGTCCTCTGCCGCCCCGCGGGAGTGAATGGATCTCCGTGCCCTATGAGCCGAGCCCCAGAGCGGGCGGGGAGGCGGTCTCCGCAGTCTCCTGCCAGAGAGGCGTGAGGCCGCAGGCAGGCTGGGCCCTGCTGCTCACTCCGCACCGCCCCCAACTTCAGCCCTGCCTTCCCCGGCAACCCGCGCCTCTCTGCTACCGGTGGGGTGCCTCGTTCGGCCTACAGCCTGAGTGCCAGACCCGCCATTCCAGCTTTCCCCTGGAGCTGACTTGATCTCAGACAGAGTTGGGGGGCATAGCCCTCGCTTTCCAGGCCAGTGGACGCAAGACCCCAGGCGTGTGCGCTCTTCTCATTGAGGCCGCCTGTGAGCTGGGAGAAGTCAGAGGAACCATCTCGCTTTCCCAGCAAAGCCGCTGGCGAAATCCCTCAGCAGTTCTGGTGAGGGATTCAGACGAAGACGGGGGATTGGGATGCCCTCTCTGGCAAGGCTTGCTCCCTCTCGTGGCTCCTCAGGACAGCTCGACTCTTGCCACCAGCCCCAAGTTCACAACTCAGAATATGTGGCTTTTCGCAGTGTTGCCCTCGGACTGAGGAGTTCCATCCTCTCGCCAACCTCCAACCCCCACATATTTCTACTGCCATTTGAGGGGACCTGGGAATTATTAAGTGAACATAGAAACCTTGAATTCTGGAGTGTCCACCTGTGGATTCCCTGGGCCCTCTCCAGGACTTGTGGTTTTAGTTTGCAGCTTTGCTGGACTTCCCTGGCAGAAGGGGCTTTGGGGATCTTGGTGCCTCAGACCTTGTGATCCATTGGCACAGCAGCGGTGTGCAGGCCCCGATGAAGATAGTGCGTCAGTGGTTGTCAAAGGAAGTCTCTTGACTACCCAGGCCCACTGTGATGCTGGAATGGAGGGGTCCTGGGACAGTGTAGAGCAACTTCTGCGGGGAAGATGGCTGCCACAGTCACCCCTGGGACCACCTTTTTCCCTGCTTTGATGCAGTTCAGGGGCTCCTGGGAAAGCAGGCAGTGTAGGGACTCATGCTGTTGCCTAGGTTACCTCCAAGGGCACCTGCTGAGCATTGCCCTGTGGTTGAAGGCAGGCTGTTGGCCTTCAGGATCAGTGAGTGGCAAAGTCTGAGTGAAACTTGATGAGAAGCAGTAGAGGCTAGGCTGAAGCTAGGCCCTGGCATTTATATGGTGTGAGGAGGCCTAGAGCTGTGATCTTAGGAGTGTATAATAAAACTTGGAAAAACCACTATTTTACCAGGAAGAGGCTCACTGCTGGGGAACAGACTTCAAAGTAGGTGATCATAGGGGACTCANN
|
pathogenic
| 336,214 |
The mutation impacting SLC16A2 (solute carrier family 16 member 2) on chromosome X at position 74422037: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Allan-Herndon-Dudley_syndrome', 'Spastic_paraplegia']
|
GCATCACCTCTGGCTATGCAGTCTTTCACTTATCAGGAGGGTTAATGAGATGCAGGGTAGAAAGGTCTTGCCACTCGCCCGCCCGCTCGTGGAAGCCGAGTAGCTTGGTAACGACACCACGACTTCACGTTTAGTGCATTAGACGCGTAGACCCTTAGGGGAGGCAGAGCTTCCCGGTATCGCCGAGCGGGCCCTGAGGGCTGAGGCTGGGCACCCCTGCGCACCCCTGCTGAGTGCCCGGCCACCAGAAAGACAGATCCCCCACCTTTCCTTCTCCCTGACCCGGCGCGCTTCCTGGGGAACAAACTCTCCCTTACCCTCAGTGGGGCTGGGGCCTCAGTCTGCGACATACAGTGGGACTCCCATGTCTGCATGCCTGAGGTGGGCGGAAGGGGGCGGTGGGTGCTGGGAAGACATCCGTCCGCTTGCAGCTCCGCTGAGTCTCCAGCACCTGAAAAGCCGCGGCCGAGGCCTGAGGGACCAGCCCAGCCGAGATATCGGGGGCGGGGCAGCCCAATCCCAAACTGGCGGCTGGACCCGACTCCAACTCGTTCCTCCTAAGTCCGGGACAGATTGTCGGGAGGAGCTTGAACTGAGCTTCGGCTCCCGACTGGGCCTGGGCCCGGCCCCCACTGGTGCCACCTCCCTCCCTTCCTGGCCCGGCTCCTGGCCCACACTCGGCCCTGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCTCTGAGGCTCCTCCGGGCTCCAGGTTGGCGCAAACAAAGCCCTGATTGACTGCCCGGAGGGGCGGGCCTCGCTGCATGGCCGCCTCCTCCCCTCCCAGGCCGCCAGGGATTTGCCGGGAAGAGCGGGGGCAGGGGGAGACTCCCGGGGGTGCGCAGGACCGCGGGGGGCCGAGTCCTCGGGCTCGAGAAGATTGTGTCCACCCGCTGTCCGAGGCCCAGGCTGTCCCCTCAGGTCGTCCTCCTCAAGTCCAAGGAGGGACATGGGAGCTCCTGAGGGCAGGGTGGGGTTCCTCGCGGGCCAGCTGTCGTCCTAGGGTCCCCGGTGCCACCTCAGTTGCGGGCTGCTTGTGAGGAAGGAGGGTATGGGAGCAAAAAATAGGAGGGGTCTTCCCGAGGCTCGGGGTTGATCAGTGTCGGTTCTAGAGCCTGCGGGGAAAAGAGGGCAGGAGAACAGGATAGTTTGTGCTTCCTTTTTTCCATTTTAACTTTTCCTCTAACGGGCATCCGGGCAAGAACAGGGTTCAGTAGTTTGGGAAGGGAGCTGGGGGAGGCAGTGGCGGCTGGAGTAGGTAGGCGAGTAAAAGGAGGAGGAAGGGCTGGGGAGAAGAGCGAGGCTGTAGCGGCTGCCTGTTGAGGGAGGAAGAGGTGGGGGGTGTGGAGGAGGGGGAGGAGAGAGAGATGACATGGGGAGAGGAGGAGGGGGGTTGGACGTGGGAGGAGGAGGAGAGGGCTCGAGGGACCGTCTGTCGCGGGACGGGCTGGCCAGCTGGGGCGCGGAGCCTGGAGGAGGAGGCAGCGGCAGCGGCAGCAGCAGCCCTCCGAGCAGCAGCAGCTGCAGCAGCAGAAACAAGTACCAGCCACAAAGCGGCTCCTCTGGCCCAAGCAGCCACAGTCCCCCCGCCGCGATGGCGCTGCAAAGCCAGGCGAGCGAGGAAGCAAAGGGGCCCTGGCAGGAGGCAGACCAGGAACAGCAGGAGCCGGTGGGTAGCCCAGAGCCGGAGTCTGAGCCGGAGCCTGAGCCCGAGCCCGAGCCCGTGCCAGTGCCCCCGCCCGAGCCCCAGCCGGAGCCCCAGCCCCTACCGGACCCCGCACCCCTGCCGGAGCTGGAGTTCGAGTCCGAGCGGGTGCACGAACCCGAGCCCACGCCTACGGTAGAGACCCGCGGCACCGCGCGCGGCTTCCAGCCTCCCGAAGGTGGCTTCGGCTGGGTGGTGGTGTTCGCTGCCACCTGGTGCAACGGCTCCATCTTCGGCATCCATAACTCTGTCGGGATCCTCTACTCCATGCTGCTAGAGGAGGAAAAGGAAAAAAATCGCCAAGTGGAGTTCCAAGCAGGTGAGTGGCCCCGCACGCCCCACTTGGCATTTTGGGCAAGGTTGGCCGCTCCCGCTGCCACCGACCCCATACCTCCCGGTCCGAGGCGCCCCTCCAACGCGCCTCTCCGACTCCTCCCCTTACCCCTTACCCCTTGCCCCTTGCCCCTTTCCATGGCTCTCCTAGGGTGCGGGTTGCGGGGCTTTGGGCAGCTTGGACTGGGGAGACTAGGTGCAAGGCGTCCCGGGGGTACGAACTGGGACATTCATTGATCCTTGGCAAGCAATGGACTTTTTTTTGCCCTGGGACAAATCTAAATGCACCTTTCAGGTTTAAGGTACCTTTGCCCCTGTGTGCTGGGGGAAAATATTTGCAGGACTTTTTTTTTTTTTGGAGGTGGGGAGAAGTCATGAGGAGAGGAGAGAATTGAGAGGCGGGGCGGGCTCTGAGAGAAGCACTGTACCGCTGATCTCCGCAGCAGCCCCCCGGTTCCTTTGGGGAAACGGAGGTGTTTTCTGTTAAAAACACTTTAGGAATCCTGATGACTATGAGCGAAGAGTCAAACACATGGCAGGCGTGCGTGTCTGCAAGAGAGAAAGGGAGGGAGGGAGTTCGAGTCGGGGTGTGAGTGCGTCTCTGGCCGCCGCCGTTACGGCCCAGCTGGGCCCGGCAGTCCTCTGCCGCCCCGCGGGAGTGAATGGATCTCCGTGCCCTATGAGCCGAGCCCCAGAGCGGGCGGGGAGGCGGTCTCCGCAGTCTCCTGCCAGAGAGGCGTGAGGCCGCAGGCAGGCTGGGCCCTGCTGCTCACTCCGCACCGCCCCCAACTTCAGCCCTGCCTTCCCCGGCAACCCGCGCCTCTCTGCTACCGGTGGGGTGCCTCGTTCGGCCTACAGCCTGAGTGCCAGACCCGCCATTCCAGCTTTCCCCTGGAGCTGACTTGATCTCAGACAGAGTTGGGGGGCATAGCCCTCGCTTTCCAGGCCAGTGGACGCAAGACCCCAGGCGTGTGCGCTCTTCTCATTGAGGCCGCCTGTGAGCTGGGAGAAGTCAGAGGAACCATCTCGCTTTCCCAGCAAAGCCGCTGGCGAAATCCCTCAGCAGTTCTGGTGAGGGATTCAGACGAAGACGGGGGATTGGGATGCCCTCTCTGGCAAGGCTTGCTCCCTCTCGTGGCTCCTCAGGACAGCTCGACTCTTGCCACCAGCCCCAAGTTCACAACTCAGAATATGTGGCTTTTCGCAGTGTTGCCCTCGGACTGAGGAGTTCCATCCTCTCGCCAACCTCCAACCCCCACATATTTCTACTGCCATTTGAGGGGACCTGGGAATTATTAAGTGAACATAGAAACCTTGAATTCTGGAGTGTCCACCTGTGGATTCCCTGGGCCCTCTCCAGGACTTGTGGTTTTAGTTTGCAGCTTTGCTGGACTTCCCTGGCAGAAGGGGCTTTGGGGATCTTGGTGCCTCAGACCTTGTGATCCATTGGCACAGCAGCGGTGTGCAGGCCCCGATGAAGATAGTGCGTCAGTGGTTGTCAAAGGAAGTCTCTTGACTACCCAGGCCCACTGTGATGCTGGAATGGAGGGGTCCTGGGACAGTGTAGAGCAACTTCTGCGGGGAAGATGGCTGCCACAGTCACCCCTGGGACCACCTTTTTCCCTGCTTTGATGCAGTTCAGGGGCTCCTGGGAAAGCAGGCAGTGTAGGGACTCATGCTGTTGCCTAGGTTACCTCCAAGGGCACCTGCTGAGCATTGCCCTGTGGTTGAAGGCAGGCTGTTGGCCTTCAGGATCAGTGAGTGGCAAAGTCTGAGTGAAACTTGATGAGAAGCAGTAGAGGCTAGGCTGAAGCTAGGCCCTGGCATTTATATGGTGTGAGGAGGCCTAGAGCTGTGATCTTAGGAGTGTATAATAAAACTTGGAAAAACCACTATTTTACCAGGAAGAGGCTCACTGCTGGGGAACAGACTTCAAAGTAGGTGATCATAGGGGACTCAGGGGGAGGGCTGGCTGGGACTTTCCGGTCAAGACCTCACAGTGC
|
GCATCACCTCTGGCTATGCAGTCTTTCACTTATCAGGAGGGTTAATGAGATGCAGGGTAGAAAGGTCTTGCCACTCGCCCGCCCGCTCGTGGAAGCCGAGTAGCTTGGTAACGACACCACGACTTCACGTTTAGTGCATTAGACGCGTAGACCCTTAGGGGAGGCAGAGCTTCCCGGTATCGCCGAGCGGGCCCTGAGGGCTGAGGCTGGGCACCCCTGCGCACCCCTGCTGAGTGCCCGGCCACCAGAAAGACAGATCCCCCACCTTTCCTTCTCCCTGACCCGGCGCGCTTCCTGGGGAACAAACTCTCCCTTACCCTCAGTGGGGCTGGGGCCTCAGTCTGCGACATACAGTGGGACTCCCATGTCTGCATGCCTGAGGTGGGCGGAAGGGGGCGGTGGGTGCTGGGAAGACATCCGTCCGCTTGCAGCTCCGCTGAGTCTCCAGCACCTGAAAAGCCGCGGCCGAGGCCTGAGGGACCAGCCCAGCCGAGATATCGGGGGCGGGGCAGCCCAATCCCAAACTGGCGGCTGGACCCGACTCCAACTCGTTCCTCCTAAGTCCGGGACAGATTGTCGGGAGGAGCTTGAACTGAGCTTCGGCTCCCGACTGGGCCTGGGCCCGGCCCCCACTGGTGCCACCTCCCTCCCTTCCTGGCCCGGCTCCTGGCCCACACTCGGCCCTGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCTCTGAGGCTCCTCCGGGCTCCAGGTTGGCGCAAACAAAGCCCTGATTGACTGCCCGGAGGGGCGGGCCTCGCTGCATGGCCGCCTCCTCCCCTCCCAGGCCGCCAGGGATTTGCCGGGAAGAGCGGGGGCAGGGGGAGACTCCCGGGGGTGCGCAGGACCGCGGGGGGCCGAGTCCTCGGGCTCGAGAAGATTGTGTCCACCCGCTGTCCGAGGCCCAGGCTGTCCCCTCAGGTCGTCCTCCTCAAGTCCAAGGAGGGACATGGGAGCTCCTGAGGGCAGGGTGGGGTTCCTCGCGGGCCAGCTGTCGTCCTAGGGTCCCCGGTGCCACCTCAGTTGCGGGCTGCTTGTGAGGAAGGAGGGTATGGGAGCAAAAAATAGGAGGGGTCTTCCCGAGGCTCGGGGTTGATCAGTGTCGGTTCTAGAGCCTGCGGGGAAAAGAGGGCAGGAGAACAGGATAGTTTGTGCTTCCTTTTTTCCATTTTAACTTTTCCTCTAACGGGCATCCGGGCAAGAACAGGGTTCAGTAGTTTGGGAAGGGAGCTGGGGGAGGCAGTGGCGGCTGGAGTAGGTAGGCGAGTAAAAGGAGGAGGAAGGGCTGGGGAGAAGAGCGAGGCTGTAGCGGCTGCCTGTTGAGGGAGGAAGAGGTGGGGGGTGTGGAGGAGGGGGAGGAGAGAGAGATGACATGGGGAGAGGAGGAGGGGGGTTGGACGTGGGAGGAGGAGGAGAGGGCTCGAGGGACCGTCTGTCGCGGGACGGGCTGGCCAGCTGGGGCGCGGAGCCTGGAGGAGGAGGCAGCGGCAGCGGCAGCAGCAGCCCTCCGAGCAGCAGCAGCTGCAGCAGCAGAAACAAGTACCAGCCACAAAGCGGCTCCTCTGGCCCAAGCAGCCACAGTCCCCCCGCCGCGATGGCGCTGCAAAGCCAGGCGAGCGAGGAAGCAAAGGGGCCCTGGCAGGAGGCAGACCAGGAACAGCAGGAGCCGGTGGGTAGCCCAGAGCCGGAGTCTGAGCCGGAGCCTGAGCCCGAGCCCGAGCCCGTGCCAGTGCCCCCGCCCGAGCCCCAGCCGGAGCCCCAGCCCCTACCGGACCCCGCACCCCTGCCGGAGCTGGAGTTCGAGTCCGAGCGGGTGCACGAACCCGAGCCCACGCCTACGGTAGAGACCCGCGGCACCGCGCGCGGCTTCCAGCCTCCCGAAGGTGGCTTCGGCTGGGTGGTGGTGTTCGCTGCCACCTGGTGCAACGGCTCCATCTTCGGCATCCATAACTCTGTCGGGATCCTCTACTCCATGCTGCTAGAGGAGGAAAAGGAAAAAAAATCGCCAAGTGGAGTTCCAAGCAGGTGAGTGGCCCCGCACGCCCCACTTGGCATTTTGGGCAAGGTTGGCCGCTCCCGCTGCCACCGACCCCATACCTCCCGGTCCGAGGCGCCCCTCCAACGCGCCTCTCCGACTCCTCCCCTTACCCCTTACCCCTTGCCCCTTGCCCCTTTCCATGGCTCTCCTAGGGTGCGGGTTGCGGGGCTTTGGGCAGCTTGGACTGGGGAGACTAGGTGCAAGGCGTCCCGGGGGTACGAACTGGGACATTCATTGATCCTTGGCAAGCAATGGACTTTTTTTTGCCCTGGGACAAATCTAAATGCACCTTTCAGGTTTAAGGTACCTTTGCCCCTGTGTGCTGGGGGAAAATATTTGCAGGACTTTTTTTTTTTTTGGAGGTGGGGAGAAGTCATGAGGAGAGGAGAGAATTGAGAGGCGGGGCGGGCTCTGAGAGAAGCACTGTACCGCTGATCTCCGCAGCAGCCCCCCGGTTCCTTTGGGGAAACGGAGGTGTTTTCTGTTAAAAACACTTTAGGAATCCTGATGACTATGAGCGAAGAGTCAAACACATGGCAGGCGTGCGTGTCTGCAAGAGAGAAAGGGAGGGAGGGAGTTCGAGTCGGGGTGTGAGTGCGTCTCTGGCCGCCGCCGTTACGGCCCAGCTGGGCCCGGCAGTCCTCTGCCGCCCCGCGGGAGTGAATGGATCTCCGTGCCCTATGAGCCGAGCCCCAGAGCGGGCGGGGAGGCGGTCTCCGCAGTCTCCTGCCAGAGAGGCGTGAGGCCGCAGGCAGGCTGGGCCCTGCTGCTCACTCCGCACCGCCCCCAACTTCAGCCCTGCCTTCCCCGGCAACCCGCGCCTCTCTGCTACCGGTGGGGTGCCTCGTTCGGCCTACAGCCTGAGTGCCAGACCCGCCATTCCAGCTTTCCCCTGGAGCTGACTTGATCTCAGACAGAGTTGGGGGGCATAGCCCTCGCTTTCCAGGCCAGTGGACGCAAGACCCCAGGCGTGTGCGCTCTTCTCATTGAGGCCGCCTGTGAGCTGGGAGAAGTCAGAGGAACCATCTCGCTTTCCCAGCAAAGCCGCTGGCGAAATCCCTCAGCAGTTCTGGTGAGGGATTCAGACGAAGACGGGGGATTGGGATGCCCTCTCTGGCAAGGCTTGCTCCCTCTCGTGGCTCCTCAGGACAGCTCGACTCTTGCCACCAGCCCCAAGTTCACAACTCAGAATATGTGGCTTTTCGCAGTGTTGCCCTCGGACTGAGGAGTTCCATCCTCTCGCCAACCTCCAACCCCCACATATTTCTACTGCCATTTGAGGGGACCTGGGAATTATTAAGTGAACATAGAAACCTTGAATTCTGGAGTGTCCACCTGTGGATTCCCTGGGCCCTCTCCAGGACTTGTGGTTTTAGTTTGCAGCTTTGCTGGACTTCCCTGGCAGAAGGGGCTTTGGGGATCTTGGTGCCTCAGACCTTGTGATCCATTGGCACAGCAGCGGTGTGCAGGCCCCGATGAAGATAGTGCGTCAGTGGTTGTCAAAGGAAGTCTCTTGACTACCCAGGCCCACTGTGATGCTGGAATGGAGGGGTCCTGGGACAGTGTAGAGCAACTTCTGCGGGGAAGATGGCTGCCACAGTCACCCCTGGGACCACCTTTTTCCCTGCTTTGATGCAGTTCAGGGGCTCCTGGGAAAGCAGGCAGTGTAGGGACTCATGCTGTTGCCTAGGTTACCTCCAAGGGCACCTGCTGAGCATTGCCCTGTGGTTGAAGGCAGGCTGTTGGCCTTCAGGATCAGTGAGTGGCAAAGTCTGAGTGAAACTTGATGAGAAGCAGTAGAGGCTAGGCTGAAGCTAGGCCCTGGCATTTATATGGTGTGAGGAGGCCTAGAGCTGTGATCTTAGGAGTGTATAATAAAACTTGGAAAAACCACTATTTTACCAGGAAGAGGCTCACTGCTGGGGAACAGACTTCAAAGTAGGTGATCATAGGGGACTCAGGGGGAGGGCTGGCTGGGACTTTCCGGTCAAGACCTCACAGTG
|
pathogenic
| 336,215 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.