question
stringlengths 84
268
| answer
stringlengths 6
879
| reference_sequence
stringlengths 4.1k
4.1k
| mutated_sequence
stringlengths 4.1k
4.1k
| cleaned_pathogenicity
stringclasses 2
values | __index_level_0__
int64 67
343k
|
|---|---|---|---|---|---|
Evaluate if the mutation on chromosome X at position 46854003 in RP2 (RP2 activator of ARL3 GTPase) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic
|
AACTCGGGAGGCTGAGACAGGAGAGAGCCGAGTTCATGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAGAAAAAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCGGAGAATGGCCTGAACCCAGGAGGTGGAGCTTGCAGTGAGCTGAGATTGCGCCATTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCGAAAGAGAGAGAGAGAAAGGAGGGAGGGAAGGAAGGGAAGGAAGAGAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGTAGCGAAGGAAGAAAGGAGCGAAAGAAGGAGTGAAGGAAGGAGCGAGCTATAGTTTGGAAGATCTAAGAATAGAAATGGCCAAATTTGAAAAATTGCGTTGTAGCTTAATAAATGCTTGAATCAAATTTGCTTGCATTTACATATTGTGATTCTTGTGCCTTCAGGTTCTTCTGTTTTCTGTAGCATATTGCAGAAATCAGTTGGGGTTTAGAAACTGAGACCATACATTGATTTGAAAAAGGATAGAGAAATATATTTCAGTCTGGGTACATTCCCAATTTCAGAATTTTATTTTATTATTATTATTATTTTTGGGACAGAGTCTCACTGTGTCCCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCGAGGCTCAAGCTATTCTTGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCGCCACCACGCCTGGGTAATTTTTGTATTTTTAATAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGTCTCATCTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTAAAAGCAAGAGCCACTGCACCCAGCCTCAGATTTTTTTAGAAATTAGAAGTTTTAAAAATGAAGCATCAAAAAAGAAAAAGTATCAGAAAGCTGAAATAGCAAGGTCATGGTTAAGATCATTAGATACATAGGATATGAGTTGAATTTTTCATAGCGCTTTTATTAAAACAATCATTTAAAAATATATTTTTGACCCTGGTACTCTACAAAGCTTAGTACATTTTTTACTTTTATAAATTCCAAATAGGCTAAAAGCCTACTGACAATATTGACAGTAGCAATGATGATGTAGGTGTCACTTGGGTTAAGTCATGGGAAAACTCAAACCATAGTGTCACAGAGGCTACCCTTTAGCTTTGCATGCCCAGAACACAATTTAATAGCAAAGAGAGGGGATCTGTCTTCTGGGAGGTGTGTATGTTGACTAAGATCATAGGTTTTATATTATTATTGAGAGAAACAATTTGTCCTGTTCATTTTGTTACTGTGTTTCAAAGTCATTGAGATTAAGAATTTATATTTCAGCACTAAGAACTGTGCCTGGCAGCCAATAGTCCTTTAGTTGATACTTGTTGAATAATGTTAATAATACTCAAGGTCTGTGTTTTGTTCCTGCAGGTTGATCCAAAAGACTACATGTTCAGTGGACTGAAGGATGAAACAGTAGGTCGCTTACCTGGGACGGTAGCAGGACAACAGTTTCTCATTCAAGACTGTGAGAACTGTAACATCTATATTTTTGATCACTCTGCTACAGTTACCATTGATGACTGTACTAACTGCATAATTTTTCTGGGACCCGTGAAAGGCAGCGTGTTTTTCCGGAATTGCAGAGATTGCAAGTGCACATTAGCCTGCCAACAATTTCGTGTGCGAGATTGTAGAAAGCTGGAAGTCTTTTTGTGTTGTGCCACTCAACCCATCATTGAGTCTTCCTCAAATATCAAATTTGGATGTTTTCAATGGTACTATCCTGAATTAGCTTTCCAGTTCAAAGATGCAGGGCTAAGTATCTTCAACAATACATGGAGTAACATTCATGACTTTACACCTGTGTCAGGAGAACTCAACTGGAGCCTTCTTCCAGAAGATGCTGTGGTTCAGGACTATGTTCCTATACCTACTACCGAAGAGCTCAAAGCTGTTCGTGTTTCCACAGAAGCCAATAGAAGCATTGTTCCAATATCCCGGGGTCAGAGACAGAAGAGCAGCGATGAATCATGCTTAGTGGTATTATTTGCTGGTGATTACACTATTGCAAATGCCAGAAAACTAATTGATGAGGTAAGGAGAAAGAGAAGAGAAATAGTCATACACCTAGATTTAAAAATGTACCACTCTGGAGTACTTCCATTCTTTTCAAATTGGCTATTGGAAATACAGGCAACCCTCAAGTTATAGTCCTTTGCCACCACCCCCTCTCCCAACAGACTCATCTGTAAGTAGATTGCTTGGGCCTCAAAATACTTTCTCAAAGAAACTTTTAAAAAATATAATTCAATTCAGTAAGCATTAAGCATTTGTTTGTAAGTAGATTGCTTGGGCCTCAAAATACTTTCCCAAAGAAACTTTAAAAAAATATAATTCAAATCAGTAAGCATTAAGCACCTATTATGTGCTAGTTACTGTTATCATATTTCACTGATGATAGGATGCCTATTTGTTTTCCATGATTTTGCTTATCTGGAATGCATCTTATAATTGATAGCAACTCAGAAATGATGAACTATAGTGTATGCTGGAGATGAAGATACATAGACAAAATTCTCTGCCCTTAAAGAGTTTCCATTATACTAGATGATTTCCAGAGAAGCTCACAAAAGTAGTACTGCTTAGTAAAGCATGACATTTTATAATTATTTAGTGGGGAAATTTCTTTAGAGTTCTAATTGGTTAGGGGGTAAGAAAATGCAATTTTTTTTTTTTGTGACGGGGTCTTGCTCTGTCACCCAGCCGGAGTGCAGTGGTGCGATCTCGGCTCACCGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTATAGGTGGGCGCCACCACACCCAGCTAATTTTTTTTGTATTGTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGATGGTCTCGATCTTTTGACCTCATGATCCACCTGCCTAAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCAAAAGTACATTTAGGAATACAACTTTTGGACCCTGTTGTGACTGTGAGAGCAACCTCCACATTACGTTCCTTATTTTCCTTTATTGCCATAGAAGGGAGCTTGATGCAGAAGAGTGAGATGGAAGCTAGGTTGGCAAAGCTCATAGGCTCATGAACAGTGGGTCTTGGTGAGCTCATGAATAGAGAAGGCTTTTTGGGGTAGCAGCTTCTGCTTGAAAAATAATTGGAGATACAGAGGTTAGGGGCTCCAGAAGCAGCAGTTCCTTAGTTGGTGGGTGCTCCAGTGGGAAGGCAGCAGTAGGATGTATTGATTATCCATTAATCAGGTTCCTTCAGGAGGAATCTGTTTGAATTTAAAAACCAAACTTAAAGACATAGAGAAGTGAATGGAAAACTCATCAAGTCTCTTTTTATTTTTTTGAGACGGAGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGATGCCTGCCACCATGCCCGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCATGTTGGTTAGGCTGGTCTCGAACTCCTGACCTCAAGCAGTCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGAGAGCCACCACGCTCGGCCGGAAAACTCATCAAGTCTCTTTTTGAATGGATTTTTTTTTTTTAAGTTGGAACATATCAAAAGGAATGATTTTAGGAAAATACTAAAAATGAATACCTCTCAATAGCTATATATTCCACAATGTAGAAAACCCATGTAGAAATGTCTGAAATCCACAAAGTATATCTGAGGTATAGTTTTTAAACCAACAGAAGCCAAAGTTTAATTTTAAGACTTTTATATTTTCTCTTTTGCTTATGCCTATGTGATAAAAACATTCCATGAATCTGGTAAGATACAGAAAA
|
AACTCGGGAGGCTGAGACAGGAGAGAGCCGAGTTCATGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAGAAAAAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCGGAGAATGGCCTGAACCCAGGAGGTGGAGCTTGCAGTGAGCTGAGATTGCGCCATTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCGAAAGAGAGAGAGAGAAAGGAGGGAGGGAAGGAAGGGAAGGAAGAGAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGTAGCGAAGGAAGAAAGGAGCGAAAGAAGGAGTGAAGGAAGGAGCGAGCTATAGTTTGGAAGATCTAAGAATAGAAATGGCCAAATTTGAAAAATTGCGTTGTAGCTTAATAAATGCTTGAATCAAATTTGCTTGCATTTACATATTGTGATTCTTGTGCCTTCAGGTTCTTCTGTTTTCTGTAGCATATTGCAGAAATCAGTTGGGGTTTAGAAACTGAGACCATACATTGATTTGAAAAAGGATAGAGAAATATATTTCAGTCTGGGTACATTCCCAATTTCAGAATTTTATTTTATTATTATTATTATTTTTGGGACAGAGTCTCACTGTGTCCCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCGAGGCTCAAGCTATTCTTGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCGCCACCACGCCTGGGTAATTTTTGTATTTTTAATAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGTCTCATCTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTAAAAGCAAGAGCCACTGCACCCAGCCTCAGATTTTTTTAGAAATTAGAAGTTTTAAAAATGAAGCATCAAAAAAGAAAAAGTATCAGAAAGCTGAAATAGCAAGGTCATGGTTAAGATCATTAGATACATAGGATATGAGTTGAATTTTTCATAGCGCTTTTATTAAAACAATCATTTAAAAATATATTTTTGACCCTGGTACTCTACAAAGCTTAGTACATTTTTTACTTTTATAAATTCCAAATAGGCTAAAAGCCTACTGACAATATTGACAGTAGCAATGATGATGTAGGTGTCACTTGGGTTAAGTCATGGGAAAACTCAAACCATAGTGTCACAGAGGCTACCCTTTAGCTTTGCATGCCCAGAACACAATTTAATAGCAAAGAGAGGGGATCTGTCTTCTGGGAGGTGTGTATGTTGACTAAGATCATAGGTTTTATATTATTATTGAGAGAAACAATTTGTCCTGTTCATTTTGTTACTGTGTTTCAAAGTCATTGAGATTAAGAATTTATATTTCAGCACTAAGAACTGTGCCTGGCAGCCAATAGTCCTTTAGTTGATACTTGTTGAATAATGTTAATAATACTCAAGGTCTGTGTTTTGTTCCTGCAGGTTGATCCAAAAGACTACATGTTCAGTGGACTGAAGGATGAAACAGTAGGTCGCTTACCTGGGACGGTAGCAGGACAACAGTTTCTCATTCAAGACTGTGAGAACTGTAACATCTATATTTTTGATCACTCTGCTACAGTTACCATTGATGACTGTACTAACTGCATAATTTTTCTGGGACCCGTGAAAGGCAGCGTGTTTTTCCGGAATTGCAGAGATTGCAAGTGCACATTAGCCTGCCAACAATTTCGTGTGCGAGATTGTAGAAAGCTGGAAGTCTTTTTGTGTTGTGCCACTCAACCCATCATTGAGTCTTCCTCAAATATCAAATTTGGATGTTTTCAATGGTACTATCCTGAATTAGCTTTCCAGTTCAAAGATGCAGGGCTAAGTATCTTCAACAATACATGGAGTAACATTCATGACTTTACACCTGTGTCAGGAGAACTCAACTGGAGCCTTCTTCCAGAAGATGCTGTGGTTCAGGACTATGTTCCTATACCTACTACCGAAGAGCTCAAAGCTGTTGTGTTTCCACAGAAGCCAATAGAAGCATTGTTCCAATATCCCGGGGTCAGAGACAGAAGAGCAGCGATGAATCATGCTTAGTGGTATTATTTGCTGGTGATTACACTATTGCAAATGCCAGAAAACTAATTGATGAGGTAAGGAGAAAGAGAAGAGAAATAGTCATACACCTAGATTTAAAAATGTACCACTCTGGAGTACTTCCATTCTTTTCAAATTGGCTATTGGAAATACAGGCAACCCTCAAGTTATAGTCCTTTGCCACCACCCCCTCTCCCAACAGACTCATCTGTAAGTAGATTGCTTGGGCCTCAAAATACTTTCTCAAAGAAACTTTTAAAAAATATAATTCAATTCAGTAAGCATTAAGCATTTGTTTGTAAGTAGATTGCTTGGGCCTCAAAATACTTTCCCAAAGAAACTTTAAAAAAATATAATTCAAATCAGTAAGCATTAAGCACCTATTATGTGCTAGTTACTGTTATCATATTTCACTGATGATAGGATGCCTATTTGTTTTCCATGATTTTGCTTATCTGGAATGCATCTTATAATTGATAGCAACTCAGAAATGATGAACTATAGTGTATGCTGGAGATGAAGATACATAGACAAAATTCTCTGCCCTTAAAGAGTTTCCATTATACTAGATGATTTCCAGAGAAGCTCACAAAAGTAGTACTGCTTAGTAAAGCATGACATTTTATAATTATTTAGTGGGGAAATTTCTTTAGAGTTCTAATTGGTTAGGGGGTAAGAAAATGCAATTTTTTTTTTTTGTGACGGGGTCTTGCTCTGTCACCCAGCCGGAGTGCAGTGGTGCGATCTCGGCTCACCGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTATAGGTGGGCGCCACCACACCCAGCTAATTTTTTTTGTATTGTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGATGGTCTCGATCTTTTGACCTCATGATCCACCTGCCTAAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCAAAAGTACATTTAGGAATACAACTTTTGGACCCTGTTGTGACTGTGAGAGCAACCTCCACATTACGTTCCTTATTTTCCTTTATTGCCATAGAAGGGAGCTTGATGCAGAAGAGTGAGATGGAAGCTAGGTTGGCAAAGCTCATAGGCTCATGAACAGTGGGTCTTGGTGAGCTCATGAATAGAGAAGGCTTTTTGGGGTAGCAGCTTCTGCTTGAAAAATAATTGGAGATACAGAGGTTAGGGGCTCCAGAAGCAGCAGTTCCTTAGTTGGTGGGTGCTCCAGTGGGAAGGCAGCAGTAGGATGTATTGATTATCCATTAATCAGGTTCCTTCAGGAGGAATCTGTTTGAATTTAAAAACCAAACTTAAAGACATAGAGAAGTGAATGGAAAACTCATCAAGTCTCTTTTTATTTTTTTGAGACGGAGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGATGCCTGCCACCATGCCCGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCATGTTGGTTAGGCTGGTCTCGAACTCCTGACCTCAAGCAGTCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGAGAGCCACCACGCTCGGCCGGAAAACTCATCAAGTCTCTTTTTGAATGGATTTTTTTTTTTTAAGTTGGAACATATCAAAAGGAATGATTTTAGGAAAATACTAAAAATGAATACCTCTCAATAGCTATATATTCCACAATGTAGAAAACCCATGTAGAAATGTCTGAAATCCACAAAGTATATCTGAGGTATAGTTTTTAAACCAACAGAAGCCAAAGTTTAATTTTAAGACTTTTATATTTTCTCTTTTGCTTATGCCTATGTGATAAAAACATTCCATGAATCTGGTAAGATACAGAAAAN
|
pathogenic
| 333,655 |
Variant in gene RP2 (RP2 activator of ARL3 GTPase), located at chromosome X position 46860019: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Retinal_dystrophy']
|
AGCATTGAATGAGGGTTCTGAAATAGGATTTGAGTTTAATAAAATTCGATGGAATGGTATGGAATAATGTAGCCATAGGATGAAATACTATCAGCCATTAAAACTGACTTTATGTAGAAAATGTCACAATTAAGTAAGTGAAAATTTGTAGAATATTAGGTAAGTAACTGATTTTTTTAAGTAGGTAAGTCTGGAAAGTTATAGATACTTAAATGTTAACAGGCATGCTTATTCTTAGGCAGTTGATTAACAGCAGGGTTTTCTTTTTTTGTAGTTCTATGGATTTAACAGTGAGCATATATTATTTCTGTAATGGGAGAAAAAGAAAACTGGGAGGGTATACCTGTATGGCAGTAGCATCTTTTAGTTGCAGCACCCTGGTTGATATTTCTTCATTTCTATTTTTTATTTTTCAAATGTTCTGTGTTGAGAATATATGTTACTTTTAATTATTAAAAACCTAACAAGCTTTGCTAAAAATTAAGTGGTTGGAATATGACTACATTTTTTTTTTTTTAAAGACAAGGTTTTGCTCTATTGTCCAGGCTGGAGTGCAGTGGTGAGATCATAGCTCAGTGTAGCCTCTAACTCCTGGGCTTAAGGGATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACACACCACCACACCTGGCTAATTTTAAATTTTTTTTTATAAAGATGGGGTCTTGCTGTGTTGCCCAGGCTGGTCTCAAACTCCTGGTCTCAAGCAGTCCTCCCACCTTGGCCTCTCAGAGTGCTTGGGATGCATGTGTGAGCCATGATGCTGGGCTGACTGCATTTTTAAAAACTACTTTCATAATTACTTTAAAAATTAATATGCCCTCATTGTGGAGAATTATAGAAATAAGAAAGAGTAAAATAAGTTTAAAATCAATACATAATTGTACCATACCTTGAATAATCTTTTTAGGAATCATTTTTAAATTTATTTAGTCTGTAATTAGATTAACTAGGTTTGAATCACAGCTCTGTCACTTAATTGTTGAATGTCCTTGGGCAAGTTCCTTAATCACTGTGCGCCTTAGTTTTCATATCTGTACAATGAGGGTAATGATACCTACTTCGTGAGAGGGTTAAATATATATATGTAAAGTACATAAAACTGCCTGCCACATGGTAAGTGCTCCATAAGTGTGATCTACCATTATTGTGCTATACTATATAAATTTGTATCATGCCTTTTAAAATTAACATTATTGGCCAGGTACAGTGGCTCATGCTTATAATTCCAGCATCTTGGGTGGCTGAGGCAGGAGGATGGCTTGAGCCCAGGAGTTCAAGATCAGCCTGGCAACATGGCAAGAACCTGTTTCTACAAAAAAAATTTTAAAAATTAGCCAGGCATGGTGGCACGAGCTTGTAGTCCCAGCTAGCTGCCTGGGAGGCTGAGGTGGGAGAATCGTTTGAACCCAGGCGTTTGAGGCTGCAGTGAGCTATGATTGCACCACTACATTCCAGCCAGGGCAACAGAGTGACACCCTATCTCAAAAAAAAAAAAAAAGAAAGAAAAATAAACAAATAAAAGTAAAATTAACATTATTACATAAGCTTTTCCTCATTTTATTATAACATCTTTGTTGTATTTAATGAACTGTGATAAATGTAATGAACTGTGGCATTTCATCATGTGACTGTACCATAATTTACTTAACCATTCTCTTCTTATTGGACATTTGCAGTATCACCAAACTAAAACTTCCATCTGGTTGTAGAAAAATTTTAATCATGTTTTAAACTTGAGAGATAATTCACATTTATTTGACCCTTAACCTTAACTGCAGTACTAAACCAGAACCACCCATCTGTAAGAAAGAATCTCATATAGTGAGAACTTATTATAGCAAACACCCTGAATTAGACTTATAATTAAAACAAAAATCAGTGTGCTGTTGTTGCATTTTATACAGAGAAATACTAGAATAGGAAATCATTGTTTTAGTCTCAGAAGTTCATTTTAAAATCTCAATGAAATTTTATTTTCACAGATGGTTGGTAAAGGCTTTTTCCTAGTTCAGACAAAGGAAGTGTCCATGAAAGCTGAGGATGCTCAAAGGGTTTTTCGGGAAAAAGCACCTGACTTCCTTCCTCTTCTGAACAAAGGTACCTTCTGGATGATTGGTATACTTTTGTGGATATTTTCTTTACATGCTGATTTGATTTACTTTTGCCTTTAACATTTGTTTTACATTGCCTTCTCTTTCTCATTTGTTCTTTGTTTTTTTTCTATTATTGTTCTGAAATGTCAAAATTTCACATCACTCAAGGAGCCCTAGACAACTAACTAGAAATTAGGCATTCTTTTTTTTTCCCTATCCTCTGTTCTTAGTACTGAAAGTCACATTTTATTATGTATCTTATTATCATTTTAATTGTTGTATTATTGTTGTACCTTTATAGTGTAGTGATAAATATTTCATGCTCCCTGCTCAGAGTTGCAAAGCACTTGATGAAGATTCTTTCTACCTTCAGTGTGCTTTAATCATACTGGAAAAGAAATAAGAAATATAAAGTGGTATACTATTTTATGTATTTAATATGATTGATTAACTTCCATGTATAATTAGAATTGTTTTCCCTAGTGGGTAAATGCCACCAATAAATTTCAGATACTGGATATAGGTCTTCAAAGAGAGGAACTTGAGTATGTGTGCCCACTTGAAGGGTTACTGTCTGCCTACCTGTATTTGAAGGTGTATTGATTCTAGAGGACAGAGTACTCTTTATCTGTTCAGAGTGGGGCCATTGTTTGCTCAAGGCTCATCAGGCTTTCCTTGACTGGCCTGAGCAAATATGTATAGTAATACGCAGTGTTGATTGGGTATTCCCTAGAGAGAGGGCACATCTGCATTTTATGTGCTCTTTATGTATAAAAATATTATAATAAACTGCAAAAATCTGTATGCAAATGTTAGAGGAATGTTAGGATAATAAGTAATGCTGGGTGTAACTCAGCTGGTAAGTATTAATGCAGTATTTGATAATACTTCTGTGGTTACTGTAGTGGTAGCAAGGACTTGCTGTGACCCACTGCATGAATCTACCCCAGAATATATGTAGGAAATTCTGACCTGGCCCCTTTGATGCAACCATTTTGACATGGGAACATTTGGAAGCTTGAAAATGAATGTTTAACTTCTTAGCAGCTTTTGGAAATTGAATCAGGTAATAAGTGTATTGGACATCCTAAAGTGTGAGAGTTAGGAATAAAGTGAGCATATCGGTAGAGCTAAATTAATGATTTATGTACCTGTGTGATGTTAGTGAAGTCGTATTGTAGAATTGCTCCAACCCAAATATAATATCTGCATTTAAGTAACAGAACATTCCACATGGAAGAAGTAAAATGTTCTATTGCTGCAAAAAGTAGAACTAAAACCAATAAGCAGATGTTGCAGGAATTTCAGCAAATAAATATTATATAAACAAGTCTTAAAAACAAGAGATGCCTATAGGAAGTATTCAAAGACTGATGAGTTCATATCAAAAGATCTTAGGAGCCAGCTTGAAGGAGTTTCCATGGGCCAAATTTGGGACAATTTAACAATTAAAAGGAATACTGGGACTGGATGTAGTGCCGAACCCCTGTAATCCCAGCATTTTGGGAGGGTGAAGTGGAAGGATTGCTTAAGGCCAGGAGTTTGAAACCCATCTGGGCAACGTTGCAAGACCTTGTCACTACAAAAAATACAAAAATTAGCTAGGGGTGATGCATACCTGTAGTCCCAGCTACTCAGGAGCTGAGGTGGGAGGGTTGCTTGAGCCCAGGAGCTTGAGGCTGCAGTGAGTTATGCTCATGCCACTGCACTGCAGCCTGGGCAACAGAGCAAGACCTTGTCTCAAAAAAAGAGAAGAATGAAGGTAATGATTTAACAACAGAAATCTATGCATCCATATTGTTAAACAAAAAGGGGAGAGAAGAAAAGAATGTTCATCTGCTGTTTATGGAATATTGTGAGCTAAAAAATGCAGAAGGAATGCTGGACTTTGGAAATCACCATTTCCAACCCCAATGTAATAATTATTTCAGACAAAGATTATCAGTGGGTGCTAAAACTATTGGGGTA
|
AGCATTGAATGAGGGTTCTGAAATAGGATTTGAGTTTAATAAAATTCGATGGAATGGTATGGAATAATGTAGCCATAGGATGAAATACTATCAGCCATTAAAACTGACTTTATGTAGAAAATGTCACAATTAAGTAAGTGAAAATTTGTAGAATATTAGGTAAGTAACTGATTTTTTTAAGTAGGTAAGTCTGGAAAGTTATAGATACTTAAATGTTAACAGGCATGCTTATTCTTAGGCAGTTGATTAACAGCAGGGTTTTCTTTTTTTGTAGTTCTATGGATTTAACAGTGAGCATATATTATTTCTGTAATGGGAGAAAAAGAAAACTGGGAGGGTATACCTGTATGGCAGTAGCATCTTTTAGTTGCAGCACCCTGGTTGATATTTCTTCATTTCTATTTTTTATTTTTCAAATGTTCTGTGTTGAGAATATATGTTACTTTTAATTATTAAAAACCTAACAAGCTTTGCTAAAAATTAAGTGGTTGGAATATGACTACATTTTTTTTTTTTTAAAGACAAGGTTTTGCTCTATTGTCCAGGCTGGAGTGCAGTGGTGAGATCATAGCTCAGTGTAGCCTCTAACTCCTGGGCTTAAGGGATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACACACCACCACACCTGGCTAATTTTAAATTTTTTTTTATAAAGATGGGGTCTTGCTGTGTTGCCCAGGCTGGTCTCAAACTCCTGGTCTCAAGCAGTCCTCCCACCTTGGCCTCTCAGAGTGCTTGGGATGCATGTGTGAGCCATGATGCTGGGCTGACTGCATTTTTAAAAACTACTTTCATAATTACTTTAAAAATTAATATGCCCTCATTGTGGAGAATTATAGAAATAAGAAAGAGTAAAATAAGTTTAAAATCAATACATAATTGTACCATACCTTGAATAATCTTTTTAGGAATCATTTTTAAATTTATTTAGTCTGTAATTAGATTAACTAGGTTTGAATCACAGCTCTGTCACTTAATTGTTGAATGTCCTTGGGCAAGTTCCTTAATCACTGTGCGCCTTAGTTTTCATATCTGTACAATGAGGGTAATGATACCTACTTCGTGAGAGGGTTAAATATATATATGTAAAGTACATAAAACTGCCTGCCACATGGTAAGTGCTCCATAAGTGTGATCTACCATTATTGTGCTATACTATATAAATTTGTATCATGCCTTTTAAAATTAACATTATTGGCCAGGTACAGTGGCTCATGCTTATAATTCCAGCATCTTGGGTGGCTGAGGCAGGAGGATGGCTTGAGCCCAGGAGTTCAAGATCAGCCTGGCAACATGGCAAGAACCTGTTTCTACAAAAAAAATTTTAAAAATTAGCCAGGCATGGTGGCACGAGCTTGTAGTCCCAGCTAGCTGCCTGGGAGGCTGAGGTGGGAGAATCGTTTGAACCCAGGCGTTTGAGGCTGCAGTGAGCTATGATTGCACCACTACATTCCAGCCAGGGCAACAGAGTGACACCCTATCTCAAAAAAAAAAAAAAAGAAAGAAAAATAAACAAATAAAAGTAAAATTAACATTATTACATAAGCTTTTCCTCATTTTATTATAACATCTTTGTTGTATTTAATGAACTGTGATAAATGTAATGAACTGTGGCATTTCATCATGTGACTGTACCATAATTTACTTAACCATTCTCTTCTTATTGGACATTTGCAGTATCACCAAACTAAAACTTCCATCTGGTTGTAGAAAAATTTTAATCATGTTTTAAACTTGAGAGATAATTCACATTTATTTGACCCTTAACCTTAACTGCAGTACTAAACCAGAACCACCCATCTGTAAGAAAGAATCTCATATAGTGAGAACTTATTATAGCAAACACCCTGAATTAGACTTATAATTAAAACAAAAATCAGTGTGCTGTTGTTGCATTTTATACAGAGAAATACTAGAATAGGAAATCATTGTTTTAGTCTCAGAAGTTCATTTTAAAATCTCAATGAAATTTTATTTTCACAGATGGTTGGTAAAGGCTTTTTCCTAGTTCAGACGAAGTGTCCATGAAAGCTGAGGATGCTCAAAGGGTTTTTCGGGAAAAAGCACCTGACTTCCTTCCTCTTCTGAACAAAGGTACCTTCTGGATGATTGGTATACTTTTGTGGATATTTTCTTTACATGCTGATTTGATTTACTTTTGCCTTTAACATTTGTTTTACATTGCCTTCTCTTTCTCATTTGTTCTTTGTTTTTTTTCTATTATTGTTCTGAAATGTCAAAATTTCACATCACTCAAGGAGCCCTAGACAACTAACTAGAAATTAGGCATTCTTTTTTTTTCCCTATCCTCTGTTCTTAGTACTGAAAGTCACATTTTATTATGTATCTTATTATCATTTTAATTGTTGTATTATTGTTGTACCTTTATAGTGTAGTGATAAATATTTCATGCTCCCTGCTCAGAGTTGCAAAGCACTTGATGAAGATTCTTTCTACCTTCAGTGTGCTTTAATCATACTGGAAAAGAAATAAGAAATATAAAGTGGTATACTATTTTATGTATTTAATATGATTGATTAACTTCCATGTATAATTAGAATTGTTTTCCCTAGTGGGTAAATGCCACCAATAAATTTCAGATACTGGATATAGGTCTTCAAAGAGAGGAACTTGAGTATGTGTGCCCACTTGAAGGGTTACTGTCTGCCTACCTGTATTTGAAGGTGTATTGATTCTAGAGGACAGAGTACTCTTTATCTGTTCAGAGTGGGGCCATTGTTTGCTCAAGGCTCATCAGGCTTTCCTTGACTGGCCTGAGCAAATATGTATAGTAATACGCAGTGTTGATTGGGTATTCCCTAGAGAGAGGGCACATCTGCATTTTATGTGCTCTTTATGTATAAAAATATTATAATAAACTGCAAAAATCTGTATGCAAATGTTAGAGGAATGTTAGGATAATAAGTAATGCTGGGTGTAACTCAGCTGGTAAGTATTAATGCAGTATTTGATAATACTTCTGTGGTTACTGTAGTGGTAGCAAGGACTTGCTGTGACCCACTGCATGAATCTACCCCAGAATATATGTAGGAAATTCTGACCTGGCCCCTTTGATGCAACCATTTTGACATGGGAACATTTGGAAGCTTGAAAATGAATGTTTAACTTCTTAGCAGCTTTTGGAAATTGAATCAGGTAATAAGTGTATTGGACATCCTAAAGTGTGAGAGTTAGGAATAAAGTGAGCATATCGGTAGAGCTAAATTAATGATTTATGTACCTGTGTGATGTTAGTGAAGTCGTATTGTAGAATTGCTCCAACCCAAATATAATATCTGCATTTAAGTAACAGAACATTCCACATGGAAGAAGTAAAATGTTCTATTGCTGCAAAAAGTAGAACTAAAACCAATAAGCAGATGTTGCAGGAATTTCAGCAAATAAATATTATATAAACAAGTCTTAAAAACAAGAGATGCCTATAGGAAGTATTCAAAGACTGATGAGTTCATATCAAAAGATCTTAGGAGCCAGCTTGAAGGAGTTTCCATGGGCCAAATTTGGGACAATTTAACAATTAAAAGGAATACTGGGACTGGATGTAGTGCCGAACCCCTGTAATCCCAGCATTTTGGGAGGGTGAAGTGGAAGGATTGCTTAAGGCCAGGAGTTTGAAACCCATCTGGGCAACGTTGCAAGACCTTGTCACTACAAAAAATACAAAAATTAGCTAGGGGTGATGCATACCTGTAGTCCCAGCTACTCAGGAGCTGAGGTGGGAGGGTTGCTTGAGCCCAGGAGCTTGAGGCTGCAGTGAGTTATGCTCATGCCACTGCACTGCAGCCTGGGCAACAGAGCAAGACCTTGTCTCAAAAAAAGAGAAGAATGAAGGTAATGATTTAACAACAGAAATCTATGCATCCATATTGTTAAACAAAAAGGGGAGAGAAGAAAAGAATGTTCATCTGCTGTTTATGGAATATTGTGAGCTAAAAAATGCAGAAGGAATGCTGGACTTTGGAAATCACCATTTCCAACCCCAATGTAATAATTATTTCAGACAAAGATTATCAGTGGGTGCTAAAACTATTGGGGTANNNN
|
pathogenic
| 333,658 |
Considering the variant on chromosome X, location 47181315, involving gene RBM10 (RNA binding motif protein 10), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Inborn_genetic_diseases']
|
AGTCGTGGAGCCTTCCCCTTATCACCAGCCTGTCTCCCACTGCCCCTGACAGAGGCAGAGCAGAAGCTGCCCCTCGGCACGAGGCTGGATCAGCAGACACTGCCACTGGGTGGCCGGGAGCTGAGCCAGGGCCTGCTTCCCCTGCCGCAGCCCTACCAGGCCCAGGGAGTCCTGGCCTCCCAAGCCCTGTCACAGGGCTCGGAGCCAAGCTCAGAGAACGCCAATGACAGTGAGTCAGTTGTTCCTTCTTCCTCTGTGCCCTAGGGTGTCGGGCTGGGCTCACCAAGACCAGAGAAATGGCAGTGAGCAGGACCTCATCCTCATGGAATCTCCACTTGGTGCGGGGATAGACATTTGATGTAGGGAGAACAGGGGGAGTGGCAACATCCCACCTGACTTTGGGGGTGTGTCGGGAAGGTTCTCAGCAGACAGGCAGCCAGGCTGGCACCTGGACCGCCAAGCAGAGTTGATCCTGGAGGAAGCAGTGAGGGAAGCGGCAGTTGCAAAGGCACGGAGTGAGTGGGGGCAGAGGAAAGGGAGCAGTGGGGGCATTGAAGGGCAGGGCTGGCAAGAGTGCCAGGGGTGTCCTCTAACATTGGGCCCCTTCCCACAGCCATCATTTTGCGCAACCTGAACCCACACAGCACCATGGATTCCATCCTGGGGGCCCTGGCACCCTACGCGGTGCTGTCCTCCTCCAACGTGCGCGTCATAAAGGACAAGCAGACCCAACTGAACCGCGGCTTTGCCTTCATCCAGCTCTCCACCATCGTGGTGAGGGCGGCACAGTTGGGGGCCGGGCAGCCAGGGTCCCGGCCCCCGGGGTGGAGACGAGGGTCCTTTTCCCCAGCCTCCCACCGCGGCTGCCAGCCTGGAAATCGGGCAATGGAGCCGGGGGCCTCCCCGGGCCTGACCCTTCTGTCCCTGCCTCCCCTCCTCCCACAGGAGGCAGCCCAGCTGCTGCAGATCCTGCAGGCCCTGCACCCACCACTCACTATCGACGGCAAGACCATCAATGTTGAGTTTGCCAAGGGTTCTAAGAGGTCAGGGCCCCACCTGTGTGCCTTCCCACCCTTCCCCTCCCCACCCTCCCACTCCCCCCTACCGCTTGGGGCCTCCTATCTCACTCCCAGTCTCTAACATCCTCCTCAGGGACATGGCCTCCAATGAAGGCAGTCGCATCAGTGCTGCCTCTGTGGCCAGCACTGCCATTGCTGCGGCCCAGTGGGCCATCTCACAGGTACTCAGACCCCTTGTGCCTCCCAGCGTCCTGAGACCTGGGCTTTCTCAACCCTCCTGCACCCTCTCTGAAGCAGGAAGGCTGGCTTGCTATCCATGGATGCAAAACCCTCTCCCAGTAGCTGGCATGGCTATTCTACCTTGCTCCTGGCTCTCTAGACCCCCTGGGACATTCCCCTTCATCATCACCGCAGCTTTCTTCCCAATTGCCTCCCATGCGCTCATGTACGACGCCATTGTGCCTGGCATTCTGTGCTGTTTGGTGGGGTTTTTATTGTCCTGAATAGGTATGATATACACATATCCTTATATGTAATATATACATATATGATATACACGTATCATATGTTCCTGAATAAAAATAACGTATAAGTGGTTGAGAGAAAATTGGGAGAAGAGAATAAAGAAGTAAGAAGATGGTGTCTTCCTTGGCCTGACACCCAACACACACGCCACACACAGCAGAATCAGCAGAATCAGCCCTGGAACATTTTGGCGTTCATCTGTTTTTCTGTCTTGTGTTTGCCACTGGCCTATTTGTTCTCTTGTGGCCAGGCAACCCTCGCTTTCCACTTGTCTTAAGGCTGCATGCTTTGTCTGTCAGGTAGAAATACTAGCCCCACGTGTGGGACAGATGCTTCTAGCAGGTTCCCCACCCCCCACCCCCACACCTTCCTGTTCTAATGAACCCCTCCCACCTGCCCTTCAGGCCTCCCAAGGTGGGGAGGGTACCTGGGCCACCTCCGAGGAGCCGCCGGTCGACTACAGCTACTACCAACAGGATGAGGGCTATGGCAACAGCCAGGGCACAGAGTCTTCCCTCTATGCCCATGGCTACCTCAAGGGCACCAAGGGCCCTGGCATCACTGGAACCAAAGGGGATCCCACTGGAGCAGGTGAGCCCCAGCATCTCTCTCTGCAGCTGTGGTGGGGGCCAGCAGGCATAAAGTCCCCGGCCCCATTATTCACAGGCATTGTCCCTGCCCTGTCCCTCCTTACAGGTCCCGAGGCCTCCCTAGAGCCTGGGGCCGACTCTGTGTCGATGCAGGCTTTCTCTCGCGCCCAGCCTGGTGCTGCTCCTGGCATCTACCAACAATCAGCCGAGGCGAGCAGTAGCCAGGGCACTGCTGCCAACAGCCAGGTGAGTGAGCCCTGTGGGTATGTATCCCGGGGAGGCAGGCAGGCGGCAGGGGTGGCATGGGCAGACACTGAGCCCTGTTCTCCTGTCTGGCCCCATGACCAGTCGTATACCATCATGTCACCCGCTGTGCTCAAATCTGAGCTCCAGAGCCCTACCCATCCTAGTTCTGCTCTCCCACCGGCTACCAGCCCCACTGCCCAGGAATCCTACAGCCAGTACCGTGAGTAGCCACAGCCTGTGGGTAGGGGTGGGGAGTTCTTAATAAAGCAGGGAATAGTGTGACCCCGTTCCCCTCACCCCCTAGCTGTTCCCGACGTCTCTACCTACCAGTACGATGAGACCTCCGGCTACTACTATGACCCCCAGACCGGCCTCTACTATGACCCCAACTCCCAGGTAATAGGGCAGCCCAGGGAGGGATGGGATCGGGTCAGGTCGCGTCAGGAACAGCTAGCCCTGCAGGTTCCCTTCACAAGGTCTTCCCTCACATCCCCTCTTCCCTCCTCCTCCCTCAGTATTACTACAATGCTCAGAGCCAGCAGTACCTGTACTGGGATGGGGAGAGGCGGACCTATGTTCCCGCCCTGGAGCAGTCGGCCGACGGACATAAGGAGACAGGGGCACCCTCGAAGGAGGGCAAAGAGAAGAAGGAGAAGCACAAGACCAAGACAGCTCAACAGGTGAACACCAGGGTCCAGCAGTCACTGGCTGGCTGTGTGGTGTCTTCCAGCAACGGCACTCTGTCAGCTCTTGCCCTCTCCTGCCAAGGGAGATGGCGGGCAGGTGTGGATGTGGGCAGTGACTGCTTAGCAGACCATGCTCTTGCCCCAGCTCTGCTCTTTGCTGAATGGCCTTGAGCCAGAGCAGTCTCCTCAGTGTGTGGCAGGGTTGCCCAACTCCAGGAGGTGGCTTGTGCCATCCGAGTGAGCCCTGTCAGGTGTCTTCTGTCCCATGGTGGGGACCCTCACATTCTGCTGGTGAATATACATGTATGCCAGAGAAATTCTCACAGGCCATAAGGGGGTGGGCAGGAAAAAAGCCCTGCAATGTTTTGTGGGAGTGGGCAGATGGAGGGCACCTCAGTGTCTCTCTGTGGAGAAAGGGTGTGACACTGTGAGCGTAGCGTTTACAAGCAAGCACTAAGTGTTACCTTAGCAACCTGATGAATTCTAAAAATGGTGCTGTGCTGGGGGGAACATGGAAATATAGAATGTGGCATTGTGTCATGCATATAAAGTTATACACAAATAAACATTCCTATGCATTTTTAAATGATAAAATGGAAATGCACAACAAATGTGACAGCGTGGGTGTATGTCAGGGGAAGAGGAGTGTCTTCATCCATTTGCTGCTCCATAACAATACCACAGACTGGGTAATTTATAAGGAAAAGAGATTGATTTGGCTCACAGTTCTGTAGGCAGGGAAGCCCAGTGGTGTTGGCATCTGGTGAGGGCCTTCTTGCCGCATCATAACATGGCAAAGGGCAAGAGAGCATGCATGAGAGCAAGAGAAAATTGGGCCAAACTCCCCCTTTTTATCTGGAACCCACTCAGTGATGGCATTAAATGGAGACTCAAAAGGTGGAGGGGGGCCGGGAGCCGTGGCTCATGCCTGTAATCCCAGCAGTTTGGGAGGCTGGGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAA
|
AGTCGTGGAGCCTTCCCCTTATCACCAGCCTGTCTCCCACTGCCCCTGACAGAGGCAGAGCAGAAGCTGCCCCTCGGCACGAGGCTGGATCAGCAGACACTGCCACTGGGTGGCCGGGAGCTGAGCCAGGGCCTGCTTCCCCTGCCGCAGCCCTACCAGGCCCAGGGAGTCCTGGCCTCCCAAGCCCTGTCACAGGGCTCGGAGCCAAGCTCAGAGAACGCCAATGACAGTGAGTCAGTTGTTCCTTCTTCCTCTGTGCCCTAGGGTGTCGGGCTGGGCTCACCAAGACCAGAGAAATGGCAGTGAGCAGGACCTCATCCTCATGGAATCTCCACTTGGTGCGGGGATAGACATTTGATGTAGGGAGAACAGGGGGAGTGGCAACATCCCACCTGACTTTGGGGGTGTGTCGGGAAGGTTCTCAGCAGACAGGCAGCCAGGCTGGCACCTGGACCGCCAAGCAGAGTTGATCCTGGAGGAAGCAGTGAGGGAAGCGGCAGTTGCAAAGGCACGGAGTGAGTGGGGGCAGAGGAAAGGGAGCAGTGGGGGCATTGAAGGGCAGGGCTGGCAAGAGTGCCAGGGGTGTCCTCTAACATTGGGCCCCTTCCCACAGCCATCATTTTGCGCAACCTGAACCCACACAGCACCATGGATTCCATCCTGGGGGCCCTGGCACCCTACGCGGTGCTGTCCTCCTCCAACGTGCGCGTCATAAAGGACAAGCAGACCCAACTGAACCGCGGCTTTGCCTTCATCCAGCTCTCCACCATCGTGGTGAGGGCGGCACAGTTGGGGGCCGGGCAGCCAGGGTCCCGGCCCCCGGGGTGGAGACGAGGGTCCTTTTCCCCAGCCTCCCACCGCGGCTGCCAGCCTGGAAATCGGGCAATGGAGCCGGGGGCCTCCCCGGGCCTGACCCTTCTGTCCCTGCCTCCCCTCCTCCCACAGGAGGCAGCCCAGCTGCTGCAGATCCTGCAGGCCCTGCACCCACCACTCACTATCGACGGCAAGACCATCAATGTTGAGTTTGCCAAGGGTTCTAAGAGGTCAGGGCCCCACCTGTGTGCCTTCCCACCCTTCCCCTCCCCACCCTCCCACTCCCCCCTACCGCTTGGGGCCTCCTATCTCACTCCCAGTCTCTAACATCCTCCTCAGGGACATGGCCTCCAATGAAGGCAGTCGCATCAGTGCTGCCTCTGTGGCCAGCACTGCCATTGCTGCGGCCCAGTGGGCCATCTCACAGGTACTCAGACCCCTTGTGCCTCCCAGCGTCCTGAGACCTGGGCTTTCTCAACCCTCCTGCACCCTCTCTGAAGCAGGAAGGCTGGCTTGCTATCCATGGATGCAAAACCCTCTCCCAGTAGCTGGCATGGCTATTCTACCTTGCTCCTGGCTCTCTAGACCCCCTGGGACATTCCCCTTCATCATCACCGCAGCTTTCTTCCCAATTGCCTCCCATGCGCTCATGTACGACGCCATTGTGCCTGGCATTCTGTGCTGTTTGGTGGGGTTTTTATTGTCCTGAATAGGTATGATATACACATATCCTTATATGTAATATATACATATATGATATACACGTATCATATGTTCCTGAATAAAAATAACGTATAAGTGGTTGAGAGAAAATTGGGAGAAGAGAATAAAGAAGTAAGAAGATGGTGTCTTCCTTGGCCTGACACCCAACACACACGCCACACACAGCAGAATCAGCAGAATCAGCCCTGGAACATTTTGGCGTTCATCTGTTTTTCTGTCTTGTGTTTGCCACTGGCCTATTTGTTCTCTTGTGGCCAGGCAACCCTCGCTTTCCACTTGTCTTAAGGCTGCATGCTTTGTCTGTCAGGTAGAAATACTAGCCCCACGTGTGGGACAGATGCTTCTAGCAGGTTCCCCACCCCCCACCCCCACACCTTCCTGTTCTAATGAACCCCTCCCACCTGCCCTTCAGGCCTCCCAAGGTGGGGAGGGTACCTGGGCCACCTCCGAGGAGCCGCCGGTCGACTACAGCTACTACCAACAGGATGAGGGCTATGGCAACAGCCAGGGCACAGTCTTCCCTCTATGCCCATGGCTACCTCAAGGGCACCAAGGGCCCTGGCATCACTGGAACCAAAGGGGATCCCACTGGAGCAGGTGAGCCCCAGCATCTCTCTCTGCAGCTGTGGTGGGGGCCAGCAGGCATAAAGTCCCCGGCCCCATTATTCACAGGCATTGTCCCTGCCCTGTCCCTCCTTACAGGTCCCGAGGCCTCCCTAGAGCCTGGGGCCGACTCTGTGTCGATGCAGGCTTTCTCTCGCGCCCAGCCTGGTGCTGCTCCTGGCATCTACCAACAATCAGCCGAGGCGAGCAGTAGCCAGGGCACTGCTGCCAACAGCCAGGTGAGTGAGCCCTGTGGGTATGTATCCCGGGGAGGCAGGCAGGCGGCAGGGGTGGCATGGGCAGACACTGAGCCCTGTTCTCCTGTCTGGCCCCATGACCAGTCGTATACCATCATGTCACCCGCTGTGCTCAAATCTGAGCTCCAGAGCCCTACCCATCCTAGTTCTGCTCTCCCACCGGCTACCAGCCCCACTGCCCAGGAATCCTACAGCCAGTACCGTGAGTAGCCACAGCCTGTGGGTAGGGGTGGGGAGTTCTTAATAAAGCAGGGAATAGTGTGACCCCGTTCCCCTCACCCCCTAGCTGTTCCCGACGTCTCTACCTACCAGTACGATGAGACCTCCGGCTACTACTATGACCCCCAGACCGGCCTCTACTATGACCCCAACTCCCAGGTAATAGGGCAGCCCAGGGAGGGATGGGATCGGGTCAGGTCGCGTCAGGAACAGCTAGCCCTGCAGGTTCCCTTCACAAGGTCTTCCCTCACATCCCCTCTTCCCTCCTCCTCCCTCAGTATTACTACAATGCTCAGAGCCAGCAGTACCTGTACTGGGATGGGGAGAGGCGGACCTATGTTCCCGCCCTGGAGCAGTCGGCCGACGGACATAAGGAGACAGGGGCACCCTCGAAGGAGGGCAAAGAGAAGAAGGAGAAGCACAAGACCAAGACAGCTCAACAGGTGAACACCAGGGTCCAGCAGTCACTGGCTGGCTGTGTGGTGTCTTCCAGCAACGGCACTCTGTCAGCTCTTGCCCTCTCCTGCCAAGGGAGATGGCGGGCAGGTGTGGATGTGGGCAGTGACTGCTTAGCAGACCATGCTCTTGCCCCAGCTCTGCTCTTTGCTGAATGGCCTTGAGCCAGAGCAGTCTCCTCAGTGTGTGGCAGGGTTGCCCAACTCCAGGAGGTGGCTTGTGCCATCCGAGTGAGCCCTGTCAGGTGTCTTCTGTCCCATGGTGGGGACCCTCACATTCTGCTGGTGAATATACATGTATGCCAGAGAAATTCTCACAGGCCATAAGGGGGTGGGCAGGAAAAAAGCCCTGCAATGTTTTGTGGGAGTGGGCAGATGGAGGGCACCTCAGTGTCTCTCTGTGGAGAAAGGGTGTGACACTGTGAGCGTAGCGTTTACAAGCAAGCACTAAGTGTTACCTTAGCAACCTGATGAATTCTAAAAATGGTGCTGTGCTGGGGGGAACATGGAAATATAGAATGTGGCATTGTGTCATGCATATAAAGTTATACACAAATAAACATTCCTATGCATTTTTAAATGATAAAATGGAAATGCACAACAAATGTGACAGCGTGGGTGTATGTCAGGGGAAGAGGAGTGTCTTCATCCATTTGCTGCTCCATAACAATACCACAGACTGGGTAATTTATAAGGAAAAGAGATTGATTTGGCTCACAGTTCTGTAGGCAGGGAAGCCCAGTGGTGTTGGCATCTGGTGAGGGCCTTCTTGCCGCATCATAACATGGCAAAGGGCAAGAGAGCATGCATGAGAGCAAGAGAAAATTGGGCCAAACTCCCCCTTTTTATCTGGAACCCACTCAGTGATGGCATTAAATGGAGACTCAAAAGGTGGAGGGGGGCCGGGAGCCGTGGCTCATGCCTGTAATCCCAGCAGTTTGGGAGGCTGGGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAANN
|
pathogenic
| 333,691 |
Is the genetic change at chromosome X, position 47574544, within gene SYN1 (synapsin I) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Epilepsy,_X-linked_1,_with_variable_learning_disabilities_and_behavior_disorders']
|
AGGGCTCCAGGAAGGGATTCTGCAATGGGTTGCCTGGTATTTGGGCACTTCCAGGAAGGAAAACGCCCTCTGGGGAAACCAGGGGCGGAGGTCTTCAGGAATGTGGAGGTTCTAAAACAGAAGTAGATCCTGAAGTGACCACGAGTGGGGTTCTAAAAGGACTTGGGGATTCCACATGTGAGAACCGGATTTAGGGCCAGGAGGAGTCAGGTTTCTCAAGGTACTCGGGGATCTTGAGGAATGAGAGGTGGAATCTTGGAGAACCGGGAGATGGGTTCTCAAGGGATTTGGAGACTCCAAAAGTGAGAAATGGATTCAGGGCCCAGAGAAGGGTTGCCCAGGGATTTTGGGGTTCTCAGAGTGGGGTATCAGTCGGAGAAGAGGCTGGCGAAAGACTTCCTCAGGCTGCGGATGGTCTCAGCTTTCACCTCGTCCTGGCTAAGGCTGGGCCTGGGCGGGGCTGGCTCTGGAAGGTTGAAGGCATTGGTCAGAGACTGGGATTTGCTAGAGAGAGACAAGGTGGAGGCGTGGGAGGAAGGGGGAAGAGGAAGGGGAGGAAGGGGAGAGAAACACAACGTTACCCCAGGCCCAGCCCCAGCCCTGCCCCTCTGATCCTGGGGCTGTGCCTGTGACCTCCCCACCTGCCACCATGGGCCTGGACCCTAACAGGTTCTCAAGGCTGGGAGCACTCAGGTGGAGTGGGTGGAGTCCTGGGCCAGGGAGGCGAGATCTGGGACAGGCTGGGAGGACTTGGATCCAGGGTGAAGTGTGGGATTCGTGGCAAGAGTCCTGGGCAGAACCTTCTCTGTGAATTCTTGGCTAGTTTGATACAAAGGGGAAGATGAGCAGGGAAGTTTCCAATCTAAGGGTGAGGTGTCTAGGAGGGCATAGAAAGGGCTTGGACCAAGGACAGGCTGTTGGGCAAGTCAGCCTAAGGCAGAGCAGCTGGGTGGGGCAGGGAGGACGTCTGAGCTGGGATGGGAGTTGGAATGGACCAGAAAAGGCAGATGGGTGATGATTCGCGGGGAGACTGAGATGGGCCAGAAGGATGTGAAGGAGGAGGAAAAGTATGAGGATGGAGTGGGAAGAGCCAGATGATAGGAGGACTAGGACTCGGGCCAGGAGTTTTAGGGATGGGTTGGTGGCGGGGGGGCGAGTTTGGCAGGGAAGGCTCTGGGCTGGGCAGGAAGTTGCAGAGGGTGGGTCAGCCAGGTGCCTGGGAGGCCCTGGAGGAGGAAACTTTCCCAGGGCCTTTGAGGAGGAATTCGAACTGAGTGCAGTTTCTCTGGGATTCTGGCACCAAATTCCTGGGGTGGGGGTGCGGAGCCTCTGGTGGGCCGGGAGGAGCGAAAGCTTGGGGGAAGGGCTTGGCTCAGGCTGGAGAGAGTTCGTGGGACCCCTGCATAGGACCTGGGTCTGAGGAGCAAGGGAGCTAGGGCTGCTCTACTGGGGCAGCGGCCCGCTTTGTGAGCAGCAAGGCGAAGGCTGCTGTAGGGGTCCCCTTACTTGAGCTGGGGGTGCGGAGGTCCCCCTGCAGCGGCGGTGGCGGGTGGCGGCACGTCCTGGCTGGGTTTCTGGGCCAGCTGTGGTTTGGGACGTCCAGCGGGGCCCGGGCCGCTGGGCCGAGGCTGCTGCGTGGTGGGTGGCCCAGTGCGGGGCACGGGACCCGCCTGGCTGGCCTGGCGTGTGGGGCCGGCTGGGCCTGGGGGTTTCTGGGGCGGGCCCTGGCGCTGCTGCCCGCCCGGTGGGGCCCCAGAGGCCTTTGGCGGAGCCGGGCCAGAGACGGATGTCTGACGGGTAGCCTGTGGGGGGCCCGCCTGGCGCTGGGGAGACGGAGAGGCGGGCGGGCGGGCTGCTGGAGGCGCCCCGGGGCCTCCCGCCACTGGCCGGGATTGGCGGCCTTGACCCTGGGTCGGCGGCGCGGCCTGGGACGCGGGCTGCTGGGGCGCTGAGGTGGGACTTGGAAGGCGCTGGGGCAGGGGGCTGCCAGCTGGGGGTCCAAGGCCTGAAAGGTGCTGCTGGCCCTGCGGGGGCGGGCGCTGCTGCAATGGGGGTCCCTGGCGCTGGGGGCCTGGACCCGGCTGTGGAGGGCCGCCTGGGGGACAGAGGGAGAGAAAGAGCACACGTGAGAGTGAGCGGGTAAGAGATGGCGGGCTGAGGGAGGGGACTGCGACCGCCAGCCTCTCGCTTACCCTGTGGTGGGGGTCGCTGCTGAGCCGGGGGCCCTGCGGGCTGCTGGGAGGTCTGGCGGCCCAAGGGCAGGGCCCCTGGGGACGGAGTCTGCGGCAGAGGAATGGAGCAGGAGAGGTTAAAAATAGTTACCAGCCAGTGGAGCATCAGCCAGTGATGACACAGGTTCCCTGTGCGCTGGGTGTTGCCCCACTTGTGGCTGAGCTGAGGGTACTCTGGGTTGTGGGGTGGGGGACCTGTTCCCAGGGGCGGGGCAGGGAGGTGCTCAGGGAAGTCAGGGCAGCAGCTGCTTATCAATGTTTTAAACAATTGGCAATCGCAGCCACATGTGTGCAAAGGTGATGCTGTGAGCCTACAGATTATCAGCTTCATGGCACAGCATGACCCAGGGCCGGCCTCCCCACACTAGCTCAAGCCACTAGCTCAGCGCCAGGGGCCTGACCTGGCCATGGGAGCCCCTGCCAGGGGAGGCATCCCGCTGTCGCTGCCGGGGCAGGGCCTGAGCCATCTTGTTGACCACGAGCTCTACGATGAGCTGTTTGTCTTCATCCTGGTGGTCACCAATGAGCGGCATGGAGGAACCCACCACCTGGGGGAAGGAAAGGATCCGTGAGGGGAGAGGCAGGCCTCGCACCTGAGGCGGCAGTAACACCGTGCTTTCAGTTGGCCAAGGGCATGGCCGCCGCTGAGCCCCAGTGTCTGAGGCACTGATTGTGCACGGTGAGGAAGGCTTGTCTGTTCCAAGGTACCTTACAGCTTAGAAGGTGCTTCAGAGCAGGGCTCAGCAAATTAGGGCCCATGGGCCCAACCTGGCCGACCACCTGGTTCTGTATGACCCAGAGCTAAGGATGGGTCTTTAAATTTTGTAACAGTTGAAAAAAATCGAAAGATTTTATAACATGCGAAAATGGCATGAAATTTAAATTTCAATGTCCATAAACAAAGTTTTATTGGAACACAGCCACACTTATTTTTTTAACATATCGTCTATGGCTGCTTTTGCAGAGTTGAGTAGTTACGGCAGAGGCTACGTGGCCTACAAAGCCTAAAATATGTACCGTCTGCTCCTTTACAGAAAATGTTTGCCGATCCCTGCTTCACGGTTTTCTAGGTGCTTTGTCCTTTCCAAAATGCTTTGCTGTCGGTCCAGTTCGCAGAATACTTTAAAGGTTACTAAGTGCCTCGCCATTCACCAAGATGTCTCGATTCGCAGAGCACTAAACAATCTAATAAGGGTTTTGCTAGTCACCAGGGACGTGCAAGTTCAGTCTAGTGTTCTGCCATTGCAAGGGATGGCCCCTTCGAAAGTTCGTCAGGCACCTTACAGTGTACTAAGCACATTGCTGTTGGCTGAGGACCTCTGTGCCATGGAGTGCTTCAGTTTGCACTGCTGCTGCCTGGCATCTGTTCCTCCCTCTACCCCACCTACCCCTGGGTGCTCATACCTCAATGATGTGATCCCTTCCGTCCTTGCCATGTAGCGCTTCCACTGCGCAGATGTCCAGTCCCCCAAAAATCTCTGAGCACGTGTCCACCCACAGCTTGTATCTGCCAAGACAAAGGGTGGGGAAGCCTGTCAGTCTCTCACCTGAGCTGTCGTGCTCCCACCCCCGCTTCCCCTCACACCCTGAGTTCGGGCTGCCCACCTGTCAGACATGGCAATTTGCTCCAGCATCGCAGAGCCAGTATTGGTCTTCCAGTTCCCTGACACTGACGTCCTCCTGGGGGACAAGGGGACAGAAGCTCAGGGGTGCCTCAGCTGCATGAGGCAAGGCAGGGGACCCCTTCCAGGGCTTTGGTCTCTCCACTCACATGTAGGCCTTGTAGTTCTGCCCAATCTTCTGGACACGCACGTCATATTTGGCATCGATGAAGGGCTCGGCAGTGGCATACGTCTTGGTCAGTG
|
AGGGCTCCAGGAAGGGATTCTGCAATGGGTTGCCTGGTATTTGGGCACTTCCAGGAAGGAAAACGCCCTCTGGGGAAACCAGGGGCGGAGGTCTTCAGGAATGTGGAGGTTCTAAAACAGAAGTAGATCCTGAAGTGACCACGAGTGGGGTTCTAAAAGGACTTGGGGATTCCACATGTGAGAACCGGATTTAGGGCCAGGAGGAGTCAGGTTTCTCAAGGTACTCGGGGATCTTGAGGAATGAGAGGTGGAATCTTGGAGAACCGGGAGATGGGTTCTCAAGGGATTTGGAGACTCCAAAAGTGAGAAATGGATTCAGGGCCCAGAGAAGGGTTGCCCAGGGATTTTGGGGTTCTCAGAGTGGGGTATCAGTCGGAGAAGAGGCTGGCGAAAGACTTCCTCAGGCTGCGGATGGTCTCAGCTTTCACCTCGTCCTGGCTAAGGCTGGGCCTGGGCGGGGCTGGCTCTGGAAGGTTGAAGGCATTGGTCAGAGACTGGGATTTGCTAGAGAGAGACAAGGTGGAGGCGTGGGAGGAAGGGGGAAGAGGAAGGGGAGGAAGGGGAGAGAAACACAACGTTACCCCAGGCCCAGCCCCAGCCCTGCCCCTCTGATCCTGGGGCTGTGCCTGTGACCTCCCCACCTGCCACCATGGGCCTGGACCCTAACAGGTTCTCAAGGCTGGGAGCACTCAGGTGGAGTGGGTGGAGTCCTGGGCCAGGGAGGCGAGATCTGGGACAGGCTGGGAGGACTTGGATCCAGGGTGAAGTGTGGGATTCGTGGCAAGAGTCCTGGGCAGAACCTTCTCTGTGAATTCTTGGCTAGTTTGATACAAAGGGGAAGATGAGCAGGGAAGTTTCCAATCTAAGGGTGAGGTGTCTAGGAGGGCATAGAAAGGGCTTGGACCAAGGACAGGCTGTTGGGCAAGTCAGCCTAAGGCAGAGCAGCTGGGTGGGGCAGGGAGGACGTCTGAGCTGGGATGGGAGTTGGAATGGACCAGAAAAGGCAGATGGGTGATGATTCGCGGGGAGACTGAGATGGGCCAGAAGGATGTGAAGGAGGAGGAAAAGTATGAGGATGGAGTGGGAAGAGCCAGATGATAGGAGGACTAGGACTCGGGCCAGGAGTTTTAGGGATGGGTTGGTGGCGGGGGGGCGAGTTTGGCAGGGAAGGCTCTGGGCTGGGCAGGAAGTTGCAGAGGGTGGGTCAGCCAGGTGCCTGGGAGGCCCTGGAGGAGGAAACTTTCCCAGGGCCTTTGAGGAGGAATTCGAACTGAGTGCAGTTTCTCTGGGATTCTGGCACCAAATTCCTGGGGTGGGGGTGCGGAGCCTCTGGTGGGCCGGGAGGAGCGAAAGCTTGGGGGAAGGGCTTGGCTCAGGCTGGAGAGAGTTCGTGGGACCCCTGCATAGGACCTGGGTCTGAGGAGCAAGGGAGCTAGGGCTGCTCTACTGGGGCAGCGGCCCGCTTTGTGAGCAGCAAGGCGAAGGCTGCTGTAGGGGTCCCCTTACTTGAGCTGGGGGTGCGGAGGTCCCCCTGCAGCGGCGGTGGCGGGTGGCGGCACGTCCTGGCTGGGTTTCTGGGCCAGCTGTGGTTTGGGACGTCCAGCGGGGCCCGGGCCGCTGGGCCGAGGCTGCTGCGTGGTGGGTGGCCCAGTGCGGGGCACGGGACCCGCCTGGCTGGCCTGGCGTGTGGGGCCGGCTGGGCCTGGGGGTTTCTGGGGCGGGCCCTGGCGCTGCTGCCCGCCCGGTGGGGCCCCAGAGGCCTTTGGCGGAGCCGGGCCAGAGACGGATGTCTGACGGGTAGCCTGTGGGGGGCCCGCCTGGCGCTGGGGAGACGGAGAGGCGGGCGGGCGGGCTGCTGGAGGCGCCCCGGGGCCTCCCGCCACTGGCCGGGATTGGCGGCCTTGACCCTGGGTCGGCGGCGCGGCCTGGGACGCGGGCTGCTGGGGCGCTGAGGTGGGACTTGGAAGGCGCTGGGGCAGGGGGCTGCCAGCTGGGGGTCCAAGGCCTGAAAGGTGCTGCTGGCCCTGCGGGGGCGGGCGCTGCTGCAATGGGGGGTCCCTGGCGCTGGGGGCCTGGACCCGGCTGTGGAGGGCCGCCTGGGGGACAGAGGGAGAGAAAGAGCACACGTGAGAGTGAGCGGGTAAGAGATGGCGGGCTGAGGGAGGGGACTGCGACCGCCAGCCTCTCGCTTACCCTGTGGTGGGGGTCGCTGCTGAGCCGGGGGCCCTGCGGGCTGCTGGGAGGTCTGGCGGCCCAAGGGCAGGGCCCCTGGGGACGGAGTCTGCGGCAGAGGAATGGAGCAGGAGAGGTTAAAAATAGTTACCAGCCAGTGGAGCATCAGCCAGTGATGACACAGGTTCCCTGTGCGCTGGGTGTTGCCCCACTTGTGGCTGAGCTGAGGGTACTCTGGGTTGTGGGGTGGGGGACCTGTTCCCAGGGGCGGGGCAGGGAGGTGCTCAGGGAAGTCAGGGCAGCAGCTGCTTATCAATGTTTTAAACAATTGGCAATCGCAGCCACATGTGTGCAAAGGTGATGCTGTGAGCCTACAGATTATCAGCTTCATGGCACAGCATGACCCAGGGCCGGCCTCCCCACACTAGCTCAAGCCACTAGCTCAGCGCCAGGGGCCTGACCTGGCCATGGGAGCCCCTGCCAGGGGAGGCATCCCGCTGTCGCTGCCGGGGCAGGGCCTGAGCCATCTTGTTGACCACGAGCTCTACGATGAGCTGTTTGTCTTCATCCTGGTGGTCACCAATGAGCGGCATGGAGGAACCCACCACCTGGGGGAAGGAAAGGATCCGTGAGGGGAGAGGCAGGCCTCGCACCTGAGGCGGCAGTAACACCGTGCTTTCAGTTGGCCAAGGGCATGGCCGCCGCTGAGCCCCAGTGTCTGAGGCACTGATTGTGCACGGTGAGGAAGGCTTGTCTGTTCCAAGGTACCTTACAGCTTAGAAGGTGCTTCAGAGCAGGGCTCAGCAAATTAGGGCCCATGGGCCCAACCTGGCCGACCACCTGGTTCTGTATGACCCAGAGCTAAGGATGGGTCTTTAAATTTTGTAACAGTTGAAAAAAATCGAAAGATTTTATAACATGCGAAAATGGCATGAAATTTAAATTTCAATGTCCATAAACAAAGTTTTATTGGAACACAGCCACACTTATTTTTTTAACATATCGTCTATGGCTGCTTTTGCAGAGTTGAGTAGTTACGGCAGAGGCTACGTGGCCTACAAAGCCTAAAATATGTACCGTCTGCTCCTTTACAGAAAATGTTTGCCGATCCCTGCTTCACGGTTTTCTAGGTGCTTTGTCCTTTCCAAAATGCTTTGCTGTCGGTCCAGTTCGCAGAATACTTTAAAGGTTACTAAGTGCCTCGCCATTCACCAAGATGTCTCGATTCGCAGAGCACTAAACAATCTAATAAGGGTTTTGCTAGTCACCAGGGACGTGCAAGTTCAGTCTAGTGTTCTGCCATTGCAAGGGATGGCCCCTTCGAAAGTTCGTCAGGCACCTTACAGTGTACTAAGCACATTGCTGTTGGCTGAGGACCTCTGTGCCATGGAGTGCTTCAGTTTGCACTGCTGCTGCCTGGCATCTGTTCCTCCCTCTACCCCACCTACCCCTGGGTGCTCATACCTCAATGATGTGATCCCTTCCGTCCTTGCCATGTAGCGCTTCCACTGCGCAGATGTCCAGTCCCCCAAAAATCTCTGAGCACGTGTCCACCCACAGCTTGTATCTGCCAAGACAAAGGGTGGGGAAGCCTGTCAGTCTCTCACCTGAGCTGTCGTGCTCCCACCCCCGCTTCCCCTCACACCCTGAGTTCGGGCTGCCCACCTGTCAGACATGGCAATTTGCTCCAGCATCGCAGAGCCAGTATTGGTCTTCCAGTTCCCTGACACTGACGTCCTCCTGGGGGACAAGGGGACAGAAGCTCAGGGGTGCCTCAGCTGCATGAGGCAAGGCAGGGGACCCCTTCCAGGGCTTTGGTCTCTCCACTCACATGTAGGCCTTGTAGTTCTGCCCAATCTTCTGGACACGCACGTCATATTTGGCATCGATGAAGGGCTCGGCAGTGGCATACGTCTTGGTCAGT
|
pathogenic
| 333,824 |
Clinical classification of chromosome X, position 47576240, gene SYN1 (synapsin I): benign or pathogenic? Disease(s) if pathogenic?
|
benign
|
CTGGGCCTGGGGGTTTCTGGGGCGGGCCCTGGCGCTGCTGCCCGCCCGGTGGGGCCCCAGAGGCCTTTGGCGGAGCCGGGCCAGAGACGGATGTCTGACGGGTAGCCTGTGGGGGGCCCGCCTGGCGCTGGGGAGACGGAGAGGCGGGCGGGCGGGCTGCTGGAGGCGCCCCGGGGCCTCCCGCCACTGGCCGGGATTGGCGGCCTTGACCCTGGGTCGGCGGCGCGGCCTGGGACGCGGGCTGCTGGGGCGCTGAGGTGGGACTTGGAAGGCGCTGGGGCAGGGGGCTGCCAGCTGGGGGTCCAAGGCCTGAAAGGTGCTGCTGGCCCTGCGGGGGCGGGCGCTGCTGCAATGGGGGTCCCTGGCGCTGGGGGCCTGGACCCGGCTGTGGAGGGCCGCCTGGGGGACAGAGGGAGAGAAAGAGCACACGTGAGAGTGAGCGGGTAAGAGATGGCGGGCTGAGGGAGGGGACTGCGACCGCCAGCCTCTCGCTTACCCTGTGGTGGGGGTCGCTGCTGAGCCGGGGGCCCTGCGGGCTGCTGGGAGGTCTGGCGGCCCAAGGGCAGGGCCCCTGGGGACGGAGTCTGCGGCAGAGGAATGGAGCAGGAGAGGTTAAAAATAGTTACCAGCCAGTGGAGCATCAGCCAGTGATGACACAGGTTCCCTGTGCGCTGGGTGTTGCCCCACTTGTGGCTGAGCTGAGGGTACTCTGGGTTGTGGGGTGGGGGACCTGTTCCCAGGGGCGGGGCAGGGAGGTGCTCAGGGAAGTCAGGGCAGCAGCTGCTTATCAATGTTTTAAACAATTGGCAATCGCAGCCACATGTGTGCAAAGGTGATGCTGTGAGCCTACAGATTATCAGCTTCATGGCACAGCATGACCCAGGGCCGGCCTCCCCACACTAGCTCAAGCCACTAGCTCAGCGCCAGGGGCCTGACCTGGCCATGGGAGCCCCTGCCAGGGGAGGCATCCCGCTGTCGCTGCCGGGGCAGGGCCTGAGCCATCTTGTTGACCACGAGCTCTACGATGAGCTGTTTGTCTTCATCCTGGTGGTCACCAATGAGCGGCATGGAGGAACCCACCACCTGGGGGAAGGAAAGGATCCGTGAGGGGAGAGGCAGGCCTCGCACCTGAGGCGGCAGTAACACCGTGCTTTCAGTTGGCCAAGGGCATGGCCGCCGCTGAGCCCCAGTGTCTGAGGCACTGATTGTGCACGGTGAGGAAGGCTTGTCTGTTCCAAGGTACCTTACAGCTTAGAAGGTGCTTCAGAGCAGGGCTCAGCAAATTAGGGCCCATGGGCCCAACCTGGCCGACCACCTGGTTCTGTATGACCCAGAGCTAAGGATGGGTCTTTAAATTTTGTAACAGTTGAAAAAAATCGAAAGATTTTATAACATGCGAAAATGGCATGAAATTTAAATTTCAATGTCCATAAACAAAGTTTTATTGGAACACAGCCACACTTATTTTTTTAACATATCGTCTATGGCTGCTTTTGCAGAGTTGAGTAGTTACGGCAGAGGCTACGTGGCCTACAAAGCCTAAAATATGTACCGTCTGCTCCTTTACAGAAAATGTTTGCCGATCCCTGCTTCACGGTTTTCTAGGTGCTTTGTCCTTTCCAAAATGCTTTGCTGTCGGTCCAGTTCGCAGAATACTTTAAAGGTTACTAAGTGCCTCGCCATTCACCAAGATGTCTCGATTCGCAGAGCACTAAACAATCTAATAAGGGTTTTGCTAGTCACCAGGGACGTGCAAGTTCAGTCTAGTGTTCTGCCATTGCAAGGGATGGCCCCTTCGAAAGTTCGTCAGGCACCTTACAGTGTACTAAGCACATTGCTGTTGGCTGAGGACCTCTGTGCCATGGAGTGCTTCAGTTTGCACTGCTGCTGCCTGGCATCTGTTCCTCCCTCTACCCCACCTACCCCTGGGTGCTCATACCTCAATGATGTGATCCCTTCCGTCCTTGCCATGTAGCGCTTCCACTGCGCAGATGTCCAGTCCCCCAAAAATCTCTGAGCACGTGTCCACCCACAGCTTGTATCTGCCAAGACAAAGGGTGGGGAAGCCTGTCAGTCTCTCACCTGAGCTGTCGTGCTCCCACCCCCGCTTCCCCTCACACCCTGAGTTCGGGCTGCCCACCTGTCAGACATGGCAATTTGCTCCAGCATCGCAGAGCCAGTATTGGTCTTCCAGTTCCCTGACACTGACGTCCTCCTGGGGGACAAGGGGACAGAAGCTCAGGGGTGCCTCAGCTGCATGAGGCAAGGCAGGGGACCCCTTCCAGGGCTTTGGTCTCTCCACTCACATGTAGGCCTTGTAGTTCTGCCCAATCTTCTGGACACGCACGTCATATTTGGCATCGATGAAGGGCTCGGCAGTGGCATACGTCTTGGTCAGTGCCACGACACTTGCGATGTCCTGGAAGTCATGCTGGTTGTCAACCTTGACCTGTGGAAGTGCGGGCAAGGATCAGGGCCTGGTCAGGATAGGGCAGCTGTGGGGAGTGGGGGTGCCTGGGGGAGCATGTATACATGACACACAGGTGAGGCGAGTACACAAAAATTAGGTGGACATGCCAAGGCGCTCAAGCAGGCACGATCATGGGTCTCCTGTTTTGTATGTGAGCACACAGGCACAAAGTTGGGTGTGTAGAACACTGAGCATACCAAAATGTATTGGATTGTCTACTTTAAATGGGTGAGTTGTAGGGTGTGTGAACTATCTCTCACTAAAGCTGTGAAAAAACTGTGTATGTACAATATACTAATATAGGCATCCAGACACAAAATCAATTGTACACACAACATGCTAAGATACAGAAACTCGGACACAAATTACAAGTCTACTTTCTACGTACACAGAGACAAAATCAGATGGATGTAAAGCACACAGGACCCCAAGACTTTGGAACATAAAAGATCACACCACATCATGTGTGTTCGGCACAGGCATGCATGTACACACAGACACGATGCTGGAGACAAGCAAAATAACAGGACACACAAAATTGGCTGAATGCAGGAGGAAAAAGGGGTCGATGAGGTCAGCTGAATGTGAGAAAACAAAAATCTATTAGGTTGGTGCAAAAGTAATTGTGGTTTTTACCATAAGAACTGGCAAAACCCGCAATTACTTTTGCACCAACCTGATAGATAACGACACCCCAGGAGACGCGATCACACAGAATGACTGGTGTGCATTGCACAAATACACATCTACCTATGCACAGCCCAGCCAGAGACTCACCTTGCCCATCCCAGAGTGTGCGTGCCCCATCTTCACAACCACGGGGTACGTTGTACTGCTGAGCTGGTGGGGAAAAGGCAGAGGAGACATGCTCAGGGCAGAAAGGGTGACCTCCAGGGGTGGGGCGGCACTGAGGGGATCCCAGCCAGTGGGAACTGCATTATGAGTCACTTCCCAGGACACACAGGTCAGAGACAGGCAGGCAGCAGCTGGGGGTCACACAGTGTCTCCACCTCCGGGCCCAGAATTGAACCCAGAGCCCTGTCTGTCTGTCCCTCACTCCACCCCACCAACAAGTTCCAGACGTCCCGCCCCTGCTTTCCCGGGCAGAGGCATGGTATGAGCGTGGGGGACTGTTCCAGTAAAAAGAAAGTTTGTTTTTACAGTGGATGGATGATAGTGAGGCAAGTGTGTGCCAGTGCGTGTGTGTGGGGGTGGGGGGGGTGGGGAGTGGTGGTGAGCATGTAGTGACTGAACCCCTCAGCCAAACCTTGTATGTAAGCCTCACCTGCACACATAAACTATTGAGAGGCATGAGCCCTTGGAACTCAGATGTACATCGCCAAACCCAGAGATGCCAGTGACATTGAGACTGACAGCCAACACAGGCTCAAAGCACATGAGCTCTGGAGCAGCACAGACACCCACACAGTCATTCAGCCAGCCAGGTGCCCATAGCGTGGGTCAGCAGCCAGCACTCCAGGGCAGCACACACTGGACACCCTTAGGCACACAATCAATACTTGGGCACACACCCAGGTTCCCTCCCCTCACCCAAACCCACATCACCATCAGGGGAACACACACAACACAAAAGATTACCCGTCCAATCAAGAGACACACAACTCC
|
CTGGGCCTGGGGGTTTCTGGGGCGGGCCCTGGCGCTGCTGCCCGCCCGGTGGGGCCCCAGAGGCCTTTGGCGGAGCCGGGCCAGAGACGGATGTCTGACGGGTAGCCTGTGGGGGGCCCGCCTGGCGCTGGGGAGACGGAGAGGCGGGCGGGCGGGCTGCTGGAGGCGCCCCGGGGCCTCCCGCCACTGGCCGGGATTGGCGGCCTTGACCCTGGGTCGGCGGCGCGGCCTGGGACGCGGGCTGCTGGGGCGCTGAGGTGGGACTTGGAAGGCGCTGGGGCAGGGGGCTGCCAGCTGGGGGTCCAAGGCCTGAAAGGTGCTGCTGGCCCTGCGGGGGCGGGCGCTGCTGCAATGGGGGTCCCTGGCGCTGGGGGCCTGGACCCGGCTGTGGAGGGCCGCCTGGGGGACAGAGGGAGAGAAAGAGCACACGTGAGAGTGAGCGGGTAAGAGATGGCGGGCTGAGGGAGGGGACTGCGACCGCCAGCCTCTCGCTTACCCTGTGGTGGGGGTCGCTGCTGAGCCGGGGGCCCTGCGGGCTGCTGGGAGGTCTGGCGGCCCAAGGGCAGGGCCCCTGGGGACGGAGTCTGCGGCAGAGGAATGGAGCAGGAGAGGTTAAAAATAGTTACCAGCCAGTGGAGCATCAGCCAGTGATGACACAGGTTCCCTGTGCGCTGGGTGTTGCCCCACTTGTGGCTGAGCTGAGGGTACTCTGGGTTGTGGGGTGGGGGACCTGTTCCCAGGGGCGGGGCAGGGAGGTGCTCAGGGAAGTCAGGGCAGCAGCTGCTTATCAATGTTTTAAACAATTGGCAATCGCAGCCACATGTGTGCAAAGGTGATGCTGTGAGCCTACAGATTATCAGCTTCATGGCACAGCATGACCCAGGGCCGGCCTCCCCACACTAGCTCAAGCCACTAGCTCAGCGCCAGGGGCCTGACCTGGCCATGGGAGCCCCTGCCAGGGGAGGCATCCCGCTGTCGCTGCCGGGGCAGGGCCTGAGCCATCTTGTTGACCACGAGCTCTACGATGAGCTGTTTGTCTTCATCCTGGTGGTCACCAATGAGCGGCATGGAGGAACCCACCACCTGGGGGAAGGAAAGGATCCGTGAGGGGAGAGGCAGGCCTCGCACCTGAGGCGGCAGTAACACCGTGCTTTCAGTTGGCCAAGGGCATGGCCGCCGCTGAGCCCCAGTGTCTGAGGCACTGATTGTGCACGGTGAGGAAGGCTTGTCTGTTCCAAGGTACCTTACAGCTTAGAAGGTGCTTCAGAGCAGGGCTCAGCAAATTAGGGCCCATGGGCCCAACCTGGCCGACCACCTGGTTCTGTATGACCCAGAGCTAAGGATGGGTCTTTAAATTTTGTAACAGTTGAAAAAAATCGAAAGATTTTATAACATGCGAAAATGGCATGAAATTTAAATTTCAATGTCCATAAACAAAGTTTTATTGGAACACAGCCACACTTATTTTTTTAACATATCGTCTATGGCTGCTTTTGCAGAGTTGAGTAGTTACGGCAGAGGCTACGTGGCCTACAAAGCCTAAAATATGTACCGTCTGCTCCTTTACAGAAAATGTTTGCCGATCCCTGCTTCACGGTTTTCTAGGTGCTTTGTCCTTTCCAAAATGCTTTGCTGTCGGTCCAGTTCGCAGAATACTTTAAAGGTTACTAAGTGCCTCGCCATTCACCAAGATGTCTCGATTCGCAGAGCACTAAACAATCTAATAAGGGTTTTGCTAGTCACCAGGGACGTGCAAGTTCAGTCTAGTGTTCTGCCATTGCAAGGGATGGCCCCTTCGAAAGTTCGTCAGGCACCTTACAGTGTACTAAGCACATTGCTGTTGGCTGAGGACCTCTGTGCCATGGAGTGCTTCAGTTTGCACTGCTGCTGCCTGGCATCTGTTCCTCCCTCTACCCCACCTACCCCTGGGTGCTCATACCTCAATGATGTGATCCCTTCCGTCCTTGCCATGTAGCGCTTCCACTGCGCAGATGTCCAGTCCCCCAAAAATCTCTGAGCACGTGTCCACCCACAGCTTGTATCTGCCAAGGTGGGGAAGCCTGTCAGTCTCTCACCTGAGCTGTCGTGCTCCCACCCCCGCTTCCCCTCACACCCTGAGTTCGGGCTGCCCACCTGTCAGACATGGCAATTTGCTCCAGCATCGCAGAGCCAGTATTGGTCTTCCAGTTCCCTGACACTGACGTCCTCCTGGGGGACAAGGGGACAGAAGCTCAGGGGTGCCTCAGCTGCATGAGGCAAGGCAGGGGACCCCTTCCAGGGCTTTGGTCTCTCCACTCACATGTAGGCCTTGTAGTTCTGCCCAATCTTCTGGACACGCACGTCATATTTGGCATCGATGAAGGGCTCGGCAGTGGCATACGTCTTGGTCAGTGCCACGACACTTGCGATGTCCTGGAAGTCATGCTGGTTGTCAACCTTGACCTGTGGAAGTGCGGGCAAGGATCAGGGCCTGGTCAGGATAGGGCAGCTGTGGGGAGTGGGGGTGCCTGGGGGAGCATGTATACATGACACACAGGTGAGGCGAGTACACAAAAATTAGGTGGACATGCCAAGGCGCTCAAGCAGGCACGATCATGGGTCTCCTGTTTTGTATGTGAGCACACAGGCACAAAGTTGGGTGTGTAGAACACTGAGCATACCAAAATGTATTGGATTGTCTACTTTAAATGGGTGAGTTGTAGGGTGTGTGAACTATCTCTCACTAAAGCTGTGAAAAAACTGTGTATGTACAATATACTAATATAGGCATCCAGACACAAAATCAATTGTACACACAACATGCTAAGATACAGAAACTCGGACACAAATTACAAGTCTACTTTCTACGTACACAGAGACAAAATCAGATGGATGTAAAGCACACAGGACCCCAAGACTTTGGAACATAAAAGATCACACCACATCATGTGTGTTCGGCACAGGCATGCATGTACACACAGACACGATGCTGGAGACAAGCAAAATAACAGGACACACAAAATTGGCTGAATGCAGGAGGAAAAAGGGGTCGATGAGGTCAGCTGAATGTGAGAAAACAAAAATCTATTAGGTTGGTGCAAAAGTAATTGTGGTTTTTACCATAAGAACTGGCAAAACCCGCAATTACTTTTGCACCAACCTGATAGATAACGACACCCCAGGAGACGCGATCACACAGAATGACTGGTGTGCATTGCACAAATACACATCTACCTATGCACAGCCCAGCCAGAGACTCACCTTGCCCATCCCAGAGTGTGCGTGCCCCATCTTCACAACCACGGGGTACGTTGTACTGCTGAGCTGGTGGGGAAAAGGCAGAGGAGACATGCTCAGGGCAGAAAGGGTGACCTCCAGGGGTGGGGCGGCACTGAGGGGATCCCAGCCAGTGGGAACTGCATTATGAGTCACTTCCCAGGACACACAGGTCAGAGACAGGCAGGCAGCAGCTGGGGGTCACACAGTGTCTCCACCTCCGGGCCCAGAATTGAACCCAGAGCCCTGTCTGTCTGTCCCTCACTCCACCCCACCAACAAGTTCCAGACGTCCCGCCCCTGCTTTCCCGGGCAGAGGCATGGTATGAGCGTGGGGGACTGTTCCAGTAAAAAGAAAGTTTGTTTTTACAGTGGATGGATGATAGTGAGGCAAGTGTGTGCCAGTGCGTGTGTGTGGGGGTGGGGGGGGTGGGGAGTGGTGGTGAGCATGTAGTGACTGAACCCCTCAGCCAAACCTTGTATGTAAGCCTCACCTGCACACATAAACTATTGAGAGGCATGAGCCCTTGGAACTCAGATGTACATCGCCAAACCCAGAGATGCCAGTGACATTGAGACTGACAGCCAACACAGGCTCAAAGCACATGAGCTCTGGAGCAGCACAGACACCCACACAGTCATTCAGCCAGCCAGGTGCCCATAGCGTGGGTCAGCAGCCAGCACTCCAGGGCAGCACACACTGGACACCCTTAGGCACACAATCAATACTTGGGCACACACCCAGGTTCCCTCCCCTCACCCAAACCCACATCACCATCAGGGGAACACACACAACACAAAAGATTACCCGTCCAATCAAGAGACACACAACTCCNNNNNNN
|
benign
| 333,831 |
Variant on chromosome X, at position 47576385, affecting SYN1 (synapsin I): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Epilepsy,_X-linked_1,_with_variable_learning_disabilities_and_behavior_disorders']
|
GGGCGGGCGGGCTGCTGGAGGCGCCCCGGGGCCTCCCGCCACTGGCCGGGATTGGCGGCCTTGACCCTGGGTCGGCGGCGCGGCCTGGGACGCGGGCTGCTGGGGCGCTGAGGTGGGACTTGGAAGGCGCTGGGGCAGGGGGCTGCCAGCTGGGGGTCCAAGGCCTGAAAGGTGCTGCTGGCCCTGCGGGGGCGGGCGCTGCTGCAATGGGGGTCCCTGGCGCTGGGGGCCTGGACCCGGCTGTGGAGGGCCGCCTGGGGGACAGAGGGAGAGAAAGAGCACACGTGAGAGTGAGCGGGTAAGAGATGGCGGGCTGAGGGAGGGGACTGCGACCGCCAGCCTCTCGCTTACCCTGTGGTGGGGGTCGCTGCTGAGCCGGGGGCCCTGCGGGCTGCTGGGAGGTCTGGCGGCCCAAGGGCAGGGCCCCTGGGGACGGAGTCTGCGGCAGAGGAATGGAGCAGGAGAGGTTAAAAATAGTTACCAGCCAGTGGAGCATCAGCCAGTGATGACACAGGTTCCCTGTGCGCTGGGTGTTGCCCCACTTGTGGCTGAGCTGAGGGTACTCTGGGTTGTGGGGTGGGGGACCTGTTCCCAGGGGCGGGGCAGGGAGGTGCTCAGGGAAGTCAGGGCAGCAGCTGCTTATCAATGTTTTAAACAATTGGCAATCGCAGCCACATGTGTGCAAAGGTGATGCTGTGAGCCTACAGATTATCAGCTTCATGGCACAGCATGACCCAGGGCCGGCCTCCCCACACTAGCTCAAGCCACTAGCTCAGCGCCAGGGGCCTGACCTGGCCATGGGAGCCCCTGCCAGGGGAGGCATCCCGCTGTCGCTGCCGGGGCAGGGCCTGAGCCATCTTGTTGACCACGAGCTCTACGATGAGCTGTTTGTCTTCATCCTGGTGGTCACCAATGAGCGGCATGGAGGAACCCACCACCTGGGGGAAGGAAAGGATCCGTGAGGGGAGAGGCAGGCCTCGCACCTGAGGCGGCAGTAACACCGTGCTTTCAGTTGGCCAAGGGCATGGCCGCCGCTGAGCCCCAGTGTCTGAGGCACTGATTGTGCACGGTGAGGAAGGCTTGTCTGTTCCAAGGTACCTTACAGCTTAGAAGGTGCTTCAGAGCAGGGCTCAGCAAATTAGGGCCCATGGGCCCAACCTGGCCGACCACCTGGTTCTGTATGACCCAGAGCTAAGGATGGGTCTTTAAATTTTGTAACAGTTGAAAAAAATCGAAAGATTTTATAACATGCGAAAATGGCATGAAATTTAAATTTCAATGTCCATAAACAAAGTTTTATTGGAACACAGCCACACTTATTTTTTTAACATATCGTCTATGGCTGCTTTTGCAGAGTTGAGTAGTTACGGCAGAGGCTACGTGGCCTACAAAGCCTAAAATATGTACCGTCTGCTCCTTTACAGAAAATGTTTGCCGATCCCTGCTTCACGGTTTTCTAGGTGCTTTGTCCTTTCCAAAATGCTTTGCTGTCGGTCCAGTTCGCAGAATACTTTAAAGGTTACTAAGTGCCTCGCCATTCACCAAGATGTCTCGATTCGCAGAGCACTAAACAATCTAATAAGGGTTTTGCTAGTCACCAGGGACGTGCAAGTTCAGTCTAGTGTTCTGCCATTGCAAGGGATGGCCCCTTCGAAAGTTCGTCAGGCACCTTACAGTGTACTAAGCACATTGCTGTTGGCTGAGGACCTCTGTGCCATGGAGTGCTTCAGTTTGCACTGCTGCTGCCTGGCATCTGTTCCTCCCTCTACCCCACCTACCCCTGGGTGCTCATACCTCAATGATGTGATCCCTTCCGTCCTTGCCATGTAGCGCTTCCACTGCGCAGATGTCCAGTCCCCCAAAAATCTCTGAGCACGTGTCCACCCACAGCTTGTATCTGCCAAGACAAAGGGTGGGGAAGCCTGTCAGTCTCTCACCTGAGCTGTCGTGCTCCCACCCCCGCTTCCCCTCACACCCTGAGTTCGGGCTGCCCACCTGTCAGACATGGCAATTTGCTCCAGCATCGCAGAGCCAGTATTGGTCTTCCAGTTCCCTGACACTGACGTCCTCCTGGGGGACAAGGGGACAGAAGCTCAGGGGTGCCTCAGCTGCATGAGGCAAGGCAGGGGACCCCTTCCAGGGCTTTGGTCTCTCCACTCACATGTAGGCCTTGTAGTTCTGCCCAATCTTCTGGACACGCACGTCATATTTGGCATCGATGAAGGGCTCGGCAGTGGCATACGTCTTGGTCAGTGCCACGACACTTGCGATGTCCTGGAAGTCATGCTGGTTGTCAACCTTGACCTGTGGAAGTGCGGGCAAGGATCAGGGCCTGGTCAGGATAGGGCAGCTGTGGGGAGTGGGGGTGCCTGGGGGAGCATGTATACATGACACACAGGTGAGGCGAGTACACAAAAATTAGGTGGACATGCCAAGGCGCTCAAGCAGGCACGATCATGGGTCTCCTGTTTTGTATGTGAGCACACAGGCACAAAGTTGGGTGTGTAGAACACTGAGCATACCAAAATGTATTGGATTGTCTACTTTAAATGGGTGAGTTGTAGGGTGTGTGAACTATCTCTCACTAAAGCTGTGAAAAAACTGTGTATGTACAATATACTAATATAGGCATCCAGACACAAAATCAATTGTACACACAACATGCTAAGATACAGAAACTCGGACACAAATTACAAGTCTACTTTCTACGTACACAGAGACAAAATCAGATGGATGTAAAGCACACAGGACCCCAAGACTTTGGAACATAAAAGATCACACCACATCATGTGTGTTCGGCACAGGCATGCATGTACACACAGACACGATGCTGGAGACAAGCAAAATAACAGGACACACAAAATTGGCTGAATGCAGGAGGAAAAAGGGGTCGATGAGGTCAGCTGAATGTGAGAAAACAAAAATCTATTAGGTTGGTGCAAAAGTAATTGTGGTTTTTACCATAAGAACTGGCAAAACCCGCAATTACTTTTGCACCAACCTGATAGATAACGACACCCCAGGAGACGCGATCACACAGAATGACTGGTGTGCATTGCACAAATACACATCTACCTATGCACAGCCCAGCCAGAGACTCACCTTGCCCATCCCAGAGTGTGCGTGCCCCATCTTCACAACCACGGGGTACGTTGTACTGCTGAGCTGGTGGGGAAAAGGCAGAGGAGACATGCTCAGGGCAGAAAGGGTGACCTCCAGGGGTGGGGCGGCACTGAGGGGATCCCAGCCAGTGGGAACTGCATTATGAGTCACTTCCCAGGACACACAGGTCAGAGACAGGCAGGCAGCAGCTGGGGGTCACACAGTGTCTCCACCTCCGGGCCCAGAATTGAACCCAGAGCCCTGTCTGTCTGTCCCTCACTCCACCCCACCAACAAGTTCCAGACGTCCCGCCCCTGCTTTCCCGGGCAGAGGCATGGTATGAGCGTGGGGGACTGTTCCAGTAAAAAGAAAGTTTGTTTTTACAGTGGATGGATGATAGTGAGGCAAGTGTGTGCCAGTGCGTGTGTGTGGGGGTGGGGGGGGTGGGGAGTGGTGGTGAGCATGTAGTGACTGAACCCCTCAGCCAAACCTTGTATGTAAGCCTCACCTGCACACATAAACTATTGAGAGGCATGAGCCCTTGGAACTCAGATGTACATCGCCAAACCCAGAGATGCCAGTGACATTGAGACTGACAGCCAACACAGGCTCAAAGCACATGAGCTCTGGAGCAGCACAGACACCCACACAGTCATTCAGCCAGCCAGGTGCCCATAGCGTGGGTCAGCAGCCAGCACTCCAGGGCAGCACACACTGGACACCCTTAGGCACACAATCAATACTTGGGCACACACCCAGGTTCCCTCCCCTCACCCAAACCCACATCACCATCAGGGGAACACACACAACACAAAAGATTACCCGTCCAATCAAGAGACACACAACTCCACAGGCACACTCCACAGAACCGGGCACATACTCAACACACAGGCACACATAAAACACCCCTAGGCAAATGCACAGCAAATAAGGCCCTACACAACACACAGAGGTGTATGCACTTCTAGGTATTCACATCACCACTGGGACCCGT
|
GGGCGGGCGGGCTGCTGGAGGCGCCCCGGGGCCTCCCGCCACTGGCCGGGATTGGCGGCCTTGACCCTGGGTCGGCGGCGCGGCCTGGGACGCGGGCTGCTGGGGCGCTGAGGTGGGACTTGGAAGGCGCTGGGGCAGGGGGCTGCCAGCTGGGGGTCCAAGGCCTGAAAGGTGCTGCTGGCCCTGCGGGGGCGGGCGCTGCTGCAATGGGGGTCCCTGGCGCTGGGGGCCTGGACCCGGCTGTGGAGGGCCGCCTGGGGGACAGAGGGAGAGAAAGAGCACACGTGAGAGTGAGCGGGTAAGAGATGGCGGGCTGAGGGAGGGGACTGCGACCGCCAGCCTCTCGCTTACCCTGTGGTGGGGGTCGCTGCTGAGCCGGGGGCCCTGCGGGCTGCTGGGAGGTCTGGCGGCCCAAGGGCAGGGCCCCTGGGGACGGAGTCTGCGGCAGAGGAATGGAGCAGGAGAGGTTAAAAATAGTTACCAGCCAGTGGAGCATCAGCCAGTGATGACACAGGTTCCCTGTGCGCTGGGTGTTGCCCCACTTGTGGCTGAGCTGAGGGTACTCTGGGTTGTGGGGTGGGGGACCTGTTCCCAGGGGCGGGGCAGGGAGGTGCTCAGGGAAGTCAGGGCAGCAGCTGCTTATCAATGTTTTAAACAATTGGCAATCGCAGCCACATGTGTGCAAAGGTGATGCTGTGAGCCTACAGATTATCAGCTTCATGGCACAGCATGACCCAGGGCCGGCCTCCCCACACTAGCTCAAGCCACTAGCTCAGCGCCAGGGGCCTGACCTGGCCATGGGAGCCCCTGCCAGGGGAGGCATCCCGCTGTCGCTGCCGGGGCAGGGCCTGAGCCATCTTGTTGACCACGAGCTCTACGATGAGCTGTTTGTCTTCATCCTGGTGGTCACCAATGAGCGGCATGGAGGAACCCACCACCTGGGGGAAGGAAAGGATCCGTGAGGGGAGAGGCAGGCCTCGCACCTGAGGCGGCAGTAACACCGTGCTTTCAGTTGGCCAAGGGCATGGCCGCCGCTGAGCCCCAGTGTCTGAGGCACTGATTGTGCACGGTGAGGAAGGCTTGTCTGTTCCAAGGTACCTTACAGCTTAGAAGGTGCTTCAGAGCAGGGCTCAGCAAATTAGGGCCCATGGGCCCAACCTGGCCGACCACCTGGTTCTGTATGACCCAGAGCTAAGGATGGGTCTTTAAATTTTGTAACAGTTGAAAAAAATCGAAAGATTTTATAACATGCGAAAATGGCATGAAATTTAAATTTCAATGTCCATAAACAAAGTTTTATTGGAACACAGCCACACTTATTTTTTTAACATATCGTCTATGGCTGCTTTTGCAGAGTTGAGTAGTTACGGCAGAGGCTACGTGGCCTACAAAGCCTAAAATATGTACCGTCTGCTCCTTTACAGAAAATGTTTGCCGATCCCTGCTTCACGGTTTTCTAGGTGCTTTGTCCTTTCCAAAATGCTTTGCTGTCGGTCCAGTTCGCAGAATACTTTAAAGGTTACTAAGTGCCTCGCCATTCACCAAGATGTCTCGATTCGCAGAGCACTAAACAATCTAATAAGGGTTTTGCTAGTCACCAGGGACGTGCAAGTTCAGTCTAGTGTTCTGCCATTGCAAGGGATGGCCCCTTCGAAAGTTCGTCAGGCACCTTACAGTGTACTAAGCACATTGCTGTTGGCTGAGGACCTCTGTGCCATGGAGTGCTTCAGTTTGCACTGCTGCTGCCTGGCATCTGTTCCTCCCTCTACCCCACCTACCCCTGGGTGCTCATACCTCAATGATGTGATCCCTTCCGTCCTTGCCATGTAGCGCTTCCACTGCGCAGATGTCCAGTCCCCCAAAAATCTCTGAGCACGTGTCCACCCACAGCTTGTATCTGCCAAGACAAAGGGTGGGGAAGCCTGTCAGTCTCTCACCTGAGCTGTCGTGCTCCCACCCCCGCTTCCCCTCACACCCTGAGTTCGGGCTGCCCACCTGTCAGACATGGCAATTTGCTCCAGCATCGCAGAGCCAGTATTGGTCTTCCAGTCCCTGACACTGACGTCCTCCTGGGGGACAAGGGGACAGAAGCTCAGGGGTGCCTCAGCTGCATGAGGCAAGGCAGGGGACCCCTTCCAGGGCTTTGGTCTCTCCACTCACATGTAGGCCTTGTAGTTCTGCCCAATCTTCTGGACACGCACGTCATATTTGGCATCGATGAAGGGCTCGGCAGTGGCATACGTCTTGGTCAGTGCCACGACACTTGCGATGTCCTGGAAGTCATGCTGGTTGTCAACCTTGACCTGTGGAAGTGCGGGCAAGGATCAGGGCCTGGTCAGGATAGGGCAGCTGTGGGGAGTGGGGGTGCCTGGGGGAGCATGTATACATGACACACAGGTGAGGCGAGTACACAAAAATTAGGTGGACATGCCAAGGCGCTCAAGCAGGCACGATCATGGGTCTCCTGTTTTGTATGTGAGCACACAGGCACAAAGTTGGGTGTGTAGAACACTGAGCATACCAAAATGTATTGGATTGTCTACTTTAAATGGGTGAGTTGTAGGGTGTGTGAACTATCTCTCACTAAAGCTGTGAAAAAACTGTGTATGTACAATATACTAATATAGGCATCCAGACACAAAATCAATTGTACACACAACATGCTAAGATACAGAAACTCGGACACAAATTACAAGTCTACTTTCTACGTACACAGAGACAAAATCAGATGGATGTAAAGCACACAGGACCCCAAGACTTTGGAACATAAAAGATCACACCACATCATGTGTGTTCGGCACAGGCATGCATGTACACACAGACACGATGCTGGAGACAAGCAAAATAACAGGACACACAAAATTGGCTGAATGCAGGAGGAAAAAGGGGTCGATGAGGTCAGCTGAATGTGAGAAAACAAAAATCTATTAGGTTGGTGCAAAAGTAATTGTGGTTTTTACCATAAGAACTGGCAAAACCCGCAATTACTTTTGCACCAACCTGATAGATAACGACACCCCAGGAGACGCGATCACACAGAATGACTGGTGTGCATTGCACAAATACACATCTACCTATGCACAGCCCAGCCAGAGACTCACCTTGCCCATCCCAGAGTGTGCGTGCCCCATCTTCACAACCACGGGGTACGTTGTACTGCTGAGCTGGTGGGGAAAAGGCAGAGGAGACATGCTCAGGGCAGAAAGGGTGACCTCCAGGGGTGGGGCGGCACTGAGGGGATCCCAGCCAGTGGGAACTGCATTATGAGTCACTTCCCAGGACACACAGGTCAGAGACAGGCAGGCAGCAGCTGGGGGTCACACAGTGTCTCCACCTCCGGGCCCAGAATTGAACCCAGAGCCCTGTCTGTCTGTCCCTCACTCCACCCCACCAACAAGTTCCAGACGTCCCGCCCCTGCTTTCCCGGGCAGAGGCATGGTATGAGCGTGGGGGACTGTTCCAGTAAAAAGAAAGTTTGTTTTTACAGTGGATGGATGATAGTGAGGCAAGTGTGTGCCAGTGCGTGTGTGTGGGGGTGGGGGGGGTGGGGAGTGGTGGTGAGCATGTAGTGACTGAACCCCTCAGCCAAACCTTGTATGTAAGCCTCACCTGCACACATAAACTATTGAGAGGCATGAGCCCTTGGAACTCAGATGTACATCGCCAAACCCAGAGATGCCAGTGACATTGAGACTGACAGCCAACACAGGCTCAAAGCACATGAGCTCTGGAGCAGCACAGACACCCACACAGTCATTCAGCCAGCCAGGTGCCCATAGCGTGGGTCAGCAGCCAGCACTCCAGGGCAGCACACACTGGACACCCTTAGGCACACAATCAATACTTGGGCACACACCCAGGTTCCCTCCCCTCACCCAAACCCACATCACCATCAGGGGAACACACACAACACAAAAGATTACCCGTCCAATCAAGAGACACACAACTCCACAGGCACACTCCACAGAACCGGGCACATACTCAACACACAGGCACACATAAAACACCCCTAGGCAAATGCACAGCAAATAAGGCCCTACACAACACACAGAGGTGTATGCACTTCTAGGTATTCACATCACCACTGGGACCCGTN
|
pathogenic
| 333,834 |
A genetic variant on chromosome X, position 47619726, affects the gene SYN1 (synapsin I). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Epilepsy,_X-linked_1,_with_variable_learning_disabilities_and_behavior_disorders']
|
AAAACAACAGGTCCTGCATATGTGCTCACTGGATCTACTGTTAAGAAAACAATTCTGGGGAGGAGGTGTGAATATACAGAACACACAGAAGACACTCCATAAATGCTCAGGGGAGCCATTGGAAGAAAAGGTCTTTGGGGGAGGATGATTAAAATGGAGCACATGACAGACAAGGAATAAATGCTCACTGGATCCATTAGAAGAAAAGGCCTTTGGGGAGTGGGGCTGGGGATGGACATATAGTCACCTGATCAAGGCTCACTGCATCCCTGAAGGAAAAGTCCTATGGGGAGGGGAAATGGGAGTGCAGAAAGTTGATCTATGGGAGCTCGATTCTTCATCCATAGGAGAAAAGGCTTTTGTGAAGAAGGCACACAATCAGGTACACAGCAGGTGCTCCATAAATACTCCAAGGAGTGATTAAAAGAAAAGGTCTTTGGAAAGAGTGACTGGAATGGTACACACAGCAAGTGCCAGATATCTGAGCACTGTATTAACTGGAGGCACAGGCCTTTATGGAGAGGTCTAAGGTTGGGTCATGCAGAAAGTGCTCAATACATGCAGACTGAAGCCACTGGAGGAAAGGGTATTGCAGAAAGGGTTTGAGGGTGGGGTATACAGCAGGCACCAGTCAATGCATGCTTGCTGAATACACTGGAGGAAAGAACTTTTAGAGAAGGCTCACACTGCAGGCAGTTGATAAATGCTAGATGGATCCACCAAAGGAAAGGTCTTTGAAGAAGTAGCTGGAGAACGGGGGATACAAGAGGCACTCAATAAATGTTTTCTAGATCCACTGTAGGGAAAGGTCTTTGAGGAGACGGTCTGAAGATGAGTCACACAAAGAAGGTTCAAAACTGCTCATGGAACTCACTGGAGGAAAATGATTTGTTTGAGAAGGGGTTTGGGGGTGCGGCACGTATCAGGCACTTAACAAATGCTTCCTAGATCCTTTGGAGAAAAGGCCCTCAGAGAGAGGGCTTGGAGTTGGGGCACAGAGAAGGCATCCAATCAAAACTCACAGGATCCATGAAAGGCAAAGCTTTTGGAGAGAAGCTGGGGTGGGATACACAGCAGGTACTCAATGTTTACTAAATAGTTTAAAAGGGCTTTAAGGACGGAGCTGGGGTGGGACACATAGCATAGACTGGACACATGCTCACAAGACCCATTAGAGAAGGCCTCAGGGCAAGGGTTGAGGAGAACAGGACAGTATCAGGCTCTCAAAGAATGCTCACAAACCTCATTGAAATCAAAGGCCTTGGGGAAGGGCTCTTGGATGAGGCATACTGCAGGTACTAGATAAGTGCTCACAAGATCCATTAGAGGACAAGGCCTATGGGGCAAGGGTTGGGGAGGGTAGGAAGGACACGTTCGGTTTTCGAAGGCTCATAGGATATATTGAAGCCAAAGACTTTTGGGGGAGGGGTAGTAGGGAACAGGTACGCAGCAGGTGCCTGATAATTGCTCCCTGGATCCATCAAGGTTTAAGGGGCGGAGGGGGGCGACAAGGGCGGGGCACAGAGGAAGCATCCAGCTTAATAATTTAAAGGAAAAAGATTTAGGTGAGAGGGCCAGGTGTCAGGCACACAAGCGGCGCTCGATAATTGCTCATTCGCAGAAGAACGATCTGGGGACCCAGGCCCACGGGAGACGTCCGCGGCAGTGGCTTACCAGTCGGTGTGCGGCTCGTCGATGACCAGCAGCACCCTGGAGGCGGCTCCCCCGCGGCCTGCGCCCCCAGAGCCGCCGCCCACCTGCTCGCTGAAGGTGGCAGCTGCCGCCGCCGTGGTCTGCTTGACCGCGTTGGACAGCGACGAGAAGAAGCCACCGCCCCCCGAGGACCCGGGGCTAGGGGCGGCCGGAGAGGCCGCTGGGGCGACCCCGGAGGACCTCTCGGCAGTGGCGGTCCCGGGACCGGGCGTGGCTCCGGGGCTGTGGGCACCGGGCGGCGGTGGGGGCGGCTGCGGACGCTGCAGGTCTGTCATGTACCCATTTGGCAGATTGGCCATAAAGTTGCTGTCCGACAGGCGGCGCCGCAGGTAGTTCATGGCTGCGACTTGGGGCAGGGGGTCCTAGGGGTGGTCTGGCCAGGAGCCGCGGGGGCGGACTGCGCGGTGCCCAGGAGCACAGCTGCGCTCTCAGGCACGACACGACTCCTCCGCTGCCCACCGCAGACTGAGGCAGCGCTGAGTCGCCGGCGCCGCAGCGCAGATGGTCGCGCCCGTGCCCCCCTATCTCGCGCCTCGCGTGGTGCGGTCCGGCTGGGCCGGCGGCGGCGCGGACGCGACCAAGGTGGCCGGGAAGGGGAGTTTGCGGGGGACCGGCGAGTGACGTCAGCGCGCCTTCAGTGCTGAGGCGGCGGTGGCGCGCGCCGCCAGGCGGGGGCGAAGGCACTGTCCGCGGTGCTGAAGCTGGCAGTGCGCACGCGCCTCGCCGCATCCTGTTTCCCCTCCCCCTCTCTGATAGGGGATGCGCAATTTGGGGAATGGGGGTTGGGTGCTTGTCCAGTGGGTCGGGGTCGGTCGTCAGGTAGGCACCCCCACCCCGCCTCATCCTGGTCCTAAAACCCACTTGCACTCATACGCAGGGCCCTCTGCAGATACTCGGTTTGTAGTGTTGATATTCAACTCAGAAGGCATTTTTTGGGGGGAGGGGGGCACTGGAAGCACACTCAGAGACACGAAAGTAGAGAAATAACCCCCTCACAGAGGGGGGTGAGGTCACACGCAGTGCCCGCGGGGAGATTAGTCTCCCACATCCACACAGGCTCAGCTAGGCAGAGAGCGGGGGCGTCACAGACAGCATCAGACAAGCGGAGGTGGACACTTGGGTGGTGTACACACCCTTGCCCAAGGTGGCAAGGGGGGCCTGGAGGCACACAAGAAATGACACACATATAAACACACACAAAAGTGAGGAAACATACGAGGGCATGTACAGACAGAACACACGCCAATCTAGGTATACATACAGACATACAAGTCCAGAGTAACACACATGGGCATGTTACATACATGCATGCATACACCCATACCCCCACACACACAGGTAACACACTGACACACAGAGACCCAGGGAAACTCATATGAGCATACACTTGCAGACAAAACACATTCCCACCGATGATCATGGAGAAACCTAGATCTGCAACACAGACATTCTCTGCAGCCCTAGCCCTGGTGCGTGTCCACCCCCACACCAGAACACACTTGGTATATACGCCACCATCCCTTTGCTCTGGACACCGCCAAAACTCACGATAACTACCTGATGTCATCAGTGCCCATGGCTGTCTCCCCCTGCACCCAAGAACTTTCCACAGAGGCAGGCCCATCCCATGGTGCACACACAGTAGGTACCAAATAATGTTTGCATATGAGCAAATGAGGTAGTCCAAGCAGAGGTGGGATATGGGAACCTGTCAAATCTTTATGATTCTGACTACAATAAAAGCACTAATTCATAATCATTTGTTCACTGATTGTACCCAACTCTTAACTAAGCTGTTTACATGCATCATTTCATCCAACCCTCACAACAATCCAGTGGGGTGGATAATATAATGTCTATTTTACAGATGAGGGAATACAAGAACTCCAGTTAATTCCCAAAGGGTCATGTTCACTTTATGATCAACACATTTTTTTAAGAATGTGCCAGGAAGAGGAAACATCCAGTGCCAATGTGGCTGGAACAAGCTGAAGGGGGTTGTGGTAGCAGGGGCCAGATTGGGTAGGACCTTGACCATAGTGAGCAGTGATGGTGGACTAGGAGAGGTGGCAGAAGATAGGCAAGAAGTAAGTAGATATGGAGTCTCTTTTGCCTGCAGAATTTTCAGGTGACTCATCCACTTATTCATTTGTTCATCCTTTATTCATTAAATCATTGGCTGGTTTAAACAAGGCAGTAATAGTGTGGGGTCTGGAGACACAGTGCCTGGGTTCAAGTGGGGCCTCCACCATACACTTGGGAAAGTGACTTAATCTTTCTGAGATTTGGTTTCCTCATCTGTAAAAAGGATACATCTCTAACCCACCTCTAAGGAGAGGGGTAGGAAGGGGGCAACCTCTGTACCTTTGCATGTGTTGTAACT
|
AAAACAACAGGTCCTGCATATGTGCTCACTGGATCTACTGTTAAGAAAACAATTCTGGGGAGGAGGTGTGAATATACAGAACACACAGAAGACACTCCATAAATGCTCAGGGGAGCCATTGGAAGAAAAGGTCTTTGGGGGAGGATGATTAAAATGGAGCACATGACAGACAAGGAATAAATGCTCACTGGATCCATTAGAAGAAAAGGCCTTTGGGGAGTGGGGCTGGGGATGGACATATAGTCACCTGATCAAGGCTCACTGCATCCCTGAAGGAAAAGTCCTATGGGGAGGGGAAATGGGAGTGCAGAAAGTTGATCTATGGGAGCTCGATTCTTCATCCATAGGAGAAAAGGCTTTTGTGAAGAAGGCACACAATCAGGTACACAGCAGGTGCTCCATAAATACTCCAAGGAGTGATTAAAAGAAAAGGTCTTTGGAAAGAGTGACTGGAATGGTACACACAGCAAGTGCCAGATATCTGAGCACTGTATTAACTGGAGGCACAGGCCTTTATGGAGAGGTCTAAGGTTGGGTCATGCAGAAAGTGCTCAATACATGCAGACTGAAGCCACTGGAGGAAAGGGTATTGCAGAAAGGGTTTGAGGGTGGGGTATACAGCAGGCACCAGTCAATGCATGCTTGCTGAATACACTGGAGGAAAGAACTTTTAGAGAAGGCTCACACTGCAGGCAGTTGATAAATGCTAGATGGATCCACCAAAGGAAAGGTCTTTGAAGAAGTAGCTGGAGAACGGGGGATACAAGAGGCACTCAATAAATGTTTTCTAGATCCACTGTAGGGAAAGGTCTTTGAGGAGACGGTCTGAAGATGAGTCACACAAAGAAGGTTCAAAACTGCTCATGGAACTCACTGGAGGAAAATGATTTGTTTGAGAAGGGGTTTGGGGGTGCGGCACGTATCAGGCACTTAACAAATGCTTCCTAGATCCTTTGGAGAAAAGGCCCTCAGAGAGAGGGCTTGGAGTTGGGGCACAGAGAAGGCATCCAATCAAAACTCACAGGATCCATGAAAGGCAAAGCTTTTGGAGAGAAGCTGGGGTGGGATACACAGCAGGTACTCAATGTTTACTAAATAGTTTAAAAGGGCTTTAAGGACGGAGCTGGGGTGGGACACATAGCATAGACTGGACACATGCTCACAAGACCCATTAGAGAAGGCCTCAGGGCAAGGGTTGAGGAGAACAGGACAGTATCAGGCTCTCAAAGAATGCTCACAAACCTCATTGAAATCAAAGGCCTTGGGGAAGGGCTCTTGGATGAGGCATACTGCAGGTACTAGATAAGTGCTCACAAGATCCATTAGAGGACAAGGCCTATGGGGCAAGGGTTGGGGAGGGTAGGAAGGACACGTTCGGTTTTCGAAGGCTCATAGGATATATTGAAGCCAAAGACTTTTGGGGGAGGGGTAGTAGGGAACAGGTACGCAGCAGGTGCCTGATAATTGCTCCCTGGATCCATCAAGGTTTAAGGGGCGGAGGGGGGCGACAAGGGCGGGGCACAGAGGAAGCATCCAGCTTAATAATTTAAAGGAAAAAGATTTAGGTGAGAGGGCCAGGTGTCAGGCACACAAGCGGCGCTCGATAATTGCTCATTCGCAGAAGAACGATCTGGGGACCCAGGCCCACGGGAGACGTCCGCGGCAGTGGCTTACCAGTCGGTGTGCGGCTCGTCGATGACCAGCAGCACCCTGGAGGCGGCTCCCCCGCGGCCTGCGCCCCCAGAGCCGCCGCCCACCTGCTCGCTGAAGGTGGCAGCTGCCGCCGCCGTGGTCTGCTTGACCGCGTTGGACAGCGACGAGAAGAAGCCACCGCCCCCCGAGGACCCGGGGCTAGGGGCGGCCGGAGAGGCCGCTGGGGCGACCCCGGAGGACCTCTCGGCAGTGGCGGTCCCGGGACCGGGCGTGGCTCCGGGGCTGTGGGCACCGGGCGGCGGTGGGGGCGGCTGCGGACGCTGCAGGTCTGTCATGTACCCATTTGGCAGATTGGCCATAAAGTTGCTGTCCGACAGGCGGCGCCGCAGGTAGTTCTGGCTGCGACTTGGGGCAGGGGGTCCTAGGGGTGGTCTGGCCAGGAGCCGCGGGGGCGGACTGCGCGGTGCCCAGGAGCACAGCTGCGCTCTCAGGCACGACACGACTCCTCCGCTGCCCACCGCAGACTGAGGCAGCGCTGAGTCGCCGGCGCCGCAGCGCAGATGGTCGCGCCCGTGCCCCCCTATCTCGCGCCTCGCGTGGTGCGGTCCGGCTGGGCCGGCGGCGGCGCGGACGCGACCAAGGTGGCCGGGAAGGGGAGTTTGCGGGGGACCGGCGAGTGACGTCAGCGCGCCTTCAGTGCTGAGGCGGCGGTGGCGCGCGCCGCCAGGCGGGGGCGAAGGCACTGTCCGCGGTGCTGAAGCTGGCAGTGCGCACGCGCCTCGCCGCATCCTGTTTCCCCTCCCCCTCTCTGATAGGGGATGCGCAATTTGGGGAATGGGGGTTGGGTGCTTGTCCAGTGGGTCGGGGTCGGTCGTCAGGTAGGCACCCCCACCCCGCCTCATCCTGGTCCTAAAACCCACTTGCACTCATACGCAGGGCCCTCTGCAGATACTCGGTTTGTAGTGTTGATATTCAACTCAGAAGGCATTTTTTGGGGGGAGGGGGGCACTGGAAGCACACTCAGAGACACGAAAGTAGAGAAATAACCCCCTCACAGAGGGGGGTGAGGTCACACGCAGTGCCCGCGGGGAGATTAGTCTCCCACATCCACACAGGCTCAGCTAGGCAGAGAGCGGGGGCGTCACAGACAGCATCAGACAAGCGGAGGTGGACACTTGGGTGGTGTACACACCCTTGCCCAAGGTGGCAAGGGGGGCCTGGAGGCACACAAGAAATGACACACATATAAACACACACAAAAGTGAGGAAACATACGAGGGCATGTACAGACAGAACACACGCCAATCTAGGTATACATACAGACATACAAGTCCAGAGTAACACACATGGGCATGTTACATACATGCATGCATACACCCATACCCCCACACACACAGGTAACACACTGACACACAGAGACCCAGGGAAACTCATATGAGCATACACTTGCAGACAAAACACATTCCCACCGATGATCATGGAGAAACCTAGATCTGCAACACAGACATTCTCTGCAGCCCTAGCCCTGGTGCGTGTCCACCCCCACACCAGAACACACTTGGTATATACGCCACCATCCCTTTGCTCTGGACACCGCCAAAACTCACGATAACTACCTGATGTCATCAGTGCCCATGGCTGTCTCCCCCTGCACCCAAGAACTTTCCACAGAGGCAGGCCCATCCCATGGTGCACACACAGTAGGTACCAAATAATGTTTGCATATGAGCAAATGAGGTAGTCCAAGCAGAGGTGGGATATGGGAACCTGTCAAATCTTTATGATTCTGACTACAATAAAAGCACTAATTCATAATCATTTGTTCACTGATTGTACCCAACTCTTAACTAAGCTGTTTACATGCATCATTTCATCCAACCCTCACAACAATCCAGTGGGGTGGATAATATAATGTCTATTTTACAGATGAGGGAATACAAGAACTCCAGTTAATTCCCAAAGGGTCATGTTCACTTTATGATCAACACATTTTTTTAAGAATGTGCCAGGAAGAGGAAACATCCAGTGCCAATGTGGCTGGAACAAGCTGAAGGGGGTTGTGGTAGCAGGGGCCAGATTGGGTAGGACCTTGACCATAGTGAGCAGTGATGGTGGACTAGGAGAGGTGGCAGAAGATAGGCAAGAAGTAAGTAGATATGGAGTCTCTTTTGCCTGCAGAATTTTCAGGTGACTCATCCACTTATTCATTTGTTCATCCTTTATTCATTAAATCATTGGCTGGTTTAAACAAGGCAGTAATAGTGTGGGGTCTGGAGACACAGTGCCTGGGTTCAAGTGGGGCCTCCACCATACACTTGGGAAAGTGACTTAATCTTTCTGAGATTTGGTTTCCTCATCTGTAAAAAGGATACATCTCTAACCCACCTCTAAGGAGAGGGGTAGGAAGGGGGCAACCTCTGTACCTTTGCATGTGTTGTAACTN
|
pathogenic
| 333,857 |
For chromosome X, position 48514624, gene PORCN (porcupine O-acyltransferase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Focal_dermal_hypoplasia']
|
TTGATCCCTACAGAGCTGCCGGTGGCTGCAGAAGGTGGCCCGGAGCCTGGCACTGGCCCTGCTGTGCCTTGTGCTGTCCACTTGCGTGGGCCCCTACCTCTTCCCGTACTTCATCCCCCTCAACGGTGACCGCCTCCTTCGCAAGTGAGCACAGCCTTCGAGGCCCCTGCCCAGCAATGAGGGGGTTGGGTAGGGACCCGCGGTTTCCCCAGTTCTGAGCCTGTCTCTTAATGCTTCTTTCTGTCTTCTGTTACTACAGCAAGAAACGCAAAGCCAGGTAAATGAGGGCAGGTGTGAGGGCACGTGGAGTGGGGCTGACATGAGTGGGGGCAGAGCCCATGACCAATGGGTTCTGTGTGTCCAAGTGTGTCTGACCGTCAACTCCATGACTAGACAGAGACTGTGGTTGGCTGGCTGGCTGACGAAGCTTGGCTCTGTGACTCTGTTTGACTGACACTCCAACACATACTGTCTCTGGCTGTCCATCTGTTCAGCTGTCTCGCTGTTAGAAGCAAGTCATATTAACTGTCATGGAGAGTGACAAGTATGTGTTGGTTGGGTGACTTTAACCTGTCAGTGACTCTGTCTAGGGATATGTATGATGTATGTTTGTCTATTGGCCACTGACCCCCGAATGTAAGCCTGTGTGGCTGTCTGGCTGTGCCATCATCAGTGATAGGGTATGTGGCTGTCATTGGATAAGATAAATCTGTGTTCAAGATTCTGACTTTTTGTAGCTTTGGCCAGGAATGGGTCTGACTGTGGCATGTCATATGCCTGTCTGTGGAGTTCATGGACTACCTCTGCCTGTGTGTCTGCCTTCCCTGATGGCTTGGTGTTGTCTAGCTGAGGGGTTGTACCCGACTCTGGTCTGTGCCTGTCTGCAGGACTGACTGCCTCTAGTTTGACTATAGGGTTTGATCTGGCTCTTTGGTTGTATGGCCCCTCCCCTACTCCCTGGCTGCTGATTAGGTCTAATGCCGAATGAGTCTCCAAAAGGTCAAGTGACTTGACCAGTGTCACCCAGCTAAGCAGCCAGGCATGAATCCCAGGCCTAACTTCAGAACCTATGCTTTTTCCAACGCAGGATGCTGCCTGTTTTTGACCATGTCTGATTACAACTAGTAGGGGGGGTGTGTGTGTGCACAGCAGGGTGTTTGATGGTCTCTGTGCCCAGCTCAGGGATTTTTGGCTGTCCTGTAGTCGCTGAGTCAGGTTAGAGCATTGCAAGGCTGGGAGTCTGATAAGATTTGTGTCTGGCTGTTAGAGGGTGCAGGTCTGTGAAGTCGGGCCTCTGATGGTGGCTGGCTTTGGCCGTCTGGCCACGTGAGCCTGCAGGGCCATGCCATATTATAGGATAGCTCATGCATCCATTTGAGCCACATAAGACTAACTGCCTGAGGGTGGATGTCTGTGTGTGACTATCATAGTTCACCTTTTTTGTGGCTACATTTCATCTGTCTTGTCTGAACAATTCAGACCAGCCTCCAGGGCCTCTCTGACTCTCTTTTCTTTCTTCTCTGCTGCCTTCCTGACCCCTGGGGGCCCTAGGGGCACCATGGTAAGGTGAGTCTACAGAGCGGGGCCCAGGATGCTGACATGTGGTGGGGTATCATGTTGGGACCTGAACGTGATGCCTCTCACCCCTGCCCCTTTCTCCCCAGGTGGCTGCGAGCCTACGAGAGTGCTGTCTCCTTCCACTTCAGCAACTATTTTGTGGGCTTTCTTTCCGAGGCCACGGCCACGTTGGCGGGGGCTGGCTTTACCGAGGAGAAGGATCACCTGGAATGGTGGGGGGGCTTGGGGACCCCCTCTCCCACAGGGTGCTGCCTAGAGGAGCTGCAGGGAGGAGGGCGGGTGCTCCCAGGGGAGGGAACGGCCAAGACAGAAGTGTGGCGGTCAGATGAGTTGAGATCCCAAATGGATTTGCATATCTCTTCTGCCCCCAGGGACCTGACGGTGTCCAAGCCACTGAATGTGGAGCTGCCTCGGTCAATGGTGGAAGTTGTCACAAGCTGGAACCTGCCCATGTCTTATTGGCTAAATAACTGTGAGTCACCAAGTCACCACTCCAGCTGTGTTGGTAATCCAGGCCCTTTCATACATTCATACAACATTTACTGAGCACCTTCTGTGTGCTAGGCACCCAAAATCCCTACCCTTGTCGAGCTGCAGTTCTCCTGGGGGGGCAGATGATAAATACGAGAAAAAAAATACATAATAGCTCAGGTGTTGATAAGTGCTATGGTTAAAAAAAAAAATTTTTAAAAAAGCAGGTAAAGGTGATCCAGGAGTGCTGGCAGGAGATAGGAGTGGGGAGGGTAGGGTATTGCAATTGTAAAAAAATTAGCCAGGGCAAGTCTCCCTGAGGAGGTGACATTGGAGCAAAGATGCAAAACAGGTGAGGGAGCAGGGAGCGCAGATATATGGGGGAGGATTGTAACAGATGCGGGGACAGCAGGTGCAAAGGTCCTGAGGCGGGAACTTGCCTGGTGTGTGGGGAACAGCAAGAAGGCCAGCAGGGCAGGAGCAGAGTGAGCCAGGGTCCAGTGGCAGGCGGTGAGGTCAGGGAAGGCCCGGAGGGCCTCATGGGCCATGGAGAGGACTTTGGCTTTTTCTCTGAGAGAGATGAGAGCCACGGCAGGGCTCTGAGCAGAGGAGGGCCCTGGGCTGACTCGGGTTGCAGCAGGATCCCTCTGGCTGCTGTGAGGACAGACTGAGAAGAGGGATCGAGGATGCAGCAGTGAGGAGGCCGCTGCCATCATCCAGGCCAGTGATGGTGGTGGTGGCAGTGGATGTGGAGAGGAGAGCTCAGATTCTGGCATATTCTGAAGGTGGAACTCACACAATTTGCTGAATTTGGATGTGGGAGTTTGGGGAGGGCAAATCAAGGGTAATTCCCAGGTTTTTGCCCTGAGGAACTGGAAACGTGGAGTTGACATTGACTGAACTTGATGAGACTGGGAGGAGCAGGCTGGGAAGATCGGGAGCTGGGCTTTGGGCATGTGAAGTTTGAGGCCATCTAAGGACTTTATCCTGGGGGCTCCAACAGGTTGTGGGTATTCTCATCCTGCTGATGGCCCTCCAGGAGGGGCTGGGGGACTTTCAGGAGAATTTTATCCCACATCTCTTCCCCTCCAGATGTTTTCAAGAATGCTCTCCGCCTGGGGACCTTCTCGGCTGTGCTGGTCACCTATGCAGCCAGCGCCCTCCTACATGTGAGCAGGGTGGAGCAGGATCAGGGTGGAAGCTGGGTGGGGGCGGGTGGCAGGGCCTCTTCCTCACTCATTTCATTGTCATCTGCATTCCCCCAGGGCTTCAGTTTCCACCTGGCTGCGGTCCTGCTGTCCCTGGCTTTTATCACTTACGTGGAGCATGGTGAGTGCAGGGCCCAGCCCAGCCGTTGGATAGAAGGTTGGTGGGGGGGCTGGAGACAGCCTCCCCTGAGGCTAACCTGACCCCCTTACCTCTCCCCACCACCCTAGTCCTCCGGAAGCGCCTGGCTCGGATCCTCAGTGCCTGTGTCTTGTCAAAGCGGTGCCCGCCAGACTGTTCGCACCAGCATCGCTTGGTGAGGGTTCAGCCTGGGCAACCTTGTGCCCAACACTCCCTGTCAAAAATGTTCCTTCTATCTCTATCTTGTATGTGTCTCAGGGTGCCCACCTTCTTCTTTTGGTGCCTGAGCCATCCCCATAACCTCTCCTCTATTCGCTGGCATCCGTTTCCCTAACAGGCATTTATCGAGCATCTGCTGTATACACACCTGGCATTCGTTTCCCCCAGTGAACATCCGTTGAGTGCCTGTTGGTGCTCTAGGTGCTGGAGACACGGTGAATGAAACAGACTGAAGTCCCAGCCCTATGGGACAAACATTTTAACCGGGCAGACAGTAGATAAAAAATGAGTCAGTAAAGTCTAATAATAGTGTGTCAGATTGCAAGTAGTGCTAAGGAGAAAATGTGTAGGGCAAAGGGGACGGGAAGTATGGGGGTGATTTCCATTTGAAATAGGGAGGTCAGAGAAGCCTCCCTGGTGAGGTGATGTTTGAGGCCTTTAACCGAAGGAGGTGAGAGAGGGAAACGTTCCAGGCAGAGAG
|
TTGATCCCTACAGAGCTGCCGGTGGCTGCAGAAGGTGGCCCGGAGCCTGGCACTGGCCCTGCTGTGCCTTGTGCTGTCCACTTGCGTGGGCCCCTACCTCTTCCCGTACTTCATCCCCCTCAACGGTGACCGCCTCCTTCGCAAGTGAGCACAGCCTTCGAGGCCCCTGCCCAGCAATGAGGGGGTTGGGTAGGGACCCGCGGTTTCCCCAGTTCTGAGCCTGTCTCTTAATGCTTCTTTCTGTCTTCTGTTACTACAGCAAGAAACGCAAAGCCAGGTAAATGAGGGCAGGTGTGAGGGCACGTGGAGTGGGGCTGACATGAGTGGGGGCAGAGCCCATGACCAATGGGTTCTGTGTGTCCAAGTGTGTCTGACCGTCAACTCCATGACTAGACAGAGACTGTGGTTGGCTGGCTGGCTGACGAAGCTTGGCTCTGTGACTCTGTTTGACTGACACTCCAACACATACTGTCTCTGGCTGTCCATCTGTTCAGCTGTCTCGCTGTTAGAAGCAAGTCATATTAACTGTCATGGAGAGTGACAAGTATGTGTTGGTTGGGTGACTTTAACCTGTCAGTGACTCTGTCTAGGGATATGTATGATGTATGTTTGTCTATTGGCCACTGACCCCCGAATGTAAGCCTGTGTGGCTGTCTGGCTGTGCCATCATCAGTGATAGGGTATGTGGCTGTCATTGGATAAGATAAATCTGTGTTCAAGATTCTGACTTTTTGTAGCTTTGGCCAGGAATGGGTCTGACTGTGGCATGTCATATGCCTGTCTGTGGAGTTCATGGACTACCTCTGCCTGTGTGTCTGCCTTCCCTGATGGCTTGGTGTTGTCTAGCTGAGGGGTTGTACCCGACTCTGGTCTGTGCCTGTCTGCAGGACTGACTGCCTCTAGTTTGACTATAGGGTTTGATCTGGCTCTTTGGTTGTATGGCCCCTCCCCTACTCCCTGGCTGCTGATTAGGTCTAATGCCGAATGAGTCTCCAAAAGGTCAAGTGACTTGACCAGTGTCACCCAGCTAAGCAGCCAGGCATGAATCCCAGGCCTAACTTCAGAACCTATGCTTTTTCCAACGCAGGATGCTGCCTGTTTTTGACCATGTCTGATTACAACTAGTAGGGGGGGTGTGTGTGTGCACAGCAGGGTGTTTGATGGTCTCTGTGCCCAGCTCAGGGATTTTTGGCTGTCCTGTAGTCGCTGAGTCAGGTTAGAGCATTGCAAGGCTGGGAGTCTGATAAGATTTGTGTCTGGCTGTTAGAGGGTGCAGGTCTGTGAAGTCGGGCCTCTGATGGTGGCTGGCTTTGGCCGTCTGGCCACGTGAGCCTGCAGGGCCATGCCATATTATAGGATAGCTCATGCATCCATTTGAGCCACATAAGACTAACTGCCTGAGGGTGGATGTCTGTGTGTGACTATCATAGTTCACCTTTTTTGTGGCTACATTTCATCTGTCTTGTCTGAACAATTCAGACCAGCCTCCAGGGCCTCTCTGACTCTCTTTTCTTTCTTCTCTGCTGCCTTCCTGACCCCTGGGGGCCCTAGGGGCACCATGGTAAGGTGAGTCTACAGAGCGGGGCCCAGGATGCTGACATGTGGTGGGGTATCATGTTGGGACCTGAACGTGATGCCTCTCACCCCTGCCCCTTTCTCCCCAGGTGGCTGCGAGCCTACGAGAGTGCTGTCTCCTTCCACTTCAGCAACTATTTTGTGGGCTTTCTTTCCGAGGCCACGGCCACGTTGGCGGGGGCTGGCTTTACCGAGGAGAAGGATCACCTGGAATGGTGGGGGGGCTTGGGGACCCCCTCTCCCACAGGGTGCTGCCTAGAGGAGCTGCAGGGAGGAGGGCGGGTGCTCCCAGGGGAGGGAACGGCCAAGACAGAAGTGTGGCGGTCAGATGAGTTGAGATCCCAAATGGATTTGCATATCTCTTCTGCCCCCAGGGACCTGACGGTGTCCAAGCCACTGAATGTGGAGCTGCCTCGGTCAATGGTGGAAGTTGTCACAAGCTGGAACCTGCCCATGTCTTATTGGCTAAATAACTGAGTCACCAAGTCACCACTCCAGCTGTGTTGGTAATCCAGGCCCTTTCATACATTCATACAACATTTACTGAGCACCTTCTGTGTGCTAGGCACCCAAAATCCCTACCCTTGTCGAGCTGCAGTTCTCCTGGGGGGGCAGATGATAAATACGAGAAAAAAAATACATAATAGCTCAGGTGTTGATAAGTGCTATGGTTAAAAAAAAAAATTTTTAAAAAAGCAGGTAAAGGTGATCCAGGAGTGCTGGCAGGAGATAGGAGTGGGGAGGGTAGGGTATTGCAATTGTAAAAAAATTAGCCAGGGCAAGTCTCCCTGAGGAGGTGACATTGGAGCAAAGATGCAAAACAGGTGAGGGAGCAGGGAGCGCAGATATATGGGGGAGGATTGTAACAGATGCGGGGACAGCAGGTGCAAAGGTCCTGAGGCGGGAACTTGCCTGGTGTGTGGGGAACAGCAAGAAGGCCAGCAGGGCAGGAGCAGAGTGAGCCAGGGTCCAGTGGCAGGCGGTGAGGTCAGGGAAGGCCCGGAGGGCCTCATGGGCCATGGAGAGGACTTTGGCTTTTTCTCTGAGAGAGATGAGAGCCACGGCAGGGCTCTGAGCAGAGGAGGGCCCTGGGCTGACTCGGGTTGCAGCAGGATCCCTCTGGCTGCTGTGAGGACAGACTGAGAAGAGGGATCGAGGATGCAGCAGTGAGGAGGCCGCTGCCATCATCCAGGCCAGTGATGGTGGTGGTGGCAGTGGATGTGGAGAGGAGAGCTCAGATTCTGGCATATTCTGAAGGTGGAACTCACACAATTTGCTGAATTTGGATGTGGGAGTTTGGGGAGGGCAAATCAAGGGTAATTCCCAGGTTTTTGCCCTGAGGAACTGGAAACGTGGAGTTGACATTGACTGAACTTGATGAGACTGGGAGGAGCAGGCTGGGAAGATCGGGAGCTGGGCTTTGGGCATGTGAAGTTTGAGGCCATCTAAGGACTTTATCCTGGGGGCTCCAACAGGTTGTGGGTATTCTCATCCTGCTGATGGCCCTCCAGGAGGGGCTGGGGGACTTTCAGGAGAATTTTATCCCACATCTCTTCCCCTCCAGATGTTTTCAAGAATGCTCTCCGCCTGGGGACCTTCTCGGCTGTGCTGGTCACCTATGCAGCCAGCGCCCTCCTACATGTGAGCAGGGTGGAGCAGGATCAGGGTGGAAGCTGGGTGGGGGCGGGTGGCAGGGCCTCTTCCTCACTCATTTCATTGTCATCTGCATTCCCCCAGGGCTTCAGTTTCCACCTGGCTGCGGTCCTGCTGTCCCTGGCTTTTATCACTTACGTGGAGCATGGTGAGTGCAGGGCCCAGCCCAGCCGTTGGATAGAAGGTTGGTGGGGGGGCTGGAGACAGCCTCCCCTGAGGCTAACCTGACCCCCTTACCTCTCCCCACCACCCTAGTCCTCCGGAAGCGCCTGGCTCGGATCCTCAGTGCCTGTGTCTTGTCAAAGCGGTGCCCGCCAGACTGTTCGCACCAGCATCGCTTGGTGAGGGTTCAGCCTGGGCAACCTTGTGCCCAACACTCCCTGTCAAAAATGTTCCTTCTATCTCTATCTTGTATGTGTCTCAGGGTGCCCACCTTCTTCTTTTGGTGCCTGAGCCATCCCCATAACCTCTCCTCTATTCGCTGGCATCCGTTTCCCTAACAGGCATTTATCGAGCATCTGCTGTATACACACCTGGCATTCGTTTCCCCCAGTGAACATCCGTTGAGTGCCTGTTGGTGCTCTAGGTGCTGGAGACACGGTGAATGAAACAGACTGAAGTCCCAGCCCTATGGGACAAACATTTTAACCGGGCAGACAGTAGATAAAAAATGAGTCAGTAAAGTCTAATAATAGTGTGTCAGATTGCAAGTAGTGCTAAGGAGAAAATGTGTAGGGCAAAGGGGACGGGAAGTATGGGGGTGATTTCCATTTGAAATAGGGAGGTCAGAGAAGCCTCCCTGGTGAGGTGATGTTTGAGGCCTTTAACCGAAGGAGGTGAGAGAGGGAAACGTTCCAGGCAGAGAGNN
|
pathogenic
| 333,911 |
The mutation impacting PORCN (porcupine O-acyltransferase) on chromosome X at position 48515941: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Focal_dermal_hypoplasia']
|
TCTGGCCACGTGAGCCTGCAGGGCCATGCCATATTATAGGATAGCTCATGCATCCATTTGAGCCACATAAGACTAACTGCCTGAGGGTGGATGTCTGTGTGTGACTATCATAGTTCACCTTTTTTGTGGCTACATTTCATCTGTCTTGTCTGAACAATTCAGACCAGCCTCCAGGGCCTCTCTGACTCTCTTTTCTTTCTTCTCTGCTGCCTTCCTGACCCCTGGGGGCCCTAGGGGCACCATGGTAAGGTGAGTCTACAGAGCGGGGCCCAGGATGCTGACATGTGGTGGGGTATCATGTTGGGACCTGAACGTGATGCCTCTCACCCCTGCCCCTTTCTCCCCAGGTGGCTGCGAGCCTACGAGAGTGCTGTCTCCTTCCACTTCAGCAACTATTTTGTGGGCTTTCTTTCCGAGGCCACGGCCACGTTGGCGGGGGCTGGCTTTACCGAGGAGAAGGATCACCTGGAATGGTGGGGGGGCTTGGGGACCCCCTCTCCCACAGGGTGCTGCCTAGAGGAGCTGCAGGGAGGAGGGCGGGTGCTCCCAGGGGAGGGAACGGCCAAGACAGAAGTGTGGCGGTCAGATGAGTTGAGATCCCAAATGGATTTGCATATCTCTTCTGCCCCCAGGGACCTGACGGTGTCCAAGCCACTGAATGTGGAGCTGCCTCGGTCAATGGTGGAAGTTGTCACAAGCTGGAACCTGCCCATGTCTTATTGGCTAAATAACTGTGAGTCACCAAGTCACCACTCCAGCTGTGTTGGTAATCCAGGCCCTTTCATACATTCATACAACATTTACTGAGCACCTTCTGTGTGCTAGGCACCCAAAATCCCTACCCTTGTCGAGCTGCAGTTCTCCTGGGGGGGCAGATGATAAATACGAGAAAAAAAATACATAATAGCTCAGGTGTTGATAAGTGCTATGGTTAAAAAAAAAAATTTTTAAAAAAGCAGGTAAAGGTGATCCAGGAGTGCTGGCAGGAGATAGGAGTGGGGAGGGTAGGGTATTGCAATTGTAAAAAAATTAGCCAGGGCAAGTCTCCCTGAGGAGGTGACATTGGAGCAAAGATGCAAAACAGGTGAGGGAGCAGGGAGCGCAGATATATGGGGGAGGATTGTAACAGATGCGGGGACAGCAGGTGCAAAGGTCCTGAGGCGGGAACTTGCCTGGTGTGTGGGGAACAGCAAGAAGGCCAGCAGGGCAGGAGCAGAGTGAGCCAGGGTCCAGTGGCAGGCGGTGAGGTCAGGGAAGGCCCGGAGGGCCTCATGGGCCATGGAGAGGACTTTGGCTTTTTCTCTGAGAGAGATGAGAGCCACGGCAGGGCTCTGAGCAGAGGAGGGCCCTGGGCTGACTCGGGTTGCAGCAGGATCCCTCTGGCTGCTGTGAGGACAGACTGAGAAGAGGGATCGAGGATGCAGCAGTGAGGAGGCCGCTGCCATCATCCAGGCCAGTGATGGTGGTGGTGGCAGTGGATGTGGAGAGGAGAGCTCAGATTCTGGCATATTCTGAAGGTGGAACTCACACAATTTGCTGAATTTGGATGTGGGAGTTTGGGGAGGGCAAATCAAGGGTAATTCCCAGGTTTTTGCCCTGAGGAACTGGAAACGTGGAGTTGACATTGACTGAACTTGATGAGACTGGGAGGAGCAGGCTGGGAAGATCGGGAGCTGGGCTTTGGGCATGTGAAGTTTGAGGCCATCTAAGGACTTTATCCTGGGGGCTCCAACAGGTTGTGGGTATTCTCATCCTGCTGATGGCCCTCCAGGAGGGGCTGGGGGACTTTCAGGAGAATTTTATCCCACATCTCTTCCCCTCCAGATGTTTTCAAGAATGCTCTCCGCCTGGGGACCTTCTCGGCTGTGCTGGTCACCTATGCAGCCAGCGCCCTCCTACATGTGAGCAGGGTGGAGCAGGATCAGGGTGGAAGCTGGGTGGGGGCGGGTGGCAGGGCCTCTTCCTCACTCATTTCATTGTCATCTGCATTCCCCCAGGGCTTCAGTTTCCACCTGGCTGCGGTCCTGCTGTCCCTGGCTTTTATCACTTACGTGGAGCATGGTGAGTGCAGGGCCCAGCCCAGCCGTTGGATAGAAGGTTGGTGGGGGGGCTGGAGACAGCCTCCCCTGAGGCTAACCTGACCCCCTTACCTCTCCCCACCACCCTAGTCCTCCGGAAGCGCCTGGCTCGGATCCTCAGTGCCTGTGTCTTGTCAAAGCGGTGCCCGCCAGACTGTTCGCACCAGCATCGCTTGGTGAGGGTTCAGCCTGGGCAACCTTGTGCCCAACACTCCCTGTCAAAAATGTTCCTTCTATCTCTATCTTGTATGTGTCTCAGGGTGCCCACCTTCTTCTTTTGGTGCCTGAGCCATCCCCATAACCTCTCCTCTATTCGCTGGCATCCGTTTCCCTAACAGGCATTTATCGAGCATCTGCTGTATACACACCTGGCATTCGTTTCCCCCAGTGAACATCCGTTGAGTGCCTGTTGGTGCTCTAGGTGCTGGAGACACGGTGAATGAAACAGACTGAAGTCCCAGCCCTATGGGACAAACATTTTAACCGGGCAGACAGTAGATAAAAAATGAGTCAGTAAAGTCTAATAATAGTGTGTCAGATTGCAAGTAGTGCTAAGGAGAAAATGTGTAGGGCAAAGGGGACGGGAAGTATGGGGGTGATTTCCATTTGAAATAGGGAGGTCAGAGAAGCCTCCCTGGTGAGGTGATGTTTGAGGCCTTTAACCGAAGGAGGTGAGAGAGGGAAACGTTCCAGGCAGAGAGACACCCAGTGGAAAGGCCCTGAGGTAGGAGAGGGCCTGGAATCTTTGAGGAATAGCAAGGCAGCCAGGGTGGCTTGAGCAGAGGTAGGGTGAGGAGGGGAGATGGGTGGGAGGCATGGGCCCTCTAGATCATGGTGGGGATTTGGTTTTGTTGTGTGTTTTTCATTCTGTTTGCAATAAGAAGTACAGACAACTTCATACTTGTCTCCCACCCAACTCCCGTTCATTACTATAAAGCCCTGACTCAAAGCCCTGCCACTCTTCCTCCTCTGCCTGGAGACTCGCACCTCCCCCAACCCAGGATGCCCTCACTGTGAACAGTACCCTCATCTTGGATGCCTCTGCATAGGAGGCTCCCTGAACCATCTCTTCCCTATCTCAGGGGGTACCCTGGGCATCCTCAGTCCTGGAACCCACTGTGCCCTGTGTGTCCCCTGGGCTCCCCCGTGCAGGAGGAGGTGGGACACAGTGAGTAGGTCCAGTTGCCAAGTATATCCATCTGTCCCCCACAGGGCCTGGGGGTGCGAGCCTTAAACTTGCTCTTTGGAGCTCTGGCCATCTTCCACCTGGCCTACCTGGGCTCCCTGTTTGATGTCGATGTGGATGACACCACAGAGGAGCAGGTGAGGTGGGGCCCTGGGCTGTGTGGTTAACCAAGGGTGGCGCTATCTGGCGGGGGGAAACCATGAGGACAAAGGCTGGGAAGCTGAGGCCTGAGCTCCTCAGACTGTGCTGCTTCGCCTGGGCAGCCAGTGCTCCTCGGTCCTTTCCCATAGTCCCTCTGCTTGAGTCACACTGTTAGGTCTTTTATTTGGGTGAAGTGTGCAAAATATGTTTATTTATTTTACTTATAAAATAACTTTTAGGCTGGGCATGCTGGCTCACGCCTACAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACCTGGCGAAACCCCGTCTCTACCAAAAATATAAAAAATTAGCCAGGCGTGATAGCATGCACCTGTAATTCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTCACAGTGAGCCCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTCTCAAAAAAAAAAATCACTTTATAGAGATGGAGTGGAAAATCCAGGTTTTACTTGTGTTAATTATTTCACTTCATTATTGTTTAGGTAGAATTTGCAAGACTTCTTAATTTTTTTTTTTTTTTTGAGACAAGGTCTGTCACCCAGGCTAAAGTGCAGTGGTGTGATCACGGCCCACTGCA
|
TCTGGCCACGTGAGCCTGCAGGGCCATGCCATATTATAGGATAGCTCATGCATCCATTTGAGCCACATAAGACTAACTGCCTGAGGGTGGATGTCTGTGTGTGACTATCATAGTTCACCTTTTTTGTGGCTACATTTCATCTGTCTTGTCTGAACAATTCAGACCAGCCTCCAGGGCCTCTCTGACTCTCTTTTCTTTCTTCTCTGCTGCCTTCCTGACCCCTGGGGGCCCTAGGGGCACCATGGTAAGGTGAGTCTACAGAGCGGGGCCCAGGATGCTGACATGTGGTGGGGTATCATGTTGGGACCTGAACGTGATGCCTCTCACCCCTGCCCCTTTCTCCCCAGGTGGCTGCGAGCCTACGAGAGTGCTGTCTCCTTCCACTTCAGCAACTATTTTGTGGGCTTTCTTTCCGAGGCCACGGCCACGTTGGCGGGGGCTGGCTTTACCGAGGAGAAGGATCACCTGGAATGGTGGGGGGGCTTGGGGACCCCCTCTCCCACAGGGTGCTGCCTAGAGGAGCTGCAGGGAGGAGGGCGGGTGCTCCCAGGGGAGGGAACGGCCAAGACAGAAGTGTGGCGGTCAGATGAGTTGAGATCCCAAATGGATTTGCATATCTCTTCTGCCCCCAGGGACCTGACGGTGTCCAAGCCACTGAATGTGGAGCTGCCTCGGTCAATGGTGGAAGTTGTCACAAGCTGGAACCTGCCCATGTCTTATTGGCTAAATAACTGTGAGTCACCAAGTCACCACTCCAGCTGTGTTGGTAATCCAGGCCCTTTCATACATTCATACAACATTTACTGAGCACCTTCTGTGTGCTAGGCACCCAAAATCCCTACCCTTGTCGAGCTGCAGTTCTCCTGGGGGGGCAGATGATAAATACGAGAAAAAAAATACATAATAGCTCAGGTGTTGATAAGTGCTATGGTTAAAAAAAAAAATTTTTAAAAAAGCAGGTAAAGGTGATCCAGGAGTGCTGGCAGGAGATAGGAGTGGGGAGGGTAGGGTATTGCAATTGTAAAAAAATTAGCCAGGGCAAGTCTCCCTGAGGAGGTGACATTGGAGCAAAGATGCAAAACAGGTGAGGGAGCAGGGAGCGCAGATATATGGGGGAGGATTGTAACAGATGCGGGGACAGCAGGTGCAAAGGTCCTGAGGCGGGAACTTGCCTGGTGTGTGGGGAACAGCAAGAAGGCCAGCAGGGCAGGAGCAGAGTGAGCCAGGGTCCAGTGGCAGGCGGTGAGGTCAGGGAAGGCCCGGAGGGCCTCATGGGCCATGGAGAGGACTTTGGCTTTTTCTCTGAGAGAGATGAGAGCCACGGCAGGGCTCTGAGCAGAGGAGGGCCCTGGGCTGACTCGGGTTGCAGCAGGATCCCTCTGGCTGCTGTGAGGACAGACTGAGAAGAGGGATCGAGGATGCAGCAGTGAGGAGGCCGCTGCCATCATCCAGGCCAGTGATGGTGGTGGTGGCAGTGGATGTGGAGAGGAGAGCTCAGATTCTGGCATATTCTGAAGGTGGAACTCACACAATTTGCTGAATTTGGATGTGGGAGTTTGGGGAGGGCAAATCAAGGGTAATTCCCAGGTTTTTGCCCTGAGGAACTGGAAACGTGGAGTTGACATTGACTGAACTTGATGAGACTGGGAGGAGCAGGCTGGGAAGATCGGGAGCTGGGCTTTGGGCATGTGAAGTTTGAGGCCATCTAAGGACTTTATCCTGGGGGCTCCAACAGGTTGTGGGTATTCTCATCCTGCTGATGGCCCTCCAGGAGGGGCTGGGGGACTTTCAGGAGAATTTTATCCCACATCTCTTCCCCTCCAGATGTTTTCAAGAATGCTCTCCGCCTGGGGACCTTCTCGGCTGTGCTGGTCACCTATGCAGCCAGCGCCCTCCTACATGTGAGCAGGGTGGAGCAGGATCAGGGTGGAAGCTGGGTGGGGGCGGGTGGCAGGGCCTCTTCCTCACTCATTTCATTGTCATCTGCATTCCCCCAGGGCTTCAGTTTCCACCTGGCTGCGGTCCTGCTGTCCCTGGCTTTTATCACTTAACGTGGAGCATGGTGAGTGCAGGGCCCAGCCCAGCCGTTGGATAGAAGGTTGGTGGGGGGGCTGGAGACAGCCTCCCCTGAGGCTAACCTGACCCCCTTACCTCTCCCCACCACCCTAGTCCTCCGGAAGCGCCTGGCTCGGATCCTCAGTGCCTGTGTCTTGTCAAAGCGGTGCCCGCCAGACTGTTCGCACCAGCATCGCTTGGTGAGGGTTCAGCCTGGGCAACCTTGTGCCCAACACTCCCTGTCAAAAATGTTCCTTCTATCTCTATCTTGTATGTGTCTCAGGGTGCCCACCTTCTTCTTTTGGTGCCTGAGCCATCCCCATAACCTCTCCTCTATTCGCTGGCATCCGTTTCCCTAACAGGCATTTATCGAGCATCTGCTGTATACACACCTGGCATTCGTTTCCCCCAGTGAACATCCGTTGAGTGCCTGTTGGTGCTCTAGGTGCTGGAGACACGGTGAATGAAACAGACTGAAGTCCCAGCCCTATGGGACAAACATTTTAACCGGGCAGACAGTAGATAAAAAATGAGTCAGTAAAGTCTAATAATAGTGTGTCAGATTGCAAGTAGTGCTAAGGAGAAAATGTGTAGGGCAAAGGGGACGGGAAGTATGGGGGTGATTTCCATTTGAAATAGGGAGGTCAGAGAAGCCTCCCTGGTGAGGTGATGTTTGAGGCCTTTAACCGAAGGAGGTGAGAGAGGGAAACGTTCCAGGCAGAGAGACACCCAGTGGAAAGGCCCTGAGGTAGGAGAGGGCCTGGAATCTTTGAGGAATAGCAAGGCAGCCAGGGTGGCTTGAGCAGAGGTAGGGTGAGGAGGGGAGATGGGTGGGAGGCATGGGCCCTCTAGATCATGGTGGGGATTTGGTTTTGTTGTGTGTTTTTCATTCTGTTTGCAATAAGAAGTACAGACAACTTCATACTTGTCTCCCACCCAACTCCCGTTCATTACTATAAAGCCCTGACTCAAAGCCCTGCCACTCTTCCTCCTCTGCCTGGAGACTCGCACCTCCCCCAACCCAGGATGCCCTCACTGTGAACAGTACCCTCATCTTGGATGCCTCTGCATAGGAGGCTCCCTGAACCATCTCTTCCCTATCTCAGGGGGTACCCTGGGCATCCTCAGTCCTGGAACCCACTGTGCCCTGTGTGTCCCCTGGGCTCCCCCGTGCAGGAGGAGGTGGGACACAGTGAGTAGGTCCAGTTGCCAAGTATATCCATCTGTCCCCCACAGGGCCTGGGGGTGCGAGCCTTAAACTTGCTCTTTGGAGCTCTGGCCATCTTCCACCTGGCCTACCTGGGCTCCCTGTTTGATGTCGATGTGGATGACACCACAGAGGAGCAGGTGAGGTGGGGCCCTGGGCTGTGTGGTTAACCAAGGGTGGCGCTATCTGGCGGGGGGAAACCATGAGGACAAAGGCTGGGAAGCTGAGGCCTGAGCTCCTCAGACTGTGCTGCTTCGCCTGGGCAGCCAGTGCTCCTCGGTCCTTTCCCATAGTCCCTCTGCTTGAGTCACACTGTTAGGTCTTTTATTTGGGTGAAGTGTGCAAAATATGTTTATTTATTTTACTTATAAAATAACTTTTAGGCTGGGCATGCTGGCTCACGCCTACAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACCTGGCGAAACCCCGTCTCTACCAAAAATATAAAAAATTAGCCAGGCGTGATAGCATGCACCTGTAATTCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTCACAGTGAGCCCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTCTCAAAAAAAAAAATCACTTTATAGAGATGGAGTGGAAAATCCAGGTTTTACTTGTGTTAATTATTTCACTTCATTATTGTTTAGGTAGAATTTGCAAGACTTCTTAATTTTTTTTTTTTTTTTGAGACAAGGTCTGTCACCCAGGCTAAAGTGCAGTGGTGTGATCACGGCCCACTGC
|
pathogenic
| 333,913 |
Variant at chromosome position 48683883, chromosome X, gene WAS (WASP actin nucleation promoting factor): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Thrombocytopenia_1', 'Wiskott-Aldrich_syndrome', 'X-linked_severe_congenital_neutropenia']
|
TTGAACCTGCACGTGTGGGAAGCCATGGAAGTTTCCAGGAAGGACTGCAGGTCCCAACTGGAGATGTGCCGTTCCTCCTTCAGGTACCTGGGAATGTCAGTCACACCCCAGACCTGCTCAGCTCCCCCAAACTGCTGTTCCTGTATCTGAGAGCTTCAAGTCTCCAAATGGCCTACCTCATACATGGGGAAACTGAGGCCTGGGGAGGCCGGGGACTGAGCTAGCATTCACTTGTGGAAATAGTCTGGCATCATCTGGAGAAGTTAGAGACATGCAAACCCTACAGCCCTCAGATTCCCGTCTGAGAGTCTGCATGCCTATGTGGACCAGGAGATGTGTGCGGGAGTGAACACTGCAGTGTTGCTCCCAACAGCAAGAACCAGAAGCAGCCCAAAGGGCTGTTACAGGAGAATATGGACACCCAGGCTGCACATGCACACCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCGAGAAATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAGTCACTTGAACCCGGGAGGCAAAGGTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAGAAAAAAAAAAGTATGACAAGCAGAAAGTAATTTGGGAGCTGCGGGGAGGCAAGGGTAAGGGATGGGGAAGTGGACCAGAGGCATATGCGTCATTGGCAGTGTCTAAGCACTCACGATAGGCGTGGATCACAGGGGCTCGCTCTGTAATTAAAAGGAAAAGGGTTTTTGTTGTGTTGTTGTTGTTGCTGTTTTTGAGACAAGGGTCTTGCTCTGTCATCATCCAGGCTGGAGTGCAGTGGTGCAGTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTAGGACTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTTAGTGGAAATGGGGTTTTGCCATGTTGCCCAGGCTCGTCTTGAACTCCTGACCTCAAGTGATCCACTCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTATTGTCCCCAGCCAAAAGGAAAAGTTTTACTGTAGTAACCCTTCCGGACTAGGGACCTCGGGCCTCAGCCTCAGGCTACCTAGGTGCTTTAGAAAGGAGGCCACCCAGGCCCATGACTACTCCTTGCCACAGGGAGCCCTGCACACAGATGTGCTAAGCTCTCGCTGCCAGCCAGAGGGAGGAGGGTCTGAGCCAGTCAGAAGGAGATGGGCCCCAGAGAGTAAGAAAGGGGGAGGAGGACCCAAGCTGATCCAAAAGGTGGGTCTAAGCAGTCAAGTGGAGGAGGGTTCCAATCTGATGGCGGAGGGCCCAAGCTCAGCCTAACGAGGAGGCCAGGCCCACCAAGGGGCCCCTGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTTTCTTCCTCTTCCTCTCCTCCTTCTCTCTCTTCCCCTCCTCCCGCTCCTCCTTTCCCTCTCCATCATCTCCTCTCCTAGAATTTCCCGTCATAATCCACCCTTCCCAGGAAGATCTCAATGTCTACTTGCCTTCCCTCTGGCTGCAGCTCTTCCTTTGGGCCCATGACTGTCATGAGGCAGGAAGGACCAGGTCTGGCTCCAAGACCTTGTGGCTACCCCTGACCAGACTCCACTGACCCCTGCTTTCCTCTCCCAGACGCTGGCCACTGCAGTTGTTCAGCTGTACCTGGCGCTGCCCCCTGGAGCTGAGCACTGGACCAAGGAGCATTGTGGGGCTGTGTGCTTCGTGAAGGATAACCCCCAGAAGTCCTACTTCATCCGCCTTTACGGCCTTCAGGTGACCCCCCCACCCCCGACTGGACTTGCAAGCCAGTTCTCAACCCGCAAACCCAGATCTGTGTCCATATGTGTCCATAGCTTCAAGACCTCAGACCTGATCAGTGAATCCCTGAGCCCCAGAACCAAAGACTCATCCAGATGGCAAACTCTGACTTGCCTTTCTAAGTCTGCAATGACTGGCCCCAGTCTCCGTATCAAGATCTCTAAAGCCCCCAGTATTAGTCTGCTGCCTAAGCCTAATCTTTTCCACAAATTCCAATAAATGAGCACTGTATTTGTACCTGAACCTCAAATCTATTCTAAACTCAACATTTTGCATCCCAGGAATCTCTCATCAAAACTCCTGAACCCCAGATGTTTGCCAAGCTCCTAAGTCATAAATCTGTTCAACAAACCCCAAAGTTGAATATTCCATTGATCCTTGAACTCCAAATCTGTCCTTCTAAATCCACAGCACAGACCCCAGAGTTCCCATATTAAAATTCCTGAACACTCAAATACCGAGGTAGTTCTTAAGCAAAAAGTCTTTTCCACAATCCCCTGACCTGAACTTTCTAGGTTTAAGCCCCAAATTCATCCTTTTAAACCCATAAAGATGGACCCAGCATAACTTCCAGATCCCAAGGCTATCAAATATCCACCAAACTCCTAAACCATAACTCTCTCCACAAACCCCAAATTGCACTTACTTTAGCTGGACTCCCCGCGAAACTCCCAAGTCTATGTGTCTGAACTTCAAATCTCAACTCCAACCCCCAAATACTAGAATCCTACCTGTCATGAATTGGGGCTGGGGTGGTGGGGGAGGGCATGGATTGAATCTGTGAATGAGCCTCAACTTCCTAAGACTAGAGTCCTAAATTATGAAATTCAAGCCCCCAAGTCCCAGATCTAGGGCCCCAAACCCCAAATCCAAACCTCTCACAAAAGTGTATGGCTCCCAGACTATACCCCACAATCCACACCCTTAGACACCAACTCTCTGGTGCTGAGCTGAAAATCTCCAAACCAGACTATGAGGCTCCCAAATCCAGACACCCTGCTCCCTGCCCAGCTAACAAAAGCCTGCCACCCCCGGCGTGCCTCAGTGCCACTGTGCCTCCCACCCTACACCTCTCCAGGCTGGTCGGCTGCTCTGGGAACAGGAGCTGTACTCACAGCTTGTCTACTCCACCCCCACCCCCTTCTTCCACACCTTCGCTGGAGATGTAAGTGATCAACCAGCCCTCGGGCCTCACTTGGGGTGTGGAGAGGAGATGGGAAAGTTGCGGGGGACCTGGGAGGCGGCTGACCCCAAGGTATGTGCAGGACTGCCAAGCGGGGCTGAACTTTGCAGACGAGGACGAGGCCCAGGCCTTCCGGGCCCTCGTGCAGGAGAAGATACAAAAAAGGAATCAGAGGCAAAGTGGAGGTGAGGAGGCCACAGGGGAGGAAAGGAAGTTGGGCAGAGGTGAGTGCAAGCCTGGGGAACTAGAAAAGTCCCCTCTCATGGTCCTGGCTCCCAA
|
TTGAACCTGCACGTGTGGGAAGCCATGGAAGTTTCCAGGAAGGACTGCAGGTCCCAACTGGAGATGTGCCGTTCCTCCTTCAGGTACCTGGGAATGTCAGTCACACCCCAGACCTGCTCAGCTCCCCCAAACTGCTGTTCCTGTATCTGAGAGCTTCAAGTCTCCAAATGGCCTACCTCATACATGGGGAAACTGAGGCCTGGGGAGGCCGGGGACTGAGCTAGCATTCACTTGTGGAAATAGTCTGGCATCATCTGGAGAAGTTAGAGACATGCAAACCCTACAGCCCTCAGATTCCCGTCTGAGAGTCTGCATGCCTATGTGGACCAGGAGATGTGTGCGGGAGTGAACACTGCAGTGTTGCTCCCAACAGCAAGAACCAGAAGCAGCCCAAAGGGCTGTTACAGGAGAATATGGACACCCAGGCTGCACATGCACACCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCGAGAAATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAGTCACTTGAACCCGGGAGGCAAAGGTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAGAAAAAAAAAAGTATGACAAGCAGAAAGTAATTTGGGAGCTGCGGGGAGGCAAGGGTAAGGGATGGGGAAGTGGACCAGAGGCATATGCGTCATTGGCAGTGTCTAAGCACTCACGATAGGCGTGGATCACAGGGGCTCGCTCTGTAATTAAAAGGAAAAGGGTTTTTGTTGTGTTGTTGTTGTTGCTGTTTTTGAGACAAGGGTCTTGCTCTGTCATCATCCAGGCTGGAGTGCAGTGGTGCAGTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTAGGACTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTTAGTGGAAATGGGGTTTTGCCATGTTGCCCAGGCTCGTCTTGAACTCCTGACCTCAAGTGATCCACTCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTATTGTCCCCAGCCAAAAGGAAAAGTTTTACTGTAGTAACCCTTCCGGACTAGGGACCTCGGGCCTCAGCCTCAGGCTACCTAGGTGCTTTAGAAAGGAGGCCACCCAGGCCCATGACTACTCCTTGCCACAGGGAGCCCTGCACACAGATGTGCTAAGCTCTCGCTGCCAGCCAGAGGGAGGAGGGTCTGAGCCAGTCAGAAGGAGATGGGCCCCAGAGAGTAAGAAAGGGGGAGGAGGACCCAAGCTGATCCAAAAGGTGGGTCTAAGCAGTCAAGTGGAGGAGGGTTCCAATCTGATGGCGGAGGGCCCAAGCTCAGCCTAACGAGGAGGCCAGGCCCACCAAGGGGCCCCTGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTTTCTTCCTCTTCCTCTCCTCCTTCTCTCTCTTCCCCTCCTCCCGCTCCTCCTTTCCCTCTCCATCATCTCCTCTCCTAGAATTTCCCGTCATAATCCACCCTTCCCAGGAAGATCTCAATGTCTACTTGCCTTCCCTCTGGCTGCAGCTCTTCCTTTGGGCCCATGACTGTCATGAGGCAGGAAGGACCAGGTCTGGCTCCAAGACCTTGTGGCTACCCCTGACCAGACTCCACTGACCCCTGCTTTCCTCTCCCAGACGCTGGCCACTGCAGTTGTTCAGCTGTACCTGGCGCTGCCCCCTGGAGCTGAGCACTGGACCAAGGAGCATTGTGGGGCTGTGTGCTTCGTGAAGGATAACCCCCAGAAGTCCTACTTCATCCGCCTTTACGGCCTTCAGGTGACCCCCCCACCCCCGACTGGACTTGCAAGCCAGTTCTCAACCCGCAAACCCAGATCTGTGTCCATATGTGTCCATAGCTTCAAGACCTCAGACCTGATCAGTGAATCCCTGAGCCCCAGAACCAAAGACTCATCCAGATGGCAAACTCTGACTTGCCTTTCTAAGTCTGCAATGACTGGCCCCAGTCTCCGTATCAAGATCTCTAAAGCCCCCAGTATTAGTCTGCTGCCTAAGCCTAATCTTTTCCACAAATTCCAATAAATGAGCACTGTATTTGTACCTGAACCTCAAATCTATTCTAAACTCAACATTTTGCATCCCAGGAATCTCTCATCAAAACTCCTGAACCCCAGATGTTTGCCAAGCTCCTAAGTCATAAATCTGTTCAACAAACCCCAAAGTTGAATATTCCATTGATCCTTGAACTCCAAATCTGTCCTTCTAAATCCACAGCACAGACCCCAGAGTTCCCATATTAAAATTCCTGAACACTCAAATACCGAGGTAGTTCTTAAGCAAAAAGTCTTTTCCACAATCCCCTGACCTGAACTTTCTAGGTTTAAGCCCCAAATTCATCCTTTTAAACCCATAAAGATGGACCCAGCATAACTTCCAGATCCCAAGGCTATCAAATATCCACCAAACTCCTAAACCATAACTCTCTCCACAAACCCCAAATTGCACTTACTTTAGCTGGACTCCCCGCGAAACTCCCAAGTCTATGTGTCTGAACTTCAAATCTCAACTCCAACCCCCAAATACTAGAATCCTACCTGTCATGAATTGGGGCTGGGGTGGTGGGGGAGGGCATGGATTGAATCTGTGAATGAGCCTCAACTTCCTAAGACTAGAGTCCTAAATTATGAAATTCAAGCCCCCAAGTCCCAGATCTAGGGCCCCAAACCCCAAATCCAAACCTCTCACAAAAGTGTATGGCTCCCAGACTATACCCCACAATCCACACCCTTAGACACCAACTCTCTGGTGCTGAGCTGAAAATCTCCAAACCAGACTATGAGGCTCCCAAATCCAGACACCCTGCTCCCTGCCCAGCTAACAAAAGCCTGCCACCCCCGGCGTGCCTCAGTGCCACTGTGCCTCCCACCCTACACCTCTCCAGGCTGGTCGGCTGCTCTGGGAACAGGAGCTGTACTCACAGCTTGTCTACTCCACCCCCACCCCCTTCTTCCACACCTTCGCTGGAGATGTAAGTGATCAACCAGCCCTCGGGCCTCACTTGGGGTGTGGAGAGGAGATGGGAAAGTTGCGGGGGACCTGGGAGGCGGCTGACCCCAAGGTATGTGCAGGACTGCCAAGCGGGGCTGAACTTTGCAGACGAGGACGAGGCCCAGGCCTTCCGGGCCCTCGTGCAGGAGAAGATACAAAAAAGGAATCAGAGGCAAAGTGGAGGTGAGGAGGCCACAGGGGAGGAAAGGAAGTTGGGCAGAGGTGAGTGCAAGCCTGGGGAACTAGAAAAGTCCCCTCTCATGGTCCTGGCTCCCA
|
pathogenic
| 333,939 |
Benign or pathogenic: chromosome X, position 48684321, gene WAS (WASP actin nucleation promoting factor) variant? Disease(s) if pathogenic?
|
pathogenic; ['Thrombocytopenia_1', 'Wiskott-Aldrich_syndrome', 'X-linked_severe_congenital_neutropenia']
|
ACCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCGAGAAATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAGTCACTTGAACCCGGGAGGCAAAGGTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAGAAAAAAAAAAGTATGACAAGCAGAAAGTAATTTGGGAGCTGCGGGGAGGCAAGGGTAAGGGATGGGGAAGTGGACCAGAGGCATATGCGTCATTGGCAGTGTCTAAGCACTCACGATAGGCGTGGATCACAGGGGCTCGCTCTGTAATTAAAAGGAAAAGGGTTTTTGTTGTGTTGTTGTTGTTGCTGTTTTTGAGACAAGGGTCTTGCTCTGTCATCATCCAGGCTGGAGTGCAGTGGTGCAGTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTAGGACTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTTAGTGGAAATGGGGTTTTGCCATGTTGCCCAGGCTCGTCTTGAACTCCTGACCTCAAGTGATCCACTCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTATTGTCCCCAGCCAAAAGGAAAAGTTTTACTGTAGTAACCCTTCCGGACTAGGGACCTCGGGCCTCAGCCTCAGGCTACCTAGGTGCTTTAGAAAGGAGGCCACCCAGGCCCATGACTACTCCTTGCCACAGGGAGCCCTGCACACAGATGTGCTAAGCTCTCGCTGCCAGCCAGAGGGAGGAGGGTCTGAGCCAGTCAGAAGGAGATGGGCCCCAGAGAGTAAGAAAGGGGGAGGAGGACCCAAGCTGATCCAAAAGGTGGGTCTAAGCAGTCAAGTGGAGGAGGGTTCCAATCTGATGGCGGAGGGCCCAAGCTCAGCCTAACGAGGAGGCCAGGCCCACCAAGGGGCCCCTGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTTTCTTCCTCTTCCTCTCCTCCTTCTCTCTCTTCCCCTCCTCCCGCTCCTCCTTTCCCTCTCCATCATCTCCTCTCCTAGAATTTCCCGTCATAATCCACCCTTCCCAGGAAGATCTCAATGTCTACTTGCCTTCCCTCTGGCTGCAGCTCTTCCTTTGGGCCCATGACTGTCATGAGGCAGGAAGGACCAGGTCTGGCTCCAAGACCTTGTGGCTACCCCTGACCAGACTCCACTGACCCCTGCTTTCCTCTCCCAGACGCTGGCCACTGCAGTTGTTCAGCTGTACCTGGCGCTGCCCCCTGGAGCTGAGCACTGGACCAAGGAGCATTGTGGGGCTGTGTGCTTCGTGAAGGATAACCCCCAGAAGTCCTACTTCATCCGCCTTTACGGCCTTCAGGTGACCCCCCCACCCCCGACTGGACTTGCAAGCCAGTTCTCAACCCGCAAACCCAGATCTGTGTCCATATGTGTCCATAGCTTCAAGACCTCAGACCTGATCAGTGAATCCCTGAGCCCCAGAACCAAAGACTCATCCAGATGGCAAACTCTGACTTGCCTTTCTAAGTCTGCAATGACTGGCCCCAGTCTCCGTATCAAGATCTCTAAAGCCCCCAGTATTAGTCTGCTGCCTAAGCCTAATCTTTTCCACAAATTCCAATAAATGAGCACTGTATTTGTACCTGAACCTCAAATCTATTCTAAACTCAACATTTTGCATCCCAGGAATCTCTCATCAAAACTCCTGAACCCCAGATGTTTGCCAAGCTCCTAAGTCATAAATCTGTTCAACAAACCCCAAAGTTGAATATTCCATTGATCCTTGAACTCCAAATCTGTCCTTCTAAATCCACAGCACAGACCCCAGAGTTCCCATATTAAAATTCCTGAACACTCAAATACCGAGGTAGTTCTTAAGCAAAAAGTCTTTTCCACAATCCCCTGACCTGAACTTTCTAGGTTTAAGCCCCAAATTCATCCTTTTAAACCCATAAAGATGGACCCAGCATAACTTCCAGATCCCAAGGCTATCAAATATCCACCAAACTCCTAAACCATAACTCTCTCCACAAACCCCAAATTGCACTTACTTTAGCTGGACTCCCCGCGAAACTCCCAAGTCTATGTGTCTGAACTTCAAATCTCAACTCCAACCCCCAAATACTAGAATCCTACCTGTCATGAATTGGGGCTGGGGTGGTGGGGGAGGGCATGGATTGAATCTGTGAATGAGCCTCAACTTCCTAAGACTAGAGTCCTAAATTATGAAATTCAAGCCCCCAAGTCCCAGATCTAGGGCCCCAAACCCCAAATCCAAACCTCTCACAAAAGTGTATGGCTCCCAGACTATACCCCACAATCCACACCCTTAGACACCAACTCTCTGGTGCTGAGCTGAAAATCTCCAAACCAGACTATGAGGCTCCCAAATCCAGACACCCTGCTCCCTGCCCAGCTAACAAAAGCCTGCCACCCCCGGCGTGCCTCAGTGCCACTGTGCCTCCCACCCTACACCTCTCCAGGCTGGTCGGCTGCTCTGGGAACAGGAGCTGTACTCACAGCTTGTCTACTCCACCCCCACCCCCTTCTTCCACACCTTCGCTGGAGATGTAAGTGATCAACCAGCCCTCGGGCCTCACTTGGGGTGTGGAGAGGAGATGGGAAAGTTGCGGGGGACCTGGGAGGCGGCTGACCCCAAGGTATGTGCAGGACTGCCAAGCGGGGCTGAACTTTGCAGACGAGGACGAGGCCCAGGCCTTCCGGGCCCTCGTGCAGGAGAAGATACAAAAAAGGAATCAGAGGCAAAGTGGAGGTGAGGAGGCCACAGGGGAGGAAAGGAAGTTGGGCAGAGGTGAGTGCAAGCCTGGGGAACTAGAAAAGTCCCCTCTCATGGTCCTGGCTCCCAATCCATCTATCCACAGACAGACGCCAGCTACCCCCACCACCAACACCAGCCAATGAAGGTGAGTCCTCTAGTGCAAGTAGGGGTAATAAGGGGCTAGCCCAGGAACCTGTGGCAGGGCTGTGATAACTCTCTACACATTCCATCTTCCCAGAGAGAAGAGGAGGGCTCCCACCCCTGCCCCTGCATCCAGGTGGAGACCAAGGAGGTGCGTGCTGATTCTTCCCTGTGTCTCTGGATGGATGGGTAAGAGTGGATGGAGGAATGAGGAGTTGGATGGGTGCGTAAGTGGGTGAATGGATAGGTAGATTGATAGGTATGTGGATGGACGAGCAGGTGCATGGATGTGTGGACTGATGGATGGGTGGATGGATTGGCGGTAGATGGCTGAGTAGAGGGATGAATTGATGGGAGGATGAAAGTCTAAGTAGATAGATGCATA
|
ACCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCGAGAAATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAGTCACTTGAACCCGGGAGGCAAAGGTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAGAAAAAAAAAAGTATGACAAGCAGAAAGTAATTTGGGAGCTGCGGGGAGGCAAGGGTAAGGGATGGGGAAGTGGACCAGAGGCATATGCGTCATTGGCAGTGTCTAAGCACTCACGATAGGCGTGGATCACAGGGGCTCGCTCTGTAATTAAAAGGAAAAGGGTTTTTGTTGTGTTGTTGTTGTTGCTGTTTTTGAGACAAGGGTCTTGCTCTGTCATCATCCAGGCTGGAGTGCAGTGGTGCAGTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTAGGACTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTTAGTGGAAATGGGGTTTTGCCATGTTGCCCAGGCTCGTCTTGAACTCCTGACCTCAAGTGATCCACTCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTATTGTCCCCAGCCAAAAGGAAAAGTTTTACTGTAGTAACCCTTCCGGACTAGGGACCTCGGGCCTCAGCCTCAGGCTACCTAGGTGCTTTAGAAAGGAGGCCACCCAGGCCCATGACTACTCCTTGCCACAGGGAGCCCTGCACACAGATGTGCTAAGCTCTCGCTGCCAGCCAGAGGGAGGAGGGTCTGAGCCAGTCAGAAGGAGATGGGCCCCAGAGAGTAAGAAAGGGGGAGGAGGACCCAAGCTGATCCAAAAGGTGGGTCTAAGCAGTCAAGTGGAGGAGGGTTCCAATCTGATGGCGGAGGGCCCAAGCTCAGCCTAACGAGGAGGCCAGGCCCACCAAGGGGCCCCTGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTTTCTTCCTCTTCCTCTCCTCCTTCTCTCTCTTCCCCTCCTCCCGCTCCTCCTTTCCCTCTCCATCATCTCCTCTCCTAGAATTTCCCGTCATAATCCACCCTTCCCAGGAAGATCTCAATGTCTACTTGCCTTCCCTCTGGCTGCAGCTCTTCCTTTGGGCCCATGACTGTCATGAGGCAGGAAGGACCAGGTCTGGCTCCAAGACCTTGTGGCTACCCCTGACCAGACTCCACTGACCCCTGCTTTCCTCTCCCAGACGCTGGCCACTGCAGTTGTTCAGCTGTACCTGGCGCTGCCCCTGGAGCTGAGCACTGGACCAAGGAGCATTGTGGGGCTGTGTGCTTCGTGAAGGATAACCCCCAGAAGTCCTACTTCATCCGCCTTTACGGCCTTCAGGTGACCCCCCCACCCCCGACTGGACTTGCAAGCCAGTTCTCAACCCGCAAACCCAGATCTGTGTCCATATGTGTCCATAGCTTCAAGACCTCAGACCTGATCAGTGAATCCCTGAGCCCCAGAACCAAAGACTCATCCAGATGGCAAACTCTGACTTGCCTTTCTAAGTCTGCAATGACTGGCCCCAGTCTCCGTATCAAGATCTCTAAAGCCCCCAGTATTAGTCTGCTGCCTAAGCCTAATCTTTTCCACAAATTCCAATAAATGAGCACTGTATTTGTACCTGAACCTCAAATCTATTCTAAACTCAACATTTTGCATCCCAGGAATCTCTCATCAAAACTCCTGAACCCCAGATGTTTGCCAAGCTCCTAAGTCATAAATCTGTTCAACAAACCCCAAAGTTGAATATTCCATTGATCCTTGAACTCCAAATCTGTCCTTCTAAATCCACAGCACAGACCCCAGAGTTCCCATATTAAAATTCCTGAACACTCAAATACCGAGGTAGTTCTTAAGCAAAAAGTCTTTTCCACAATCCCCTGACCTGAACTTTCTAGGTTTAAGCCCCAAATTCATCCTTTTAAACCCATAAAGATGGACCCAGCATAACTTCCAGATCCCAAGGCTATCAAATATCCACCAAACTCCTAAACCATAACTCTCTCCACAAACCCCAAATTGCACTTACTTTAGCTGGACTCCCCGCGAAACTCCCAAGTCTATGTGTCTGAACTTCAAATCTCAACTCCAACCCCCAAATACTAGAATCCTACCTGTCATGAATTGGGGCTGGGGTGGTGGGGGAGGGCATGGATTGAATCTGTGAATGAGCCTCAACTTCCTAAGACTAGAGTCCTAAATTATGAAATTCAAGCCCCCAAGTCCCAGATCTAGGGCCCCAAACCCCAAATCCAAACCTCTCACAAAAGTGTATGGCTCCCAGACTATACCCCACAATCCACACCCTTAGACACCAACTCTCTGGTGCTGAGCTGAAAATCTCCAAACCAGACTATGAGGCTCCCAAATCCAGACACCCTGCTCCCTGCCCAGCTAACAAAAGCCTGCCACCCCCGGCGTGCCTCAGTGCCACTGTGCCTCCCACCCTACACCTCTCCAGGCTGGTCGGCTGCTCTGGGAACAGGAGCTGTACTCACAGCTTGTCTACTCCACCCCCACCCCCTTCTTCCACACCTTCGCTGGAGATGTAAGTGATCAACCAGCCCTCGGGCCTCACTTGGGGTGTGGAGAGGAGATGGGAAAGTTGCGGGGGACCTGGGAGGCGGCTGACCCCAAGGTATGTGCAGGACTGCCAAGCGGGGCTGAACTTTGCAGACGAGGACGAGGCCCAGGCCTTCCGGGCCCTCGTGCAGGAGAAGATACAAAAAAGGAATCAGAGGCAAAGTGGAGGTGAGGAGGCCACAGGGGAGGAAAGGAAGTTGGGCAGAGGTGAGTGCAAGCCTGGGGAACTAGAAAAGTCCCCTCTCATGGTCCTGGCTCCCAATCCATCTATCCACAGACAGACGCCAGCTACCCCCACCACCAACACCAGCCAATGAAGGTGAGTCCTCTAGTGCAAGTAGGGGTAATAAGGGGCTAGCCCAGGAACCTGTGGCAGGGCTGTGATAACTCTCTACACATTCCATCTTCCCAGAGAGAAGAGGAGGGCTCCCACCCCTGCCCCTGCATCCAGGTGGAGACCAAGGAGGTGCGTGCTGATTCTTCCCTGTGTCTCTGGATGGATGGGTAAGAGTGGATGGAGGAATGAGGAGTTGGATGGGTGCGTAAGTGGGTGAATGGATAGGTAGATTGATAGGTATGTGGATGGACGAGCAGGTGCATGGATGTGTGGACTGATGGATGGGTGGATGGATTGGCGGTAGATGGCTGAGTAGAGGGATGAATTGATGGGAGGATGAAAGTCTAAGTAGATAGATGCATAN
|
pathogenic
| 333,946 |
Determine if the mutation at chromosome X, position 48684404 in gene WAS (WASP actin nucleation promoting factor) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Thrombocytopenia_1', 'Wiskott-Aldrich_syndrome', 'X-linked_severe_congenital_neutropenia']
|
AAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCGAGAAATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAGTCACTTGAACCCGGGAGGCAAAGGTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAGAAAAAAAAAAGTATGACAAGCAGAAAGTAATTTGGGAGCTGCGGGGAGGCAAGGGTAAGGGATGGGGAAGTGGACCAGAGGCATATGCGTCATTGGCAGTGTCTAAGCACTCACGATAGGCGTGGATCACAGGGGCTCGCTCTGTAATTAAAAGGAAAAGGGTTTTTGTTGTGTTGTTGTTGTTGCTGTTTTTGAGACAAGGGTCTTGCTCTGTCATCATCCAGGCTGGAGTGCAGTGGTGCAGTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTAGGACTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTTAGTGGAAATGGGGTTTTGCCATGTTGCCCAGGCTCGTCTTGAACTCCTGACCTCAAGTGATCCACTCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTATTGTCCCCAGCCAAAAGGAAAAGTTTTACTGTAGTAACCCTTCCGGACTAGGGACCTCGGGCCTCAGCCTCAGGCTACCTAGGTGCTTTAGAAAGGAGGCCACCCAGGCCCATGACTACTCCTTGCCACAGGGAGCCCTGCACACAGATGTGCTAAGCTCTCGCTGCCAGCCAGAGGGAGGAGGGTCTGAGCCAGTCAGAAGGAGATGGGCCCCAGAGAGTAAGAAAGGGGGAGGAGGACCCAAGCTGATCCAAAAGGTGGGTCTAAGCAGTCAAGTGGAGGAGGGTTCCAATCTGATGGCGGAGGGCCCAAGCTCAGCCTAACGAGGAGGCCAGGCCCACCAAGGGGCCCCTGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTTTCTTCCTCTTCCTCTCCTCCTTCTCTCTCTTCCCCTCCTCCCGCTCCTCCTTTCCCTCTCCATCATCTCCTCTCCTAGAATTTCCCGTCATAATCCACCCTTCCCAGGAAGATCTCAATGTCTACTTGCCTTCCCTCTGGCTGCAGCTCTTCCTTTGGGCCCATGACTGTCATGAGGCAGGAAGGACCAGGTCTGGCTCCAAGACCTTGTGGCTACCCCTGACCAGACTCCACTGACCCCTGCTTTCCTCTCCCAGACGCTGGCCACTGCAGTTGTTCAGCTGTACCTGGCGCTGCCCCCTGGAGCTGAGCACTGGACCAAGGAGCATTGTGGGGCTGTGTGCTTCGTGAAGGATAACCCCCAGAAGTCCTACTTCATCCGCCTTTACGGCCTTCAGGTGACCCCCCCACCCCCGACTGGACTTGCAAGCCAGTTCTCAACCCGCAAACCCAGATCTGTGTCCATATGTGTCCATAGCTTCAAGACCTCAGACCTGATCAGTGAATCCCTGAGCCCCAGAACCAAAGACTCATCCAGATGGCAAACTCTGACTTGCCTTTCTAAGTCTGCAATGACTGGCCCCAGTCTCCGTATCAAGATCTCTAAAGCCCCCAGTATTAGTCTGCTGCCTAAGCCTAATCTTTTCCACAAATTCCAATAAATGAGCACTGTATTTGTACCTGAACCTCAAATCTATTCTAAACTCAACATTTTGCATCCCAGGAATCTCTCATCAAAACTCCTGAACCCCAGATGTTTGCCAAGCTCCTAAGTCATAAATCTGTTCAACAAACCCCAAAGTTGAATATTCCATTGATCCTTGAACTCCAAATCTGTCCTTCTAAATCCACAGCACAGACCCCAGAGTTCCCATATTAAAATTCCTGAACACTCAAATACCGAGGTAGTTCTTAAGCAAAAAGTCTTTTCCACAATCCCCTGACCTGAACTTTCTAGGTTTAAGCCCCAAATTCATCCTTTTAAACCCATAAAGATGGACCCAGCATAACTTCCAGATCCCAAGGCTATCAAATATCCACCAAACTCCTAAACCATAACTCTCTCCACAAACCCCAAATTGCACTTACTTTAGCTGGACTCCCCGCGAAACTCCCAAGTCTATGTGTCTGAACTTCAAATCTCAACTCCAACCCCCAAATACTAGAATCCTACCTGTCATGAATTGGGGCTGGGGTGGTGGGGGAGGGCATGGATTGAATCTGTGAATGAGCCTCAACTTCCTAAGACTAGAGTCCTAAATTATGAAATTCAAGCCCCCAAGTCCCAGATCTAGGGCCCCAAACCCCAAATCCAAACCTCTCACAAAAGTGTATGGCTCCCAGACTATACCCCACAATCCACACCCTTAGACACCAACTCTCTGGTGCTGAGCTGAAAATCTCCAAACCAGACTATGAGGCTCCCAAATCCAGACACCCTGCTCCCTGCCCAGCTAACAAAAGCCTGCCACCCCCGGCGTGCCTCAGTGCCACTGTGCCTCCCACCCTACACCTCTCCAGGCTGGTCGGCTGCTCTGGGAACAGGAGCTGTACTCACAGCTTGTCTACTCCACCCCCACCCCCTTCTTCCACACCTTCGCTGGAGATGTAAGTGATCAACCAGCCCTCGGGCCTCACTTGGGGTGTGGAGAGGAGATGGGAAAGTTGCGGGGGACCTGGGAGGCGGCTGACCCCAAGGTATGTGCAGGACTGCCAAGCGGGGCTGAACTTTGCAGACGAGGACGAGGCCCAGGCCTTCCGGGCCCTCGTGCAGGAGAAGATACAAAAAAGGAATCAGAGGCAAAGTGGAGGTGAGGAGGCCACAGGGGAGGAAAGGAAGTTGGGCAGAGGTGAGTGCAAGCCTGGGGAACTAGAAAAGTCCCCTCTCATGGTCCTGGCTCCCAATCCATCTATCCACAGACAGACGCCAGCTACCCCCACCACCAACACCAGCCAATGAAGGTGAGTCCTCTAGTGCAAGTAGGGGTAATAAGGGGCTAGCCCAGGAACCTGTGGCAGGGCTGTGATAACTCTCTACACATTCCATCTTCCCAGAGAGAAGAGGAGGGCTCCCACCCCTGCCCCTGCATCCAGGTGGAGACCAAGGAGGTGCGTGCTGATTCTTCCCTGTGTCTCTGGATGGATGGGTAAGAGTGGATGGAGGAATGAGGAGTTGGATGGGTGCGTAAGTGGGTGAATGGATAGGTAGATTGATAGGTATGTGGATGGACGAGCAGGTGCATGGATGTGTGGACTGATGGATGGGTGGATGGATTGGCGGTAGATGGCTGAGTAGAGGGATGAATTGATGGGAGGATGAAAGTCTAAGTAGATAGATGCATAGGTGAATGGGTATGTGGATAAATGAATGAAAAGGTAGATGGATGACTGAGTAAATTAATCAATGAGTGAATGAATGAACAGTG
|
AAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCGAGAAATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAGTCACTTGAACCCGGGAGGCAAAGGTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAGAAAAAAAAAAGTATGACAAGCAGAAAGTAATTTGGGAGCTGCGGGGAGGCAAGGGTAAGGGATGGGGAAGTGGACCAGAGGCATATGCGTCATTGGCAGTGTCTAAGCACTCACGATAGGCGTGGATCACAGGGGCTCGCTCTGTAATTAAAAGGAAAAGGGTTTTTGTTGTGTTGTTGTTGTTGCTGTTTTTGAGACAAGGGTCTTGCTCTGTCATCATCCAGGCTGGAGTGCAGTGGTGCAGTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTAGGACTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTTAGTGGAAATGGGGTTTTGCCATGTTGCCCAGGCTCGTCTTGAACTCCTGACCTCAAGTGATCCACTCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTATTGTCCCCAGCCAAAAGGAAAAGTTTTACTGTAGTAACCCTTCCGGACTAGGGACCTCGGGCCTCAGCCTCAGGCTACCTAGGTGCTTTAGAAAGGAGGCCACCCAGGCCCATGACTACTCCTTGCCACAGGGAGCCCTGCACACAGATGTGCTAAGCTCTCGCTGCCAGCCAGAGGGAGGAGGGTCTGAGCCAGTCAGAAGGAGATGGGCCCCAGAGAGTAAGAAAGGGGGAGGAGGACCCAAGCTGATCCAAAAGGTGGGTCTAAGCAGTCAAGTGGAGGAGGGTTCCAATCTGATGGCGGAGGGCCCAAGCTCAGCCTAACGAGGAGGCCAGGCCCACCAAGGGGCCCCTGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTTTCTTCCTCTTCCTCTCCTCCTTCTCTCTCTTCCCCTCCTCCCGCTCCTCCTTTCCCTCTCCATCATCTCCTCTCCTAGAATTTCCCGTCATAATCCACCCTTCCCAGGAAGATCTCAATGTCTACTTGCCTTCCCTCTGGCTGCAGCTCTTCCTTTGGGCCCATGACTGTCATGAGGCAGGAAGGACCAGGTCTGGCTCCAAGACCTTGTGGCTACCCCTGACCAGACTCCACTGACCCCTGCTTTCCTCTCCCAGACGCTGGCCACTGCAGTTGTTCAGCTGTACCTGGCGCTGCCCCCTGGAGCTGAGCACTGGACCAAGGAGCATTGTGGGGCTGTGTGCTTCGTGAAGGATAACCCCCAGAAGTCCTACTTCATCGCCTTTACGGCCTTCAGGTGACCCCCCCACCCCCGACTGGACTTGCAAGCCAGTTCTCAACCCGCAAACCCAGATCTGTGTCCATATGTGTCCATAGCTTCAAGACCTCAGACCTGATCAGTGAATCCCTGAGCCCCAGAACCAAAGACTCATCCAGATGGCAAACTCTGACTTGCCTTTCTAAGTCTGCAATGACTGGCCCCAGTCTCCGTATCAAGATCTCTAAAGCCCCCAGTATTAGTCTGCTGCCTAAGCCTAATCTTTTCCACAAATTCCAATAAATGAGCACTGTATTTGTACCTGAACCTCAAATCTATTCTAAACTCAACATTTTGCATCCCAGGAATCTCTCATCAAAACTCCTGAACCCCAGATGTTTGCCAAGCTCCTAAGTCATAAATCTGTTCAACAAACCCCAAAGTTGAATATTCCATTGATCCTTGAACTCCAAATCTGTCCTTCTAAATCCACAGCACAGACCCCAGAGTTCCCATATTAAAATTCCTGAACACTCAAATACCGAGGTAGTTCTTAAGCAAAAAGTCTTTTCCACAATCCCCTGACCTGAACTTTCTAGGTTTAAGCCCCAAATTCATCCTTTTAAACCCATAAAGATGGACCCAGCATAACTTCCAGATCCCAAGGCTATCAAATATCCACCAAACTCCTAAACCATAACTCTCTCCACAAACCCCAAATTGCACTTACTTTAGCTGGACTCCCCGCGAAACTCCCAAGTCTATGTGTCTGAACTTCAAATCTCAACTCCAACCCCCAAATACTAGAATCCTACCTGTCATGAATTGGGGCTGGGGTGGTGGGGGAGGGCATGGATTGAATCTGTGAATGAGCCTCAACTTCCTAAGACTAGAGTCCTAAATTATGAAATTCAAGCCCCCAAGTCCCAGATCTAGGGCCCCAAACCCCAAATCCAAACCTCTCACAAAAGTGTATGGCTCCCAGACTATACCCCACAATCCACACCCTTAGACACCAACTCTCTGGTGCTGAGCTGAAAATCTCCAAACCAGACTATGAGGCTCCCAAATCCAGACACCCTGCTCCCTGCCCAGCTAACAAAAGCCTGCCACCCCCGGCGTGCCTCAGTGCCACTGTGCCTCCCACCCTACACCTCTCCAGGCTGGTCGGCTGCTCTGGGAACAGGAGCTGTACTCACAGCTTGTCTACTCCACCCCCACCCCCTTCTTCCACACCTTCGCTGGAGATGTAAGTGATCAACCAGCCCTCGGGCCTCACTTGGGGTGTGGAGAGGAGATGGGAAAGTTGCGGGGGACCTGGGAGGCGGCTGACCCCAAGGTATGTGCAGGACTGCCAAGCGGGGCTGAACTTTGCAGACGAGGACGAGGCCCAGGCCTTCCGGGCCCTCGTGCAGGAGAAGATACAAAAAAGGAATCAGAGGCAAAGTGGAGGTGAGGAGGCCACAGGGGAGGAAAGGAAGTTGGGCAGAGGTGAGTGCAAGCCTGGGGAACTAGAAAAGTCCCCTCTCATGGTCCTGGCTCCCAATCCATCTATCCACAGACAGACGCCAGCTACCCCCACCACCAACACCAGCCAATGAAGGTGAGTCCTCTAGTGCAAGTAGGGGTAATAAGGGGCTAGCCCAGGAACCTGTGGCAGGGCTGTGATAACTCTCTACACATTCCATCTTCCCAGAGAGAAGAGGAGGGCTCCCACCCCTGCCCCTGCATCCAGGTGGAGACCAAGGAGGTGCGTGCTGATTCTTCCCTGTGTCTCTGGATGGATGGGTAAGAGTGGATGGAGGAATGAGGAGTTGGATGGGTGCGTAAGTGGGTGAATGGATAGGTAGATTGATAGGTATGTGGATGGACGAGCAGGTGCATGGATGTGTGGACTGATGGATGGGTGGATGGATTGGCGGTAGATGGCTGAGTAGAGGGATGAATTGATGGGAGGATGAAAGTCTAAGTAGATAGATGCATAGGTGAATGGGTATGTGGATAAATGAATGAAAAGGTAGATGGATGACTGAGTAAATTAATCAATGAGTGAATGAATGAACAGTGN
|
pathogenic
| 333,952 |
Gene mutation in WAS (WASP actin nucleation promoting factor) at chromosome X, position 48684427—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
benign
|
GCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCGAGAAATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAGTCACTTGAACCCGGGAGGCAAAGGTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAGAAAAAAAAAAGTATGACAAGCAGAAAGTAATTTGGGAGCTGCGGGGAGGCAAGGGTAAGGGATGGGGAAGTGGACCAGAGGCATATGCGTCATTGGCAGTGTCTAAGCACTCACGATAGGCGTGGATCACAGGGGCTCGCTCTGTAATTAAAAGGAAAAGGGTTTTTGTTGTGTTGTTGTTGTTGCTGTTTTTGAGACAAGGGTCTTGCTCTGTCATCATCCAGGCTGGAGTGCAGTGGTGCAGTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTAGGACTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTTAGTGGAAATGGGGTTTTGCCATGTTGCCCAGGCTCGTCTTGAACTCCTGACCTCAAGTGATCCACTCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTATTGTCCCCAGCCAAAAGGAAAAGTTTTACTGTAGTAACCCTTCCGGACTAGGGACCTCGGGCCTCAGCCTCAGGCTACCTAGGTGCTTTAGAAAGGAGGCCACCCAGGCCCATGACTACTCCTTGCCACAGGGAGCCCTGCACACAGATGTGCTAAGCTCTCGCTGCCAGCCAGAGGGAGGAGGGTCTGAGCCAGTCAGAAGGAGATGGGCCCCAGAGAGTAAGAAAGGGGGAGGAGGACCCAAGCTGATCCAAAAGGTGGGTCTAAGCAGTCAAGTGGAGGAGGGTTCCAATCTGATGGCGGAGGGCCCAAGCTCAGCCTAACGAGGAGGCCAGGCCCACCAAGGGGCCCCTGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTTTCTTCCTCTTCCTCTCCTCCTTCTCTCTCTTCCCCTCCTCCCGCTCCTCCTTTCCCTCTCCATCATCTCCTCTCCTAGAATTTCCCGTCATAATCCACCCTTCCCAGGAAGATCTCAATGTCTACTTGCCTTCCCTCTGGCTGCAGCTCTTCCTTTGGGCCCATGACTGTCATGAGGCAGGAAGGACCAGGTCTGGCTCCAAGACCTTGTGGCTACCCCTGACCAGACTCCACTGACCCCTGCTTTCCTCTCCCAGACGCTGGCCACTGCAGTTGTTCAGCTGTACCTGGCGCTGCCCCCTGGAGCTGAGCACTGGACCAAGGAGCATTGTGGGGCTGTGTGCTTCGTGAAGGATAACCCCCAGAAGTCCTACTTCATCCGCCTTTACGGCCTTCAGGTGACCCCCCCACCCCCGACTGGACTTGCAAGCCAGTTCTCAACCCGCAAACCCAGATCTGTGTCCATATGTGTCCATAGCTTCAAGACCTCAGACCTGATCAGTGAATCCCTGAGCCCCAGAACCAAAGACTCATCCAGATGGCAAACTCTGACTTGCCTTTCTAAGTCTGCAATGACTGGCCCCAGTCTCCGTATCAAGATCTCTAAAGCCCCCAGTATTAGTCTGCTGCCTAAGCCTAATCTTTTCCACAAATTCCAATAAATGAGCACTGTATTTGTACCTGAACCTCAAATCTATTCTAAACTCAACATTTTGCATCCCAGGAATCTCTCATCAAAACTCCTGAACCCCAGATGTTTGCCAAGCTCCTAAGTCATAAATCTGTTCAACAAACCCCAAAGTTGAATATTCCATTGATCCTTGAACTCCAAATCTGTCCTTCTAAATCCACAGCACAGACCCCAGAGTTCCCATATTAAAATTCCTGAACACTCAAATACCGAGGTAGTTCTTAAGCAAAAAGTCTTTTCCACAATCCCCTGACCTGAACTTTCTAGGTTTAAGCCCCAAATTCATCCTTTTAAACCCATAAAGATGGACCCAGCATAACTTCCAGATCCCAAGGCTATCAAATATCCACCAAACTCCTAAACCATAACTCTCTCCACAAACCCCAAATTGCACTTACTTTAGCTGGACTCCCCGCGAAACTCCCAAGTCTATGTGTCTGAACTTCAAATCTCAACTCCAACCCCCAAATACTAGAATCCTACCTGTCATGAATTGGGGCTGGGGTGGTGGGGGAGGGCATGGATTGAATCTGTGAATGAGCCTCAACTTCCTAAGACTAGAGTCCTAAATTATGAAATTCAAGCCCCCAAGTCCCAGATCTAGGGCCCCAAACCCCAAATCCAAACCTCTCACAAAAGTGTATGGCTCCCAGACTATACCCCACAATCCACACCCTTAGACACCAACTCTCTGGTGCTGAGCTGAAAATCTCCAAACCAGACTATGAGGCTCCCAAATCCAGACACCCTGCTCCCTGCCCAGCTAACAAAAGCCTGCCACCCCCGGCGTGCCTCAGTGCCACTGTGCCTCCCACCCTACACCTCTCCAGGCTGGTCGGCTGCTCTGGGAACAGGAGCTGTACTCACAGCTTGTCTACTCCACCCCCACCCCCTTCTTCCACACCTTCGCTGGAGATGTAAGTGATCAACCAGCCCTCGGGCCTCACTTGGGGTGTGGAGAGGAGATGGGAAAGTTGCGGGGGACCTGGGAGGCGGCTGACCCCAAGGTATGTGCAGGACTGCCAAGCGGGGCTGAACTTTGCAGACGAGGACGAGGCCCAGGCCTTCCGGGCCCTCGTGCAGGAGAAGATACAAAAAAGGAATCAGAGGCAAAGTGGAGGTGAGGAGGCCACAGGGGAGGAAAGGAAGTTGGGCAGAGGTGAGTGCAAGCCTGGGGAACTAGAAAAGTCCCCTCTCATGGTCCTGGCTCCCAATCCATCTATCCACAGACAGACGCCAGCTACCCCCACCACCAACACCAGCCAATGAAGGTGAGTCCTCTAGTGCAAGTAGGGGTAATAAGGGGCTAGCCCAGGAACCTGTGGCAGGGCTGTGATAACTCTCTACACATTCCATCTTCCCAGAGAGAAGAGGAGGGCTCCCACCCCTGCCCCTGCATCCAGGTGGAGACCAAGGAGGTGCGTGCTGATTCTTCCCTGTGTCTCTGGATGGATGGGTAAGAGTGGATGGAGGAATGAGGAGTTGGATGGGTGCGTAAGTGGGTGAATGGATAGGTAGATTGATAGGTATGTGGATGGACGAGCAGGTGCATGGATGTGTGGACTGATGGATGGGTGGATGGATTGGCGGTAGATGGCTGAGTAGAGGGATGAATTGATGGGAGGATGAAAGTCTAAGTAGATAGATGCATAGGTGAATGGGTATGTGGATAAATGAATGAAAAGGTAGATGGATGACTGAGTAAATTAATCAATGAGTGAATGAATGAACAGTGAATAAATGACTAAATGACAAGTT
|
GCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCGAGAAATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAGTCACTTGAACCCGGGAGGCAAAGGTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAGAAAAAAAAAAGTATGACAAGCAGAAAGTAATTTGGGAGCTGCGGGGAGGCAAGGGTAAGGGATGGGGAAGTGGACCAGAGGCATATGCGTCATTGGCAGTGTCTAAGCACTCACGATAGGCGTGGATCACAGGGGCTCGCTCTGTAATTAAAAGGAAAAGGGTTTTTGTTGTGTTGTTGTTGTTGCTGTTTTTGAGACAAGGGTCTTGCTCTGTCATCATCCAGGCTGGAGTGCAGTGGTGCAGTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTAGGACTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTTAGTGGAAATGGGGTTTTGCCATGTTGCCCAGGCTCGTCTTGAACTCCTGACCTCAAGTGATCCACTCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTATTGTCCCCAGCCAAAAGGAAAAGTTTTACTGTAGTAACCCTTCCGGACTAGGGACCTCGGGCCTCAGCCTCAGGCTACCTAGGTGCTTTAGAAAGGAGGCCACCCAGGCCCATGACTACTCCTTGCCACAGGGAGCCCTGCACACAGATGTGCTAAGCTCTCGCTGCCAGCCAGAGGGAGGAGGGTCTGAGCCAGTCAGAAGGAGATGGGCCCCAGAGAGTAAGAAAGGGGGAGGAGGACCCAAGCTGATCCAAAAGGTGGGTCTAAGCAGTCAAGTGGAGGAGGGTTCCAATCTGATGGCGGAGGGCCCAAGCTCAGCCTAACGAGGAGGCCAGGCCCACCAAGGGGCCCCTGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTTTCTTCCTCTTCCTCTCCTCCTTCTCTCTCTTCCCCTCCTCCCGCTCCTCCTTTCCCTCTCCATCATCTCCTCTCCTAGAATTTCCCGTCATAATCCACCCTTCCCAGGAAGATCTCAATGTCTACTTGCCTTCCCTCTGGCTGCAGCTCTTCCTTTGGGCCCATGACTGTCATGAGGCAGGAAGGACCAGGTCTGGCTCCAAGACCTTGTGGCTACCCCTGACCAGACTCCACTGACCCCTGCTTTCCTCTCCCAGACGCTGGCCACTGCAGTTGTTCAGCTGTACCTGGCGCTGCCCCCTGGAGCTGAGCACTGGACCAAGGAGCATTGTGGGGCTGTGTGCTTCGTGAAGGATAACCCCCAGAAGTCCTACTTCATCCGCCTTTACGGCCTTCAGGTGACCCCCCCCACCCCCGACTGGACTTGCAAGCCAGTTCTCAACCCGCAAACCCAGATCTGTGTCCATATGTGTCCATAGCTTCAAGACCTCAGACCTGATCAGTGAATCCCTGAGCCCCAGAACCAAAGACTCATCCAGATGGCAAACTCTGACTTGCCTTTCTAAGTCTGCAATGACTGGCCCCAGTCTCCGTATCAAGATCTCTAAAGCCCCCAGTATTAGTCTGCTGCCTAAGCCTAATCTTTTCCACAAATTCCAATAAATGAGCACTGTATTTGTACCTGAACCTCAAATCTATTCTAAACTCAACATTTTGCATCCCAGGAATCTCTCATCAAAACTCCTGAACCCCAGATGTTTGCCAAGCTCCTAAGTCATAAATCTGTTCAACAAACCCCAAAGTTGAATATTCCATTGATCCTTGAACTCCAAATCTGTCCTTCTAAATCCACAGCACAGACCCCAGAGTTCCCATATTAAAATTCCTGAACACTCAAATACCGAGGTAGTTCTTAAGCAAAAAGTCTTTTCCACAATCCCCTGACCTGAACTTTCTAGGTTTAAGCCCCAAATTCATCCTTTTAAACCCATAAAGATGGACCCAGCATAACTTCCAGATCCCAAGGCTATCAAATATCCACCAAACTCCTAAACCATAACTCTCTCCACAAACCCCAAATTGCACTTACTTTAGCTGGACTCCCCGCGAAACTCCCAAGTCTATGTGTCTGAACTTCAAATCTCAACTCCAACCCCCAAATACTAGAATCCTACCTGTCATGAATTGGGGCTGGGGTGGTGGGGGAGGGCATGGATTGAATCTGTGAATGAGCCTCAACTTCCTAAGACTAGAGTCCTAAATTATGAAATTCAAGCCCCCAAGTCCCAGATCTAGGGCCCCAAACCCCAAATCCAAACCTCTCACAAAAGTGTATGGCTCCCAGACTATACCCCACAATCCACACCCTTAGACACCAACTCTCTGGTGCTGAGCTGAAAATCTCCAAACCAGACTATGAGGCTCCCAAATCCAGACACCCTGCTCCCTGCCCAGCTAACAAAAGCCTGCCACCCCCGGCGTGCCTCAGTGCCACTGTGCCTCCCACCCTACACCTCTCCAGGCTGGTCGGCTGCTCTGGGAACAGGAGCTGTACTCACAGCTTGTCTACTCCACCCCCACCCCCTTCTTCCACACCTTCGCTGGAGATGTAAGTGATCAACCAGCCCTCGGGCCTCACTTGGGGTGTGGAGAGGAGATGGGAAAGTTGCGGGGGACCTGGGAGGCGGCTGACCCCAAGGTATGTGCAGGACTGCCAAGCGGGGCTGAACTTTGCAGACGAGGACGAGGCCCAGGCCTTCCGGGCCCTCGTGCAGGAGAAGATACAAAAAAGGAATCAGAGGCAAAGTGGAGGTGAGGAGGCCACAGGGGAGGAAAGGAAGTTGGGCAGAGGTGAGTGCAAGCCTGGGGAACTAGAAAAGTCCCCTCTCATGGTCCTGGCTCCCAATCCATCTATCCACAGACAGACGCCAGCTACCCCCACCACCAACACCAGCCAATGAAGGTGAGTCCTCTAGTGCAAGTAGGGGTAATAAGGGGCTAGCCCAGGAACCTGTGGCAGGGCTGTGATAACTCTCTACACATTCCATCTTCCCAGAGAGAAGAGGAGGGCTCCCACCCCTGCCCCTGCATCCAGGTGGAGACCAAGGAGGTGCGTGCTGATTCTTCCCTGTGTCTCTGGATGGATGGGTAAGAGTGGATGGAGGAATGAGGAGTTGGATGGGTGCGTAAGTGGGTGAATGGATAGGTAGATTGATAGGTATGTGGATGGACGAGCAGGTGCATGGATGTGTGGACTGATGGATGGGTGGATGGATTGGCGGTAGATGGCTGAGTAGAGGGATGAATTGATGGGAGGATGAAAGTCTAAGTAGATAGATGCATAGGTGAATGGGTATGTGGATAAATGAATGAAAAGGTAGATGGATGACTGAGTAAATTAATCAATGAGTGAATGAATGAACAGTGAATAAATGACTAAATGACAAGT
|
benign
| 333,956 |
Determine whether the variant at chromosome X, position 48684427, in gene WAS (WASP actin nucleation promoting factor) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
benign
|
GCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCGAGAAATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAGTCACTTGAACCCGGGAGGCAAAGGTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAGAAAAAAAAAAGTATGACAAGCAGAAAGTAATTTGGGAGCTGCGGGGAGGCAAGGGTAAGGGATGGGGAAGTGGACCAGAGGCATATGCGTCATTGGCAGTGTCTAAGCACTCACGATAGGCGTGGATCACAGGGGCTCGCTCTGTAATTAAAAGGAAAAGGGTTTTTGTTGTGTTGTTGTTGTTGCTGTTTTTGAGACAAGGGTCTTGCTCTGTCATCATCCAGGCTGGAGTGCAGTGGTGCAGTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTAGGACTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTTAGTGGAAATGGGGTTTTGCCATGTTGCCCAGGCTCGTCTTGAACTCCTGACCTCAAGTGATCCACTCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTATTGTCCCCAGCCAAAAGGAAAAGTTTTACTGTAGTAACCCTTCCGGACTAGGGACCTCGGGCCTCAGCCTCAGGCTACCTAGGTGCTTTAGAAAGGAGGCCACCCAGGCCCATGACTACTCCTTGCCACAGGGAGCCCTGCACACAGATGTGCTAAGCTCTCGCTGCCAGCCAGAGGGAGGAGGGTCTGAGCCAGTCAGAAGGAGATGGGCCCCAGAGAGTAAGAAAGGGGGAGGAGGACCCAAGCTGATCCAAAAGGTGGGTCTAAGCAGTCAAGTGGAGGAGGGTTCCAATCTGATGGCGGAGGGCCCAAGCTCAGCCTAACGAGGAGGCCAGGCCCACCAAGGGGCCCCTGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTTTCTTCCTCTTCCTCTCCTCCTTCTCTCTCTTCCCCTCCTCCCGCTCCTCCTTTCCCTCTCCATCATCTCCTCTCCTAGAATTTCCCGTCATAATCCACCCTTCCCAGGAAGATCTCAATGTCTACTTGCCTTCCCTCTGGCTGCAGCTCTTCCTTTGGGCCCATGACTGTCATGAGGCAGGAAGGACCAGGTCTGGCTCCAAGACCTTGTGGCTACCCCTGACCAGACTCCACTGACCCCTGCTTTCCTCTCCCAGACGCTGGCCACTGCAGTTGTTCAGCTGTACCTGGCGCTGCCCCCTGGAGCTGAGCACTGGACCAAGGAGCATTGTGGGGCTGTGTGCTTCGTGAAGGATAACCCCCAGAAGTCCTACTTCATCCGCCTTTACGGCCTTCAGGTGACCCCCCCACCCCCGACTGGACTTGCAAGCCAGTTCTCAACCCGCAAACCCAGATCTGTGTCCATATGTGTCCATAGCTTCAAGACCTCAGACCTGATCAGTGAATCCCTGAGCCCCAGAACCAAAGACTCATCCAGATGGCAAACTCTGACTTGCCTTTCTAAGTCTGCAATGACTGGCCCCAGTCTCCGTATCAAGATCTCTAAAGCCCCCAGTATTAGTCTGCTGCCTAAGCCTAATCTTTTCCACAAATTCCAATAAATGAGCACTGTATTTGTACCTGAACCTCAAATCTATTCTAAACTCAACATTTTGCATCCCAGGAATCTCTCATCAAAACTCCTGAACCCCAGATGTTTGCCAAGCTCCTAAGTCATAAATCTGTTCAACAAACCCCAAAGTTGAATATTCCATTGATCCTTGAACTCCAAATCTGTCCTTCTAAATCCACAGCACAGACCCCAGAGTTCCCATATTAAAATTCCTGAACACTCAAATACCGAGGTAGTTCTTAAGCAAAAAGTCTTTTCCACAATCCCCTGACCTGAACTTTCTAGGTTTAAGCCCCAAATTCATCCTTTTAAACCCATAAAGATGGACCCAGCATAACTTCCAGATCCCAAGGCTATCAAATATCCACCAAACTCCTAAACCATAACTCTCTCCACAAACCCCAAATTGCACTTACTTTAGCTGGACTCCCCGCGAAACTCCCAAGTCTATGTGTCTGAACTTCAAATCTCAACTCCAACCCCCAAATACTAGAATCCTACCTGTCATGAATTGGGGCTGGGGTGGTGGGGGAGGGCATGGATTGAATCTGTGAATGAGCCTCAACTTCCTAAGACTAGAGTCCTAAATTATGAAATTCAAGCCCCCAAGTCCCAGATCTAGGGCCCCAAACCCCAAATCCAAACCTCTCACAAAAGTGTATGGCTCCCAGACTATACCCCACAATCCACACCCTTAGACACCAACTCTCTGGTGCTGAGCTGAAAATCTCCAAACCAGACTATGAGGCTCCCAAATCCAGACACCCTGCTCCCTGCCCAGCTAACAAAAGCCTGCCACCCCCGGCGTGCCTCAGTGCCACTGTGCCTCCCACCCTACACCTCTCCAGGCTGGTCGGCTGCTCTGGGAACAGGAGCTGTACTCACAGCTTGTCTACTCCACCCCCACCCCCTTCTTCCACACCTTCGCTGGAGATGTAAGTGATCAACCAGCCCTCGGGCCTCACTTGGGGTGTGGAGAGGAGATGGGAAAGTTGCGGGGGACCTGGGAGGCGGCTGACCCCAAGGTATGTGCAGGACTGCCAAGCGGGGCTGAACTTTGCAGACGAGGACGAGGCCCAGGCCTTCCGGGCCCTCGTGCAGGAGAAGATACAAAAAAGGAATCAGAGGCAAAGTGGAGGTGAGGAGGCCACAGGGGAGGAAAGGAAGTTGGGCAGAGGTGAGTGCAAGCCTGGGGAACTAGAAAAGTCCCCTCTCATGGTCCTGGCTCCCAATCCATCTATCCACAGACAGACGCCAGCTACCCCCACCACCAACACCAGCCAATGAAGGTGAGTCCTCTAGTGCAAGTAGGGGTAATAAGGGGCTAGCCCAGGAACCTGTGGCAGGGCTGTGATAACTCTCTACACATTCCATCTTCCCAGAGAGAAGAGGAGGGCTCCCACCCCTGCCCCTGCATCCAGGTGGAGACCAAGGAGGTGCGTGCTGATTCTTCCCTGTGTCTCTGGATGGATGGGTAAGAGTGGATGGAGGAATGAGGAGTTGGATGGGTGCGTAAGTGGGTGAATGGATAGGTAGATTGATAGGTATGTGGATGGACGAGCAGGTGCATGGATGTGTGGACTGATGGATGGGTGGATGGATTGGCGGTAGATGGCTGAGTAGAGGGATGAATTGATGGGAGGATGAAAGTCTAAGTAGATAGATGCATAGGTGAATGGGTATGTGGATAAATGAATGAAAAGGTAGATGGATGACTGAGTAAATTAATCAATGAGTGAATGAATGAACAGTGAATAAATGACTAAATGACAAGTT
|
GCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCGAGAAATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAGTCACTTGAACCCGGGAGGCAAAGGTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAGAAAAAAAAAAGTATGACAAGCAGAAAGTAATTTGGGAGCTGCGGGGAGGCAAGGGTAAGGGATGGGGAAGTGGACCAGAGGCATATGCGTCATTGGCAGTGTCTAAGCACTCACGATAGGCGTGGATCACAGGGGCTCGCTCTGTAATTAAAAGGAAAAGGGTTTTTGTTGTGTTGTTGTTGTTGCTGTTTTTGAGACAAGGGTCTTGCTCTGTCATCATCCAGGCTGGAGTGCAGTGGTGCAGTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTAGGACTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTTAGTGGAAATGGGGTTTTGCCATGTTGCCCAGGCTCGTCTTGAACTCCTGACCTCAAGTGATCCACTCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTATTGTCCCCAGCCAAAAGGAAAAGTTTTACTGTAGTAACCCTTCCGGACTAGGGACCTCGGGCCTCAGCCTCAGGCTACCTAGGTGCTTTAGAAAGGAGGCCACCCAGGCCCATGACTACTCCTTGCCACAGGGAGCCCTGCACACAGATGTGCTAAGCTCTCGCTGCCAGCCAGAGGGAGGAGGGTCTGAGCCAGTCAGAAGGAGATGGGCCCCAGAGAGTAAGAAAGGGGGAGGAGGACCCAAGCTGATCCAAAAGGTGGGTCTAAGCAGTCAAGTGGAGGAGGGTTCCAATCTGATGGCGGAGGGCCCAAGCTCAGCCTAACGAGGAGGCCAGGCCCACCAAGGGGCCCCTGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTTTCTTCCTCTTCCTCTCCTCCTTCTCTCTCTTCCCCTCCTCCCGCTCCTCCTTTCCCTCTCCATCATCTCCTCTCCTAGAATTTCCCGTCATAATCCACCCTTCCCAGGAAGATCTCAATGTCTACTTGCCTTCCCTCTGGCTGCAGCTCTTCCTTTGGGCCCATGACTGTCATGAGGCAGGAAGGACCAGGTCTGGCTCCAAGACCTTGTGGCTACCCCTGACCAGACTCCACTGACCCCTGCTTTCCTCTCCCAGACGCTGGCCACTGCAGTTGTTCAGCTGTACCTGGCGCTGCCCCCTGGAGCTGAGCACTGGACCAAGGAGCATTGTGGGGCTGTGTGCTTCGTGAAGGATAACCCCCAGAAGTCCTACTTCATCCGCCTTTACGGCCTTCAGGTGACCCCCCCCCACCCCCGACTGGACTTGCAAGCCAGTTCTCAACCCGCAAACCCAGATCTGTGTCCATATGTGTCCATAGCTTCAAGACCTCAGACCTGATCAGTGAATCCCTGAGCCCCAGAACCAAAGACTCATCCAGATGGCAAACTCTGACTTGCCTTTCTAAGTCTGCAATGACTGGCCCCAGTCTCCGTATCAAGATCTCTAAAGCCCCCAGTATTAGTCTGCTGCCTAAGCCTAATCTTTTCCACAAATTCCAATAAATGAGCACTGTATTTGTACCTGAACCTCAAATCTATTCTAAACTCAACATTTTGCATCCCAGGAATCTCTCATCAAAACTCCTGAACCCCAGATGTTTGCCAAGCTCCTAAGTCATAAATCTGTTCAACAAACCCCAAAGTTGAATATTCCATTGATCCTTGAACTCCAAATCTGTCCTTCTAAATCCACAGCACAGACCCCAGAGTTCCCATATTAAAATTCCTGAACACTCAAATACCGAGGTAGTTCTTAAGCAAAAAGTCTTTTCCACAATCCCCTGACCTGAACTTTCTAGGTTTAAGCCCCAAATTCATCCTTTTAAACCCATAAAGATGGACCCAGCATAACTTCCAGATCCCAAGGCTATCAAATATCCACCAAACTCCTAAACCATAACTCTCTCCACAAACCCCAAATTGCACTTACTTTAGCTGGACTCCCCGCGAAACTCCCAAGTCTATGTGTCTGAACTTCAAATCTCAACTCCAACCCCCAAATACTAGAATCCTACCTGTCATGAATTGGGGCTGGGGTGGTGGGGGAGGGCATGGATTGAATCTGTGAATGAGCCTCAACTTCCTAAGACTAGAGTCCTAAATTATGAAATTCAAGCCCCCAAGTCCCAGATCTAGGGCCCCAAACCCCAAATCCAAACCTCTCACAAAAGTGTATGGCTCCCAGACTATACCCCACAATCCACACCCTTAGACACCAACTCTCTGGTGCTGAGCTGAAAATCTCCAAACCAGACTATGAGGCTCCCAAATCCAGACACCCTGCTCCCTGCCCAGCTAACAAAAGCCTGCCACCCCCGGCGTGCCTCAGTGCCACTGTGCCTCCCACCCTACACCTCTCCAGGCTGGTCGGCTGCTCTGGGAACAGGAGCTGTACTCACAGCTTGTCTACTCCACCCCCACCCCCTTCTTCCACACCTTCGCTGGAGATGTAAGTGATCAACCAGCCCTCGGGCCTCACTTGGGGTGTGGAGAGGAGATGGGAAAGTTGCGGGGGACCTGGGAGGCGGCTGACCCCAAGGTATGTGCAGGACTGCCAAGCGGGGCTGAACTTTGCAGACGAGGACGAGGCCCAGGCCTTCCGGGCCCTCGTGCAGGAGAAGATACAAAAAAGGAATCAGAGGCAAAGTGGAGGTGAGGAGGCCACAGGGGAGGAAAGGAAGTTGGGCAGAGGTGAGTGCAAGCCTGGGGAACTAGAAAAGTCCCCTCTCATGGTCCTGGCTCCCAATCCATCTATCCACAGACAGACGCCAGCTACCCCCACCACCAACACCAGCCAATGAAGGTGAGTCCTCTAGTGCAAGTAGGGGTAATAAGGGGCTAGCCCAGGAACCTGTGGCAGGGCTGTGATAACTCTCTACACATTCCATCTTCCCAGAGAGAAGAGGAGGGCTCCCACCCCTGCCCCTGCATCCAGGTGGAGACCAAGGAGGTGCGTGCTGATTCTTCCCTGTGTCTCTGGATGGATGGGTAAGAGTGGATGGAGGAATGAGGAGTTGGATGGGTGCGTAAGTGGGTGAATGGATAGGTAGATTGATAGGTATGTGGATGGACGAGCAGGTGCATGGATGTGTGGACTGATGGATGGGTGGATGGATTGGCGGTAGATGGCTGAGTAGAGGGATGAATTGATGGGAGGATGAAAGTCTAAGTAGATAGATGCATAGGTGAATGGGTATGTGGATAAATGAATGAAAAGGTAGATGGATGACTGAGTAAATTAATCAATGAGTGAATGAATGAACAGTGAATAAATGACTAAATGACAAG
|
benign
| 333,957 |
Does the variant on chromosome X at location 48685941 affecting gene WAS (WASP actin nucleation promoting factor) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Thrombocytopenia_1']
|
GGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTTTCTTCCTCTTCCTCTCCTCCTTCTCTCTCTTCCCCTCCTCCCGCTCCTCCTTTCCCTCTCCATCATCTCCTCTCCTAGAATTTCCCGTCATAATCCACCCTTCCCAGGAAGATCTCAATGTCTACTTGCCTTCCCTCTGGCTGCAGCTCTTCCTTTGGGCCCATGACTGTCATGAGGCAGGAAGGACCAGGTCTGGCTCCAAGACCTTGTGGCTACCCCTGACCAGACTCCACTGACCCCTGCTTTCCTCTCCCAGACGCTGGCCACTGCAGTTGTTCAGCTGTACCTGGCGCTGCCCCCTGGAGCTGAGCACTGGACCAAGGAGCATTGTGGGGCTGTGTGCTTCGTGAAGGATAACCCCCAGAAGTCCTACTTCATCCGCCTTTACGGCCTTCAGGTGACCCCCCCACCCCCGACTGGACTTGCAAGCCAGTTCTCAACCCGCAAACCCAGATCTGTGTCCATATGTGTCCATAGCTTCAAGACCTCAGACCTGATCAGTGAATCCCTGAGCCCCAGAACCAAAGACTCATCCAGATGGCAAACTCTGACTTGCCTTTCTAAGTCTGCAATGACTGGCCCCAGTCTCCGTATCAAGATCTCTAAAGCCCCCAGTATTAGTCTGCTGCCTAAGCCTAATCTTTTCCACAAATTCCAATAAATGAGCACTGTATTTGTACCTGAACCTCAAATCTATTCTAAACTCAACATTTTGCATCCCAGGAATCTCTCATCAAAACTCCTGAACCCCAGATGTTTGCCAAGCTCCTAAGTCATAAATCTGTTCAACAAACCCCAAAGTTGAATATTCCATTGATCCTTGAACTCCAAATCTGTCCTTCTAAATCCACAGCACAGACCCCAGAGTTCCCATATTAAAATTCCTGAACACTCAAATACCGAGGTAGTTCTTAAGCAAAAAGTCTTTTCCACAATCCCCTGACCTGAACTTTCTAGGTTTAAGCCCCAAATTCATCCTTTTAAACCCATAAAGATGGACCCAGCATAACTTCCAGATCCCAAGGCTATCAAATATCCACCAAACTCCTAAACCATAACTCTCTCCACAAACCCCAAATTGCACTTACTTTAGCTGGACTCCCCGCGAAACTCCCAAGTCTATGTGTCTGAACTTCAAATCTCAACTCCAACCCCCAAATACTAGAATCCTACCTGTCATGAATTGGGGCTGGGGTGGTGGGGGAGGGCATGGATTGAATCTGTGAATGAGCCTCAACTTCCTAAGACTAGAGTCCTAAATTATGAAATTCAAGCCCCCAAGTCCCAGATCTAGGGCCCCAAACCCCAAATCCAAACCTCTCACAAAAGTGTATGGCTCCCAGACTATACCCCACAATCCACACCCTTAGACACCAACTCTCTGGTGCTGAGCTGAAAATCTCCAAACCAGACTATGAGGCTCCCAAATCCAGACACCCTGCTCCCTGCCCAGCTAACAAAAGCCTGCCACCCCCGGCGTGCCTCAGTGCCACTGTGCCTCCCACCCTACACCTCTCCAGGCTGGTCGGCTGCTCTGGGAACAGGAGCTGTACTCACAGCTTGTCTACTCCACCCCCACCCCCTTCTTCCACACCTTCGCTGGAGATGTAAGTGATCAACCAGCCCTCGGGCCTCACTTGGGGTGTGGAGAGGAGATGGGAAAGTTGCGGGGGACCTGGGAGGCGGCTGACCCCAAGGTATGTGCAGGACTGCCAAGCGGGGCTGAACTTTGCAGACGAGGACGAGGCCCAGGCCTTCCGGGCCCTCGTGCAGGAGAAGATACAAAAAAGGAATCAGAGGCAAAGTGGAGGTGAGGAGGCCACAGGGGAGGAAAGGAAGTTGGGCAGAGGTGAGTGCAAGCCTGGGGAACTAGAAAAGTCCCCTCTCATGGTCCTGGCTCCCAATCCATCTATCCACAGACAGACGCCAGCTACCCCCACCACCAACACCAGCCAATGAAGGTGAGTCCTCTAGTGCAAGTAGGGGTAATAAGGGGCTAGCCCAGGAACCTGTGGCAGGGCTGTGATAACTCTCTACACATTCCATCTTCCCAGAGAGAAGAGGAGGGCTCCCACCCCTGCCCCTGCATCCAGGTGGAGACCAAGGAGGTGCGTGCTGATTCTTCCCTGTGTCTCTGGATGGATGGGTAAGAGTGGATGGAGGAATGAGGAGTTGGATGGGTGCGTAAGTGGGTGAATGGATAGGTAGATTGATAGGTATGTGGATGGACGAGCAGGTGCATGGATGTGTGGACTGATGGATGGGTGGATGGATTGGCGGTAGATGGCTGAGTAGAGGGATGAATTGATGGGAGGATGAAAGTCTAAGTAGATAGATGCATAGGTGAATGGGTATGTGGATAAATGAATGAAAAGGTAGATGGATGACTGAGTAAATTAATCAATGAGTGAATGAATGAACAGTGAATAAATGACTAAATGACAAGTTTCAGTCAGTGAAGAAAGCATGATTGAATGAATAAATGAGTAAATGAATATTTTAACAAATTCATTAGTCAATGAGCCAGTGAATGATAAAGCATGAGGGAATGAAAACATGAATGAATCAGTGAATGTATGAATGGTTTGTGGGATCCACCCACTTCTCCATAGACCCTACTTGAACCCTTCACCCACTACCTCCATGACCATCCAACACACACACAGATTTCCCTCAAGGCTTCCGTTTCTTGCCCCTGTGCTTTGGTTGGTTGGTAAGTGGGTCAATGAGCCAACCACCCTATTTTCCCCACAGGCCCTCCAGTGGGTCCGCTCTCCCTGGGGCTGGCGACAGTGGACATCCAGAACCCTGACATCACGAGTTCACGATACCGTGGGCTCCCAGCACCTGGACCTAGCCCAGCTGATAAGAAACGCTCAGGGAAGAAGAAGATCAGCAAAGCTGATATTGGTGCACCCAGTGGATTCAAGTGAGAGCCACTCCCCAGTGGACCCACAGATTCCTGGGGGCAGAGGGGCACATGAACAAGTGGACAGCTGAGTGAATGGAAGGATGGGCAGATGGGCAGATGGCTGGGTGGCTGAGTGGGTAAATGGGTGGTTGGATAGGTAGGTGCAGGGCTGGGTCTAGGGAGAGGTAAATAAGGCACCAAGGGTACAAAATTTAAGGAGGCACTCACTCTCAGAGGCATGCAACTGTAATTCCTGACTCTCAGAGTGAGTGACTCACTTAAATTTTGCACCCTAGGCACCTTACTTGCCTCACCCTGGGCCCACTCTGGGTGGGCTGTTAGGAGAGCAGGTGGGTGGGCAGGTGAACAAATGGATAGATAGATGAGGTAGATGATGGATGAGAAGGGCTGGTGGGTAGGTGGGTGAGTGGATGGGTGGATGGATGGATAAATGAATGGATGAATGAATGGGTTGAAGAATGAATGGATAAGTGGTTGGATGGACAAGTTTATGGGTGGATGGGTTGATGGGAGGTGCGTGGATAGATAGATGGGTGAGTGGATAGGTGTGTGGACAGATTGATATGCAGGCTGATTGGCTCACAGACAAGGTGGATGGGGATGGACAGGTGGACAGATACGTGGATGAATGGACAGTTCAATGGATAAGTGAACAGAAGTGTGTGGTTGCATGGGTAGAAAAATGAGTGGATGGATAGATGGAAAGGTGGGCACATGGGTAGGTGGATGGGTGGATGGACAAGTGTGTGTGAGGACAGACTGGTGGACAAATGGGTGAACAGACATATGTGGGCAGATAGTTGCAGAGACAGATGTATGGACAGATCAGTAGTCCAACAGATGAATGTGAATGAATAGGTGGACAAATGCATGGGATAGATGGGGAAAGAGGGATGGGTGGATGGATCAGCACCACAAACTATGGAGCCCTTCTAATTCCATAACTCCTGCCTATACTCATTCACTCATTCAGTCTCATTCATTAATTCTGGCCCCTCAGAGTCTCTTTGGGCAGGAGAGGGCAAGAGGG
|
GGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTTTCTTCCTCTTCCTCTCCTCCTTCTCTCTCTTCCCCTCCTCCCGCTCCTCCTTTCCCTCTCCATCATCTCCTCTCCTAGAATTTCCCGTCATAATCCACCCTTCCCAGGAAGATCTCAATGTCTACTTGCCTTCCCTCTGGCTGCAGCTCTTCCTTTGGGCCCATGACTGTCATGAGGCAGGAAGGACCAGGTCTGGCTCCAAGACCTTGTGGCTACCCCTGACCAGACTCCACTGACCCCTGCTTTCCTCTCCCAGACGCTGGCCACTGCAGTTGTTCAGCTGTACCTGGCGCTGCCCCCTGGAGCTGAGCACTGGACCAAGGAGCATTGTGGGGCTGTGTGCTTCGTGAAGGATAACCCCCAGAAGTCCTACTTCATCCGCCTTTACGGCCTTCAGGTGACCCCCCCACCCCCGACTGGACTTGCAAGCCAGTTCTCAACCCGCAAACCCAGATCTGTGTCCATATGTGTCCATAGCTTCAAGACCTCAGACCTGATCAGTGAATCCCTGAGCCCCAGAACCAAAGACTCATCCAGATGGCAAACTCTGACTTGCCTTTCTAAGTCTGCAATGACTGGCCCCAGTCTCCGTATCAAGATCTCTAAAGCCCCCAGTATTAGTCTGCTGCCTAAGCCTAATCTTTTCCACAAATTCCAATAAATGAGCACTGTATTTGTACCTGAACCTCAAATCTATTCTAAACTCAACATTTTGCATCCCAGGAATCTCTCATCAAAACTCCTGAACCCCAGATGTTTGCCAAGCTCCTAAGTCATAAATCTGTTCAACAAACCCCAAAGTTGAATATTCCATTGATCCTTGAACTCCAAATCTGTCCTTCTAAATCCACAGCACAGACCCCAGAGTTCCCATATTAAAATTCCTGAACACTCAAATACCGAGGTAGTTCTTAAGCAAAAAGTCTTTTCCACAATCCCCTGACCTGAACTTTCTAGGTTTAAGCCCCAAATTCATCCTTTTAAACCCATAAAGATGGACCCAGCATAACTTCCAGATCCCAAGGCTATCAAATATCCACCAAACTCCTAAACCATAACTCTCTCCACAAACCCCAAATTGCACTTACTTTAGCTGGACTCCCCGCGAAACTCCCAAGTCTATGTGTCTGAACTTCAAATCTCAACTCCAACCCCCAAATACTAGAATCCTACCTGTCATGAATTGGGGCTGGGGTGGTGGGGGAGGGCATGGATTGAATCTGTGAATGAGCCTCAACTTCCTAAGACTAGAGTCCTAAATTATGAAATTCAAGCCCCCAAGTCCCAGATCTAGGGCCCCAAACCCCAAATCCAAACCTCTCACAAAAGTGTATGGCTCCCAGACTATACCCCACAATCCACACCCTTAGACACCAACTCTCTGGTGCTGAGCTGAAAATCTCCAAACCAGACTATGAGGCTCCCAAATCCAGACACCCTGCTCCCTGCCCAGCTAACAAAAGCCTGCCACCCCCGGCGTGCCTCAGTGCCACTGTGCCTCCCACCCTACACCTCTCCAGGCTGGTCGGCTGCTCTGGGAACAGGAGCTGTACTCACAGCTTGTCTACTCCACCCCCACCCCCTTCTTCCACACCTTCGCTGGAGATGTAAGTGATCAACCAGCCCTCGGGCCTCACTTGGGGTGTGGAGAGGAGATGGGAAAGTTGCGGGGGACCTGGGAGGCGGCTGACCCCAAGGTATGTGCAGGACTGCCAAGCGGGGCTGAACTTTGCAGACGAGGACGAGGCCCAGGCCTTCCGGGCCCTCGTGCAGGAGAAGATACAAAAAAGGAATCAGAGGCAAAGTGGAGGTGAGGAGGCCACAGGGGAGGAAAGGAAGTTGGGCAGAGGTGAGTGCAAGCCTGGGGAACTAGAAAAGTCCCCTCTCATGGTCCTGGCTCCCAATCCATCTATCCACAGACGCCAGCTACCCCCACCACCAACACCAGCCAATGAAGGTGAGTCCTCTAGTGCAAGTAGGGGTAATAAGGGGCTAGCCCAGGAACCTGTGGCAGGGCTGTGATAACTCTCTACACATTCCATCTTCCCAGAGAGAAGAGGAGGGCTCCCACCCCTGCCCCTGCATCCAGGTGGAGACCAAGGAGGTGCGTGCTGATTCTTCCCTGTGTCTCTGGATGGATGGGTAAGAGTGGATGGAGGAATGAGGAGTTGGATGGGTGCGTAAGTGGGTGAATGGATAGGTAGATTGATAGGTATGTGGATGGACGAGCAGGTGCATGGATGTGTGGACTGATGGATGGGTGGATGGATTGGCGGTAGATGGCTGAGTAGAGGGATGAATTGATGGGAGGATGAAAGTCTAAGTAGATAGATGCATAGGTGAATGGGTATGTGGATAAATGAATGAAAAGGTAGATGGATGACTGAGTAAATTAATCAATGAGTGAATGAATGAACAGTGAATAAATGACTAAATGACAAGTTTCAGTCAGTGAAGAAAGCATGATTGAATGAATAAATGAGTAAATGAATATTTTAACAAATTCATTAGTCAATGAGCCAGTGAATGATAAAGCATGAGGGAATGAAAACATGAATGAATCAGTGAATGTATGAATGGTTTGTGGGATCCACCCACTTCTCCATAGACCCTACTTGAACCCTTCACCCACTACCTCCATGACCATCCAACACACACACAGATTTCCCTCAAGGCTTCCGTTTCTTGCCCCTGTGCTTTGGTTGGTTGGTAAGTGGGTCAATGAGCCAACCACCCTATTTTCCCCACAGGCCCTCCAGTGGGTCCGCTCTCCCTGGGGCTGGCGACAGTGGACATCCAGAACCCTGACATCACGAGTTCACGATACCGTGGGCTCCCAGCACCTGGACCTAGCCCAGCTGATAAGAAACGCTCAGGGAAGAAGAAGATCAGCAAAGCTGATATTGGTGCACCCAGTGGATTCAAGTGAGAGCCACTCCCCAGTGGACCCACAGATTCCTGGGGGCAGAGGGGCACATGAACAAGTGGACAGCTGAGTGAATGGAAGGATGGGCAGATGGGCAGATGGCTGGGTGGCTGAGTGGGTAAATGGGTGGTTGGATAGGTAGGTGCAGGGCTGGGTCTAGGGAGAGGTAAATAAGGCACCAAGGGTACAAAATTTAAGGAGGCACTCACTCTCAGAGGCATGCAACTGTAATTCCTGACTCTCAGAGTGAGTGACTCACTTAAATTTTGCACCCTAGGCACCTTACTTGCCTCACCCTGGGCCCACTCTGGGTGGGCTGTTAGGAGAGCAGGTGGGTGGGCAGGTGAACAAATGGATAGATAGATGAGGTAGATGATGGATGAGAAGGGCTGGTGGGTAGGTGGGTGAGTGGATGGGTGGATGGATGGATAAATGAATGGATGAATGAATGGGTTGAAGAATGAATGGATAAGTGGTTGGATGGACAAGTTTATGGGTGGATGGGTTGATGGGAGGTGCGTGGATAGATAGATGGGTGAGTGGATAGGTGTGTGGACAGATTGATATGCAGGCTGATTGGCTCACAGACAAGGTGGATGGGGATGGACAGGTGGACAGATACGTGGATGAATGGACAGTTCAATGGATAAGTGAACAGAAGTGTGTGGTTGCATGGGTAGAAAAATGAGTGGATGGATAGATGGAAAGGTGGGCACATGGGTAGGTGGATGGGTGGATGGACAAGTGTGTGTGAGGACAGACTGGTGGACAAATGGGTGAACAGACATATGTGGGCAGATAGTTGCAGAGACAGATGTATGGACAGATCAGTAGTCCAACAGATGAATGTGAATGAATAGGTGGACAAATGCATGGGATAGATGGGGAAAGAGGGATGGGTGGATGGATCAGCACCACAAACTATGGAGCCCTTCTAATTCCATAACTCCTGCCTATACTCATTCACTCATTCAGTCTCATTCATTAATTCTGGCCCCTCAGAGTCTCTTTGGGCAGGAGAGGGCAAGAGGGNNNN
|
pathogenic
| 333,969 |
Determine if the mutation at chromosome X, position 48686772 in gene WAS (WASP actin nucleation promoting factor) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
benign
|
TCTAAACTCAACATTTTGCATCCCAGGAATCTCTCATCAAAACTCCTGAACCCCAGATGTTTGCCAAGCTCCTAAGTCATAAATCTGTTCAACAAACCCCAAAGTTGAATATTCCATTGATCCTTGAACTCCAAATCTGTCCTTCTAAATCCACAGCACAGACCCCAGAGTTCCCATATTAAAATTCCTGAACACTCAAATACCGAGGTAGTTCTTAAGCAAAAAGTCTTTTCCACAATCCCCTGACCTGAACTTTCTAGGTTTAAGCCCCAAATTCATCCTTTTAAACCCATAAAGATGGACCCAGCATAACTTCCAGATCCCAAGGCTATCAAATATCCACCAAACTCCTAAACCATAACTCTCTCCACAAACCCCAAATTGCACTTACTTTAGCTGGACTCCCCGCGAAACTCCCAAGTCTATGTGTCTGAACTTCAAATCTCAACTCCAACCCCCAAATACTAGAATCCTACCTGTCATGAATTGGGGCTGGGGTGGTGGGGGAGGGCATGGATTGAATCTGTGAATGAGCCTCAACTTCCTAAGACTAGAGTCCTAAATTATGAAATTCAAGCCCCCAAGTCCCAGATCTAGGGCCCCAAACCCCAAATCCAAACCTCTCACAAAAGTGTATGGCTCCCAGACTATACCCCACAATCCACACCCTTAGACACCAACTCTCTGGTGCTGAGCTGAAAATCTCCAAACCAGACTATGAGGCTCCCAAATCCAGACACCCTGCTCCCTGCCCAGCTAACAAAAGCCTGCCACCCCCGGCGTGCCTCAGTGCCACTGTGCCTCCCACCCTACACCTCTCCAGGCTGGTCGGCTGCTCTGGGAACAGGAGCTGTACTCACAGCTTGTCTACTCCACCCCCACCCCCTTCTTCCACACCTTCGCTGGAGATGTAAGTGATCAACCAGCCCTCGGGCCTCACTTGGGGTGTGGAGAGGAGATGGGAAAGTTGCGGGGGACCTGGGAGGCGGCTGACCCCAAGGTATGTGCAGGACTGCCAAGCGGGGCTGAACTTTGCAGACGAGGACGAGGCCCAGGCCTTCCGGGCCCTCGTGCAGGAGAAGATACAAAAAAGGAATCAGAGGCAAAGTGGAGGTGAGGAGGCCACAGGGGAGGAAAGGAAGTTGGGCAGAGGTGAGTGCAAGCCTGGGGAACTAGAAAAGTCCCCTCTCATGGTCCTGGCTCCCAATCCATCTATCCACAGACAGACGCCAGCTACCCCCACCACCAACACCAGCCAATGAAGGTGAGTCCTCTAGTGCAAGTAGGGGTAATAAGGGGCTAGCCCAGGAACCTGTGGCAGGGCTGTGATAACTCTCTACACATTCCATCTTCCCAGAGAGAAGAGGAGGGCTCCCACCCCTGCCCCTGCATCCAGGTGGAGACCAAGGAGGTGCGTGCTGATTCTTCCCTGTGTCTCTGGATGGATGGGTAAGAGTGGATGGAGGAATGAGGAGTTGGATGGGTGCGTAAGTGGGTGAATGGATAGGTAGATTGATAGGTATGTGGATGGACGAGCAGGTGCATGGATGTGTGGACTGATGGATGGGTGGATGGATTGGCGGTAGATGGCTGAGTAGAGGGATGAATTGATGGGAGGATGAAAGTCTAAGTAGATAGATGCATAGGTGAATGGGTATGTGGATAAATGAATGAAAAGGTAGATGGATGACTGAGTAAATTAATCAATGAGTGAATGAATGAACAGTGAATAAATGACTAAATGACAAGTTTCAGTCAGTGAAGAAAGCATGATTGAATGAATAAATGAGTAAATGAATATTTTAACAAATTCATTAGTCAATGAGCCAGTGAATGATAAAGCATGAGGGAATGAAAACATGAATGAATCAGTGAATGTATGAATGGTTTGTGGGATCCACCCACTTCTCCATAGACCCTACTTGAACCCTTCACCCACTACCTCCATGACCATCCAACACACACACAGATTTCCCTCAAGGCTTCCGTTTCTTGCCCCTGTGCTTTGGTTGGTTGGTAAGTGGGTCAATGAGCCAACCACCCTATTTTCCCCACAGGCCCTCCAGTGGGTCCGCTCTCCCTGGGGCTGGCGACAGTGGACATCCAGAACCCTGACATCACGAGTTCACGATACCGTGGGCTCCCAGCACCTGGACCTAGCCCAGCTGATAAGAAACGCTCAGGGAAGAAGAAGATCAGCAAAGCTGATATTGGTGCACCCAGTGGATTCAAGTGAGAGCCACTCCCCAGTGGACCCACAGATTCCTGGGGGCAGAGGGGCACATGAACAAGTGGACAGCTGAGTGAATGGAAGGATGGGCAGATGGGCAGATGGCTGGGTGGCTGAGTGGGTAAATGGGTGGTTGGATAGGTAGGTGCAGGGCTGGGTCTAGGGAGAGGTAAATAAGGCACCAAGGGTACAAAATTTAAGGAGGCACTCACTCTCAGAGGCATGCAACTGTAATTCCTGACTCTCAGAGTGAGTGACTCACTTAAATTTTGCACCCTAGGCACCTTACTTGCCTCACCCTGGGCCCACTCTGGGTGGGCTGTTAGGAGAGCAGGTGGGTGGGCAGGTGAACAAATGGATAGATAGATGAGGTAGATGATGGATGAGAAGGGCTGGTGGGTAGGTGGGTGAGTGGATGGGTGGATGGATGGATAAATGAATGGATGAATGAATGGGTTGAAGAATGAATGGATAAGTGGTTGGATGGACAAGTTTATGGGTGGATGGGTTGATGGGAGGTGCGTGGATAGATAGATGGGTGAGTGGATAGGTGTGTGGACAGATTGATATGCAGGCTGATTGGCTCACAGACAAGGTGGATGGGGATGGACAGGTGGACAGATACGTGGATGAATGGACAGTTCAATGGATAAGTGAACAGAAGTGTGTGGTTGCATGGGTAGAAAAATGAGTGGATGGATAGATGGAAAGGTGGGCACATGGGTAGGTGGATGGGTGGATGGACAAGTGTGTGTGAGGACAGACTGGTGGACAAATGGGTGAACAGACATATGTGGGCAGATAGTTGCAGAGACAGATGTATGGACAGATCAGTAGTCCAACAGATGAATGTGAATGAATAGGTGGACAAATGCATGGGATAGATGGGGAAAGAGGGATGGGTGGATGGATCAGCACCACAAACTATGGAGCCCTTCTAATTCCATAACTCCTGCCTATACTCATTCACTCATTCAGTCTCATTCATTAATTCTGGCCCCTCAGAGTCTCTTTGGGCAGGAGAGGGCAAGAGGGTTTCACTATGAAGGGAGGGAAGGAAGGGCAGTGAGGATTCACTGGAGTCTCTTCACCTCTCCCAGGCATGTCAGCCACGTGGGGTGGGACCCCCAGAATGGATTTGACGTGAGTAACTTCAGAGTCTCTTGGACTCCACTAAACTTCCACCCACCCTTCCAAAGACCACTGCTGAGACCCCACCCCCAGATCGTGCCCTTCCCACACCCCTCTCAGATCCCTTGCTGGGATGGACCCAACGACAATCCATGTCGCTTGTCTCCTCGCCTTATTCCTCTACTCCTGCCCCTGGCCTTTTTCCTCCTGGGCAGGTGAACAACCTCGACCCAGATCTGCGGAGTCTGTTCTCCAGGGCAGGAATCAGCGAGGCCCAGCTCACCGACGCCGAGACCTCTAAACTTATCTACGACTTCATTGAGGACCAGGGTGGGCTGGAGGCTGTGCGGCAGGAGATGAGGCGCCAGGGTGAGACCCTGCTTCCATACGCTCCCTTCTCTAGCCCAAGCAGCTCATAGCTAAGATACGCACTAAGTCACTCAGTCCTTATGGGAGCACCTATACTGCTTCAGTCAGGAGTTGGTCAGTGGGGGTACCCATTTTACAAATGAGCAAAACTGAGGCTCAGAAGAAATCAATGAGAGTTACAGCTATGTGTTATACCCCCTCCACAGAGCCACTTCCGCCGCCCCCACCGCCATCTCGAGGAGGGAACCAGCTCCCCCGGCCCCCTATTGTGGGGGGTAACAAGGGTCGTTCTGGTCCACTGCCCCCTGTACCTTTGGGGATTGCCCCACCCCCACCAACACCCCGGGGACCCCCACCCCCAGGCCG
|
TCTAAACTCAACATTTTGCATCCCAGGAATCTCTCATCAAAACTCCTGAACCCCAGATGTTTGCCAAGCTCCTAAGTCATAAATCTGTTCAACAAACCCCAAAGTTGAATATTCCATTGATCCTTGAACTCCAAATCTGTCCTTCTAAATCCACAGCACAGACCCCAGAGTTCCCATATTAAAATTCCTGAACACTCAAATACCGAGGTAGTTCTTAAGCAAAAAGTCTTTTCCACAATCCCCTGACCTGAACTTTCTAGGTTTAAGCCCCAAATTCATCCTTTTAAACCCATAAAGATGGACCCAGCATAACTTCCAGATCCCAAGGCTATCAAATATCCACCAAACTCCTAAACCATAACTCTCTCCACAAACCCCAAATTGCACTTACTTTAGCTGGACTCCCCGCGAAACTCCCAAGTCTATGTGTCTGAACTTCAAATCTCAACTCCAACCCCCAAATACTAGAATCCTACCTGTCATGAATTGGGGCTGGGGTGGTGGGGGAGGGCATGGATTGAATCTGTGAATGAGCCTCAACTTCCTAAGACTAGAGTCCTAAATTATGAAATTCAAGCCCCCAAGTCCCAGATCTAGGGCCCCAAACCCCAAATCCAAACCTCTCACAAAAGTGTATGGCTCCCAGACTATACCCCACAATCCACACCCTTAGACACCAACTCTCTGGTGCTGAGCTGAAAATCTCCAAACCAGACTATGAGGCTCCCAAATCCAGACACCCTGCTCCCTGCCCAGCTAACAAAAGCCTGCCACCCCCGGCGTGCCTCAGTGCCACTGTGCCTCCCACCCTACACCTCTCCAGGCTGGTCGGCTGCTCTGGGAACAGGAGCTGTACTCACAGCTTGTCTACTCCACCCCCACCCCCTTCTTCCACACCTTCGCTGGAGATGTAAGTGATCAACCAGCCCTCGGGCCTCACTTGGGGTGTGGAGAGGAGATGGGAAAGTTGCGGGGGACCTGGGAGGCGGCTGACCCCAAGGTATGTGCAGGACTGCCAAGCGGGGCTGAACTTTGCAGACGAGGACGAGGCCCAGGCCTTCCGGGCCCTCGTGCAGGAGAAGATACAAAAAAGGAATCAGAGGCAAAGTGGAGGTGAGGAGGCCACAGGGGAGGAAAGGAAGTTGGGCAGAGGTGAGTGCAAGCCTGGGGAACTAGAAAAGTCCCCTCTCATGGTCCTGGCTCCCAATCCATCTATCCACAGACAGACGCCAGCTACCCCCACCACCAACACCAGCCAATGAAGGTGAGTCCTCTAGTGCAAGTAGGGGTAATAAGGGGCTAGCCCAGGAACCTGTGGCAGGGCTGTGATAACTCTCTACACATTCCATCTTCCCAGAGAGAAGAGGAGGGCTCCCACCCCTGCCCCTGCATCCAGGTGGAGACCAAGGAGGTGCGTGCTGATTCTTCCCTGTGTCTCTGGATGGATGGGTAAGAGTGGATGGAGGAATGAGGAGTTGGATGGGTGCGTAAGTGGGTGAATGGATAGGTAGATTGATAGGTATGTGGATGGACGAGCAGGTGCATGGATGTGTGGACTGATGGATGGGTGGATGGATTGGCGGTAGATGGCTGAGTAGAGGGATGAATTGATGGGAGGATGAAAGTCTAAGTAGATAGATGCATAGGTGAATGGGTATGTGGATAAATGAATGAAAAGGTAGATGGATGACTGAGTAAATTAATCAATGAGTGAATGAATGAACAGTGAATAAATGACTAAATGACAAGTTTCAGTCAGTGAAGAAAGCATGATTGAATGAATAAATGAGTAAATGAATATTTTAACAAATTCATTAGTCAATGAGCCAGTGAATGATAAAGCATGAGGGAATGAAAACATGAATGAATCAGTGAATGTATGAATGGTTTGTGGGATCCACCCACTTCTCCATAGACCCTACTTGAACCCTTCACCCACTACCTCCATGACCATCCAACACACACACAGATTTCCCTCAAGGCTTCCGTTTCTTGCCCCTGTGCTTTGGTTGGTTGGTAAGTGGGTCAATGAGCCAACCACCCTATTTTCCCCCACAGGCCCTCCAGTGGGTCCGCTCTCCCTGGGGCTGGCGACAGTGGACATCCAGAACCCTGACATCACGAGTTCACGATACCGTGGGCTCCCAGCACCTGGACCTAGCCCAGCTGATAAGAAACGCTCAGGGAAGAAGAAGATCAGCAAAGCTGATATTGGTGCACCCAGTGGATTCAAGTGAGAGCCACTCCCCAGTGGACCCACAGATTCCTGGGGGCAGAGGGGCACATGAACAAGTGGACAGCTGAGTGAATGGAAGGATGGGCAGATGGGCAGATGGCTGGGTGGCTGAGTGGGTAAATGGGTGGTTGGATAGGTAGGTGCAGGGCTGGGTCTAGGGAGAGGTAAATAAGGCACCAAGGGTACAAAATTTAAGGAGGCACTCACTCTCAGAGGCATGCAACTGTAATTCCTGACTCTCAGAGTGAGTGACTCACTTAAATTTTGCACCCTAGGCACCTTACTTGCCTCACCCTGGGCCCACTCTGGGTGGGCTGTTAGGAGAGCAGGTGGGTGGGCAGGTGAACAAATGGATAGATAGATGAGGTAGATGATGGATGAGAAGGGCTGGTGGGTAGGTGGGTGAGTGGATGGGTGGATGGATGGATAAATGAATGGATGAATGAATGGGTTGAAGAATGAATGGATAAGTGGTTGGATGGACAAGTTTATGGGTGGATGGGTTGATGGGAGGTGCGTGGATAGATAGATGGGTGAGTGGATAGGTGTGTGGACAGATTGATATGCAGGCTGATTGGCTCACAGACAAGGTGGATGGGGATGGACAGGTGGACAGATACGTGGATGAATGGACAGTTCAATGGATAAGTGAACAGAAGTGTGTGGTTGCATGGGTAGAAAAATGAGTGGATGGATAGATGGAAAGGTGGGCACATGGGTAGGTGGATGGGTGGATGGACAAGTGTGTGTGAGGACAGACTGGTGGACAAATGGGTGAACAGACATATGTGGGCAGATAGTTGCAGAGACAGATGTATGGACAGATCAGTAGTCCAACAGATGAATGTGAATGAATAGGTGGACAAATGCATGGGATAGATGGGGAAAGAGGGATGGGTGGATGGATCAGCACCACAAACTATGGAGCCCTTCTAATTCCATAACTCCTGCCTATACTCATTCACTCATTCAGTCTCATTCATTAATTCTGGCCCCTCAGAGTCTCTTTGGGCAGGAGAGGGCAAGAGGGTTTCACTATGAAGGGAGGGAAGGAAGGGCAGTGAGGATTCACTGGAGTCTCTTCACCTCTCCCAGGCATGTCAGCCACGTGGGGTGGGACCCCCAGAATGGATTTGACGTGAGTAACTTCAGAGTCTCTTGGACTCCACTAAACTTCCACCCACCCTTCCAAAGACCACTGCTGAGACCCCACCCCCAGATCGTGCCCTTCCCACACCCCTCTCAGATCCCTTGCTGGGATGGACCCAACGACAATCCATGTCGCTTGTCTCCTCGCCTTATTCCTCTACTCCTGCCCCTGGCCTTTTTCCTCCTGGGCAGGTGAACAACCTCGACCCAGATCTGCGGAGTCTGTTCTCCAGGGCAGGAATCAGCGAGGCCCAGCTCACCGACGCCGAGACCTCTAAACTTATCTACGACTTCATTGAGGACCAGGGTGGGCTGGAGGCTGTGCGGCAGGAGATGAGGCGCCAGGGTGAGACCCTGCTTCCATACGCTCCCTTCTCTAGCCCAAGCAGCTCATAGCTAAGATACGCACTAAGTCACTCAGTCCTTATGGGAGCACCTATACTGCTTCAGTCAGGAGTTGGTCAGTGGGGGTACCCATTTTACAAATGAGCAAAACTGAGGCTCAGAAGAAATCAATGAGAGTTACAGCTATGTGTTATACCCCCTCCACAGAGCCACTTCCGCCGCCCCCACCGCCATCTCGAGGAGGGAACCAGCTCCCCCGGCCCCCTATTGTGGGGGGTAACAAGGGTCGTTCTGGTCCACTGCCCCCTGTACCTTTGGGGATTGCCCCACCCCCACCAACACCCCGGGGACCCCCACCCCCAGGCC
|
benign
| 333,975 |
Regarding the variant found on chromosome X at position 48686941 in gene WAS (WASP actin nucleation promoting factor): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Thrombocytopenia_1', 'Wiskott-Aldrich_syndrome', 'X-linked_severe_congenital_neutropenia']
|
GTTCCCATATTAAAATTCCTGAACACTCAAATACCGAGGTAGTTCTTAAGCAAAAAGTCTTTTCCACAATCCCCTGACCTGAACTTTCTAGGTTTAAGCCCCAAATTCATCCTTTTAAACCCATAAAGATGGACCCAGCATAACTTCCAGATCCCAAGGCTATCAAATATCCACCAAACTCCTAAACCATAACTCTCTCCACAAACCCCAAATTGCACTTACTTTAGCTGGACTCCCCGCGAAACTCCCAAGTCTATGTGTCTGAACTTCAAATCTCAACTCCAACCCCCAAATACTAGAATCCTACCTGTCATGAATTGGGGCTGGGGTGGTGGGGGAGGGCATGGATTGAATCTGTGAATGAGCCTCAACTTCCTAAGACTAGAGTCCTAAATTATGAAATTCAAGCCCCCAAGTCCCAGATCTAGGGCCCCAAACCCCAAATCCAAACCTCTCACAAAAGTGTATGGCTCCCAGACTATACCCCACAATCCACACCCTTAGACACCAACTCTCTGGTGCTGAGCTGAAAATCTCCAAACCAGACTATGAGGCTCCCAAATCCAGACACCCTGCTCCCTGCCCAGCTAACAAAAGCCTGCCACCCCCGGCGTGCCTCAGTGCCACTGTGCCTCCCACCCTACACCTCTCCAGGCTGGTCGGCTGCTCTGGGAACAGGAGCTGTACTCACAGCTTGTCTACTCCACCCCCACCCCCTTCTTCCACACCTTCGCTGGAGATGTAAGTGATCAACCAGCCCTCGGGCCTCACTTGGGGTGTGGAGAGGAGATGGGAAAGTTGCGGGGGACCTGGGAGGCGGCTGACCCCAAGGTATGTGCAGGACTGCCAAGCGGGGCTGAACTTTGCAGACGAGGACGAGGCCCAGGCCTTCCGGGCCCTCGTGCAGGAGAAGATACAAAAAAGGAATCAGAGGCAAAGTGGAGGTGAGGAGGCCACAGGGGAGGAAAGGAAGTTGGGCAGAGGTGAGTGCAAGCCTGGGGAACTAGAAAAGTCCCCTCTCATGGTCCTGGCTCCCAATCCATCTATCCACAGACAGACGCCAGCTACCCCCACCACCAACACCAGCCAATGAAGGTGAGTCCTCTAGTGCAAGTAGGGGTAATAAGGGGCTAGCCCAGGAACCTGTGGCAGGGCTGTGATAACTCTCTACACATTCCATCTTCCCAGAGAGAAGAGGAGGGCTCCCACCCCTGCCCCTGCATCCAGGTGGAGACCAAGGAGGTGCGTGCTGATTCTTCCCTGTGTCTCTGGATGGATGGGTAAGAGTGGATGGAGGAATGAGGAGTTGGATGGGTGCGTAAGTGGGTGAATGGATAGGTAGATTGATAGGTATGTGGATGGACGAGCAGGTGCATGGATGTGTGGACTGATGGATGGGTGGATGGATTGGCGGTAGATGGCTGAGTAGAGGGATGAATTGATGGGAGGATGAAAGTCTAAGTAGATAGATGCATAGGTGAATGGGTATGTGGATAAATGAATGAAAAGGTAGATGGATGACTGAGTAAATTAATCAATGAGTGAATGAATGAACAGTGAATAAATGACTAAATGACAAGTTTCAGTCAGTGAAGAAAGCATGATTGAATGAATAAATGAGTAAATGAATATTTTAACAAATTCATTAGTCAATGAGCCAGTGAATGATAAAGCATGAGGGAATGAAAACATGAATGAATCAGTGAATGTATGAATGGTTTGTGGGATCCACCCACTTCTCCATAGACCCTACTTGAACCCTTCACCCACTACCTCCATGACCATCCAACACACACACAGATTTCCCTCAAGGCTTCCGTTTCTTGCCCCTGTGCTTTGGTTGGTTGGTAAGTGGGTCAATGAGCCAACCACCCTATTTTCCCCACAGGCCCTCCAGTGGGTCCGCTCTCCCTGGGGCTGGCGACAGTGGACATCCAGAACCCTGACATCACGAGTTCACGATACCGTGGGCTCCCAGCACCTGGACCTAGCCCAGCTGATAAGAAACGCTCAGGGAAGAAGAAGATCAGCAAAGCTGATATTGGTGCACCCAGTGGATTCAAGTGAGAGCCACTCCCCAGTGGACCCACAGATTCCTGGGGGCAGAGGGGCACATGAACAAGTGGACAGCTGAGTGAATGGAAGGATGGGCAGATGGGCAGATGGCTGGGTGGCTGAGTGGGTAAATGGGTGGTTGGATAGGTAGGTGCAGGGCTGGGTCTAGGGAGAGGTAAATAAGGCACCAAGGGTACAAAATTTAAGGAGGCACTCACTCTCAGAGGCATGCAACTGTAATTCCTGACTCTCAGAGTGAGTGACTCACTTAAATTTTGCACCCTAGGCACCTTACTTGCCTCACCCTGGGCCCACTCTGGGTGGGCTGTTAGGAGAGCAGGTGGGTGGGCAGGTGAACAAATGGATAGATAGATGAGGTAGATGATGGATGAGAAGGGCTGGTGGGTAGGTGGGTGAGTGGATGGGTGGATGGATGGATAAATGAATGGATGAATGAATGGGTTGAAGAATGAATGGATAAGTGGTTGGATGGACAAGTTTATGGGTGGATGGGTTGATGGGAGGTGCGTGGATAGATAGATGGGTGAGTGGATAGGTGTGTGGACAGATTGATATGCAGGCTGATTGGCTCACAGACAAGGTGGATGGGGATGGACAGGTGGACAGATACGTGGATGAATGGACAGTTCAATGGATAAGTGAACAGAAGTGTGTGGTTGCATGGGTAGAAAAATGAGTGGATGGATAGATGGAAAGGTGGGCACATGGGTAGGTGGATGGGTGGATGGACAAGTGTGTGTGAGGACAGACTGGTGGACAAATGGGTGAACAGACATATGTGGGCAGATAGTTGCAGAGACAGATGTATGGACAGATCAGTAGTCCAACAGATGAATGTGAATGAATAGGTGGACAAATGCATGGGATAGATGGGGAAAGAGGGATGGGTGGATGGATCAGCACCACAAACTATGGAGCCCTTCTAATTCCATAACTCCTGCCTATACTCATTCACTCATTCAGTCTCATTCATTAATTCTGGCCCCTCAGAGTCTCTTTGGGCAGGAGAGGGCAAGAGGGTTTCACTATGAAGGGAGGGAAGGAAGGGCAGTGAGGATTCACTGGAGTCTCTTCACCTCTCCCAGGCATGTCAGCCACGTGGGGTGGGACCCCCAGAATGGATTTGACGTGAGTAACTTCAGAGTCTCTTGGACTCCACTAAACTTCCACCCACCCTTCCAAAGACCACTGCTGAGACCCCACCCCCAGATCGTGCCCTTCCCACACCCCTCTCAGATCCCTTGCTGGGATGGACCCAACGACAATCCATGTCGCTTGTCTCCTCGCCTTATTCCTCTACTCCTGCCCCTGGCCTTTTTCCTCCTGGGCAGGTGAACAACCTCGACCCAGATCTGCGGAGTCTGTTCTCCAGGGCAGGAATCAGCGAGGCCCAGCTCACCGACGCCGAGACCTCTAAACTTATCTACGACTTCATTGAGGACCAGGGTGGGCTGGAGGCTGTGCGGCAGGAGATGAGGCGCCAGGGTGAGACCCTGCTTCCATACGCTCCCTTCTCTAGCCCAAGCAGCTCATAGCTAAGATACGCACTAAGTCACTCAGTCCTTATGGGAGCACCTATACTGCTTCAGTCAGGAGTTGGTCAGTGGGGGTACCCATTTTACAAATGAGCAAAACTGAGGCTCAGAAGAAATCAATGAGAGTTACAGCTATGTGTTATACCCCCTCCACAGAGCCACTTCCGCCGCCCCCACCGCCATCTCGAGGAGGGAACCAGCTCCCCCGGCCCCCTATTGTGGGGGGTAACAAGGGTCGTTCTGGTCCACTGCCCCCTGTACCTTTGGGGATTGCCCCACCCCCACCAACACCCCGGGGACCCCCACCCCCAGGCCGAGGGGGCCCTCCACCACCACCCCCTCCAGCTACTGGACGTTCTGGACCACTGCCCCCTCCACCCCCTGGAGCTGGTGGGCCACCCATGCCACCACCACCGCCACCACCGCCACCGCCGCCCAGCTCCGGGAATGGACCAGCCCCTCCCCCACTCCCTCCTGCTCTGGTG
|
GTTCCCATATTAAAATTCCTGAACACTCAAATACCGAGGTAGTTCTTAAGCAAAAAGTCTTTTCCACAATCCCCTGACCTGAACTTTCTAGGTTTAAGCCCCAAATTCATCCTTTTAAACCCATAAAGATGGACCCAGCATAACTTCCAGATCCCAAGGCTATCAAATATCCACCAAACTCCTAAACCATAACTCTCTCCACAAACCCCAAATTGCACTTACTTTAGCTGGACTCCCCGCGAAACTCCCAAGTCTATGTGTCTGAACTTCAAATCTCAACTCCAACCCCCAAATACTAGAATCCTACCTGTCATGAATTGGGGCTGGGGTGGTGGGGGAGGGCATGGATTGAATCTGTGAATGAGCCTCAACTTCCTAAGACTAGAGTCCTAAATTATGAAATTCAAGCCCCCAAGTCCCAGATCTAGGGCCCCAAACCCCAAATCCAAACCTCTCACAAAAGTGTATGGCTCCCAGACTATACCCCACAATCCACACCCTTAGACACCAACTCTCTGGTGCTGAGCTGAAAATCTCCAAACCAGACTATGAGGCTCCCAAATCCAGACACCCTGCTCCCTGCCCAGCTAACAAAAGCCTGCCACCCCCGGCGTGCCTCAGTGCCACTGTGCCTCCCACCCTACACCTCTCCAGGCTGGTCGGCTGCTCTGGGAACAGGAGCTGTACTCACAGCTTGTCTACTCCACCCCCACCCCCTTCTTCCACACCTTCGCTGGAGATGTAAGTGATCAACCAGCCCTCGGGCCTCACTTGGGGTGTGGAGAGGAGATGGGAAAGTTGCGGGGGACCTGGGAGGCGGCTGACCCCAAGGTATGTGCAGGACTGCCAAGCGGGGCTGAACTTTGCAGACGAGGACGAGGCCCAGGCCTTCCGGGCCCTCGTGCAGGAGAAGATACAAAAAAGGAATCAGAGGCAAAGTGGAGGTGAGGAGGCCACAGGGGAGGAAAGGAAGTTGGGCAGAGGTGAGTGCAAGCCTGGGGAACTAGAAAAGTCCCCTCTCATGGTCCTGGCTCCCAATCCATCTATCCACAGACAGACGCCAGCTACCCCCACCACCAACACCAGCCAATGAAGGTGAGTCCTCTAGTGCAAGTAGGGGTAATAAGGGGCTAGCCCAGGAACCTGTGGCAGGGCTGTGATAACTCTCTACACATTCCATCTTCCCAGAGAGAAGAGGAGGGCTCCCACCCCTGCCCCTGCATCCAGGTGGAGACCAAGGAGGTGCGTGCTGATTCTTCCCTGTGTCTCTGGATGGATGGGTAAGAGTGGATGGAGGAATGAGGAGTTGGATGGGTGCGTAAGTGGGTGAATGGATAGGTAGATTGATAGGTATGTGGATGGACGAGCAGGTGCATGGATGTGTGGACTGATGGATGGGTGGATGGATTGGCGGTAGATGGCTGAGTAGAGGGATGAATTGATGGGAGGATGAAAGTCTAAGTAGATAGATGCATAGGTGAATGGGTATGTGGATAAATGAATGAAAAGGTAGATGGATGACTGAGTAAATTAATCAATGAGTGAATGAATGAACAGTGAATAAATGACTAAATGACAAGTTTCAGTCAGTGAAGAAAGCATGATTGAATGAATAAATGAGTAAATGAATATTTTAACAAATTCATTAGTCAATGAGCCAGTGAATGATAAAGCATGAGGGAATGAAAACATGAATGAATCAGTGAATGTATGAATGGTTTGTGGGATCCACCCACTTCTCCATAGACCCTACTTGAACCCTTCACCCACTACCTCCATGACCATCCAACACACACACAGATTTCCCTCAAGGCTTCCGTTTCTTGCCCCTGTGCTTTGGTTGGTTGGTAAGTGGGTCAATGAGCCAACCACCCTATTTTCCCCACAGGCCCTCCAGTGGGTCCGCTCTCCCTGGGGCTGGCGACAGTGGACATCCAGAACCCTGACATCACGAGTTCACGATACCGTGGGCTCCCAGCACCTGGACCTAGCCCAGCTGATAAGAAACGCTCAGGGAAGAAGAAGATCAGCAAAGCTGATATTGGTGCACCAGTGGATTCAAGTGAGAGCCACTCCCCAGTGGACCCACAGATTCCTGGGGGCAGAGGGGCACATGAACAAGTGGACAGCTGAGTGAATGGAAGGATGGGCAGATGGGCAGATGGCTGGGTGGCTGAGTGGGTAAATGGGTGGTTGGATAGGTAGGTGCAGGGCTGGGTCTAGGGAGAGGTAAATAAGGCACCAAGGGTACAAAATTTAAGGAGGCACTCACTCTCAGAGGCATGCAACTGTAATTCCTGACTCTCAGAGTGAGTGACTCACTTAAATTTTGCACCCTAGGCACCTTACTTGCCTCACCCTGGGCCCACTCTGGGTGGGCTGTTAGGAGAGCAGGTGGGTGGGCAGGTGAACAAATGGATAGATAGATGAGGTAGATGATGGATGAGAAGGGCTGGTGGGTAGGTGGGTGAGTGGATGGGTGGATGGATGGATAAATGAATGGATGAATGAATGGGTTGAAGAATGAATGGATAAGTGGTTGGATGGACAAGTTTATGGGTGGATGGGTTGATGGGAGGTGCGTGGATAGATAGATGGGTGAGTGGATAGGTGTGTGGACAGATTGATATGCAGGCTGATTGGCTCACAGACAAGGTGGATGGGGATGGACAGGTGGACAGATACGTGGATGAATGGACAGTTCAATGGATAAGTGAACAGAAGTGTGTGGTTGCATGGGTAGAAAAATGAGTGGATGGATAGATGGAAAGGTGGGCACATGGGTAGGTGGATGGGTGGATGGACAAGTGTGTGTGAGGACAGACTGGTGGACAAATGGGTGAACAGACATATGTGGGCAGATAGTTGCAGAGACAGATGTATGGACAGATCAGTAGTCCAACAGATGAATGTGAATGAATAGGTGGACAAATGCATGGGATAGATGGGGAAAGAGGGATGGGTGGATGGATCAGCACCACAAACTATGGAGCCCTTCTAATTCCATAACTCCTGCCTATACTCATTCACTCATTCAGTCTCATTCATTAATTCTGGCCCCTCAGAGTCTCTTTGGGCAGGAGAGGGCAAGAGGGTTTCACTATGAAGGGAGGGAAGGAAGGGCAGTGAGGATTCACTGGAGTCTCTTCACCTCTCCCAGGCATGTCAGCCACGTGGGGTGGGACCCCCAGAATGGATTTGACGTGAGTAACTTCAGAGTCTCTTGGACTCCACTAAACTTCCACCCACCCTTCCAAAGACCACTGCTGAGACCCCACCCCCAGATCGTGCCCTTCCCACACCCCTCTCAGATCCCTTGCTGGGATGGACCCAACGACAATCCATGTCGCTTGTCTCCTCGCCTTATTCCTCTACTCCTGCCCCTGGCCTTTTTCCTCCTGGGCAGGTGAACAACCTCGACCCAGATCTGCGGAGTCTGTTCTCCAGGGCAGGAATCAGCGAGGCCCAGCTCACCGACGCCGAGACCTCTAAACTTATCTACGACTTCATTGAGGACCAGGGTGGGCTGGAGGCTGTGCGGCAGGAGATGAGGCGCCAGGGTGAGACCCTGCTTCCATACGCTCCCTTCTCTAGCCCAAGCAGCTCATAGCTAAGATACGCACTAAGTCACTCAGTCCTTATGGGAGCACCTATACTGCTTCAGTCAGGAGTTGGTCAGTGGGGGTACCCATTTTACAAATGAGCAAAACTGAGGCTCAGAAGAAATCAATGAGAGTTACAGCTATGTGTTATACCCCCTCCACAGAGCCACTTCCGCCGCCCCCACCGCCATCTCGAGGAGGGAACCAGCTCCCCCGGCCCCCTATTGTGGGGGGTAACAAGGGTCGTTCTGGTCCACTGCCCCCTGTACCTTTGGGGATTGCCCCACCCCCACCAACACCCCGGGGACCCCCACCCCCAGGCCGAGGGGGCCCTCCACCACCACCCCCTCCAGCTACTGGACGTTCTGGACCACTGCCCCCTCCACCCCCTGGAGCTGGTGGGCCACCCATGCCACCACCACCGCCACCACCGCCACCGCCGCCCAGCTCCGGGAATGGACCAGCCCCTCCCCCACTCCCTCCTGCTCTGGTGN
|
pathogenic
| 333,979 |
Is the genetic mutation found on chromosome X at position 48688723, within the gene WAS (WASP actin nucleation promoting factor), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Thrombocytopenia_1', 'Wiskott-Aldrich_syndrome', 'X-linked_severe_congenital_neutropenia']
|
CATCCAACACACACACAGATTTCCCTCAAGGCTTCCGTTTCTTGCCCCTGTGCTTTGGTTGGTTGGTAAGTGGGTCAATGAGCCAACCACCCTATTTTCCCCACAGGCCCTCCAGTGGGTCCGCTCTCCCTGGGGCTGGCGACAGTGGACATCCAGAACCCTGACATCACGAGTTCACGATACCGTGGGCTCCCAGCACCTGGACCTAGCCCAGCTGATAAGAAACGCTCAGGGAAGAAGAAGATCAGCAAAGCTGATATTGGTGCACCCAGTGGATTCAAGTGAGAGCCACTCCCCAGTGGACCCACAGATTCCTGGGGGCAGAGGGGCACATGAACAAGTGGACAGCTGAGTGAATGGAAGGATGGGCAGATGGGCAGATGGCTGGGTGGCTGAGTGGGTAAATGGGTGGTTGGATAGGTAGGTGCAGGGCTGGGTCTAGGGAGAGGTAAATAAGGCACCAAGGGTACAAAATTTAAGGAGGCACTCACTCTCAGAGGCATGCAACTGTAATTCCTGACTCTCAGAGTGAGTGACTCACTTAAATTTTGCACCCTAGGCACCTTACTTGCCTCACCCTGGGCCCACTCTGGGTGGGCTGTTAGGAGAGCAGGTGGGTGGGCAGGTGAACAAATGGATAGATAGATGAGGTAGATGATGGATGAGAAGGGCTGGTGGGTAGGTGGGTGAGTGGATGGGTGGATGGATGGATAAATGAATGGATGAATGAATGGGTTGAAGAATGAATGGATAAGTGGTTGGATGGACAAGTTTATGGGTGGATGGGTTGATGGGAGGTGCGTGGATAGATAGATGGGTGAGTGGATAGGTGTGTGGACAGATTGATATGCAGGCTGATTGGCTCACAGACAAGGTGGATGGGGATGGACAGGTGGACAGATACGTGGATGAATGGACAGTTCAATGGATAAGTGAACAGAAGTGTGTGGTTGCATGGGTAGAAAAATGAGTGGATGGATAGATGGAAAGGTGGGCACATGGGTAGGTGGATGGGTGGATGGACAAGTGTGTGTGAGGACAGACTGGTGGACAAATGGGTGAACAGACATATGTGGGCAGATAGTTGCAGAGACAGATGTATGGACAGATCAGTAGTCCAACAGATGAATGTGAATGAATAGGTGGACAAATGCATGGGATAGATGGGGAAAGAGGGATGGGTGGATGGATCAGCACCACAAACTATGGAGCCCTTCTAATTCCATAACTCCTGCCTATACTCATTCACTCATTCAGTCTCATTCATTAATTCTGGCCCCTCAGAGTCTCTTTGGGCAGGAGAGGGCAAGAGGGTTTCACTATGAAGGGAGGGAAGGAAGGGCAGTGAGGATTCACTGGAGTCTCTTCACCTCTCCCAGGCATGTCAGCCACGTGGGGTGGGACCCCCAGAATGGATTTGACGTGAGTAACTTCAGAGTCTCTTGGACTCCACTAAACTTCCACCCACCCTTCCAAAGACCACTGCTGAGACCCCACCCCCAGATCGTGCCCTTCCCACACCCCTCTCAGATCCCTTGCTGGGATGGACCCAACGACAATCCATGTCGCTTGTCTCCTCGCCTTATTCCTCTACTCCTGCCCCTGGCCTTTTTCCTCCTGGGCAGGTGAACAACCTCGACCCAGATCTGCGGAGTCTGTTCTCCAGGGCAGGAATCAGCGAGGCCCAGCTCACCGACGCCGAGACCTCTAAACTTATCTACGACTTCATTGAGGACCAGGGTGGGCTGGAGGCTGTGCGGCAGGAGATGAGGCGCCAGGGTGAGACCCTGCTTCCATACGCTCCCTTCTCTAGCCCAAGCAGCTCATAGCTAAGATACGCACTAAGTCACTCAGTCCTTATGGGAGCACCTATACTGCTTCAGTCAGGAGTTGGTCAGTGGGGGTACCCATTTTACAAATGAGCAAAACTGAGGCTCAGAAGAAATCAATGAGAGTTACAGCTATGTGTTATACCCCCTCCACAGAGCCACTTCCGCCGCCCCCACCGCCATCTCGAGGAGGGAACCAGCTCCCCCGGCCCCCTATTGTGGGGGGTAACAAGGGTCGTTCTGGTCCACTGCCCCCTGTACCTTTGGGGATTGCCCCACCCCCACCAACACCCCGGGGACCCCCACCCCCAGGCCGAGGGGGCCCTCCACCACCACCCCCTCCAGCTACTGGACGTTCTGGACCACTGCCCCCTCCACCCCCTGGAGCTGGTGGGCCACCCATGCCACCACCACCGCCACCACCGCCACCGCCGCCCAGCTCCGGGAATGGACCAGCCCCTCCCCCACTCCCTCCTGCTCTGGTGCCTGCCGGGGGCCTGGCCCCTGGTGGGGGTCGGGGAGCGCTTTTGGATCAAATCCGGCAGGGAATTCAGCTGAACAAGGTGAGGACAGGCAGGATGGAGGATTGGGGGTCTAGGACTCTGGGGTGTCCCGTCTAAGTCAGGATACTGGGGGGCTGAGGCCAGGACTGAGGAGAGTGCCAGGCCTTAGGGATTCAGTGATAGGGTTGAAAGGTTGGTGGGAAGCCTTGAAGGGGACTGGAGTGTGTGGGAGAGAAAATATTGATGGAGGGGCGGGGAGAAATGCTCCTTTCCCAGGCCCTAAGCCCTCTGTGCTGATCCCTGCCTGCTGCAGACCCCTGGGGCCCCAGAGAGCTCAGCGCTGCAGCCACCACCTCAGAGCTCAGAGGGACTGGTGGGGGCCCTGATGCACGTGATGCAGAAGAGAAGCAGAGCCATCCACTCCTCCGGTGAGCTGATCCTGCCGGGGCCTCAAACCTGGCTCCCAGGGCTAGCACTGGCCTCAAAACAATCCCAGCAGTCACCACCAATAGTGACATCAGCCCCATCTGTTTGACAGCATTAACATGAATCTTGTGTCAGCCTCGTTTTTGACAATGTTAACATTAAGTCATTATGTGACAATAATATAATTAACTCCAACTTTGACAGTAATATTAACATTAATGCCAGGGTGTGTCCACAATATTAATGTCATTCCCACATGTTCAGTACTATTAACATCAGCTGGCCGGCGCGGTGGCTCATGCCTGTAATCCAGGAACTTTGGGAGGCTAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATATAGTGAGACCTCGTTTCCATAAAAACTAAATTCAAAAAAAGTAGTCAAGCATAGTGGTGTGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGACCCTGGGAGGTCAAGGCAGCAGTGATCCATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGATCCTATCTCAAAAAAAAAAAAAATTAACCCATTATGTGATGACAATATTATGAAGAACACTATTGTTGACAATATTAATTTTAATTCCATGTATTAACAGATTTACATTAATTCATTATGACGTAACCTAATCTAATCTTTTAAAAAATTTTTTTGAAACAGGGTCTCGCTCTGTGTCCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCAGTGCAGCCTCAACCTCCCAGGCTCAAGCGATCCTCCCGCCTCAGCTCCCAAAGTAGCTGGGACTACAGGCGTGTGCCACCATACCTGGCTAATTTTTGGTGTTTTTTTGGTAGTGATGAGCTCTCACTACCAAGCTCTCACTACTCTCATGTTGCCCAGGCTGCTCTGCAACTCCAGGGCTCAAGCGATCTGCCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCAGGCCTGGCTGTTAACCTAATCTTTTTATAATAATGTTACTATTACTCTCTTAATCTGTCAGCAATACTGTCACTAATCCATTATATGATGCAAATATTAGTATCAACCTACTATAGGAACTTCATCTTTCGACAATGATTTTTTTTTTCTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTAACTGCAGACTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACGCCACTACGCCCAGCTAATTTTGATGTTATTGTCATTAACCCCATTATG
|
CATCCAACACACACACAGATTTCCCTCAAGGCTTCCGTTTCTTGCCCCTGTGCTTTGGTTGGTTGGTAAGTGGGTCAATGAGCCAACCACCCTATTTTCCCCACAGGCCCTCCAGTGGGTCCGCTCTCCCTGGGGCTGGCGACAGTGGACATCCAGAACCCTGACATCACGAGTTCACGATACCGTGGGCTCCCAGCACCTGGACCTAGCCCAGCTGATAAGAAACGCTCAGGGAAGAAGAAGATCAGCAAAGCTGATATTGGTGCACCCAGTGGATTCAAGTGAGAGCCACTCCCCAGTGGACCCACAGATTCCTGGGGGCAGAGGGGCACATGAACAAGTGGACAGCTGAGTGAATGGAAGGATGGGCAGATGGGCAGATGGCTGGGTGGCTGAGTGGGTAAATGGGTGGTTGGATAGGTAGGTGCAGGGCTGGGTCTAGGGAGAGGTAAATAAGGCACCAAGGGTACAAAATTTAAGGAGGCACTCACTCTCAGAGGCATGCAACTGTAATTCCTGACTCTCAGAGTGAGTGACTCACTTAAATTTTGCACCCTAGGCACCTTACTTGCCTCACCCTGGGCCCACTCTGGGTGGGCTGTTAGGAGAGCAGGTGGGTGGGCAGGTGAACAAATGGATAGATAGATGAGGTAGATGATGGATGAGAAGGGCTGGTGGGTAGGTGGGTGAGTGGATGGGTGGATGGATGGATAAATGAATGGATGAATGAATGGGTTGAAGAATGAATGGATAAGTGGTTGGATGGACAAGTTTATGGGTGGATGGGTTGATGGGAGGTGCGTGGATAGATAGATGGGTGAGTGGATAGGTGTGTGGACAGATTGATATGCAGGCTGATTGGCTCACAGACAAGGTGGATGGGGATGGACAGGTGGACAGATACGTGGATGAATGGACAGTTCAATGGATAAGTGAACAGAAGTGTGTGGTTGCATGGGTAGAAAAATGAGTGGATGGATAGATGGAAAGGTGGGCACATGGGTAGGTGGATGGGTGGATGGACAAGTGTGTGTGAGGACAGACTGGTGGACAAATGGGTGAACAGACATATGTGGGCAGATAGTTGCAGAGACAGATGTATGGACAGATCAGTAGTCCAACAGATGAATGTGAATGAATAGGTGGACAAATGCATGGGATAGATGGGGAAAGAGGGATGGGTGGATGGATCAGCACCACAAACTATGGAGCCCTTCTAATTCCATAACTCCTGCCTATACTCATTCACTCATTCAGTCTCATTCATTAATTCTGGCCCCTCAGAGTCTCTTTGGGCAGGAGAGGGCAAGAGGGTTTCACTATGAAGGGAGGGAAGGAAGGGCAGTGAGGATTCACTGGAGTCTCTTCACCTCTCCCAGGCATGTCAGCCACGTGGGGTGGGACCCCCAGAATGGATTTGACGTGAGTAACTTCAGAGTCTCTTGGACTCCACTAAACTTCCACCCACCCTTCCAAAGACCACTGCTGAGACCCCACCCCCAGATCGTGCCCTTCCCACACCCCTCTCAGATCCCTTGCTGGGATGGACCCAACGACAATCCATGTCGCTTGTCTCCTCGCCTTATTCCTCTACTCCTGCCCCTGGCCTTTTTCCTCCTGGGCAGGTGAACAACCTCGACCCAGATCTGCGGAGTCTGTTCTCCAGGGCAGGAATCAGCGAGGCCCAGCTCACCGACGCCGAGACCTCTAAACTTATCTACGACTTCATTGAGGACCAGGGTGGGCTGGAGGCTGTGCGGCAGGAGATGAGGCGCCAGGGTGAGACCCTGCTTCCATACGCTCCCTTCTCTAGCCCAAGCAGCTCATAGCTAAGATACGCACTAAGTCACTCAGTCCTTATGGGAGCACCTATACTGCTTCAGTCAGGAGTTGGTCAGTGGGGGTACCCATTTTACAAATGAGCAAAACTGAGGCTCAGAAGAAATCAATGAGAGTTACAGCTATGTGTTATACCCCCTCCACAGAGCCACTTCCGCCGCCCCCACCGCCATCTCGAGGAGGGAACCAGCTCCCCCGGCCCCCTATTGTGGGGGTAACAAGGGTCGTTCTGGTCCACTGCCCCCTGTACCTTTGGGGATTGCCCCACCCCCACCAACACCCCGGGGACCCCCACCCCCAGGCCGAGGGGGCCCTCCACCACCACCCCCTCCAGCTACTGGACGTTCTGGACCACTGCCCCCTCCACCCCCTGGAGCTGGTGGGCCACCCATGCCACCACCACCGCCACCACCGCCACCGCCGCCCAGCTCCGGGAATGGACCAGCCCCTCCCCCACTCCCTCCTGCTCTGGTGCCTGCCGGGGGCCTGGCCCCTGGTGGGGGTCGGGGAGCGCTTTTGGATCAAATCCGGCAGGGAATTCAGCTGAACAAGGTGAGGACAGGCAGGATGGAGGATTGGGGGTCTAGGACTCTGGGGTGTCCCGTCTAAGTCAGGATACTGGGGGGCTGAGGCCAGGACTGAGGAGAGTGCCAGGCCTTAGGGATTCAGTGATAGGGTTGAAAGGTTGGTGGGAAGCCTTGAAGGGGACTGGAGTGTGTGGGAGAGAAAATATTGATGGAGGGGCGGGGAGAAATGCTCCTTTCCCAGGCCCTAAGCCCTCTGTGCTGATCCCTGCCTGCTGCAGACCCCTGGGGCCCCAGAGAGCTCAGCGCTGCAGCCACCACCTCAGAGCTCAGAGGGACTGGTGGGGGCCCTGATGCACGTGATGCAGAAGAGAAGCAGAGCCATCCACTCCTCCGGTGAGCTGATCCTGCCGGGGCCTCAAACCTGGCTCCCAGGGCTAGCACTGGCCTCAAAACAATCCCAGCAGTCACCACCAATAGTGACATCAGCCCCATCTGTTTGACAGCATTAACATGAATCTTGTGTCAGCCTCGTTTTTGACAATGTTAACATTAAGTCATTATGTGACAATAATATAATTAACTCCAACTTTGACAGTAATATTAACATTAATGCCAGGGTGTGTCCACAATATTAATGTCATTCCCACATGTTCAGTACTATTAACATCAGCTGGCCGGCGCGGTGGCTCATGCCTGTAATCCAGGAACTTTGGGAGGCTAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATATAGTGAGACCTCGTTTCCATAAAAACTAAATTCAAAAAAAGTAGTCAAGCATAGTGGTGTGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGACCCTGGGAGGTCAAGGCAGCAGTGATCCATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGATCCTATCTCAAAAAAAAAAAAAATTAACCCATTATGTGATGACAATATTATGAAGAACACTATTGTTGACAATATTAATTTTAATTCCATGTATTAACAGATTTACATTAATTCATTATGACGTAACCTAATCTAATCTTTTAAAAAATTTTTTTGAAACAGGGTCTCGCTCTGTGTCCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCAGTGCAGCCTCAACCTCCCAGGCTCAAGCGATCCTCCCGCCTCAGCTCCCAAAGTAGCTGGGACTACAGGCGTGTGCCACCATACCTGGCTAATTTTTGGTGTTTTTTTGGTAGTGATGAGCTCTCACTACCAAGCTCTCACTACTCTCATGTTGCCCAGGCTGCTCTGCAACTCCAGGGCTCAAGCGATCTGCCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCAGGCCTGGCTGTTAACCTAATCTTTTTATAATAATGTTACTATTACTCTCTTAATCTGTCAGCAATACTGTCACTAATCCATTATATGATGCAAATATTAGTATCAACCTACTATAGGAACTTCATCTTTCGACAATGATTTTTTTTTTCTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTAACTGCAGACTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACGCCACTACGCCCAGCTAATTTTGATGTTATTGTCATTAACCCCATTATGN
|
pathogenic
| 333,994 |
Is the genetic variant on chromosome X, position 48688781, gene WAS (WASP actin nucleation promoting factor), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['X-linked_severe_congenital_neutropenia']
|
TTGGTTGGTAAGTGGGTCAATGAGCCAACCACCCTATTTTCCCCACAGGCCCTCCAGTGGGTCCGCTCTCCCTGGGGCTGGCGACAGTGGACATCCAGAACCCTGACATCACGAGTTCACGATACCGTGGGCTCCCAGCACCTGGACCTAGCCCAGCTGATAAGAAACGCTCAGGGAAGAAGAAGATCAGCAAAGCTGATATTGGTGCACCCAGTGGATTCAAGTGAGAGCCACTCCCCAGTGGACCCACAGATTCCTGGGGGCAGAGGGGCACATGAACAAGTGGACAGCTGAGTGAATGGAAGGATGGGCAGATGGGCAGATGGCTGGGTGGCTGAGTGGGTAAATGGGTGGTTGGATAGGTAGGTGCAGGGCTGGGTCTAGGGAGAGGTAAATAAGGCACCAAGGGTACAAAATTTAAGGAGGCACTCACTCTCAGAGGCATGCAACTGTAATTCCTGACTCTCAGAGTGAGTGACTCACTTAAATTTTGCACCCTAGGCACCTTACTTGCCTCACCCTGGGCCCACTCTGGGTGGGCTGTTAGGAGAGCAGGTGGGTGGGCAGGTGAACAAATGGATAGATAGATGAGGTAGATGATGGATGAGAAGGGCTGGTGGGTAGGTGGGTGAGTGGATGGGTGGATGGATGGATAAATGAATGGATGAATGAATGGGTTGAAGAATGAATGGATAAGTGGTTGGATGGACAAGTTTATGGGTGGATGGGTTGATGGGAGGTGCGTGGATAGATAGATGGGTGAGTGGATAGGTGTGTGGACAGATTGATATGCAGGCTGATTGGCTCACAGACAAGGTGGATGGGGATGGACAGGTGGACAGATACGTGGATGAATGGACAGTTCAATGGATAAGTGAACAGAAGTGTGTGGTTGCATGGGTAGAAAAATGAGTGGATGGATAGATGGAAAGGTGGGCACATGGGTAGGTGGATGGGTGGATGGACAAGTGTGTGTGAGGACAGACTGGTGGACAAATGGGTGAACAGACATATGTGGGCAGATAGTTGCAGAGACAGATGTATGGACAGATCAGTAGTCCAACAGATGAATGTGAATGAATAGGTGGACAAATGCATGGGATAGATGGGGAAAGAGGGATGGGTGGATGGATCAGCACCACAAACTATGGAGCCCTTCTAATTCCATAACTCCTGCCTATACTCATTCACTCATTCAGTCTCATTCATTAATTCTGGCCCCTCAGAGTCTCTTTGGGCAGGAGAGGGCAAGAGGGTTTCACTATGAAGGGAGGGAAGGAAGGGCAGTGAGGATTCACTGGAGTCTCTTCACCTCTCCCAGGCATGTCAGCCACGTGGGGTGGGACCCCCAGAATGGATTTGACGTGAGTAACTTCAGAGTCTCTTGGACTCCACTAAACTTCCACCCACCCTTCCAAAGACCACTGCTGAGACCCCACCCCCAGATCGTGCCCTTCCCACACCCCTCTCAGATCCCTTGCTGGGATGGACCCAACGACAATCCATGTCGCTTGTCTCCTCGCCTTATTCCTCTACTCCTGCCCCTGGCCTTTTTCCTCCTGGGCAGGTGAACAACCTCGACCCAGATCTGCGGAGTCTGTTCTCCAGGGCAGGAATCAGCGAGGCCCAGCTCACCGACGCCGAGACCTCTAAACTTATCTACGACTTCATTGAGGACCAGGGTGGGCTGGAGGCTGTGCGGCAGGAGATGAGGCGCCAGGGTGAGACCCTGCTTCCATACGCTCCCTTCTCTAGCCCAAGCAGCTCATAGCTAAGATACGCACTAAGTCACTCAGTCCTTATGGGAGCACCTATACTGCTTCAGTCAGGAGTTGGTCAGTGGGGGTACCCATTTTACAAATGAGCAAAACTGAGGCTCAGAAGAAATCAATGAGAGTTACAGCTATGTGTTATACCCCCTCCACAGAGCCACTTCCGCCGCCCCCACCGCCATCTCGAGGAGGGAACCAGCTCCCCCGGCCCCCTATTGTGGGGGGTAACAAGGGTCGTTCTGGTCCACTGCCCCCTGTACCTTTGGGGATTGCCCCACCCCCACCAACACCCCGGGGACCCCCACCCCCAGGCCGAGGGGGCCCTCCACCACCACCCCCTCCAGCTACTGGACGTTCTGGACCACTGCCCCCTCCACCCCCTGGAGCTGGTGGGCCACCCATGCCACCACCACCGCCACCACCGCCACCGCCGCCCAGCTCCGGGAATGGACCAGCCCCTCCCCCACTCCCTCCTGCTCTGGTGCCTGCCGGGGGCCTGGCCCCTGGTGGGGGTCGGGGAGCGCTTTTGGATCAAATCCGGCAGGGAATTCAGCTGAACAAGGTGAGGACAGGCAGGATGGAGGATTGGGGGTCTAGGACTCTGGGGTGTCCCGTCTAAGTCAGGATACTGGGGGGCTGAGGCCAGGACTGAGGAGAGTGCCAGGCCTTAGGGATTCAGTGATAGGGTTGAAAGGTTGGTGGGAAGCCTTGAAGGGGACTGGAGTGTGTGGGAGAGAAAATATTGATGGAGGGGCGGGGAGAAATGCTCCTTTCCCAGGCCCTAAGCCCTCTGTGCTGATCCCTGCCTGCTGCAGACCCCTGGGGCCCCAGAGAGCTCAGCGCTGCAGCCACCACCTCAGAGCTCAGAGGGACTGGTGGGGGCCCTGATGCACGTGATGCAGAAGAGAAGCAGAGCCATCCACTCCTCCGGTGAGCTGATCCTGCCGGGGCCTCAAACCTGGCTCCCAGGGCTAGCACTGGCCTCAAAACAATCCCAGCAGTCACCACCAATAGTGACATCAGCCCCATCTGTTTGACAGCATTAACATGAATCTTGTGTCAGCCTCGTTTTTGACAATGTTAACATTAAGTCATTATGTGACAATAATATAATTAACTCCAACTTTGACAGTAATATTAACATTAATGCCAGGGTGTGTCCACAATATTAATGTCATTCCCACATGTTCAGTACTATTAACATCAGCTGGCCGGCGCGGTGGCTCATGCCTGTAATCCAGGAACTTTGGGAGGCTAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATATAGTGAGACCTCGTTTCCATAAAAACTAAATTCAAAAAAAGTAGTCAAGCATAGTGGTGTGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGACCCTGGGAGGTCAAGGCAGCAGTGATCCATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGATCCTATCTCAAAAAAAAAAAAAATTAACCCATTATGTGATGACAATATTATGAAGAACACTATTGTTGACAATATTAATTTTAATTCCATGTATTAACAGATTTACATTAATTCATTATGACGTAACCTAATCTAATCTTTTAAAAAATTTTTTTGAAACAGGGTCTCGCTCTGTGTCCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCAGTGCAGCCTCAACCTCCCAGGCTCAAGCGATCCTCCCGCCTCAGCTCCCAAAGTAGCTGGGACTACAGGCGTGTGCCACCATACCTGGCTAATTTTTGGTGTTTTTTTGGTAGTGATGAGCTCTCACTACCAAGCTCTCACTACTCTCATGTTGCCCAGGCTGCTCTGCAACTCCAGGGCTCAAGCGATCTGCCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCAGGCCTGGCTGTTAACCTAATCTTTTTATAATAATGTTACTATTACTCTCTTAATCTGTCAGCAATACTGTCACTAATCCATTATATGATGCAAATATTAGTATCAACCTACTATAGGAACTTCATCTTTCGACAATGATTTTTTTTTTCTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTAACTGCAGACTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACGCCACTACGCCCAGCTAATTTTGATGTTATTGTCATTAACCCCATTATGTGTCAAAAATATTAGCGTTAACCAGACAGGAAGCAATAATATATTATCACACCTTTGC
|
TTGGTTGGTAAGTGGGTCAATGAGCCAACCACCCTATTTTCCCCACAGGCCCTCCAGTGGGTCCGCTCTCCCTGGGGCTGGCGACAGTGGACATCCAGAACCCTGACATCACGAGTTCACGATACCGTGGGCTCCCAGCACCTGGACCTAGCCCAGCTGATAAGAAACGCTCAGGGAAGAAGAAGATCAGCAAAGCTGATATTGGTGCACCCAGTGGATTCAAGTGAGAGCCACTCCCCAGTGGACCCACAGATTCCTGGGGGCAGAGGGGCACATGAACAAGTGGACAGCTGAGTGAATGGAAGGATGGGCAGATGGGCAGATGGCTGGGTGGCTGAGTGGGTAAATGGGTGGTTGGATAGGTAGGTGCAGGGCTGGGTCTAGGGAGAGGTAAATAAGGCACCAAGGGTACAAAATTTAAGGAGGCACTCACTCTCAGAGGCATGCAACTGTAATTCCTGACTCTCAGAGTGAGTGACTCACTTAAATTTTGCACCCTAGGCACCTTACTTGCCTCACCCTGGGCCCACTCTGGGTGGGCTGTTAGGAGAGCAGGTGGGTGGGCAGGTGAACAAATGGATAGATAGATGAGGTAGATGATGGATGAGAAGGGCTGGTGGGTAGGTGGGTGAGTGGATGGGTGGATGGATGGATAAATGAATGGATGAATGAATGGGTTGAAGAATGAATGGATAAGTGGTTGGATGGACAAGTTTATGGGTGGATGGGTTGATGGGAGGTGCGTGGATAGATAGATGGGTGAGTGGATAGGTGTGTGGACAGATTGATATGCAGGCTGATTGGCTCACAGACAAGGTGGATGGGGATGGACAGGTGGACAGATACGTGGATGAATGGACAGTTCAATGGATAAGTGAACAGAAGTGTGTGGTTGCATGGGTAGAAAAATGAGTGGATGGATAGATGGAAAGGTGGGCACATGGGTAGGTGGATGGGTGGATGGACAAGTGTGTGTGAGGACAGACTGGTGGACAAATGGGTGAACAGACATATGTGGGCAGATAGTTGCAGAGACAGATGTATGGACAGATCAGTAGTCCAACAGATGAATGTGAATGAATAGGTGGACAAATGCATGGGATAGATGGGGAAAGAGGGATGGGTGGATGGATCAGCACCACAAACTATGGAGCCCTTCTAATTCCATAACTCCTGCCTATACTCATTCACTCATTCAGTCTCATTCATTAATTCTGGCCCCTCAGAGTCTCTTTGGGCAGGAGAGGGCAAGAGGGTTTCACTATGAAGGGAGGGAAGGAAGGGCAGTGAGGATTCACTGGAGTCTCTTCACCTCTCCCAGGCATGTCAGCCACGTGGGGTGGGACCCCCAGAATGGATTTGACGTGAGTAACTTCAGAGTCTCTTGGACTCCACTAAACTTCCACCCACCCTTCCAAAGACCACTGCTGAGACCCCACCCCCAGATCGTGCCCTTCCCACACCCCTCTCAGATCCCTTGCTGGGATGGACCCAACGACAATCCATGTCGCTTGTCTCCTCGCCTTATTCCTCTACTCCTGCCCCTGGCCTTTTTCCTCCTGGGCAGGTGAACAACCTCGACCCAGATCTGCGGAGTCTGTTCTCCAGGGCAGGAATCAGCGAGGCCCAGCTCACCGACGCCGAGACCTCTAAACTTATCTACGACTTCATTGAGGACCAGGGTGGGCTGGAGGCTGTGCGGCAGGAGATGAGGCGCCAGGGTGAGACCCTGCTTCCATACGCTCCCTTCTCTAGCCCAAGCAGCTCATAGCTAAGATACGCACTAAGTCACTCAGTCCTTATGGGAGCACCTATACTGCTTCAGTCAGGAGTTGGTCAGTGGGGGTACCCATTTTACAAATGAGCAAAACTGAGGCTCAGAAGAAATCAATGAGAGTTACAGCTATGTGTTATACCCCCTCCACAGAGCCACTTCCGCCGCCCCCACCGCCATCTCGAGGAGGGAACCAGCTCCCCCGGCCCCCTATTGTGGGGGGTAACAAGGGTCGTTCTGGTCCACTGCCCCCTGTACCTTTGGGGATTGCCCCACCCCACCAACACCCCGGGGACCCCCACCCCCAGGCCGAGGGGGCCCTCCACCACCACCCCCTCCAGCTACTGGACGTTCTGGACCACTGCCCCCTCCACCCCCTGGAGCTGGTGGGCCACCCATGCCACCACCACCGCCACCACCGCCACCGCCGCCCAGCTCCGGGAATGGACCAGCCCCTCCCCCACTCCCTCCTGCTCTGGTGCCTGCCGGGGGCCTGGCCCCTGGTGGGGGTCGGGGAGCGCTTTTGGATCAAATCCGGCAGGGAATTCAGCTGAACAAGGTGAGGACAGGCAGGATGGAGGATTGGGGGTCTAGGACTCTGGGGTGTCCCGTCTAAGTCAGGATACTGGGGGGCTGAGGCCAGGACTGAGGAGAGTGCCAGGCCTTAGGGATTCAGTGATAGGGTTGAAAGGTTGGTGGGAAGCCTTGAAGGGGACTGGAGTGTGTGGGAGAGAAAATATTGATGGAGGGGCGGGGAGAAATGCTCCTTTCCCAGGCCCTAAGCCCTCTGTGCTGATCCCTGCCTGCTGCAGACCCCTGGGGCCCCAGAGAGCTCAGCGCTGCAGCCACCACCTCAGAGCTCAGAGGGACTGGTGGGGGCCCTGATGCACGTGATGCAGAAGAGAAGCAGAGCCATCCACTCCTCCGGTGAGCTGATCCTGCCGGGGCCTCAAACCTGGCTCCCAGGGCTAGCACTGGCCTCAAAACAATCCCAGCAGTCACCACCAATAGTGACATCAGCCCCATCTGTTTGACAGCATTAACATGAATCTTGTGTCAGCCTCGTTTTTGACAATGTTAACATTAAGTCATTATGTGACAATAATATAATTAACTCCAACTTTGACAGTAATATTAACATTAATGCCAGGGTGTGTCCACAATATTAATGTCATTCCCACATGTTCAGTACTATTAACATCAGCTGGCCGGCGCGGTGGCTCATGCCTGTAATCCAGGAACTTTGGGAGGCTAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATATAGTGAGACCTCGTTTCCATAAAAACTAAATTCAAAAAAAGTAGTCAAGCATAGTGGTGTGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGACCCTGGGAGGTCAAGGCAGCAGTGATCCATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGATCCTATCTCAAAAAAAAAAAAAATTAACCCATTATGTGATGACAATATTATGAAGAACACTATTGTTGACAATATTAATTTTAATTCCATGTATTAACAGATTTACATTAATTCATTATGACGTAACCTAATCTAATCTTTTAAAAAATTTTTTTGAAACAGGGTCTCGCTCTGTGTCCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCAGTGCAGCCTCAACCTCCCAGGCTCAAGCGATCCTCCCGCCTCAGCTCCCAAAGTAGCTGGGACTACAGGCGTGTGCCACCATACCTGGCTAATTTTTGGTGTTTTTTTGGTAGTGATGAGCTCTCACTACCAAGCTCTCACTACTCTCATGTTGCCCAGGCTGCTCTGCAACTCCAGGGCTCAAGCGATCTGCCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCAGGCCTGGCTGTTAACCTAATCTTTTTATAATAATGTTACTATTACTCTCTTAATCTGTCAGCAATACTGTCACTAATCCATTATATGATGCAAATATTAGTATCAACCTACTATAGGAACTTCATCTTTCGACAATGATTTTTTTTTTCTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTAACTGCAGACTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACGCCACTACGCCCAGCTAATTTTGATGTTATTGTCATTAACCCCATTATGTGTCAAAAATATTAGCGTTAACCAGACAGGAAGCAATAATATATTATCACACCTTTGCN
|
pathogenic
| 333,996 |
Gene WAS (WASP actin nucleation promoting factor) variant at chromosome X, position 48688880—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Thrombocytopenia_1', 'Wiskott-Aldrich_syndrome', 'X-linked_severe_congenital_neutropenia']
|
ACCCTGACATCACGAGTTCACGATACCGTGGGCTCCCAGCACCTGGACCTAGCCCAGCTGATAAGAAACGCTCAGGGAAGAAGAAGATCAGCAAAGCTGATATTGGTGCACCCAGTGGATTCAAGTGAGAGCCACTCCCCAGTGGACCCACAGATTCCTGGGGGCAGAGGGGCACATGAACAAGTGGACAGCTGAGTGAATGGAAGGATGGGCAGATGGGCAGATGGCTGGGTGGCTGAGTGGGTAAATGGGTGGTTGGATAGGTAGGTGCAGGGCTGGGTCTAGGGAGAGGTAAATAAGGCACCAAGGGTACAAAATTTAAGGAGGCACTCACTCTCAGAGGCATGCAACTGTAATTCCTGACTCTCAGAGTGAGTGACTCACTTAAATTTTGCACCCTAGGCACCTTACTTGCCTCACCCTGGGCCCACTCTGGGTGGGCTGTTAGGAGAGCAGGTGGGTGGGCAGGTGAACAAATGGATAGATAGATGAGGTAGATGATGGATGAGAAGGGCTGGTGGGTAGGTGGGTGAGTGGATGGGTGGATGGATGGATAAATGAATGGATGAATGAATGGGTTGAAGAATGAATGGATAAGTGGTTGGATGGACAAGTTTATGGGTGGATGGGTTGATGGGAGGTGCGTGGATAGATAGATGGGTGAGTGGATAGGTGTGTGGACAGATTGATATGCAGGCTGATTGGCTCACAGACAAGGTGGATGGGGATGGACAGGTGGACAGATACGTGGATGAATGGACAGTTCAATGGATAAGTGAACAGAAGTGTGTGGTTGCATGGGTAGAAAAATGAGTGGATGGATAGATGGAAAGGTGGGCACATGGGTAGGTGGATGGGTGGATGGACAAGTGTGTGTGAGGACAGACTGGTGGACAAATGGGTGAACAGACATATGTGGGCAGATAGTTGCAGAGACAGATGTATGGACAGATCAGTAGTCCAACAGATGAATGTGAATGAATAGGTGGACAAATGCATGGGATAGATGGGGAAAGAGGGATGGGTGGATGGATCAGCACCACAAACTATGGAGCCCTTCTAATTCCATAACTCCTGCCTATACTCATTCACTCATTCAGTCTCATTCATTAATTCTGGCCCCTCAGAGTCTCTTTGGGCAGGAGAGGGCAAGAGGGTTTCACTATGAAGGGAGGGAAGGAAGGGCAGTGAGGATTCACTGGAGTCTCTTCACCTCTCCCAGGCATGTCAGCCACGTGGGGTGGGACCCCCAGAATGGATTTGACGTGAGTAACTTCAGAGTCTCTTGGACTCCACTAAACTTCCACCCACCCTTCCAAAGACCACTGCTGAGACCCCACCCCCAGATCGTGCCCTTCCCACACCCCTCTCAGATCCCTTGCTGGGATGGACCCAACGACAATCCATGTCGCTTGTCTCCTCGCCTTATTCCTCTACTCCTGCCCCTGGCCTTTTTCCTCCTGGGCAGGTGAACAACCTCGACCCAGATCTGCGGAGTCTGTTCTCCAGGGCAGGAATCAGCGAGGCCCAGCTCACCGACGCCGAGACCTCTAAACTTATCTACGACTTCATTGAGGACCAGGGTGGGCTGGAGGCTGTGCGGCAGGAGATGAGGCGCCAGGGTGAGACCCTGCTTCCATACGCTCCCTTCTCTAGCCCAAGCAGCTCATAGCTAAGATACGCACTAAGTCACTCAGTCCTTATGGGAGCACCTATACTGCTTCAGTCAGGAGTTGGTCAGTGGGGGTACCCATTTTACAAATGAGCAAAACTGAGGCTCAGAAGAAATCAATGAGAGTTACAGCTATGTGTTATACCCCCTCCACAGAGCCACTTCCGCCGCCCCCACCGCCATCTCGAGGAGGGAACCAGCTCCCCCGGCCCCCTATTGTGGGGGGTAACAAGGGTCGTTCTGGTCCACTGCCCCCTGTACCTTTGGGGATTGCCCCACCCCCACCAACACCCCGGGGACCCCCACCCCCAGGCCGAGGGGGCCCTCCACCACCACCCCCTCCAGCTACTGGACGTTCTGGACCACTGCCCCCTCCACCCCCTGGAGCTGGTGGGCCACCCATGCCACCACCACCGCCACCACCGCCACCGCCGCCCAGCTCCGGGAATGGACCAGCCCCTCCCCCACTCCCTCCTGCTCTGGTGCCTGCCGGGGGCCTGGCCCCTGGTGGGGGTCGGGGAGCGCTTTTGGATCAAATCCGGCAGGGAATTCAGCTGAACAAGGTGAGGACAGGCAGGATGGAGGATTGGGGGTCTAGGACTCTGGGGTGTCCCGTCTAAGTCAGGATACTGGGGGGCTGAGGCCAGGACTGAGGAGAGTGCCAGGCCTTAGGGATTCAGTGATAGGGTTGAAAGGTTGGTGGGAAGCCTTGAAGGGGACTGGAGTGTGTGGGAGAGAAAATATTGATGGAGGGGCGGGGAGAAATGCTCCTTTCCCAGGCCCTAAGCCCTCTGTGCTGATCCCTGCCTGCTGCAGACCCCTGGGGCCCCAGAGAGCTCAGCGCTGCAGCCACCACCTCAGAGCTCAGAGGGACTGGTGGGGGCCCTGATGCACGTGATGCAGAAGAGAAGCAGAGCCATCCACTCCTCCGGTGAGCTGATCCTGCCGGGGCCTCAAACCTGGCTCCCAGGGCTAGCACTGGCCTCAAAACAATCCCAGCAGTCACCACCAATAGTGACATCAGCCCCATCTGTTTGACAGCATTAACATGAATCTTGTGTCAGCCTCGTTTTTGACAATGTTAACATTAAGTCATTATGTGACAATAATATAATTAACTCCAACTTTGACAGTAATATTAACATTAATGCCAGGGTGTGTCCACAATATTAATGTCATTCCCACATGTTCAGTACTATTAACATCAGCTGGCCGGCGCGGTGGCTCATGCCTGTAATCCAGGAACTTTGGGAGGCTAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATATAGTGAGACCTCGTTTCCATAAAAACTAAATTCAAAAAAAGTAGTCAAGCATAGTGGTGTGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGACCCTGGGAGGTCAAGGCAGCAGTGATCCATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGATCCTATCTCAAAAAAAAAAAAAATTAACCCATTATGTGATGACAATATTATGAAGAACACTATTGTTGACAATATTAATTTTAATTCCATGTATTAACAGATTTACATTAATTCATTATGACGTAACCTAATCTAATCTTTTAAAAAATTTTTTTGAAACAGGGTCTCGCTCTGTGTCCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCAGTGCAGCCTCAACCTCCCAGGCTCAAGCGATCCTCCCGCCTCAGCTCCCAAAGTAGCTGGGACTACAGGCGTGTGCCACCATACCTGGCTAATTTTTGGTGTTTTTTTGGTAGTGATGAGCTCTCACTACCAAGCTCTCACTACTCTCATGTTGCCCAGGCTGCTCTGCAACTCCAGGGCTCAAGCGATCTGCCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCAGGCCTGGCTGTTAACCTAATCTTTTTATAATAATGTTACTATTACTCTCTTAATCTGTCAGCAATACTGTCACTAATCCATTATATGATGCAAATATTAGTATCAACCTACTATAGGAACTTCATCTTTCGACAATGATTTTTTTTTTCTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTAACTGCAGACTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACGCCACTACGCCCAGCTAATTTTGATGTTATTGTCATTAACCCCATTATGTGTCAAAAATATTAGCGTTAACCAGACAGGAAGCAATAATATATTATCACACCTTTGCTAATATTATTTAAATTCACCCTATTATGTGATAAATAGGTTAACATTAACCCTTTGTTTGACAATATCTCGACTAACCACATTTTTGACAGCATAAACT
|
ACCCTGACATCACGAGTTCACGATACCGTGGGCTCCCAGCACCTGGACCTAGCCCAGCTGATAAGAAACGCTCAGGGAAGAAGAAGATCAGCAAAGCTGATATTGGTGCACCCAGTGGATTCAAGTGAGAGCCACTCCCCAGTGGACCCACAGATTCCTGGGGGCAGAGGGGCACATGAACAAGTGGACAGCTGAGTGAATGGAAGGATGGGCAGATGGGCAGATGGCTGGGTGGCTGAGTGGGTAAATGGGTGGTTGGATAGGTAGGTGCAGGGCTGGGTCTAGGGAGAGGTAAATAAGGCACCAAGGGTACAAAATTTAAGGAGGCACTCACTCTCAGAGGCATGCAACTGTAATTCCTGACTCTCAGAGTGAGTGACTCACTTAAATTTTGCACCCTAGGCACCTTACTTGCCTCACCCTGGGCCCACTCTGGGTGGGCTGTTAGGAGAGCAGGTGGGTGGGCAGGTGAACAAATGGATAGATAGATGAGGTAGATGATGGATGAGAAGGGCTGGTGGGTAGGTGGGTGAGTGGATGGGTGGATGGATGGATAAATGAATGGATGAATGAATGGGTTGAAGAATGAATGGATAAGTGGTTGGATGGACAAGTTTATGGGTGGATGGGTTGATGGGAGGTGCGTGGATAGATAGATGGGTGAGTGGATAGGTGTGTGGACAGATTGATATGCAGGCTGATTGGCTCACAGACAAGGTGGATGGGGATGGACAGGTGGACAGATACGTGGATGAATGGACAGTTCAATGGATAAGTGAACAGAAGTGTGTGGTTGCATGGGTAGAAAAATGAGTGGATGGATAGATGGAAAGGTGGGCACATGGGTAGGTGGATGGGTGGATGGACAAGTGTGTGTGAGGACAGACTGGTGGACAAATGGGTGAACAGACATATGTGGGCAGATAGTTGCAGAGACAGATGTATGGACAGATCAGTAGTCCAACAGATGAATGTGAATGAATAGGTGGACAAATGCATGGGATAGATGGGGAAAGAGGGATGGGTGGATGGATCAGCACCACAAACTATGGAGCCCTTCTAATTCCATAACTCCTGCCTATACTCATTCACTCATTCAGTCTCATTCATTAATTCTGGCCCCTCAGAGTCTCTTTGGGCAGGAGAGGGCAAGAGGGTTTCACTATGAAGGGAGGGAAGGAAGGGCAGTGAGGATTCACTGGAGTCTCTTCACCTCTCCCAGGCATGTCAGCCACGTGGGGTGGGACCCCCAGAATGGATTTGACGTGAGTAACTTCAGAGTCTCTTGGACTCCACTAAACTTCCACCCACCCTTCCAAAGACCACTGCTGAGACCCCACCCCCAGATCGTGCCCTTCCCACACCCCTCTCAGATCCCTTGCTGGGATGGACCCAACGACAATCCATGTCGCTTGTCTCCTCGCCTTATTCCTCTACTCCTGCCCCTGGCCTTTTTCCTCCTGGGCAGGTGAACAACCTCGACCCAGATCTGCGGAGTCTGTTCTCCAGGGCAGGAATCAGCGAGGCCCAGCTCACCGACGCCGAGACCTCTAAACTTATCTACGACTTCATTGAGGACCAGGGTGGGCTGGAGGCTGTGCGGCAGGAGATGAGGCGCCAGGGTGAGACCCTGCTTCCATACGCTCCCTTCTCTAGCCCAAGCAGCTCATAGCTAAGATACGCACTAAGTCACTCAGTCCTTATGGGAGCACCTATACTGCTTCAGTCAGGAGTTGGTCAGTGGGGGTACCCATTTTACAAATGAGCAAAACTGAGGCTCAGAAGAAATCAATGAGAGTTACAGCTATGTGTTATACCCCCTCCACAGAGCCACTTCCGCCGCCCCCACCGCCATCTCGAGGAGGGAACCAGCTCCCCCGGCCCCCTATTGTGGGGGGTAACAAGGGTCGTTCTGGTCCACTGCCCCCTGTACCTTTGGGGATTGCCCCACCCCCACCAACACCCCGGGGACCCCCACCCCCAGGCCGAGGGGGCCCTCCACCACCACCCCCTCCAGCTACTGGACGTTCTGGACCACTGCCCCCTCCACCCCTGGAGCTGGTGGGCCACCCATGCCACCACCACCGCCACCACCGCCACCGCCGCCCAGCTCCGGGAATGGACCAGCCCCTCCCCCACTCCCTCCTGCTCTGGTGCCTGCCGGGGGCCTGGCCCCTGGTGGGGGTCGGGGAGCGCTTTTGGATCAAATCCGGCAGGGAATTCAGCTGAACAAGGTGAGGACAGGCAGGATGGAGGATTGGGGGTCTAGGACTCTGGGGTGTCCCGTCTAAGTCAGGATACTGGGGGGCTGAGGCCAGGACTGAGGAGAGTGCCAGGCCTTAGGGATTCAGTGATAGGGTTGAAAGGTTGGTGGGAAGCCTTGAAGGGGACTGGAGTGTGTGGGAGAGAAAATATTGATGGAGGGGCGGGGAGAAATGCTCCTTTCCCAGGCCCTAAGCCCTCTGTGCTGATCCCTGCCTGCTGCAGACCCCTGGGGCCCCAGAGAGCTCAGCGCTGCAGCCACCACCTCAGAGCTCAGAGGGACTGGTGGGGGCCCTGATGCACGTGATGCAGAAGAGAAGCAGAGCCATCCACTCCTCCGGTGAGCTGATCCTGCCGGGGCCTCAAACCTGGCTCCCAGGGCTAGCACTGGCCTCAAAACAATCCCAGCAGTCACCACCAATAGTGACATCAGCCCCATCTGTTTGACAGCATTAACATGAATCTTGTGTCAGCCTCGTTTTTGACAATGTTAACATTAAGTCATTATGTGACAATAATATAATTAACTCCAACTTTGACAGTAATATTAACATTAATGCCAGGGTGTGTCCACAATATTAATGTCATTCCCACATGTTCAGTACTATTAACATCAGCTGGCCGGCGCGGTGGCTCATGCCTGTAATCCAGGAACTTTGGGAGGCTAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATATAGTGAGACCTCGTTTCCATAAAAACTAAATTCAAAAAAAGTAGTCAAGCATAGTGGTGTGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGACCCTGGGAGGTCAAGGCAGCAGTGATCCATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGATCCTATCTCAAAAAAAAAAAAAATTAACCCATTATGTGATGACAATATTATGAAGAACACTATTGTTGACAATATTAATTTTAATTCCATGTATTAACAGATTTACATTAATTCATTATGACGTAACCTAATCTAATCTTTTAAAAAATTTTTTTGAAACAGGGTCTCGCTCTGTGTCCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCAGTGCAGCCTCAACCTCCCAGGCTCAAGCGATCCTCCCGCCTCAGCTCCCAAAGTAGCTGGGACTACAGGCGTGTGCCACCATACCTGGCTAATTTTTGGTGTTTTTTTGGTAGTGATGAGCTCTCACTACCAAGCTCTCACTACTCTCATGTTGCCCAGGCTGCTCTGCAACTCCAGGGCTCAAGCGATCTGCCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCAGGCCTGGCTGTTAACCTAATCTTTTTATAATAATGTTACTATTACTCTCTTAATCTGTCAGCAATACTGTCACTAATCCATTATATGATGCAAATATTAGTATCAACCTACTATAGGAACTTCATCTTTCGACAATGATTTTTTTTTTCTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTAACTGCAGACTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACGCCACTACGCCCAGCTAATTTTGATGTTATTGTCATTAACCCCATTATGTGTCAAAAATATTAGCGTTAACCAGACAGGAAGCAATAATATATTATCACACCTTTGCTAATATTATTTAAATTCACCCTATTATGTGATAAATAGGTTAACATTAACCCTTTGTTTGACAATATCTCGACTAACCACATTTTTGACAGCATAAACTN
|
pathogenic
| 334,005 |
Classify the chromosome X variant at position 48688994 affecting gene WAS (WASP actin nucleation promoting factor) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['Thrombocytopenia_1', 'Wiskott-Aldrich_syndrome', 'X-linked_severe_congenital_neutropenia']
|
GTGGATTCAAGTGAGAGCCACTCCCCAGTGGACCCACAGATTCCTGGGGGCAGAGGGGCACATGAACAAGTGGACAGCTGAGTGAATGGAAGGATGGGCAGATGGGCAGATGGCTGGGTGGCTGAGTGGGTAAATGGGTGGTTGGATAGGTAGGTGCAGGGCTGGGTCTAGGGAGAGGTAAATAAGGCACCAAGGGTACAAAATTTAAGGAGGCACTCACTCTCAGAGGCATGCAACTGTAATTCCTGACTCTCAGAGTGAGTGACTCACTTAAATTTTGCACCCTAGGCACCTTACTTGCCTCACCCTGGGCCCACTCTGGGTGGGCTGTTAGGAGAGCAGGTGGGTGGGCAGGTGAACAAATGGATAGATAGATGAGGTAGATGATGGATGAGAAGGGCTGGTGGGTAGGTGGGTGAGTGGATGGGTGGATGGATGGATAAATGAATGGATGAATGAATGGGTTGAAGAATGAATGGATAAGTGGTTGGATGGACAAGTTTATGGGTGGATGGGTTGATGGGAGGTGCGTGGATAGATAGATGGGTGAGTGGATAGGTGTGTGGACAGATTGATATGCAGGCTGATTGGCTCACAGACAAGGTGGATGGGGATGGACAGGTGGACAGATACGTGGATGAATGGACAGTTCAATGGATAAGTGAACAGAAGTGTGTGGTTGCATGGGTAGAAAAATGAGTGGATGGATAGATGGAAAGGTGGGCACATGGGTAGGTGGATGGGTGGATGGACAAGTGTGTGTGAGGACAGACTGGTGGACAAATGGGTGAACAGACATATGTGGGCAGATAGTTGCAGAGACAGATGTATGGACAGATCAGTAGTCCAACAGATGAATGTGAATGAATAGGTGGACAAATGCATGGGATAGATGGGGAAAGAGGGATGGGTGGATGGATCAGCACCACAAACTATGGAGCCCTTCTAATTCCATAACTCCTGCCTATACTCATTCACTCATTCAGTCTCATTCATTAATTCTGGCCCCTCAGAGTCTCTTTGGGCAGGAGAGGGCAAGAGGGTTTCACTATGAAGGGAGGGAAGGAAGGGCAGTGAGGATTCACTGGAGTCTCTTCACCTCTCCCAGGCATGTCAGCCACGTGGGGTGGGACCCCCAGAATGGATTTGACGTGAGTAACTTCAGAGTCTCTTGGACTCCACTAAACTTCCACCCACCCTTCCAAAGACCACTGCTGAGACCCCACCCCCAGATCGTGCCCTTCCCACACCCCTCTCAGATCCCTTGCTGGGATGGACCCAACGACAATCCATGTCGCTTGTCTCCTCGCCTTATTCCTCTACTCCTGCCCCTGGCCTTTTTCCTCCTGGGCAGGTGAACAACCTCGACCCAGATCTGCGGAGTCTGTTCTCCAGGGCAGGAATCAGCGAGGCCCAGCTCACCGACGCCGAGACCTCTAAACTTATCTACGACTTCATTGAGGACCAGGGTGGGCTGGAGGCTGTGCGGCAGGAGATGAGGCGCCAGGGTGAGACCCTGCTTCCATACGCTCCCTTCTCTAGCCCAAGCAGCTCATAGCTAAGATACGCACTAAGTCACTCAGTCCTTATGGGAGCACCTATACTGCTTCAGTCAGGAGTTGGTCAGTGGGGGTACCCATTTTACAAATGAGCAAAACTGAGGCTCAGAAGAAATCAATGAGAGTTACAGCTATGTGTTATACCCCCTCCACAGAGCCACTTCCGCCGCCCCCACCGCCATCTCGAGGAGGGAACCAGCTCCCCCGGCCCCCTATTGTGGGGGGTAACAAGGGTCGTTCTGGTCCACTGCCCCCTGTACCTTTGGGGATTGCCCCACCCCCACCAACACCCCGGGGACCCCCACCCCCAGGCCGAGGGGGCCCTCCACCACCACCCCCTCCAGCTACTGGACGTTCTGGACCACTGCCCCCTCCACCCCCTGGAGCTGGTGGGCCACCCATGCCACCACCACCGCCACCACCGCCACCGCCGCCCAGCTCCGGGAATGGACCAGCCCCTCCCCCACTCCCTCCTGCTCTGGTGCCTGCCGGGGGCCTGGCCCCTGGTGGGGGTCGGGGAGCGCTTTTGGATCAAATCCGGCAGGGAATTCAGCTGAACAAGGTGAGGACAGGCAGGATGGAGGATTGGGGGTCTAGGACTCTGGGGTGTCCCGTCTAAGTCAGGATACTGGGGGGCTGAGGCCAGGACTGAGGAGAGTGCCAGGCCTTAGGGATTCAGTGATAGGGTTGAAAGGTTGGTGGGAAGCCTTGAAGGGGACTGGAGTGTGTGGGAGAGAAAATATTGATGGAGGGGCGGGGAGAAATGCTCCTTTCCCAGGCCCTAAGCCCTCTGTGCTGATCCCTGCCTGCTGCAGACCCCTGGGGCCCCAGAGAGCTCAGCGCTGCAGCCACCACCTCAGAGCTCAGAGGGACTGGTGGGGGCCCTGATGCACGTGATGCAGAAGAGAAGCAGAGCCATCCACTCCTCCGGTGAGCTGATCCTGCCGGGGCCTCAAACCTGGCTCCCAGGGCTAGCACTGGCCTCAAAACAATCCCAGCAGTCACCACCAATAGTGACATCAGCCCCATCTGTTTGACAGCATTAACATGAATCTTGTGTCAGCCTCGTTTTTGACAATGTTAACATTAAGTCATTATGTGACAATAATATAATTAACTCCAACTTTGACAGTAATATTAACATTAATGCCAGGGTGTGTCCACAATATTAATGTCATTCCCACATGTTCAGTACTATTAACATCAGCTGGCCGGCGCGGTGGCTCATGCCTGTAATCCAGGAACTTTGGGAGGCTAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATATAGTGAGACCTCGTTTCCATAAAAACTAAATTCAAAAAAAGTAGTCAAGCATAGTGGTGTGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGACCCTGGGAGGTCAAGGCAGCAGTGATCCATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGATCCTATCTCAAAAAAAAAAAAAATTAACCCATTATGTGATGACAATATTATGAAGAACACTATTGTTGACAATATTAATTTTAATTCCATGTATTAACAGATTTACATTAATTCATTATGACGTAACCTAATCTAATCTTTTAAAAAATTTTTTTGAAACAGGGTCTCGCTCTGTGTCCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCAGTGCAGCCTCAACCTCCCAGGCTCAAGCGATCCTCCCGCCTCAGCTCCCAAAGTAGCTGGGACTACAGGCGTGTGCCACCATACCTGGCTAATTTTTGGTGTTTTTTTGGTAGTGATGAGCTCTCACTACCAAGCTCTCACTACTCTCATGTTGCCCAGGCTGCTCTGCAACTCCAGGGCTCAAGCGATCTGCCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCAGGCCTGGCTGTTAACCTAATCTTTTTATAATAATGTTACTATTACTCTCTTAATCTGTCAGCAATACTGTCACTAATCCATTATATGATGCAAATATTAGTATCAACCTACTATAGGAACTTCATCTTTCGACAATGATTTTTTTTTTCTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTAACTGCAGACTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACGCCACTACGCCCAGCTAATTTTGATGTTATTGTCATTAACCCCATTATGTGTCAAAAATATTAGCGTTAACCAGACAGGAAGCAATAATATATTATCACACCTTTGCTAATATTATTTAAATTCACCCTATTATGTGATAAATAGGTTAACATTAACCCTTTGTTTGACAATATCTCGACTAACCACATTTTTGACAGCATAAACTTCAACTCCAACTAGAACTCAGACCCCAACTATAATCCCTTTCTTGTCCCAAATGGAAACTCTAACTTGCCCTCCTCTAGCATGAGACCTCAGAACCCCAGGGTCCAGTCCTCAC
|
GTGGATTCAAGTGAGAGCCACTCCCCAGTGGACCCACAGATTCCTGGGGGCAGAGGGGCACATGAACAAGTGGACAGCTGAGTGAATGGAAGGATGGGCAGATGGGCAGATGGCTGGGTGGCTGAGTGGGTAAATGGGTGGTTGGATAGGTAGGTGCAGGGCTGGGTCTAGGGAGAGGTAAATAAGGCACCAAGGGTACAAAATTTAAGGAGGCACTCACTCTCAGAGGCATGCAACTGTAATTCCTGACTCTCAGAGTGAGTGACTCACTTAAATTTTGCACCCTAGGCACCTTACTTGCCTCACCCTGGGCCCACTCTGGGTGGGCTGTTAGGAGAGCAGGTGGGTGGGCAGGTGAACAAATGGATAGATAGATGAGGTAGATGATGGATGAGAAGGGCTGGTGGGTAGGTGGGTGAGTGGATGGGTGGATGGATGGATAAATGAATGGATGAATGAATGGGTTGAAGAATGAATGGATAAGTGGTTGGATGGACAAGTTTATGGGTGGATGGGTTGATGGGAGGTGCGTGGATAGATAGATGGGTGAGTGGATAGGTGTGTGGACAGATTGATATGCAGGCTGATTGGCTCACAGACAAGGTGGATGGGGATGGACAGGTGGACAGATACGTGGATGAATGGACAGTTCAATGGATAAGTGAACAGAAGTGTGTGGTTGCATGGGTAGAAAAATGAGTGGATGGATAGATGGAAAGGTGGGCACATGGGTAGGTGGATGGGTGGATGGACAAGTGTGTGTGAGGACAGACTGGTGGACAAATGGGTGAACAGACATATGTGGGCAGATAGTTGCAGAGACAGATGTATGGACAGATCAGTAGTCCAACAGATGAATGTGAATGAATAGGTGGACAAATGCATGGGATAGATGGGGAAAGAGGGATGGGTGGATGGATCAGCACCACAAACTATGGAGCCCTTCTAATTCCATAACTCCTGCCTATACTCATTCACTCATTCAGTCTCATTCATTAATTCTGGCCCCTCAGAGTCTCTTTGGGCAGGAGAGGGCAAGAGGGTTTCACTATGAAGGGAGGGAAGGAAGGGCAGTGAGGATTCACTGGAGTCTCTTCACCTCTCCCAGGCATGTCAGCCACGTGGGGTGGGACCCCCAGAATGGATTTGACGTGAGTAACTTCAGAGTCTCTTGGACTCCACTAAACTTCCACCCACCCTTCCAAAGACCACTGCTGAGACCCCACCCCCAGATCGTGCCCTTCCCACACCCCTCTCAGATCCCTTGCTGGGATGGACCCAACGACAATCCATGTCGCTTGTCTCCTCGCCTTATTCCTCTACTCCTGCCCCTGGCCTTTTTCCTCCTGGGCAGGTGAACAACCTCGACCCAGATCTGCGGAGTCTGTTCTCCAGGGCAGGAATCAGCGAGGCCCAGCTCACCGACGCCGAGACCTCTAAACTTATCTACGACTTCATTGAGGACCAGGGTGGGCTGGAGGCTGTGCGGCAGGAGATGAGGCGCCAGGGTGAGACCCTGCTTCCATACGCTCCCTTCTCTAGCCCAAGCAGCTCATAGCTAAGATACGCACTAAGTCACTCAGTCCTTATGGGAGCACCTATACTGCTTCAGTCAGGAGTTGGTCAGTGGGGGTACCCATTTTACAAATGAGCAAAACTGAGGCTCAGAAGAAATCAATGAGAGTTACAGCTATGTGTTATACCCCCTCCACAGAGCCACTTCCGCCGCCCCCACCGCCATCTCGAGGAGGGAACCAGCTCCCCCGGCCCCCTATTGTGGGGGGTAACAAGGGTCGTTCTGGTCCACTGCCCCCTGTACCTTTGGGGATTGCCCCACCCCCACCAACACCCCGGGGACCCCCACCCCCAGGCCGAGGGGGCCCTCCACCACCACCCCCTCCAGCTACTGGACGTTCTGGACCACTGCCCCCTCCACCCCCTGGAGCTGGTGGGCCACCCATGCCACCACCACCGCCACCACCGCCACCGCCGCCCAGCTCCGGGAATGGACCAGCCCCTCCCCCACTCCCTCCTGCTCTGGTGCCTGCCGGGGGGCCTGGCCCCTGGTGGGGGTCGGGGAGCGCTTTTGGATCAAATCCGGCAGGGAATTCAGCTGAACAAGGTGAGGACAGGCAGGATGGAGGATTGGGGGTCTAGGACTCTGGGGTGTCCCGTCTAAGTCAGGATACTGGGGGGCTGAGGCCAGGACTGAGGAGAGTGCCAGGCCTTAGGGATTCAGTGATAGGGTTGAAAGGTTGGTGGGAAGCCTTGAAGGGGACTGGAGTGTGTGGGAGAGAAAATATTGATGGAGGGGCGGGGAGAAATGCTCCTTTCCCAGGCCCTAAGCCCTCTGTGCTGATCCCTGCCTGCTGCAGACCCCTGGGGCCCCAGAGAGCTCAGCGCTGCAGCCACCACCTCAGAGCTCAGAGGGACTGGTGGGGGCCCTGATGCACGTGATGCAGAAGAGAAGCAGAGCCATCCACTCCTCCGGTGAGCTGATCCTGCCGGGGCCTCAAACCTGGCTCCCAGGGCTAGCACTGGCCTCAAAACAATCCCAGCAGTCACCACCAATAGTGACATCAGCCCCATCTGTTTGACAGCATTAACATGAATCTTGTGTCAGCCTCGTTTTTGACAATGTTAACATTAAGTCATTATGTGACAATAATATAATTAACTCCAACTTTGACAGTAATATTAACATTAATGCCAGGGTGTGTCCACAATATTAATGTCATTCCCACATGTTCAGTACTATTAACATCAGCTGGCCGGCGCGGTGGCTCATGCCTGTAATCCAGGAACTTTGGGAGGCTAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATATAGTGAGACCTCGTTTCCATAAAAACTAAATTCAAAAAAAGTAGTCAAGCATAGTGGTGTGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGACCCTGGGAGGTCAAGGCAGCAGTGATCCATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGATCCTATCTCAAAAAAAAAAAAAATTAACCCATTATGTGATGACAATATTATGAAGAACACTATTGTTGACAATATTAATTTTAATTCCATGTATTAACAGATTTACATTAATTCATTATGACGTAACCTAATCTAATCTTTTAAAAAATTTTTTTGAAACAGGGTCTCGCTCTGTGTCCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCAGTGCAGCCTCAACCTCCCAGGCTCAAGCGATCCTCCCGCCTCAGCTCCCAAAGTAGCTGGGACTACAGGCGTGTGCCACCATACCTGGCTAATTTTTGGTGTTTTTTTGGTAGTGATGAGCTCTCACTACCAAGCTCTCACTACTCTCATGTTGCCCAGGCTGCTCTGCAACTCCAGGGCTCAAGCGATCTGCCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCAGGCCTGGCTGTTAACCTAATCTTTTTATAATAATGTTACTATTACTCTCTTAATCTGTCAGCAATACTGTCACTAATCCATTATATGATGCAAATATTAGTATCAACCTACTATAGGAACTTCATCTTTCGACAATGATTTTTTTTTTCTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTAACTGCAGACTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACGCCACTACGCCCAGCTAATTTTGATGTTATTGTCATTAACCCCATTATGTGTCAAAAATATTAGCGTTAACCAGACAGGAAGCAATAATATATTATCACACCTTTGCTAATATTATTTAAATTCACCCTATTATGTGATAAATAGGTTAACATTAACCCTTTGTTTGACAATATCTCGACTAACCACATTTTTGACAGCATAAACTTCAACTCCAACTAGAACTCAGACCCCAACTATAATCCCTTTCTTGTCCCAAATGGAAACTCTAACTTGCCCTCCTCTAGCATGAGACCTCAGAACCCCAGGGTCCAGTCCTCA
|
pathogenic
| 334,008 |
The genetic variant at chromosome X, position 48791851, affecting gene GATA1 (GATA binding protein 1): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Diamond-Blackfan_anemia', 'Down_syndrome', 'GATA_binding_protein_1_related_thrombocytopenia_with_dyserythropoiesis']
|
GGAGGAGGGAGTCAAGCCCGGAAACCATGGGGTTTCTGAGAAAGTTAGAGGGCAAGATACAACAGATAGGGATGAAGTTGGGGAGCAGAGGATGGTGAACCCCAAAGTCCTGGGTGAAGTGACCAAGAGGCAAGGGACTCTGGTCCTGCATGCCATCCCACCCTCACCCAGACTCTTCTAGAGGGGGAGGGAAGAAAGGACGGGGGGACGGGGAGAATAAGAGGAAGTGGAGGAGGGGAGGAGAGGAGATGGGGAAAGGGAGAAAAGGATGAACAGAAAAGGGAGGAGAAGGATGAAGAAATTGGAGGGGAGGAGAAAATGAGTAGTAGGAGAAAGGAGTGGAGAGTAGATGTAGACAGGGGAAGAGAGGCCGGAAGTGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACAGAGTCATACCCCATTTCTACAAAAAAAAAACAAAAACTAGCCAGGCCTGGTGGCACACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTGCCGGGAGGCAGTGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGGAGACCCTGCCTCAAAAAAAAGTGTGTGTGGATGGGGGAGAGGGAGATAAGGTGTGTGAGAAAGGTAGAAAAGGAGAATGAAGACAAAAAGAGAAGGAGGACAAGGAAGAGGGGAAACAGGAAAGGAGAAGGAGGAGGTCAAGGAGGAAAAGAAGAAGGTGGAGGAGAAAAAGGAAGCAGGAGAGAATGAGAAAAGAGTGGAAAGAGAAGGAAATGGGGAAGAGGGGGGCAAAGAAGAGATGGGAAGAAGAGAGACGGGAGAAAGACAGGAGGAAAAGGGAAGGGGGGAAGAAGAGAGAGAATGGAAGGAAGAAGGGAGAGGTAGAAGCAGATGAGAGTGGAGGAAGAGCGAGAGGAGGGAGGAGAGGAAAGACAAACGGCAAGAGGGGGAGAACGAGGAGGAAGATGAAAGGAGGGGCACACAGGAGTGGAACGGGGAGATGCAGGAGGGAAAAGAGAGGAGAGGGAGGAAGAGAAGGAGGGGAAGGAGAGGGGAGACTAAGGTGAGGAGGAGGGGGGAATGGGGAGGTGGGAAGGAGAAATATGGAGACTGAGGTGATGGAGTGGGAGGAGGGGGAAAGGAGGGAAGAGGAGCAGGTGAAAGGAGGTGGGGGGGAAGGATTTCTGTGTCTGAGGACCCCTTCTGTCCTCGCAGGTTAATCCCCAGAGGCTCCATGGAGTTCCCTGGCCTGGGGTCCCTGGGGACCTCAGAGCCCCTCCCCCAGTTTGTGGATCCTGCTCTGGTGTCCTCCACACCAGAATCAGGGGTTTTCTTCCCCTCTGGGCCTGAGGGCTTGGATGCAGCAGCTTCCTCCACTGCCCCGAGCACAGCCACCGCTGCAGCTGCGGCACTGGCCTACTACAGGGACGCTGAGGCCTACAGACACTCCCCAGGTAACTCCATTGAGTGGCTGTCTTGGCATTGGCTGAGTGCTGTTGGGGTTGCCATGGAGATCCTTGGCTAGGTCAGAATACCACTGTGAGGATATCTCAGAAATGGCTGGAAGCTTCTCAAATGGATGTGCCGACCACTTTCCCTAGTTAAGTGCAGACCTGGGAATTCCAATGCTCCTCAACCTGCCATATTGGGGCGGCCACACTGAGAGGCAATACTGGAAGTATGTGGTGGTTGCCCTAGTTGTCGAGTGATCCGTGGAGCTCCAAATCCCAACAGTCATCCTCAAAAACCCACTTGGAAATGGTCAGAGGTTATTGCAGAGGCCACACTGACCAGTGGGGGTCAGGATCCAGGAAGCATCCAATGGCCAGCAGCTGTTCTGGTAGCCTGTGGAAAAGCTGGGAACTTGGCCACCATGTTGGGGGTGCTGGGAACCACTGCACCCTGACGTGCGCTGACCCTAGACTGATTTTGCCTCTTCTTTCCTCCATCCCTACCTGCCCCCAACAGTCTTTCAGGTGTACCCATTGCTCAACTGTATGGAGGGGATCCCAGGGGGCTCACCATATGCCGGCTGGGCCTACGGCAAGACGGGGCTCTACCCTGCCTCAACTGTGTGTCCCACCCGCGAGGACTCTCCTCCCCAGGCCGTGGAAGATCTGGATGGAAAAGGCAGCACCAGCTTCCTGGAGACTTTGAAGACAGAGCGGCTGAGCCCAGACCTCCTGACCCTGGGACCTGCACTGCCTTCATCACTCCCTGTCCCCAATAGTGCTTATGGGGGCCCTGACTTTTCCAGTACCTTCTTTTCTCCCACCGGGAGCCCCCTCAATTCAGCAGCCTATTCCTCTCCCAAGCTTCGTGGAACTCTCCCCCTGCCTCCCTGTGGTGAGAAATTCAAAAAAGGACAGGGAAGTTGAGGTGGGAGGGGTGGCCCAAAGTAAAGCTGAGCTGAGCCTAGCTCCCTCTTCTCCTCTCCACCCCACCAGAGGCCAGGGAGTGTGTGAACTGCGGAGCAACAGCCACTCCACTGTGGCGGAGGGACAGGACAGGCCACTACCTATGCAACGCCTGCGGCCTCTATCACAAGATGAATGGGCAGAACAGGCCCCTCATCCGGCCCAAGAAGCGCCTGGTAAGACCACAGACCTGCTTCACCTTATACACAGGAACCCCTGTCCTCACCCTGTACAAGAAGCCACATCTTCCCATTATATAGGAACGCTGTTCTCATGATTACAGGAAGCTACTGCAGGCCACCCTGTATGGGAACCCCTGTCCCAATATCACATGGAAACCCTTGCCTTCATCCTACACAGGAAAATCTCCTCATCCCATATGGAAATCCTTGCCCTCACCCTGCATGAGAACTCCTGCCCTTTCCTTGTACAGGAACCCAGATCTATAGAAGCTCCTATCCTCAACCTACCCTTATAAGCTTCAAACAGAAACCTTTGTCCTCACCCTGCACACCAGTGTTTTCGTCCTTGGCTTCACACTGGAATCACCCCAGGTCCCTTCTCCCAGATGTGCTGATGGAATTGGACTGGGATGCTGCTTGGGCATCAGGATATTTTAGCTCCCCAAGTGATTCCGATACGCAGCCAAAGCTGAGAACCACCAATGTAGTCCCCCATAGAATACAGAACAAAAGAAACTTATACCAGATAGGAACCCCTGTACTGGCCCCATACAGAATCCTCAGGCATCACCCTGTAAACAAAGCCCTGCCTTCAACCTGACCCTCACTTCTTGGGTCCTCCTGACATCCCCTGTGAGCCCCTTACCCCCACTTCCACATCCCCAGGGCACTGATCTCACATCCTGTCGTCCCCTAGATTGTCAGTAAACGGGCAGGTACTCAGTGCACCAACTGCCAGACGACCACCACGACACTGTGGCGGAGAAATGCCAGTGGGGATCCCGTGTGCAATGCCTGCGGCCTCTACTACAAGCTACACCAGGTGACGCCCTGCCCCTTGGAGCCACCCCTCTGCTTTCCCTGTCTTCATGCCACACTGCCCCCCACTCTGTTCCTGTTCTACCTCTCTCTTCCCCCACAACCCTCTTTCCTCTTTCCCCTTTCCCTCCTTCCTCCCCCTTCCCCCATCTCTTCTACTTTCCCCCTTCCTCCATCTCTTCTACTTTCCCCCTTCTCTGTTATTACCCTCCCTCCTTCCTTCTCCATTCCCTCCTCCTCCGCCCTCCTCCTTCCTCTCCTCTCCCCCACCTCCAGGCATCAGCTAATGTCCAACCCCCTGCCCTAGACCTTGGGCAGCTCCTATCAGCCTTGGAGGCTTTCCTAAGCTCAGGGCCTCACAGCCTCAGGATTCCTTGGACAATCTCAGCACCCAAAAATTATCTTACCCTGAAAGAAGTGGGGTAGAGAGGGTGTCCCTGGTTGACACAGAGAGGCAAAGGTCTGGAGTTGGGGACACCCGCAGCCTCCTTTTTGGCAGGTGAACCGGCCACTGACCATGCGGAAGGATGGTATTCAGACTCGAAACCGCAAGGCATCTGGAAAAGGGAAAAAGAAACGGGGCTCCAGTCTGGGAGGCACAGGAG
|
GGAGGAGGGAGTCAAGCCCGGAAACCATGGGGTTTCTGAGAAAGTTAGAGGGCAAGATACAACAGATAGGGATGAAGTTGGGGAGCAGAGGATGGTGAACCCCAAAGTCCTGGGTGAAGTGACCAAGAGGCAAGGGACTCTGGTCCTGCATGCCATCCCACCCTCACCCAGACTCTTCTAGAGGGGGAGGGAAGAAAGGACGGGGGGACGGGGAGAATAAGAGGAAGTGGAGGAGGGGAGGAGAGGAGATGGGGAAAGGGAGAAAAGGATGAACAGAAAAGGGAGGAGAAGGATGAAGAAATTGGAGGGGAGGAGAAAATGAGTAGTAGGAGAAAGGAGTGGAGAGTAGATGTAGACAGGGGAAGAGAGGCCGGAAGTGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACAGAGTCATACCCCATTTCTACAAAAAAAAAACAAAAACTAGCCAGGCCTGGTGGCACACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTGCCGGGAGGCAGTGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGGAGACCCTGCCTCAAAAAAAAGTGTGTGTGGATGGGGGAGAGGGAGATAAGGTGTGTGAGAAAGGTAGAAAAGGAGAATGAAGACAAAAAGAGAAGGAGGACAAGGAAGAGGGGAAACAGGAAAGGAGAAGGAGGAGGTCAAGGAGGAAAAGAAGAAGGTGGAGGAGAAAAAGGAAGCAGGAGAGAATGAGAAAAGAGTGGAAAGAGAAGGAAATGGGGAAGAGGGGGGCAAAGAAGAGATGGGAAGAAGAGAGACGGGAGAAAGACAGGAGGAAAAGGGAAGGGGGGAAGAAGAGAGAGAATGGAAGGAAGAAGGGAGAGGTAGAAGCAGATGAGAGTGGAGGAAGAGCGAGAGGAGGGAGGAGAGGAAAGACAAACGGCAAGAGGGGGAGAACGAGGAGGAAGATGAAAGGAGGGGCACACAGGAGTGGAACGGGGAGATGCAGGAGGGAAAAGAGAGGAGAGGGAGGAAGAGAAGGAGGGGAAGGAGAGGGGAGACTAAGGTGAGGAGGAGGGGGGAATGGGGAGGTGGGAAGGAGAAATATGGAGACTGAGGTGATGGAGTGGGAGGAGGGGGAAAGGAGGGAAGAGGAGCAGGTGAAAGGAGGTGGGGGGGAAGGATTTCTGTGTCTGAGGACCCCTTCTGTCCTCGCAGGTTAATCCCCAGAGGCTCCATGGAGTTCCCTGGCCTGGGGTCCCTGGGGACCTCAGAGCCCCTCCCCCAGTTTGTGGATCCTGCTCTGGTGTCCTCCACACCAGAATCAGGGGTTTTCTTCCCCTCTGGGCCTGAGGGCTTGGATGCAGCAGCTTCCTCCACTGCCCCGAGCACAGCCACCGCTGCAGCTGCGGCACTGGCCTACTACAGGGACGCTGAGGCCTACAGACACTCCCCAGGTAACTCCATTGAGTGGCTGTCTTGGCATTGGCTGAGTGCTGTTGGGGTTGCCATGGAGATCCTTGGCTAGGTCAGAATACCACTGTGAGGATATCTCAGAAATGGCTGGAAGCTTCTCAAATGGATGTGCCGACCACTTTCCCTAGTTAAGTGCAGACCTGGGAATTCCAATGCTCCTCAACCTGCCATATTGGGGCGGCCACACTGAGAGGCAATACTGGAAGTATGTGGTGGTTGCCCTAGTTGTCGAGTGATCCGTGGAGCTCCAAATCCCAACAGTCATCCTCAAAAACCCACTTGGAAATGGTCAGAGGTTATTGCAGAGGCCACACTGACCAGTGGGGGTCAGGATCCAGGAAGCATCCAATGGCCAGCAGCTGTTCTGGTAGCCTGTGGAAAAGCTGGGAACTTGGCCACCATGTTGGGGGTGCTGGGAACCACTGCACCCTGACGTGCGCTGACCCTAGACTGATTTTGCCTCTTCTTTCCTCCATCCCTACCTGCCCCCAACAGTCTTTCAGGTGTGTACCCATTGCTCAACTGTATGGAGGGGATCCCAGGGGGCTCACCATATGCCGGCTGGGCCTACGGCAAGACGGGGCTCTACCCTGCCTCAACTGTGTGTCCCACCCGCGAGGACTCTCCTCCCCAGGCCGTGGAAGATCTGGATGGAAAAGGCAGCACCAGCTTCCTGGAGACTTTGAAGACAGAGCGGCTGAGCCCAGACCTCCTGACCCTGGGACCTGCACTGCCTTCATCACTCCCTGTCCCCAATAGTGCTTATGGGGGCCCTGACTTTTCCAGTACCTTCTTTTCTCCCACCGGGAGCCCCCTCAATTCAGCAGCCTATTCCTCTCCCAAGCTTCGTGGAACTCTCCCCCTGCCTCCCTGTGGTGAGAAATTCAAAAAAGGACAGGGAAGTTGAGGTGGGAGGGGTGGCCCAAAGTAAAGCTGAGCTGAGCCTAGCTCCCTCTTCTCCTCTCCACCCCACCAGAGGCCAGGGAGTGTGTGAACTGCGGAGCAACAGCCACTCCACTGTGGCGGAGGGACAGGACAGGCCACTACCTATGCAACGCCTGCGGCCTCTATCACAAGATGAATGGGCAGAACAGGCCCCTCATCCGGCCCAAGAAGCGCCTGGTAAGACCACAGACCTGCTTCACCTTATACACAGGAACCCCTGTCCTCACCCTGTACAAGAAGCCACATCTTCCCATTATATAGGAACGCTGTTCTCATGATTACAGGAAGCTACTGCAGGCCACCCTGTATGGGAACCCCTGTCCCAATATCACATGGAAACCCTTGCCTTCATCCTACACAGGAAAATCTCCTCATCCCATATGGAAATCCTTGCCCTCACCCTGCATGAGAACTCCTGCCCTTTCCTTGTACAGGAACCCAGATCTATAGAAGCTCCTATCCTCAACCTACCCTTATAAGCTTCAAACAGAAACCTTTGTCCTCACCCTGCACACCAGTGTTTTCGTCCTTGGCTTCACACTGGAATCACCCCAGGTCCCTTCTCCCAGATGTGCTGATGGAATTGGACTGGGATGCTGCTTGGGCATCAGGATATTTTAGCTCCCCAAGTGATTCCGATACGCAGCCAAAGCTGAGAACCACCAATGTAGTCCCCCATAGAATACAGAACAAAAGAAACTTATACCAGATAGGAACCCCTGTACTGGCCCCATACAGAATCCTCAGGCATCACCCTGTAAACAAAGCCCTGCCTTCAACCTGACCCTCACTTCTTGGGTCCTCCTGACATCCCCTGTGAGCCCCTTACCCCCACTTCCACATCCCCAGGGCACTGATCTCACATCCTGTCGTCCCCTAGATTGTCAGTAAACGGGCAGGTACTCAGTGCACCAACTGCCAGACGACCACCACGACACTGTGGCGGAGAAATGCCAGTGGGGATCCCGTGTGCAATGCCTGCGGCCTCTACTACAAGCTACACCAGGTGACGCCCTGCCCCTTGGAGCCACCCCTCTGCTTTCCCTGTCTTCATGCCACACTGCCCCCCACTCTGTTCCTGTTCTACCTCTCTCTTCCCCCACAACCCTCTTTCCTCTTTCCCCTTTCCCTCCTTCCTCCCCCTTCCCCCATCTCTTCTACTTTCCCCCTTCCTCCATCTCTTCTACTTTCCCCCTTCTCTGTTATTACCCTCCCTCCTTCCTTCTCCATTCCCTCCTCCTCCGCCCTCCTCCTTCCTCTCCTCTCCCCCACCTCCAGGCATCAGCTAATGTCCAACCCCCTGCCCTAGACCTTGGGCAGCTCCTATCAGCCTTGGAGGCTTTCCTAAGCTCAGGGCCTCACAGCCTCAGGATTCCTTGGACAATCTCAGCACCCAAAAATTATCTTACCCTGAAAGAAGTGGGGTAGAGAGGGTGTCCCTGGTTGACACAGAGAGGCAAAGGTCTGGAGTTGGGGACACCCGCAGCCTCCTTTTTGGCAGGTGAACCGGCCACTGACCATGCGGAAGGATGGTATTCAGACTCGAAACCGCAAGGCATCTGGAAAAGGGAAAAAGAAACGGGGCTCCAGTCTGGGAGGCACAGG
|
pathogenic
| 334,030 |
Mutation found at chromosome X position 48902256, gene PQBP1 (polyglutamine binding protein 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
benign
|
GCCACTGCACTCCAGCCTGGGCAACAGAGAAAGACTCCATCTCAAAAAAATAAAACTGGCAATGATCATTGATTTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAGTCTTGGCCCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACCACAGGCGTGCTCCACTGTGCCTGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGATTTTCTTTTAAGCCTATTGAATGACCTGTGCCTATGGTATATATATTATTTATTATTTGTTTAGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATAATAGCTCACTGCAAGCTCAAAGTCCTGGGCTCAAATGAGCCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGACGTGTGCCACTGTGCCCAGCTAATTTTTTTTTTTTGTAGAGACAGGGGTCTCACTATGTTGACCAGGCTAGTCTCACAGACGGGTTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACTTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCATCACGCCTGGCCAAGATGAGTAAATTTTTTGATGAATCCCTATCAACTCTGAAACCAGATAGCTTTGGCTAACAGTAGAACTCATCATCTGAACCCAGACACAGATTTAGGTAACCTTTTTTTGTAAACCTCCTAATATAGAGAGTTGGATTTGGAATGTGAAAGATACTTCATATTCTTCCCGGCACACACACACACGTGTCTTTTATGTGTGGCTTGTGTGAATGTGAGTGCGTGTCTCTAGGCTCTACATGTAGGATGAGGTCCCCTGGTCCTTATCTGCTCTCCTCATCCCCACCTTGTTCTACCAGAACCAGAGGAAGAGATCATTGCCGAGGACTATGACGATGATCCTGTGGACTACGAGGCCACCAGGTTGGAGGGCCTACCACCAAGCTGGTACAAGGTGTTCGACCCTTCCTGGTGAGCCTGGGTGAGGGGGAGCTAACTTCTGGCTTCACCCTTCCTGTGCTGACCTTGGTTGTGAGGTTTAGGGGGACACAAGGGAGGGAGCCTCGGGTGGAGGGTGTTGGCATTAGGTATCTGCAGGACTCAAGTTGCTGCCTGCTGGGGCCTGGCTCCTCTGGGGTTGGAAGACTGTCTTTTCTCTCTTTTTTGAAACGGAGTTTCACTCTTGTAGCCCGGGCTGGAGTGCAATGGTGTGATCTCGGCTTATGGCAACCTCCGCCTCGTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCACACCACCACACCCAGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTCATCATATTGGTCAGGCTGGTCCCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCTGACAGTGTTTTCTCTTCAGGAGAAGAGATTCTGGGGATCCTGCCTGTGGGGTCCTGACATGGGGCAGGTATAGGCAGAGACTGGGGAGACAAGAGTTGAGGATCCAAGGCAAGGACATCTGTGCTGACACTTCTTTCCTGCGGCCCCACAGCGGGCTCCCTTACTACTGGAATGCAGACACAGACCTTGTATCCTGGCTCTCCCCACATGACCCCAACTCCGTGGTTACCAAATCGGCCAAGAAGCTCAGAAGCAGTAATGCAGGTGAGTTGGCAGGTACAAGCGTGCCTTGAGTGATCTTAGCAGTTCTCACGGAGAGGCCAAGTAGAATGATAGTGGATCAGAGGGGCAGGTGAGACCAGGCGGGCCCAGCCTCAGGCAAGGGAGGTTGTTGAAGGCAGAGGCTGCTGGGTCCTGGGGTGGCAAGAGGTCACTTCAAGACTTGTGTCCCCAGATGCTGAAGAAAAGTTGGACCGGAGCCATGACAAGTCGGACAGGGGCCATGACAAGTCGGACCGCAGCCATGAGAAACTAGACAGGGGCCACGACAAGTCAGACCGGGGCCACGACAAGTCTGACAGGGATCGAGAGCGTGGCTATGACAAGGTAGACAGAGAGAGAGAGCGAGACAGGGAACGGGATCGGGACCGCGGGTATGACAAGGCAGACCGGGAAGAGGGCAAAGAACGGCGCCACCATCGCCGGGAGGAGCTGGCTCCCTATCCCAAGAGCAAGAAGGGTAAGCTGGGCAGAATGGGGCTCGGTGAGACCAACAAGGTGCAGGGTGCACTGCGTGAGGAAGCCTTCCCTCAAAAAGATGCCTGGACCTGGGGCTAGAGGAGGGTGCTGTGGTACATGGCAGCCAGGGGCTTCATTTCTTCTTGTGGGGTGGGGCTCAGTGATCAGGGGATCCTGGTGCCTCTATTGAAGACTTTGCCCTGCCACTTCCACAGCAGTAAGCCGAAAGGATGAAGAGTTAGACCCCATGGACCCTAGCTCATACTCAGACGCCCCCCGGTAAGTGACAACCCCTCTTGACTCAGTACGTGGACACCATCCTCCGGCCTCCTTCCTCCATTCCTCATTGGGACCAGGTGGGCTGTGTCCGCCACATCACCCATCCCCATCCCCTGACTCTTTCACCGGCAGGGGCACGTGGTCAACAGGACTCCCCAAGCGGAATGAGGCCAAGACTGGCGCTGACACCACAGCAGCTGGGCCCCTCTTCCAGCAGCGGCCGTATCCATCCCCAGGGGCTGTGCTCCGGGCCAATGCAGAGGCCTCCCGAACCAAGCAGCAGGATTGAAGCTTCGGCCTCCCTGGCCCTGGGTTAAAATAAAAGCTTTCTGGTGATCCTGCCCACCATACCTGAGTGCTTCCTTTGAGGCTGCCCAACCCAAGTCGGCAAGATACACAACACATTTTATTTGCAAAAACTCAGCTAAGAGATAGTGTGGAGCTGGCAGGGGCTGGGGGGCTGAGCTGAGGTGGGTCATGAGAGAGCTTAGTCATGTTGGCCCTGGGTGGGGCAGGGGTGGTGGGGACAGGGAGTCCAGTGTCTACCTCACTCTACCCCTAATACTGATCAGAGTTTGGTCCCAGCTGGGCCAAGGGCAAGAAGAGAGAACGAGGCCAGGCCAATGTCTTCAATCCCAGCGGCTAGGAACCCTTCACCTTGGTGAGCAACCTGTGGTGGGAATGGGGAGGAAAGAAAAACACAAAGCTGGGCTAGGCTGGCAGGCGGGTTTCCTGAGCAAGTGAGGGCGGCGGTGGTGAGGCTGGTAGTCCTGGGGTTAGTAATGGTGCCCACCTGGTCAGAAAGCTACACGTGGACTAAATAAATACAACATCTTTATTTGGCATTGGATATCCTGACATTTGTTCATTACAGTTCCTTAAAAAACAAACCAAAAAATCAGAACAAATTAATCAAAAATAAAGATCCAATGGCTCTATTTACATATAGCAAAGACAGCCCAGGCATCTTCCATGCACACACACACCCCGCCCCGATACAGTTAAGGGGTTAATAAGCTTTGGGGAGCGCAGGAGGCAGGTTCCACAGTTCATCAATCCCAAGACACCCCCATGAGGTAGGGGTGCCTCACACAGCCAGACGGATATCAAGAGTATGATTGGTAGCTTTTTCCTCTCCTAGACATCTCCAAAAATAAGCCTACATCTGGCAACTGACAGTGTCTTAAATACAATGAGATTCAGCCACTTCAAGGACCTCCATTTTTCCCACACCCTGGATCATTAATGATATGATTACACCACAAATCCCAAGTCCACTAAAAAAAACAAATGGCCCCTACCACACCTTCTGCCAGAAGGGCTGATGCAAAAATCTTAGCTCTTGTCCCTTTCTCCCTGGGGACTCACAAGAAGCCCATCTTCAAGGTATCAAGGAAGCTGGCCCAAGGCCACACAAAAGACGGAACTAGTAACATGATCCAGAGCGGTGGTAAGGGAGGAGAGAAGGCCTCAAACTATGGGCAACTGAACCCCACAGGTAGGCATCG
|
GCCACTGCACTCCAGCCTGGGCAACAGAGAAAGACTCCATCTCAAAAAAATAAAACTGGCAATGATCATTGATTTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAGTCTTGGCCCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACCACAGGCGTGCTCCACTGTGCCTGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGATTTTCTTTTAAGCCTATTGAATGACCTGTGCCTATGGTATATATATTATTTATTATTTGTTTAGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATAATAGCTCACTGCAAGCTCAAAGTCCTGGGCTCAAATGAGCCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGACGTGTGCCACTGTGCCCAGCTAATTTTTTTTTTTTGTAGAGACAGGGGTCTCACTATGTTGACCAGGCTAGTCTCACAGACGGGTTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACTTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCATCACGCCTGGCCAAGATGAGTAAATTTTTTGATGAATCCCTATCAACTCTGAAACCAGATAGCTTTGGCTAACAGTAGAACTCATCATCTGAACCCAGACACAGATTTAGGTAACCTTTTTTTGTAAACCTCCTAATATAGAGAGTTGGATTTGGAATGTGAAAGATACTTCATATTCTTCCCGGCACACACACACACGTGTCTTTTATGTGTGGCTTGTGTGAATGTGAGTGCGTGTCTCTAGGCTCTACATGTAGGATGAGGTCCCCTGGTCCTTATCTGCTCTCCTCATCCCCACCTTGTTCTACCAGAACCAGAGGAAGAGATCATTGCCGAGGACTATGACGATGATCCTGTGGACTACGAGGCCACCAGGTTGGAGGGCCTACCACCAAGCTGGTACAAGGTGTTCGACCCTTCCTGGTGAGCCTGGGTGAGGGGGAGCTAACTTCTGGCTTCACCCTTCCTGTGCTGACCTTGGTTGTGAGGTTTAGGGGGACACAAGGGAGGGAGCCTCGGGTGGAGGGTGTTGGCATTAGGTATCTGCAGGACTCAAGTTGCTGCCTGCTGGGGCCTGGCTCCTCTGGGGTTGGAAGACTGTCTTTTCTCTCTTTTTTGAAACGGAGTTTCACTCTTGTAGCCCGGGCTGGAGTGCAATGGTGTGATCTCGGCTTATGGCAACCTCCGCCTCGTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCACACCACCACACCCAGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTCATCATATTGGTCAGGCTGGTCCCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCTGACAGTGTTTTCTCTTCAGGAGAAGAGATTCTGGGGATCCTGCCTGTGGGGTCCTGACATGGGGCAGGTATAGGCAGAGACTGGGGAGACAAGAGTTGAGGATCCAAGGCAAGGACATCTGTGCTGACACTTCTTTCCTGCGGCCCCACAGCGGGCTCCCTTACTACTGGAATGCAGACACAGACCTTGTATCCTGGCTCTCCCCACATGACCCCAACTCCGTGGTTACCAAATCGGCCAAGAAGCTCAGAAGCAGTAATGCAGGTGAGTTGGCAGGTACAAGCGTGCCTTGAGTGATCTTAGCAGTTCTCACGGAGAGGCCAAGTAGAATGATAGTGGATCAGAGGGGCAGGTGAGACCAGGCGGGCCCAGCCTCAGGCAAGGGAGGTTGTTGAAGGCAGAGGCTGCTGGGTCCTGGGGTGGCAAGAGGTCACTTCAAGACTTGTGTCCCCAGATGCTGAAGAAAAGTTGGACCGGAGCCATGACAAGTCGGACCGCAGCCATGAGAAACTAGACAGGGGCCACGACAAGTCAGACCGGGGCCACGACAAGTCTGACAGGGATCGAGAGCGTGGCTATGACAAGGTAGACAGAGAGAGAGAGCGAGACAGGGAACGGGATCGGGACCGCGGGTATGACAAGGCAGACCGGGAAGAGGGCAAAGAACGGCGCCACCATCGCCGGGAGGAGCTGGCTCCCTATCCCAAGAGCAAGAAGGGTAAGCTGGGCAGAATGGGGCTCGGTGAGACCAACAAGGTGCAGGGTGCACTGCGTGAGGAAGCCTTCCCTCAAAAAGATGCCTGGACCTGGGGCTAGAGGAGGGTGCTGTGGTACATGGCAGCCAGGGGCTTCATTTCTTCTTGTGGGGTGGGGCTCAGTGATCAGGGGATCCTGGTGCCTCTATTGAAGACTTTGCCCTGCCACTTCCACAGCAGTAAGCCGAAAGGATGAAGAGTTAGACCCCATGGACCCTAGCTCATACTCAGACGCCCCCCGGTAAGTGACAACCCCTCTTGACTCAGTACGTGGACACCATCCTCCGGCCTCCTTCCTCCATTCCTCATTGGGACCAGGTGGGCTGTGTCCGCCACATCACCCATCCCCATCCCCTGACTCTTTCACCGGCAGGGGCACGTGGTCAACAGGACTCCCCAAGCGGAATGAGGCCAAGACTGGCGCTGACACCACAGCAGCTGGGCCCCTCTTCCAGCAGCGGCCGTATCCATCCCCAGGGGCTGTGCTCCGGGCCAATGCAGAGGCCTCCCGAACCAAGCAGCAGGATTGAAGCTTCGGCCTCCCTGGCCCTGGGTTAAAATAAAAGCTTTCTGGTGATCCTGCCCACCATACCTGAGTGCTTCCTTTGAGGCTGCCCAACCCAAGTCGGCAAGATACACAACACATTTTATTTGCAAAAACTCAGCTAAGAGATAGTGTGGAGCTGGCAGGGGCTGGGGGGCTGAGCTGAGGTGGGTCATGAGAGAGCTTAGTCATGTTGGCCCTGGGTGGGGCAGGGGTGGTGGGGACAGGGAGTCCAGTGTCTACCTCACTCTACCCCTAATACTGATCAGAGTTTGGTCCCAGCTGGGCCAAGGGCAAGAAGAGAGAACGAGGCCAGGCCAATGTCTTCAATCCCAGCGGCTAGGAACCCTTCACCTTGGTGAGCAACCTGTGGTGGGAATGGGGAGGAAAGAAAAACACAAAGCTGGGCTAGGCTGGCAGGCGGGTTTCCTGAGCAAGTGAGGGCGGCGGTGGTGAGGCTGGTAGTCCTGGGGTTAGTAATGGTGCCCACCTGGTCAGAAAGCTACACGTGGACTAAATAAATACAACATCTTTATTTGGCATTGGATATCCTGACATTTGTTCATTACAGTTCCTTAAAAAACAAACCAAAAAATCAGAACAAATTAATCAAAAATAAAGATCCAATGGCTCTATTTACATATAGCAAAGACAGCCCAGGCATCTTCCATGCACACACACACCCCGCCCCGATACAGTTAAGGGGTTAATAAGCTTTGGGGAGCGCAGGAGGCAGGTTCCACAGTTCATCAATCCCAAGACACCCCCATGAGGTAGGGGTGCCTCACACAGCCAGACGGATATCAAGAGTATGATTGGTAGCTTTTTCCTCTCCTAGACATCTCCAAAAATAAGCCTACATCTGGCAACTGACAGTGTCTTAAATACAATGAGATTCAGCCACTTCAAGGACCTCCATTTTTCCCACACCCTGGATCATTAATGATATGATTACACCACAAATCCCAAGTCCACTAAAAAAAACAAATGGCCCCTACCACACCTTCTGCCAGAAGGGCTGATGCAAAAATCTTAGCTCTTGTCCCTTTCTCCCTGGGGACTCACAAGAAGCCCATCTTCAAGGTATCAAGGAAGCTGGCCCAAGGCCACACAAAAGACGGAACTAGTAACATGATCCAGAGCGGTGGTAAGGGAGGAGAGAAGGCCTCAAACTATGGGCAACTGAACCCCACAGGTAGGCATCGNNNNNNNNNNNNNNNNNNNNN
|
benign
| 334,061 |
Variant at chromosome X, position 48902386, gene PQBP1 (polyglutamine binding protein 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic
|
GGCTGGAGTGCAGTGGTGCAGTCTTGGCCCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACCACAGGCGTGCTCCACTGTGCCTGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGATTTTCTTTTAAGCCTATTGAATGACCTGTGCCTATGGTATATATATTATTTATTATTTGTTTAGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATAATAGCTCACTGCAAGCTCAAAGTCCTGGGCTCAAATGAGCCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGACGTGTGCCACTGTGCCCAGCTAATTTTTTTTTTTTGTAGAGACAGGGGTCTCACTATGTTGACCAGGCTAGTCTCACAGACGGGTTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACTTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCATCACGCCTGGCCAAGATGAGTAAATTTTTTGATGAATCCCTATCAACTCTGAAACCAGATAGCTTTGGCTAACAGTAGAACTCATCATCTGAACCCAGACACAGATTTAGGTAACCTTTTTTTGTAAACCTCCTAATATAGAGAGTTGGATTTGGAATGTGAAAGATACTTCATATTCTTCCCGGCACACACACACACGTGTCTTTTATGTGTGGCTTGTGTGAATGTGAGTGCGTGTCTCTAGGCTCTACATGTAGGATGAGGTCCCCTGGTCCTTATCTGCTCTCCTCATCCCCACCTTGTTCTACCAGAACCAGAGGAAGAGATCATTGCCGAGGACTATGACGATGATCCTGTGGACTACGAGGCCACCAGGTTGGAGGGCCTACCACCAAGCTGGTACAAGGTGTTCGACCCTTCCTGGTGAGCCTGGGTGAGGGGGAGCTAACTTCTGGCTTCACCCTTCCTGTGCTGACCTTGGTTGTGAGGTTTAGGGGGACACAAGGGAGGGAGCCTCGGGTGGAGGGTGTTGGCATTAGGTATCTGCAGGACTCAAGTTGCTGCCTGCTGGGGCCTGGCTCCTCTGGGGTTGGAAGACTGTCTTTTCTCTCTTTTTTGAAACGGAGTTTCACTCTTGTAGCCCGGGCTGGAGTGCAATGGTGTGATCTCGGCTTATGGCAACCTCCGCCTCGTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCACACCACCACACCCAGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTCATCATATTGGTCAGGCTGGTCCCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCTGACAGTGTTTTCTCTTCAGGAGAAGAGATTCTGGGGATCCTGCCTGTGGGGTCCTGACATGGGGCAGGTATAGGCAGAGACTGGGGAGACAAGAGTTGAGGATCCAAGGCAAGGACATCTGTGCTGACACTTCTTTCCTGCGGCCCCACAGCGGGCTCCCTTACTACTGGAATGCAGACACAGACCTTGTATCCTGGCTCTCCCCACATGACCCCAACTCCGTGGTTACCAAATCGGCCAAGAAGCTCAGAAGCAGTAATGCAGGTGAGTTGGCAGGTACAAGCGTGCCTTGAGTGATCTTAGCAGTTCTCACGGAGAGGCCAAGTAGAATGATAGTGGATCAGAGGGGCAGGTGAGACCAGGCGGGCCCAGCCTCAGGCAAGGGAGGTTGTTGAAGGCAGAGGCTGCTGGGTCCTGGGGTGGCAAGAGGTCACTTCAAGACTTGTGTCCCCAGATGCTGAAGAAAAGTTGGACCGGAGCCATGACAAGTCGGACAGGGGCCATGACAAGTCGGACCGCAGCCATGAGAAACTAGACAGGGGCCACGACAAGTCAGACCGGGGCCACGACAAGTCTGACAGGGATCGAGAGCGTGGCTATGACAAGGTAGACAGAGAGAGAGAGCGAGACAGGGAACGGGATCGGGACCGCGGGTATGACAAGGCAGACCGGGAAGAGGGCAAAGAACGGCGCCACCATCGCCGGGAGGAGCTGGCTCCCTATCCCAAGAGCAAGAAGGGTAAGCTGGGCAGAATGGGGCTCGGTGAGACCAACAAGGTGCAGGGTGCACTGCGTGAGGAAGCCTTCCCTCAAAAAGATGCCTGGACCTGGGGCTAGAGGAGGGTGCTGTGGTACATGGCAGCCAGGGGCTTCATTTCTTCTTGTGGGGTGGGGCTCAGTGATCAGGGGATCCTGGTGCCTCTATTGAAGACTTTGCCCTGCCACTTCCACAGCAGTAAGCCGAAAGGATGAAGAGTTAGACCCCATGGACCCTAGCTCATACTCAGACGCCCCCCGGTAAGTGACAACCCCTCTTGACTCAGTACGTGGACACCATCCTCCGGCCTCCTTCCTCCATTCCTCATTGGGACCAGGTGGGCTGTGTCCGCCACATCACCCATCCCCATCCCCTGACTCTTTCACCGGCAGGGGCACGTGGTCAACAGGACTCCCCAAGCGGAATGAGGCCAAGACTGGCGCTGACACCACAGCAGCTGGGCCCCTCTTCCAGCAGCGGCCGTATCCATCCCCAGGGGCTGTGCTCCGGGCCAATGCAGAGGCCTCCCGAACCAAGCAGCAGGATTGAAGCTTCGGCCTCCCTGGCCCTGGGTTAAAATAAAAGCTTTCTGGTGATCCTGCCCACCATACCTGAGTGCTTCCTTTGAGGCTGCCCAACCCAAGTCGGCAAGATACACAACACATTTTATTTGCAAAAACTCAGCTAAGAGATAGTGTGGAGCTGGCAGGGGCTGGGGGGCTGAGCTGAGGTGGGTCATGAGAGAGCTTAGTCATGTTGGCCCTGGGTGGGGCAGGGGTGGTGGGGACAGGGAGTCCAGTGTCTACCTCACTCTACCCCTAATACTGATCAGAGTTTGGTCCCAGCTGGGCCAAGGGCAAGAAGAGAGAACGAGGCCAGGCCAATGTCTTCAATCCCAGCGGCTAGGAACCCTTCACCTTGGTGAGCAACCTGTGGTGGGAATGGGGAGGAAAGAAAAACACAAAGCTGGGCTAGGCTGGCAGGCGGGTTTCCTGAGCAAGTGAGGGCGGCGGTGGTGAGGCTGGTAGTCCTGGGGTTAGTAATGGTGCCCACCTGGTCAGAAAGCTACACGTGGACTAAATAAATACAACATCTTTATTTGGCATTGGATATCCTGACATTTGTTCATTACAGTTCCTTAAAAAACAAACCAAAAAATCAGAACAAATTAATCAAAAATAAAGATCCAATGGCTCTATTTACATATAGCAAAGACAGCCCAGGCATCTTCCATGCACACACACACCCCGCCCCGATACAGTTAAGGGGTTAATAAGCTTTGGGGAGCGCAGGAGGCAGGTTCCACAGTTCATCAATCCCAAGACACCCCCATGAGGTAGGGGTGCCTCACACAGCCAGACGGATATCAAGAGTATGATTGGTAGCTTTTTCCTCTCCTAGACATCTCCAAAAATAAGCCTACATCTGGCAACTGACAGTGTCTTAAATACAATGAGATTCAGCCACTTCAAGGACCTCCATTTTTCCCACACCCTGGATCATTAATGATATGATTACACCACAAATCCCAAGTCCACTAAAAAAAACAAATGGCCCCTACCACACCTTCTGCCAGAAGGGCTGATGCAAAAATCTTAGCTCTTGTCCCTTTCTCCCTGGGGACTCACAAGAAGCCCATCTTCAAGGTATCAAGGAAGCTGGCCCAAGGCCACACAAAAGACGGAACTAGTAACATGATCCAGAGCGGTGGTAAGGGAGGAGAGAAGGCCTCAAACTATGGGCAACTGAACCCCACAGGTAGGCATCGGTCATTCCTGAAGAGCTGCGGGAGTTTTGTCCAGTGTGTCCTTATGGAGGTGGAGGGACTGCTGGGAGGGACTCTCCCAGACGAGAAACCTCCAGAAGAGGGCACAGGGTCGGGGAGGGAGCAGACAAAA
|
GGCTGGAGTGCAGTGGTGCAGTCTTGGCCCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACCACAGGCGTGCTCCACTGTGCCTGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGATTTTCTTTTAAGCCTATTGAATGACCTGTGCCTATGGTATATATATTATTTATTATTTGTTTAGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATAATAGCTCACTGCAAGCTCAAAGTCCTGGGCTCAAATGAGCCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGACGTGTGCCACTGTGCCCAGCTAATTTTTTTTTTTTGTAGAGACAGGGGTCTCACTATGTTGACCAGGCTAGTCTCACAGACGGGTTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACTTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCATCACGCCTGGCCAAGATGAGTAAATTTTTTGATGAATCCCTATCAACTCTGAAACCAGATAGCTTTGGCTAACAGTAGAACTCATCATCTGAACCCAGACACAGATTTAGGTAACCTTTTTTTGTAAACCTCCTAATATAGAGAGTTGGATTTGGAATGTGAAAGATACTTCATATTCTTCCCGGCACACACACACACGTGTCTTTTATGTGTGGCTTGTGTGAATGTGAGTGCGTGTCTCTAGGCTCTACATGTAGGATGAGGTCCCCTGGTCCTTATCTGCTCTCCTCATCCCCACCTTGTTCTACCAGAACCAGAGGAAGAGATCATTGCCGAGGACTATGACGATGATCCTGTGGACTACGAGGCCACCAGGTTGGAGGGCCTACCACCAAGCTGGTACAAGGTGTTCGACCCTTCCTGGTGAGCCTGGGTGAGGGGGAGCTAACTTCTGGCTTCACCCTTCCTGTGCTGACCTTGGTTGTGAGGTTTAGGGGGACACAAGGGAGGGAGCCTCGGGTGGAGGGTGTTGGCATTAGGTATCTGCAGGACTCAAGTTGCTGCCTGCTGGGGCCTGGCTCCTCTGGGGTTGGAAGACTGTCTTTTCTCTCTTTTTTGAAACGGAGTTTCACTCTTGTAGCCCGGGCTGGAGTGCAATGGTGTGATCTCGGCTTATGGCAACCTCCGCCTCGTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCACACCACCACACCCAGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTCATCATATTGGTCAGGCTGGTCCCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCTGACAGTGTTTTCTCTTCAGGAGAAGAGATTCTGGGGATCCTGCCTGTGGGGTCCTGACATGGGGCAGGTATAGGCAGAGACTGGGGAGACAAGAGTTGAGGATCCAAGGCAAGGACATCTGTGCTGACACTTCTTTCCTGCGGCCCCACAGCGGGCTCCCTTACTACTGGAATGCAGACACAGACCTTGTATCCTGGCTCTCCCCACATGACCCCAACTCCGTGGTTACCAAATCGGCCAAGAAGCTCAGAAGCAGTAATGCAGGTGAGTTGGCAGGTACAAGCGTGCCTTGAGTGATCTTAGCAGTTCTCACGGAGAGGCCAAGTAGAATGATAGTGGATCAGAGGGGCAGGTGAGACCAGGCGGGCCCAGCCTCAGGCAAGGGAGGTTGTTGAAGGCAGAGGCTGCTGGGTCCTGGGGTGGCAAGAGGTCACTTCAAGACTTGTGTCCCCAGATGCTGAAGAAAAGTTGGACCGGAGCCATGACAAGTCGGACAGGGGCCATGACAAGTCGGACCGCAGCCATGAGAAACTAGACAGGGGCCACGACAAGTCAGACCGGGGCCACGACAAGTCTGACAGGGATCGAGAGCGTGGCTATGACAAGGTAGAGAGAGAGAGCGAGACAGGGAACGGGATCGGGACCGCGGGTATGACAAGGCAGACCGGGAAGAGGGCAAAGAACGGCGCCACCATCGCCGGGAGGAGCTGGCTCCCTATCCCAAGAGCAAGAAGGGTAAGCTGGGCAGAATGGGGCTCGGTGAGACCAACAAGGTGCAGGGTGCACTGCGTGAGGAAGCCTTCCCTCAAAAAGATGCCTGGACCTGGGGCTAGAGGAGGGTGCTGTGGTACATGGCAGCCAGGGGCTTCATTTCTTCTTGTGGGGTGGGGCTCAGTGATCAGGGGATCCTGGTGCCTCTATTGAAGACTTTGCCCTGCCACTTCCACAGCAGTAAGCCGAAAGGATGAAGAGTTAGACCCCATGGACCCTAGCTCATACTCAGACGCCCCCCGGTAAGTGACAACCCCTCTTGACTCAGTACGTGGACACCATCCTCCGGCCTCCTTCCTCCATTCCTCATTGGGACCAGGTGGGCTGTGTCCGCCACATCACCCATCCCCATCCCCTGACTCTTTCACCGGCAGGGGCACGTGGTCAACAGGACTCCCCAAGCGGAATGAGGCCAAGACTGGCGCTGACACCACAGCAGCTGGGCCCCTCTTCCAGCAGCGGCCGTATCCATCCCCAGGGGCTGTGCTCCGGGCCAATGCAGAGGCCTCCCGAACCAAGCAGCAGGATTGAAGCTTCGGCCTCCCTGGCCCTGGGTTAAAATAAAAGCTTTCTGGTGATCCTGCCCACCATACCTGAGTGCTTCCTTTGAGGCTGCCCAACCCAAGTCGGCAAGATACACAACACATTTTATTTGCAAAAACTCAGCTAAGAGATAGTGTGGAGCTGGCAGGGGCTGGGGGGCTGAGCTGAGGTGGGTCATGAGAGAGCTTAGTCATGTTGGCCCTGGGTGGGGCAGGGGTGGTGGGGACAGGGAGTCCAGTGTCTACCTCACTCTACCCCTAATACTGATCAGAGTTTGGTCCCAGCTGGGCCAAGGGCAAGAAGAGAGAACGAGGCCAGGCCAATGTCTTCAATCCCAGCGGCTAGGAACCCTTCACCTTGGTGAGCAACCTGTGGTGGGAATGGGGAGGAAAGAAAAACACAAAGCTGGGCTAGGCTGGCAGGCGGGTTTCCTGAGCAAGTGAGGGCGGCGGTGGTGAGGCTGGTAGTCCTGGGGTTAGTAATGGTGCCCACCTGGTCAGAAAGCTACACGTGGACTAAATAAATACAACATCTTTATTTGGCATTGGATATCCTGACATTTGTTCATTACAGTTCCTTAAAAAACAAACCAAAAAATCAGAACAAATTAATCAAAAATAAAGATCCAATGGCTCTATTTACATATAGCAAAGACAGCCCAGGCATCTTCCATGCACACACACACCCCGCCCCGATACAGTTAAGGGGTTAATAAGCTTTGGGGAGCGCAGGAGGCAGGTTCCACAGTTCATCAATCCCAAGACACCCCCATGAGGTAGGGGTGCCTCACACAGCCAGACGGATATCAAGAGTATGATTGGTAGCTTTTTCCTCTCCTAGACATCTCCAAAAATAAGCCTACATCTGGCAACTGACAGTGTCTTAAATACAATGAGATTCAGCCACTTCAAGGACCTCCATTTTTCCCACACCCTGGATCATTAATGATATGATTACACCACAAATCCCAAGTCCACTAAAAAAAACAAATGGCCCCTACCACACCTTCTGCCAGAAGGGCTGATGCAAAAATCTTAGCTCTTGTCCCTTTCTCCCTGGGGACTCACAAGAAGCCCATCTTCAAGGTATCAAGGAAGCTGGCCCAAGGCCACACAAAAGACGGAACTAGTAACATGATCCAGAGCGGTGGTAAGGGAGGAGAGAAGGCCTCAAACTATGGGCAACTGAACCCCACAGGTAGGCATCGGTCATTCCTGAAGAGCTGCGGGAGTTTTGTCCAGTGTGTCCTTATGGAGGTGGAGGGACTGCTGGGAGGGACTCTCCCAGACGAGAAACCTCCAGAAGAGGGCACAGGGTCGGGGAGGGAGCAGACAAAANNNN
|
pathogenic
| 334,064 |
Assess the variant on chromosome X, position 48902390, impacting PQBP1 (polyglutamine binding protein 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['PQBP1-related_disorder', 'Renpenning_syndrome']
|
GGAGTGCAGTGGTGCAGTCTTGGCCCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACCACAGGCGTGCTCCACTGTGCCTGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGATTTTCTTTTAAGCCTATTGAATGACCTGTGCCTATGGTATATATATTATTTATTATTTGTTTAGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATAATAGCTCACTGCAAGCTCAAAGTCCTGGGCTCAAATGAGCCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGACGTGTGCCACTGTGCCCAGCTAATTTTTTTTTTTTGTAGAGACAGGGGTCTCACTATGTTGACCAGGCTAGTCTCACAGACGGGTTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACTTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCATCACGCCTGGCCAAGATGAGTAAATTTTTTGATGAATCCCTATCAACTCTGAAACCAGATAGCTTTGGCTAACAGTAGAACTCATCATCTGAACCCAGACACAGATTTAGGTAACCTTTTTTTGTAAACCTCCTAATATAGAGAGTTGGATTTGGAATGTGAAAGATACTTCATATTCTTCCCGGCACACACACACACGTGTCTTTTATGTGTGGCTTGTGTGAATGTGAGTGCGTGTCTCTAGGCTCTACATGTAGGATGAGGTCCCCTGGTCCTTATCTGCTCTCCTCATCCCCACCTTGTTCTACCAGAACCAGAGGAAGAGATCATTGCCGAGGACTATGACGATGATCCTGTGGACTACGAGGCCACCAGGTTGGAGGGCCTACCACCAAGCTGGTACAAGGTGTTCGACCCTTCCTGGTGAGCCTGGGTGAGGGGGAGCTAACTTCTGGCTTCACCCTTCCTGTGCTGACCTTGGTTGTGAGGTTTAGGGGGACACAAGGGAGGGAGCCTCGGGTGGAGGGTGTTGGCATTAGGTATCTGCAGGACTCAAGTTGCTGCCTGCTGGGGCCTGGCTCCTCTGGGGTTGGAAGACTGTCTTTTCTCTCTTTTTTGAAACGGAGTTTCACTCTTGTAGCCCGGGCTGGAGTGCAATGGTGTGATCTCGGCTTATGGCAACCTCCGCCTCGTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCACACCACCACACCCAGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTCATCATATTGGTCAGGCTGGTCCCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCTGACAGTGTTTTCTCTTCAGGAGAAGAGATTCTGGGGATCCTGCCTGTGGGGTCCTGACATGGGGCAGGTATAGGCAGAGACTGGGGAGACAAGAGTTGAGGATCCAAGGCAAGGACATCTGTGCTGACACTTCTTTCCTGCGGCCCCACAGCGGGCTCCCTTACTACTGGAATGCAGACACAGACCTTGTATCCTGGCTCTCCCCACATGACCCCAACTCCGTGGTTACCAAATCGGCCAAGAAGCTCAGAAGCAGTAATGCAGGTGAGTTGGCAGGTACAAGCGTGCCTTGAGTGATCTTAGCAGTTCTCACGGAGAGGCCAAGTAGAATGATAGTGGATCAGAGGGGCAGGTGAGACCAGGCGGGCCCAGCCTCAGGCAAGGGAGGTTGTTGAAGGCAGAGGCTGCTGGGTCCTGGGGTGGCAAGAGGTCACTTCAAGACTTGTGTCCCCAGATGCTGAAGAAAAGTTGGACCGGAGCCATGACAAGTCGGACAGGGGCCATGACAAGTCGGACCGCAGCCATGAGAAACTAGACAGGGGCCACGACAAGTCAGACCGGGGCCACGACAAGTCTGACAGGGATCGAGAGCGTGGCTATGACAAGGTAGACAGAGAGAGAGAGCGAGACAGGGAACGGGATCGGGACCGCGGGTATGACAAGGCAGACCGGGAAGAGGGCAAAGAACGGCGCCACCATCGCCGGGAGGAGCTGGCTCCCTATCCCAAGAGCAAGAAGGGTAAGCTGGGCAGAATGGGGCTCGGTGAGACCAACAAGGTGCAGGGTGCACTGCGTGAGGAAGCCTTCCCTCAAAAAGATGCCTGGACCTGGGGCTAGAGGAGGGTGCTGTGGTACATGGCAGCCAGGGGCTTCATTTCTTCTTGTGGGGTGGGGCTCAGTGATCAGGGGATCCTGGTGCCTCTATTGAAGACTTTGCCCTGCCACTTCCACAGCAGTAAGCCGAAAGGATGAAGAGTTAGACCCCATGGACCCTAGCTCATACTCAGACGCCCCCCGGTAAGTGACAACCCCTCTTGACTCAGTACGTGGACACCATCCTCCGGCCTCCTTCCTCCATTCCTCATTGGGACCAGGTGGGCTGTGTCCGCCACATCACCCATCCCCATCCCCTGACTCTTTCACCGGCAGGGGCACGTGGTCAACAGGACTCCCCAAGCGGAATGAGGCCAAGACTGGCGCTGACACCACAGCAGCTGGGCCCCTCTTCCAGCAGCGGCCGTATCCATCCCCAGGGGCTGTGCTCCGGGCCAATGCAGAGGCCTCCCGAACCAAGCAGCAGGATTGAAGCTTCGGCCTCCCTGGCCCTGGGTTAAAATAAAAGCTTTCTGGTGATCCTGCCCACCATACCTGAGTGCTTCCTTTGAGGCTGCCCAACCCAAGTCGGCAAGATACACAACACATTTTATTTGCAAAAACTCAGCTAAGAGATAGTGTGGAGCTGGCAGGGGCTGGGGGGCTGAGCTGAGGTGGGTCATGAGAGAGCTTAGTCATGTTGGCCCTGGGTGGGGCAGGGGTGGTGGGGACAGGGAGTCCAGTGTCTACCTCACTCTACCCCTAATACTGATCAGAGTTTGGTCCCAGCTGGGCCAAGGGCAAGAAGAGAGAACGAGGCCAGGCCAATGTCTTCAATCCCAGCGGCTAGGAACCCTTCACCTTGGTGAGCAACCTGTGGTGGGAATGGGGAGGAAAGAAAAACACAAAGCTGGGCTAGGCTGGCAGGCGGGTTTCCTGAGCAAGTGAGGGCGGCGGTGGTGAGGCTGGTAGTCCTGGGGTTAGTAATGGTGCCCACCTGGTCAGAAAGCTACACGTGGACTAAATAAATACAACATCTTTATTTGGCATTGGATATCCTGACATTTGTTCATTACAGTTCCTTAAAAAACAAACCAAAAAATCAGAACAAATTAATCAAAAATAAAGATCCAATGGCTCTATTTACATATAGCAAAGACAGCCCAGGCATCTTCCATGCACACACACACCCCGCCCCGATACAGTTAAGGGGTTAATAAGCTTTGGGGAGCGCAGGAGGCAGGTTCCACAGTTCATCAATCCCAAGACACCCCCATGAGGTAGGGGTGCCTCACACAGCCAGACGGATATCAAGAGTATGATTGGTAGCTTTTTCCTCTCCTAGACATCTCCAAAAATAAGCCTACATCTGGCAACTGACAGTGTCTTAAATACAATGAGATTCAGCCACTTCAAGGACCTCCATTTTTCCCACACCCTGGATCATTAATGATATGATTACACCACAAATCCCAAGTCCACTAAAAAAAACAAATGGCCCCTACCACACCTTCTGCCAGAAGGGCTGATGCAAAAATCTTAGCTCTTGTCCCTTTCTCCCTGGGGACTCACAAGAAGCCCATCTTCAAGGTATCAAGGAAGCTGGCCCAAGGCCACACAAAAGACGGAACTAGTAACATGATCCAGAGCGGTGGTAAGGGAGGAGAGAAGGCCTCAAACTATGGGCAACTGAACCCCACAGGTAGGCATCGGTCATTCCTGAAGAGCTGCGGGAGTTTTGTCCAGTGTGTCCTTATGGAGGTGGAGGGACTGCTGGGAGGGACTCTCCCAGACGAGAAACCTCCAGAAGAGGGCACAGGGTCGGGGAGGGAGCAGACAAAAAAAA
|
GGAGTGCAGTGGTGCAGTCTTGGCCCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACCACAGGCGTGCTCCACTGTGCCTGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGATTTTCTTTTAAGCCTATTGAATGACCTGTGCCTATGGTATATATATTATTTATTATTTGTTTAGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATAATAGCTCACTGCAAGCTCAAAGTCCTGGGCTCAAATGAGCCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGACGTGTGCCACTGTGCCCAGCTAATTTTTTTTTTTTGTAGAGACAGGGGTCTCACTATGTTGACCAGGCTAGTCTCACAGACGGGTTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACTTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCATCACGCCTGGCCAAGATGAGTAAATTTTTTGATGAATCCCTATCAACTCTGAAACCAGATAGCTTTGGCTAACAGTAGAACTCATCATCTGAACCCAGACACAGATTTAGGTAACCTTTTTTTGTAAACCTCCTAATATAGAGAGTTGGATTTGGAATGTGAAAGATACTTCATATTCTTCCCGGCACACACACACACGTGTCTTTTATGTGTGGCTTGTGTGAATGTGAGTGCGTGTCTCTAGGCTCTACATGTAGGATGAGGTCCCCTGGTCCTTATCTGCTCTCCTCATCCCCACCTTGTTCTACCAGAACCAGAGGAAGAGATCATTGCCGAGGACTATGACGATGATCCTGTGGACTACGAGGCCACCAGGTTGGAGGGCCTACCACCAAGCTGGTACAAGGTGTTCGACCCTTCCTGGTGAGCCTGGGTGAGGGGGAGCTAACTTCTGGCTTCACCCTTCCTGTGCTGACCTTGGTTGTGAGGTTTAGGGGGACACAAGGGAGGGAGCCTCGGGTGGAGGGTGTTGGCATTAGGTATCTGCAGGACTCAAGTTGCTGCCTGCTGGGGCCTGGCTCCTCTGGGGTTGGAAGACTGTCTTTTCTCTCTTTTTTGAAACGGAGTTTCACTCTTGTAGCCCGGGCTGGAGTGCAATGGTGTGATCTCGGCTTATGGCAACCTCCGCCTCGTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCACACCACCACACCCAGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTCATCATATTGGTCAGGCTGGTCCCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCTGACAGTGTTTTCTCTTCAGGAGAAGAGATTCTGGGGATCCTGCCTGTGGGGTCCTGACATGGGGCAGGTATAGGCAGAGACTGGGGAGACAAGAGTTGAGGATCCAAGGCAAGGACATCTGTGCTGACACTTCTTTCCTGCGGCCCCACAGCGGGCTCCCTTACTACTGGAATGCAGACACAGACCTTGTATCCTGGCTCTCCCCACATGACCCCAACTCCGTGGTTACCAAATCGGCCAAGAAGCTCAGAAGCAGTAATGCAGGTGAGTTGGCAGGTACAAGCGTGCCTTGAGTGATCTTAGCAGTTCTCACGGAGAGGCCAAGTAGAATGATAGTGGATCAGAGGGGCAGGTGAGACCAGGCGGGCCCAGCCTCAGGCAAGGGAGGTTGTTGAAGGCAGAGGCTGCTGGGTCCTGGGGTGGCAAGAGGTCACTTCAAGACTTGTGTCCCCAGATGCTGAAGAAAAGTTGGACCGGAGCCATGACAAGTCGGACAGGGGCCATGACAAGTCGGACCGCAGCCATGAGAAACTAGACAGGGGCCACGACAAGTCAGACCGGGGCCACGACAAGTCTGACAGGGATCGAGAGCGTGGCTATGACAAGGTAGACAGAGAGAGAGAGAGCGAGACAGGGAACGGGATCGGGACCGCGGGTATGACAAGGCAGACCGGGAAGAGGGCAAAGAACGGCGCCACCATCGCCGGGAGGAGCTGGCTCCCTATCCCAAGAGCAAGAAGGGTAAGCTGGGCAGAATGGGGCTCGGTGAGACCAACAAGGTGCAGGGTGCACTGCGTGAGGAAGCCTTCCCTCAAAAAGATGCCTGGACCTGGGGCTAGAGGAGGGTGCTGTGGTACATGGCAGCCAGGGGCTTCATTTCTTCTTGTGGGGTGGGGCTCAGTGATCAGGGGATCCTGGTGCCTCTATTGAAGACTTTGCCCTGCCACTTCCACAGCAGTAAGCCGAAAGGATGAAGAGTTAGACCCCATGGACCCTAGCTCATACTCAGACGCCCCCCGGTAAGTGACAACCCCTCTTGACTCAGTACGTGGACACCATCCTCCGGCCTCCTTCCTCCATTCCTCATTGGGACCAGGTGGGCTGTGTCCGCCACATCACCCATCCCCATCCCCTGACTCTTTCACCGGCAGGGGCACGTGGTCAACAGGACTCCCCAAGCGGAATGAGGCCAAGACTGGCGCTGACACCACAGCAGCTGGGCCCCTCTTCCAGCAGCGGCCGTATCCATCCCCAGGGGCTGTGCTCCGGGCCAATGCAGAGGCCTCCCGAACCAAGCAGCAGGATTGAAGCTTCGGCCTCCCTGGCCCTGGGTTAAAATAAAAGCTTTCTGGTGATCCTGCCCACCATACCTGAGTGCTTCCTTTGAGGCTGCCCAACCCAAGTCGGCAAGATACACAACACATTTTATTTGCAAAAACTCAGCTAAGAGATAGTGTGGAGCTGGCAGGGGCTGGGGGGCTGAGCTGAGGTGGGTCATGAGAGAGCTTAGTCATGTTGGCCCTGGGTGGGGCAGGGGTGGTGGGGACAGGGAGTCCAGTGTCTACCTCACTCTACCCCTAATACTGATCAGAGTTTGGTCCCAGCTGGGCCAAGGGCAAGAAGAGAGAACGAGGCCAGGCCAATGTCTTCAATCCCAGCGGCTAGGAACCCTTCACCTTGGTGAGCAACCTGTGGTGGGAATGGGGAGGAAAGAAAAACACAAAGCTGGGCTAGGCTGGCAGGCGGGTTTCCTGAGCAAGTGAGGGCGGCGGTGGTGAGGCTGGTAGTCCTGGGGTTAGTAATGGTGCCCACCTGGTCAGAAAGCTACACGTGGACTAAATAAATACAACATCTTTATTTGGCATTGGATATCCTGACATTTGTTCATTACAGTTCCTTAAAAAACAAACCAAAAAATCAGAACAAATTAATCAAAAATAAAGATCCAATGGCTCTATTTACATATAGCAAAGACAGCCCAGGCATCTTCCATGCACACACACACCCCGCCCCGATACAGTTAAGGGGTTAATAAGCTTTGGGGAGCGCAGGAGGCAGGTTCCACAGTTCATCAATCCCAAGACACCCCCATGAGGTAGGGGTGCCTCACACAGCCAGACGGATATCAAGAGTATGATTGGTAGCTTTTTCCTCTCCTAGACATCTCCAAAAATAAGCCTACATCTGGCAACTGACAGTGTCTTAAATACAATGAGATTCAGCCACTTCAAGGACCTCCATTTTTCCCACACCCTGGATCATTAATGATATGATTACACCACAAATCCCAAGTCCACTAAAAAAAACAAATGGCCCCTACCACACCTTCTGCCAGAAGGGCTGATGCAAAAATCTTAGCTCTTGTCCCTTTCTCCCTGGGGACTCACAAGAAGCCCATCTTCAAGGTATCAAGGAAGCTGGCCCAAGGCCACACAAAAGACGGAACTAGTAACATGATCCAGAGCGGTGGTAAGGGAGGAGAGAAGGCCTCAAACTATGGGCAACTGAACCCCACAGGTAGGCATCGGTCATTCCTGAAGAGCTGCGGGAGTTTTGTCCAGTGTGTCCTTATGGAGGTGGAGGGACTGCTGGGAGGGACTCTCCCAGACGAGAAACCTCCAGAAGAGGGCACAGGGTCGGGGAGGGAGCAGACAAAAAA
|
pathogenic
| 334,065 |
Does the genetic variant at chromosome X, position 48902390, impacting gene PQBP1 (polyglutamine binding protein 1), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['Delayed_speech_and_language_development', 'Hyperactivity', 'Inborn_genetic_diseases', 'Intellectual_disability', 'Microcephaly', 'Renpenning_syndrome']
|
GGAGTGCAGTGGTGCAGTCTTGGCCCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACCACAGGCGTGCTCCACTGTGCCTGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGATTTTCTTTTAAGCCTATTGAATGACCTGTGCCTATGGTATATATATTATTTATTATTTGTTTAGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATAATAGCTCACTGCAAGCTCAAAGTCCTGGGCTCAAATGAGCCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGACGTGTGCCACTGTGCCCAGCTAATTTTTTTTTTTTGTAGAGACAGGGGTCTCACTATGTTGACCAGGCTAGTCTCACAGACGGGTTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACTTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCATCACGCCTGGCCAAGATGAGTAAATTTTTTGATGAATCCCTATCAACTCTGAAACCAGATAGCTTTGGCTAACAGTAGAACTCATCATCTGAACCCAGACACAGATTTAGGTAACCTTTTTTTGTAAACCTCCTAATATAGAGAGTTGGATTTGGAATGTGAAAGATACTTCATATTCTTCCCGGCACACACACACACGTGTCTTTTATGTGTGGCTTGTGTGAATGTGAGTGCGTGTCTCTAGGCTCTACATGTAGGATGAGGTCCCCTGGTCCTTATCTGCTCTCCTCATCCCCACCTTGTTCTACCAGAACCAGAGGAAGAGATCATTGCCGAGGACTATGACGATGATCCTGTGGACTACGAGGCCACCAGGTTGGAGGGCCTACCACCAAGCTGGTACAAGGTGTTCGACCCTTCCTGGTGAGCCTGGGTGAGGGGGAGCTAACTTCTGGCTTCACCCTTCCTGTGCTGACCTTGGTTGTGAGGTTTAGGGGGACACAAGGGAGGGAGCCTCGGGTGGAGGGTGTTGGCATTAGGTATCTGCAGGACTCAAGTTGCTGCCTGCTGGGGCCTGGCTCCTCTGGGGTTGGAAGACTGTCTTTTCTCTCTTTTTTGAAACGGAGTTTCACTCTTGTAGCCCGGGCTGGAGTGCAATGGTGTGATCTCGGCTTATGGCAACCTCCGCCTCGTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCACACCACCACACCCAGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTCATCATATTGGTCAGGCTGGTCCCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCTGACAGTGTTTTCTCTTCAGGAGAAGAGATTCTGGGGATCCTGCCTGTGGGGTCCTGACATGGGGCAGGTATAGGCAGAGACTGGGGAGACAAGAGTTGAGGATCCAAGGCAAGGACATCTGTGCTGACACTTCTTTCCTGCGGCCCCACAGCGGGCTCCCTTACTACTGGAATGCAGACACAGACCTTGTATCCTGGCTCTCCCCACATGACCCCAACTCCGTGGTTACCAAATCGGCCAAGAAGCTCAGAAGCAGTAATGCAGGTGAGTTGGCAGGTACAAGCGTGCCTTGAGTGATCTTAGCAGTTCTCACGGAGAGGCCAAGTAGAATGATAGTGGATCAGAGGGGCAGGTGAGACCAGGCGGGCCCAGCCTCAGGCAAGGGAGGTTGTTGAAGGCAGAGGCTGCTGGGTCCTGGGGTGGCAAGAGGTCACTTCAAGACTTGTGTCCCCAGATGCTGAAGAAAAGTTGGACCGGAGCCATGACAAGTCGGACAGGGGCCATGACAAGTCGGACCGCAGCCATGAGAAACTAGACAGGGGCCACGACAAGTCAGACCGGGGCCACGACAAGTCTGACAGGGATCGAGAGCGTGGCTATGACAAGGTAGACAGAGAGAGAGAGCGAGACAGGGAACGGGATCGGGACCGCGGGTATGACAAGGCAGACCGGGAAGAGGGCAAAGAACGGCGCCACCATCGCCGGGAGGAGCTGGCTCCCTATCCCAAGAGCAAGAAGGGTAAGCTGGGCAGAATGGGGCTCGGTGAGACCAACAAGGTGCAGGGTGCACTGCGTGAGGAAGCCTTCCCTCAAAAAGATGCCTGGACCTGGGGCTAGAGGAGGGTGCTGTGGTACATGGCAGCCAGGGGCTTCATTTCTTCTTGTGGGGTGGGGCTCAGTGATCAGGGGATCCTGGTGCCTCTATTGAAGACTTTGCCCTGCCACTTCCACAGCAGTAAGCCGAAAGGATGAAGAGTTAGACCCCATGGACCCTAGCTCATACTCAGACGCCCCCCGGTAAGTGACAACCCCTCTTGACTCAGTACGTGGACACCATCCTCCGGCCTCCTTCCTCCATTCCTCATTGGGACCAGGTGGGCTGTGTCCGCCACATCACCCATCCCCATCCCCTGACTCTTTCACCGGCAGGGGCACGTGGTCAACAGGACTCCCCAAGCGGAATGAGGCCAAGACTGGCGCTGACACCACAGCAGCTGGGCCCCTCTTCCAGCAGCGGCCGTATCCATCCCCAGGGGCTGTGCTCCGGGCCAATGCAGAGGCCTCCCGAACCAAGCAGCAGGATTGAAGCTTCGGCCTCCCTGGCCCTGGGTTAAAATAAAAGCTTTCTGGTGATCCTGCCCACCATACCTGAGTGCTTCCTTTGAGGCTGCCCAACCCAAGTCGGCAAGATACACAACACATTTTATTTGCAAAAACTCAGCTAAGAGATAGTGTGGAGCTGGCAGGGGCTGGGGGGCTGAGCTGAGGTGGGTCATGAGAGAGCTTAGTCATGTTGGCCCTGGGTGGGGCAGGGGTGGTGGGGACAGGGAGTCCAGTGTCTACCTCACTCTACCCCTAATACTGATCAGAGTTTGGTCCCAGCTGGGCCAAGGGCAAGAAGAGAGAACGAGGCCAGGCCAATGTCTTCAATCCCAGCGGCTAGGAACCCTTCACCTTGGTGAGCAACCTGTGGTGGGAATGGGGAGGAAAGAAAAACACAAAGCTGGGCTAGGCTGGCAGGCGGGTTTCCTGAGCAAGTGAGGGCGGCGGTGGTGAGGCTGGTAGTCCTGGGGTTAGTAATGGTGCCCACCTGGTCAGAAAGCTACACGTGGACTAAATAAATACAACATCTTTATTTGGCATTGGATATCCTGACATTTGTTCATTACAGTTCCTTAAAAAACAAACCAAAAAATCAGAACAAATTAATCAAAAATAAAGATCCAATGGCTCTATTTACATATAGCAAAGACAGCCCAGGCATCTTCCATGCACACACACACCCCGCCCCGATACAGTTAAGGGGTTAATAAGCTTTGGGGAGCGCAGGAGGCAGGTTCCACAGTTCATCAATCCCAAGACACCCCCATGAGGTAGGGGTGCCTCACACAGCCAGACGGATATCAAGAGTATGATTGGTAGCTTTTTCCTCTCCTAGACATCTCCAAAAATAAGCCTACATCTGGCAACTGACAGTGTCTTAAATACAATGAGATTCAGCCACTTCAAGGACCTCCATTTTTCCCACACCCTGGATCATTAATGATATGATTACACCACAAATCCCAAGTCCACTAAAAAAAACAAATGGCCCCTACCACACCTTCTGCCAGAAGGGCTGATGCAAAAATCTTAGCTCTTGTCCCTTTCTCCCTGGGGACTCACAAGAAGCCCATCTTCAAGGTATCAAGGAAGCTGGCCCAAGGCCACACAAAAGACGGAACTAGTAACATGATCCAGAGCGGTGGTAAGGGAGGAGAGAAGGCCTCAAACTATGGGCAACTGAACCCCACAGGTAGGCATCGGTCATTCCTGAAGAGCTGCGGGAGTTTTGTCCAGTGTGTCCTTATGGAGGTGGAGGGACTGCTGGGAGGGACTCTCCCAGACGAGAAACCTCCAGAAGAGGGCACAGGGTCGGGGAGGGAGCAGACAAAAAAAA
|
GGAGTGCAGTGGTGCAGTCTTGGCCCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACCACAGGCGTGCTCCACTGTGCCTGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGATTTTCTTTTAAGCCTATTGAATGACCTGTGCCTATGGTATATATATTATTTATTATTTGTTTAGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATAATAGCTCACTGCAAGCTCAAAGTCCTGGGCTCAAATGAGCCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGACGTGTGCCACTGTGCCCAGCTAATTTTTTTTTTTTGTAGAGACAGGGGTCTCACTATGTTGACCAGGCTAGTCTCACAGACGGGTTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACTTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCATCACGCCTGGCCAAGATGAGTAAATTTTTTGATGAATCCCTATCAACTCTGAAACCAGATAGCTTTGGCTAACAGTAGAACTCATCATCTGAACCCAGACACAGATTTAGGTAACCTTTTTTTGTAAACCTCCTAATATAGAGAGTTGGATTTGGAATGTGAAAGATACTTCATATTCTTCCCGGCACACACACACACGTGTCTTTTATGTGTGGCTTGTGTGAATGTGAGTGCGTGTCTCTAGGCTCTACATGTAGGATGAGGTCCCCTGGTCCTTATCTGCTCTCCTCATCCCCACCTTGTTCTACCAGAACCAGAGGAAGAGATCATTGCCGAGGACTATGACGATGATCCTGTGGACTACGAGGCCACCAGGTTGGAGGGCCTACCACCAAGCTGGTACAAGGTGTTCGACCCTTCCTGGTGAGCCTGGGTGAGGGGGAGCTAACTTCTGGCTTCACCCTTCCTGTGCTGACCTTGGTTGTGAGGTTTAGGGGGACACAAGGGAGGGAGCCTCGGGTGGAGGGTGTTGGCATTAGGTATCTGCAGGACTCAAGTTGCTGCCTGCTGGGGCCTGGCTCCTCTGGGGTTGGAAGACTGTCTTTTCTCTCTTTTTTGAAACGGAGTTTCACTCTTGTAGCCCGGGCTGGAGTGCAATGGTGTGATCTCGGCTTATGGCAACCTCCGCCTCGTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCACACCACCACACCCAGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTCATCATATTGGTCAGGCTGGTCCCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCTGACAGTGTTTTCTCTTCAGGAGAAGAGATTCTGGGGATCCTGCCTGTGGGGTCCTGACATGGGGCAGGTATAGGCAGAGACTGGGGAGACAAGAGTTGAGGATCCAAGGCAAGGACATCTGTGCTGACACTTCTTTCCTGCGGCCCCACAGCGGGCTCCCTTACTACTGGAATGCAGACACAGACCTTGTATCCTGGCTCTCCCCACATGACCCCAACTCCGTGGTTACCAAATCGGCCAAGAAGCTCAGAAGCAGTAATGCAGGTGAGTTGGCAGGTACAAGCGTGCCTTGAGTGATCTTAGCAGTTCTCACGGAGAGGCCAAGTAGAATGATAGTGGATCAGAGGGGCAGGTGAGACCAGGCGGGCCCAGCCTCAGGCAAGGGAGGTTGTTGAAGGCAGAGGCTGCTGGGTCCTGGGGTGGCAAGAGGTCACTTCAAGACTTGTGTCCCCAGATGCTGAAGAAAAGTTGGACCGGAGCCATGACAAGTCGGACAGGGGCCATGACAAGTCGGACCGCAGCCATGAGAAACTAGACAGGGGCCACGACAAGTCAGACCGGGGCCACGACAAGTCTGACAGGGATCGAGAGCGTGGCTATGACAAGGTAGACAGAGAGAGCGAGACAGGGAACGGGATCGGGACCGCGGGTATGACAAGGCAGACCGGGAAGAGGGCAAAGAACGGCGCCACCATCGCCGGGAGGAGCTGGCTCCCTATCCCAAGAGCAAGAAGGGTAAGCTGGGCAGAATGGGGCTCGGTGAGACCAACAAGGTGCAGGGTGCACTGCGTGAGGAAGCCTTCCCTCAAAAAGATGCCTGGACCTGGGGCTAGAGGAGGGTGCTGTGGTACATGGCAGCCAGGGGCTTCATTTCTTCTTGTGGGGTGGGGCTCAGTGATCAGGGGATCCTGGTGCCTCTATTGAAGACTTTGCCCTGCCACTTCCACAGCAGTAAGCCGAAAGGATGAAGAGTTAGACCCCATGGACCCTAGCTCATACTCAGACGCCCCCCGGTAAGTGACAACCCCTCTTGACTCAGTACGTGGACACCATCCTCCGGCCTCCTTCCTCCATTCCTCATTGGGACCAGGTGGGCTGTGTCCGCCACATCACCCATCCCCATCCCCTGACTCTTTCACCGGCAGGGGCACGTGGTCAACAGGACTCCCCAAGCGGAATGAGGCCAAGACTGGCGCTGACACCACAGCAGCTGGGCCCCTCTTCCAGCAGCGGCCGTATCCATCCCCAGGGGCTGTGCTCCGGGCCAATGCAGAGGCCTCCCGAACCAAGCAGCAGGATTGAAGCTTCGGCCTCCCTGGCCCTGGGTTAAAATAAAAGCTTTCTGGTGATCCTGCCCACCATACCTGAGTGCTTCCTTTGAGGCTGCCCAACCCAAGTCGGCAAGATACACAACACATTTTATTTGCAAAAACTCAGCTAAGAGATAGTGTGGAGCTGGCAGGGGCTGGGGGGCTGAGCTGAGGTGGGTCATGAGAGAGCTTAGTCATGTTGGCCCTGGGTGGGGCAGGGGTGGTGGGGACAGGGAGTCCAGTGTCTACCTCACTCTACCCCTAATACTGATCAGAGTTTGGTCCCAGCTGGGCCAAGGGCAAGAAGAGAGAACGAGGCCAGGCCAATGTCTTCAATCCCAGCGGCTAGGAACCCTTCACCTTGGTGAGCAACCTGTGGTGGGAATGGGGAGGAAAGAAAAACACAAAGCTGGGCTAGGCTGGCAGGCGGGTTTCCTGAGCAAGTGAGGGCGGCGGTGGTGAGGCTGGTAGTCCTGGGGTTAGTAATGGTGCCCACCTGGTCAGAAAGCTACACGTGGACTAAATAAATACAACATCTTTATTTGGCATTGGATATCCTGACATTTGTTCATTACAGTTCCTTAAAAAACAAACCAAAAAATCAGAACAAATTAATCAAAAATAAAGATCCAATGGCTCTATTTACATATAGCAAAGACAGCCCAGGCATCTTCCATGCACACACACACCCCGCCCCGATACAGTTAAGGGGTTAATAAGCTTTGGGGAGCGCAGGAGGCAGGTTCCACAGTTCATCAATCCCAAGACACCCCCATGAGGTAGGGGTGCCTCACACAGCCAGACGGATATCAAGAGTATGATTGGTAGCTTTTTCCTCTCCTAGACATCTCCAAAAATAAGCCTACATCTGGCAACTGACAGTGTCTTAAATACAATGAGATTCAGCCACTTCAAGGACCTCCATTTTTCCCACACCCTGGATCATTAATGATATGATTACACCACAAATCCCAAGTCCACTAAAAAAAACAAATGGCCCCTACCACACCTTCTGCCAGAAGGGCTGATGCAAAAATCTTAGCTCTTGTCCCTTTCTCCCTGGGGACTCACAAGAAGCCCATCTTCAAGGTATCAAGGAAGCTGGCCCAAGGCCACACAAAAGACGGAACTAGTAACATGATCCAGAGCGGTGGTAAGGGAGGAGAGAAGGCCTCAAACTATGGGCAACTGAACCCCACAGGTAGGCATCGGTCATTCCTGAAGAGCTGCGGGAGTTTTGTCCAGTGTGTCCTTATGGAGGTGGAGGGACTGCTGGGAGGGACTCTCCCAGACGAGAAACCTCCAGAAGAGGGCACAGGGTCGGGGAGGGAGCAGACAAAAAAAANNNN
|
pathogenic
| 334,066 |
Considering the variant on chromosome X, location 48902776, involving gene PQBP1 (polyglutamine binding protein 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic
|
TTTTTTTTGTAGAGACAGGGGTCTCACTATGTTGACCAGGCTAGTCTCACAGACGGGTTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACTTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCATCACGCCTGGCCAAGATGAGTAAATTTTTTGATGAATCCCTATCAACTCTGAAACCAGATAGCTTTGGCTAACAGTAGAACTCATCATCTGAACCCAGACACAGATTTAGGTAACCTTTTTTTGTAAACCTCCTAATATAGAGAGTTGGATTTGGAATGTGAAAGATACTTCATATTCTTCCCGGCACACACACACACGTGTCTTTTATGTGTGGCTTGTGTGAATGTGAGTGCGTGTCTCTAGGCTCTACATGTAGGATGAGGTCCCCTGGTCCTTATCTGCTCTCCTCATCCCCACCTTGTTCTACCAGAACCAGAGGAAGAGATCATTGCCGAGGACTATGACGATGATCCTGTGGACTACGAGGCCACCAGGTTGGAGGGCCTACCACCAAGCTGGTACAAGGTGTTCGACCCTTCCTGGTGAGCCTGGGTGAGGGGGAGCTAACTTCTGGCTTCACCCTTCCTGTGCTGACCTTGGTTGTGAGGTTTAGGGGGACACAAGGGAGGGAGCCTCGGGTGGAGGGTGTTGGCATTAGGTATCTGCAGGACTCAAGTTGCTGCCTGCTGGGGCCTGGCTCCTCTGGGGTTGGAAGACTGTCTTTTCTCTCTTTTTTGAAACGGAGTTTCACTCTTGTAGCCCGGGCTGGAGTGCAATGGTGTGATCTCGGCTTATGGCAACCTCCGCCTCGTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCACACCACCACACCCAGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTCATCATATTGGTCAGGCTGGTCCCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCTGACAGTGTTTTCTCTTCAGGAGAAGAGATTCTGGGGATCCTGCCTGTGGGGTCCTGACATGGGGCAGGTATAGGCAGAGACTGGGGAGACAAGAGTTGAGGATCCAAGGCAAGGACATCTGTGCTGACACTTCTTTCCTGCGGCCCCACAGCGGGCTCCCTTACTACTGGAATGCAGACACAGACCTTGTATCCTGGCTCTCCCCACATGACCCCAACTCCGTGGTTACCAAATCGGCCAAGAAGCTCAGAAGCAGTAATGCAGGTGAGTTGGCAGGTACAAGCGTGCCTTGAGTGATCTTAGCAGTTCTCACGGAGAGGCCAAGTAGAATGATAGTGGATCAGAGGGGCAGGTGAGACCAGGCGGGCCCAGCCTCAGGCAAGGGAGGTTGTTGAAGGCAGAGGCTGCTGGGTCCTGGGGTGGCAAGAGGTCACTTCAAGACTTGTGTCCCCAGATGCTGAAGAAAAGTTGGACCGGAGCCATGACAAGTCGGACAGGGGCCATGACAAGTCGGACCGCAGCCATGAGAAACTAGACAGGGGCCACGACAAGTCAGACCGGGGCCACGACAAGTCTGACAGGGATCGAGAGCGTGGCTATGACAAGGTAGACAGAGAGAGAGAGCGAGACAGGGAACGGGATCGGGACCGCGGGTATGACAAGGCAGACCGGGAAGAGGGCAAAGAACGGCGCCACCATCGCCGGGAGGAGCTGGCTCCCTATCCCAAGAGCAAGAAGGGTAAGCTGGGCAGAATGGGGCTCGGTGAGACCAACAAGGTGCAGGGTGCACTGCGTGAGGAAGCCTTCCCTCAAAAAGATGCCTGGACCTGGGGCTAGAGGAGGGTGCTGTGGTACATGGCAGCCAGGGGCTTCATTTCTTCTTGTGGGGTGGGGCTCAGTGATCAGGGGATCCTGGTGCCTCTATTGAAGACTTTGCCCTGCCACTTCCACAGCAGTAAGCCGAAAGGATGAAGAGTTAGACCCCATGGACCCTAGCTCATACTCAGACGCCCCCCGGTAAGTGACAACCCCTCTTGACTCAGTACGTGGACACCATCCTCCGGCCTCCTTCCTCCATTCCTCATTGGGACCAGGTGGGCTGTGTCCGCCACATCACCCATCCCCATCCCCTGACTCTTTCACCGGCAGGGGCACGTGGTCAACAGGACTCCCCAAGCGGAATGAGGCCAAGACTGGCGCTGACACCACAGCAGCTGGGCCCCTCTTCCAGCAGCGGCCGTATCCATCCCCAGGGGCTGTGCTCCGGGCCAATGCAGAGGCCTCCCGAACCAAGCAGCAGGATTGAAGCTTCGGCCTCCCTGGCCCTGGGTTAAAATAAAAGCTTTCTGGTGATCCTGCCCACCATACCTGAGTGCTTCCTTTGAGGCTGCCCAACCCAAGTCGGCAAGATACACAACACATTTTATTTGCAAAAACTCAGCTAAGAGATAGTGTGGAGCTGGCAGGGGCTGGGGGGCTGAGCTGAGGTGGGTCATGAGAGAGCTTAGTCATGTTGGCCCTGGGTGGGGCAGGGGTGGTGGGGACAGGGAGTCCAGTGTCTACCTCACTCTACCCCTAATACTGATCAGAGTTTGGTCCCAGCTGGGCCAAGGGCAAGAAGAGAGAACGAGGCCAGGCCAATGTCTTCAATCCCAGCGGCTAGGAACCCTTCACCTTGGTGAGCAACCTGTGGTGGGAATGGGGAGGAAAGAAAAACACAAAGCTGGGCTAGGCTGGCAGGCGGGTTTCCTGAGCAAGTGAGGGCGGCGGTGGTGAGGCTGGTAGTCCTGGGGTTAGTAATGGTGCCCACCTGGTCAGAAAGCTACACGTGGACTAAATAAATACAACATCTTTATTTGGCATTGGATATCCTGACATTTGTTCATTACAGTTCCTTAAAAAACAAACCAAAAAATCAGAACAAATTAATCAAAAATAAAGATCCAATGGCTCTATTTACATATAGCAAAGACAGCCCAGGCATCTTCCATGCACACACACACCCCGCCCCGATACAGTTAAGGGGTTAATAAGCTTTGGGGAGCGCAGGAGGCAGGTTCCACAGTTCATCAATCCCAAGACACCCCCATGAGGTAGGGGTGCCTCACACAGCCAGACGGATATCAAGAGTATGATTGGTAGCTTTTTCCTCTCCTAGACATCTCCAAAAATAAGCCTACATCTGGCAACTGACAGTGTCTTAAATACAATGAGATTCAGCCACTTCAAGGACCTCCATTTTTCCCACACCCTGGATCATTAATGATATGATTACACCACAAATCCCAAGTCCACTAAAAAAAACAAATGGCCCCTACCACACCTTCTGCCAGAAGGGCTGATGCAAAAATCTTAGCTCTTGTCCCTTTCTCCCTGGGGACTCACAAGAAGCCCATCTTCAAGGTATCAAGGAAGCTGGCCCAAGGCCACACAAAAGACGGAACTAGTAACATGATCCAGAGCGGTGGTAAGGGAGGAGAGAAGGCCTCAAACTATGGGCAACTGAACCCCACAGGTAGGCATCGGTCATTCCTGAAGAGCTGCGGGAGTTTTGTCCAGTGTGTCCTTATGGAGGTGGAGGGACTGCTGGGAGGGACTCTCCCAGACGAGAAACCTCCAGAAGAGGGCACAGGGTCGGGGAGGGAGCAGACAAAAAAAAGGCCTTGAATGACAATACCCCCAACCCTGCCTCCAAAGAGGTTAGAGGGAGCAGAGGCGGCAGCTCTAAAACCCCCTCCAGGGGAAGGGGGTCACCCTACCAGGAAGGGTTCACGTGACACCCAGCTCTAGTCCCACACCCCTCCAGAAGTCTCAGTGACCTGGGAGAAAAGACCATCTCCCAAACCCAGAGGAGCCAGGCCCCGGAGGGTGGCGACTTGGGTCCTGCAGATGCCCAACACCCTCCACCCCAGTCCCCCTCCCTTGTGTCCCCCCATTGCTGCCAGCCCTCACTTCACCAGCACTGACTTTGGCAGAAAGGGCTCCGTGATGAGGTCTCCACGGTGGGAAGACAGCTGCGGTGGTGGTGGCTGCCCGGGAGGCTGC
|
TTTTTTTTGTAGAGACAGGGGTCTCACTATGTTGACCAGGCTAGTCTCACAGACGGGTTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACTTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCATCACGCCTGGCCAAGATGAGTAAATTTTTTGATGAATCCCTATCAACTCTGAAACCAGATAGCTTTGGCTAACAGTAGAACTCATCATCTGAACCCAGACACAGATTTAGGTAACCTTTTTTTGTAAACCTCCTAATATAGAGAGTTGGATTTGGAATGTGAAAGATACTTCATATTCTTCCCGGCACACACACACACGTGTCTTTTATGTGTGGCTTGTGTGAATGTGAGTGCGTGTCTCTAGGCTCTACATGTAGGATGAGGTCCCCTGGTCCTTATCTGCTCTCCTCATCCCCACCTTGTTCTACCAGAACCAGAGGAAGAGATCATTGCCGAGGACTATGACGATGATCCTGTGGACTACGAGGCCACCAGGTTGGAGGGCCTACCACCAAGCTGGTACAAGGTGTTCGACCCTTCCTGGTGAGCCTGGGTGAGGGGGAGCTAACTTCTGGCTTCACCCTTCCTGTGCTGACCTTGGTTGTGAGGTTTAGGGGGACACAAGGGAGGGAGCCTCGGGTGGAGGGTGTTGGCATTAGGTATCTGCAGGACTCAAGTTGCTGCCTGCTGGGGCCTGGCTCCTCTGGGGTTGGAAGACTGTCTTTTCTCTCTTTTTTGAAACGGAGTTTCACTCTTGTAGCCCGGGCTGGAGTGCAATGGTGTGATCTCGGCTTATGGCAACCTCCGCCTCGTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCACACCACCACACCCAGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTCATCATATTGGTCAGGCTGGTCCCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCTGACAGTGTTTTCTCTTCAGGAGAAGAGATTCTGGGGATCCTGCCTGTGGGGTCCTGACATGGGGCAGGTATAGGCAGAGACTGGGGAGACAAGAGTTGAGGATCCAAGGCAAGGACATCTGTGCTGACACTTCTTTCCTGCGGCCCCACAGCGGGCTCCCTTACTACTGGAATGCAGACACAGACCTTGTATCCTGGCTCTCCCCACATGACCCCAACTCCGTGGTTACCAAATCGGCCAAGAAGCTCAGAAGCAGTAATGCAGGTGAGTTGGCAGGTACAAGCGTGCCTTGAGTGATCTTAGCAGTTCTCACGGAGAGGCCAAGTAGAATGATAGTGGATCAGAGGGGCAGGTGAGACCAGGCGGGCCCAGCCTCAGGCAAGGGAGGTTGTTGAAGGCAGAGGCTGCTGGGTCCTGGGGTGGCAAGAGGTCACTTCAAGACTTGTGTCCCCAGATGCTGAAGAAAAGTTGGACCGGAGCCATGACAAGTCGGACAGGGGCCATGACAAGTCGGACCGCAGCCATGAGAAACTAGACAGGGGCCACGACAAGTCAGACCGGGGCCACGACAAGTCTGACAGGGATCGAGAGCGTGGCTATGACAAGGTAGACAGAGAGAGAGAGCGAGACAGGGAACGGGATCGGGACCGCGGGTATGACAAGGCAGACCGGGAAGAGGGCAAAGAACGGCGCCACCATCGCCGGGAGGAGCTGGCTCCCTATCCCAAGAGCAAGAAGGGTAAGCTGGGCAGAATGGGGCTCGGTGAGACCAACAAGGTGCAGGGTGCACTGCGTGAGGAAGCCTTCCCTCAAAAAGATGCCTGGACCTGGGGCTAGAGGAGGGTGCTGTGGTACATGGCAGCCAGGGGCTTCATTTCTTCTTGTGGGGTGGGGCTCAGTGATCAGGGGATCCTGGTGCCTCTATTGAAGACTTTGCCCTGCCACTTCCACAGCAGTAAGCCGAAAGGATGAAGAGTTAGACCCCATGGACCCTAGCTTACTCAGACGCCCCCCGGTAAGTGACAACCCCTCTTGACTCAGTACGTGGACACCATCCTCCGGCCTCCTTCCTCCATTCCTCATTGGGACCAGGTGGGCTGTGTCCGCCACATCACCCATCCCCATCCCCTGACTCTTTCACCGGCAGGGGCACGTGGTCAACAGGACTCCCCAAGCGGAATGAGGCCAAGACTGGCGCTGACACCACAGCAGCTGGGCCCCTCTTCCAGCAGCGGCCGTATCCATCCCCAGGGGCTGTGCTCCGGGCCAATGCAGAGGCCTCCCGAACCAAGCAGCAGGATTGAAGCTTCGGCCTCCCTGGCCCTGGGTTAAAATAAAAGCTTTCTGGTGATCCTGCCCACCATACCTGAGTGCTTCCTTTGAGGCTGCCCAACCCAAGTCGGCAAGATACACAACACATTTTATTTGCAAAAACTCAGCTAAGAGATAGTGTGGAGCTGGCAGGGGCTGGGGGGCTGAGCTGAGGTGGGTCATGAGAGAGCTTAGTCATGTTGGCCCTGGGTGGGGCAGGGGTGGTGGGGACAGGGAGTCCAGTGTCTACCTCACTCTACCCCTAATACTGATCAGAGTTTGGTCCCAGCTGGGCCAAGGGCAAGAAGAGAGAACGAGGCCAGGCCAATGTCTTCAATCCCAGCGGCTAGGAACCCTTCACCTTGGTGAGCAACCTGTGGTGGGAATGGGGAGGAAAGAAAAACACAAAGCTGGGCTAGGCTGGCAGGCGGGTTTCCTGAGCAAGTGAGGGCGGCGGTGGTGAGGCTGGTAGTCCTGGGGTTAGTAATGGTGCCCACCTGGTCAGAAAGCTACACGTGGACTAAATAAATACAACATCTTTATTTGGCATTGGATATCCTGACATTTGTTCATTACAGTTCCTTAAAAAACAAACCAAAAAATCAGAACAAATTAATCAAAAATAAAGATCCAATGGCTCTATTTACATATAGCAAAGACAGCCCAGGCATCTTCCATGCACACACACACCCCGCCCCGATACAGTTAAGGGGTTAATAAGCTTTGGGGAGCGCAGGAGGCAGGTTCCACAGTTCATCAATCCCAAGACACCCCCATGAGGTAGGGGTGCCTCACACAGCCAGACGGATATCAAGAGTATGATTGGTAGCTTTTTCCTCTCCTAGACATCTCCAAAAATAAGCCTACATCTGGCAACTGACAGTGTCTTAAATACAATGAGATTCAGCCACTTCAAGGACCTCCATTTTTCCCACACCCTGGATCATTAATGATATGATTACACCACAAATCCCAAGTCCACTAAAAAAAACAAATGGCCCCTACCACACCTTCTGCCAGAAGGGCTGATGCAAAAATCTTAGCTCTTGTCCCTTTCTCCCTGGGGACTCACAAGAAGCCCATCTTCAAGGTATCAAGGAAGCTGGCCCAAGGCCACACAAAAGACGGAACTAGTAACATGATCCAGAGCGGTGGTAAGGGAGGAGAGAAGGCCTCAAACTATGGGCAACTGAACCCCACAGGTAGGCATCGGTCATTCCTGAAGAGCTGCGGGAGTTTTGTCCAGTGTGTCCTTATGGAGGTGGAGGGACTGCTGGGAGGGACTCTCCCAGACGAGAAACCTCCAGAAGAGGGCACAGGGTCGGGGAGGGAGCAGACAAAAAAAAGGCCTTGAATGACAATACCCCCAACCCTGCCTCCAAAGAGGTTAGAGGGAGCAGAGGCGGCAGCTCTAAAACCCCCTCCAGGGGAAGGGGGTCACCCTACCAGGAAGGGTTCACGTGACACCCAGCTCTAGTCCCACACCCCTCCAGAAGTCTCAGTGACCTGGGAGAAAAGACCATCTCCCAAACCCAGAGGAGCCAGGCCCCGGAGGGTGGCGACTTGGGTCCTGCAGATGCCCAACACCCTCCACCCCAGTCCCCCTCCCTTGTGTCCCCCCATTGCTGCCAGCCCTCACTTCACCAGCACTGACTTTGGCAGAAAGGGCTCCGTGATGAGGTCTCCACGGTGGGAAGACAGCTGCGGTGGTGGTGGCTGCCCGGGAGGCTGCNN
|
pathogenic
| 334,070 |
Mutation at chromosome X, position 48902788, within PQBP1 (polyglutamine binding protein 1): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Renpenning_syndrome']
|
AGACAGGGGTCTCACTATGTTGACCAGGCTAGTCTCACAGACGGGTTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACTTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCATCACGCCTGGCCAAGATGAGTAAATTTTTTGATGAATCCCTATCAACTCTGAAACCAGATAGCTTTGGCTAACAGTAGAACTCATCATCTGAACCCAGACACAGATTTAGGTAACCTTTTTTTGTAAACCTCCTAATATAGAGAGTTGGATTTGGAATGTGAAAGATACTTCATATTCTTCCCGGCACACACACACACGTGTCTTTTATGTGTGGCTTGTGTGAATGTGAGTGCGTGTCTCTAGGCTCTACATGTAGGATGAGGTCCCCTGGTCCTTATCTGCTCTCCTCATCCCCACCTTGTTCTACCAGAACCAGAGGAAGAGATCATTGCCGAGGACTATGACGATGATCCTGTGGACTACGAGGCCACCAGGTTGGAGGGCCTACCACCAAGCTGGTACAAGGTGTTCGACCCTTCCTGGTGAGCCTGGGTGAGGGGGAGCTAACTTCTGGCTTCACCCTTCCTGTGCTGACCTTGGTTGTGAGGTTTAGGGGGACACAAGGGAGGGAGCCTCGGGTGGAGGGTGTTGGCATTAGGTATCTGCAGGACTCAAGTTGCTGCCTGCTGGGGCCTGGCTCCTCTGGGGTTGGAAGACTGTCTTTTCTCTCTTTTTTGAAACGGAGTTTCACTCTTGTAGCCCGGGCTGGAGTGCAATGGTGTGATCTCGGCTTATGGCAACCTCCGCCTCGTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCACACCACCACACCCAGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTCATCATATTGGTCAGGCTGGTCCCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCTGACAGTGTTTTCTCTTCAGGAGAAGAGATTCTGGGGATCCTGCCTGTGGGGTCCTGACATGGGGCAGGTATAGGCAGAGACTGGGGAGACAAGAGTTGAGGATCCAAGGCAAGGACATCTGTGCTGACACTTCTTTCCTGCGGCCCCACAGCGGGCTCCCTTACTACTGGAATGCAGACACAGACCTTGTATCCTGGCTCTCCCCACATGACCCCAACTCCGTGGTTACCAAATCGGCCAAGAAGCTCAGAAGCAGTAATGCAGGTGAGTTGGCAGGTACAAGCGTGCCTTGAGTGATCTTAGCAGTTCTCACGGAGAGGCCAAGTAGAATGATAGTGGATCAGAGGGGCAGGTGAGACCAGGCGGGCCCAGCCTCAGGCAAGGGAGGTTGTTGAAGGCAGAGGCTGCTGGGTCCTGGGGTGGCAAGAGGTCACTTCAAGACTTGTGTCCCCAGATGCTGAAGAAAAGTTGGACCGGAGCCATGACAAGTCGGACAGGGGCCATGACAAGTCGGACCGCAGCCATGAGAAACTAGACAGGGGCCACGACAAGTCAGACCGGGGCCACGACAAGTCTGACAGGGATCGAGAGCGTGGCTATGACAAGGTAGACAGAGAGAGAGAGCGAGACAGGGAACGGGATCGGGACCGCGGGTATGACAAGGCAGACCGGGAAGAGGGCAAAGAACGGCGCCACCATCGCCGGGAGGAGCTGGCTCCCTATCCCAAGAGCAAGAAGGGTAAGCTGGGCAGAATGGGGCTCGGTGAGACCAACAAGGTGCAGGGTGCACTGCGTGAGGAAGCCTTCCCTCAAAAAGATGCCTGGACCTGGGGCTAGAGGAGGGTGCTGTGGTACATGGCAGCCAGGGGCTTCATTTCTTCTTGTGGGGTGGGGCTCAGTGATCAGGGGATCCTGGTGCCTCTATTGAAGACTTTGCCCTGCCACTTCCACAGCAGTAAGCCGAAAGGATGAAGAGTTAGACCCCATGGACCCTAGCTCATACTCAGACGCCCCCCGGTAAGTGACAACCCCTCTTGACTCAGTACGTGGACACCATCCTCCGGCCTCCTTCCTCCATTCCTCATTGGGACCAGGTGGGCTGTGTCCGCCACATCACCCATCCCCATCCCCTGACTCTTTCACCGGCAGGGGCACGTGGTCAACAGGACTCCCCAAGCGGAATGAGGCCAAGACTGGCGCTGACACCACAGCAGCTGGGCCCCTCTTCCAGCAGCGGCCGTATCCATCCCCAGGGGCTGTGCTCCGGGCCAATGCAGAGGCCTCCCGAACCAAGCAGCAGGATTGAAGCTTCGGCCTCCCTGGCCCTGGGTTAAAATAAAAGCTTTCTGGTGATCCTGCCCACCATACCTGAGTGCTTCCTTTGAGGCTGCCCAACCCAAGTCGGCAAGATACACAACACATTTTATTTGCAAAAACTCAGCTAAGAGATAGTGTGGAGCTGGCAGGGGCTGGGGGGCTGAGCTGAGGTGGGTCATGAGAGAGCTTAGTCATGTTGGCCCTGGGTGGGGCAGGGGTGGTGGGGACAGGGAGTCCAGTGTCTACCTCACTCTACCCCTAATACTGATCAGAGTTTGGTCCCAGCTGGGCCAAGGGCAAGAAGAGAGAACGAGGCCAGGCCAATGTCTTCAATCCCAGCGGCTAGGAACCCTTCACCTTGGTGAGCAACCTGTGGTGGGAATGGGGAGGAAAGAAAAACACAAAGCTGGGCTAGGCTGGCAGGCGGGTTTCCTGAGCAAGTGAGGGCGGCGGTGGTGAGGCTGGTAGTCCTGGGGTTAGTAATGGTGCCCACCTGGTCAGAAAGCTACACGTGGACTAAATAAATACAACATCTTTATTTGGCATTGGATATCCTGACATTTGTTCATTACAGTTCCTTAAAAAACAAACCAAAAAATCAGAACAAATTAATCAAAAATAAAGATCCAATGGCTCTATTTACATATAGCAAAGACAGCCCAGGCATCTTCCATGCACACACACACCCCGCCCCGATACAGTTAAGGGGTTAATAAGCTTTGGGGAGCGCAGGAGGCAGGTTCCACAGTTCATCAATCCCAAGACACCCCCATGAGGTAGGGGTGCCTCACACAGCCAGACGGATATCAAGAGTATGATTGGTAGCTTTTTCCTCTCCTAGACATCTCCAAAAATAAGCCTACATCTGGCAACTGACAGTGTCTTAAATACAATGAGATTCAGCCACTTCAAGGACCTCCATTTTTCCCACACCCTGGATCATTAATGATATGATTACACCACAAATCCCAAGTCCACTAAAAAAAACAAATGGCCCCTACCACACCTTCTGCCAGAAGGGCTGATGCAAAAATCTTAGCTCTTGTCCCTTTCTCCCTGGGGACTCACAAGAAGCCCATCTTCAAGGTATCAAGGAAGCTGGCCCAAGGCCACACAAAAGACGGAACTAGTAACATGATCCAGAGCGGTGGTAAGGGAGGAGAGAAGGCCTCAAACTATGGGCAACTGAACCCCACAGGTAGGCATCGGTCATTCCTGAAGAGCTGCGGGAGTTTTGTCCAGTGTGTCCTTATGGAGGTGGAGGGACTGCTGGGAGGGACTCTCCCAGACGAGAAACCTCCAGAAGAGGGCACAGGGTCGGGGAGGGAGCAGACAAAAAAAAGGCCTTGAATGACAATACCCCCAACCCTGCCTCCAAAGAGGTTAGAGGGAGCAGAGGCGGCAGCTCTAAAACCCCCTCCAGGGGAAGGGGGTCACCCTACCAGGAAGGGTTCACGTGACACCCAGCTCTAGTCCCACACCCCTCCAGAAGTCTCAGTGACCTGGGAGAAAAGACCATCTCCCAAACCCAGAGGAGCCAGGCCCCGGAGGGTGGCGACTTGGGTCCTGCAGATGCCCAACACCCTCCACCCCAGTCCCCCTCCCTTGTGTCCCCCCATTGCTGCCAGCCCTCACTTCACCAGCACTGACTTTGGCAGAAAGGGCTCCGTGATGAGGTCTCCACGGTGGGAAGACAGCTGCGGTGGTGGTGGCTGCCCGGGAGGCTGCTGGTGAACGCAG
|
AGACAGGGGTCTCACTATGTTGACCAGGCTAGTCTCACAGACGGGTTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACTTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCATCACGCCTGGCCAAGATGAGTAAATTTTTTGATGAATCCCTATCAACTCTGAAACCAGATAGCTTTGGCTAACAGTAGAACTCATCATCTGAACCCAGACACAGATTTAGGTAACCTTTTTTTGTAAACCTCCTAATATAGAGAGTTGGATTTGGAATGTGAAAGATACTTCATATTCTTCCCGGCACACACACACACGTGTCTTTTATGTGTGGCTTGTGTGAATGTGAGTGCGTGTCTCTAGGCTCTACATGTAGGATGAGGTCCCCTGGTCCTTATCTGCTCTCCTCATCCCCACCTTGTTCTACCAGAACCAGAGGAAGAGATCATTGCCGAGGACTATGACGATGATCCTGTGGACTACGAGGCCACCAGGTTGGAGGGCCTACCACCAAGCTGGTACAAGGTGTTCGACCCTTCCTGGTGAGCCTGGGTGAGGGGGAGCTAACTTCTGGCTTCACCCTTCCTGTGCTGACCTTGGTTGTGAGGTTTAGGGGGACACAAGGGAGGGAGCCTCGGGTGGAGGGTGTTGGCATTAGGTATCTGCAGGACTCAAGTTGCTGCCTGCTGGGGCCTGGCTCCTCTGGGGTTGGAAGACTGTCTTTTCTCTCTTTTTTGAAACGGAGTTTCACTCTTGTAGCCCGGGCTGGAGTGCAATGGTGTGATCTCGGCTTATGGCAACCTCCGCCTCGTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCACACCACCACACCCAGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTCATCATATTGGTCAGGCTGGTCCCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCTGACAGTGTTTTCTCTTCAGGAGAAGAGATTCTGGGGATCCTGCCTGTGGGGTCCTGACATGGGGCAGGTATAGGCAGAGACTGGGGAGACAAGAGTTGAGGATCCAAGGCAAGGACATCTGTGCTGACACTTCTTTCCTGCGGCCCCACAGCGGGCTCCCTTACTACTGGAATGCAGACACAGACCTTGTATCCTGGCTCTCCCCACATGACCCCAACTCCGTGGTTACCAAATCGGCCAAGAAGCTCAGAAGCAGTAATGCAGGTGAGTTGGCAGGTACAAGCGTGCCTTGAGTGATCTTAGCAGTTCTCACGGAGAGGCCAAGTAGAATGATAGTGGATCAGAGGGGCAGGTGAGACCAGGCGGGCCCAGCCTCAGGCAAGGGAGGTTGTTGAAGGCAGAGGCTGCTGGGTCCTGGGGTGGCAAGAGGTCACTTCAAGACTTGTGTCCCCAGATGCTGAAGAAAAGTTGGACCGGAGCCATGACAAGTCGGACAGGGGCCATGACAAGTCGGACCGCAGCCATGAGAAACTAGACAGGGGCCACGACAAGTCAGACCGGGGCCACGACAAGTCTGACAGGGATCGAGAGCGTGGCTATGACAAGGTAGACAGAGAGAGAGAGCGAGACAGGGAACGGGATCGGGACCGCGGGTATGACAAGGCAGACCGGGAAGAGGGCAAAGAACGGCGCCACCATCGCCGGGAGGAGCTGGCTCCCTATCCCAAGAGCAAGAAGGGTAAGCTGGGCAGAATGGGGCTCGGTGAGACCAACAAGGTGCAGGGTGCACTGCGTGAGGAAGCCTTCCCTCAAAAAGATGCCTGGACCTGGGGCTAGAGGAGGGTGCTGTGGTACATGGCAGCCAGGGGCTTCATTTCTTCTTGTGGGGTGGGGCTCAGTGATCAGGGGATCCTGGTGCCTCTATTGAAGACTTTGCCCTGCCACTTCCACAGCAGTAAGCCGAAAGGATGAAGAGTTAGACCCCATGGACCCTAGCTCATACTCAGACGCCCCCCCGGTAAGTGACAACCCCTCTTGACTCAGTACGTGGACACCATCCTCCGGCCTCCTTCCTCCATTCCTCATTGGGACCAGGTGGGCTGTGTCCGCCACATCACCCATCCCCATCCCCTGACTCTTTCACCGGCAGGGGCACGTGGTCAACAGGACTCCCCAAGCGGAATGAGGCCAAGACTGGCGCTGACACCACAGCAGCTGGGCCCCTCTTCCAGCAGCGGCCGTATCCATCCCCAGGGGCTGTGCTCCGGGCCAATGCAGAGGCCTCCCGAACCAAGCAGCAGGATTGAAGCTTCGGCCTCCCTGGCCCTGGGTTAAAATAAAAGCTTTCTGGTGATCCTGCCCACCATACCTGAGTGCTTCCTTTGAGGCTGCCCAACCCAAGTCGGCAAGATACACAACACATTTTATTTGCAAAAACTCAGCTAAGAGATAGTGTGGAGCTGGCAGGGGCTGGGGGGCTGAGCTGAGGTGGGTCATGAGAGAGCTTAGTCATGTTGGCCCTGGGTGGGGCAGGGGTGGTGGGGACAGGGAGTCCAGTGTCTACCTCACTCTACCCCTAATACTGATCAGAGTTTGGTCCCAGCTGGGCCAAGGGCAAGAAGAGAGAACGAGGCCAGGCCAATGTCTTCAATCCCAGCGGCTAGGAACCCTTCACCTTGGTGAGCAACCTGTGGTGGGAATGGGGAGGAAAGAAAAACACAAAGCTGGGCTAGGCTGGCAGGCGGGTTTCCTGAGCAAGTGAGGGCGGCGGTGGTGAGGCTGGTAGTCCTGGGGTTAGTAATGGTGCCCACCTGGTCAGAAAGCTACACGTGGACTAAATAAATACAACATCTTTATTTGGCATTGGATATCCTGACATTTGTTCATTACAGTTCCTTAAAAAACAAACCAAAAAATCAGAACAAATTAATCAAAAATAAAGATCCAATGGCTCTATTTACATATAGCAAAGACAGCCCAGGCATCTTCCATGCACACACACACCCCGCCCCGATACAGTTAAGGGGTTAATAAGCTTTGGGGAGCGCAGGAGGCAGGTTCCACAGTTCATCAATCCCAAGACACCCCCATGAGGTAGGGGTGCCTCACACAGCCAGACGGATATCAAGAGTATGATTGGTAGCTTTTTCCTCTCCTAGACATCTCCAAAAATAAGCCTACATCTGGCAACTGACAGTGTCTTAAATACAATGAGATTCAGCCACTTCAAGGACCTCCATTTTTCCCACACCCTGGATCATTAATGATATGATTACACCACAAATCCCAAGTCCACTAAAAAAAACAAATGGCCCCTACCACACCTTCTGCCAGAAGGGCTGATGCAAAAATCTTAGCTCTTGTCCCTTTCTCCCTGGGGACTCACAAGAAGCCCATCTTCAAGGTATCAAGGAAGCTGGCCCAAGGCCACACAAAAGACGGAACTAGTAACATGATCCAGAGCGGTGGTAAGGGAGGAGAGAAGGCCTCAAACTATGGGCAACTGAACCCCACAGGTAGGCATCGGTCATTCCTGAAGAGCTGCGGGAGTTTTGTCCAGTGTGTCCTTATGGAGGTGGAGGGACTGCTGGGAGGGACTCTCCCAGACGAGAAACCTCCAGAAGAGGGCACAGGGTCGGGGAGGGAGCAGACAAAAAAAAGGCCTTGAATGACAATACCCCCAACCCTGCCTCCAAAGAGGTTAGAGGGAGCAGAGGCGGCAGCTCTAAAACCCCCTCCAGGGGAAGGGGGTCACCCTACCAGGAAGGGTTCACGTGACACCCAGCTCTAGTCCCACACCCCTCCAGAAGTCTCAGTGACCTGGGAGAAAAGACCATCTCCCAAACCCAGAGGAGCCAGGCCCCGGAGGGTGGCGACTTGGGTCCTGCAGATGCCCAACACCCTCCACCCCAGTCCCCCTCCCTTGTGTCCCCCCATTGCTGCCAGCCCTCACTTCACCAGCACTGACTTTGGCAGAAAGGGCTCCGTGATGAGGTCTCCACGGTGGGAAGACAGCTGCGGTGGTGGTGGCTGCCCGGGAGGCTGCTGGTGAACGCA
|
pathogenic
| 334,072 |
Is the genetic variant on chromosome X, position 48904839, gene SLC35A2 (solute carrier family 35 member A2), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
benign
|
CCCCGGTAAGTGACAACCCCTCTTGACTCAGTACGTGGACACCATCCTCCGGCCTCCTTCCTCCATTCCTCATTGGGACCAGGTGGGCTGTGTCCGCCACATCACCCATCCCCATCCCCTGACTCTTTCACCGGCAGGGGCACGTGGTCAACAGGACTCCCCAAGCGGAATGAGGCCAAGACTGGCGCTGACACCACAGCAGCTGGGCCCCTCTTCCAGCAGCGGCCGTATCCATCCCCAGGGGCTGTGCTCCGGGCCAATGCAGAGGCCTCCCGAACCAAGCAGCAGGATTGAAGCTTCGGCCTCCCTGGCCCTGGGTTAAAATAAAAGCTTTCTGGTGATCCTGCCCACCATACCTGAGTGCTTCCTTTGAGGCTGCCCAACCCAAGTCGGCAAGATACACAACACATTTTATTTGCAAAAACTCAGCTAAGAGATAGTGTGGAGCTGGCAGGGGCTGGGGGGCTGAGCTGAGGTGGGTCATGAGAGAGCTTAGTCATGTTGGCCCTGGGTGGGGCAGGGGTGGTGGGGACAGGGAGTCCAGTGTCTACCTCACTCTACCCCTAATACTGATCAGAGTTTGGTCCCAGCTGGGCCAAGGGCAAGAAGAGAGAACGAGGCCAGGCCAATGTCTTCAATCCCAGCGGCTAGGAACCCTTCACCTTGGTGAGCAACCTGTGGTGGGAATGGGGAGGAAAGAAAAACACAAAGCTGGGCTAGGCTGGCAGGCGGGTTTCCTGAGCAAGTGAGGGCGGCGGTGGTGAGGCTGGTAGTCCTGGGGTTAGTAATGGTGCCCACCTGGTCAGAAAGCTACACGTGGACTAAATAAATACAACATCTTTATTTGGCATTGGATATCCTGACATTTGTTCATTACAGTTCCTTAAAAAACAAACCAAAAAATCAGAACAAATTAATCAAAAATAAAGATCCAATGGCTCTATTTACATATAGCAAAGACAGCCCAGGCATCTTCCATGCACACACACACCCCGCCCCGATACAGTTAAGGGGTTAATAAGCTTTGGGGAGCGCAGGAGGCAGGTTCCACAGTTCATCAATCCCAAGACACCCCCATGAGGTAGGGGTGCCTCACACAGCCAGACGGATATCAAGAGTATGATTGGTAGCTTTTTCCTCTCCTAGACATCTCCAAAAATAAGCCTACATCTGGCAACTGACAGTGTCTTAAATACAATGAGATTCAGCCACTTCAAGGACCTCCATTTTTCCCACACCCTGGATCATTAATGATATGATTACACCACAAATCCCAAGTCCACTAAAAAAAACAAATGGCCCCTACCACACCTTCTGCCAGAAGGGCTGATGCAAAAATCTTAGCTCTTGTCCCTTTCTCCCTGGGGACTCACAAGAAGCCCATCTTCAAGGTATCAAGGAAGCTGGCCCAAGGCCACACAAAAGACGGAACTAGTAACATGATCCAGAGCGGTGGTAAGGGAGGAGAGAAGGCCTCAAACTATGGGCAACTGAACCCCACAGGTAGGCATCGGTCATTCCTGAAGAGCTGCGGGAGTTTTGTCCAGTGTGTCCTTATGGAGGTGGAGGGACTGCTGGGAGGGACTCTCCCAGACGAGAAACCTCCAGAAGAGGGCACAGGGTCGGGGAGGGAGCAGACAAAAAAAAGGCCTTGAATGACAATACCCCCAACCCTGCCTCCAAAGAGGTTAGAGGGAGCAGAGGCGGCAGCTCTAAAACCCCCTCCAGGGGAAGGGGGTCACCCTACCAGGAAGGGTTCACGTGACACCCAGCTCTAGTCCCACACCCCTCCAGAAGTCTCAGTGACCTGGGAGAAAAGACCATCTCCCAAACCCAGAGGAGCCAGGCCCCGGAGGGTGGCGACTTGGGTCCTGCAGATGCCCAACACCCTCCACCCCAGTCCCCCTCCCTTGTGTCCCCCCATTGCTGCCAGCCCTCACTTCACCAGCACTGACTTTGGCAGAAAGGGCTCCGTGATGAGGTCTCCACGGTGGGAAGACAGCTGCGGTGGTGGTGGCTGCCCGGGAGGCTGCTGGTGAACGCAGGGCCCGGAGGCGGAGGCAGAGGCAGAGGCTATGGCTTTGGCTGCACCTCGGGGAAGGCTGTAGAGGTAGACAGCACCAATGACGAGTCCAGCGCCAAGGGCAAATAATGGGTCCACGTGGAAGCCAAAGAGGCGAATGGAGGCAACAGTGGACAGCACAATGGACAGGGAGGTGGCAAAGCCCTTGAGGATATTGTCAGCGTACTTGACAACCACAGCCACCAGTAGCCCGCCGAAGGCCTGGTTGAGCACCACGCCCCAGACAGCAGGTGTGTACCCAAAAAAGAAACCACGGGTGGCCACGGCGGTACCCTCAGCCCACCAGAGCCCCACCAGGCCCAGTGCTGTGCCGAAGAGGCCCAGTTGCAGGTTGCGCAGCCACACGGAGCCTGAGCTGCCTTTGAGGATCTTCTCAAAGTAGACACCTGCGAAGCCGGAGGAGAGACAGGAGGCCACGACGGCTGCCAGGCCTGCCCCAGGGTTCTGATCCAGTGGCCGTGGGCCTCCCCCACCGGCTTGCTGTGCCTGGACAATGGCGACGCCAGTGAAGAGGAGCAGCAGGGAGGCCCACTGCAGCCGGGAAAGGCTGCGATTCAGCATGAGCACGGAGAACAGCGCTGTGGTCAGGATCTTCAGCTGGTATGTCACCTGCGAGTGGCACGTGGAAGGCACTGAGGGCTGACCCTGGCCCCCAACAGGTGCACATGGGGGGCAGCACCCACTGTGGGCCCCCAGGCACAATGGAGGGACAGGGTGGGGGGTATGACAGCAAAAACAGCAAAAGGAGCCAGCCACTGGCCATTGGCTGAGCTGCAGCAAAACAGTTCTGAAGTCTCTCCCAGCAAGTGCACAAAAGGATGGCTGTGCCAAGAAGTCCACATCCCAATCCCATTTCCTGGCTGTGTGACTGGGGACAAAGCACTTGCCCTGTCTGAGCCCTGGCATCATCATCTATAAAAGATGGCTGAGGTATGGAAGTATCTTTGTGATGAGGGACTTGATACAAATGAATCAATAGCCACAACAATGTCAGCAAATACTTACATAGTGCTTACAATATATCAGTGTGGTTCTAGGCACTGCACGTGAATTCATTCATTTAATTCTCACAACACCATTCTGAAGTGAGCACCACTGTAAGCCCCAATTTAAAGGTGAGAAAACTAAGGCACAGAGAGGTTAGGTGACGTGCCCCAAAATCACACAGCTGGAAGGTAGCAGAGCTGAGATTTGAACCCAGACAGCCTGGCCCCAGAATCCAGGCTCTTTAACCATTTCACAAAGCTGCCCACAAATAGCCTAAAGCTTATCTGTCACCAATCAAGGGCTCTTCACAGGTATTATTTCTTTTAAGTATCCTAGCATCTCAGTGAACAGGCATTACTATTTCCACCCCCAATTTTCACAGACGAGAAAAGGGAGGTTGAAGGAGTTCCAAGGACATTCTGAAGGTGACATAGCCCCTGTCCTCTGCAACACCCCCCCACCACGCTATTCCCATACTCCAGTCCCCAACCCAGTTAGTTCCTCTGGGGCCATGCTGGGCTTGGGGCTCACCTGGAAAGTGGCAGCTGGTAGGTTAGAGATGGCAACATACTGGAGGTTATTCTGCAAGGTGTAGATGAGAGAGGGCACTGCGAGCTTGAGCGTGTCCACATACTGCACCAGGACAGCCTCATGGAGGAAGAGAACCAGGTGCTTCACGTTACCTAGGTGGGAGGAGGAGAGCCCTTCTTAGCACTGACAGCCATACATGGGGAACCCCTGAAGGCTGGGAACAGGCCTTGCTCCTGTGACTCCCCCATCCACCCTGCTGTCCAATCCCTGGAGGCTGGAATGAAGTATGTGATCTTGGTTTTCCCTAGAGTACAACCATGTTTCCAGCAAGCTTTTCTGAGACTCAGTTTAATGGCAGCAAAAGAATCAGCCATCCGTGTCTGCTAATCACAGAGCATGTCACTCATGTTAGAGCCTACCTCCCTGGCAGAGAGCCCCATTCAGGGAAAGCACTCAATACTCAATATATTTGTGTACAATGAAATAACCAGCATT
|
CCCCGGTAAGTGACAACCCCTCTTGACTCAGTACGTGGACACCATCCTCCGGCCTCCTTCCTCCATTCCTCATTGGGACCAGGTGGGCTGTGTCCGCCACATCACCCATCCCCATCCCCTGACTCTTTCACCGGCAGGGGCACGTGGTCAACAGGACTCCCCAAGCGGAATGAGGCCAAGACTGGCGCTGACACCACAGCAGCTGGGCCCCTCTTCCAGCAGCGGCCGTATCCATCCCCAGGGGCTGTGCTCCGGGCCAATGCAGAGGCCTCCCGAACCAAGCAGCAGGATTGAAGCTTCGGCCTCCCTGGCCCTGGGTTAAAATAAAAGCTTTCTGGTGATCCTGCCCACCATACCTGAGTGCTTCCTTTGAGGCTGCCCAACCCAAGTCGGCAAGATACACAACACATTTTATTTGCAAAAACTCAGCTAAGAGATAGTGTGGAGCTGGCAGGGGCTGGGGGGCTGAGCTGAGGTGGGTCATGAGAGAGCTTAGTCATGTTGGCCCTGGGTGGGGCAGGGGTGGTGGGGACAGGGAGTCCAGTGTCTACCTCACTCTACCCCTAATACTGATCAGAGTTTGGTCCCAGCTGGGCCAAGGGCAAGAAGAGAGAACGAGGCCAGGCCAATGTCTTCAATCCCAGCGGCTAGGAACCCTTCACCTTGGTGAGCAACCTGTGGTGGGAATGGGGAGGAAAGAAAAACACAAAGCTGGGCTAGGCTGGCAGGCGGGTTTCCTGAGCAAGTGAGGGCGGCGGTGGTGAGGCTGGTAGTCCTGGGGTTAGTAATGGTGCCCACCTGGTCAGAAAGCTACACGTGGACTAAATAAATACAACATCTTTATTTGGCATTGGATATCCTGACATTTGTTCATTACAGTTCCTTAAAAAACAAACCAAAAAATCAGAACAAATTAATCAAAAATAAAGATCCAATGGCTCTATTTACATATAGCAAAGACAGCCCAGGCATCTTCCATGCACACACACACCCCGCCCCGATACAGTTAAGGGGTTAATAAGCTTTGGGGAGCGCAGGAGGCAGGTTCCACAGTTCATCAATCCCAAGACACCCCCATGAGGTAGGGGTGCCTCACACAGCCAGACGGATATCAAGAGTATGATTGGTAGCTTTTTCCTCTCCTAGACATCTCCAAAAATAAGCCTACATCTGGCAACTGACAGTGTCTTAAATACAATGAGATTCAGCCACTTCAAGGACCTCCATTTTTCCCACACCCTGGATCATTAATGATATGATTACACCACAAATCCCAAGTCCACTAAAAAAAACAAATGGCCCCTACCACACCTTCTGCCAGAAGGGCTGATGCAAAAATCTTAGCTCTTGTCCCTTTCTCCCTGGGGACTCACAAGAAGCCCATCTTCAAGGTATCAAGGAAGCTGGCCCAAGGCCACACAAAAGACGGAACTAGTAACATGATCCAGAGCGGTGGTAAGGGAGGAGAGAAGGCCTCAAACTATGGGCAACTGAACCCCACAGGTAGGCATCGGTCATTCCTGAAGAGCTGCGGGAGTTTTGTCCAGTGTGTCCTTATGGAGGTGGAGGGACTGCTGGGAGGGACTCTCCCAGACGAGAAACCTCCAGAAGAGGGCACAGGGTCGGGGAGGGAGCAGACAAAAAAAAGGCCTTGAATGACAATACCCCCAACCCTGCCTCCAAAGAGGTTAGAGGGAGCAGAGGCGGCAGCTCTAAAACCCCCTCCAGGGGAAGGGGGTCACCCTACCAGGAAGGGTTCACGTGACACCCAGCTCTAGTCCCACACCCCTCCAGAAGTCTCAGTGACCTGGGAGAAAAGACCATCTCCCAAACCCAGAGGAGCCAGGCCCCGGAGGGTGGCGACTTGGGTCCTGCAGATGCCCAACACCCTCCACCCCAGTCCCCCTCCCTTGTGTCCCCCCATTGCTGCCAGCCCTCACTTCACCAGCACTGACTTTGGCAGAAAGGGCTCCGTGATGAGGTCTCCACGGTGGGAAGACAGCTGCGGTGGTGGTGGCTGCCCGGGAGGCTGCTGGTGAACGCAGGGCCCGGAGGCAGAGGCAGAGGCTATGGCTTTGGCTGCACCTCGGGGAAGGCTGTAGAGGTAGACAGCACCAATGACGAGTCCAGCGCCAAGGGCAAATAATGGGTCCACGTGGAAGCCAAAGAGGCGAATGGAGGCAACAGTGGACAGCACAATGGACAGGGAGGTGGCAAAGCCCTTGAGGATATTGTCAGCGTACTTGACAACCACAGCCACCAGTAGCCCGCCGAAGGCCTGGTTGAGCACCACGCCCCAGACAGCAGGTGTGTACCCAAAAAAGAAACCACGGGTGGCCACGGCGGTACCCTCAGCCCACCAGAGCCCCACCAGGCCCAGTGCTGTGCCGAAGAGGCCCAGTTGCAGGTTGCGCAGCCACACGGAGCCTGAGCTGCCTTTGAGGATCTTCTCAAAGTAGACACCTGCGAAGCCGGAGGAGAGACAGGAGGCCACGACGGCTGCCAGGCCTGCCCCAGGGTTCTGATCCAGTGGCCGTGGGCCTCCCCCACCGGCTTGCTGTGCCTGGACAATGGCGACGCCAGTGAAGAGGAGCAGCAGGGAGGCCCACTGCAGCCGGGAAAGGCTGCGATTCAGCATGAGCACGGAGAACAGCGCTGTGGTCAGGATCTTCAGCTGGTATGTCACCTGCGAGTGGCACGTGGAAGGCACTGAGGGCTGACCCTGGCCCCCAACAGGTGCACATGGGGGGCAGCACCCACTGTGGGCCCCCAGGCACAATGGAGGGACAGGGTGGGGGGTATGACAGCAAAAACAGCAAAAGGAGCCAGCCACTGGCCATTGGCTGAGCTGCAGCAAAACAGTTCTGAAGTCTCTCCCAGCAAGTGCACAAAAGGATGGCTGTGCCAAGAAGTCCACATCCCAATCCCATTTCCTGGCTGTGTGACTGGGGACAAAGCACTTGCCCTGTCTGAGCCCTGGCATCATCATCTATAAAAGATGGCTGAGGTATGGAAGTATCTTTGTGATGAGGGACTTGATACAAATGAATCAATAGCCACAACAATGTCAGCAAATACTTACATAGTGCTTACAATATATCAGTGTGGTTCTAGGCACTGCACGTGAATTCATTCATTTAATTCTCACAACACCATTCTGAAGTGAGCACCACTGTAAGCCCCAATTTAAAGGTGAGAAAACTAAGGCACAGAGAGGTTAGGTGACGTGCCCCAAAATCACACAGCTGGAAGGTAGCAGAGCTGAGATTTGAACCCAGACAGCCTGGCCCCAGAATCCAGGCTCTTTAACCATTTCACAAAGCTGCCCACAAATAGCCTAAAGCTTATCTGTCACCAATCAAGGGCTCTTCACAGGTATTATTTCTTTTAAGTATCCTAGCATCTCAGTGAACAGGCATTACTATTTCCACCCCCAATTTTCACAGACGAGAAAAGGGAGGTTGAAGGAGTTCCAAGGACATTCTGAAGGTGACATAGCCCCTGTCCTCTGCAACACCCCCCCACCACGCTATTCCCATACTCCAGTCCCCAACCCAGTTAGTTCCTCTGGGGCCATGCTGGGCTTGGGGCTCACCTGGAAAGTGGCAGCTGGTAGGTTAGAGATGGCAACATACTGGAGGTTATTCTGCAAGGTGTAGATGAGAGAGGGCACTGCGAGCTTGAGCGTGTCCACATACTGCACCAGGACAGCCTCATGGAGGAAGAGAACCAGGTGCTTCACGTTACCTAGGTGGGAGGAGGAGAGCCCTTCTTAGCACTGACAGCCATACATGGGGAACCCCTGAAGGCTGGGAACAGGCCTTGCTCCTGTGACTCCCCCATCCACCCTGCTGTCCAATCCCTGGAGGCTGGAATGAAGTATGTGATCTTGGTTTTCCCTAGAGTACAACCATGTTTCCAGCAAGCTTTTCTGAGACTCAGTTTAATGGCAGCAAAAGAATCAGCCATCCGTGTCTGCTAATCACAGAGCATGTCACTCATGTTAGAGCCTACCTCCCTGGCAGAGAGCCCCATTCAGGGAAAGCACTCAATACTCAATATATTTGTGTACAATGAAATAACCAGCATTNNNNNN
|
benign
| 334,081 |
Does the variant impacting SLC35A2 (solute carrier family 35 member A2) on chromosome X, position 48905273, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['SLC35A2-congenital_disorder_of_glycosylation', 'non-lesional_focal_epilepsy']
|
AGATAGTGTGGAGCTGGCAGGGGCTGGGGGGCTGAGCTGAGGTGGGTCATGAGAGAGCTTAGTCATGTTGGCCCTGGGTGGGGCAGGGGTGGTGGGGACAGGGAGTCCAGTGTCTACCTCACTCTACCCCTAATACTGATCAGAGTTTGGTCCCAGCTGGGCCAAGGGCAAGAAGAGAGAACGAGGCCAGGCCAATGTCTTCAATCCCAGCGGCTAGGAACCCTTCACCTTGGTGAGCAACCTGTGGTGGGAATGGGGAGGAAAGAAAAACACAAAGCTGGGCTAGGCTGGCAGGCGGGTTTCCTGAGCAAGTGAGGGCGGCGGTGGTGAGGCTGGTAGTCCTGGGGTTAGTAATGGTGCCCACCTGGTCAGAAAGCTACACGTGGACTAAATAAATACAACATCTTTATTTGGCATTGGATATCCTGACATTTGTTCATTACAGTTCCTTAAAAAACAAACCAAAAAATCAGAACAAATTAATCAAAAATAAAGATCCAATGGCTCTATTTACATATAGCAAAGACAGCCCAGGCATCTTCCATGCACACACACACCCCGCCCCGATACAGTTAAGGGGTTAATAAGCTTTGGGGAGCGCAGGAGGCAGGTTCCACAGTTCATCAATCCCAAGACACCCCCATGAGGTAGGGGTGCCTCACACAGCCAGACGGATATCAAGAGTATGATTGGTAGCTTTTTCCTCTCCTAGACATCTCCAAAAATAAGCCTACATCTGGCAACTGACAGTGTCTTAAATACAATGAGATTCAGCCACTTCAAGGACCTCCATTTTTCCCACACCCTGGATCATTAATGATATGATTACACCACAAATCCCAAGTCCACTAAAAAAAACAAATGGCCCCTACCACACCTTCTGCCAGAAGGGCTGATGCAAAAATCTTAGCTCTTGTCCCTTTCTCCCTGGGGACTCACAAGAAGCCCATCTTCAAGGTATCAAGGAAGCTGGCCCAAGGCCACACAAAAGACGGAACTAGTAACATGATCCAGAGCGGTGGTAAGGGAGGAGAGAAGGCCTCAAACTATGGGCAACTGAACCCCACAGGTAGGCATCGGTCATTCCTGAAGAGCTGCGGGAGTTTTGTCCAGTGTGTCCTTATGGAGGTGGAGGGACTGCTGGGAGGGACTCTCCCAGACGAGAAACCTCCAGAAGAGGGCACAGGGTCGGGGAGGGAGCAGACAAAAAAAAGGCCTTGAATGACAATACCCCCAACCCTGCCTCCAAAGAGGTTAGAGGGAGCAGAGGCGGCAGCTCTAAAACCCCCTCCAGGGGAAGGGGGTCACCCTACCAGGAAGGGTTCACGTGACACCCAGCTCTAGTCCCACACCCCTCCAGAAGTCTCAGTGACCTGGGAGAAAAGACCATCTCCCAAACCCAGAGGAGCCAGGCCCCGGAGGGTGGCGACTTGGGTCCTGCAGATGCCCAACACCCTCCACCCCAGTCCCCCTCCCTTGTGTCCCCCCATTGCTGCCAGCCCTCACTTCACCAGCACTGACTTTGGCAGAAAGGGCTCCGTGATGAGGTCTCCACGGTGGGAAGACAGCTGCGGTGGTGGTGGCTGCCCGGGAGGCTGCTGGTGAACGCAGGGCCCGGAGGCGGAGGCAGAGGCAGAGGCTATGGCTTTGGCTGCACCTCGGGGAAGGCTGTAGAGGTAGACAGCACCAATGACGAGTCCAGCGCCAAGGGCAAATAATGGGTCCACGTGGAAGCCAAAGAGGCGAATGGAGGCAACAGTGGACAGCACAATGGACAGGGAGGTGGCAAAGCCCTTGAGGATATTGTCAGCGTACTTGACAACCACAGCCACCAGTAGCCCGCCGAAGGCCTGGTTGAGCACCACGCCCCAGACAGCAGGTGTGTACCCAAAAAAGAAACCACGGGTGGCCACGGCGGTACCCTCAGCCCACCAGAGCCCCACCAGGCCCAGTGCTGTGCCGAAGAGGCCCAGTTGCAGGTTGCGCAGCCACACGGAGCCTGAGCTGCCTTTGAGGATCTTCTCAAAGTAGACACCTGCGAAGCCGGAGGAGAGACAGGAGGCCACGACGGCTGCCAGGCCTGCCCCAGGGTTCTGATCCAGTGGCCGTGGGCCTCCCCCACCGGCTTGCTGTGCCTGGACAATGGCGACGCCAGTGAAGAGGAGCAGCAGGGAGGCCCACTGCAGCCGGGAAAGGCTGCGATTCAGCATGAGCACGGAGAACAGCGCTGTGGTCAGGATCTTCAGCTGGTATGTCACCTGCGAGTGGCACGTGGAAGGCACTGAGGGCTGACCCTGGCCCCCAACAGGTGCACATGGGGGGCAGCACCCACTGTGGGCCCCCAGGCACAATGGAGGGACAGGGTGGGGGGTATGACAGCAAAAACAGCAAAAGGAGCCAGCCACTGGCCATTGGCTGAGCTGCAGCAAAACAGTTCTGAAGTCTCTCCCAGCAAGTGCACAAAAGGATGGCTGTGCCAAGAAGTCCACATCCCAATCCCATTTCCTGGCTGTGTGACTGGGGACAAAGCACTTGCCCTGTCTGAGCCCTGGCATCATCATCTATAAAAGATGGCTGAGGTATGGAAGTATCTTTGTGATGAGGGACTTGATACAAATGAATCAATAGCCACAACAATGTCAGCAAATACTTACATAGTGCTTACAATATATCAGTGTGGTTCTAGGCACTGCACGTGAATTCATTCATTTAATTCTCACAACACCATTCTGAAGTGAGCACCACTGTAAGCCCCAATTTAAAGGTGAGAAAACTAAGGCACAGAGAGGTTAGGTGACGTGCCCCAAAATCACACAGCTGGAAGGTAGCAGAGCTGAGATTTGAACCCAGACAGCCTGGCCCCAGAATCCAGGCTCTTTAACCATTTCACAAAGCTGCCCACAAATAGCCTAAAGCTTATCTGTCACCAATCAAGGGCTCTTCACAGGTATTATTTCTTTTAAGTATCCTAGCATCTCAGTGAACAGGCATTACTATTTCCACCCCCAATTTTCACAGACGAGAAAAGGGAGGTTGAAGGAGTTCCAAGGACATTCTGAAGGTGACATAGCCCCTGTCCTCTGCAACACCCCCCCACCACGCTATTCCCATACTCCAGTCCCCAACCCAGTTAGTTCCTCTGGGGCCATGCTGGGCTTGGGGCTCACCTGGAAAGTGGCAGCTGGTAGGTTAGAGATGGCAACATACTGGAGGTTATTCTGCAAGGTGTAGATGAGAGAGGGCACTGCGAGCTTGAGCGTGTCCACATACTGCACCAGGACAGCCTCATGGAGGAAGAGAACCAGGTGCTTCACGTTACCTAGGTGGGAGGAGGAGAGCCCTTCTTAGCACTGACAGCCATACATGGGGAACCCCTGAAGGCTGGGAACAGGCCTTGCTCCTGTGACTCCCCCATCCACCCTGCTGTCCAATCCCTGGAGGCTGGAATGAAGTATGTGATCTTGGTTTTCCCTAGAGTACAACCATGTTTCCAGCAAGCTTTTCTGAGACTCAGTTTAATGGCAGCAAAAGAATCAGCCATCCGTGTCTGCTAATCACAGAGCATGTCACTCATGTTAGAGCCTACCTCCCTGGCAGAGAGCCCCATTCAGGGAAAGCACTCAATACTCAATATATTTGTGTACAATGAAATAACCAGCATTAGGCCAGGTGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGCTCATGAGGTTAGGAGTTCAAGACCAGCTGGGCCAACAACACTGAAACCCTATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCGACTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGACCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAAGAAATAACCATCATTAACTTGGAGCTTATGAAATAGAAGCCCTAGGAGCTGGGGTGGAGGGCTGTCTCCCACACAGAAGAGTTTAGTCTAGACTTTTTTTTTTTTTGGCACAGTGGCGCGATCTCGGCT
|
AGATAGTGTGGAGCTGGCAGGGGCTGGGGGGCTGAGCTGAGGTGGGTCATGAGAGAGCTTAGTCATGTTGGCCCTGGGTGGGGCAGGGGTGGTGGGGACAGGGAGTCCAGTGTCTACCTCACTCTACCCCTAATACTGATCAGAGTTTGGTCCCAGCTGGGCCAAGGGCAAGAAGAGAGAACGAGGCCAGGCCAATGTCTTCAATCCCAGCGGCTAGGAACCCTTCACCTTGGTGAGCAACCTGTGGTGGGAATGGGGAGGAAAGAAAAACACAAAGCTGGGCTAGGCTGGCAGGCGGGTTTCCTGAGCAAGTGAGGGCGGCGGTGGTGAGGCTGGTAGTCCTGGGGTTAGTAATGGTGCCCACCTGGTCAGAAAGCTACACGTGGACTAAATAAATACAACATCTTTATTTGGCATTGGATATCCTGACATTTGTTCATTACAGTTCCTTAAAAAACAAACCAAAAAATCAGAACAAATTAATCAAAAATAAAGATCCAATGGCTCTATTTACATATAGCAAAGACAGCCCAGGCATCTTCCATGCACACACACACCCCGCCCCGATACAGTTAAGGGGTTAATAAGCTTTGGGGAGCGCAGGAGGCAGGTTCCACAGTTCATCAATCCCAAGACACCCCCATGAGGTAGGGGTGCCTCACACAGCCAGACGGATATCAAGAGTATGATTGGTAGCTTTTTCCTCTCCTAGACATCTCCAAAAATAAGCCTACATCTGGCAACTGACAGTGTCTTAAATACAATGAGATTCAGCCACTTCAAGGACCTCCATTTTTCCCACACCCTGGATCATTAATGATATGATTACACCACAAATCCCAAGTCCACTAAAAAAAACAAATGGCCCCTACCACACCTTCTGCCAGAAGGGCTGATGCAAAAATCTTAGCTCTTGTCCCTTTCTCCCTGGGGACTCACAAGAAGCCCATCTTCAAGGTATCAAGGAAGCTGGCCCAAGGCCACACAAAAGACGGAACTAGTAACATGATCCAGAGCGGTGGTAAGGGAGGAGAGAAGGCCTCAAACTATGGGCAACTGAACCCCACAGGTAGGCATCGGTCATTCCTGAAGAGCTGCGGGAGTTTTGTCCAGTGTGTCCTTATGGAGGTGGAGGGACTGCTGGGAGGGACTCTCCCAGACGAGAAACCTCCAGAAGAGGGCACAGGGTCGGGGAGGGAGCAGACAAAAAAAAGGCCTTGAATGACAATACCCCCAACCCTGCCTCCAAAGAGGTTAGAGGGAGCAGAGGCGGCAGCTCTAAAACCCCCTCCAGGGGAAGGGGGTCACCCTACCAGGAAGGGTTCACGTGACACCCAGCTCTAGTCCCACACCCCTCCAGAAGTCTCAGTGACCTGGGAGAAAAGACCATCTCCCAAACCCAGAGGAGCCAGGCCCCGGAGGGTGGCGACTTGGGTCCTGCAGATGCCCAACACCCTCCACCCCAGTCCCCCTCCCTTGTGTCCCCCCATTGCTGCCAGCCCTCACTTCACCAGCACTGACTTTGGCAGAAAGGGCTCCGTGATGAGGTCTCCACGGTGGGAAGACAGCTGCGGTGGTGGTGGCTGCCCGGGAGGCTGCTGGTGAACGCAGGGCCCGGAGGCGGAGGCAGAGGCAGAGGCTATGGCTTTGGCTGCACCTCGGGGAAGGCTGTAGAGGTAGACAGCACCAATGACGAGTCCAGCGCCAAGGGCAAATAATGGGTCCACGTGGAAGCCAAAGAGGCGAATGGAGGCAACAGTGGACAGCACAATGGACAGGGAGGTGGCAAAGCCCTTGAGGATATTGTCAGCGTACTTGACAACCACAGCCACCAGTAGCCCGCCGAAGGCCTGGTTGAGCACCACGCCCCAGACAGCAGGTGTGTACCCAAAAAAGAAACCACGGGTGGCCACGGCGGTACCCTCAGCCCACCAGAGCCCCACCAGGCCCAGTGCTGTGCCGAAGAGGCCCAGTTGCAGGTTGCGCAGCCACACGGAGCCTGAGCTGCCTTTGAGGATCTTCTCAAAGTAGACACCTGCGAAGCCGGAGGAGACAGGAGGCCACGACGGCTGCCAGGCCTGCCCCAGGGTTCTGATCCAGTGGCCGTGGGCCTCCCCCACCGGCTTGCTGTGCCTGGACAATGGCGACGCCAGTGAAGAGGAGCAGCAGGGAGGCCCACTGCAGCCGGGAAAGGCTGCGATTCAGCATGAGCACGGAGAACAGCGCTGTGGTCAGGATCTTCAGCTGGTATGTCACCTGCGAGTGGCACGTGGAAGGCACTGAGGGCTGACCCTGGCCCCCAACAGGTGCACATGGGGGGCAGCACCCACTGTGGGCCCCCAGGCACAATGGAGGGACAGGGTGGGGGGTATGACAGCAAAAACAGCAAAAGGAGCCAGCCACTGGCCATTGGCTGAGCTGCAGCAAAACAGTTCTGAAGTCTCTCCCAGCAAGTGCACAAAAGGATGGCTGTGCCAAGAAGTCCACATCCCAATCCCATTTCCTGGCTGTGTGACTGGGGACAAAGCACTTGCCCTGTCTGAGCCCTGGCATCATCATCTATAAAAGATGGCTGAGGTATGGAAGTATCTTTGTGATGAGGGACTTGATACAAATGAATCAATAGCCACAACAATGTCAGCAAATACTTACATAGTGCTTACAATATATCAGTGTGGTTCTAGGCACTGCACGTGAATTCATTCATTTAATTCTCACAACACCATTCTGAAGTGAGCACCACTGTAAGCCCCAATTTAAAGGTGAGAAAACTAAGGCACAGAGAGGTTAGGTGACGTGCCCCAAAATCACACAGCTGGAAGGTAGCAGAGCTGAGATTTGAACCCAGACAGCCTGGCCCCAGAATCCAGGCTCTTTAACCATTTCACAAAGCTGCCCACAAATAGCCTAAAGCTTATCTGTCACCAATCAAGGGCTCTTCACAGGTATTATTTCTTTTAAGTATCCTAGCATCTCAGTGAACAGGCATTACTATTTCCACCCCCAATTTTCACAGACGAGAAAAGGGAGGTTGAAGGAGTTCCAAGGACATTCTGAAGGTGACATAGCCCCTGTCCTCTGCAACACCCCCCCACCACGCTATTCCCATACTCCAGTCCCCAACCCAGTTAGTTCCTCTGGGGCCATGCTGGGCTTGGGGCTCACCTGGAAAGTGGCAGCTGGTAGGTTAGAGATGGCAACATACTGGAGGTTATTCTGCAAGGTGTAGATGAGAGAGGGCACTGCGAGCTTGAGCGTGTCCACATACTGCACCAGGACAGCCTCATGGAGGAAGAGAACCAGGTGCTTCACGTTACCTAGGTGGGAGGAGGAGAGCCCTTCTTAGCACTGACAGCCATACATGGGGAACCCCTGAAGGCTGGGAACAGGCCTTGCTCCTGTGACTCCCCCATCCACCCTGCTGTCCAATCCCTGGAGGCTGGAATGAAGTATGTGATCTTGGTTTTCCCTAGAGTACAACCATGTTTCCAGCAAGCTTTTCTGAGACTCAGTTTAATGGCAGCAAAAGAATCAGCCATCCGTGTCTGCTAATCACAGAGCATGTCACTCATGTTAGAGCCTACCTCCCTGGCAGAGAGCCCCATTCAGGGAAAGCACTCAATACTCAATATATTTGTGTACAATGAAATAACCAGCATTAGGCCAGGTGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGCTCATGAGGTTAGGAGTTCAAGACCAGCTGGGCCAACAACACTGAAACCCTATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCGACTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGACCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAAGAAATAACCATCATTAACTTGGAGCTTATGAAATAGAAGCCCTAGGAGCTGGGGTGGAGGGCTGTCTCCCACACAGAAGAGTTTAGTCTAGACTTTTTTTTTTTTTGGCACAGTGGCGCGATCTCGGCTNN
|
pathogenic
| 334,094 |
Benign or pathogenic: chromosome X, position 49074880, gene WDR45 (WD repeat domain 45) variant? Disease(s) if pathogenic?
|
pathogenic; ['Neurodegeneration_with_brain_iron_accumulation_5']
|
CCCCTCCTTTCCTCCTTGTCAATTCCACTGTCCTGTCTTCCTCAGGTCCCCGCTTCAGGCCCTCCCATCCTGCTAGACACTCCCCACACCCCCGGGCTCCCAACACTTCCCTGGACTTTCCTTCCGACTCTGCCCCCGTAGGGCCCCTCATCAGCCTGCCCGCAAGCTCCCCCTTTAACACCAGCCCCTGCAAATCCCTCTTTCAGGCCTTCTGTCTTCACACGTTCCCCTCTCCCCAGGCCTAGGGTCCTTATAGAACCGCCCTCCAGGCTCCCATTTCCCTATAGATTCCTCCCTCCATCATTGCTAGGACCTCTTCCAGGTCGTCAGCCCCACTCTGAACTTTCAGCACTGCTCAAGTCCTTCCTCCAGATTCTCCATCCCTCTCTGGTCTCAGGCTTTCCAACCATGGATCCTCCTCCTGGGCCCAAGTTCCCCAACAGGTACCTGCCCCTGGCGCCTTCCAATCATAGCCAGGCTCCCCTCCAAGACCGGATCCCCAATAAATACATCTTCCAAACCCTCCAACTTTACCGTCTATTTCCCGGTCTCTGCCCTAAGTACTCCAGGGTCGGCCTCAATCTGGCCCCATCATTCACATCACACCCCCCCTACGCCCCTCAAGTACTCTCATGTCCCCCTTTCGGGCCCTCCTTTTTTTCCGGTTCACCTTCCAGCCCACTTTCCCCTTCAGTCCCACACTTGTCTCCATCCTCCCCATATCTTCCTTGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGGGCGCGTAGCGGTGGCAGCCGCACCTCCGACATCCTGCCGGTTAATGTGGCTGGACCAGCCAGGAGGGGGCCGGACTACAACAACCGTTACGCCCCTCGCCACCGCGGGGCACACCGGGAAATGGAGTCTGGGCTGGGCAGCTTTTTCCTAACCTCCTAGGTGGATTGCGCAGGGGCGGCGATGCACGTGACCGGAAAAGCAACTAACACGCCGCTCAGGAAAGCAGCAAAGGCTGCCGGGAAATCAAGCCTTTGCCACGAAGCGAGATGCTCCCAACCCTTAAAACTGCCATCCACCCCCGCGCGGGGCGCCGCAGGGGCTGCTCCGGGCGGTGCCAGCGGCTCAAGCACAAAGTAGCCAGACAGATAAGAAAGGAGGGACTGTCACAAGGATCCGAGTTGGATTCCACCTCCTTCCTGTCAGCGCCCAAGAGGGTCACATTTCTCCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAG
|
CCCCTCCTTTCCTCCTTGTCAATTCCACTGTCCTGTCTTCCTCAGGTCCCCGCTTCAGGCCCTCCCATCCTGCTAGACACTCCCCACACCCCCGGGCTCCCAACACTTCCCTGGACTTTCCTTCCGACTCTGCCCCCGTAGGGCCCCTCATCAGCCTGCCCGCAAGCTCCCCCTTTAACACCAGCCCCTGCAAATCCCTCTTTCAGGCCTTCTGTCTTCACACGTTCCCCTCTCCCCAGGCCTAGGGTCCTTATAGAACCGCCCTCCAGGCTCCCATTTCCCTATAGATTCCTCCCTCCATCATTGCTAGGACCTCTTCCAGGTCGTCAGCCCCACTCTGAACTTTCAGCACTGCTCAAGTCCTTCCTCCAGATTCTCCATCCCTCTCTGGTCTCAGGCTTTCCAACCATGGATCCTCCTCCTGGGCCCAAGTTCCCCAACAGGTACCTGCCCCTGGCGCCTTCCAATCATAGCCAGGCTCCCCTCCAAGACCGGATCCCCAATAAATACATCTTCCAAACCCTCCAACTTTACCGTCTATTTCCCGGTCTCTGCCCTAAGTACTCCAGGGTCGGCCTCAATCTGGCCCCATCATTCACATCACACCCCCCCTACGCCCCTCAAGTACTCTCATGTCCCCCTTTCGGGCCCTCCTTTTTTTCCGGTTCACCTTCCAGCCCACTTTCCCCTTCAGTCCCACACTTGTCTCCATCCTCCCCATATCTTCCTTGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGGGCGCGTAGCGGTGGCAGCCGCACCTCCGACATCCTGCCGGTTAATGTGGCTGGACCAGCCAGGAGGGGGCCGGACTACAACAACCGTTACGCCCCTCGCCACCGCGGGGCACACCGGGAAATGGAGTCTGGGCTGGGCAGCTTTTTCCTAACCTCCTAGGTGGATTGCGCAGGGGCGGCGATGCACGTGACCGGAAAAGCAACTAACACGCCGCTCAGGAAAGCAGCAAAGGCTGCCGGGAAATCAAGCCTTTGCCACGAAGCGAGATGCTCCCAACCCTTAAAACTGCCATCCACCCCCGCGCGGGGCGCCGCAGGGGCTGCTCCGGGCGGTGCCAGCGGCTCAAGCACAAAGTAGCCAGACAGATAAGAAAGGAGGGACTGTCACAAGGATCCGAGTTGGATTCCACCTCCTTCCTGTCAGCGCCCAAGAGGGTCACATTTCTCCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGNN
|
pathogenic
| 334,118 |
Is the genetic mutation found on chromosome X at position 49075140, within the gene WDR45 (WD repeat domain 45), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Neurodegeneration_with_brain_iron_accumulation_5']
|
GCCCTCCAGGCTCCCATTTCCCTATAGATTCCTCCCTCCATCATTGCTAGGACCTCTTCCAGGTCGTCAGCCCCACTCTGAACTTTCAGCACTGCTCAAGTCCTTCCTCCAGATTCTCCATCCCTCTCTGGTCTCAGGCTTTCCAACCATGGATCCTCCTCCTGGGCCCAAGTTCCCCAACAGGTACCTGCCCCTGGCGCCTTCCAATCATAGCCAGGCTCCCCTCCAAGACCGGATCCCCAATAAATACATCTTCCAAACCCTCCAACTTTACCGTCTATTTCCCGGTCTCTGCCCTAAGTACTCCAGGGTCGGCCTCAATCTGGCCCCATCATTCACATCACACCCCCCCTACGCCCCTCAAGTACTCTCATGTCCCCCTTTCGGGCCCTCCTTTTTTTCCGGTTCACCTTCCAGCCCACTTTCCCCTTCAGTCCCACACTTGTCTCCATCCTCCCCATATCTTCCTTGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGGGCGCGTAGCGGTGGCAGCCGCACCTCCGACATCCTGCCGGTTAATGTGGCTGGACCAGCCAGGAGGGGGCCGGACTACAACAACCGTTACGCCCCTCGCCACCGCGGGGCACACCGGGAAATGGAGTCTGGGCTGGGCAGCTTTTTCCTAACCTCCTAGGTGGATTGCGCAGGGGCGGCGATGCACGTGACCGGAAAAGCAACTAACACGCCGCTCAGGAAAGCAGCAAAGGCTGCCGGGAAATCAAGCCTTTGCCACGAAGCGAGATGCTCCCAACCCTTAAAACTGCCATCCACCCCCGCGCGGGGCGCCGCAGGGGCTGCTCCGGGCGGTGCCAGCGGCTCAAGCACAAAGTAGCCAGACAGATAAGAAAGGAGGGACTGTCACAAGGATCCGAGTTGGATTCCACCTCCTTCCTGTCAGCGCCCAAGAGGGTCACATTTCTCCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTA
|
GCCCTCCAGGCTCCCATTTCCCTATAGATTCCTCCCTCCATCATTGCTAGGACCTCTTCCAGGTCGTCAGCCCCACTCTGAACTTTCAGCACTGCTCAAGTCCTTCCTCCAGATTCTCCATCCCTCTCTGGTCTCAGGCTTTCCAACCATGGATCCTCCTCCTGGGCCCAAGTTCCCCAACAGGTACCTGCCCCTGGCGCCTTCCAATCATAGCCAGGCTCCCCTCCAAGACCGGATCCCCAATAAATACATCTTCCAAACCCTCCAACTTTACCGTCTATTTCCCGGTCTCTGCCCTAAGTACTCCAGGGTCGGCCTCAATCTGGCCCCATCATTCACATCACACCCCCCCTACGCCCCTCAAGTACTCTCATGTCCCCCTTTCGGGCCCTCCTTTTTTTCCGGTTCACCTTCCAGCCCACTTTCCCCTTCAGTCCCACACTTGTCTCCATCCTCCCCATATCTTCCTTGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGGGCGCGTAGCGGTGGCAGCCGCACCTCCGACATCCTGCCGGTTAATGTGGCTGGACCAGCCAGGAGGGGGCCGGACTACAACAACCGTTACGCCCCTCGCCACCGCGGGGCACACCGGGAAATGGAGTCTGGGCTGGGCAGCTTTTTCCTAACCTCCTAGGTGGATTGCGCAGGGGCGGCGATGCACGTGACCGGAAAAGCAACTAACACGCCGCTCAGGAAAGCAGCAAAGGCTGCCGGGAAATCAAGCCTTTGCCACGAAGCGAGATGCTCCCAACCCTTAAAACTGCCATCCACCCCCGCGCGGGGCGCCGCAGGGGCTGCTCCGGGCGGTGCCAGCGGCTCAAGCACAAAGTAGCCAGACAGATAAGAAAGGAGGGACTGTCACAAGGATCCGAGTTGGATTCCACCTCCTTCCTGTCAGCGCCCAAGAGGGTCACATTTCTCCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTANN
|
pathogenic
| 334,122 |
Does the chromosome X mutation at position 49075142 within gene WDR45 (WD repeat domain 45) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Neurodegeneration_with_brain_iron_accumulation_5']
|
CCTCCAGGCTCCCATTTCCCTATAGATTCCTCCCTCCATCATTGCTAGGACCTCTTCCAGGTCGTCAGCCCCACTCTGAACTTTCAGCACTGCTCAAGTCCTTCCTCCAGATTCTCCATCCCTCTCTGGTCTCAGGCTTTCCAACCATGGATCCTCCTCCTGGGCCCAAGTTCCCCAACAGGTACCTGCCCCTGGCGCCTTCCAATCATAGCCAGGCTCCCCTCCAAGACCGGATCCCCAATAAATACATCTTCCAAACCCTCCAACTTTACCGTCTATTTCCCGGTCTCTGCCCTAAGTACTCCAGGGTCGGCCTCAATCTGGCCCCATCATTCACATCACACCCCCCCTACGCCCCTCAAGTACTCTCATGTCCCCCTTTCGGGCCCTCCTTTTTTTCCGGTTCACCTTCCAGCCCACTTTCCCCTTCAGTCCCACACTTGTCTCCATCCTCCCCATATCTTCCTTGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGGGCGCGTAGCGGTGGCAGCCGCACCTCCGACATCCTGCCGGTTAATGTGGCTGGACCAGCCAGGAGGGGGCCGGACTACAACAACCGTTACGCCCCTCGCCACCGCGGGGCACACCGGGAAATGGAGTCTGGGCTGGGCAGCTTTTTCCTAACCTCCTAGGTGGATTGCGCAGGGGCGGCGATGCACGTGACCGGAAAAGCAACTAACACGCCGCTCAGGAAAGCAGCAAAGGCTGCCGGGAAATCAAGCCTTTGCCACGAAGCGAGATGCTCCCAACCCTTAAAACTGCCATCCACCCCCGCGCGGGGCGCCGCAGGGGCTGCTCCGGGCGGTGCCAGCGGCTCAAGCACAAAGTAGCCAGACAGATAAGAAAGGAGGGACTGTCACAAGGATCCGAGTTGGATTCCACCTCCTTCCTGTCAGCGCCCAAGAGGGTCACATTTCTCCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAAA
|
CCTCCAGGCTCCCATTTCCCTATAGATTCCTCCCTCCATCATTGCTAGGACCTCTTCCAGGTCGTCAGCCCCACTCTGAACTTTCAGCACTGCTCAAGTCCTTCCTCCAGATTCTCCATCCCTCTCTGGTCTCAGGCTTTCCAACCATGGATCCTCCTCCTGGGCCCAAGTTCCCCAACAGGTACCTGCCCCTGGCGCCTTCCAATCATAGCCAGGCTCCCCTCCAAGACCGGATCCCCAATAAATACATCTTCCAAACCCTCCAACTTTACCGTCTATTTCCCGGTCTCTGCCCTAAGTACTCCAGGGTCGGCCTCAATCTGGCCCCATCATTCACATCACACCCCCCCTACGCCCCTCAAGTACTCTCATGTCCCCCTTTCGGGCCCTCCTTTTTTTCCGGTTCACCTTCCAGCCCACTTTCCCCTTCAGTCCCACACTTGTCTCCATCCTCCCCATATCTTCCTTGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGGGCGCGTAGCGGTGGCAGCCGCACCTCCGACATCCTGCCGGTTAATGTGGCTGGACCAGCCAGGAGGGGGCCGGACTACAACAACCGTTACGCCCCTCGCCACCGCGGGGCACACCGGGAAATGGAGTCTGGGCTGGGCAGCTTTTTCCTAACCTCCTAGGTGGATTGCGCAGGGGCGGCGATGCACGTGACCGGAAAAGCAACTAACACGCCGCTCAGGAAAGCAGCAAAGGCTGCCGGGAAATCAAGCCTTTGCCACGAAGCGAGATGCTCCCAACCCTTAAAACTGCCATCCACCCCCGCGCGGGGCGCCGCAGGGGCTGCTCCGGGCGGTGCCAGCGGCTCAAGCACAAAGTAGCCAGACAGATAAGAAAGGAGGGACTGTCACAAGGATCCGAGTTGGATTCCACCTCCTTCCTGTCAGCGCCCAAGAGGGTCACATTTCTCCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAA
|
pathogenic
| 334,123 |
Located at chromosome X position 49075228, the variant affecting gene WDR45 (WD repeat domain 45)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Inborn_genetic_diseases', 'Neurodegeneration_with_brain_iron_accumulation_5']
|
GCACTGCTCAAGTCCTTCCTCCAGATTCTCCATCCCTCTCTGGTCTCAGGCTTTCCAACCATGGATCCTCCTCCTGGGCCCAAGTTCCCCAACAGGTACCTGCCCCTGGCGCCTTCCAATCATAGCCAGGCTCCCCTCCAAGACCGGATCCCCAATAAATACATCTTCCAAACCCTCCAACTTTACCGTCTATTTCCCGGTCTCTGCCCTAAGTACTCCAGGGTCGGCCTCAATCTGGCCCCATCATTCACATCACACCCCCCCTACGCCCCTCAAGTACTCTCATGTCCCCCTTTCGGGCCCTCCTTTTTTTCCGGTTCACCTTCCAGCCCACTTTCCCCTTCAGTCCCACACTTGTCTCCATCCTCCCCATATCTTCCTTGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGGGCGCGTAGCGGTGGCAGCCGCACCTCCGACATCCTGCCGGTTAATGTGGCTGGACCAGCCAGGAGGGGGCCGGACTACAACAACCGTTACGCCCCTCGCCACCGCGGGGCACACCGGGAAATGGAGTCTGGGCTGGGCAGCTTTTTCCTAACCTCCTAGGTGGATTGCGCAGGGGCGGCGATGCACGTGACCGGAAAAGCAACTAACACGCCGCTCAGGAAAGCAGCAAAGGCTGCCGGGAAATCAAGCCTTTGCCACGAAGCGAGATGCTCCCAACCCTTAAAACTGCCATCCACCCCCGCGCGGGGCGCCGCAGGGGCTGCTCCGGGCGGTGCCAGCGGCTCAAGCACAAAGTAGCCAGACAGATAAGAAAGGAGGGACTGTCACAAGGATCCGAGTTGGATTCCACCTCCTTCCTGTCAGCGCCCAAGAGGGTCACATTTCTCCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAAAGTAAGATGGCACTTGAGGCTCAAGCCAAGGGGGTATTGGGAAGACGGCTCCAAGATTTTAAAACCTATTGCTTGTGTGACCTTGGA
|
GCACTGCTCAAGTCCTTCCTCCAGATTCTCCATCCCTCTCTGGTCTCAGGCTTTCCAACCATGGATCCTCCTCCTGGGCCCAAGTTCCCCAACAGGTACCTGCCCCTGGCGCCTTCCAATCATAGCCAGGCTCCCCTCCAAGACCGGATCCCCAATAAATACATCTTCCAAACCCTCCAACTTTACCGTCTATTTCCCGGTCTCTGCCCTAAGTACTCCAGGGTCGGCCTCAATCTGGCCCCATCATTCACATCACACCCCCCCTACGCCCCTCAAGTACTCTCATGTCCCCCTTTCGGGCCCTCCTTTTTTTCCGGTTCACCTTCCAGCCCACTTTCCCCTTCAGTCCCACACTTGTCTCCATCCTCCCCATATCTTCCTTGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGGGCGCGTAGCGGTGGCAGCCGCACCTCCGACATCCTGCCGGTTAATGTGGCTGGACCAGCCAGGAGGGGGCCGGACTACAACAACCGTTACGCCCCTCGCCACCGCGGGGCACACCGGGAAATGGAGTCTGGGCTGGGCAGCTTTTTCCTAACCTCCTAGGTGGATTGCGCAGGGGCGGCGATGCACGTGACCGGAAAAGCAACTAACACGCCGCTCAGGAAAGCAGCAAAGGCTGCCGGGAAATCAAGCCTTTGCCACGAAGCGAGATGCTCCCAACCCTTAAAACTGCCATCCACCCCCGCGCGGGGCGCCGCAGGGGCTGCTCCGGGCGGTGCCAGCGGCTCAAGCACAAAGTAGCCAGACAGATAAGAAAGGAGGGACTGTCACAAGGATCCGAGTTGGATTCCACCTCCTTCCTGTCAGCGCCCAAGAGGGTCACATTTCTCCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAAAGTAAGATGGCACTTGAGGCTCAAGCCAAGGGGGTATTGGGAAGACGGCTCCAAGATTTTAAAACCTATTGCTTGTGTGACCTTGGANN
|
pathogenic
| 334,128 |
Clinical significance of chromosome X, position 49075351, gene WDR45 (WD repeat domain 45): benign or pathogenic? Name the disease(s) if pathogenic.
|
benign
|
AGCCAGGCTCCCCTCCAAGACCGGATCCCCAATAAATACATCTTCCAAACCCTCCAACTTTACCGTCTATTTCCCGGTCTCTGCCCTAAGTACTCCAGGGTCGGCCTCAATCTGGCCCCATCATTCACATCACACCCCCCCTACGCCCCTCAAGTACTCTCATGTCCCCCTTTCGGGCCCTCCTTTTTTTCCGGTTCACCTTCCAGCCCACTTTCCCCTTCAGTCCCACACTTGTCTCCATCCTCCCCATATCTTCCTTGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGGGCGCGTAGCGGTGGCAGCCGCACCTCCGACATCCTGCCGGTTAATGTGGCTGGACCAGCCAGGAGGGGGCCGGACTACAACAACCGTTACGCCCCTCGCCACCGCGGGGCACACCGGGAAATGGAGTCTGGGCTGGGCAGCTTTTTCCTAACCTCCTAGGTGGATTGCGCAGGGGCGGCGATGCACGTGACCGGAAAAGCAACTAACACGCCGCTCAGGAAAGCAGCAAAGGCTGCCGGGAAATCAAGCCTTTGCCACGAAGCGAGATGCTCCCAACCCTTAAAACTGCCATCCACCCCCGCGCGGGGCGCCGCAGGGGCTGCTCCGGGCGGTGCCAGCGGCTCAAGCACAAAGTAGCCAGACAGATAAGAAAGGAGGGACTGTCACAAGGATCCGAGTTGGATTCCACCTCCTTCCTGTCAGCGCCCAAGAGGGTCACATTTCTCCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAAAGTAAGATGGCACTTGAGGCTCAAGCCAAGGGGGTATTGGGAAGACGGCTCCAAGATTTTAAAACCTATTGCTTGTGTGACCTTGGATGAGTCACTTAACTGCACTGGGCCTCAGTTTCCTCATCGGTAAAGATGGGGATAATGATCCTTCCTACCCCATAGAGTTACTGTGAGGATTAAATGAGTTAATAAACGTAAAGTGCTTAGGGC
|
AGCCAGGCTCCCCTCCAAGACCGGATCCCCAATAAATACATCTTCCAAACCCTCCAACTTTACCGTCTATTTCCCGGTCTCTGCCCTAAGTACTCCAGGGTCGGCCTCAATCTGGCCCCATCATTCACATCACACCCCCCCTACGCCCCTCAAGTACTCTCATGTCCCCCTTTCGGGCCCTCCTTTTTTTCCGGTTCACCTTCCAGCCCACTTTCCCCTTCAGTCCCACACTTGTCTCCATCCTCCCCATATCTTCCTTGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGGGCGCGTAGCGGTGGCAGCCGCACCTCCGACATCCTGCCGGTTAATGTGGCTGGACCAGCCAGGAGGGGGCCGGACTACAACAACCGTTACGCCCCTCGCCACCGCGGGGCACACCGGGAAATGGAGTCTGGGCTGGGCAGCTTTTTCCTAACCTCCTAGGTGGATTGCGCAGGGGCGGCGATGCACGTGACCGGAAAAGCAACTAACACGCCGCTCAGGAAAGCAGCAAAGGCTGCCGGGAAATCAAGCCTTTGCCACGAAGCGAGATGCTCCCAACCCTTAAAACTGCCATCCACCCCCGCGCGGGGCGCCGCAGGGGCTGCTCCGGGCGGTGCCAGCGGCTCAAGCACAAAGTAGCCAGACAGATAAGAAAGGAGGGACTGTCACAAGGATCCGAGTTGGATTCCACCTCCTTCCTGTCAGCGCCCAAGAGGGTCACATTTCTCCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAAAGTAAGATGGCACTTGAGGCTCAAGCCAAGGGGGTATTGGGAAGACGGCTCCAAGATTTTAAAACCTATTGCTTGTGTGACCTTGGATGAGTCACTTAACTGCACTGGGCCTCAGTTTCCTCATCGGTAAAGATGGGGATAATGATCCTTCCTACCCCATAGAGTTACTGTGAGGATTAAATGAGTTAATAAACGTAAAGTGCTTAGGGCN
|
benign
| 334,134 |
For chromosome X, position 49075396, gene WDR45 (WD repeat domain 45): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic
|
CAAACCCTCCAACTTTACCGTCTATTTCCCGGTCTCTGCCCTAAGTACTCCAGGGTCGGCCTCAATCTGGCCCCATCATTCACATCACACCCCCCCTACGCCCCTCAAGTACTCTCATGTCCCCCTTTCGGGCCCTCCTTTTTTTCCGGTTCACCTTCCAGCCCACTTTCCCCTTCAGTCCCACACTTGTCTCCATCCTCCCCATATCTTCCTTGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGGGCGCGTAGCGGTGGCAGCCGCACCTCCGACATCCTGCCGGTTAATGTGGCTGGACCAGCCAGGAGGGGGCCGGACTACAACAACCGTTACGCCCCTCGCCACCGCGGGGCACACCGGGAAATGGAGTCTGGGCTGGGCAGCTTTTTCCTAACCTCCTAGGTGGATTGCGCAGGGGCGGCGATGCACGTGACCGGAAAAGCAACTAACACGCCGCTCAGGAAAGCAGCAAAGGCTGCCGGGAAATCAAGCCTTTGCCACGAAGCGAGATGCTCCCAACCCTTAAAACTGCCATCCACCCCCGCGCGGGGCGCCGCAGGGGCTGCTCCGGGCGGTGCCAGCGGCTCAAGCACAAAGTAGCCAGACAGATAAGAAAGGAGGGACTGTCACAAGGATCCGAGTTGGATTCCACCTCCTTCCTGTCAGCGCCCAAGAGGGTCACATTTCTCCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAAAGTAAGATGGCACTTGAGGCTCAAGCCAAGGGGGTATTGGGAAGACGGCTCCAAGATTTTAAAACCTATTGCTTGTGTGACCTTGGATGAGTCACTTAACTGCACTGGGCCTCAGTTTCCTCATCGGTAAAGATGGGGATAATGATCCTTCCTACCCCATAGAGTTACTGTGAGGATTAAATGAGTTAATAAACGTAAAGTGCTTAGGGCAGTTCCAGGCTCACAGTAAGTGCTCTAGGGCATGGCACACAGGAG
|
CAAACCCTCCAACTTTACCGTCTATTTCCCGGTCTCTGCCCTAAGTACTCCAGGGTCGGCCTCAATCTGGCCCCATCATTCACATCACACCCCCCCTACGCCCCTCAAGTACTCTCATGTCCCCCTTTCGGGCCCTCCTTTTTTTCCGGTTCACCTTCCAGCCCACTTTCCCCTTCAGTCCCACACTTGTCTCCATCCTCCCCATATCTTCCTTGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGGGCGCGTAGCGGTGGCAGCCGCACCTCCGACATCCTGCCGGTTAATGTGGCTGGACCAGCCAGGAGGGGGCCGGACTACAACAACCGTTACGCCCCTCGCCACCGCGGGGCACACCGGGAAATGGAGTCTGGGCTGGGCAGCTTTTTCCTAACCTCCTAGGTGGATTGCGCAGGGGCGGCGATGCACGTGACCGGAAAAGCAACTAACACGCCGCTCAGGAAAGCAGCAAAGGCTGCCGGGAAATCAAGCCTTTGCCACGAAGCGAGATGCTCCCAACCCTTAAAACTGCCATCCACCCCCGCGCGGGGCGCCGCAGGGGCTGCTCCGGGCGGTGCCAGCGGCTCAAGCACAAAGTAGCCAGACAGATAAGAAAGGAGGGACTGTCACAAGGATCCGAGTTGGATTCCACCTCCTTCCTGTCAGCGCCCAAGAGGGTCACATTTCTCCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAAAGTAAGATGGCACTTGAGGCTCAAGCCAAGGGGGTATTGGGAAGACGGCTCCAAGATTTTAAAACCTATTGCTTGTGTGACCTTGGATGAGTCACTTAACTGCACTGGGCCTCAGTTTCCTCATCGGTAAAGATGGGGATAATGATCCTTCCTACCCCATAGAGTTACTGTGAGGATTAAATGAGTTAATAAACGTAAAGTGCTTAGGGCAGTTCCAGGCTCACAGTAAGTGCTCTAGGGCATGGCACACAGGAGNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 334,141 |
Gene mutation in WDR45 (WD repeat domain 45) at chromosome X, position 49075439—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Inborn_genetic_diseases', 'Neurodegeneration_with_brain_iron_accumulation_5']
|
AGTACTCCAGGGTCGGCCTCAATCTGGCCCCATCATTCACATCACACCCCCCCTACGCCCCTCAAGTACTCTCATGTCCCCCTTTCGGGCCCTCCTTTTTTTCCGGTTCACCTTCCAGCCCACTTTCCCCTTCAGTCCCACACTTGTCTCCATCCTCCCCATATCTTCCTTGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGGGCGCGTAGCGGTGGCAGCCGCACCTCCGACATCCTGCCGGTTAATGTGGCTGGACCAGCCAGGAGGGGGCCGGACTACAACAACCGTTACGCCCCTCGCCACCGCGGGGCACACCGGGAAATGGAGTCTGGGCTGGGCAGCTTTTTCCTAACCTCCTAGGTGGATTGCGCAGGGGCGGCGATGCACGTGACCGGAAAAGCAACTAACACGCCGCTCAGGAAAGCAGCAAAGGCTGCCGGGAAATCAAGCCTTTGCCACGAAGCGAGATGCTCCCAACCCTTAAAACTGCCATCCACCCCCGCGCGGGGCGCCGCAGGGGCTGCTCCGGGCGGTGCCAGCGGCTCAAGCACAAAGTAGCCAGACAGATAAGAAAGGAGGGACTGTCACAAGGATCCGAGTTGGATTCCACCTCCTTCCTGTCAGCGCCCAAGAGGGTCACATTTCTCCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAAAGTAAGATGGCACTTGAGGCTCAAGCCAAGGGGGTATTGGGAAGACGGCTCCAAGATTTTAAAACCTATTGCTTGTGTGACCTTGGATGAGTCACTTAACTGCACTGGGCCTCAGTTTCCTCATCGGTAAAGATGGGGATAATGATCCTTCCTACCCCATAGAGTTACTGTGAGGATTAAATGAGTTAATAAACGTAAAGTGCTTAGGGCAGTTCCAGGCTCACAGTAAGTGCTCTAGGGCATGGCACACAGGAGGCACTCAATCAGAATTTTTAAAATGAAAACAAAGCACCAAGCT
|
AGTACTCCAGGGTCGGCCTCAATCTGGCCCCATCATTCACATCACACCCCCCCTACGCCCCTCAAGTACTCTCATGTCCCCCTTTCGGGCCCTCCTTTTTTTCCGGTTCACCTTCCAGCCCACTTTCCCCTTCAGTCCCACACTTGTCTCCATCCTCCCCATATCTTCCTTGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGGGCGCGTAGCGGTGGCAGCCGCACCTCCGACATCCTGCCGGTTAATGTGGCTGGACCAGCCAGGAGGGGGCCGGACTACAACAACCGTTACGCCCCTCGCCACCGCGGGGCACACCGGGAAATGGAGTCTGGGCTGGGCAGCTTTTTCCTAACCTCCTAGGTGGATTGCGCAGGGGCGGCGATGCACGTGACCGGAAAAGCAACTAACACGCCGCTCAGGAAAGCAGCAAAGGCTGCCGGGAAATCAAGCCTTTGCCACGAAGCGAGATGCTCCCAACCCTTAAAACTGCCATCCACCCCCGCGCGGGGCGCCGCAGGGGCTGCTCCGGGCGGTGCCAGCGGCTCAAGCACAAAGTAGCCAGACAGATAAGAAAGGAGGGACTGTCACAAGGATCCGAGTTGGATTCCACCTCCTTCCTGTCAGCGCCCAAGAGGGTCACATTTCTCCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAAAGTAAGATGGCACTTGAGGCTCAAGCCAAGGGGGTATTGGGAAGACGGCTCCAAGATTTTAAAACCTATTGCTTGTGTGACCTTGGATGAGTCACTTAACTGCACTGGGCCTCAGTTTCCTCATCGGTAAAGATGGGGATAATGATCCTTCCTACCCCATAGAGTTACTGTGAGGATTAAATGAGTTAATAAACGTAAAGTGCTTAGGGCAGTTCCAGGCTCACAGTAAGTGCTCTAGGGCATGGCACACAGGAGGCACTCAATCAGAATTTTTAAAATGAAAACAAAGCACCAAGCTNNN
|
pathogenic
| 334,143 |
Is chromosome X, position 49075601, gene WDR45 (WD repeat domain 45) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Neurodegeneration_with_brain_iron_accumulation_5']
|
ATCTTCCTTGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGGGCGCGTAGCGGTGGCAGCCGCACCTCCGACATCCTGCCGGTTAATGTGGCTGGACCAGCCAGGAGGGGGCCGGACTACAACAACCGTTACGCCCCTCGCCACCGCGGGGCACACCGGGAAATGGAGTCTGGGCTGGGCAGCTTTTTCCTAACCTCCTAGGTGGATTGCGCAGGGGCGGCGATGCACGTGACCGGAAAAGCAACTAACACGCCGCTCAGGAAAGCAGCAAAGGCTGCCGGGAAATCAAGCCTTTGCCACGAAGCGAGATGCTCCCAACCCTTAAAACTGCCATCCACCCCCGCGCGGGGCGCCGCAGGGGCTGCTCCGGGCGGTGCCAGCGGCTCAAGCACAAAGTAGCCAGACAGATAAGAAAGGAGGGACTGTCACAAGGATCCGAGTTGGATTCCACCTCCTTCCTGTCAGCGCCCAAGAGGGTCACATTTCTCCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAAAGTAAGATGGCACTTGAGGCTCAAGCCAAGGGGGTATTGGGAAGACGGCTCCAAGATTTTAAAACCTATTGCTTGTGTGACCTTGGATGAGTCACTTAACTGCACTGGGCCTCAGTTTCCTCATCGGTAAAGATGGGGATAATGATCCTTCCTACCCCATAGAGTTACTGTGAGGATTAAATGAGTTAATAAACGTAAAGTGCTTAGGGCAGTTCCAGGCTCACAGTAAGTGCTCTAGGGCATGGCACACAGGAGGCACTCAATCAGAATTTTTAAAATGAAAACAAAGCACCAAGCTTCTCAAGCTATAAGATCCATGACTTCCAAGCTGTAGGCCTCCTCTCTGTGTGACTCTGAAGTACTCTGACGTCTTCATCTGCCAGTACCTTGGGGTGCCTGTGGGAGGCCAGGAATCCGAGAAATCTGGGCCAAAGGGCAGGATGAGGGCACTTACCTGAGA
|
ATCTTCCTTGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGGGCGCGTAGCGGTGGCAGCCGCACCTCCGACATCCTGCCGGTTAATGTGGCTGGACCAGCCAGGAGGGGGCCGGACTACAACAACCGTTACGCCCCTCGCCACCGCGGGGCACACCGGGAAATGGAGTCTGGGCTGGGCAGCTTTTTCCTAACCTCCTAGGTGGATTGCGCAGGGGCGGCGATGCACGTGACCGGAAAAGCAACTAACACGCCGCTCAGGAAAGCAGCAAAGGCTGCCGGGAAATCAAGCCTTTGCCACGAAGCGAGATGCTCCCAACCCTTAAAACTGCCATCCACCCCCGCGCGGGGCGCCGCAGGGGCTGCTCCGGGCGGTGCCAGCGGCTCAAGCACAAAGTAGCCAGACAGATAAGAAAGGAGGGACTGTCACAAGGATCCGAGTTGGATTCCACCTCCTTCCTGTCAGCGCCCAAGAGGGTCACATTTCTCCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAAAGTAAGATGGCACTTGAGGCTCAAGCCAAGGGGGTATTGGGAAGACGGCTCCAAGATTTTAAAACCTATTGCTTGTGTGACCTTGGATGAGTCACTTAACTGCACTGGGCCTCAGTTTCCTCATCGGTAAAGATGGGGATAATGATCCTTCCTACCCCATAGAGTTACTGTGAGGATTAAATGAGTTAATAAACGTAAAGTGCTTAGGGCAGTTCCAGGCTCACAGTAAGTGCTCTAGGGCATGGCACACAGGAGGCACTCAATCAGAATTTTTAAAATGAAAACAAAGCACCAAGCTTCTCAAGCTATAAGATCCATGACTTCCAAGCTGTAGGCCTCCTCTCTGTGTGACTCTGAAGTACTCTGACGTCTTCATCTGCCAGTACCTTGGGGTGCCTGTGGGAGGCCAGGAATCCGAGAAATCTGGGCCAAAGGGCAGGATGAGGGCACTTACCTGAGANN
|
pathogenic
| 334,147 |
Variant at chromosome position 49075609, chromosome X, gene WDR45 (WD repeat domain 45): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Neurodegeneration_with_brain_iron_accumulation_5']
|
TGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGGGCGCGTAGCGGTGGCAGCCGCACCTCCGACATCCTGCCGGTTAATGTGGCTGGACCAGCCAGGAGGGGGCCGGACTACAACAACCGTTACGCCCCTCGCCACCGCGGGGCACACCGGGAAATGGAGTCTGGGCTGGGCAGCTTTTTCCTAACCTCCTAGGTGGATTGCGCAGGGGCGGCGATGCACGTGACCGGAAAAGCAACTAACACGCCGCTCAGGAAAGCAGCAAAGGCTGCCGGGAAATCAAGCCTTTGCCACGAAGCGAGATGCTCCCAACCCTTAAAACTGCCATCCACCCCCGCGCGGGGCGCCGCAGGGGCTGCTCCGGGCGGTGCCAGCGGCTCAAGCACAAAGTAGCCAGACAGATAAGAAAGGAGGGACTGTCACAAGGATCCGAGTTGGATTCCACCTCCTTCCTGTCAGCGCCCAAGAGGGTCACATTTCTCCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAAAGTAAGATGGCACTTGAGGCTCAAGCCAAGGGGGTATTGGGAAGACGGCTCCAAGATTTTAAAACCTATTGCTTGTGTGACCTTGGATGAGTCACTTAACTGCACTGGGCCTCAGTTTCCTCATCGGTAAAGATGGGGATAATGATCCTTCCTACCCCATAGAGTTACTGTGAGGATTAAATGAGTTAATAAACGTAAAGTGCTTAGGGCAGTTCCAGGCTCACAGTAAGTGCTCTAGGGCATGGCACACAGGAGGCACTCAATCAGAATTTTTAAAATGAAAACAAAGCACCAAGCTTCTCAAGCTATAAGATCCATGACTTCCAAGCTGTAGGCCTCCTCTCTGTGTGACTCTGAAGTACTCTGACGTCTTCATCTGCCAGTACCTTGGGGTGCCTGTGGGAGGCCAGGAATCCGAGAAATCTGGGCCAAAGGGCAGGATGAGGGCACTTACCTGAGATCTCTGAG
|
TGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGGGCGCGTAGCGGTGGCAGCCGCACCTCCGACATCCTGCCGGTTAATGTGGCTGGACCAGCCAGGAGGGGGCCGGACTACAACAACCGTTACGCCCCTCGCCACCGCGGGGCACACCGGGAAATGGAGTCTGGGCTGGGCAGCTTTTTCCTAACCTCCTAGGTGGATTGCGCAGGGGCGGCGATGCACGTGACCGGAAAAGCAACTAACACGCCGCTCAGGAAAGCAGCAAAGGCTGCCGGGAAATCAAGCCTTTGCCACGAAGCGAGATGCTCCCAACCCTTAAAACTGCCATCCACCCCCGCGCGGGGCGCCGCAGGGGCTGCTCCGGGCGGTGCCAGCGGCTCAAGCACAAAGTAGCCAGACAGATAAGAAAGGAGGGACTGTCACAAGGATCCGAGTTGGATTCCACCTCCTTCCTGTCAGCGCCCAAGAGGGTCACATTTCTCCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAAAGTAAGATGGCACTTGAGGCTCAAGCCAAGGGGGTATTGGGAAGACGGCTCCAAGATTTTAAAACCTATTGCTTGTGTGACCTTGGATGAGTCACTTAACTGCACTGGGCCTCAGTTTCCTCATCGGTAAAGATGGGGATAATGATCCTTCCTACCCCATAGAGTTACTGTGAGGATTAAATGAGTTAATAAACGTAAAGTGCTTAGGGCAGTTCCAGGCTCACAGTAAGTGCTCTAGGGCATGGCACACAGGAGGCACTCAATCAGAATTTTTAAAATGAAAACAAAGCACCAAGCTTCTCAAGCTATAAGATCCATGACTTCCAAGCTGTAGGCCTCCTCTCTGTGTGACTCTGAAGTACTCTGACGTCTTCATCTGCCAGTACCTTGGGGTGCCTGTGGGAGGCCAGGAATCCGAGAAATCTGGGCCAAAGGGCAGGATGAGGGCACTTACCTGAGATCTCTGAGNN
|
pathogenic
| 334,148 |
Clinically, how would you classify the variant at chromosome X, position 49075670, gene WDR45 (WD repeat domain 45): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Neurodegeneration_with_brain_iron_accumulation_5']
|
CCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGGGCGCGTAGCGGTGGCAGCCGCACCTCCGACATCCTGCCGGTTAATGTGGCTGGACCAGCCAGGAGGGGGCCGGACTACAACAACCGTTACGCCCCTCGCCACCGCGGGGCACACCGGGAAATGGAGTCTGGGCTGGGCAGCTTTTTCCTAACCTCCTAGGTGGATTGCGCAGGGGCGGCGATGCACGTGACCGGAAAAGCAACTAACACGCCGCTCAGGAAAGCAGCAAAGGCTGCCGGGAAATCAAGCCTTTGCCACGAAGCGAGATGCTCCCAACCCTTAAAACTGCCATCCACCCCCGCGCGGGGCGCCGCAGGGGCTGCTCCGGGCGGTGCCAGCGGCTCAAGCACAAAGTAGCCAGACAGATAAGAAAGGAGGGACTGTCACAAGGATCCGAGTTGGATTCCACCTCCTTCCTGTCAGCGCCCAAGAGGGTCACATTTCTCCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAAAGTAAGATGGCACTTGAGGCTCAAGCCAAGGGGGTATTGGGAAGACGGCTCCAAGATTTTAAAACCTATTGCTTGTGTGACCTTGGATGAGTCACTTAACTGCACTGGGCCTCAGTTTCCTCATCGGTAAAGATGGGGATAATGATCCTTCCTACCCCATAGAGTTACTGTGAGGATTAAATGAGTTAATAAACGTAAAGTGCTTAGGGCAGTTCCAGGCTCACAGTAAGTGCTCTAGGGCATGGCACACAGGAGGCACTCAATCAGAATTTTTAAAATGAAAACAAAGCACCAAGCTTCTCAAGCTATAAGATCCATGACTTCCAAGCTGTAGGCCTCCTCTCTGTGTGACTCTGAAGTACTCTGACGTCTTCATCTGCCAGTACCTTGGGGTGCCTGTGGGAGGCCAGGAATCCGAGAAATCTGGGCCAAAGGGCAGGATGAGGGCACTTACCTGAGATCTCTGAGAACTTGGGACTACTACCACCGCCCACCAAGGCCAGAAGGTTGGAGCGGTGCAGCATCTCCA
|
CCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGGGCGCGTAGCGGTGGCAGCCGCACCTCCGACATCCTGCCGGTTAATGTGGCTGGACCAGCCAGGAGGGGGCCGGACTACAACAACCGTTACGCCCCTCGCCACCGCGGGGCACACCGGGAAATGGAGTCTGGGCTGGGCAGCTTTTTCCTAACCTCCTAGGTGGATTGCGCAGGGGCGGCGATGCACGTGACCGGAAAAGCAACTAACACGCCGCTCAGGAAAGCAGCAAAGGCTGCCGGGAAATCAAGCCTTTGCCACGAAGCGAGATGCTCCCAACCCTTAAAACTGCCATCCACCCCCGCGCGGGGCGCCGCAGGGGCTGCTCCGGGCGGTGCCAGCGGCTCAAGCACAAAGTAGCCAGACAGATAAGAAAGGAGGGACTGTCACAAGGATCCGAGTTGGATTCCACCTCCTTCCTGTCAGCGCCCAAGAGGGTCACATTTCTCCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAAAGTAAGATGGCACTTGAGGCTCAAGCCAAGGGGGTATTGGGAAGACGGCTCCAAGATTTTAAAACCTATTGCTTGTGTGACCTTGGATGAGTCACTTAACTGCACTGGGCCTCAGTTTCCTCATCGGTAAAGATGGGGATAATGATCCTTCCTACCCCATAGAGTTACTGTGAGGATTAAATGAGTTAATAAACGTAAAGTGCTTAGGGCAGTTCCAGGCTCACAGTAAGTGCTCTAGGGCATGGCACACAGGAGGCACTCAATCAGAATTTTTAAAATGAAAACAAAGCACCAAGCTTCTCAAGCTATAAGATCCATGACTTCCAAGCTGTAGGCCTCCTCTCTGTGTGACTCTGAAGTACTCTGACGTCTTCATCTGCCAGTACCTTGGGGTGCCTGTGGGAGGCCAGGAATCCGAGAAATCTGGGCCAAAGGGCAGGATGAGGGCACTTACCTGAGATCTCTGAGAACTTGGGACTACTACCACCGCCCACCAAGGCCAGAAGGTTGGAGCGGTGCAGCATCTCC
|
pathogenic
| 334,149 |
Evaluate this variant at chromosome X, position 49075684, gene WDR45 (WD repeat domain 45): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Neurodegeneration_with_brain_iron_accumulation_5']
|
TCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGGGCGCGTAGCGGTGGCAGCCGCACCTCCGACATCCTGCCGGTTAATGTGGCTGGACCAGCCAGGAGGGGGCCGGACTACAACAACCGTTACGCCCCTCGCCACCGCGGGGCACACCGGGAAATGGAGTCTGGGCTGGGCAGCTTTTTCCTAACCTCCTAGGTGGATTGCGCAGGGGCGGCGATGCACGTGACCGGAAAAGCAACTAACACGCCGCTCAGGAAAGCAGCAAAGGCTGCCGGGAAATCAAGCCTTTGCCACGAAGCGAGATGCTCCCAACCCTTAAAACTGCCATCCACCCCCGCGCGGGGCGCCGCAGGGGCTGCTCCGGGCGGTGCCAGCGGCTCAAGCACAAAGTAGCCAGACAGATAAGAAAGGAGGGACTGTCACAAGGATCCGAGTTGGATTCCACCTCCTTCCTGTCAGCGCCCAAGAGGGTCACATTTCTCCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAAAGTAAGATGGCACTTGAGGCTCAAGCCAAGGGGGTATTGGGAAGACGGCTCCAAGATTTTAAAACCTATTGCTTGTGTGACCTTGGATGAGTCACTTAACTGCACTGGGCCTCAGTTTCCTCATCGGTAAAGATGGGGATAATGATCCTTCCTACCCCATAGAGTTACTGTGAGGATTAAATGAGTTAATAAACGTAAAGTGCTTAGGGCAGTTCCAGGCTCACAGTAAGTGCTCTAGGGCATGGCACACAGGAGGCACTCAATCAGAATTTTTAAAATGAAAACAAAGCACCAAGCTTCTCAAGCTATAAGATCCATGACTTCCAAGCTGTAGGCCTCCTCTCTGTGTGACTCTGAAGTACTCTGACGTCTTCATCTGCCAGTACCTTGGGGTGCCTGTGGGAGGCCAGGAATCCGAGAAATCTGGGCCAAAGGGCAGGATGAGGGCACTTACCTGAGATCTCTGAGAACTTGGGACTACTACCACCGCCCACCAAGGCCAGAAGGTTGGAGCGGTGCAGCATCTCCACCAAGCCCATGCTG
|
TCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGGGCGCGTAGCGGTGGCAGCCGCACCTCCGACATCCTGCCGGTTAATGTGGCTGGACCAGCCAGGAGGGGGCCGGACTACAACAACCGTTACGCCCCTCGCCACCGCGGGGCACACCGGGAAATGGAGTCTGGGCTGGGCAGCTTTTTCCTAACCTCCTAGGTGGATTGCGCAGGGGCGGCGATGCACGTGACCGGAAAAGCAACTAACACGCCGCTCAGGAAAGCAGCAAAGGCTGCCGGGAAATCAAGCCTTTGCCACGAAGCGAGATGCTCCCAACCCTTAAAACTGCCATCCACCCCCGCGCGGGGCGCCGCAGGGGCTGCTCCGGGCGGTGCCAGCGGCTCAAGCACAAAGTAGCCAGACAGATAAGAAAGGAGGGACTGTCACAAGGATCCGAGTTGGATTCCACCTCCTTCCTGTCAGCGCCCAAGAGGGTCACATTTCTCCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAAAGTAAGATGGCACTTGAGGCTCAAGCCAAGGGGGTATTGGGAAGACGGCTCCAAGATTTTAAAACCTATTGCTTGTGTGACCTTGGATGAGTCACTTAACTGCACTGGGCCTCAGTTTCCTCATCGGTAAAGATGGGGATAATGATCCTTCCTACCCCATAGAGTTACTGTGAGGATTAAATGAGTTAATAAACGTAAAGTGCTTAGGGCAGTTCCAGGCTCACAGTAAGTGCTCTAGGGCATGGCACACAGGAGGCACTCAATCAGAATTTTTAAAATGAAAACAAAGCACCAAGCTTCTCAAGCTATAAGATCCATGACTTCCAAGCTGTAGGCCTCCTCTCTGTGTGACTCTGAAGTACTCTGACGTCTTCATCTGCCAGTACCTTGGGGTGCCTGTGGGAGGCCAGGAATCCGAGAAATCTGGGCCAAAGGGCAGGATGAGGGCACTTACCTGAGATCTCTGAGAACTTGGGACTACTACCACCGCCCACCAAGGCCAGAAGGTTGGAGCGGTGCAGCATCTCCACCAAGCCCATGCTGNN
|
pathogenic
| 334,150 |
Mutation at chromosome X, position 49075862, within WDR45 (WD repeat domain 45): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Neurodegeneration_with_brain_iron_accumulation_5']
|
GAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGGGCGCGTAGCGGTGGCAGCCGCACCTCCGACATCCTGCCGGTTAATGTGGCTGGACCAGCCAGGAGGGGGCCGGACTACAACAACCGTTACGCCCCTCGCCACCGCGGGGCACACCGGGAAATGGAGTCTGGGCTGGGCAGCTTTTTCCTAACCTCCTAGGTGGATTGCGCAGGGGCGGCGATGCACGTGACCGGAAAAGCAACTAACACGCCGCTCAGGAAAGCAGCAAAGGCTGCCGGGAAATCAAGCCTTTGCCACGAAGCGAGATGCTCCCAACCCTTAAAACTGCCATCCACCCCCGCGCGGGGCGCCGCAGGGGCTGCTCCGGGCGGTGCCAGCGGCTCAAGCACAAAGTAGCCAGACAGATAAGAAAGGAGGGACTGTCACAAGGATCCGAGTTGGATTCCACCTCCTTCCTGTCAGCGCCCAAGAGGGTCACATTTCTCCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAAAGTAAGATGGCACTTGAGGCTCAAGCCAAGGGGGTATTGGGAAGACGGCTCCAAGATTTTAAAACCTATTGCTTGTGTGACCTTGGATGAGTCACTTAACTGCACTGGGCCTCAGTTTCCTCATCGGTAAAGATGGGGATAATGATCCTTCCTACCCCATAGAGTTACTGTGAGGATTAAATGAGTTAATAAACGTAAAGTGCTTAGGGCAGTTCCAGGCTCACAGTAAGTGCTCTAGGGCATGGCACACAGGAGGCACTCAATCAGAATTTTTAAAATGAAAACAAAGCACCAAGCTTCTCAAGCTATAAGATCCATGACTTCCAAGCTGTAGGCCTCCTCTCTGTGTGACTCTGAAGTACTCTGACGTCTTCATCTGCCAGTACCTTGGGGTGCCTGTGGGAGGCCAGGAATCCGAGAAATCTGGGCCAAAGGGCAGGATGAGGGCACTTACCTGAGATCTCTGAGAACTTGGGACTACTACCACCGCCCACCAAGGCCAGAAGGTTGGAGCGGTGCAGCATCTCCACCAAGCCCATGCTGCCCACCTGCTCGTGGTCTGGACAGGGACCAGGGTGTCAGTGGAGGTGGGAGCCAACGCCCAGCCCAGCTCTTCTGCCCATTGCCCCTCCCCTGCCAACAGCTCACCCAGATGCCCCTTCTCCATCAAGGGCTCCACGTTGTAGATGCGCACACCTGTCTCCATGGCGCAGCAAAAGCA
|
GAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGGGCGCGTAGCGGTGGCAGCCGCACCTCCGACATCCTGCCGGTTAATGTGGCTGGACCAGCCAGGAGGGGGCCGGACTACAACAACCGTTACGCCCCTCGCCACCGCGGGGCACACCGGGAAATGGAGTCTGGGCTGGGCAGCTTTTTCCTAACCTCCTAGGTGGATTGCGCAGGGGCGGCGATGCACGTGACCGGAAAAGCAACTAACACGCCGCTCAGGAAAGCAGCAAAGGCTGCCGGGAAATCAAGCCTTTGCCACGAAGCGAGATGCTCCCAACCCTTAAAACTGCCATCCACCCCCGCGCGGGGCGCCGCAGGGGCTGCTCCGGGCGGTGCCAGCGGCTCAAGCACAAAGTAGCCAGACAGATAAGAAAGGAGGGACTGTCACAAGGATCCGAGTTGGATTCCACCTCCTTCCTGTCAGCGCCCAAGAGGGTCACATTTCTCCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAAAGTAAGATGGCACTTGAGGCTCAAGCCAAGGGGGTATTGGGAAGACGGCTCCAAGATTTTAAAACCTATTGCTTGTGTGACCTTGGATGAGTCACTTAACTGCACTGGGCCTCAGTTTCCTCATCGGTAAAGATGGGGATAATGATCCTTCCTACCCCATAGAGTTACTGTGAGGATTAAATGAGTTAATAAACGTAAAGTGCTTAGGGCAGTTCCAGGCTCACAGTAAGTGCTCTAGGGCATGGCACACAGGAGGCACTCAATCAGAATTTTTAAAATGAAAACAAAGCACCAAGCTTCTCAAGCTATAAGATCCATGACTTCCAAGCTGTAGGCCTCCTCTCTGTGTGACTCTGAAGTACTCTGACGTCTTCATCTGCCAGTACCTTGGGGTGCCTGTGGGAGGCCAGGAATCCGAGAAATCTGGGCCAAAGGGCAGGATGAGGGCACTTACCTGAGATCTCTGAGAACTTGGGACTACTACCACCGCCCACCAAGGCCAGAAGGTTGGAGCGGTGCAGCATCTCCACCAAGCCCATGCTGCCCACCTGCTCGTGGTCTGGACAGGGACCAGGGTGTCAGTGGAGGTGGGAGCCAACGCCCAGCCCAGCTCTTCTGCCCATTGCCCCTCCCCTGCCAACAGCTCACCCAGATGCCCCTTCTCCATCAAGGGCTCCACGTTGTAGATGCGCACACCTGTCTCCATGGCGCAGCAAAAGCANNN
|
pathogenic
| 334,156 |
Gene WDR45 (WD repeat domain 45) variant at chromosome X, position 49076449—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Neurodegeneration_with_brain_iron_accumulation_5']
|
CCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAAAGTAAGATGGCACTTGAGGCTCAAGCCAAGGGGGTATTGGGAAGACGGCTCCAAGATTTTAAAACCTATTGCTTGTGTGACCTTGGATGAGTCACTTAACTGCACTGGGCCTCAGTTTCCTCATCGGTAAAGATGGGGATAATGATCCTTCCTACCCCATAGAGTTACTGTGAGGATTAAATGAGTTAATAAACGTAAAGTGCTTAGGGCAGTTCCAGGCTCACAGTAAGTGCTCTAGGGCATGGCACACAGGAGGCACTCAATCAGAATTTTTAAAATGAAAACAAAGCACCAAGCTTCTCAAGCTATAAGATCCATGACTTCCAAGCTGTAGGCCTCCTCTCTGTGTGACTCTGAAGTACTCTGACGTCTTCATCTGCCAGTACCTTGGGGTGCCTGTGGGAGGCCAGGAATCCGAGAAATCTGGGCCAAAGGGCAGGATGAGGGCACTTACCTGAGATCTCTGAGAACTTGGGACTACTACCACCGCCCACCAAGGCCAGAAGGTTGGAGCGGTGCAGCATCTCCACCAAGCCCATGCTGCCCACCTGCTCGTGGTCTGGACAGGGACCAGGGTGTCAGTGGAGGTGGGAGCCAACGCCCAGCCCAGCTCTTCTGCCCATTGCCCCTCCCCTGCCAACAGCTCACCCAGATGCCCCTTCTCCATCAAGGGCTCCACGTTGTAGATGCGCACACCTGTCTCCATGGCGCAGCAAAAGCAGCCTGGGGGATGGAAGGAATCCAGACTGCCTTAAAGAATGCCCAGGTAGGAAGCTGGGGGCCCATGGCCCACTTCTGACCCCTCTTTTCCTCGCTTCCTCCCACAAGGGTACAGGCCCAATCCTCTCTCACTTTGGTCTTGGTTGAAACGCAGGCTGGTCACTCCTCGAAGTGGCTGTTGAGTCATGGTGCAGGATTGTTCCTCTGCATACAAATGGGATAAAGATGAGAAGAGTCCTGGAATCTCCCCTCCAAGTTCTGCCTCACCTGATTTCCTCCTCCTACTCTGCTAACTACTGACTCTGGAGTGACTGCAAAAAAGATAAAAACAGGCCAGGCGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCTAACATGGTGAAATCCCGTCTCTAATAAAAATACAAAAGTTAGCCGGGTGTGGTGGGGGGCACCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGAGAGGCTGAGATGGCAGTGAGCCGAAATCGAGCCATTGCATTCCAGCCT
|
CCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAAAGTAAGATGGCACTTGAGGCTCAAGCCAAGGGGGTATTGGGAAGACGGCTCCAAGATTTTAAAACCTATTGCTTGTGTGACCTTGGATGAGTCACTTAACTGCACTGGGCCTCAGTTTCCTCATCGGTAAAGATGGGGATAATGATCCTTCCTACCCCATAGAGTTACTGTGAGGATTAAATGAGTTAATAAACGTAAAGTGCTTAGGGCAGTTCCAGGCTCACAGTAAGTGCTCTAGGGCATGGCACACAGGAGGCACTCAATCAGAATTTTTAAAATGAAAACAAAGCACCAAGCTTCTCAAGCTATAAGATCCATGACTTCCAAGCTGTAGGCCTCCTCTCTGTGTGACTCTGAAGTACTCTGACGTCTTCATCTGCCAGTACCTTGGGGTGCCTGTGGGAGGCCAGGAATCCGAGAAATCTGGGCCAAAGGGCAGGATGAGGGCACTTACCTGAGATCTCTGAGAACTTGGGACTACTACCACCGCCCACCAAGGCCAGAAGGTTGGAGCGGTGCAGCATCTCCACCAAGCCCATGCTGCCCACCTGCTCGTGGTCTGGACAGGGACCAGGGTGTCAGTGGAGGTGGGAGCCAACGCCCAGCCCAGCTCTTCTGCCCATTGCCCCTCCCCTGCCAACAGCTCACCCAGATGCCCCTTCTCCATCAAGGGCTCCACGTTGTAGATGCGCACACCTGTCTCCATGGCGCAGCAAAAGCAGCCTGGGGGATGGAAGGAATCCAGACTGCCTTAAAGAATGCCCAGGTAGGAAGCTGGGGGCCCATGGCCCACTTCTGACCCCTCTTTTCCTCGCTTCCTCCCACAAGGGTACAGGCCCAATCCTCTCTCACTTTGGTCTTGGTTGAAACGCAGGCTGGTCACTCCTCGAAGTGGCTGTTGAGTCATGGTGCAGGATTGTTCCTCTGCATACAAATGGGATAAAGATGAGAAGAGTCCTGGAATCTCCCCTCCAAGTTCTGCCTCACCTGATTTCCTCCTCCTACTCTGCTAACTACTGACTCTGGAGTGACTGCAAAAAAGATAAAAACAGGCCAGGCGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCTAACATGGTGAAATCCCGTCTCTAATAAAAATACAAAAGTTAGCCGGGTGTGGTGGGGGGCACCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGAGAGGCTGAGATGGCAGTGAGCCGAAATCGAGCCATTGCATTCCAGCCTNNNNNN
|
pathogenic
| 334,164 |
Variant chromosome X, position 49076457, gene WDR45 (WD repeat domain 45): benign or pathogenic? Disease(s)?
|
pathogenic; ['Inborn_genetic_diseases', 'Neurodegeneration_with_brain_iron_accumulation_5']
|
CTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAAAGTAAGATGGCACTTGAGGCTCAAGCCAAGGGGGTATTGGGAAGACGGCTCCAAGATTTTAAAACCTATTGCTTGTGTGACCTTGGATGAGTCACTTAACTGCACTGGGCCTCAGTTTCCTCATCGGTAAAGATGGGGATAATGATCCTTCCTACCCCATAGAGTTACTGTGAGGATTAAATGAGTTAATAAACGTAAAGTGCTTAGGGCAGTTCCAGGCTCACAGTAAGTGCTCTAGGGCATGGCACACAGGAGGCACTCAATCAGAATTTTTAAAATGAAAACAAAGCACCAAGCTTCTCAAGCTATAAGATCCATGACTTCCAAGCTGTAGGCCTCCTCTCTGTGTGACTCTGAAGTACTCTGACGTCTTCATCTGCCAGTACCTTGGGGTGCCTGTGGGAGGCCAGGAATCCGAGAAATCTGGGCCAAAGGGCAGGATGAGGGCACTTACCTGAGATCTCTGAGAACTTGGGACTACTACCACCGCCCACCAAGGCCAGAAGGTTGGAGCGGTGCAGCATCTCCACCAAGCCCATGCTGCCCACCTGCTCGTGGTCTGGACAGGGACCAGGGTGTCAGTGGAGGTGGGAGCCAACGCCCAGCCCAGCTCTTCTGCCCATTGCCCCTCCCCTGCCAACAGCTCACCCAGATGCCCCTTCTCCATCAAGGGCTCCACGTTGTAGATGCGCACACCTGTCTCCATGGCGCAGCAAAAGCAGCCTGGGGGATGGAAGGAATCCAGACTGCCTTAAAGAATGCCCAGGTAGGAAGCTGGGGGCCCATGGCCCACTTCTGACCCCTCTTTTCCTCGCTTCCTCCCACAAGGGTACAGGCCCAATCCTCTCTCACTTTGGTCTTGGTTGAAACGCAGGCTGGTCACTCCTCGAAGTGGCTGTTGAGTCATGGTGCAGGATTGTTCCTCTGCATACAAATGGGATAAAGATGAGAAGAGTCCTGGAATCTCCCCTCCAAGTTCTGCCTCACCTGATTTCCTCCTCCTACTCTGCTAACTACTGACTCTGGAGTGACTGCAAAAAAGATAAAAACAGGCCAGGCGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCTAACATGGTGAAATCCCGTCTCTAATAAAAATACAAAAGTTAGCCGGGTGTGGTGGGGGGCACCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGAGAGGCTGAGATGGCAGTGAGCCGAAATCGAGCCATTGCATTCCAGCCTGGGTGACA
|
CTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAAAGTAAGATGGCACTTGAGGCTCAAGCCAAGGGGGTATTGGGAAGACGGCTCCAAGATTTTAAAACCTATTGCTTGTGTGACCTTGGATGAGTCACTTAACTGCACTGGGCCTCAGTTTCCTCATCGGTAAAGATGGGGATAATGATCCTTCCTACCCCATAGAGTTACTGTGAGGATTAAATGAGTTAATAAACGTAAAGTGCTTAGGGCAGTTCCAGGCTCACAGTAAGTGCTCTAGGGCATGGCACACAGGAGGCACTCAATCAGAATTTTTAAAATGAAAACAAAGCACCAAGCTTCTCAAGCTATAAGATCCATGACTTCCAAGCTGTAGGCCTCCTCTCTGTGTGACTCTGAAGTACTCTGACGTCTTCATCTGCCAGTACCTTGGGGTGCCTGTGGGAGGCCAGGAATCCGAGAAATCTGGGCCAAAGGGCAGGATGAGGGCACTTACCTGAGATCTCTGAGAACTTGGGACTACTACCACCGCCCACCAAGGCCAGAAGGTTGGAGCGGTGCAGCATCTCCACCAAGCCCATGCTGCCCACCTGCTCGTGGTCTGGACAGGGACCAGGGTGTCAGTGGAGGTGGGAGCCAACGCCCAGCCCAGCTCTTCTGCCCATTGCCCCTCCCCTGCCAACAGCTCACCCAGATGCCCCTTCTCCATCAAGGGCTCCACGTTGTAGATGCGCACACCTGTCTCCATGGCGCAGCAAAAGCAGCCTGGGGGATGGAAGGAATCCAGACTGCCTTAAAGAATGCCCAGGTAGGAAGCTGGGGGCCCATGGCCCACTTCTGACCCCTCTTTTCCTCGCTTCCTCCCACAAGGGTACAGGCCCAATCCTCTCTCACTTTGGTCTTGGTTGAAACGCAGGCTGGTCACTCCTCGAAGTGGCTGTTGAGTCATGGTGCAGGATTGTTCCTCTGCATACAAATGGGATAAAGATGAGAAGAGTCCTGGAATCTCCCCTCCAAGTTCTGCCTCACCTGATTTCCTCCTCCTACTCTGCTAACTACTGACTCTGGAGTGACTGCAAAAAAGATAAAAACAGGCCAGGCGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCTAACATGGTGAAATCCCGTCTCTAATAAAAATACAAAAGTTAGCCGGGTGTGGTGGGGGGCACCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGAGAGGCTGAGATGGCAGTGAGCCGAAATCGAGCCATTGCATTCCAGCCTGGGTGAC
|
pathogenic
| 334,165 |
Considering the variant on chromosome X, location 49076493, involving gene WDR45 (WD repeat domain 45), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Neurodegeneration_with_brain_iron_accumulation_5']
|
CATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAAAGTAAGATGGCACTTGAGGCTCAAGCCAAGGGGGTATTGGGAAGACGGCTCCAAGATTTTAAAACCTATTGCTTGTGTGACCTTGGATGAGTCACTTAACTGCACTGGGCCTCAGTTTCCTCATCGGTAAAGATGGGGATAATGATCCTTCCTACCCCATAGAGTTACTGTGAGGATTAAATGAGTTAATAAACGTAAAGTGCTTAGGGCAGTTCCAGGCTCACAGTAAGTGCTCTAGGGCATGGCACACAGGAGGCACTCAATCAGAATTTTTAAAATGAAAACAAAGCACCAAGCTTCTCAAGCTATAAGATCCATGACTTCCAAGCTGTAGGCCTCCTCTCTGTGTGACTCTGAAGTACTCTGACGTCTTCATCTGCCAGTACCTTGGGGTGCCTGTGGGAGGCCAGGAATCCGAGAAATCTGGGCCAAAGGGCAGGATGAGGGCACTTACCTGAGATCTCTGAGAACTTGGGACTACTACCACCGCCCACCAAGGCCAGAAGGTTGGAGCGGTGCAGCATCTCCACCAAGCCCATGCTGCCCACCTGCTCGTGGTCTGGACAGGGACCAGGGTGTCAGTGGAGGTGGGAGCCAACGCCCAGCCCAGCTCTTCTGCCCATTGCCCCTCCCCTGCCAACAGCTCACCCAGATGCCCCTTCTCCATCAAGGGCTCCACGTTGTAGATGCGCACACCTGTCTCCATGGCGCAGCAAAAGCAGCCTGGGGGATGGAAGGAATCCAGACTGCCTTAAAGAATGCCCAGGTAGGAAGCTGGGGGCCCATGGCCCACTTCTGACCCCTCTTTTCCTCGCTTCCTCCCACAAGGGTACAGGCCCAATCCTCTCTCACTTTGGTCTTGGTTGAAACGCAGGCTGGTCACTCCTCGAAGTGGCTGTTGAGTCATGGTGCAGGATTGTTCCTCTGCATACAAATGGGATAAAGATGAGAAGAGTCCTGGAATCTCCCCTCCAAGTTCTGCCTCACCTGATTTCCTCCTCCTACTCTGCTAACTACTGACTCTGGAGTGACTGCAAAAAAGATAAAAACAGGCCAGGCGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCTAACATGGTGAAATCCCGTCTCTAATAAAAATACAAAAGTTAGCCGGGTGTGGTGGGGGGCACCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGAGAGGCTGAGATGGCAGTGAGCCGAAATCGAGCCATTGCATTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCGGGGGGAAGAAAAAGATAA
|
CATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAAAGTAAGATGGCACTTGAGGCTCAAGCCAAGGGGGTATTGGGAAGACGGCTCCAAGATTTTAAAACCTATTGCTTGTGTGACCTTGGATGAGTCACTTAACTGCACTGGGCCTCAGTTTCCTCATCGGTAAAGATGGGGATAATGATCCTTCCTACCCCATAGAGTTACTGTGAGGATTAAATGAGTTAATAAACGTAAAGTGCTTAGGGCAGTTCCAGGCTCACAGTAAGTGCTCTAGGGCATGGCACACAGGAGGCACTCAATCAGAATTTTTAAAATGAAAACAAAGCACCAAGCTTCTCAAGCTATAAGATCCATGACTTCCAAGCTGTAGGCCTCCTCTCTGTGTGACTCTGAAGTACTCTGACGTCTTCATCTGCCAGTACCTTGGGGTGCCTGTGGGAGGCCAGGAATCCGAGAAATCTGGGCCAAAGGGCAGGATGAGGGCACTTACCTGAGATCTCTGAGAACTTGGGACTACTACCACCGCCCACCAAGGCCAGAAGGTTGGAGCGGTGCAGCATCTCCACCAAGCCCATGCTGCCCACCTGCTCGTGGTCTGGACAGGGACCAGGGTGTCAGTGGAGGTGGGAGCCAACGCCCAGCCCAGCTCTTCTGCCCATTGCCCCTCCCCTGCCAACAGCTCACCCAGATGCCCCTTCTCCATCAAGGGCTCCACGTTGTAGATGCGCACACCTGTCTCCATGGCGCAGCAAAAGCAGCCTGGGGGATGGAAGGAATCCAGACTGCCTTAAAGAATGCCCAGGTAGGAAGCTGGGGGCCCATGGCCCACTTCTGACCCCTCTTTTCCTCGCTTCCTCCCACAAGGGTACAGGCCCAATCCTCTCTCACTTTGGTCTTGGTTGAAACGCAGGCTGGTCACTCCTCGAAGTGGCTGTTGAGTCATGGTGCAGGATTGTTCCTCTGCATACAAATGGGATAAAGATGAGAAGAGTCCTGGAATCTCCCCTCCAAGTTCTGCCTCACCTGATTTCCTCCTCCTACTCTGCTAACTACTGACTCTGGAGTGACTGCAAAAAAGATAAAAACAGGCCAGGCGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCTAACATGGTGAAATCCCGTCTCTAATAAAAATACAAAAGTTAGCCGGGTGTGGTGGGGGGCACCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGAGAGGCTGAGATGGCAGTGAGCCGAAATCGAGCCATTGCATTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCGGGGGGAAGAAAAAGATAANN
|
pathogenic
| 334,167 |
Considering the variant on chromosome X, location 49076642, involving gene WDR45 (WD repeat domain 45), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic
|
TGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCACTTGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAAAGTAAGATGGCACTTGAGGCTCAAGCCAAGGGGGTATTGGGAAGACGGCTCCAAGATTTTAAAACCTATTGCTTGTGTGACCTTGGATGAGTCACTTAACTGCACTGGGCCTCAGTTTCCTCATCGGTAAAGATGGGGATAATGATCCTTCCTACCCCATAGAGTTACTGTGAGGATTAAATGAGTTAATAAACGTAAAGTGCTTAGGGCAGTTCCAGGCTCACAGTAAGTGCTCTAGGGCATGGCACACAGGAGGCACTCAATCAGAATTTTTAAAATGAAAACAAAGCACCAAGCTTCTCAAGCTATAAGATCCATGACTTCCAAGCTGTAGGCCTCCTCTCTGTGTGACTCTGAAGTACTCTGACGTCTTCATCTGCCAGTACCTTGGGGTGCCTGTGGGAGGCCAGGAATCCGAGAAATCTGGGCCAAAGGGCAGGATGAGGGCACTTACCTGAGATCTCTGAGAACTTGGGACTACTACCACCGCCCACCAAGGCCAGAAGGTTGGAGCGGTGCAGCATCTCCACCAAGCCCATGCTGCCCACCTGCTCGTGGTCTGGACAGGGACCAGGGTGTCAGTGGAGGTGGGAGCCAACGCCCAGCCCAGCTCTTCTGCCCATTGCCCCTCCCCTGCCAACAGCTCACCCAGATGCCCCTTCTCCATCAAGGGCTCCACGTTGTAGATGCGCACACCTGTCTCCATGGCGCAGCAAAAGCAGCCTGGGGGATGGAAGGAATCCAGACTGCCTTAAAGAATGCCCAGGTAGGAAGCTGGGGGCCCATGGCCCACTTCTGACCCCTCTTTTCCTCGCTTCCTCCCACAAGGGTACAGGCCCAATCCTCTCTCACTTTGGTCTTGGTTGAAACGCAGGCTGGTCACTCCTCGAAGTGGCTGTTGAGTCATGGTGCAGGATTGTTCCTCTGCATACAAATGGGATAAAGATGAGAAGAGTCCTGGAATCTCCCCTCCAAGTTCTGCCTCACCTGATTTCCTCCTCCTACTCTGCTAACTACTGACTCTGGAGTGACTGCAAAAAAGATAAAAACAGGCCAGGCGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCTAACATGGTGAAATCCCGTCTCTAATAAAAATACAAAAGTTAGCCGGGTGTGGTGGGGGGCACCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGAGAGGCTGAGATGGCAGTGAGCCGAAATCGAGCCATTGCATTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCGGGGGGAAGAAAAAGATAAAAACAGAGAGTCCCAGGGTCTCTGCTCTAAGCTCCCAAGATCCCAAACAACATGGCCAGGAACCCTCCTTCTTTCAGGTTTGGCAAGCTCCAGGCCCACACTGACGTGGACCCCACACCTCCTCTTTACATGCTGGCCCTCACTGACTT
|
TGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGCTGGGGGAGGGGGGGTGGTAAAAGGTCAGAGGCTGCCACAGCCACAGGCTCCAGTCCTCTCAGGCATCTCAGGACCTAGGGTCTGCCTCCAGGCCTTTGCCCAGTGCTGTCCCCCTTACTGATGATGAAGCTGAGCCTCACATGGCCCTAAAATCCTTTCAGGTCCAACCTGCAGGCCTTTGCCCCATGCAGTACCCCCAACCAAGGGGCTGTTCCCACTCACCAATGACAGAGTTGACGTTCTTGGAAGTATTGCGACCGAAGGCGCAGATGCAAGCTGACTCAGCAGGCACAGTGAAGCTCGCCAGGCTCCACTGAGAGTCCACGTACTGCCCAATCATAGGCCCCACCTTGCCCACGCGAGCCAGCCTGCAGGCAGCACTGGCTAAGCCCAGGTATGGTAAATGGGCAGGGGGACAGGGACACGGTAGGGTGGGGAGGGGGTACTCACGCGGAGCGGCGGTTGAGGCGGGTATCCTTGAGAGCAAAGATATGGACAGTACCCTTATCACTGGAAGCGCAGAGGAAGGAGGAGTCGTGGCTGAAGTTAATGCTAGAAGACAGATCAGCAGTGATGCCCACATGTCATGTGGTATGGGGTCACCAGCCCACCATGCATACCCTGTGCTCACCAGTAGAGGGTGGCAGGGTCAGTGCCTCGGCGCAGCTCCACCAGTTTCTCCTTGGATTGTGTGTCAAAGAGGCGAATAAGGGTACCCTTCTGGGAGGCTGAGGCCACTACAGTGCCTGGCTGGTTTAGAGACACACAGGCTATGTCACTCTGATGTGCATTGATCGTGAATGGAGCAGACGAGGTGCCAGGCTTTGTGCTCGCCAGGTCCTGGGGTAGGAGGGAGGAGTCTGAGGTTGGGGTGGTATGGAGGGAAGGGGCCAAGAGTCCACAAGGAAGCCAGTCCACCAACCTACCCACCCTTGTCCACTGGACGGCTCACCACAAGTTGCAGACTCCCACACTTGTGTCCCGGGAACACTAGCAGTTGCTTCTCCAGGCTGGGGCAGAGGTCACAGAGCCCTAGGGTGTGAAGATGGGGGGTGGGGTGGGCGGCTGAAGAGGAGGCAGCATCTCAGAATGGACAGAGCTGGATGAGGACCAGACTTCAACCCTCCACGATAAGCTTAACCCGAAGAACCCTGAGGGGGCTCAGCTCAGCTGCACGCCCCGCCAGCTAGGCAGATTCCATTCCTTGCTCTGCAGCTGTGGAATCTAGTAAGCTGCTATCACAGCCCCAGAAGCTCAGGGATCCCTGACACACCCACCCATGTCCTCACGAGGTGTTTTTGCTCTGCCACTGGGGTACCCAGGGGTGGGGCAGGTCCGGAGGTGGGGAGAACTGGCTGAGGGCTGGAAAGATGGAGAGGCTATGAGTGTGAGCATCTCCCTGCCTCTTTCCCCATTTCTCTGTGTGTGAGTGCCCCTTCCTTTCTTTCCTCATCTCTGCCCCTCTGCCCCATCCACTGTTTCATGCCCTTACACCTGTGTATCTGAGCCCTCTCACCCTTGGGGTTGTCCCGGGTATCAAACTCAAACAGCTTTCGGGGATTGTCGGGGAAGGAGTACACATAGATGCGGTTCTTCAGCACGATCACGATCCTGTGGGTATCACACAACACAGGATGGCCGTGAGGGGGTGGCGGGATGCCCAGGGAGGACTATCCCTCTCACTTACTGTGGGGACCTCCTACCTCCCACCCCGGTCCTCCTCAGGCTCGTCATGGCGCATGCGCACAGAAAGCACTGGCTTGGTGAAGGTGAACTCCAGCACCAGCTTCTCCTTGGAGTCCTTGCCCTCCCGGGCATCGTCCCAGATCAGCACTGCTGGGCAGGTGGGTGGGTTGTCGGGGCCAAGGTTTAGGGTAAGGGGCAGCCCTGGTGACACAGGATCCACCCCTGCTTCCCAGGGACCTCAACCTACTTGCTTAGCCTTTCAATAAACAACCAGTGAGATCCTCGCACAGCACGAGCACTTGTGGATATGATCCCTGAGAGGAGTGTTCTAGACTGTTACACTCATCTACAGATGAGGAAACTGAGGTTCAAAGTGGTTGAGTGTCTGGCCAAGGACCTCAAAGCTCATCAGCAACCAAACAGGGACTCACACTCAGGCCTGTAACTTCCCCTCGGTAACTATTTCTGCCTCCAGGGTCCTAGTCCATGCACCCTGGAGATTTCCGTGAGGAATCCTAGGGCTCTGTGACTCACCTAGGGCAACTCCTGCCTTGTCCAGATGGGATCATCAAGAAAAACCCTTAAAGTAAGATGGCACTTGAGGCTCAAGCCAAGGGGGTATTGGGAAGACGGCTCCAAGATTTTAAAACCTATTGCTTGTGTGACCTTGGATGAGTCACTTAACTGCACTGGGCCTCAGTTTCCTCATCGGTAAAGATGGGGATAATGATCCTTCCTACCCCATAGAGTTACTGTGAGGATTAAATGAGTTAATAAACGTAAAGTGCTTAGGGCAGTTCCAGGCTCACAGTAAGTGCTCTAGGGCATGGCACACAGGAGGCACTCAATCAGAATTTTTAAAATGAAAACAAAGCACCAAGCTTCTCAAGCTATAAGATCCATGACTTCCAAGCTGTAGGCCTCCTCTCTGTGTGACTCTGAAGTACTCTGACGTCTTCATCTGCCAGTACCTTGGGGTGCCTGTGGGAGGCCAGGAATCCGAGAAATCTGGGCCAAAGGGCAGGATGAGGGCACTTACCTGAGATCTCTGAGAACTTGGGACTACTACCACCGCCCACCAAGGCCAGAAGGTTGGAGCGGTGCAGCATCTCCACCAAGCCCATGCTGCCCACCTGCTCGTGGTCTGGACAGGGACCAGGGTGTCAGTGGAGGTGGGAGCCAACGCCCAGCCCAGCTCTTCTGCCCATTGCCCCTCCCCTGCCAACAGCTCACCCAGATGCCCCTTCTCCATCAAGGGCTCCACGTTGTAGATGCGCACACCTGTCTCCATGGCGCAGCAAAAGCAGCCTGGGGGATGGAAGGAATCCAGACTGCCTTAAAGAATGCCCAGGTAGGAAGCTGGGGGCCCATGGCCCACTTCTGACCCCTCTTTTCCTCGCTTCCTCCCACAAGGGTACAGGCCCAATCCTCTCTCACTTTGGTCTTGGTTGAAACGCAGGCTGGTCACTCCTCGAAGTGGCTGTTGAGTCATGGTGCAGGATTGTTCCTCTGCATACAAATGGGATAAAGATGAGAAGAGTCCTGGAATCTCCCCTCCAAGTTCTGCCTCACCTGATTTCCTCCTCCTACTCTGCTAACTACTGACTCTGGAGTGACTGCAAAAAAGATAAAAACAGGCCAGGCGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCTAACATGGTGAAATCCCGTCTCTAATAAAAATACAAAAGTTAGCCGGGTGTGGTGGGGGGCACCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGAGAGGCTGAGATGGCAGTGAGCCGAAATCGAGCCATTGCATTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCGGGGGGAAGAAAAAGATAAAAACAGAGAGTCCCAGGGTCTCTGCTCTAAGCTCCCAAGATCCCAAACAACATGGCCAGGAACCCTCCTTCTTTCAGGTTTGGCAAGCTCCAGGCCCACACTGACGTGGACCCCACACCTCCTCTTTACATGCTGGCCCTCACTGACTTNNNN
|
pathogenic
| 334,171 |
Evaluate if the mutation on chromosome X at position 49208632 in CACNA1F (calcium voltage-gated channel subunit alpha1 F) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic
|
TGGCGCTGCAGACACTGGATGGTGAAGGAGGGCTTCCGACCTGGGGGTGGGTGGGGCACCAGGGGCAAATAGCAATGTCAGTGCTTCCCCAGATCTCTGTCCTGCAGGCCCGTGGGGGCCCCTTGGATCCATCCCTGCTCTCACCTGCAGGTGTGGGGGGCAGCAGACGGCGGCGTGGTACCAGGTGCCCATCCATGTATCTCTGAGCTCTGTGAGGTGGCAAAAGGACTGAGCACGGGGGAGTCCCTGCCTGCTCATCTAGGTAGGAAAGCCTGTGTGGGTGGGAGGGCCAGGGGTGAACTTGGGTCTGGGCCTGGACCTGGGCCTGGGAGATGGGGCACAAACAGTCCTCCCCGACCCAGTTCCCACCCCTCCTCCACCCCAGCTCATGGGTTCATCCCATGTGGCATGGCCAGTGTACCGATCAGGGACTTCCTCATCCTCATCTTGCTTGTTTTGCCCTTTGGTTCCCTTGGGCTGAGAATTTCCTTCTTCTGGGATGGTGAAAATGAGAGCCCCAGAGCCTCTCCTGGGGAAAGGGAGGCACGTTAGGCAGACCAGATCCCTCAATATGTGGCCCTGGACCCCTGGTTCCTCTCATCCCATGCCCCAACCCTTACAGAAACACTGGGCTTTTGGATTTTTTTGTTGAGGACAAGTCACATAAAATTAACCATTAACCATTTTAAAGTGACCATGGGCTTTTGTTTAATAGATGTTCATCTAATTAGGACTGAAAGTTTCAAAAAAATCAAAGTTGACCTGTAGAGAGACACCTTGAACACAAAACTGGGCATGTATTAGGAGTGGGGGGAGCCTGTAAAAGCTAGGCACTTTATTTTTTTATTTCTATTTTTTATTTTCTGAGACGAGGTCTTACTCTGTCACTTAGGCTGGAGTGCAGCGGCATGATCTCAGCTCACTGCAGCCTCAACCTCCCAGGCTCAATTTATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCATGCTCGGCTATTTTTTTATTTTTTGTATGGACGGGGTCTCATTATGTTGTGCAGGCTGGTCTTGTACTCCTGGGCTCAAGCGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACGAGTGTGAGCCACCGTGCCTAGGCAAGCTAGACACTCTGAAATTTTTTTTTAAAATTTTTCTTTAATCTGCTTATGTATTGTCTAGCAGCTAAGTGTTTGACATGCATTACCTCATTTCATCCTTTCTTTATCCCTGTGAAGTAAGTGCTTTGTCATCCCCCTTAAACAGGTGAGGAAACTGAGGCTCATAGAAACGAAGTGACTAGGCAGGGCACGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGCAAAACCTCGTCTCTACTGAAAAAAAAAAAAAAAATTAGCCTGGCATTATGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTCAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAAATTGTGCCACTGCACTCCAGCCTGGGAGACAGAGCGGGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGTGATTAGCTCAAGGTCACTTAGCAAATGGCAGAGGCAGAATGTGAACTGAAACTCTTGGTTTCACACAATGTGCTTTTTGCATTAAACCTTTGTATTGCCTTTCTCATATGAATCTCTTATCACCCTCTATTCTTACCTGAGCCCTTGAAACACCTCCATTCTTCCCAAATTTCTGCTTGAAGGCCTCTAGGCCCTCCCTCCCACCCCCCTCAACTTCCTGCCTCCTGAATTGCCTCTATCCAGTGTCTAGTCCTTGCCTTCCCTCACAATCTACTTCCAGACACTTGATAATACCTGTGGGTGTTGGATCCAGCCTGGGGCACACTGGGCTGACTGGAGGTGGGAGTCCCCCTGTCATCATCACTGGGCCCAAAGGAGAGTGAATCTGGAAGTCTGTCCCCGACAGGCAGAGACACAGAAATCCCGGAGCCCCGGCGAGCTGAGGGCTGGGAGACCATCGTGGCCTGTGGAGAGTCACAGGACTGAGTGTTGCATGCACTTTGTGGCTAAGTCATTTGGTCATATAACATGTCTCCCCCACAGGTCCATGAATGTGGGCCTTGCCCTCCAACAGCAATGGTAAATGTCAAATAAATAAATACGTAAATAAATAAATAAATATTTGCGATAGGGTCTTGTCCTGTCACCAGGCGGGAGTGCAGTGGCATGATCACAGCTCACTGTGGCCTCATCCTCCCAGGTTCAAGCAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCTTGCACCACCACTCCTAGCTAATTTTTAAATTTTTTTGTAGAGAGGCGGTTTCACTATTTTGCCAGGACTGGTCTTGAACCCTAGGGTTCAAGCGATCCTTCCACCCTGGACTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCACTCCCAGCCTCAAATAAATATTTTTCTATTGCAGAGGGGGCTTCTCTGGGGGAGCTTCTTCCCAGAAGCAGTGTCAAAATCACTCAGGGGATTGACGAAGTATTTTACAATCAAGTTCCTGGGAGAGTGAAAACTTGTCCCCACTTTGTTAGTTTCCAAGTCCTTTTCATCTTCCTCCTCCACTCCCTCCTGCCCCTCTTCTTCCTCCTCCTCTGTGTCACAGGTGAGGGCCTGCCGCATCTCAGGACCCAAGTCCTGCAGGCTCCGCAGACCAGCCTGTGGGGGTGGAGAAATAGGTAAGCAGGCAGCTCAGGGTCTGAACTTTCCCTCTGTTTCCCCTGCAGGCGGGTAGGGTGGGGGAAGGAGTCCTTCAGCCACCCTGGCCCTCCGTGAGGCCTGGGGCCTCAGTTTCCTTATCTGTGACATGGGTTTCACAAGATCAAAATGGGGGTCAGCCTCAGCCACAGCACTGCCACACGTGCCCATCCACACTAGGCCCTGCCCCGAAGACCTGAAGGGCGGAAGAGGTGCTAGGGGCGGCGTCGTTGCCTAGTAGCCCTTTTTCTTTCCTCCGCCGGAATTTGCGGAAATAGTCCTGGATCAGAAATGTGGCGTAGAATTTGCCCACGGTGACCTCCTCCTCTAGGGGCAAGGGAGAGAAGGCAAGATCACACAGGGGCCCTCTGACCCAGCCCACCTCGCCGCCTCTCTACCCACCAGCATGGACTTCCCCTCGCCCTCTGCCCAGCGCTGGTTTTGTGGTGGAGAGCGATCATCTGCCATTCAGGGGCTGGCGCGGGGAACTGGGGCGGGGATAGCTCACCGTCTGGTGGGGGGATGACCTCATCTAGCAGCTTCTGTTTCATCCGCTTCCAGATCTTTTTGATGACAATCCGCAGCTCCTGGTTGGCTTGCTCCAGGTTCCCTGCGTTGGAGGAGGATGTGGGGCATGAGCCAATAGGAAGAACCTCCACAGCTGCCCCCTCACTGTTGGGTGGGGGGAACTTCACAAGCTGCTACCGCAGATGCACACCGCCCCCATTGGACGGGGTGGGGGGAAACAGGCCTGGAGAATCCTGTCACCCATTCTGGGGTTCAGAGCTAGGAGTGGGGCCCATGATTCAATGAGTTTGCTCCTTGCACCCTCCCCAGGAACGATCCCACTCCTGCCCCTCCCCTACACCTTCTGTTTTGATCTTCAGGGATGTCCGGACCAGGGCAAAGAGTGTGGCGTTGAATGTCACCGTCCCATCTGAGTTGAGGGGCATGTTCATTGCCACAAGTCTCTGCAAACACGAGAGACATGAAACCCACTCTGGGAAAATGCCGGGTATGCAGGAACGAATGTCAAGGGGCAGAAACCTCTGAGGATGCGATCAAACACCCCTCCCCACCCAAGGCAGATCCCTTCCCACCCTTGCCATGTGATAGACAGTTCTCTCAGGAGCCTGGGGGTGGGCAGGTGCACAGACCTTGCAGGCCACTCGGTGTGGGCACAGCTTCCCAAATCCCAGAGGGGGCTGGATACGTCTCAGCAGGGCAACCACATCCAAGTGTTTGAT
|
TGGCGCTGCAGACACTGGATGGTGAAGGAGGGCTTCCGACCTGGGGGTGGGTGGGGCACCAGGGGCAAATAGCAATGTCAGTGCTTCCCCAGATCTCTGTCCTGCAGGCCCGTGGGGGCCCCTTGGATCCATCCCTGCTCTCACCTGCAGGTGTGGGGGGCAGCAGACGGCGGCGTGGTACCAGGTGCCCATCCATGTATCTCTGAGCTCTGTGAGGTGGCAAAAGGACTGAGCACGGGGGAGTCCCTGCCTGCTCATCTAGGTAGGAAAGCCTGTGTGGGTGGGAGGGCCAGGGGTGAACTTGGGTCTGGGCCTGGACCTGGGCCTGGGAGATGGGGCACAAACAGTCCTCCCCGACCCAGTTCCCACCCCTCCTCCACCCCAGCTCATGGGTTCATCCCATGTGGCATGGCCAGTGTACCGATCAGGGACTTCCTCATCCTCATCTTGCTTGTTTTGCCCTTTGGTTCCCTTGGGCTGAGAATTTCCTTCTTCTGGGATGGTGAAAATGAGAGCCCCAGAGCCTCTCCTGGGGAAAGGGAGGCACGTTAGGCAGACCAGATCCCTCAATATGTGGCCCTGGACCCCTGGTTCCTCTCATCCCATGCCCCAACCCTTACAGAAACACTGGGCTTTTGGATTTTTTTGTTGAGGACAAGTCACATAAAATTAACCATTAACCATTTTAAAGTGACCATGGGCTTTTGTTTAATAGATGTTCATCTAATTAGGACTGAAAGTTTCAAAAAAATCAAAGTTGACCTGTAGAGAGACACCTTGAACACAAAACTGGGCATGTATTAGGAGTGGGGGGAGCCTGTAAAAGCTAGGCACTTTATTTTTTTATTTCTATTTTTTATTTTCTGAGACGAGGTCTTACTCTGTCACTTAGGCTGGAGTGCAGCGGCATGATCTCAGCTCACTGCAGCCTCAACCTCCCAGGCTCAATTTATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCATGCTCGGCTATTTTTTTATTTTTTGTATGGACGGGGTCTCATTATGTTGTGCAGGCTGGTCTTGTACTCCTGGGCTCAAGCGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACGAGTGTGAGCCACCGTGCCTAGGCAAGCTAGACACTCTGAAATTTTTTTTTAAAATTTTTCTTTAATCTGCTTATGTATTGTCTAGCAGCTAAGTGTTTGACATGCATTACCTCATTTCATCCTTTCTTTATCCCTGTGAAGTAAGTGCTTTGTCATCCCCCTTAAACAGGTGAGGAAACTGAGGCTCATAGAAACGAAGTGACTAGGCAGGGCACGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGCAAAACCTCGTCTCTACTGAAAAAAAAAAAAAAAATTAGCCTGGCATTATGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTCAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAAATTGTGCCACTGCACTCCAGCCTGGGAGACAGAGCGGGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGTGATTAGCTCAAGGTCACTTAGCAAATGGCAGAGGCAGAATGTGAACTGAAACTCTTGGTTTCACACAATGTGCTTTTTGCATTAAACCTTTGTATTGCCTTTCTCATATGAATCTCTTATCACCCTCTATTCTTACCTGAGCCCTTGAAACACCTCCATTCTTCCCAAATTTCTGCTTGAAGGCCTCTAGGCCCTCCCTCCCACCCCCCTCAACTTCCTGCCTCCTGAATTGCCTCTATCCAGTGTCTAGTCCTTGCCTTCCCTCACAATCTACTTCCAGACACTTGATAATACCTGTGGGTGTTGGATCCAGCCTGGGGCACACTGGGCTGACTGGAGGTGGGAGTCCCCCTGTCATCATCACTGGGCCCAAAGGAGAGTGAATCTGGAAGTCTGTCCCCGACAGGCAGAGACAGAAATCCCGGAGCCCCGGCGAGCTGAGGGCTGGGAGACCATCGTGGCCTGTGGAGAGTCACAGGACTGAGTGTTGCATGCACTTTGTGGCTAAGTCATTTGGTCATATAACATGTCTCCCCCACAGGTCCATGAATGTGGGCCTTGCCCTCCAACAGCAATGGTAAATGTCAAATAAATAAATACGTAAATAAATAAATAAATATTTGCGATAGGGTCTTGTCCTGTCACCAGGCGGGAGTGCAGTGGCATGATCACAGCTCACTGTGGCCTCATCCTCCCAGGTTCAAGCAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCTTGCACCACCACTCCTAGCTAATTTTTAAATTTTTTTGTAGAGAGGCGGTTTCACTATTTTGCCAGGACTGGTCTTGAACCCTAGGGTTCAAGCGATCCTTCCACCCTGGACTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCACTCCCAGCCTCAAATAAATATTTTTCTATTGCAGAGGGGGCTTCTCTGGGGGAGCTTCTTCCCAGAAGCAGTGTCAAAATCACTCAGGGGATTGACGAAGTATTTTACAATCAAGTTCCTGGGAGAGTGAAAACTTGTCCCCACTTTGTTAGTTTCCAAGTCCTTTTCATCTTCCTCCTCCACTCCCTCCTGCCCCTCTTCTTCCTCCTCCTCTGTGTCACAGGTGAGGGCCTGCCGCATCTCAGGACCCAAGTCCTGCAGGCTCCGCAGACCAGCCTGTGGGGGTGGAGAAATAGGTAAGCAGGCAGCTCAGGGTCTGAACTTTCCCTCTGTTTCCCCTGCAGGCGGGTAGGGTGGGGGAAGGAGTCCTTCAGCCACCCTGGCCCTCCGTGAGGCCTGGGGCCTCAGTTTCCTTATCTGTGACATGGGTTTCACAAGATCAAAATGGGGGTCAGCCTCAGCCACAGCACTGCCACACGTGCCCATCCACACTAGGCCCTGCCCCGAAGACCTGAAGGGCGGAAGAGGTGCTAGGGGCGGCGTCGTTGCCTAGTAGCCCTTTTTCTTTCCTCCGCCGGAATTTGCGGAAATAGTCCTGGATCAGAAATGTGGCGTAGAATTTGCCCACGGTGACCTCCTCCTCTAGGGGCAAGGGAGAGAAGGCAAGATCACACAGGGGCCCTCTGACCCAGCCCACCTCGCCGCCTCTCTACCCACCAGCATGGACTTCCCCTCGCCCTCTGCCCAGCGCTGGTTTTGTGGTGGAGAGCGATCATCTGCCATTCAGGGGCTGGCGCGGGGAACTGGGGCGGGGATAGCTCACCGTCTGGTGGGGGGATGACCTCATCTAGCAGCTTCTGTTTCATCCGCTTCCAGATCTTTTTGATGACAATCCGCAGCTCCTGGTTGGCTTGCTCCAGGTTCCCTGCGTTGGAGGAGGATGTGGGGCATGAGCCAATAGGAAGAACCTCCACAGCTGCCCCCTCACTGTTGGGTGGGGGGAACTTCACAAGCTGCTACCGCAGATGCACACCGCCCCCATTGGACGGGGTGGGGGGAAACAGGCCTGGAGAATCCTGTCACCCATTCTGGGGTTCAGAGCTAGGAGTGGGGCCCATGATTCAATGAGTTTGCTCCTTGCACCCTCCCCAGGAACGATCCCACTCCTGCCCCTCCCCTACACCTTCTGTTTTGATCTTCAGGGATGTCCGGACCAGGGCAAAGAGTGTGGCGTTGAATGTCACCGTCCCATCTGAGTTGAGGGGCATGTTCATTGCCACAAGTCTCTGCAAACACGAGAGACATGAAACCCACTCTGGGAAAATGCCGGGTATGCAGGAACGAATGTCAAGGGGCAGAAACCTCTGAGGATGCGATCAAACACCCCTCCCCACCCAAGGCAGATCCCTTCCCACCCTTGCCATGTGATAGACAGTTCTCTCAGGAGCCTGGGGGTGGGCAGGTGCACAGACCTTGCAGGCCACTCGGTGTGGGCACAGCTTCCCAAATCCCAGAGGGGGCTGGATACGTCTCAGCAGGGCAACCACATCCAAGTGTTTGATNN
|
pathogenic
| 334,211 |
Variant at chromosome X, position 49211319, gene CACNA1F (calcium voltage-gated channel subunit alpha1 F): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Aland_island_eye_disease']
|
TTCCAAGTCCTTTTCATCTTCCTCCTCCACTCCCTCCTGCCCCTCTTCTTCCTCCTCCTCTGTGTCACAGGTGAGGGCCTGCCGCATCTCAGGACCCAAGTCCTGCAGGCTCCGCAGACCAGCCTGTGGGGGTGGAGAAATAGGTAAGCAGGCAGCTCAGGGTCTGAACTTTCCCTCTGTTTCCCCTGCAGGCGGGTAGGGTGGGGGAAGGAGTCCTTCAGCCACCCTGGCCCTCCGTGAGGCCTGGGGCCTCAGTTTCCTTATCTGTGACATGGGTTTCACAAGATCAAAATGGGGGTCAGCCTCAGCCACAGCACTGCCACACGTGCCCATCCACACTAGGCCCTGCCCCGAAGACCTGAAGGGCGGAAGAGGTGCTAGGGGCGGCGTCGTTGCCTAGTAGCCCTTTTTCTTTCCTCCGCCGGAATTTGCGGAAATAGTCCTGGATCAGAAATGTGGCGTAGAATTTGCCCACGGTGACCTCCTCCTCTAGGGGCAAGGGAGAGAAGGCAAGATCACACAGGGGCCCTCTGACCCAGCCCACCTCGCCGCCTCTCTACCCACCAGCATGGACTTCCCCTCGCCCTCTGCCCAGCGCTGGTTTTGTGGTGGAGAGCGATCATCTGCCATTCAGGGGCTGGCGCGGGGAACTGGGGCGGGGATAGCTCACCGTCTGGTGGGGGGATGACCTCATCTAGCAGCTTCTGTTTCATCCGCTTCCAGATCTTTTTGATGACAATCCGCAGCTCCTGGTTGGCTTGCTCCAGGTTCCCTGCGTTGGAGGAGGATGTGGGGCATGAGCCAATAGGAAGAACCTCCACAGCTGCCCCCTCACTGTTGGGTGGGGGGAACTTCACAAGCTGCTACCGCAGATGCACACCGCCCCCATTGGACGGGGTGGGGGGAAACAGGCCTGGAGAATCCTGTCACCCATTCTGGGGTTCAGAGCTAGGAGTGGGGCCCATGATTCAATGAGTTTGCTCCTTGCACCCTCCCCAGGAACGATCCCACTCCTGCCCCTCCCCTACACCTTCTGTTTTGATCTTCAGGGATGTCCGGACCAGGGCAAAGAGTGTGGCGTTGAATGTCACCGTCCCATCTGAGTTGAGGGGCATGTTCATTGCCACAAGTCTCTGCAAACACGAGAGACATGAAACCCACTCTGGGAAAATGCCGGGTATGCAGGAACGAATGTCAAGGGGCAGAAACCTCTGAGGATGCGATCAAACACCCCTCCCCACCCAAGGCAGATCCCTTCCCACCCTTGCCATGTGATAGACAGTTCTCTCAGGAGCCTGGGGGTGGGCAGGTGCACAGACCTTGCAGGCCACTCGGTGTGGGCACAGCTTCCCAAATCCCAGAGGGGGCTGGATACGTCTCAGCAGGGCAACCACATCCAAGTGTTTGATGCGGCCCCTGGAGGAGTTGGGGAGGTACCACTGGATTGGCGATGCCCCCACTAGCCCTTTCTCAAGGCCCCACCAGCTCATCACTACCTCCTCCTACCAATACCCCAGAGCTTGCCAGGGAAGAACTGGAGGGCAGTCAGAGAGGGCAGAGGATGGGGCAGTGGAAACTTTGGGGCATCTATTGACTGGGTAATGAGATGCAGCAGTCGGAGGTTTGGGGGCTAGGGGACTGTGTAGGGCAATACATTGTCCCCTGGATTCTAGGTAAGGGTATAGAGGGCATACTTGGCCCCAGGGTCATATTCAGACCAGATCCTCTTGAATTCATCAAGGTGATGGGGGCCCAGGATGGACCAATCTCTGGTGAGATAATCAAAGTTGTCCATGATCACAGCCACAAAGAGATTTATGATCTGTGGGCCAGTGAGCAAGGGAGCAGTTAGGTGAAGGGCAGAACACTGTCATGGACGGATGGTGGGAGGCTGGGGCGGGCTTATATGGTCATGAGTCTCTGGGTTGATCTTGTCATCAGACCAGCCCTCTCACCCACTATGAAGATCTGGGCTGCCCACGTCACATCCCTGAGCCCCTCAGGGCCAGCCCCCGTGACGGTGGTGGTGGTTGTGAGGAAATGGTTCTCACCAGGAAGGCACAGAGCATGAAGAAGCTGATGAAATAGGCGATGGCAAAATTGCTACCACAGGTAAACTCTTCACCAGGGCCGAAGTCAGACTCAGGATCACACCGATTTCCGGGAAGGCTGGCAAGCATTATCTCCTGCCATGCCTCACCAGTGGCACACCTGGTGGGAGTCACACAGGGGTAGCATCCTGAAGGGGAGGCTATGAAGTCATGGTAAATGGAGTTGGGGGAGGACTGGGGAATGAGGAGATGACCTACTTCTCACCAGGGGCTACATCTGGCACAGATAACATTTCAATATTTTAACAGCCAGTGTGGCCATGTTGACGACAGTCATGTTTGCATCTTACAGATGAGGCACTGAGACCTGAGAAGGGGAGGCGTCTTACAGTCAGAAAGAAAATGGCTGAGGCTAGAATACTCTAACAGACTCCTCACATCATAGCCAGGAAACATCTCGGGCTGTATGGAGCCCCATGCTGCCATATTATTCCCATAGCTCAAGCAGTCTGGGGCTCAGAGAGGGTGGGTGGGCACCCACGGGCATAAGGTGGCAGGGGAGTGAGTAGATGTCACCTGAACAGAAGCAGCACAGCCTGTGGAAAGGTCTGGAAGTTGTTGTTTCGGTTTATCTGTGTGCCATCCTGAAGAGCCACCTTGCCGAACATCTGTGGACACATCAAGGCTGTGTCAGTGGGGTGAACCCATGCCCCACCCATTTCACACCTCCTAATACCTAAAGGAGCCTCATAACCCTGACAAACAGGGCATCACTGCTGATCTCATTTCACAGATGTGTAGATTGACCCAGGGCCGTCCAGCTTGTCTGTCTACCTGCCACCCCTACTTTGGGGCTATTCTTAACCCATCCCCTGCCAGCAGAGGAGTGCTTAAGGGATGCTTCCTAGGGTCCCCACTTGCCTGCATGCCAATGACGGCATAGATGAAGAATATCATTGCGATGAGAAGAGCCACATAGGGCAAGGCCTATAGGGATGGGGGAGGGGGGCAGAGAATAGATGCACAGGCTCAGGCAAAGAACTATAAGCCCCAGAATGCACTGCTTTCCCTGGCCTGGGCCTACTGGGAGATGCAGTCCATCTCCAAAGTGCCAAGGACTGTGGTGTCTCTCAAATGTGAACATAGTGTTAAGTAGATAGAGTAAGGTCAGTGAGACCAGAGGTGTGTTGGAAACTGAGAGCCCAGAAAAAAGAGAAAATTGGAATAATAATTTGGAAATGGGTATGGCATGTTGGGAGATGTAGTTCTGAGGGTGGTAAAGGGGCAGGCTGAGAAGTGTGAAATGGGGGCGAGGTATGGTCAAAGGGATGGGGTAGGGGATTACCTGGAAGGACTTGATGAATGTCCAGAGCAATGTGCGGATCCCTTCACCCTTACTGAGAAGCTTGACCAGCCGCATAACTCGGAAGAGGCGAAAGAAGGTAATGGAAATGCGGGAGCTGTCCTCAGAGCTCTGGGGTGAGGGGTGCAGTAGGGATGCTCAGTTTGCATTTACTCCAGCTATCTCCCTATCTCATGCTTTGGCCCTCCCAGTACCCAAATCACTCAGGCCCTAGGGTAATCTGGAGGGATGGAGGGACAGAGGGACATGGGAAAAGAAGCAGAGAGTCCCTGTTATTAGGGTGGGCTACCTCGCCAAGGTGGCCACCATTCTGGAGGGAGATATGGCCAAGAAAAAGGTGATACAGGAGATGATGACATCATAGGCCCAAATGAACAAGGTGAGATATGATGGAGCAGATATAGGGGGTGATGGTGGGGTCATTACACAGGGGACAATGGGAAAGTTTATATGGTAGTGGATTAGGATTAGGAAAAAGTGGGTAATGGGAATGGAAGGGAGAGGAGAGAGTAAAGGAGGTGATGGATCAGAGACATTGGAGCCAATAGAGGAAATGATGGAACCAGTGGTGTCATAGAGATGATGGAGATGAGAGAACCGATGGAGAAGCCAATGGAGAAGCCAGTGATGGAGATAGGGAACCAGCAGCGTTGTCAGTTGAGGTGACAGAACCATGTAGTAC
|
TTCCAAGTCCTTTTCATCTTCCTCCTCCACTCCCTCCTGCCCCTCTTCTTCCTCCTCCTCTGTGTCACAGGTGAGGGCCTGCCGCATCTCAGGACCCAAGTCCTGCAGGCTCCGCAGACCAGCCTGTGGGGGTGGAGAAATAGGTAAGCAGGCAGCTCAGGGTCTGAACTTTCCCTCTGTTTCCCCTGCAGGCGGGTAGGGTGGGGGAAGGAGTCCTTCAGCCACCCTGGCCCTCCGTGAGGCCTGGGGCCTCAGTTTCCTTATCTGTGACATGGGTTTCACAAGATCAAAATGGGGGTCAGCCTCAGCCACAGCACTGCCACACGTGCCCATCCACACTAGGCCCTGCCCCGAAGACCTGAAGGGCGGAAGAGGTGCTAGGGGCGGCGTCGTTGCCTAGTAGCCCTTTTTCTTTCCTCCGCCGGAATTTGCGGAAATAGTCCTGGATCAGAAATGTGGCGTAGAATTTGCCCACGGTGACCTCCTCCTCTAGGGGCAAGGGAGAGAAGGCAAGATCACACAGGGGCCCTCTGACCCAGCCCACCTCGCCGCCTCTCTACCCACCAGCATGGACTTCCCCTCGCCCTCTGCCCAGCGCTGGTTTTGTGGTGGAGAGCGATCATCTGCCATTCAGGGGCTGGCGCGGGGAACTGGGGCGGGGATAGCTCACCGTCTGGTGGGGGGATGACCTCATCTAGCAGCTTCTGTTTCATCCGCTTCCAGATCTTTTTGATGACAATCCGCAGCTCCTGGTTGGCTTGCTCCAGGTTCCCTGCGTTGGAGGAGGATGTGGGGCATGAGCCAATAGGAAGAACCTCCACAGCTGCCCCCTCACTGTTGGGTGGGGGGAACTTCACAAGCTGCTACCGCAGATGCACACCGCCCCCATTGGACGGGGTGGGGGGAAACAGGCCTGGAGAATCCTGTCACCCATTCTGGGGTTCAGAGCTAGGAGTGGGGCCCATGATTCAATGAGTTTGCTCCTTGCACCCTCCCCAGGAACGATCCCACTCCTGCCCCTCCCCTACACCTTCTGTTTTGATCTTCAGGGATGTCCGGACCAGGGCAAAGAGTGTGGCGTTGAATGTCACCGTCCCATCTGAGTTGAGGGGCATGTTCATTGCCACAAGTCTCTGCAAACACGAGAGACATGAAACCCACTCTGGGAAAATGCCGGGTATGCAGGAACGAATGTCAAGGGGCAGAAACCTCTGAGGATGCGATCAAACACCCCTCCCCACCCAAGGCAGATCCCTTCCCACCCTTGCCATGTGATAGACAGTTCTCTCAGGAGCCTGGGGGTGGGCAGGTGCACAGACCTTGCAGGCCACTCGGTGTGGGCACAGCTTCCCAAATCCCAGAGGGGGCTGGATACGTCTCAGCAGGGCAACCACATCCAAGTGTTTGATGCGGCCCCTGGAGGAGTTGGGGAGGTACCACTGGATTGGCGATGCCCCCACTAGCCCTTTCTCAAGGCCCCACCAGCTCATCACTACCTCCTCCTACCAATACCCCAGAGCTTGCCAGGGAAGAACTGGAGGGCAGTCAGAGAGGGCAGAGGATGGGGCAGTGGAAACTTTGGGGCATCTATTGACTGGGTAATGAGATGCAGCAGTCGGAGGTTTGGGGGCTAGGGGACTGTGTAGGGCAATACATTGTCCCCTGGATTCTAGGTAAGGGTATAGAGGGCATACTTGGCCCCAGGGTCATATTCAGACCAGATCCTCTTGAATTCATCAAGGTGATGGGGGCCCAGGATGGACCAATCTCTGGTGAGATAATCAAAGTTGTCCATGATCACAGCCACAAAGAGATTTATGATCTGTGGGCCAGTGAGCAAGGGAGCAGTTAGGTGAAGGGCAGAACACTGTCATGGACGGATGGTGGGAGGCTGGGGCGGGCTTATATGGTCATGAGTCTCTGGGTTGATCTTGTCATCAGACCAGCCCTCTCACCCACTATGAAGATCTGGGCTGCCCACGTCACATCCCTGAGCCCCTCAGGGCCAGCCCCCGTGACGGTGGTGGTGGTTGTGAGGAAATGGTTCTCCCAGGAAGGCACAGAGCATGAAGAAGCTGATGAAATAGGCGATGGCAAAATTGCTACCACAGGTAAACTCTTCACCAGGGCCGAAGTCAGACTCAGGATCACACCGATTTCCGGGAAGGCTGGCAAGCATTATCTCCTGCCATGCCTCACCAGTGGCACACCTGGTGGGAGTCACACAGGGGTAGCATCCTGAAGGGGAGGCTATGAAGTCATGGTAAATGGAGTTGGGGGAGGACTGGGGAATGAGGAGATGACCTACTTCTCACCAGGGGCTACATCTGGCACAGATAACATTTCAATATTTTAACAGCCAGTGTGGCCATGTTGACGACAGTCATGTTTGCATCTTACAGATGAGGCACTGAGACCTGAGAAGGGGAGGCGTCTTACAGTCAGAAAGAAAATGGCTGAGGCTAGAATACTCTAACAGACTCCTCACATCATAGCCAGGAAACATCTCGGGCTGTATGGAGCCCCATGCTGCCATATTATTCCCATAGCTCAAGCAGTCTGGGGCTCAGAGAGGGTGGGTGGGCACCCACGGGCATAAGGTGGCAGGGGAGTGAGTAGATGTCACCTGAACAGAAGCAGCACAGCCTGTGGAAAGGTCTGGAAGTTGTTGTTTCGGTTTATCTGTGTGCCATCCTGAAGAGCCACCTTGCCGAACATCTGTGGACACATCAAGGCTGTGTCAGTGGGGTGAACCCATGCCCCACCCATTTCACACCTCCTAATACCTAAAGGAGCCTCATAACCCTGACAAACAGGGCATCACTGCTGATCTCATTTCACAGATGTGTAGATTGACCCAGGGCCGTCCAGCTTGTCTGTCTACCTGCCACCCCTACTTTGGGGCTATTCTTAACCCATCCCCTGCCAGCAGAGGAGTGCTTAAGGGATGCTTCCTAGGGTCCCCACTTGCCTGCATGCCAATGACGGCATAGATGAAGAATATCATTGCGATGAGAAGAGCCACATAGGGCAAGGCCTATAGGGATGGGGGAGGGGGGCAGAGAATAGATGCACAGGCTCAGGCAAAGAACTATAAGCCCCAGAATGCACTGCTTTCCCTGGCCTGGGCCTACTGGGAGATGCAGTCCATCTCCAAAGTGCCAAGGACTGTGGTGTCTCTCAAATGTGAACATAGTGTTAAGTAGATAGAGTAAGGTCAGTGAGACCAGAGGTGTGTTGGAAACTGAGAGCCCAGAAAAAAGAGAAAATTGGAATAATAATTTGGAAATGGGTATGGCATGTTGGGAGATGTAGTTCTGAGGGTGGTAAAGGGGCAGGCTGAGAAGTGTGAAATGGGGGCGAGGTATGGTCAAAGGGATGGGGTAGGGGATTACCTGGAAGGACTTGATGAATGTCCAGAGCAATGTGCGGATCCCTTCACCCTTACTGAGAAGCTTGACCAGCCGCATAACTCGGAAGAGGCGAAAGAAGGTAATGGAAATGCGGGAGCTGTCCTCAGAGCTCTGGGGTGAGGGGTGCAGTAGGGATGCTCAGTTTGCATTTACTCCAGCTATCTCCCTATCTCATGCTTTGGCCCTCCCAGTACCCAAATCACTCAGGCCCTAGGGTAATCTGGAGGGATGGAGGGACAGAGGGACATGGGAAAAGAAGCAGAGAGTCCCTGTTATTAGGGTGGGCTACCTCGCCAAGGTGGCCACCATTCTGGAGGGAGATATGGCCAAGAAAAAGGTGATACAGGAGATGATGACATCATAGGCCCAAATGAACAAGGTGAGATATGATGGAGCAGATATAGGGGGTGATGGTGGGGTCATTACACAGGGGACAATGGGAAAGTTTATATGGTAGTGGATTAGGATTAGGAAAAAGTGGGTAATGGGAATGGAAGGGAGAGGAGAGAGTAAAGGAGGTGATGGATCAGAGACATTGGAGCCAATAGAGGAAATGATGGAACCAGTGGTGTCATAGAGATGATGGAGATGAGAGAACCGATGGAGAAGCCAATGGAGAAGCCAGTGATGGAGATAGGGAACCAGCAGCGTTGTCAGTTGAGGTGACAGAACCATGTAGTACN
|
pathogenic
| 334,215 |
Determine whether the variant at chromosome X, position 49216484, in gene CACNA1F (calcium voltage-gated channel subunit alpha1 F) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['CACNA1F-related_disorder', 'Congenital_stationary_night_blindness_2A', 'Retinal_dystrophy']
|
GTTCTTGATTACTAGCTTTTCTTGTAGTTAGGCAAGGCCAGGTTGACTAGTGAGACATAAACATAAATCTGCTGTTGGTTAGCAGCTTGTGTAAAAAAAATTTTGCTTTCCGATGAAAGGATCAAATAAGGAGAGGCCCCAGGTGCAGCTCTCCCTGCCTTGAGTGTGGTTTTGATGCCTGGAGCTGTGATCATGAAACAACAATCATGAAAATGAATGCCAACTTGCTAAGAATGGTGAAGCAGAAAGATAGAGCATGGGTCCCGGATGAACAATGAACAAACAGCCTACCTCTGCACTTCTCAATACATGAGGTAATTACCACAGTTCATTGACTCCAGGAGGCACATCTTTTTACATTTTAGAATCTCTGAAATTGGGGCGCATTTTATAACAAATGGCAACTTACAATGGCCACTGGCTACTTTTTTTTTTTTTTCCACATTCTTACATCTCCGAAATCAGAATGCAACTTACAAGTACTGGCCATAGACTTAAAGAAATGTGGCAAATGTCTTTATAGCTTAAGTTGCTGTTAGTTGGCAGGGGGTTTGTTATTTGCAGCCTTAAATGTTCCCAATGGTTCCCAAGGGATTATGTGGAGATAATAGGGTCAGGAGTCTGGCGGGGGTCAGGCAGGGATCTCAGACCTGCATGGCTAGGGCAACTGTGTTGAGCAGGATGAGCAGGAACATCAGGTACTCAAAGGCAGCAGAGTTCACAGTGGCCCACACACGATACTGATGCGGGTTCTTGGGGATGTAACGGCGGAGTGGCTGGGCCTTGAGGGCATATTCCACACATTGACGCTGCATACCAGGGCAGGGCATGAGTGAGCAGTGGGGTCCTGAGGCAAGGAGGGAAGGGTTGGTGACCATCCATAGGGGGTCAGGGGTCAGAGGTCACCTGGTTCTTGTCCAGCTCACAGTTTTGGTACTCCTGCTCGCCCTGGGCACGGAAAGTGATGATGACGAAGCCCACGAAGATGTTCATCATGAAGAACGCAATGATGATGATGTAGACAATGAAGAACACTGAGATCTCCACACGGTAATTATAGATGGGGCCGTGGTCCTCTGCATATGCATCGATGGCCTTGTATAGCAGTCTGTGGGAGCCAGAGGGGGGGTAGAGGTGGGGGCAGGTGAGGGGATATCCCAGCCCCCTCAGACCTGCCCCCAGTCTACTTATCACAGACACCCCAGAGTTTCCTGCCTGGCACCCCAAAGACCCCTAAATCTCCTGACCTAACCACCTGGGACCTCCATACATACTCTAAGAGACCTCTACCAGGCCCTCAAAGAGTCCAAATCCTCTGTCCCATGCCCTCAGAAACCCCCATAGAGTCCTCCAGAGAATCTCCATTCAGAACCTCAAAGACCCAGAAATCCCCTAAGTTTCCACAGACCTTCAAATCCCCTTCTCCAACCACTTGGAGACCCCCATGCGCCTCCCCAGAACTTCCACACAAGCCCCCAACGATCTGTAAATTTATCCCTGTCCCATCAACTTGAATCCCCACTCCATCTCCCCACAGAGCCCCACAATGAGTATCCCAAAGACCTGCACAGCTTTCTAGAAATCGCTGAATCCCTGCTTCATCTCTTCAGAGACCAATCCCAGTCCCCTCAGACCTCCACTCTGTCCCCCCAAACCATCTCCAATCCTTTCCAGGCTTCTATCTAGCTACCTAGTCCCTTAGAAACCGCTGTCCAATTCCTGGAGACCCCTCACTCAAGTCCCCAAAGAACCCCCACCCAGCTTCTGGGAACTCCACCTCTACAGTCCTCTGATACACCCACCACTCTCCAGAAAACCCTATCCAGTCTCGAGAGACCTTCGTCACATCCCCAAGGTACACTCCCACCCATTCCCAGGAGATCCCAACCCAATCCTGCAGAGACCCCTGCCTCATCCCCTGATAAACCCAGGGCCCTGTCCCTCACGCAGGCCAGCCTTCAAAGGTGGAGACAGTGAACAGGGCCATCATGGCTGAAAGGACATTGTCAAAGTTGAAATCACTGTTGACCCAGAGCCGCTCCCGGACCAGGGGCCGTGACACGTCTCCATCTGGGTATACCAGGAAGGAGCCCCTGTGGATGTGCAAACAGGTTAGATGGGTGAGGAGGGGTGAGGAACTGGGGAAAGGGTCTGGGGTCTCCAGCATGGAGGCAGCAGGACATAGTGGTGGAGCAATATGTTCTAGGTTCAAATCCTGTCCCTCCATGTCCTGGCTGGGTGACCTTGCGCATTTACCCTTTCTGTGCTTCTGTTTCCCCATTCTAAGAAATAAGGATAATAACAGAATCGATTTCCTGGCTTGTCACAAGGATTAATAAATGTCACAAGTCAATAAATGAGACTAGTGTCTGGCACATAGTTGGCATCATTTCATCATCACCATTATCATCCTCATCATCGCCCACCAGGAAAAAGTAAAACGAATAATAGCCAACGTTTATTAGCAGTAACTATATGCCAGGCACTGAACTAGATTTTCTTTTTCTTCTCTTCTTTTCTATTCTCTCTTTTTTTTTGAGACGGAGTCTTGAAAAAGACTCTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCCTCCTCATCTTCCCGAGTAGCTGGGATTACAGGTGCACAACACCAAGCCCAGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGCTGACTAGGCTGGTGTCGAACTCCCAACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAAGCTAGGTTTTCTGTGTAGCAACTTTACATTGTACAAAGTACATTTTCCATGTAGTAGCTCATTTACTCTTCACAACAGCCTTGTGAGATAGGCACTGTTTAGCCCCGTTTTTCAGTTGAGTGAAATGGAACTGAGTAAGTTTAAGAAATGTACCTAAGTCTCATGAAGTGGATTTGAACCGTAATGTCTGACTTCACAGCCCAGGCTTTTAGCTACTACCCTCTACAGGAGTCTCAAGATGGAAGCTGGGGGCTCAGGGTGGGAATGGTGATTGCTAATGGGTCTGGAGTGGAATGTAGGTCACTTGGGGAATGCGGAGAGGGATTTGGGGGAGGTATCGGGGGGCCGCCGAAGACTTGGTGAGATCTGAGGGCCTCTGCAGTTCTTGGGACAATTCTGGGACTATATCTTTGGGCCTTGGTGAGATCTAGAGGCTCTAAAGTCTTTGGGAGGGGTCCTGAGCTCCGTGGACGGCAGGGTCTTGGGCACTCACTTGCATTCTTGAGGGGTGTGTTTGGCCTCGTCCGTGCAGGTGTAGAATTTCCCCTGTAGAGAGGATGTCTGTCAAGTAGGTTCACCCTTCATCACACTCCCGCCCAGACCCCTGCCTGGCATTCCCTCCAGTGTTTGCCCCACCTTGAAGAGCTGCACCCCGATGCAGGCGAACATAAATTGCAGAAGTGTGGTGACAATCATGATGTTTCCGATGGTCCGGATGGCCACAAATACACACTGCACCACATGCTGCGGGCACCCAAGCATATGGCTACTGAACACTACAGGCCACAGTGGTCATGGGGCAGGGACTCTGGTCATAGATGCAGCTGAGGGACTTGGGCTGGGGACATGTGGTGATGGGTCAGGGATGTATGGTTAGCAACATGTGTTCAAGAGGCAGTGTTATGGGCTAGAGACGTGTGGGCATCCACCAGGAATAAGTGTTTGCCGGGTGGGGATCTGTGGCCACCTGTCAGGGAGCTGGGTCTGAGAAATGTGGCCACTGGTAGAAACATATGGTCACTTGGAAGGAACATGGGTCAGGCCACATGGCTAGTGGTCAGAGATGTGTATTTATGTGTCAGGTCCAGGCCGTATGGTCATGCATCCGTGCAAATGGTCAGTTTGATCAGTGATCCTGGCCCCAGGGGCAGGGCAGGGCCTGGGTCCTGTGGGTTTGGGTGGGGTGGGGTTACCTTGAGTCCCTTGGCCCTGTTGATGGCTCGGAGGGGCCGCAGTACTCGGAGTACTCGCAGAATCTTCACCACCGAGA
|
GTTCTTGATTACTAGCTTTTCTTGTAGTTAGGCAAGGCCAGGTTGACTAGTGAGACATAAACATAAATCTGCTGTTGGTTAGCAGCTTGTGTAAAAAAAATTTTGCTTTCCGATGAAAGGATCAAATAAGGAGAGGCCCCAGGTGCAGCTCTCCCTGCCTTGAGTGTGGTTTTGATGCCTGGAGCTGTGATCATGAAACAACAATCATGAAAATGAATGCCAACTTGCTAAGAATGGTGAAGCAGAAAGATAGAGCATGGGTCCCGGATGAACAATGAACAAACAGCCTACCTCTGCACTTCTCAATACATGAGGTAATTACCACAGTTCATTGACTCCAGGAGGCACATCTTTTTACATTTTAGAATCTCTGAAATTGGGGCGCATTTTATAACAAATGGCAACTTACAATGGCCACTGGCTACTTTTTTTTTTTTTTCCACATTCTTACATCTCCGAAATCAGAATGCAACTTACAAGTACTGGCCATAGACTTAAAGAAATGTGGCAAATGTCTTTATAGCTTAAGTTGCTGTTAGTTGGCAGGGGGTTTGTTATTTGCAGCCTTAAATGTTCCCAATGGTTCCCAAGGGATTATGTGGAGATAATAGGGTCAGGAGTCTGGCGGGGGTCAGGCAGGGATCTCAGACCTGCATGGCTAGGGCAACTGTGTTGAGCAGGATGAGCAGGAACATCAGGTACTCAAAGGCAGCAGAGTTCACAGTGGCCCACACACGATACTGATGCGGGTTCTTGGGGATGTAACGGCGGAGTGGCTGGGCCTTGAGGGCATATTCCACACATTGACGCTGCATACCAGGGCAGGGCATGAGTGAGCAGTGGGGTCCTGAGGCAAGGAGGGAAGGGTTGGTGACCATCCATAGGGGGTCAGGGGTCAGAGGTCACCTGGTTCTTGTCCAGCTCACAGTTTTGGTACTCCTGCTCGCCCTGGGCACGGAAAGTGATGATGACGAAGCCCACGAAGATGTTCATCATGAAGAACGCAATGATGATGATGTAGACAATGAAGAACACTGAGATCTCCACACGGTAATTATAGATGGGGCCGTGGTCCTCTGCATATGCATCGATGGCCTTGTATAGCAGTCTGTGGGAGCCAGAGGGGGGGTAGAGGTGGGGGCAGGTGAGGGGATATCCCAGCCCCCTCAGACCTGCCCCCAGTCTACTTATCACAGACACCCCAGAGTTTCCTGCCTGGCACCCCAAAGACCCCTAAATCTCCTGACCTAACCACCTGGGACCTCCATACATACTCTAAGAGACCTCTACCAGGCCCTCAAAGAGTCCAAATCCTCTGTCCCATGCCCTCAGAAACCCCCATAGAGTCCTCCAGAGAATCTCCATTCAGAACCTCAAAGACCCAGAAATCCCCTAAGTTTCCACAGACCTTCAAATCCCCTTCTCCAACCACTTGGAGACCCCCATGCGCCTCCCCAGAACTTCCACACAAGCCCCCAACGATCTGTAAATTTATCCCTGTCCCATCAACTTGAATCCCCACTCCATCTCCCCACAGAGCCCCACAATGAGTATCCCAAAGACCTGCACAGCTTTCTAGAAATCGCTGAATCCCTGCTTCATCTCTTCAGAGACCAATCCCAGTCCCCTCAGACCTCCACTCTGTCCCCCCAAACCATCTCCAATCCTTTCCAGGCTTCTATCTAGCTACCTAGTCCCTTAGAAACCGCTGTCCAATTCCTGGAGACCCCTCACTCAAGTCCCCAAAGAACCCCCACCCAGCTTCTGGGAACTCCACCTCTACAGTCCTCTGATACACCCACCACTCTCCAGAAAACCCTATCCAGTCTCGAGAGACCTTCGTCACATCCCCAAGGTACACTCCCACCCATTCCCAGGAGATCCCAACCCAATCCTGCAGAGACCCCTGCCTCATCCCCTGATAAACCCAGGGCCCTGTCCCTCACGCAGGCCAGCCTTCAAAGGTGGAGACAGTGAACAGGGCCATCATGGCTGAAAGGACATTGTCAAAGTTGAAATCACTGTTGACCCAGAGCCGCTCCCGGACCAGGGGGCCGTGACACGTCTCCATCTGGGTATACCAGGAAGGAGCCCCTGTGGATGTGCAAACAGGTTAGATGGGTGAGGAGGGGTGAGGAACTGGGGAAAGGGTCTGGGGTCTCCAGCATGGAGGCAGCAGGACATAGTGGTGGAGCAATATGTTCTAGGTTCAAATCCTGTCCCTCCATGTCCTGGCTGGGTGACCTTGCGCATTTACCCTTTCTGTGCTTCTGTTTCCCCATTCTAAGAAATAAGGATAATAACAGAATCGATTTCCTGGCTTGTCACAAGGATTAATAAATGTCACAAGTCAATAAATGAGACTAGTGTCTGGCACATAGTTGGCATCATTTCATCATCACCATTATCATCCTCATCATCGCCCACCAGGAAAAAGTAAAACGAATAATAGCCAACGTTTATTAGCAGTAACTATATGCCAGGCACTGAACTAGATTTTCTTTTTCTTCTCTTCTTTTCTATTCTCTCTTTTTTTTTGAGACGGAGTCTTGAAAAAGACTCTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCCTCCTCATCTTCCCGAGTAGCTGGGATTACAGGTGCACAACACCAAGCCCAGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGCTGACTAGGCTGGTGTCGAACTCCCAACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAAGCTAGGTTTTCTGTGTAGCAACTTTACATTGTACAAAGTACATTTTCCATGTAGTAGCTCATTTACTCTTCACAACAGCCTTGTGAGATAGGCACTGTTTAGCCCCGTTTTTCAGTTGAGTGAAATGGAACTGAGTAAGTTTAAGAAATGTACCTAAGTCTCATGAAGTGGATTTGAACCGTAATGTCTGACTTCACAGCCCAGGCTTTTAGCTACTACCCTCTACAGGAGTCTCAAGATGGAAGCTGGGGGCTCAGGGTGGGAATGGTGATTGCTAATGGGTCTGGAGTGGAATGTAGGTCACTTGGGGAATGCGGAGAGGGATTTGGGGGAGGTATCGGGGGGCCGCCGAAGACTTGGTGAGATCTGAGGGCCTCTGCAGTTCTTGGGACAATTCTGGGACTATATCTTTGGGCCTTGGTGAGATCTAGAGGCTCTAAAGTCTTTGGGAGGGGTCCTGAGCTCCGTGGACGGCAGGGTCTTGGGCACTCACTTGCATTCTTGAGGGGTGTGTTTGGCCTCGTCCGTGCAGGTGTAGAATTTCCCCTGTAGAGAGGATGTCTGTCAAGTAGGTTCACCCTTCATCACACTCCCGCCCAGACCCCTGCCTGGCATTCCCTCCAGTGTTTGCCCCACCTTGAAGAGCTGCACCCCGATGCAGGCGAACATAAATTGCAGAAGTGTGGTGACAATCATGATGTTTCCGATGGTCCGGATGGCCACAAATACACACTGCACCACATGCTGCGGGCACCCAAGCATATGGCTACTGAACACTACAGGCCACAGTGGTCATGGGGCAGGGACTCTGGTCATAGATGCAGCTGAGGGACTTGGGCTGGGGACATGTGGTGATGGGTCAGGGATGTATGGTTAGCAACATGTGTTCAAGAGGCAGTGTTATGGGCTAGAGACGTGTGGGCATCCACCAGGAATAAGTGTTTGCCGGGTGGGGATCTGTGGCCACCTGTCAGGGAGCTGGGTCTGAGAAATGTGGCCACTGGTAGAAACATATGGTCACTTGGAAGGAACATGGGTCAGGCCACATGGCTAGTGGTCAGAGATGTGTATTTATGTGTCAGGTCCAGGCCGTATGGTCATGCATCCGTGCAAATGGTCAGTTTGATCAGTGATCCTGGCCCCAGGGGCAGGGCAGGGCCTGGGTCCTGTGGGTTTGGGTGGGGTGGGGTTACCTTGAGTCCCTTGGCCCTGTTGATGGCTCGGAGGGGCCGCAGTACTCGGAGTACTCGCAGAATCTTCACCACCGAG
|
pathogenic
| 334,230 |
Benign or pathogenic: chromosome X, position 49219765, gene CACNA1F (calcium voltage-gated channel subunit alpha1 F) variant? Disease(s) if pathogenic?
|
benign
|
TCCTGAGCTCCGTGGACGGCAGGGTCTTGGGCACTCACTTGCATTCTTGAGGGGTGTGTTTGGCCTCGTCCGTGCAGGTGTAGAATTTCCCCTGTAGAGAGGATGTCTGTCAAGTAGGTTCACCCTTCATCACACTCCCGCCCAGACCCCTGCCTGGCATTCCCTCCAGTGTTTGCCCCACCTTGAAGAGCTGCACCCCGATGCAGGCGAACATAAATTGCAGAAGTGTGGTGACAATCATGATGTTTCCGATGGTCCGGATGGCCACAAATACACACTGCACCACATGCTGCGGGCACCCAAGCATATGGCTACTGAACACTACAGGCCACAGTGGTCATGGGGCAGGGACTCTGGTCATAGATGCAGCTGAGGGACTTGGGCTGGGGACATGTGGTGATGGGTCAGGGATGTATGGTTAGCAACATGTGTTCAAGAGGCAGTGTTATGGGCTAGAGACGTGTGGGCATCCACCAGGAATAAGTGTTTGCCGGGTGGGGATCTGTGGCCACCTGTCAGGGAGCTGGGTCTGAGAAATGTGGCCACTGGTAGAAACATATGGTCACTTGGAAGGAACATGGGTCAGGCCACATGGCTAGTGGTCAGAGATGTGTATTTATGTGTCAGGTCCAGGCCGTATGGTCATGCATCCGTGCAAATGGTCAGTTTGATCAGTGATCCTGGCCCCAGGGGCAGGGCAGGGCCTGGGTCCTGTGGGTTTGGGTGGGGTGGGGTTACCTTGAGTCCCTTGGCCCTGTTGATGGCTCGGAGGGGCCGCAGTACTCGGAGTACTCGCAGAATCTTCACCACCGAGATGGCGCTGGAGCTGGGGAAGGGGCAATCCTCAGGCATTGGCCCTGGCTGGGCCCTGGCTGTGAGAGGAATGGGGTGGGCTGGGGATCTGTCACTTACTGGATGCCAAAGGAGATGAGGGACACACTGACCACCAGCAGATCCAACATATTAAACCAGCTACGGCAGAAGGAGCCGCGGTGCAGGAAGGCCCCAAACACTGTCATCTGGGGACAGGACAAGAGGCTAGACTCAGACCTGGGGATGGTGGGGGTTGGGGGAGGTGGGGATGGGGACAGGAGAGGTGGGCTGCAAGAACCGGTGGGGAGAGTGCCAGGGCAACTGAGGGTAGGACTGGGGTCCCATTAGTCACCTTTAGTAGAATCTCCACAGTGAAAATGGAGGTGAAGGCATAATCGAAGTAACCCAGAATCTGGGGTGTGAGAAAGAGCGGGGAGCCACTGAGTCACGGCTGAGGGGGATCCTAGGTGACTTCTCAAAAGGCTTGGCCATCAGAAAGATTAGGGTTCAAATTTGGACCCTTCTGCCTCTACCCAGCTACATGGGCGCCTTTGGCCTGCTTAACCTCTCTGAGCACAGCTTCCTCCTCAGTCAAATATTGATCTCCTCCCTGGTGCTTCCCCGTGTGTTGCACATGCCGTAAAGGCTGGCATTGCATCAGCTGCGTTAATGAGCCCCTCTCTCGGCTCACCTAGGGCTCTTCTCCTTATCTCCACCCTGACCCAGCTTGTGCCCACTAGGACACCCCTGGGAGTGTCCCCTCAGCTCCTAGCTCCCAGCCAAAGGCTCACATGGTTGCGGAAGGAGTGGGCTCGGATGGGGTCCTCAGCGGCCAGGGACACACTGCTGAGGATGATGAACACCAGGATAAGATTGGTGAAGACATGATGGTGGATGAGGGTGTGGCAGCCCTTCCTCAGCCTGTGGAGAGGGAGTGGGCCATGGTCAGAACTCAGGACCACAGAATTGTTCAGGGATTCCAAGGGATACAGTTCTGGCCCTGACACAACACCCATGCCCCCACTCCCACCTTGGCTGCTCCTCCATGCTCCTCCACCTGCCCTAGCCCCTCCTGCCTCACCCCCTGCCACTTCCGGCACTCACGGGTTGGTTTGGCTGAGGCAGAAGAAGGCGCTGCCCTCAGGGATGGGTACCACCTTCTCCTTGGGTACAACTTCCTGCAGGAGTTCCACACCCCCTGCACCCTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCCTCCTCCTCCTCCTCCATGTCTGGCACCAGAGAAAAGCAAAAAAAAATTAATTGAGCAAGTTGATGTAAAGCACCCAGAACAGTGTTTGCCACGTGGTCAATTCTTCCCATTTCCCTGCTAGAATGTCAGCTCCTCCAGGAAGGTATTTTAGTCTGTTTTGTATGCTGCTATGTCCACAGCACTTAGAACAGTGCCTGGGACACAGTAGGAGCTCAGTAAATGTGTGTTGAAAGAATGTTGTATATACAGACTATTTTATAATAAAGGCTCTGAGAAGTTCAGCAGTAAACAAAACGTGTTTCTCTTCTTCTTGTTTTTCTTTAAAGATAGGGTCTTACTCTGCTCCCCCAGGCTGGACTTCAGTGGTGCCATCATGGCTCACTGCAACCTTGAACTTCTGGGCTCAAGCAATCCTCCTACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCTTGCATCATCATGCTTGGCTAATTAATTTCTTTTTTAGAGATGGGGTCTTGCTATGTTGCCCAGGCTGCATTTCCCTTCTTTAACCTCAATGTTCCCAAATGTTGCTGACCACATACCAAGTCTGTTATTTTCAGGATGATCTTGGAAAAGGCTGATCTCTGGAGAGGAGGGTCTCAGGGGTCAGGAGCTGTCTGCCTGAGCTCTTTCCCCAAGGTCCCACACCTGCTCCACCTGGCCCTGCCCACTTGCCTGCTCCTTCCCTCCTTGCACCCTCCTCTTCCTCTTTCTCCACACCAGGCACCTGAGGACAGGAAGACGGGAGTCATCAATGGTGAGGGAGACACAGGGAATGGACACAGGGGAGGCATGGAAGAAATGTAATAATAGGGGAAAGAATAGGCAGAGGATGAAGGTTAAAGACATGCACATATGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTTTCAAAAATAACAAAAATTAGCCGAGTGTGGTGGCGCATGCCTGTAAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGGACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATGGCACAACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTATCTCAAAATAAAACAACAACAACAAAAAAACAGATATGCACACATAGACAGGTAGTGGTGGGAGTGGGAGGTGTAGACAGTGCCCAGGCATCTAACTCACCAGGCCTTCATTCTCCTGTGGGAGATCCTTCTCATTGCTCTTCTCCCTGTGCGAGGAAATAGGGGTGATTGCTGCAGATGGGCTAAGGGAGATCACTACAGTCAGAACAGACCTTTCTTGGGTCCCATAGAACTTTCTTGCTTCCGCTCTTCCCCACTGCCCCTCCCAACAGTCCGTTCTCAAAGCAGCCAGAGGGAGCCTGTTAAACCCTGTCTGGGATATCCCAACTCTGCCCACAACCCTCCCACGTCTCCTTAATTCAGGAAAAACTACAGTCCTCACCCTGGCCCAGAATGCCCTCAATCTGGCCCTCCATTTCCTCCACTGACCTTCACTCCATACCACTCTCCTCCTTCCTCACTCCATTCCAGCCTCACTGTTTTTATTTTTTTGAGACGGAGTCTCACTCTATTGCTCAGGCTAGAGGGCAGTGGTGCGATATTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGAGCTTGTCCAGCTAATTTTCTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGGCCTCGAACTCCTAAGCTCAGGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCGGGCATCGCTGGTATTTTTTGAAAGTGCTAAGAATGTGGTCAGGTGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTTAGGAGTTCAAGACCAGCCTTGCCAACATGGTGAAACCCCATCT
|
TCCTGAGCTCCGTGGACGGCAGGGTCTTGGGCACTCACTTGCATTCTTGAGGGGTGTGTTTGGCCTCGTCCGTGCAGGTGTAGAATTTCCCCTGTAGAGAGGATGTCTGTCAAGTAGGTTCACCCTTCATCACACTCCCGCCCAGACCCCTGCCTGGCATTCCCTCCAGTGTTTGCCCCACCTTGAAGAGCTGCACCCCGATGCAGGCGAACATAAATTGCAGAAGTGTGGTGACAATCATGATGTTTCCGATGGTCCGGATGGCCACAAATACACACTGCACCACATGCTGCGGGCACCCAAGCATATGGCTACTGAACACTACAGGCCACAGTGGTCATGGGGCAGGGACTCTGGTCATAGATGCAGCTGAGGGACTTGGGCTGGGGACATGTGGTGATGGGTCAGGGATGTATGGTTAGCAACATGTGTTCAAGAGGCAGTGTTATGGGCTAGAGACGTGTGGGCATCCACCAGGAATAAGTGTTTGCCGGGTGGGGATCTGTGGCCACCTGTCAGGGAGCTGGGTCTGAGAAATGTGGCCACTGGTAGAAACATATGGTCACTTGGAAGGAACATGGGTCAGGCCACATGGCTAGTGGTCAGAGATGTGTATTTATGTGTCAGGTCCAGGCCGTATGGTCATGCATCCGTGCAAATGGTCAGTTTGATCAGTGATCCTGGCCCCAGGGGCAGGGCAGGGCCTGGGTCCTGTGGGTTTGGGTGGGGTGGGGTTACCTTGAGTCCCTTGGCCCTGTTGATGGCTCGGAGGGGCCGCAGTACTCGGAGTACTCGCAGAATCTTCACCACCGAGATGGCGCTGGAGCTGGGGAAGGGGCAATCCTCAGGCATTGGCCCTGGCTGGGCCCTGGCTGTGAGAGGAATGGGGTGGGCTGGGGATCTGTCACTTACTGGATGCCAAAGGAGATGAGGGACACACTGACCACCAGCAGATCCAACATATTAAACCAGCTACGGCAGAAGGAGCCGCGGTGCAGGAAGGCCCCAAACACTGTCATCTGGGGACAGGACAAGAGGCTAGACTCAGACCTGGGGATGGTGGGGGTTGGGGGAGGTGGGGATGGGGACAGGAGAGGTGGGCTGCAAGAACCGGTGGGGAGAGTGCCAGGGCAACTGAGGGTAGGACTGGGGTCCCATTAGTCACCTTTAGTAGAATCTCCACAGTGAAAATGGAGGTGAAGGCATAATCGAAGTAACCCAGAATCTGGGGTGTGAGAAAGAGCGGGGAGCCACTGAGTCACGGCTGAGGGGGATCCTAGGTGACTTCTCAAAAGGCTTGGCCATCAGAAAGATTAGGGTTCAAATTTGGACCCTTCTGCCTCTACCCAGCTACATGGGCGCCTTTGGCCTGCTTAACCTCTCTGAGCACAGCTTCCTCCTCAGTCAAATATTGATCTCCTCCCTGGTGCTTCCCCGTGTGTTGCACATGCCGTAAAGGCTGGCATTGCATCAGCTGCGTTAATGAGCCCCTCTCTCGGCTCACCTAGGGCTCTTCTCCTTATCTCCACCCTGACCCAGCTTGTGCCCACTAGGACACCCCTGGGAGTGTCCCCTCAGCTCCTAGCTCCCAGCCAAAGGCTCACATGGTTGCGGAAGGAGTGGGCTCGGATGGGGTCCTCAGCGGCCAGGGACACACTGCTGAGGATGATGAACACCAGGATAAGATTGGTGAAGACATGATGGTGGATGAGGGTGTGGCAGCCCTTCCTCAGCCTGTGGAGAGGGAGTGGGCCATGGTCAGAACTCAGGACCACAGAATTGTTCAGGGATTCCAAGGGATACAGTTCTGGCCCTGACACAACACCCATGCCCCCACTCCCACCTTGGCTGCTCCTCCATGCTCCTCCACCTGCCCTAGCCCCTCCTGCCTCACCCCCTGCCACTTCCGGCACTCACGGGTTGGTTTGGCTGAGGCAGAAGAAGGCGCTGCCCTCAGGGATGGGTACCACCTTCTCCTTGGGTACAACTTCCTGCAGGAGTTCCACACCCCCTGCACCCTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCATGTCTGGCACCAGAGAAAAGCAAAAAAAAATTAATTGAGCAAGTTGATGTAAAGCACCCAGAACAGTGTTTGCCACGTGGTCAATTCTTCCCATTTCCCTGCTAGAATGTCAGCTCCTCCAGGAAGGTATTTTAGTCTGTTTTGTATGCTGCTATGTCCACAGCACTTAGAACAGTGCCTGGGACACAGTAGGAGCTCAGTAAATGTGTGTTGAAAGAATGTTGTATATACAGACTATTTTATAATAAAGGCTCTGAGAAGTTCAGCAGTAAACAAAACGTGTTTCTCTTCTTCTTGTTTTTCTTTAAAGATAGGGTCTTACTCTGCTCCCCCAGGCTGGACTTCAGTGGTGCCATCATGGCTCACTGCAACCTTGAACTTCTGGGCTCAAGCAATCCTCCTACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCTTGCATCATCATGCTTGGCTAATTAATTTCTTTTTTAGAGATGGGGTCTTGCTATGTTGCCCAGGCTGCATTTCCCTTCTTTAACCTCAATGTTCCCAAATGTTGCTGACCACATACCAAGTCTGTTATTTTCAGGATGATCTTGGAAAAGGCTGATCTCTGGAGAGGAGGGTCTCAGGGGTCAGGAGCTGTCTGCCTGAGCTCTTTCCCCAAGGTCCCACACCTGCTCCACCTGGCCCTGCCCACTTGCCTGCTCCTTCCCTCCTTGCACCCTCCTCTTCCTCTTTCTCCACACCAGGCACCTGAGGACAGGAAGACGGGAGTCATCAATGGTGAGGGAGACACAGGGAATGGACACAGGGGAGGCATGGAAGAAATGTAATAATAGGGGAAAGAATAGGCAGAGGATGAAGGTTAAAGACATGCACATATGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTTTCAAAAATAACAAAAATTAGCCGAGTGTGGTGGCGCATGCCTGTAAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGGACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATGGCACAACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTATCTCAAAATAAAACAACAACAACAAAAAAACAGATATGCACACATAGACAGGTAGTGGTGGGAGTGGGAGGTGTAGACAGTGCCCAGGCATCTAACTCACCAGGCCTTCATTCTCCTGTGGGAGATCCTTCTCATTGCTCTTCTCCCTGTGCGAGGAAATAGGGGTGATTGCTGCAGATGGGCTAAGGGAGATCACTACAGTCAGAACAGACCTTTCTTGGGTCCCATAGAACTTTCTTGCTTCCGCTCTTCCCCACTGCCCCTCCCAACAGTCCGTTCTCAAAGCAGCCAGAGGGAGCCTGTTAAACCCTGTCTGGGATATCCCAACTCTGCCCACAACCCTCCCACGTCTCCTTAATTCAGGAAAAACTACAGTCCTCACCCTGGCCCAGAATGCCCTCAATCTGGCCCTCCATTTCCTCCACTGACCTTCACTCCATACCACTCTCCTCCTTCCTCACTCCATTCCAGCCTCACTGTTTTTATTTTTTTGAGACGGAGTCTCACTCTATTGCTCAGGCTAGAGGGCAGTGGTGCGATATTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGAGCTTGTCCAGCTAATTTTCTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGGCCTCGAACTCCTAAGCTCAGGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCGGGCATCGCTGGTATTTTTTGAAAGTGCTAAGAATGTGGTCAGGTGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTTAGGAGTTCAAGACCAGCCTTGCCAACATGGTGAAACCCCA
|
benign
| 334,240 |
A genetic variant at chromosome X, position 49228310, affecting gene CACNA1F (calcium voltage-gated channel subunit alpha1 F)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Cone-rod_dystrophy', 'Congenital_stationary_night_blindness']
|
GGGAGGTGTGTGTCGTAAAGGGCAGAAGGGGTGTCAGTGACTGGGGCCAGAGGTCAAGGACTGAGATCGAGGCTTGAGGCTAAAGAAAGGACTTGAGTCAGGGTTTGGACTGGCTTCTGGGCTGGGTCAGGGGCTGGGGGCCCTCACAGGCAGCGTGTACAGCTGGCCAGAGCCCCCTCCTCCTCATCCTCATCGCCTTGGGTCTCTGTCATGGAACCGGTGTCACTGGCTGGGAGGCTGGCTGTAGGCAAGGTGGGGATAGTGGTCAGGACCTGAAGACCCCGAGGTCCAATCTTTGGCTTTCACCTCTGCCTACCCACCCCCACCCCAGCCTGGCTGGACCCCCACCATGGCTGCTGGTGGAGTGTGTGGAGCGAGTAGAATGACTGAACCAGCGCAGACGTCCACGCCTCCTATTGGTCAGCTCGGCCAGCTGTGGCCCTGCAGGGAGAGAAAGGACAATTAGGGAGGACATACTGGGGGCAGGGTTAGGGCCATGTCTAGGGTAGGGGTGTCATTTGGAGTCTTTATAGCTGAGGCTGGTCTTGATTCTGCATTTTGAGCCATAACTTGGGGGCTGGGGCTAGAGTTGTTGCAGATCAGGCCTGGGTGGGTCTCAGGAGGGCAGACCACATCTAAGGCATGCAGGGAATGGGCCAGATTGGAGTTGCCTACGATGGCCCGCCCGGCCCTCTTCAGCCATAGAACCAAGGTTGTCATCGGCGGAGGGGTCCTCCATGTCCAGCTCTTCGGCTTGAGTGATCCAGTCCAGGTAGCCCCGCAGGTCTTCCTCCATCTGCTGCTTCTCCCGCTGCTTCTGGAAGTCCCCGCGAGCTTTCGCTTTCTCTCTCTCCTTGGAGAACTCCCTGAGGGAGGAGGATAGAGGGCTAGGGGGAGGAGCCAATCTGAACACCTTGCTTTCATCACTCCAGCCACACTAGCCTCCTAGCTACTCTTTGAATATGCCAAGCACATTCTAGCCTCAGGGCCTTTGCACTGACCATTCTCTTTGCTTGGAATGCTTTTCCCTCAGATAACCACATGGTGCACCCACCTCATCTCTTTTTTTTTCTTTTCCCCAGATACAGGGTCTCACTCTATCACTCAGGGTGGAGTGCAGTGGTGTGATCATAGCTCACCGCAGCCTCGACCTCCTGGGCTCAAGCGATCCTTCCACCTCAGCTTCCTGAGTAGCTAGGACTACAGGTGTGCGCCACCATGCCCAGCTATTTTTGTTCATTTTTTGTAAAGATGAAGTCTCACTATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCCATCCTCCTGCCTTGGCCTCCCATAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTCTTTCACATTTTTACTCAAATAACACCTTGTCAAGACAGCCTTTCCTGACATCCCTATTTATAATCACAAGATCTCTCCATTCTTATCTTTTATCTTTCCTTTCTTTCCACAGTACATATTCCATATAAAACACTATATATATGTGTGTGCCAATATATAAATGCACACACTTATTTTATTGCATATGTTGCTACTTTCTGTCTCTCCCCATCAGAATGTAAAACCAGGAAGGCAGAGATTTTTGTCTTTTGTTCCACTCCTAAAATGGTGCCTCACATACAATAGATGCTCATGATTGAATGAAGGAGTATTTCAGATGGGTTTTGAAGGATGTCTAGGAGTTTGCCAGGCACAAAGAAGTGGGCAGTGGCTGAGGGGTGGGAAGCAGGGAGTGTCTAGGTCTCTCACCCACTCAGGACGCCAAGCACAAGGTTGAGGACGAAGAAGGACCCAAAGATGACAAGGCTCACAAAGTACACCCAGGGCAGTTCATACCCCATGGCATCTTGCATCTGGGGAGAGAAAAGGCATGCATCCCTCAGGGTAGGCAGACACTCCTGCGTGAGTGTCAGGGAGGAAAGGCAGGTGCAGCCTTTGAGCTCTGTGCCCACAGTCCACCTCACCCAGTAGAGCACATCGGTCCAGCCTTCCATGGTGACACACTGGAAGACTGTCAGCATGGCGAAGAAGAAGTTGTCAAAGTTGGTGATGCCTCCATTGGGCCCTGGCCAGCGCCCGCGGCACTCAGTCTGGTTCAGCGTGCACGCACGCCCTGATCCCGAAGACGCACAGGGCGATGGGTCCTCCTCCGCTTCCATGTCTGCAGGAAGACTGGAGCTTGGGGCTTCGAAGCAGGCCCACTCTCAGTCGCTGCCACCCTGAAGCCCCGCCCACTTAGGAAGCTCGACTTGGGTCCTAGATTTTTCTCTTTCTCTCTTTCTTTCTTTCTTTTTTTGAGACGGGGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACCACAACTTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACCGGCGTGTGCCACAACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGGTTTCACCATATTGGTCAGGTTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGTCCTAGATTTTTCTAAGGCAACACTTAGCTCCACTTCTAGGGCAGAACCCTGCGAGCTCCGTATTCTGAACCACTGGGAAGCTAGGGATCCCACCAACCGGGATTTAAATCCTGGCGTGGAGTCTTGTAAATAACAATGAGGCAAGAGCCTGGGGGCGGAGTCTTGTGAATTTGGACGCGTCTCTTGAAAATAGGGGAGGGGCAAGGCATGGGCGGGAGTCTGGGTAAATGGTCTGAGTGTATGAGAACAGTCGTGGAGAATAAAGCTTTTTTTTGGTTTGTTTTTGTTTTGTTTTTGAGACCGAGTCTCACTCTGTCGCCCAGGCTGGAGCGCAGTGAGTGGTGCGATCCGATCTCAGCTCACTGCAACCTCCATCTCCCAGGCTCAAGTGATTCTCATGCCGCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCACGCCCGGCTCAACTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCATCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACGGCGCCCAGCCGAGGATAAAGTTTTTTAAAATTGTTTTTGTTATTATTTTTTGGAGACTGGATCTCACTATTTTGCACAGGCTGGTAGCAAACTCCTGGGCGTAAGTGATCCTCCCGCCTCGGCCTCCCAAATGCCGGGAATACAGGTGTAAGCCAAGGCGCAGAGTTTTTGTTTTGTTTTGTTTTGTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTTTAGTAGAGGCAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGCAGAGTCTTGTCTTAAGTGCGGGGCACTTGCACTTAAGTCTTAAGTGCGGGGCAGGACCTTAGCCTGTGGGTACAGTCTCGTGATGGGGCGGAGCTATTAGCGAGGTGGGGTTGTAGTCTGATTTAGGGCAGAGTCTTGAATATATGGGTGGGACTTGGTTATCTGGGGATGGAACCTGAGCCTGGGGGCCGAATCTTGTGCATTTCAGTGGGTTTCCCTGAGTGCAGCATTGGATCTAGGAACCGAAGGAGGGGGCATGTTCTGCCTAGGAGGGGCGGGCAGACTAACCGGATCCCAGGAAGTAGCACGTCTTGTGCATTCGTCCAAGGAACAGCTCGAGCCCAATGATGGCATAAATGATGATGACGAAGAGCACGAGCAGTGCAATGTGCAGCAGCGGCACCAGAGCCTTCATGATGGAATTGA
|
GGGAGGTGTGTGTCGTAAAGGGCAGAAGGGGTGTCAGTGACTGGGGCCAGAGGTCAAGGACTGAGATCGAGGCTTGAGGCTAAAGAAAGGACTTGAGTCAGGGTTTGGACTGGCTTCTGGGCTGGGTCAGGGGCTGGGGGCCCTCACAGGCAGCGTGTACAGCTGGCCAGAGCCCCCTCCTCCTCATCCTCATCGCCTTGGGTCTCTGTCATGGAACCGGTGTCACTGGCTGGGAGGCTGGCTGTAGGCAAGGTGGGGATAGTGGTCAGGACCTGAAGACCCCGAGGTCCAATCTTTGGCTTTCACCTCTGCCTACCCACCCCCACCCCAGCCTGGCTGGACCCCCACCATGGCTGCTGGTGGAGTGTGTGGAGCGAGTAGAATGACTGAACCAGCGCAGACGTCCACGCCTCCTATTGGTCAGCTCGGCCAGCTGTGGCCCTGCAGGGAGAGAAAGGACAATTAGGGAGGACATACTGGGGGCAGGGTTAGGGCCATGTCTAGGGTAGGGGTGTCATTTGGAGTCTTTATAGCTGAGGCTGGTCTTGATTCTGCATTTTGAGCCATAACTTGGGGGCTGGGGCTAGAGTTGTTGCAGATCAGGCCTGGGTGGGTCTCAGGAGGGCAGACCACATCTAAGGCATGCAGGGAATGGGCCAGATTGGAGTTGCCTACGATGGCCCGCCCGGCCCTCTTCAGCCATAGAACCAAGGTTGTCATCGGCGGAGGGGTCCTCCATGTCCAGCTCTTCGGCTTGAGTGATCCAGTCCAGGTAGCCCCGCAGGTCTTCCTCCATCTGCTGCTTCTCCCGCTGCTTCTGGAAGTCCCCGCGAGCTTTCGCTTTCTCTCTCTCCTTGGAGAACTCCCTGAGGGAGGAGGATAGAGGGCTAGGGGGAGGAGCCAATCTGAACACCTTGCTTTCATCACTCCAGCCACACTAGCCTCCTAGCTACTCTTTGAATATGCCAAGCACATTCTAGCCTCAGGGCCTTTGCACTGACCATTCTCTTTGCTTGGAATGCTTTTCCCTCAGATAACCACATGGTGCACCCACCTCATCTCTTTTTTTTTCTTTTCCCCAGATACAGGGTCTCACTCTATCACTCAGGGTGGAGTGCAGTGGTGTGATCATAGCTCACCGCAGCCTCGACCTCCTGGGCTCAAGCGATCCTTCCACCTCAGCTTCCTGAGTAGCTAGGACTACAGGTGTGCGCCACCATGCCCAGCTATTTTTGTTCATTTTTTGTAAAGATGAAGTCTCACTATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCCATCCTCCTGCCTTGGCCTCCCATAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTCTTTCACATTTTTACTCAAATAACACCTTGTCAAGACAGCCTTTCCTGACATCCCTATTTATAATCACAAGATCTCTCCATTCTTATCTTTTATCTTTCCTTTCTTTCCACAGTACATATTCCATATAAAACACTATATATATGTGTGTGCCAATATATAAATGCACACACTTATTTTATTGCATATGTTGCTACTTTCTGTCTCTCCCCATCAGAATGTAAAACCAGGAAGGCAGAGATTTTTGTCTTTTGTTCCACTCCTAAAATGGTGCCTCACATACAATAGATGCTCATGATTGAATGAAGGAGTATTTCAGATGGGTTTTGAAGGATGTCTAGGAGTTTGCCAGGCACAAAGAAGTGGGCAGTGGCTGAGGGGTGGGAAGCAGGGAGTGTCTAGGTCTCTCACCCACTCAGGACGCCAAGCACAAGGTTGAGGACGAAGAAGGACCCAAAGATGACAAGGCTCACAAAGTACACCCAGGGCAGTTCATACCCCATGGCATCTTGCATCTGGGGAGAGAAAAGGCATGCATCCCTCAGGGTAGGCAGACACTCCTGCGTGAGTGTCAGGGAGGAAAGGCAGGTGCAGCCTTTGAGCTCTGTGCCCACAGTCCACCTCACCCAGTAGAGCACATCGGTCCAGCCTTCCATGGTGACACACTGGAAGACTGTCAGCATGGCGAAGAAGTTGTCAAAGTTGGTGATGCCTCCATTGGGCCCTGGCCAGCGCCCGCGGCACTCAGTCTGGTTCAGCGTGCACGCACGCCCTGATCCCGAAGACGCACAGGGCGATGGGTCCTCCTCCGCTTCCATGTCTGCAGGAAGACTGGAGCTTGGGGCTTCGAAGCAGGCCCACTCTCAGTCGCTGCCACCCTGAAGCCCCGCCCACTTAGGAAGCTCGACTTGGGTCCTAGATTTTTCTCTTTCTCTCTTTCTTTCTTTCTTTTTTTGAGACGGGGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACCACAACTTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACCGGCGTGTGCCACAACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGGTTTCACCATATTGGTCAGGTTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGTCCTAGATTTTTCTAAGGCAACACTTAGCTCCACTTCTAGGGCAGAACCCTGCGAGCTCCGTATTCTGAACCACTGGGAAGCTAGGGATCCCACCAACCGGGATTTAAATCCTGGCGTGGAGTCTTGTAAATAACAATGAGGCAAGAGCCTGGGGGCGGAGTCTTGTGAATTTGGACGCGTCTCTTGAAAATAGGGGAGGGGCAAGGCATGGGCGGGAGTCTGGGTAAATGGTCTGAGTGTATGAGAACAGTCGTGGAGAATAAAGCTTTTTTTTGGTTTGTTTTTGTTTTGTTTTTGAGACCGAGTCTCACTCTGTCGCCCAGGCTGGAGCGCAGTGAGTGGTGCGATCCGATCTCAGCTCACTGCAACCTCCATCTCCCAGGCTCAAGTGATTCTCATGCCGCAGCCTCCCGAGTAGCTGGGATTACAGACATGCACCACCACGCCCGGCTCAACTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCATCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACGGCGCCCAGCCGAGGATAAAGTTTTTTAAAATTGTTTTTGTTATTATTTTTTGGAGACTGGATCTCACTATTTTGCACAGGCTGGTAGCAAACTCCTGGGCGTAAGTGATCCTCCCGCCTCGGCCTCCCAAATGCCGGGAATACAGGTGTAAGCCAAGGCGCAGAGTTTTTGTTTTGTTTTGTTTTGTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTTTAGTAGAGGCAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGCAGAGTCTTGTCTTAAGTGCGGGGCACTTGCACTTAAGTCTTAAGTGCGGGGCAGGACCTTAGCCTGTGGGTACAGTCTCGTGATGGGGCGGAGCTATTAGCGAGGTGGGGTTGTAGTCTGATTTAGGGCAGAGTCTTGAATATATGGGTGGGACTTGGTTATCTGGGGATGGAACCTGAGCCTGGGGGCCGAATCTTGTGCATTTCAGTGGGTTTCCCTGAGTGCAGCATTGGATCTAGGAACCGAAGGAGGGGGCATGTTCTGCCTAGGAGGGGCGGGCAGACTAACCGGATCCCAGGAAGTAGCACGTCTTGTGCATTCGTCCAAGGAACAGCTCGAGCCCAATGATGGCATAAATGATGATGACGAAGAGCACGAGCAGTGCAATGTGCAGCAGCGGCACCAGAGCCTTCATGATGGAATTGANNN
|
pathogenic
| 334,258 |
Gene mutation in FOXP3 (forkhead box P3) at chromosome X, position 49255491—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Insulin-dependent_diabetes_mellitus_secretory_diarrhea_syndrome']
|
ATGCAAGAGGTTAAATGGCAGAGCCAGGATGACAGTCAAGGTCTCTGATCCCTGCTAAGCCCACAGGCCAGGCCTGGTGGAGAGCAGTGGATAGGTGAGCTCGGGCGAATCCACCCCGATTTTCCTTGGTCAGGGGAGGAAAGGAGGTGCTCCTGGAATTACTTAGCAGGGTCCCTCCCTTCTGATGGCCGAATATAGTAGCTGGAGTCCAGAGTGGGTGAGGCATGGCCCCAATCCCCAAGGGAGTCAGGGCTAGGGGCCCGACACTCGAGACCATATGGGGGGCTTTCAGGCCACGGACATCCCGAAAGGAAGCTTTTGTGAGCGGATGCATTTTCCCAAAGGCTGAGTGGCGGCAGCTGCAGTGGTGGTGGTGGTGGGAAGGGGCAGCATGGAGCTCCTTTGCACCCTCCACCCAGAGCCTGTCAGGATTAGGAGCTTGGGGGCACCGTGTAGTGCAAGGACCATTCTTACCTGGGAATGTGCTGTTTCCATGGCTACCCCACAGGTGCCTCCGGACAGCAAACAGGCTGTCAGGGGCCTCCCGGGGGCCAGACCAGGCTGGGACGACAGGGCCTTGGCTGCCAGCAGCTACGATGCAGCAGGAGCCCTTGTCGGATGATGCCTGGGTGAGGGGGAGAGGCTGGTGACCCAGAGGCTTAAACTTCCCACTTTTTACTTTCTATTTTATGTTTTTTATTTTTTTTGATACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCCCCACCTCCCAGATTCAAGCAAGTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGTCACTACGCCCAGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCCGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTCCACTTTATTTTTAAATCAGTGTTTTTCAAAGCAAGGACGCCCTCTTCTAAATTCCAGTCTGAGGTGGAATCCCACAAAACAGCATGAGCCGTATTTATTAGAGCACAGGTGCGGATGTCGTATGTGGCCACTGATGCTGGGACCATGAACTGGGGTTGAATAGGGCTCTTTACCACCCAACTGTGACCTTGGGAAAGTCACCTAAACCCCCCTGGCCTCAATATTCCTCATCTGTACATTCGCATCATGAGAAATAAATTACCACCAGCAAAGCGCTCAGAAACAGTGCCTGGCCTCCAGGGCTGGCTTCATGGGCGTGTGACCTATGTGGTTATGTGGCACCCTGTGCTTTGTTTAATGCTCTGTGGTCGCCATCTTGAAATCTGAACAAGGGGCCCTGCAGGTTACATAGCTGGTCCTGCTGGCACACAGCCTGCATCTGGCAAGTCTGGCTATTTGCATTTGCTTTAACAACTCAGGATCACAGTGTTTGGGGATCTTAGAGTCAGAGGGTTTTTTTTTTTTTTTTTTCTTGAGACGGAGTCTTGATCTGTCGCCTAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAAACTCCGCCTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCCAAGTAGTTGGGACTACAGACACCTGCCACCACGCCTGGCTAATTTTTTGTACTTTTAGTAGACACAGGGTTTCACCATCTTGGCGAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCGGGGTCAGAGGGTTTGTAAGTAGAAGGGGACAGATTTCCAGGTCTGGGCATGTTTGGAGCTGGGGACAGGGGCCCCTAGCTCTCAGGACCTGAATGTGAGGTTAGGTTCCCTGCACCGTGCAGACCTCCTCCCTGCCCCCCAGCAGTCTGAGTCTGCCACCACCAGTCCTGGGGTCGCTCACCACAGATGAAGCCTTGGTCAGTGCCATTTTCCCAGCCAGGTGGGCCTGCATGGCACTCAGCTTCTCCTTCTCCAGCACCAGCTGTGAAATGGCACAAACATGAGGCCTCAGCCTGGCCCTTCTCTGCCACATCTTTGCCCAGGCTACGGTCTTCCCTGGGAGTGCCCGCTCCTCTTCCTTCCTTTATACCAGCCCTCGTCCCAGGTGAACTTGGTTTCTGGCACATGGTGGACAGAAGGTTTTGCGCACTATCCCTATCCCTTACCCTCCACCGCCCTGGCATTACCTGCTGCTCCAGAGACTGTACCATCTCTCTCTGGAGGAGACATTGTGCCCTGCCCTTCTCATCCAGAAGATGGTCCGCCTGGCAGTGCCTAAGTAGGGAGAAGATTCCATGCAGGTGACCACGACAGGCCTGGTCTGGCTCAATGCTCTGAATGGGGAGGGCCCAGACCCTCTGGGAGTTCTCTCCTCTGAGCCCCAGCTCCCCTCCCCTCTCTACCTCAGTCTCCCTCTCACACCCCTCGTTCCCTTAACACATGCCCCTCAGCACCTACTGCATGTCAGGCCTGAACTCACCACTTGAGCCTGGCCAGAGTGCTGGAGATAATGTTGGAAGTGTGGTGAGTTGAGAATGGGCCAGGGAGGTGAGAGTGGGCAAAGCATTCTGGGTGGAGGGACGGCCTGTGCAAAGGCCTGGCTGCAAGGAGGACAGGACATGTGGGGTTGCTGCTAAGGGTTGTGTGTAGTGTGGTGTGTATTTGTGTGTGTGTGTGTGTGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACATATGGGGGGACTGAGGGGAGGCAGCAGCAGCCATCTAGAGGAGCTAGAACTTTGGGAACAGTGGAATAAGGCTGGCATGTTGGCATGAGGAGTAGCAGGGCAAAGCAGGAGTGCAGATTCTAGAGCCTGGCTACATGGGTTCAAATCCCAGCTCTGTCACTCAGGAACTGGGAGATTTTGATCAAGACACTTAACCTCTTTGGCCTCAGTCTCCTTGTCTGTAAAATGGGGGTAAATAACAGCACAAACGTTTCTTATTATACATACGAGAAAACTGAGGTCGAGAGAAGCTAAGTAATTTGTCCAAGGTCACACAGCCAGTCAGGGATGGAGCTGGGATTTGAACCCACAGTCTCAGAGTTTAGCTCTTGCATCTTACTACTTATTGGGATGAAGCCTGAGCTGAGATCTGCACCCTAGACCTCTCCCCACAAGCCAGGGCCGGTAGACTGGCACAGGCCTGGGCCACTCACTTGAGGAAGTCCTCTGGCTCTTCGAAGACCTTCTCACATCCGGGCCACTTGCAGACACCATTTGCCAGCAGTGGGTAGGAGCTCTGGGGCACAGCCGAAAGGGTGCTGGGGGGACAGAGGGTGTCAGGGGAGGGGATAGGAGGGCGAGGATCCTTCCCAGCCCTGTCCACTGACCTGTCCTTCCTGGGTGCACTGGGATTTGGGAAGGTGCAGAGCAGTGCCGGCTCCCTGGACACCCATTCCAGGCTGGCCACGTTGATCCCTGTGGGTGGGGACAGGGCACCTATGGAGGCTGTGGGCTGGGCTCTGGAGCTTGGCCCACAAGGCCTCTCATTTTGAGCTTCCCACCCTCCTGAGCCTCGAAAACCCTGACTCCCAGGGGGCTCTGCTGTCCCCAAAGTCCCAGGCTTCTGGCAGAGAAGCTTAAAGACGGCCATTCGCAGGTGCTGACATTTTGACTAGCTTTGTAAAGCTCTGTGGTTTTGTGATTTTGACATTCTGCATCTTTAAGGTTCTGCACCTGACGTTTTTTGGAGGGTGGAGTTTCCAAGCCTCTGAGACCTGACACCTTTGACCCCCAGAGTACTGCAATTCAGAATAGCCTACACTGCTCACAGCCAAGGATCTGGGGACTTGGGGGTTCTGTGAAGCCATGGGGTACGGGCTGAGGTGTTACCAGGTGGGAGGCCAGGCCGGGCCTTGAGGGAGAAGACCCCAGTGGCGGTGGTGGGTGGTGTGAGGCTGATCATGGCTGGGCTCTCCAGGGGGTGCACCTGCAGCACAGGGGT
|
ATGCAAGAGGTTAAATGGCAGAGCCAGGATGACAGTCAAGGTCTCTGATCCCTGCTAAGCCCACAGGCCAGGCCTGGTGGAGAGCAGTGGATAGGTGAGCTCGGGCGAATCCACCCCGATTTTCCTTGGTCAGGGGAGGAAAGGAGGTGCTCCTGGAATTACTTAGCAGGGTCCCTCCCTTCTGATGGCCGAATATAGTAGCTGGAGTCCAGAGTGGGTGAGGCATGGCCCCAATCCCCAAGGGAGTCAGGGCTAGGGGCCCGACACTCGAGACCATATGGGGGGCTTTCAGGCCACGGACATCCCGAAAGGAAGCTTTTGTGAGCGGATGCATTTTCCCAAAGGCTGAGTGGCGGCAGCTGCAGTGGTGGTGGTGGTGGGAAGGGGCAGCATGGAGCTCCTTTGCACCCTCCACCCAGAGCCTGTCAGGATTAGGAGCTTGGGGGCACCGTGTAGTGCAAGGACCATTCTTACCTGGGAATGTGCTGTTTCCATGGCTACCCCACAGGTGCCTCCGGACAGCAAACAGGCTGTCAGGGGCCTCCCGGGGGCCAGACCAGGCTGGGACGACAGGGCCTTGGCTGCCAGCAGCTACGATGCAGCAGGAGCCCTTGTCGGATGATGCCTGGGTGAGGGGGAGAGGCTGGTGACCCAGAGGCTTAAACTTCCCACTTTTTACTTTCTATTTTATGTTTTTTATTTTTTTTGATACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCCCCACCTCCCAGATTCAAGCAAGTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGTCACTACGCCCAGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCCGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTCCACTTTATTTTTAAATCAGTGTTTTTCAAAGCAAGGACGCCCTCTTCTAAATTCCAGTCTGAGGTGGAATCCCACAAAACAGCATGAGCCGTATTTATTAGAGCACAGGTGCGGATGTCGTATGTGGCCACTGATGCTGGGACCATGAACTGGGGTTGAATAGGGCTCTTTACCACCCAACTGTGACCTTGGGAAAGTCACCTAAACCCCCCTGGCCTCAATATTCCTCATCTGTACATTCGCATCATGAGAAATAAATTACCACCAGCAAAGCGCTCAGAAACAGTGCCTGGCCTCCAGGGCTGGCTTCATGGGCGTGTGACCTATGTGGTTATGTGGCACCCTGTGCTTTGTTTAATGCTCTGTGGTCGCCATCTTGAAATCTGAACAAGGGGCCCTGCAGGTTACATAGCTGGTCCTGCTGGCACACAGCCTGCATCTGGCAAGTCTGGCTATTTGCATTTGCTTTAACAACTCAGGATCACAGTGTTTGGGGATCTTAGAGTCAGAGGGTTTTTTTTTTTTTTTTTTCTTGAGACGGAGTCTTGATCTGTCGCCTAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAAACTCCGCCTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCCAAGTAGTTGGGACTACAGACACCTGCCACCACGCCTGGCTAATTTTTTGTACTTTTAGTAGACACAGGGTTTCACCATCTTGGCGAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCGGGGTCAGAGGGTTTGTAAGTAGAAGGGGACAGATTTCCAGGTCTGGGCATGTTTGGAGCTGGGGACAGGGGCCCCTAGCTCTCAGGACCTGAATGTGAGGTTAGGTTCCCTGCACCGTGCAGACCTCCTCCCTGCCCCCCAGCAGTCTGAGTCTGCCACCACCAGTCCTGGGGTCGCTCACCACAGATGAAGCCTTGGTCAGTGCCATTTTCCCAGCCAGGTGGGCCTGCATGGCACTCAGCTTCTTCTCCAGCACCAGCTGTGAAATGGCACAAACATGAGGCCTCAGCCTGGCCCTTCTCTGCCACATCTTTGCCCAGGCTACGGTCTTCCCTGGGAGTGCCCGCTCCTCTTCCTTCCTTTATACCAGCCCTCGTCCCAGGTGAACTTGGTTTCTGGCACATGGTGGACAGAAGGTTTTGCGCACTATCCCTATCCCTTACCCTCCACCGCCCTGGCATTACCTGCTGCTCCAGAGACTGTACCATCTCTCTCTGGAGGAGACATTGTGCCCTGCCCTTCTCATCCAGAAGATGGTCCGCCTGGCAGTGCCTAAGTAGGGAGAAGATTCCATGCAGGTGACCACGACAGGCCTGGTCTGGCTCAATGCTCTGAATGGGGAGGGCCCAGACCCTCTGGGAGTTCTCTCCTCTGAGCCCCAGCTCCCCTCCCCTCTCTACCTCAGTCTCCCTCTCACACCCCTCGTTCCCTTAACACATGCCCCTCAGCACCTACTGCATGTCAGGCCTGAACTCACCACTTGAGCCTGGCCAGAGTGCTGGAGATAATGTTGGAAGTGTGGTGAGTTGAGAATGGGCCAGGGAGGTGAGAGTGGGCAAAGCATTCTGGGTGGAGGGACGGCCTGTGCAAAGGCCTGGCTGCAAGGAGGACAGGACATGTGGGGTTGCTGCTAAGGGTTGTGTGTAGTGTGGTGTGTATTTGTGTGTGTGTGTGTGTGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACATATGGGGGGACTGAGGGGAGGCAGCAGCAGCCATCTAGAGGAGCTAGAACTTTGGGAACAGTGGAATAAGGCTGGCATGTTGGCATGAGGAGTAGCAGGGCAAAGCAGGAGTGCAGATTCTAGAGCCTGGCTACATGGGTTCAAATCCCAGCTCTGTCACTCAGGAACTGGGAGATTTTGATCAAGACACTTAACCTCTTTGGCCTCAGTCTCCTTGTCTGTAAAATGGGGGTAAATAACAGCACAAACGTTTCTTATTATACATACGAGAAAACTGAGGTCGAGAGAAGCTAAGTAATTTGTCCAAGGTCACACAGCCAGTCAGGGATGGAGCTGGGATTTGAACCCACAGTCTCAGAGTTTAGCTCTTGCATCTTACTACTTATTGGGATGAAGCCTGAGCTGAGATCTGCACCCTAGACCTCTCCCCACAAGCCAGGGCCGGTAGACTGGCACAGGCCTGGGCCACTCACTTGAGGAAGTCCTCTGGCTCTTCGAAGACCTTCTCACATCCGGGCCACTTGCAGACACCATTTGCCAGCAGTGGGTAGGAGCTCTGGGGCACAGCCGAAAGGGTGCTGGGGGGACAGAGGGTGTCAGGGGAGGGGATAGGAGGGCGAGGATCCTTCCCAGCCCTGTCCACTGACCTGTCCTTCCTGGGTGCACTGGGATTTGGGAAGGTGCAGAGCAGTGCCGGCTCCCTGGACACCCATTCCAGGCTGGCCACGTTGATCCCTGTGGGTGGGGACAGGGCACCTATGGAGGCTGTGGGCTGGGCTCTGGAGCTTGGCCCACAAGGCCTCTCATTTTGAGCTTCCCACCCTCCTGAGCCTCGAAAACCCTGACTCCCAGGGGGCTCTGCTGTCCCCAAAGTCCCAGGCTTCTGGCAGAGAAGCTTAAAGACGGCCATTCGCAGGTGCTGACATTTTGACTAGCTTTGTAAAGCTCTGTGGTTTTGTGATTTTGACATTCTGCATCTTTAAGGTTCTGCACCTGACGTTTTTTGGAGGGTGGAGTTTCCAAGCCTCTGAGACCTGACACCTTTGACCCCCAGAGTACTGCAATTCAGAATAGCCTACACTGCTCACAGCCAAGGATCTGGGGACTTGGGGGTTCTGTGAAGCCATGGGGTACGGGCTGAGGTGTTACCAGGTGGGAGGCCAGGCCGGGCCTTGAGGGAGAAGACCCCAGTGGCGGTGGTGGGTGGTGTGAGGCTGATCATGGCTGGGCTCTCCAGGGGGTGCACCTGCAGCACAGGGGTNNN
|
pathogenic
| 334,292 |
For chromosome X, position 49255494, gene FOXP3 (forkhead box P3): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Insulin-dependent_diabetes_mellitus_secretory_diarrhea_syndrome']
|
CAAGAGGTTAAATGGCAGAGCCAGGATGACAGTCAAGGTCTCTGATCCCTGCTAAGCCCACAGGCCAGGCCTGGTGGAGAGCAGTGGATAGGTGAGCTCGGGCGAATCCACCCCGATTTTCCTTGGTCAGGGGAGGAAAGGAGGTGCTCCTGGAATTACTTAGCAGGGTCCCTCCCTTCTGATGGCCGAATATAGTAGCTGGAGTCCAGAGTGGGTGAGGCATGGCCCCAATCCCCAAGGGAGTCAGGGCTAGGGGCCCGACACTCGAGACCATATGGGGGGCTTTCAGGCCACGGACATCCCGAAAGGAAGCTTTTGTGAGCGGATGCATTTTCCCAAAGGCTGAGTGGCGGCAGCTGCAGTGGTGGTGGTGGTGGGAAGGGGCAGCATGGAGCTCCTTTGCACCCTCCACCCAGAGCCTGTCAGGATTAGGAGCTTGGGGGCACCGTGTAGTGCAAGGACCATTCTTACCTGGGAATGTGCTGTTTCCATGGCTACCCCACAGGTGCCTCCGGACAGCAAACAGGCTGTCAGGGGCCTCCCGGGGGCCAGACCAGGCTGGGACGACAGGGCCTTGGCTGCCAGCAGCTACGATGCAGCAGGAGCCCTTGTCGGATGATGCCTGGGTGAGGGGGAGAGGCTGGTGACCCAGAGGCTTAAACTTCCCACTTTTTACTTTCTATTTTATGTTTTTTATTTTTTTTGATACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCCCCACCTCCCAGATTCAAGCAAGTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGTCACTACGCCCAGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCCGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTCCACTTTATTTTTAAATCAGTGTTTTTCAAAGCAAGGACGCCCTCTTCTAAATTCCAGTCTGAGGTGGAATCCCACAAAACAGCATGAGCCGTATTTATTAGAGCACAGGTGCGGATGTCGTATGTGGCCACTGATGCTGGGACCATGAACTGGGGTTGAATAGGGCTCTTTACCACCCAACTGTGACCTTGGGAAAGTCACCTAAACCCCCCTGGCCTCAATATTCCTCATCTGTACATTCGCATCATGAGAAATAAATTACCACCAGCAAAGCGCTCAGAAACAGTGCCTGGCCTCCAGGGCTGGCTTCATGGGCGTGTGACCTATGTGGTTATGTGGCACCCTGTGCTTTGTTTAATGCTCTGTGGTCGCCATCTTGAAATCTGAACAAGGGGCCCTGCAGGTTACATAGCTGGTCCTGCTGGCACACAGCCTGCATCTGGCAAGTCTGGCTATTTGCATTTGCTTTAACAACTCAGGATCACAGTGTTTGGGGATCTTAGAGTCAGAGGGTTTTTTTTTTTTTTTTTTCTTGAGACGGAGTCTTGATCTGTCGCCTAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAAACTCCGCCTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCCAAGTAGTTGGGACTACAGACACCTGCCACCACGCCTGGCTAATTTTTTGTACTTTTAGTAGACACAGGGTTTCACCATCTTGGCGAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCGGGGTCAGAGGGTTTGTAAGTAGAAGGGGACAGATTTCCAGGTCTGGGCATGTTTGGAGCTGGGGACAGGGGCCCCTAGCTCTCAGGACCTGAATGTGAGGTTAGGTTCCCTGCACCGTGCAGACCTCCTCCCTGCCCCCCAGCAGTCTGAGTCTGCCACCACCAGTCCTGGGGTCGCTCACCACAGATGAAGCCTTGGTCAGTGCCATTTTCCCAGCCAGGTGGGCCTGCATGGCACTCAGCTTCTCCTTCTCCAGCACCAGCTGTGAAATGGCACAAACATGAGGCCTCAGCCTGGCCCTTCTCTGCCACATCTTTGCCCAGGCTACGGTCTTCCCTGGGAGTGCCCGCTCCTCTTCCTTCCTTTATACCAGCCCTCGTCCCAGGTGAACTTGGTTTCTGGCACATGGTGGACAGAAGGTTTTGCGCACTATCCCTATCCCTTACCCTCCACCGCCCTGGCATTACCTGCTGCTCCAGAGACTGTACCATCTCTCTCTGGAGGAGACATTGTGCCCTGCCCTTCTCATCCAGAAGATGGTCCGCCTGGCAGTGCCTAAGTAGGGAGAAGATTCCATGCAGGTGACCACGACAGGCCTGGTCTGGCTCAATGCTCTGAATGGGGAGGGCCCAGACCCTCTGGGAGTTCTCTCCTCTGAGCCCCAGCTCCCCTCCCCTCTCTACCTCAGTCTCCCTCTCACACCCCTCGTTCCCTTAACACATGCCCCTCAGCACCTACTGCATGTCAGGCCTGAACTCACCACTTGAGCCTGGCCAGAGTGCTGGAGATAATGTTGGAAGTGTGGTGAGTTGAGAATGGGCCAGGGAGGTGAGAGTGGGCAAAGCATTCTGGGTGGAGGGACGGCCTGTGCAAAGGCCTGGCTGCAAGGAGGACAGGACATGTGGGGTTGCTGCTAAGGGTTGTGTGTAGTGTGGTGTGTATTTGTGTGTGTGTGTGTGTGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACATATGGGGGGACTGAGGGGAGGCAGCAGCAGCCATCTAGAGGAGCTAGAACTTTGGGAACAGTGGAATAAGGCTGGCATGTTGGCATGAGGAGTAGCAGGGCAAAGCAGGAGTGCAGATTCTAGAGCCTGGCTACATGGGTTCAAATCCCAGCTCTGTCACTCAGGAACTGGGAGATTTTGATCAAGACACTTAACCTCTTTGGCCTCAGTCTCCTTGTCTGTAAAATGGGGGTAAATAACAGCACAAACGTTTCTTATTATACATACGAGAAAACTGAGGTCGAGAGAAGCTAAGTAATTTGTCCAAGGTCACACAGCCAGTCAGGGATGGAGCTGGGATTTGAACCCACAGTCTCAGAGTTTAGCTCTTGCATCTTACTACTTATTGGGATGAAGCCTGAGCTGAGATCTGCACCCTAGACCTCTCCCCACAAGCCAGGGCCGGTAGACTGGCACAGGCCTGGGCCACTCACTTGAGGAAGTCCTCTGGCTCTTCGAAGACCTTCTCACATCCGGGCCACTTGCAGACACCATTTGCCAGCAGTGGGTAGGAGCTCTGGGGCACAGCCGAAAGGGTGCTGGGGGGACAGAGGGTGTCAGGGGAGGGGATAGGAGGGCGAGGATCCTTCCCAGCCCTGTCCACTGACCTGTCCTTCCTGGGTGCACTGGGATTTGGGAAGGTGCAGAGCAGTGCCGGCTCCCTGGACACCCATTCCAGGCTGGCCACGTTGATCCCTGTGGGTGGGGACAGGGCACCTATGGAGGCTGTGGGCTGGGCTCTGGAGCTTGGCCCACAAGGCCTCTCATTTTGAGCTTCCCACCCTCCTGAGCCTCGAAAACCCTGACTCCCAGGGGGCTCTGCTGTCCCCAAAGTCCCAGGCTTCTGGCAGAGAAGCTTAAAGACGGCCATTCGCAGGTGCTGACATTTTGACTAGCTTTGTAAAGCTCTGTGGTTTTGTGATTTTGACATTCTGCATCTTTAAGGTTCTGCACCTGACGTTTTTTGGAGGGTGGAGTTTCCAAGCCTCTGAGACCTGACACCTTTGACCCCCAGAGTACTGCAATTCAGAATAGCCTACACTGCTCACAGCCAAGGATCTGGGGACTTGGGGGTTCTGTGAAGCCATGGGGTACGGGCTGAGGTGTTACCAGGTGGGAGGCCAGGCCGGGCCTTGAGGGAGAAGACCCCAGTGGCGGTGGTGGGTGGTGTGAGGCTGATCATGGCTGGGCTCTCCAGGGGGTGCACCTGCAGCACAGGGGTCCG
|
CAAGAGGTTAAATGGCAGAGCCAGGATGACAGTCAAGGTCTCTGATCCCTGCTAAGCCCACAGGCCAGGCCTGGTGGAGAGCAGTGGATAGGTGAGCTCGGGCGAATCCACCCCGATTTTCCTTGGTCAGGGGAGGAAAGGAGGTGCTCCTGGAATTACTTAGCAGGGTCCCTCCCTTCTGATGGCCGAATATAGTAGCTGGAGTCCAGAGTGGGTGAGGCATGGCCCCAATCCCCAAGGGAGTCAGGGCTAGGGGCCCGACACTCGAGACCATATGGGGGGCTTTCAGGCCACGGACATCCCGAAAGGAAGCTTTTGTGAGCGGATGCATTTTCCCAAAGGCTGAGTGGCGGCAGCTGCAGTGGTGGTGGTGGTGGGAAGGGGCAGCATGGAGCTCCTTTGCACCCTCCACCCAGAGCCTGTCAGGATTAGGAGCTTGGGGGCACCGTGTAGTGCAAGGACCATTCTTACCTGGGAATGTGCTGTTTCCATGGCTACCCCACAGGTGCCTCCGGACAGCAAACAGGCTGTCAGGGGCCTCCCGGGGGCCAGACCAGGCTGGGACGACAGGGCCTTGGCTGCCAGCAGCTACGATGCAGCAGGAGCCCTTGTCGGATGATGCCTGGGTGAGGGGGAGAGGCTGGTGACCCAGAGGCTTAAACTTCCCACTTTTTACTTTCTATTTTATGTTTTTTATTTTTTTTGATACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCCCCACCTCCCAGATTCAAGCAAGTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGTCACTACGCCCAGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCCGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTCCACTTTATTTTTAAATCAGTGTTTTTCAAAGCAAGGACGCCCTCTTCTAAATTCCAGTCTGAGGTGGAATCCCACAAAACAGCATGAGCCGTATTTATTAGAGCACAGGTGCGGATGTCGTATGTGGCCACTGATGCTGGGACCATGAACTGGGGTTGAATAGGGCTCTTTACCACCCAACTGTGACCTTGGGAAAGTCACCTAAACCCCCCTGGCCTCAATATTCCTCATCTGTACATTCGCATCATGAGAAATAAATTACCACCAGCAAAGCGCTCAGAAACAGTGCCTGGCCTCCAGGGCTGGCTTCATGGGCGTGTGACCTATGTGGTTATGTGGCACCCTGTGCTTTGTTTAATGCTCTGTGGTCGCCATCTTGAAATCTGAACAAGGGGCCCTGCAGGTTACATAGCTGGTCCTGCTGGCACACAGCCTGCATCTGGCAAGTCTGGCTATTTGCATTTGCTTTAACAACTCAGGATCACAGTGTTTGGGGATCTTAGAGTCAGAGGGTTTTTTTTTTTTTTTTTTCTTGAGACGGAGTCTTGATCTGTCGCCTAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAAACTCCGCCTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCCAAGTAGTTGGGACTACAGACACCTGCCACCACGCCTGGCTAATTTTTTGTACTTTTAGTAGACACAGGGTTTCACCATCTTGGCGAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCGGGGTCAGAGGGTTTGTAAGTAGAAGGGGACAGATTTCCAGGTCTGGGCATGTTTGGAGCTGGGGACAGGGGCCCCTAGCTCTCAGGACCTGAATGTGAGGTTAGGTTCCCTGCACCGTGCAGACCTCCTCCCTGCCCCCCAGCAGTCTGAGTCTGCCACCACCAGTCCTGGGGTCGCTCACCACAGATGAAGCCTTGGTCAGTGCCATTTTCCCAGCCAGGTGGGCCTGCATGGCACTCAGCTTCTCCTCCAGCACCAGCTGTGAAATGGCACAAACATGAGGCCTCAGCCTGGCCCTTCTCTGCCACATCTTTGCCCAGGCTACGGTCTTCCCTGGGAGTGCCCGCTCCTCTTCCTTCCTTTATACCAGCCCTCGTCCCAGGTGAACTTGGTTTCTGGCACATGGTGGACAGAAGGTTTTGCGCACTATCCCTATCCCTTACCCTCCACCGCCCTGGCATTACCTGCTGCTCCAGAGACTGTACCATCTCTCTCTGGAGGAGACATTGTGCCCTGCCCTTCTCATCCAGAAGATGGTCCGCCTGGCAGTGCCTAAGTAGGGAGAAGATTCCATGCAGGTGACCACGACAGGCCTGGTCTGGCTCAATGCTCTGAATGGGGAGGGCCCAGACCCTCTGGGAGTTCTCTCCTCTGAGCCCCAGCTCCCCTCCCCTCTCTACCTCAGTCTCCCTCTCACACCCCTCGTTCCCTTAACACATGCCCCTCAGCACCTACTGCATGTCAGGCCTGAACTCACCACTTGAGCCTGGCCAGAGTGCTGGAGATAATGTTGGAAGTGTGGTGAGTTGAGAATGGGCCAGGGAGGTGAGAGTGGGCAAAGCATTCTGGGTGGAGGGACGGCCTGTGCAAAGGCCTGGCTGCAAGGAGGACAGGACATGTGGGGTTGCTGCTAAGGGTTGTGTGTAGTGTGGTGTGTATTTGTGTGTGTGTGTGTGTGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACATATGGGGGGACTGAGGGGAGGCAGCAGCAGCCATCTAGAGGAGCTAGAACTTTGGGAACAGTGGAATAAGGCTGGCATGTTGGCATGAGGAGTAGCAGGGCAAAGCAGGAGTGCAGATTCTAGAGCCTGGCTACATGGGTTCAAATCCCAGCTCTGTCACTCAGGAACTGGGAGATTTTGATCAAGACACTTAACCTCTTTGGCCTCAGTCTCCTTGTCTGTAAAATGGGGGTAAATAACAGCACAAACGTTTCTTATTATACATACGAGAAAACTGAGGTCGAGAGAAGCTAAGTAATTTGTCCAAGGTCACACAGCCAGTCAGGGATGGAGCTGGGATTTGAACCCACAGTCTCAGAGTTTAGCTCTTGCATCTTACTACTTATTGGGATGAAGCCTGAGCTGAGATCTGCACCCTAGACCTCTCCCCACAAGCCAGGGCCGGTAGACTGGCACAGGCCTGGGCCACTCACTTGAGGAAGTCCTCTGGCTCTTCGAAGACCTTCTCACATCCGGGCCACTTGCAGACACCATTTGCCAGCAGTGGGTAGGAGCTCTGGGGCACAGCCGAAAGGGTGCTGGGGGGACAGAGGGTGTCAGGGGAGGGGATAGGAGGGCGAGGATCCTTCCCAGCCCTGTCCACTGACCTGTCCTTCCTGGGTGCACTGGGATTTGGGAAGGTGCAGAGCAGTGCCGGCTCCCTGGACACCCATTCCAGGCTGGCCACGTTGATCCCTGTGGGTGGGGACAGGGCACCTATGGAGGCTGTGGGCTGGGCTCTGGAGCTTGGCCCACAAGGCCTCTCATTTTGAGCTTCCCACCCTCCTGAGCCTCGAAAACCCTGACTCCCAGGGGGCTCTGCTGTCCCCAAAGTCCCAGGCTTCTGGCAGAGAAGCTTAAAGACGGCCATTCGCAGGTGCTGACATTTTGACTAGCTTTGTAAAGCTCTGTGGTTTTGTGATTTTGACATTCTGCATCTTTAAGGTTCTGCACCTGACGTTTTTTGGAGGGTGGAGTTTCCAAGCCTCTGAGACCTGACACCTTTGACCCCCAGAGTACTGCAATTCAGAATAGCCTACACTGCTCACAGCCAAGGATCTGGGGACTTGGGGGTTCTGTGAAGCCATGGGGTACGGGCTGAGGTGTTACCAGGTGGGAGGCCAGGCCGGGCCTTGAGGGAGAAGACCCCAGTGGCGGTGGTGGGTGGTGTGAGGCTGATCATGGCTGGGCTCTCCAGGGGGTGCACCTGCAGCACAGGGGTCCGNNN
|
pathogenic
| 334,293 |
Chromosome X, position 50072497, gene CLCN5 (chloride voltage-gated channel 5): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Inborn_genetic_diseases']
|
ATCTTCCTTTCCCATATAATCTCTCTTTTATGGTTTTTTCCTTAATGCAGGATATTCATAACTAAGAAAAGTAAATGGTTTTCTGTTAAAGGAATAAAAGAAAAAAATCTCAGAGCCCTAGTGTTTACTGAAGCATACAAAGTAAACTCCTTGTGATTATTGATCTTGTACAACCATAAAACCAAAGTAAACTTATGCTTTCAACTCCAACAAAACCACAAGACCAGTTAAATTCAAACTGGGGACATTAACTTAATGTGATAGGTAATAGATGGTACTTATGGCTATGGCACAGGTTCTTTTGAATTTAGCAAGAGAATTTCCCCACTTTTCTCTTTTTGAAGTACCGTGAAAACTTCTCAGAGAGACTTGCCAAGGTCATTTGCCTTTAACTTGTTGCTGTGTATCATTTAAATTAGGGAATCACAATTTCTGGTTTGTATAAGGGCCACGTGGAGAGCTTATTAAAAAAATAGTTGTCCAACCCCAGAGATTCTCAGTAGGTGGTCCTCTGGTGAGTCACTTCTTCAACCCACAATAGGTATTATTTTTTTTTCTTTCTTACTATTTCTGCTTGGACTCCAGATTTGAAATGTGATTTTTTAAGCTGCCCCATTCTCTCCCAAGTTCATGATTTCCTCCTCTTAGAACCAAGCAAATCTCTTGAGTAGTCAGGTGGAGATTGACTTTCGTTCTTAAGCCTTTCCAGCTCCTGACTGGTTTTCTCACGACCACCTGAACCCAGGAGTCAGGTTGTCCCAAGTACAGGTTTTGAGAAATTCCTTCTTAATCCATGGATATTTGGTGATTCCACCGAGTTTTCTTGTCACAACTCGAAAAGTTGATCACTATAAAGCATTTCATGTTTTTTCATAAGATTTCTGCCATTTGGGAACATATACACATATTCTTTCTATCGTATGTATCAATTCATCAGGCGGGCTTTAGAATTTCTGCCATCTGTAATTTACCAGTTTGTCATCAGTTGCATATTCAACATGTTATCCAGATTATGAGAGTCACCTGTGATATGACAAGTGCACACTTCCTTTTATATTAATGGTTGCATCTGAGGCAAATTATGCCAATTAGTAATCCAAAACCAGTTAAAGTGTGTTTATCAAATAGCCCAAGGGGGCTTTTTGTTTTATAGCATTAACTGTTCATTATCAGAAGGGAAACACTGTCACAGGGAAAAATGTAACTTTGTTCCTTTTCAGCACTGAAATTGGAAACTTAGAGTCATAGGTCAAAACTATTTAAAAAAATGCTTTTGAAATTCTCAGAATAATTTATTGTCTGTGACGTTACTGTAGATAAGGTGGGGTAACTAAGTTGCCATTTCAAAGATAAGAAATAGAGGTACAGAGAAAGGGGAGGTACCAGTGACAAAACTGTCAGAATGTTGATTTTTAAAATGTAGGCCCTGAAGGGTTAAATTGTCAAGTCTAGGACTTAAAAGATAAAACTTTCTGCACCTCCTGATAGCCTTGATGTTACCAGCAGGTTGTTGAAAATGAAAAGAGATACATCATTGCTATCACTTAGTATCGGTGACCACTGTACAATTAGGCGTTTGTGGGATGAAGTCTGGGAATTTGCCTGACCTGAACCACAGCCCCCAGGTAGTAAGCCTCAATTTGTACTTTTATCACTCAAATAAGCCTGTGTTTATTTATTCTTTGAAAAACATTGAAACTATTTGCTGTGAGTCAAGAGATTGCCCTTGGAATATCTGATGTCCAGGATAGAAAGATACCACTGCAATAAGCAAAACAAGTTGATGCTATAAGAAATGATGGCTTGGGAGGAAGCTCTGAATAAGGAACTTGTGGGCATTACAATACTGTAGATGAAGGTGGGGTTTCGGTAAACCTCAAAGTTGTTAGTGAAACTGGTTCAGCTAAAGATTATGTGAAAAGTAGCTCTAAATTGGTCTCTATTCTCCAGTGATTTGTCTTTGTATTTCTTTGTTGAACAGTTTTTAAGTGAAAAAATGGTGTGTGTAGAGTGTACCAATGTTTTCTCATTTTCCCCTAGATTACCAATAAAAGCAAAGAGTCAACATGGGCCTTAATTCACAGTGTGAGTGATGCTTTTTCCGGCTGGTTGTTGATGCTCCTTATTGGGCTTTTATCAGGTATGGTAAACTGTTAGTTTTCAAAACAAATCTCCTAAAATTGTGGTATGTCTCTCCCGTAAGTCCTGAGCTGAGTCACGTACTGTGTTTTCCTGTTTTTCTACCTTAAATGAATTGCTGGTGAACCTTATAGAAGCTCAATGTCCCCATCTGTAAAGGGTACTAATACCTGCAATTCTTACCTTGAATAAATGAGGAAATGCATTTAAATGCATTTTGTACACTATAAAATACTGTATCCATTTTAAGGTGATGTTAGCCCTTTGGTGCTTGTTTTGAGGAAGAGCCCTTCTGTTGGAGACAGTTTTTTTTTTAATACATACTGCATGGGTTTTAGGAGATAAGATGTGGAAGAGGACTTCCTGAGACATTTTGTGGGTGTTTCTTAAACATCTACTCTCTCATTTGGTGATGCAGAAAAGCATGTAAGATATGGCTCGTACTCCCAAGAAGCTTATGATCTCATTCTTTCATAGTGGCTGGGGGTGGAATGGTGCCACCTTGCCCTATAAACTCCTTCAACCTTCCCTGCCACTCCATATAATATACAGTCTCACTAAAAATGGTATACTTACTGTACAAATACAGCTTTCAACCAAGTTCCCAAGAAGGTTTCTCACCCGGTGGGGAGAGGAGAGGGCCAAGGACACTAGGTAGAGATGGTAAGAGGTGTGTCCTTATGGCATTAAAGGATAGGGCCTAGGCAAATCTGTAATCTTGAGCTGAAAGAGAAGTTAGGTGGAAACCTGGAGGTGGAAGGTATACAGTGGTAGTTAACAGCAAGTAGAGGCTCTAGTTTTAGGCTGCCTGGATTTGAATCCAAGCCCCACCACTTGCTAGTTTTGTGGCTTTGAGCAAGTTTCTTAACCCCTGGAAGCCTTAGTTTACTGATCTGTAAAATGGTGATAATCAAAGTCCCTATGTTAGAAGTTTGCTGTGAGGATTAAATGAGATATAGCACATAATAGCACTTATTAAGCACAGCAGACAGTTGTTAATGCTGCTGCTGCTGCCGTTACCAAGAGAGAATAATTCATGAGCCATGGAGTAGAATGTGACTGTAGCAAATGAAGAATGGCTTATCTATAGCTGGGTTTTAAAAAATTGTCTAGGGCAGGGATTGGCAAACTTCTGCTGTAAAGGAGCCAGATAGTAAATATTTTAGGATTTGTGGGCCAAGTGTTCTCTCTAGCACCCACTCCATTCTGCTGATGTGGCACGAAAGCAGCCATAGACAATAGGTAAACAAGCCCAGCTGTGACCAGAAAAACTTTATTTGCAAAAATAGGAGACAGACAGGATTTGGTCCTTGGGCTATAGTTTGCCAACCCATGGCCTAGGGTGTTAACTCTGCCCCTTCTGGCTCTTACAGGAGAGAGAACATGGTCTGGCTCTTTGGAGCTGCCTAATAATAGACTGGGTGGTCTGTAATGCTAAGTATTGCAGAGAGGCTGAGGACAAGGAAGATGGCTGAGAAAAGATTATATGACCTAGCAGTTAGGAACACAGCAATTACCTTGAAAAGCCATCTCAGAAAAATATTAGAAGCTAAATCTATTCGGTTTGTGCAAAAGTAATTGCATTACTTTTAATGGCGAAAACCGCAATTGCTTTTGCACCAACCTAATAGATTTCAAGGGAAGGCAACCACTGTAGAAGTTTTGGTAGTCATAGGAGAGAGAGGAAGGGTAAAGGCTTGAAATGATAACAAGGACAAGGGACAGCATTTTATTCTTCAGGGTAGGGGAAACCTAATACAATTTGTAACCAGAGAAGAAAGAACTGACTCTGGGGAGGAGGAGAGGTAGAAGGAGAAGACAGGATTGAGGGTACCAGTGTTAGGTGAAATAAGACATGTACACGTGAGACAACCAGAGAATAAGCCAAACTGTATAACATCATGGTAATTTTCCGAATCCAGGCAGTAACAGATAGAAGGCAGAGAAGATTGTGGAC
|
ATCTTCCTTTCCCATATAATCTCTCTTTTATGGTTTTTTCCTTAATGCAGGATATTCATAACTAAGAAAAGTAAATGGTTTTCTGTTAAAGGAATAAAAGAAAAAAATCTCAGAGCCCTAGTGTTTACTGAAGCATACAAAGTAAACTCCTTGTGATTATTGATCTTGTACAACCATAAAACCAAAGTAAACTTATGCTTTCAACTCCAACAAAACCACAAGACCAGTTAAATTCAAACTGGGGACATTAACTTAATGTGATAGGTAATAGATGGTACTTATGGCTATGGCACAGGTTCTTTTGAATTTAGCAAGAGAATTTCCCCACTTTTCTCTTTTTGAAGTACCGTGAAAACTTCTCAGAGAGACTTGCCAAGGTCATTTGCCTTTAACTTGTTGCTGTGTATCATTTAAATTAGGGAATCACAATTTCTGGTTTGTATAAGGGCCACGTGGAGAGCTTATTAAAAAAATAGTTGTCCAACCCCAGAGATTCTCAGTAGGTGGTCCTCTGGTGAGTCACTTCTTCAACCCACAATAGGTATTATTTTTTTTTCTTTCTTACTATTTCTGCTTGGACTCCAGATTTGAAATGTGATTTTTTAAGCTGCCCCATTCTCTCCCAAGTTCATGATTTCCTCCTCTTAGAACCAAGCAAATCTCTTGAGTAGTCAGGTGGAGATTGACTTTCGTTCTTAAGCCTTTCCAGCTCCTGACTGGTTTTCTCACGACCACCTGAACCCAGGAGTCAGGTTGTCCCAAGTACAGGTTTTGAGAAATTCCTTCTTAATCCATGGATATTTGGTGATTCCACCGAGTTTTCTTGTCACAACTCGAAAAGTTGATCACTATAAAGCATTTCATGTTTTTTCATAAGATTTCTGCCATTTGGGAACATATACACATATTCTTTCTATCGTATGTATCAATTCATCAGGCGGGCTTTAGAATTTCTGCCATCTGTAATTTACCAGTTTGTCATCAGTTGCATATTCAACATGTTATCCAGATTATGAGAGTCACCTGTGATATGACAAGTGCACACTTCCTTTTATATTAATGGTTGCATCTGAGGCAAATTATGCCAATTAGTAATCCAAAACCAGTTAAAGTGTGTTTATCAAATAGCCCAAGGGGGCTTTTTGTTTTATAGCATTAACTGTTCATTATCAGAAGGGAAACACTGTCACAGGGAAAAATGTAACTTTGTTCCTTTTCAGCACTGAAATTGGAAACTTAGAGTCATAGGTCAAAACTATTTAAAAAAATGCTTTTGAAATTCTCAGAATAATTTATTGTCTGTGACGTTACTGTAGATAAGGTGGGGTAACTAAGTTGCCATTTCAAAGATAAGAAATAGAGGTACAGAGAAAGGGGAGGTACCAGTGACAAAACTGTCAGAATGTTGATTTTTAAAATGTAGGCCCTGAAGGGTTAAATTGTCAAGTCTAGGACTTAAAAGATAAAACTTTCTGCACCTCCTGATAGCCTTGATGTTACCAGCAGGTTGTTGAAAATGAAAAGAGATACATCATTGCTATCACTTAGTATCGGTGACCACTGTACAATTAGGCGTTTGTGGGATGAAGTCTGGGAATTTGCCTGACCTGAACCACAGCCCCCAGGTAGTAAGCCTCAATTTGTACTTTTATCACTCAAATAAGCCTGTGTTTATTTATTCTTTGAAAAACATTGAAACTATTTGCTGTGAGTCAAGAGATTGCCCTTGGAATATCTGATGTCCAGGATAGAAAGATACCACTGCAATAAGCAAAACAAGTTGATGCTATAAGAAATGATGGCTTGGGAGGAAGCTCTGAATAAGGAACTTGTGGGCATTACAATACTGTAGATGAAGGTGGGGTTTCGGTAAACCTCAAAGTTGTTAGTGAAACTGGTTCAGCTAAAGATTATGTGAAAAGTAGCTCTAAATTGGTCTCTATTCTCCAGTGATTTGTCTTTGTATTTCTTTGTTGAACAGTTTTTAAGTGAAAAAATGGTGTGTGTAGAGTGTACCAATGTTTTCTCATTTTCCCCTAGATTACCAATAAAGCAAAGAGTCAACATGGGCCTTAATTCACAGTGTGAGTGATGCTTTTTCCGGCTGGTTGTTGATGCTCCTTATTGGGCTTTTATCAGGTATGGTAAACTGTTAGTTTTCAAAACAAATCTCCTAAAATTGTGGTATGTCTCTCCCGTAAGTCCTGAGCTGAGTCACGTACTGTGTTTTCCTGTTTTTCTACCTTAAATGAATTGCTGGTGAACCTTATAGAAGCTCAATGTCCCCATCTGTAAAGGGTACTAATACCTGCAATTCTTACCTTGAATAAATGAGGAAATGCATTTAAATGCATTTTGTACACTATAAAATACTGTATCCATTTTAAGGTGATGTTAGCCCTTTGGTGCTTGTTTTGAGGAAGAGCCCTTCTGTTGGAGACAGTTTTTTTTTTAATACATACTGCATGGGTTTTAGGAGATAAGATGTGGAAGAGGACTTCCTGAGACATTTTGTGGGTGTTTCTTAAACATCTACTCTCTCATTTGGTGATGCAGAAAAGCATGTAAGATATGGCTCGTACTCCCAAGAAGCTTATGATCTCATTCTTTCATAGTGGCTGGGGGTGGAATGGTGCCACCTTGCCCTATAAACTCCTTCAACCTTCCCTGCCACTCCATATAATATACAGTCTCACTAAAAATGGTATACTTACTGTACAAATACAGCTTTCAACCAAGTTCCCAAGAAGGTTTCTCACCCGGTGGGGAGAGGAGAGGGCCAAGGACACTAGGTAGAGATGGTAAGAGGTGTGTCCTTATGGCATTAAAGGATAGGGCCTAGGCAAATCTGTAATCTTGAGCTGAAAGAGAAGTTAGGTGGAAACCTGGAGGTGGAAGGTATACAGTGGTAGTTAACAGCAAGTAGAGGCTCTAGTTTTAGGCTGCCTGGATTTGAATCCAAGCCCCACCACTTGCTAGTTTTGTGGCTTTGAGCAAGTTTCTTAACCCCTGGAAGCCTTAGTTTACTGATCTGTAAAATGGTGATAATCAAAGTCCCTATGTTAGAAGTTTGCTGTGAGGATTAAATGAGATATAGCACATAATAGCACTTATTAAGCACAGCAGACAGTTGTTAATGCTGCTGCTGCTGCCGTTACCAAGAGAGAATAATTCATGAGCCATGGAGTAGAATGTGACTGTAGCAAATGAAGAATGGCTTATCTATAGCTGGGTTTTAAAAAATTGTCTAGGGCAGGGATTGGCAAACTTCTGCTGTAAAGGAGCCAGATAGTAAATATTTTAGGATTTGTGGGCCAAGTGTTCTCTCTAGCACCCACTCCATTCTGCTGATGTGGCACGAAAGCAGCCATAGACAATAGGTAAACAAGCCCAGCTGTGACCAGAAAAACTTTATTTGCAAAAATAGGAGACAGACAGGATTTGGTCCTTGGGCTATAGTTTGCCAACCCATGGCCTAGGGTGTTAACTCTGCCCCTTCTGGCTCTTACAGGAGAGAGAACATGGTCTGGCTCTTTGGAGCTGCCTAATAATAGACTGGGTGGTCTGTAATGCTAAGTATTGCAGAGAGGCTGAGGACAAGGAAGATGGCTGAGAAAAGATTATATGACCTAGCAGTTAGGAACACAGCAATTACCTTGAAAAGCCATCTCAGAAAAATATTAGAAGCTAAATCTATTCGGTTTGTGCAAAAGTAATTGCATTACTTTTAATGGCGAAAACCGCAATTGCTTTTGCACCAACCTAATAGATTTCAAGGGAAGGCAACCACTGTAGAAGTTTTGGTAGTCATAGGAGAGAGAGGAAGGGTAAAGGCTTGAAATGATAACAAGGACAAGGGACAGCATTTTATTCTTCAGGGTAGGGGAAACCTAATACAATTTGTAACCAGAGAAGAAAGAACTGACTCTGGGGAGGAGGAGAGGTAGAAGGAGAAGACAGGATTGAGGGTACCAGTGTTAGGTGAAATAAGACATGTACACGTGAGACAACCAGAGAATAAGCCAAACTGTATAACATCATGGTAATTTTCCGAATCCAGGCAGTAACAGATAGAAGGCAGAGAAGATTGTGGACN
|
pathogenic
| 334,322 |
Benign or pathogenic: chromosome X, position 50081756, gene CLCN5 (chloride voltage-gated channel 5) variant? Disease(s) if pathogenic?
|
pathogenic
|
AAGATGTAGTTATATGTGGACTCTAAAAAAGAAAGTTGAGTAAACAGAACCAGAGAGCAGAATGGTGGTTACCTGGGGCATGGAGGAGGAGGAAATGGGGAGAAGTGGACCAAAGGGTACAAATTTGCAGTGAGGTAGGGTGAATAAGTCTAGAGAGGTAATGTACAGTAGAGTTAATAATGCTGTATACTAAAAATTTGCTAAGAGTATATTTTAGATGCTCTTACCACACATACAAAGAAAGGTAACTATGGAAGGTGATATGCATGTAAGTTTATTTCAATGTAGTAACAATTTCGCTATATGTATATATATAAAACATCATGTTGTACACCTTAAATACATACAATAAAAAAATTTTAAAAAGCAAAGAAAAAAGCCAAACACCCAAAATTTTGTTACTATAAACTATGAGAATTTGACACCAAGGTAAGTAGCCAAAGGTGAATTTAGTGGAACTTTAGATCCGCTCTTCACTTCAGATGTGAAGCCAAGGTTCAGCCATTCCAAAAAAGCTGGGGGGGTGCTCTTAAGACTCTTGGTAAAATGACATGGAATCATATATATTTGACTACAAAACCCATCAAAGCACTCATATAGAAAGAGAATTTTGTTTCATGGTTTTCCGTTTGCTCTTTTCCTTGTTCATCCTTAGAATCCATGGTAAATTTCCTTTGGGTGTAGCAAAGCATCTCATTTTCAGTACTAAGTGGCCTGACAGTGTTTCAGTAGTTGACAATTCAGAAAGAAAAGTCTTGAACAATTTAATCTCGGTGGTTTTTTTTTTTTTTGGACTTTTTTTCCTGAAAAAACATTACTCAGAAGAGCTGCATGTCTCACTGAAGCTGTCTAGGCTAAAACAAGCTTCTTTTTCCCCCTGTTCCAGGGAGCCTTTGCCTACATAGTCAATTATTTCATGTACGTCCTCTGGGCTCTCCTATTTGCCTTCCTTGCCGTATCTCTTGTCAAGGTGTTTGCGCCTTATGCCTGTGGCTCTGGAATCCCTGAGGTGAGTCTCTTAAAATGGTTTATAAATGGTTACAATATGAATACTTTTTGGTTAAAATCTCTTAATATGTATTCCAGCACATACCACAATTTGATGAATGTTAAACAGGATCAGATCCTGAGGCCATCTAAGACCTAGGTCTTTCCACAAGTCCCTCTCAGCCTGGGCTACCAGGAAATTAAAGGGAGTTGATTCTTAGCCTCCTGAGGGTTCCTGTTGAGCCAGGCTCTGGAAAACTTCCCCTGTTCCCTATCCAAAAAGCTTCCAGAGTATATCCCAAGATTCTGACCTGAAAAAGCAGTGTTATTGTCAGCTTTTTCAGGGCAAAAGAAAGAAAATCATTTGGTACCTTTCCCACAATATGATTTAGGCTACATGGGATGGTTAAAACCCTGTTTCTAACTACTTTTGGCTTAGATTGCTTGACAGTGACTAAAGACACTGAGACTTAGGTTACCAGGATGACTTTGCCCTTCCCTGTTTCCTGACCAGGTAATAAGTCACAATTTTTTTTTTTTTTAAGCCAGGGAATCAAGACTATACCTAACCTTTAAGGTTGTTTCAGGGACATTAGCCTTGTCCTCTCAAAACATGCCTCTTGGGCTACCACGTTGTAACATGAGGAAAACACCTATCCCTCCCTCTCCAGCTCCTCCTTCATATATGCACACTCTCATACTTACAATACATCCTTGCCCAGCTATCACTCCCCTCCCCCTAAAAAGGGGGAACATGAAAGCTTAAAGAACAGTTCTTGCTTTCTTGGGCTCCTGGGCTCTCTTCCAAACAGGGATCACTGTAGGTCAAGCATTTATATGTCACTTATTCAAAAGGTGCAGTTTCTATAATGAGGTCCAGATTTTTGCTTCTTAGCCTTGTTGACTTCCTTAGTCTATATTCAATCTTTCTGTGTTTAACCTGCAGATAAAAACTATCTTGAGTGGTTTCATTATTAGGGGCTATTTGGGTAAGTGGACTCTGGTTATCAAAACCATCACCTTGGTGCTGGCAGTGTCATCTGGCTTGAGCCTGGGCAAAGAGGGCCCTCTAGTGCACGTGGCTTGCTGCTGTGGGAACATCCTGTGCCACTGCTTCAACAAATACAGGAAGAATGAAGCCAAGCGCAGAGAGGTAATAATGAATGGCCTTAATAGTCTCTTTTTGGTTGTGAGCATAAATGATACAATCTTAGGGGGTGAGAATTTGAGAGTTCTACCAATGTTAATGCAAACACCCTTTGACCCAGCAATTCCACTTGTAGGAATTTATCCTACAGATATCCTAGCATGTGTGTGCACAAAGGTGTATAAGGATAGTGCAGCGTCTGTCAACATAGTAAAAAACTGAAGCAACAAAAATGTCCATCAATAGGGAACTGATCTAATAAATACTATTCTGTTCATACTGTAGAATACTTTGCAACCATTAAATGAGATAACCTTTTATATATTGACTTGGAATTCTGGCTATGAAACACCATTTGATTTTAAAAGCCAGTTTCTGAGTAATGTATATAATATAATTCATATTTTTTAAAAGTGTACATGCACTTATTGATAGAAAATGTCTGGAAGGTGGTTTTACCCCAAACTGGTTTTACTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCACCTAGACTGCAGTGCAGTGGCATGATCACGGCTCACTGCAGCCTCGACCTCCCTGGCTCAGATGATCCTCCCACCTCAGCCTCCCAAGTAGCTGAAACTACAGGCACGCACCACCAAACCCAGCTAATTTTTGTATTTTTTGTAGAGACGGGGTTTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGCGCTCAAGCAATCCTCCTCCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGACACGATGCCTGGCTCACGTCAAACTGTTAAAAATGTTTATCTATGGTGAGTGGGAGAGTGAGGGGTAGTGAAGGAGAAGTAAGGATTTTAACTTTTTATTGTATGTAATTCTATTCAAGTATATATTGCTTCTCTTACAAAATAAGTTACAGAAAGAATAGATTTTAAAAGAAGTTGTTTATTGCTATGGAATAGTACATATAAGTGCAGTGTATGTTTCAGATGTCGGTTTTTTCACTTTCTATTTCTATCTAACACTATACTTGAATTAGTTTCTCTCTGTATTGGACCTCTCTCTACCTTTTGTTTCAGCCCAGCTAAATTAGTCCCGCCATGGCACCTCTGTAGTGGCTGTCATGTTTATGCAGTTGTTAATGTATGCTGTTTTGAGGAGGAAGGACTTTTTTAAAAAAAAGTTCCAAGTCATTGGTTTACTTTTTTCTTGCTATAATTAAGGGCCTAAGAGAATAATGGCTCTTGCTTTATTTTCTTTGAATTACAAAGAAGTCACATATGGAATGGGTCAAGACTAAGGTCATTTCACTTAAAAGGATTTTTCACAAAACAGGAACCTAATGATTTCTTATGAAAACCAAAAAAAAAAAAAAAATTAACCACAAGACCCAGAAGGAAACTCAAAGATATTGAGATTTCAAATATAGAATAAATTTTGTTGGTTCAAGGGAGAAAGGTCCTGGCACTGTTAGAAAGGAGAGGAAAGCTAGCAGGAGAGAAGATGGGGAAATATGAGTAGATTGTTTAACTACCTGTCATGCAGTAGAGGGACTTAAAGGTAGTGTTAAGTTGGTGAGGTTGTTAAATGGGAATGACATTCAACAGAAGGGAAGAGTTGAGAAAACATTTTTTTTCTAGAAGGGCTTTATTAGAACAGTTATGAAATTTGAATGAGATTTATAGATCAAATAACAGTTATTAGTGTAAATTTCCTATTTTGATCATTGAACTGTGATTATGGAAGAGACTGTCTTTGCTTTTAGGACATAAAAGCATTTATATCCTACATGCACTGAAGCATTTCAGGGTACATGAGCCTTATATGTGCAACTGACTTTTCTGAGTGAAATTCCAATTCTTCAGAAAAAAATAGAATCATAAAACAAATGCAGTAATGGTAGCAATTACAGAAGCTACATGAAGATATGTAGGACTTCTTTGTGCTATTCTTTCACCTTTTCTGTGTTTGA
|
AAGATGTAGTTATATGTGGACTCTAAAAAAGAAAGTTGAGTAAACAGAACCAGAGAGCAGAATGGTGGTTACCTGGGGCATGGAGGAGGAGGAAATGGGGAGAAGTGGACCAAAGGGTACAAATTTGCAGTGAGGTAGGGTGAATAAGTCTAGAGAGGTAATGTACAGTAGAGTTAATAATGCTGTATACTAAAAATTTGCTAAGAGTATATTTTAGATGCTCTTACCACACATACAAAGAAAGGTAACTATGGAAGGTGATATGCATGTAAGTTTATTTCAATGTAGTAACAATTTCGCTATATGTATATATATAAAACATCATGTTGTACACCTTAAATACATACAATAAAAAAATTTTAAAAAGCAAAGAAAAAAGCCAAACACCCAAAATTTTGTTACTATAAACTATGAGAATTTGACACCAAGGTAAGTAGCCAAAGGTGAATTTAGTGGAACTTTAGATCCGCTCTTCACTTCAGATGTGAAGCCAAGGTTCAGCCATTCCAAAAAAGCTGGGGGGGTGCTCTTAAGACTCTTGGTAAAATGACATGGAATCATATATATTTGACTACAAAACCCATCAAAGCACTCATATAGAAAGAGAATTTTGTTTCATGGTTTTCCGTTTGCTCTTTTCCTTGTTCATCCTTAGAATCCATGGTAAATTTCCTTTGGGTGTAGCAAAGCATCTCATTTTCAGTACTAAGTGGCCTGACAGTGTTTCAGTAGTTGACAATTCAGAAAGAAAAGTCTTGAACAATTTAATCTCGGTGGTTTTTTTTTTTTTTGGACTTTTTTTCCTGAAAAAACATTACTCAGAAGAGCTGCATGTCTCACTGAAGCTGTCTAGGCTAAAACAAGCTTCTTTTTCCCCCTGTTCCAGGGAGCCTTTGCCTACATAGTCAATTATTTCATGTACGTCCTCTGGGCTCTCCTATTTGCCTTCCTTGCCGTATCTCTTGTCAAGGTGTTTGCGCCTTATGCCTGTGGCTCTGGAATCCCTGAGGTGAGTCTCTTAAAATGGTTTATAAATGGTTACAATATGAATACTTTTTGGTTAAAATCTCTTAATATGTATTCCAGCACATACCACAATTTGATGAATGTTAAACAGGATCAGATCCTGAGGCCATCTAAGACCTAGGTCTTTCCACAAGTCCCTCTCAGCCTGGGCTACCAGGAAATTAAAGGGAGTTGATTCTTAGCCTCCTGAGGGTTCCTGTTGAGCCAGGCTCTGGAAAACTTCCCCTGTTCCCTATCCAAAAAGCTTCCAGAGTATATCCCAAGATTCTGACCTGAAAAAGCAGTGTTATTGTCAGCTTTTTCAGGGCAAAAGAAAGAAAATCATTTGGTACCTTTCCCACAATATGATTTAGGCTACATGGGATGGTTAAAACCCTGTTTCTAACTACTTTTGGCTTAGATTGCTTGACAGTGACTAAAGACACTGAGACTTAGGTTACCAGGATGACTTTGCCCTTCCCTGTTTCCTGACCAGGTAATAAGTCACAATTTTTTTTTTTTTTAAGCCAGGGAATCAAGACTATACCTAACCTTTAAGGTTGTTTCAGGGACATTAGCCTTGTCCTCTCAAAACATGCCTCTTGGGCTACCACGTTGTAACATGAGGAAAACACCTATCCCTCCCTCTCCAGCTCCTCCTTCATATATGCACACTCTCATACTTACAATACATCCTTGCCCAGCTATCACTCCCCTCCCCCTAAAAAGGGGGAACATGAAAGCTTAAAGAACAGTTCTTGCTTTCTTGGGCTCCTGGGCTCTCTTCCAAACAGGGATCACTGTAGGTCAAGCATTTATATGTCACTTATTCAAAAGGTGCAGTTTCTATAATGAGGTCCAGATTTTTGCTTCTTAGCCTTGTTGACTTCCTTAGTCTATATTCAATCTTTCTGTGTTTAACCTGCAGATAAAAACTATCTTGAGTGGTTTCATTATTAGGGGCTATTTGGGTAAGTGGACTCTGGTTATCAAAACCATCACCTTGGTGCTGGCAGTGTCATCTGGCTTGAGCCTGGGCAAAGAGGCCCTCTAGTGCACGTGGCTTGCTGCTGTGGGAACATCCTGTGCCACTGCTTCAACAAATACAGGAAGAATGAAGCCAAGCGCAGAGAGGTAATAATGAATGGCCTTAATAGTCTCTTTTTGGTTGTGAGCATAAATGATACAATCTTAGGGGGTGAGAATTTGAGAGTTCTACCAATGTTAATGCAAACACCCTTTGACCCAGCAATTCCACTTGTAGGAATTTATCCTACAGATATCCTAGCATGTGTGTGCACAAAGGTGTATAAGGATAGTGCAGCGTCTGTCAACATAGTAAAAAACTGAAGCAACAAAAATGTCCATCAATAGGGAACTGATCTAATAAATACTATTCTGTTCATACTGTAGAATACTTTGCAACCATTAAATGAGATAACCTTTTATATATTGACTTGGAATTCTGGCTATGAAACACCATTTGATTTTAAAAGCCAGTTTCTGAGTAATGTATATAATATAATTCATATTTTTTAAAAGTGTACATGCACTTATTGATAGAAAATGTCTGGAAGGTGGTTTTACCCCAAACTGGTTTTACTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCACCTAGACTGCAGTGCAGTGGCATGATCACGGCTCACTGCAGCCTCGACCTCCCTGGCTCAGATGATCCTCCCACCTCAGCCTCCCAAGTAGCTGAAACTACAGGCACGCACCACCAAACCCAGCTAATTTTTGTATTTTTTGTAGAGACGGGGTTTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGCGCTCAAGCAATCCTCCTCCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGACACGATGCCTGGCTCACGTCAAACTGTTAAAAATGTTTATCTATGGTGAGTGGGAGAGTGAGGGGTAGTGAAGGAGAAGTAAGGATTTTAACTTTTTATTGTATGTAATTCTATTCAAGTATATATTGCTTCTCTTACAAAATAAGTTACAGAAAGAATAGATTTTAAAAGAAGTTGTTTATTGCTATGGAATAGTACATATAAGTGCAGTGTATGTTTCAGATGTCGGTTTTTTCACTTTCTATTTCTATCTAACACTATACTTGAATTAGTTTCTCTCTGTATTGGACCTCTCTCTACCTTTTGTTTCAGCCCAGCTAAATTAGTCCCGCCATGGCACCTCTGTAGTGGCTGTCATGTTTATGCAGTTGTTAATGTATGCTGTTTTGAGGAGGAAGGACTTTTTTAAAAAAAAGTTCCAAGTCATTGGTTTACTTTTTTCTTGCTATAATTAAGGGCCTAAGAGAATAATGGCTCTTGCTTTATTTTCTTTGAATTACAAAGAAGTCACATATGGAATGGGTCAAGACTAAGGTCATTTCACTTAAAAGGATTTTTCACAAAACAGGAACCTAATGATTTCTTATGAAAACCAAAAAAAAAAAAAAAATTAACCACAAGACCCAGAAGGAAACTCAAAGATATTGAGATTTCAAATATAGAATAAATTTTGTTGGTTCAAGGGAGAAAGGTCCTGGCACTGTTAGAAAGGAGAGGAAAGCTAGCAGGAGAGAAGATGGGGAAATATGAGTAGATTGTTTAACTACCTGTCATGCAGTAGAGGGACTTAAAGGTAGTGTTAAGTTGGTGAGGTTGTTAAATGGGAATGACATTCAACAGAAGGGAAGAGTTGAGAAAACATTTTTTTTCTAGAAGGGCTTTATTAGAACAGTTATGAAATTTGAATGAGATTTATAGATCAAATAACAGTTATTAGTGTAAATTTCCTATTTTGATCATTGAACTGTGATTATGGAAGAGACTGTCTTTGCTTTTAGGACATAAAAGCATTTATATCCTACATGCACTGAAGCATTTCAGGGTACATGAGCCTTATATGTGCAACTGACTTTTCTGAGTGAAATTCCAATTCTTCAGAAAAAAATAGAATCATAAAACAAATGCAGTAATGGTAGCAATTACAGAAGCTACATGAAGATATGTAGGACTTCTTTGTGCTATTCTTTCACCTTTTCTGTGTTTGAN
|
pathogenic
| 334,327 |
Determine if the mutation at chromosome X, position 50086638 in gene CLCN5 (chloride voltage-gated channel 5) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Dent_disease_type_1']
|
CCCAGGCCAGTGTTGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACAACCGGCTAGTATTTGAATCTTAAATTTACTTTCTAGCACTTATTTAGACTTTCCAGTTATTTTTTCCTGTTGCTTTCATCATCAGCGGCAACCTTTTTTGTCTTATGGCCTTGTCAAAGTGGGCAGATGGTTGAGAGTAAAACAGACTTGAGAAAGAAGGGTGTAGACAGACTCCACTCTACAATATAAAATTAAAGCAAACTAGCTACCCCGATTCTTTCTGTCTCTTGATTCATCCTAAACATAGTCACTGAAATCCCCTTTCTCAAGTTGCATGTTGGCTGTCCTCATCTTTCTTAAATGAAAGCCATTGTAGCTAGGAATTTCAAAGCCCTTCCAGCTAGCACCAGAGATTCCATTCTTTCCTCCCCATCATTTTCCTGAGCCATCCTACTCTTCCAGATAATCCTATATGCTTATTTTGCCAAGGACCTTTTTATTCTTCAAAACTCGTAATTTTGTTCAACTTTCTCTAAAATATTTCTTTACTTCTTCAAATCATCTCTCTCCATAGCAACCAGAATCCAATGAAAGGACTTGGTCCATCTATTAATTTTGGTTTGTTTGCCATTATTAGTGTTTGTCATGTACATTTTACATGTACACACACACCTACACAGAGGTGGAGGTCTCTAAGTATCACTATTCTTTCTCTCTTTATCACTTTTTCCCTTTGGCTCCTTCTTCCTCTCCCACTCTCTCCTAGTCCCTTTCCTTGCCATATCTTAAGTCTTCCCTTAAAAATCTAGTCACCTCCCTATTTCTGTGTCCATAGGTTATTGGGCATGGAGTAGGACACAGGGTACGAGAGACTCTAAATACCTATTGCATGAATACTTGCAGCTGCTGAATAACTGTGAACCAATTGTGACTTCAGTTTTATGTCATTAGAGCCTTCTTGAACATCTCATTTAAAAAGCATTCCTTTGCAAAGTTCCATATAAATAAATACATCACTGTAAGTACATCATTTAGATGGTGAACAAATAGGCCTAGAAATTCAAATGCAGTTACTGAATTGGGAGTATGGGAGATAAGGGCGGGGGGGCGGTGCATAATTTAGAATAAAACACATGGCTAAATGAATTACAAAGGAAAGGTCCTCTTACCTGGTCAAGCATGTGAACTATGCATGTGTATTCAAAATTCAGCATACAGTGTTTGAATTTTGTTTTTGATGATATGGAACATCTAGAGGTATTTTTAAATGTTCAGTAACTACTAACATTTCTTCTAAAAATGTGATTGAGTGATTGAGGAAAGCAGCATTATTCTGTCACTAATTCTGAGTTTTGGATTTTAGGTCTTGTCGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGGTGGAGTATTATTCAGCCTTGAAGAGGTAACAACTTTTCATTGTACAGCATGTGCATGCTTTTGTGTCAGGAATTTTGTACATTGCAGCGCAATAATTTTGTACATAATGTACAATATCTGTGTATATCCCAGTCCCTGAGTGCTCTCCCCAACTTGGTGCTTTACCATGTGACTAGAAATCCAGTCGGCAGTTTTCATCCATTAGTTGACTCTCATGCCTGCAGCACAACATTTCACCTGAAATAGTTTCTGCGTATTGACTGAGTTTGCTTTCTCACCTTCTTTCTTCTAGGTCAGCTACTATTTTCCCCTCAAAACATTGTGGCGTTCATTCTTTGCTGCCTTGGTGGCAGCATTCACTCTACGCTCCATCAATCCATTTGGGAACAGCCGCCTGGTACTATTTTATGTGGAGTTTCACACCCCATGGCATCTCTTTGAGCTCGTGCCATTCATTCTGCTGGGCATATTTGGTGGTCTGTGGGGAGCACTGTTTATCCGCACAAACATTGCCTGGTGTCGGAAGCGAAAGACCACCCAGTTGGGCAAGTATCCTGTTATAGAGGTACTCGTCGTGACAGCCATCACTGCCATCCTGGCTTTCCCCAATGAATACACTCGGATGAGCACAAGTGAGCTCATTTCTGAGCTGTTTAATGACTGTGGCCTTCTGGACTCCTCCAAGCTCTGTGATTATGAGAACCGTTTCAACACAAGCAAAGGGGGTGAACTGCCTGACAGACCGGCTGGCGTGGGAGTCTACAGTGCAATGTGGCAGCTGGCTTTAACACTCATACTGAAAATTGTCATTACTATATTCACCTTTGGCATGAAGGTGAGGAATTCTTTTGGGACTCAGTGGCTGCATGCGTAGCTGTGGGTTTTGGAGGGCAGAGCCCAGGTATCATACAATCCTGATAGCTCATATGGTGCTTTCAAATCCCCCTCACATTATTCCCCCACCCCCAAAGCCTCTTTTACCCCACACGTTCTCATAATTTGCTAGACACTTGTACCTCTATCTCAAATTGTCCAAGCCTTGAGTTGTCCAAATGCCAGCCTCAGTGATGAAATTTTAGGAAGAATGTTTGCTCCTTTTCTGTGGAAAACATATTTTGCCCCTCAAAAATGATGGTGAAGTATTTATTCCAGTACATTTCATATTAAAATGATATCTGACCACCACAGTGTTACTCCTTATAGGGTGGCTTTAGAGTTTACCAATAAAGCACAATATTGATTGAACCAAAGAAGTTGCTGGGATTCGACCATTTTGACTGCTAAAATGGCAATTTCCTGTGGTTCAACCCAATATATAGCTAAATATAGTTTTTTACAGTGGTATCAATGTTCAGTTGTCAAGAAGTGGGATCCACTTCACAGGTGATCCTTAGTTAATATTTAAGCTATCAAAAGTGGACATCAGGCTGGCACGTTTTACTTTAGGTACCTGTTACCATTTCCACGTTTCAGAAGAAGCCAGAAAAGAAAATTTGTTAAGGTATTTTCCTCCTCCTTTCTAGGTTTTTGTTTGTTTCTTTCTTTTCTTTAGCACCCTAACTACCAAGTTATTTTCCTCTATTCTCTAGAGAAATGGAGATTCAAGCCAGAAGAGATAGCAACTCAGTTTAGGCATTATTGTAATCTCTAAGATGACGCCATCCATCCCCTCAATACAGGGAAGGGATGGAGACCCTGAGAAATTTTGCAGTGCTTCTTGAGTTAATTTTCACCTCATGCCTGCATTCTTTCACTTAAAGGGAATTTGTAAACCATCAGAACACCAGATTCAAATGCATTCCAAAATCAAACACAGGCTATTTTAAAAGAATCTGCTGTTTTGGTTATCCTTATCATCATTTCCCTCTCTCAGTACAGAATATTAAGAATTTACTATAGTATCCTAGGAGTCAAGAAAAAGAGTGGGGAGATAGATGAGCTTTACTTTTTTGGTTAATCTTGTAACCATAGTCATGATCTCATTACAATTTTTTAATTGTTTAATCTTTCTTGATACTGTTACAAAATAGACTGAAACCTCATGTGCTATATCCTTTTTGTGTGAGCAATGGGCTAAGATTCAATATATGAGCATGGTTATGAGCATTCCATTTAAATCCCAGCACCAGTCTTTACTAAATCTTGACCTTGGGTGGGTTACTTAACCTCTCTGAACCTTAGGTTCTTTGGCATTTGGGAATAATAATGCCTGCCTCCTGGGGTTATAAAGAACCCATGAATCTTGCATGTAGAGCGTCCAGCATAGAACATGGTAGGTACTCAATAAAGGGTAGTCATTGTTGATAAGAATTCAAAATTGGTGGAAATGTCTGCATATATGAGAAACTCCATCTATTTTCCTTTTTCTTTGGGAAAGGCCCAATTTCTGCCTCCAGTTCTGTGTTGGTCTGGAGAGTTCAGGCTCTTGCCTGATGGACCCCGAATCAGGGTAAGCTTCTTTGCAGTCGTCCTTGCCTGCACGTCCCAGAGAACCTCTAGTCCCTGTAGTGTTACACACACCTTTACAGCCACTTGCTAGCATAGTGCATAGTTAAATTGTCATCGGCCTGTTTGCTTTGCAGAGGGTCAGTCCTCCAGCCCTTACCATGTGCCAAGCAATCACATCATTTCTCACTAACCATCTATTGGT
|
CCCAGGCCAGTGTTGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACAACCGGCTAGTATTTGAATCTTAAATTTACTTTCTAGCACTTATTTAGACTTTCCAGTTATTTTTTCCTGTTGCTTTCATCATCAGCGGCAACCTTTTTTGTCTTATGGCCTTGTCAAAGTGGGCAGATGGTTGAGAGTAAAACAGACTTGAGAAAGAAGGGTGTAGACAGACTCCACTCTACAATATAAAATTAAAGCAAACTAGCTACCCCGATTCTTTCTGTCTCTTGATTCATCCTAAACATAGTCACTGAAATCCCCTTTCTCAAGTTGCATGTTGGCTGTCCTCATCTTTCTTAAATGAAAGCCATTGTAGCTAGGAATTTCAAAGCCCTTCCAGCTAGCACCAGAGATTCCATTCTTTCCTCCCCATCATTTTCCTGAGCCATCCTACTCTTCCAGATAATCCTATATGCTTATTTTGCCAAGGACCTTTTTATTCTTCAAAACTCGTAATTTTGTTCAACTTTCTCTAAAATATTTCTTTACTTCTTCAAATCATCTCTCTCCATAGCAACCAGAATCCAATGAAAGGACTTGGTCCATCTATTAATTTTGGTTTGTTTGCCATTATTAGTGTTTGTCATGTACATTTTACATGTACACACACACCTACACAGAGGTGGAGGTCTCTAAGTATCACTATTCTTTCTCTCTTTATCACTTTTTCCCTTTGGCTCCTTCTTCCTCTCCCACTCTCTCCTAGTCCCTTTCCTTGCCATATCTTAAGTCTTCCCTTAAAAATCTAGTCACCTCCCTATTTCTGTGTCCATAGGTTATTGGGCATGGAGTAGGACACAGGGTACGAGAGACTCTAAATACCTATTGCATGAATACTTGCAGCTGCTGAATAACTGTGAACCAATTGTGACTTCAGTTTTATGTCATTAGAGCCTTCTTGAACATCTCATTTAAAAAGCATTCCTTTGCAAAGTTCCATATAAATAAATACATCACTGTAAGTACATCATTTAGATGGTGAACAAATAGGCCTAGAAATTCAAATGCAGTTACTGAATTGGGAGTATGGGAGATAAGGGCGGGGGGGCGGTGCATAATTTAGAATAAAACACATGGCTAAATGAATTACAAAGGAAAGGTCCTCTTACCTGGTCAAGCATGTGAACTATGCATGTGTATTCAAAATTCAGCATACAGTGTTTGAATTTTGTTTTTGATGATATGGAACATCTAGAGGTATTTTTAAATGTTCAGTAACTACTAACATTTCTTCTAAAAATGTGATTGAGTGATTGAGGAAAGCAGCATTATTCTGTCACTAATTCTGAGTTTTGGATTTTAGGTCTTGTCGGCTGCAGCAGCAGCTGGTGTATCTGTAGCCTTTGGAGCACCTATAGGTGGAGTATTATTCAGCCTTGAAGAGGTAACAACTTTTCATTGTACAGCATGTGCATGCTTTTGTGTCAGGAATTTTGTACATTGCAGCGCAATAATTTTGTACATAATGTACAATATCTGTGTATATCCCAGTCCCTGAGTGCTCTCCCCAACTTGGTGCTTTACCATGTGACTAGAAATCCAGTCGGCAGTTTTCATCCATTAGTTGACTCTCATGCCTGCAGCACAACATTTCACCTGAAATAGTTTCTGCGTATTGACTGAGTTTGCTTTCTCACCTTCTTTCTTCTAGGTCAGCTACTATTTTCCCCTCAAAACATTGTGGCGTTCATTCTTTGCTGCCTTGGTGGCAGCATTCACTCTACGCTCCATCAATCCATTTGGGAACAGCCGCCTGGTACTATTTTATGTGGAGTTTCACACCCCATGGCATCTCTTTGAGCTCGTGCCATTCATTCTGCTGGGCATATTTGGTGGTCTGTGGGGAGCACTGTTTATCCGCACAAACATTGCCTGGTGTCGGAAGCGAAAGACCACCCAGTTGGGCAAGTATCCTGTTATAGAGGTACTCGTCGTGACAGCCATCACTGCCATCCTGGCTTTCCCCCAATGAATACACTCGGATGAGCACAAGTGAGCTCATTTCTGAGCTGTTTAATGACTGTGGCCTTCTGGACTCCTCCAAGCTCTGTGATTATGAGAACCGTTTCAACACAAGCAAAGGGGGTGAACTGCCTGACAGACCGGCTGGCGTGGGAGTCTACAGTGCAATGTGGCAGCTGGCTTTAACACTCATACTGAAAATTGTCATTACTATATTCACCTTTGGCATGAAGGTGAGGAATTCTTTTGGGACTCAGTGGCTGCATGCGTAGCTGTGGGTTTTGGAGGGCAGAGCCCAGGTATCATACAATCCTGATAGCTCATATGGTGCTTTCAAATCCCCCTCACATTATTCCCCCACCCCCAAAGCCTCTTTTACCCCACACGTTCTCATAATTTGCTAGACACTTGTACCTCTATCTCAAATTGTCCAAGCCTTGAGTTGTCCAAATGCCAGCCTCAGTGATGAAATTTTAGGAAGAATGTTTGCTCCTTTTCTGTGGAAAACATATTTTGCCCCTCAAAAATGATGGTGAAGTATTTATTCCAGTACATTTCATATTAAAATGATATCTGACCACCACAGTGTTACTCCTTATAGGGTGGCTTTAGAGTTTACCAATAAAGCACAATATTGATTGAACCAAAGAAGTTGCTGGGATTCGACCATTTTGACTGCTAAAATGGCAATTTCCTGTGGTTCAACCCAATATATAGCTAAATATAGTTTTTTACAGTGGTATCAATGTTCAGTTGTCAAGAAGTGGGATCCACTTCACAGGTGATCCTTAGTTAATATTTAAGCTATCAAAAGTGGACATCAGGCTGGCACGTTTTACTTTAGGTACCTGTTACCATTTCCACGTTTCAGAAGAAGCCAGAAAAGAAAATTTGTTAAGGTATTTTCCTCCTCCTTTCTAGGTTTTTGTTTGTTTCTTTCTTTTCTTTAGCACCCTAACTACCAAGTTATTTTCCTCTATTCTCTAGAGAAATGGAGATTCAAGCCAGAAGAGATAGCAACTCAGTTTAGGCATTATTGTAATCTCTAAGATGACGCCATCCATCCCCTCAATACAGGGAAGGGATGGAGACCCTGAGAAATTTTGCAGTGCTTCTTGAGTTAATTTTCACCTCATGCCTGCATTCTTTCACTTAAAGGGAATTTGTAAACCATCAGAACACCAGATTCAAATGCATTCCAAAATCAAACACAGGCTATTTTAAAAGAATCTGCTGTTTTGGTTATCCTTATCATCATTTCCCTCTCTCAGTACAGAATATTAAGAATTTACTATAGTATCCTAGGAGTCAAGAAAAAGAGTGGGGAGATAGATGAGCTTTACTTTTTTGGTTAATCTTGTAACCATAGTCATGATCTCATTACAATTTTTTAATTGTTTAATCTTTCTTGATACTGTTACAAAATAGACTGAAACCTCATGTGCTATATCCTTTTTGTGTGAGCAATGGGCTAAGATTCAATATATGAGCATGGTTATGAGCATTCCATTTAAATCCCAGCACCAGTCTTTACTAAATCTTGACCTTGGGTGGGTTACTTAACCTCTCTGAACCTTAGGTTCTTTGGCATTTGGGAATAATAATGCCTGCCTCCTGGGGTTATAAAGAACCCATGAATCTTGCATGTAGAGCGTCCAGCATAGAACATGGTAGGTACTCAATAAAGGGTAGTCATTGTTGATAAGAATTCAAAATTGGTGGAAATGTCTGCATATATGAGAAACTCCATCTATTTTCCTTTTTCTTTGGGAAAGGCCCAATTTCTGCCTCCAGTTCTGTGTTGGTCTGGAGAGTTCAGGCTCTTGCCTGATGGACCCCGAATCAGGGTAAGCTTCTTTGCAGTCGTCCTTGCCTGCACGTCCCAGAGAACCTCTAGTCCCTGTAGTGTTACACACACCTTTACAGCCACTTGCTAGCATAGTGCATAGTTAAATTGTCATCGGCCTGTTTGCTTTGCAGAGGGTCAGTCCTCCAGCCCTTACCATGTGCCAAGCAATCACATCATTTCTCACTAACCATCTATTGG
|
pathogenic
| 334,339 |
Regarding the variant found on chromosome X at position 50090142 in gene CLCN5: is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic
|
TGTGTGAGCAATGGGCTAAGATTCAATATATGAGCATGGTTATGAGCATTCCATTTAAATCCCAGCACCAGTCTTTACTAAATCTTGACCTTGGGTGGGTTACTTAACCTCTCTGAACCTTAGGTTCTTTGGCATTTGGGAATAATAATGCCTGCCTCCTGGGGTTATAAAGAACCCATGAATCTTGCATGTAGAGCGTCCAGCATAGAACATGGTAGGTACTCAATAAAGGGTAGTCATTGTTGATAAGAATTCAAAATTGGTGGAAATGTCTGCATATATGAGAAACTCCATCTATTTTCCTTTTTCTTTGGGAAAGGCCCAATTTCTGCCTCCAGTTCTGTGTTGGTCTGGAGAGTTCAGGCTCTTGCCTGATGGACCCCGAATCAGGGTAAGCTTCTTTGCAGTCGTCCTTGCCTGCACGTCCCAGAGAACCTCTAGTCCCTGTAGTGTTACACACACCTTTACAGCCACTTGCTAGCATAGTGCATAGTTAAATTGTCATCGGCCTGTTTGCTTTGCAGAGGGTCAGTCCTCCAGCCCTTACCATGTGCCAAGCAATCACATCATTTCTCACTAACCATCTATTGGTTTCTCTTTGCAGATCCCTTCTGGCCTCTTTATCCCTAGCATGGCTGTTGGTGCTATAGCAGGTCGACTTCTAGGAGTAGGAATGGAACAGCTGGCTTATTACCACCAGGAATGGACCGTCTTCAATAGCTGGTGTAGTCAGGGAGCTGATTGCATCACCCCCGGCCTTTATGCAATGGTTGGGGCTGCAGCCTGCTTAGGTGAGTAGTGTTTGCATTAATTTCAAGTTGCTACCCAGGTGACATACAACAGAAGAGTTTATTAAACACAGTTGACTGTAGGAGAATTTAAATGCCCATCCCTTTCCAGTTAGGTTTGCCATTTTCCAAGCACATTAAGAAAGCATCTGGTATACAGATGAGGAAACTAAAAAAAATAAAAATAAAAATCATAATAAAAAAGAAAAGGAATTCTACTCTCATACTGGGGAAATAATCAGAAATTTAGACAAAGATATCTGCACAAGAATATGTATCATAGTATAAGAGCAAAAAATTAGAATCAACCTAAATTTGCACTTGAGGGACTGGTTAAATGAATTATGGTACATCCATATGATGTTATACAATGCAGCCTTTAAATGTGATGTTAATTGTTAATATGTTTAACATCTTAAAATATGATGTTATATAAATTTGTAATAATATGCAGAATGTTCCCAACATAAAGTAGAGGGGGAAACATGGCAGAAAATTAAACATATAATGTGAGTTCACTCATTTAAAAACATATGTTTTTGCATAGAAAAAAACTTGAAAAAGTCATTCAGAATTTTTACTCTGCTTATTTATTGGCAGTCAGCTAATAGATAATGACTTTCTTTTATATTTTCTGGATTTTCCACAATGGCATGTATTTTCTAATTAGGGAAAAGAAGCAACAGAAAAATGAAAGAACAAAGAAACAAGAAGGCATCTTGGACTGGACATGGTAGCTCACACCTGTAATCCTAGCTACTTAGGAGGCAGAGGTGGGAGGATCACTTGAGGTTAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAAACCCCAATTCGACAAAAAATAAAAAGTTAGTTAGGTGTGGTGGCACATGCCTGTAGTCTCAGCTACTCAGGAGGTTGAGGTGGGAGGATCACTTAAGCCTGGAAGATGGCAGTTGCAGTTAGTAGTGATAATGCCAGTGCACTCTAGCCTGGGTGACAGAGCACAAAACCCGTCTCAAAAAAAGAAAGAGAGAGAAAAAAGAAAAACAGAAGGCTTCTTGTAGATGTTATTTTGAGAACTCTGAATCGTCTCCATTGTGACCTTGCTTTCTTGCAATCTCTGGGGTCTGCACAGTTGTAGGTGAGACCTCATTGTTTTTGGTAGGTCAGCTTTTCCTGGAAAGGCCCATAATTGTAAGAATCCTGTATTTTGCCTACCTGAGTAGACTGTGTCTATTTCTTTGCAGGTGGGGTGACTCGGATGACTGTTTCTCTTGTTGTCATAATGTTTGAACTGACTGGTGGCTTAGAATACATCGTGCCTCTGATGGCTGCAGCCATGACAAGCAAGTGGGTGGCAGATGCTCTTGGGCGGGAGGGCATCTATGATGCCCACATCCGTCTCAATGGATACCCCTTTCTTGAAGCCAAAGAAGAGTTTGCTCATAAGACCCTGGCAATGGATGTGATGAAACCCCGGAGAAATGATCCTTTGTTGACTGTCCTTACTCAGGACAGTATGACTGTGGAAGATGTAGAGACCATAATCAGTGAAACCACTTACAGTGGCTTCCCAGTGGTGGTATCCCGGGAGTCCCAAAGACTTGTGGGCTTTGTCCTCCGAAGAGATCTCATTATTTCAATTGGTAAGGATTTCAGAAAGGGGATAGTGGAATCCACTGTGGAACTCAATAAATATGCCTGAAATGGGGGAAGACAGGGAAGGGGGGACTGGTTAGGAGCCAGAAGGATAGAGCTAGCACGTCCATCTTCAATTTGTTTTTTCCTTCTGTTTGAATAGAAAATGCTCGAAAGAAACAGGATGGGGTTGTTAGCACTTCCATCATTTATTTCACGGAGCATTCTCCTCCATTGCCACCATACACTCCACCCACTCTAAAGCTTCGGAACATCCTCGATCTCAGCCCCTTCACTGTGACTGACCTTACACCCATGGAGATCGTAGTGGATATTTTCCGAAAGCTGGGACTGCGGCAGTGCCTGGTTACACACAACGGGTAAGAAGTCTTGAGTGAAGTCAAATTGAATTGTGGGAGAAAGAGAATGCAGAGATAGAAAGAAGTAGAAAGAAGTAGAACCCAGTTTAAATGAACATTAGTAGCACTTTTAGGACTTCTTGAAGCTCTGAGATGAAAGTGGATAGGTTTTTTTAAATCATAATTAATGTAAAGGGAGTTTGGGAAAGAACATGTGTTTGAGAGATGTGAACTGCTGGTTGCATATTATAAATAACCCAGTTCCTCCCTGACAAAGGAAACACCTGTGTTTTGTGCATAGGCAGCACTGAAATTACAGTAGCATCAGGTAATAGTGTATTTGCTGGGTGTTTGTTCCCTACAATCTCCTTATTATTACTTGAGGATGAGAAAACCAAGTTTCAGTGAGGTGAGATTTATACAAAGTTCTCCAGCTAATAAATAGTAGAGAAAGGCTTTAAACACAAGTCTTCTGACTCCCAAGCCCATGGCTCTTTCCTTCCTGGGATAGTTCTTATCCAGTAAAGGGAACCCTTCTATTTTTATTGGAAAAGAAAGGAGGTTGAGGAGAGGGGTGGATTTTTTTCCCAAACATGCTACGTTAATCCAGCAATTATATAAGAATTTCACATCTGAAATTTCTAAATGGTGTAACAGATGCCTTGCAGGATTTAAATCAGTAAGGGGAGTTCCCTAACTGGTTCATTCAACATCTGCTGAATCCCTGCTCCATGTAAGAAGGTACTCCACTGGATTCCAGGGAGACACAAAAATTAATAAGACCCTTCTGTGCCCTCAAGGAGCAGACAGTGTTTTAAGGAAGGCAAGAACCTAGCAGTGGTTATAGTACAATAGCAAAGAGGACAAGTGCCACTGAGGAGGCCTGCAAAGAATGTGCATGCTGTTGCTGTGAGGAGGGCAGAGTTCCTGCTGGCTCATAGAATCAGGGAAGGTGCTCTGGAATAGGGGCGTTTGAACTGGGCTGCAGTAGATAAGATTCAGATATGTAGCGAAGAGTATTTAAACCAGAGGAAATCGCAGGGTCTGAGACCTAGAGGTAGAAACACTTGCATACATTTAGGAATCCACACATCATCCTATTTGCCTGGGGCACATGTCCTACTCCTGTGATCTCATACTGAAAGGGCAGCTAGTGATCAAAGACAAAGTTGAAAAGGACTGAGGAGGACAAGTATCACCTTTGGGAATGCTATTTTAACTACAGATTTATTTTTGTTTTTTTGTATTGTGTTTGTCTTTTAGGCGATTGCTTGGAATCATTACCAAAAAGGATGTGTTAAAGCATATAGCACAGATGGCGAAC
|
TGTGTGAGCAATGGGCTAAGATTCAATATATGAGCATGGTTATGAGCATTCCATTTAAATCCCAGCACCAGTCTTTACTAAATCTTGACCTTGGGTGGGTTACTTAACCTCTCTGAACCTTAGGTTCTTTGGCATTTGGGAATAATAATGCCTGCCTCCTGGGGTTATAAAGAACCCATGAATCTTGCATGTAGAGCGTCCAGCATAGAACATGGTAGGTACTCAATAAAGGGTAGTCATTGTTGATAAGAATTCAAAATTGGTGGAAATGTCTGCATATATGAGAAACTCCATCTATTTTCCTTTTTCTTTGGGAAAGGCCCAATTTCTGCCTCCAGTTCTGTGTTGGTCTGGAGAGTTCAGGCTCTTGCCTGATGGACCCCGAATCAGGGTAAGCTTCTTTGCAGTCGTCCTTGCCTGCACGTCCCAGAGAACCTCTAGTCCCTGTAGTGTTACACACACCTTTACAGCCACTTGCTAGCATAGTGCATAGTTAAATTGTCATCGGCCTGTTTGCTTTGCAGAGGGTCAGTCCTCCAGCCCTTACCATGTGCCAAGCAATCACATCATTTCTCACTAACCATCTATTGGTTTCTCTTTGCAGATCCCTTCTGGCCTCTTTATCCCTAGCATGGCTGTTGGTGCTATAGCAGGTCGACTTCTAGGAGTAGGAATGGAACAGCTGGCTTATTACCACCAGGAATGGACCGTCTTCAATAGCTGGTGTAGTCAGGGAGCTGATTGCATCACCCCCGGCCTTTATGCAATGGTTGGGGCTGCAGCCTGCTTAGGTGAGTAGTGTTTGCATTAATTTCAAGTTGCTACCCAGGTGACATACAACAGAAGAGTTTATTAAACACAGTTGACTGTAGGAGAATTTAAATGCCCATCCCTTTCCAGTTAGGTTTGCCATTTTCCAAGCACATTAAGAAAGCATCTGGTATACAGATGAGGAAACTAAAAAAAATAAAAATAAAAATCATAATAAAAAAGAAAAGGAATTCTACTCTCATACTGGGGAAATAATCAGAAATTTAGACAAAGATATCTGCACAAGAATATGTATCATAGTATAAGAGCAAAAAATTAGAATCAACCTAAATTTGCACTTGAGGGACTGGTTAAATGAATTATGGTACATCCATATGATGTTATACAATGCAGCCTTTAAATGTGATGTTAATTGTTAATATGTTTAACATCTTAAAATATGATGTTATATAAATTTGTAATAATATGCAGAATGTTCCCAACATAAAGTAGAGGGGGAAACATGGCAGAAAATTAAACATATAATGTGAGTTCACTCATTTAAAAACATATGTTTTTGCATAGAAAAAAACTTGAAAAAGTCATTCAGAATTTTTACTCTGCTTATTTATTGGCAGTCAGCTAATAGATAATGACTTTCTTTTATATTTTCTGGATTTTCCACAATGGCATGTATTTTCTAATTAGGGAAAAGAAGCAACAGAAAAATGAAAGAACAAAGAAACAAGAAGGCATCTTGGACTGGACATGGTAGCTCACACCTGTAATCCTAGCTACTTAGGAGGCAGAGGTGGGAGGATCACTTGAGGTTAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAAACCCCAATTCGACAAAAAATAAAAAGTTAGTTAGGTGTGGTGGCACATGCCTGTAGTCTCAGCTACTCAGGAGGTTGAGGTGGGAGGATCACTTAAGCCTGGAAGATGGCAGTTGCAGTTAGTAGTGATAATGCCAGTGCACTCTAGCCTGGGTGACAGAGCACAAAACCCGTCTCAAAAAAAGAAAGAGAGAGAAAAAAGAAAAACAGAAGGCTTCTTGTAGATGTTATTTTGAGAACTCTGAATCGTCTCCATTGTGACCTTGCTTTCTTGCAATCTCTGGGGTCTGCACAGTTGTAGGTGAGACCTCATTGTTTTTGGTAGGTCAGCTTTTCCTGGAAAGGCCCATAATTGTAAGAATCCTGTATTTTGCCTACCTGAGTAGACTGTGTCTATTTCTTTGCAGGTGGGGTGACTCGGATGACTGTTTCTCTTGTCATAATGTTTGAACTGACTGGTGGCTTAGAATACATCGTGCCTCTGATGGCTGCAGCCATGACAAGCAAGTGGGTGGCAGATGCTCTTGGGCGGGAGGGCATCTATGATGCCCACATCCGTCTCAATGGATACCCCTTTCTTGAAGCCAAAGAAGAGTTTGCTCATAAGACCCTGGCAATGGATGTGATGAAACCCCGGAGAAATGATCCTTTGTTGACTGTCCTTACTCAGGACAGTATGACTGTGGAAGATGTAGAGACCATAATCAGTGAAACCACTTACAGTGGCTTCCCAGTGGTGGTATCCCGGGAGTCCCAAAGACTTGTGGGCTTTGTCCTCCGAAGAGATCTCATTATTTCAATTGGTAAGGATTTCAGAAAGGGGATAGTGGAATCCACTGTGGAACTCAATAAATATGCCTGAAATGGGGGAAGACAGGGAAGGGGGGACTGGTTAGGAGCCAGAAGGATAGAGCTAGCACGTCCATCTTCAATTTGTTTTTTCCTTCTGTTTGAATAGAAAATGCTCGAAAGAAACAGGATGGGGTTGTTAGCACTTCCATCATTTATTTCACGGAGCATTCTCCTCCATTGCCACCATACACTCCACCCACTCTAAAGCTTCGGAACATCCTCGATCTCAGCCCCTTCACTGTGACTGACCTTACACCCATGGAGATCGTAGTGGATATTTTCCGAAAGCTGGGACTGCGGCAGTGCCTGGTTACACACAACGGGTAAGAAGTCTTGAGTGAAGTCAAATTGAATTGTGGGAGAAAGAGAATGCAGAGATAGAAAGAAGTAGAAAGAAGTAGAACCCAGTTTAAATGAACATTAGTAGCACTTTTAGGACTTCTTGAAGCTCTGAGATGAAAGTGGATAGGTTTTTTTAAATCATAATTAATGTAAAGGGAGTTTGGGAAAGAACATGTGTTTGAGAGATGTGAACTGCTGGTTGCATATTATAAATAACCCAGTTCCTCCCTGACAAAGGAAACACCTGTGTTTTGTGCATAGGCAGCACTGAAATTACAGTAGCATCAGGTAATAGTGTATTTGCTGGGTGTTTGTTCCCTACAATCTCCTTATTATTACTTGAGGATGAGAAAACCAAGTTTCAGTGAGGTGAGATTTATACAAAGTTCTCCAGCTAATAAATAGTAGAGAAAGGCTTTAAACACAAGTCTTCTGACTCCCAAGCCCATGGCTCTTTCCTTCCTGGGATAGTTCTTATCCAGTAAAGGGAACCCTTCTATTTTTATTGGAAAAGAAAGGAGGTTGAGGAGAGGGGTGGATTTTTTTCCCAAACATGCTACGTTAATCCAGCAATTATATAAGAATTTCACATCTGAAATTTCTAAATGGTGTAACAGATGCCTTGCAGGATTTAAATCAGTAAGGGGAGTTCCCTAACTGGTTCATTCAACATCTGCTGAATCCCTGCTCCATGTAAGAAGGTACTCCACTGGATTCCAGGGAGACACAAAAATTAATAAGACCCTTCTGTGCCCTCAAGGAGCAGACAGTGTTTTAAGGAAGGCAAGAACCTAGCAGTGGTTATAGTACAATAGCAAAGAGGACAAGTGCCACTGAGGAGGCCTGCAAAGAATGTGCATGCTGTTGCTGTGAGGAGGGCAGAGTTCCTGCTGGCTCATAGAATCAGGGAAGGTGCTCTGGAATAGGGGCGTTTGAACTGGGCTGCAGTAGATAAGATTCAGATATGTAGCGAAGAGTATTTAAACCAGAGGAAATCGCAGGGTCTGAGACCTAGAGGTAGAAACACTTGCATACATTTAGGAATCCACACATCATCCTATTTGCCTGGGGCACATGTCCTACTCCTGTGATCTCATACTGAAAGGGCAGCTAGTGATCAAAGACAAAGTTGAAAAGGACTGAGGAGGACAAGTATCACCTTTGGGAATGCTATTTTAACTACAGATTTATTTTTGTTTTTTTGTATTGTGTTTGTCTTTTAGGCGATTGCTTGGAATCATTACCAAAAAGGATGTGTTAAAGCATATAGCACAGATGGCGAACNNN
|
pathogenic
| 334,348 |
A genetic variant at chromosome X, position 50090430, affecting gene CLCN5—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Dent_disease_type_1', 'Proteinuria,_low_molecular_weight,_with_hypercalciuria_and_nephrocalcinosis']
|
CTCCATCTATTTTCCTTTTTCTTTGGGAAAGGCCCAATTTCTGCCTCCAGTTCTGTGTTGGTCTGGAGAGTTCAGGCTCTTGCCTGATGGACCCCGAATCAGGGTAAGCTTCTTTGCAGTCGTCCTTGCCTGCACGTCCCAGAGAACCTCTAGTCCCTGTAGTGTTACACACACCTTTACAGCCACTTGCTAGCATAGTGCATAGTTAAATTGTCATCGGCCTGTTTGCTTTGCAGAGGGTCAGTCCTCCAGCCCTTACCATGTGCCAAGCAATCACATCATTTCTCACTAACCATCTATTGGTTTCTCTTTGCAGATCCCTTCTGGCCTCTTTATCCCTAGCATGGCTGTTGGTGCTATAGCAGGTCGACTTCTAGGAGTAGGAATGGAACAGCTGGCTTATTACCACCAGGAATGGACCGTCTTCAATAGCTGGTGTAGTCAGGGAGCTGATTGCATCACCCCCGGCCTTTATGCAATGGTTGGGGCTGCAGCCTGCTTAGGTGAGTAGTGTTTGCATTAATTTCAAGTTGCTACCCAGGTGACATACAACAGAAGAGTTTATTAAACACAGTTGACTGTAGGAGAATTTAAATGCCCATCCCTTTCCAGTTAGGTTTGCCATTTTCCAAGCACATTAAGAAAGCATCTGGTATACAGATGAGGAAACTAAAAAAAATAAAAATAAAAATCATAATAAAAAAGAAAAGGAATTCTACTCTCATACTGGGGAAATAATCAGAAATTTAGACAAAGATATCTGCACAAGAATATGTATCATAGTATAAGAGCAAAAAATTAGAATCAACCTAAATTTGCACTTGAGGGACTGGTTAAATGAATTATGGTACATCCATATGATGTTATACAATGCAGCCTTTAAATGTGATGTTAATTGTTAATATGTTTAACATCTTAAAATATGATGTTATATAAATTTGTAATAATATGCAGAATGTTCCCAACATAAAGTAGAGGGGGAAACATGGCAGAAAATTAAACATATAATGTGAGTTCACTCATTTAAAAACATATGTTTTTGCATAGAAAAAAACTTGAAAAAGTCATTCAGAATTTTTACTCTGCTTATTTATTGGCAGTCAGCTAATAGATAATGACTTTCTTTTATATTTTCTGGATTTTCCACAATGGCATGTATTTTCTAATTAGGGAAAAGAAGCAACAGAAAAATGAAAGAACAAAGAAACAAGAAGGCATCTTGGACTGGACATGGTAGCTCACACCTGTAATCCTAGCTACTTAGGAGGCAGAGGTGGGAGGATCACTTGAGGTTAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAAACCCCAATTCGACAAAAAATAAAAAGTTAGTTAGGTGTGGTGGCACATGCCTGTAGTCTCAGCTACTCAGGAGGTTGAGGTGGGAGGATCACTTAAGCCTGGAAGATGGCAGTTGCAGTTAGTAGTGATAATGCCAGTGCACTCTAGCCTGGGTGACAGAGCACAAAACCCGTCTCAAAAAAAGAAAGAGAGAGAAAAAAGAAAAACAGAAGGCTTCTTGTAGATGTTATTTTGAGAACTCTGAATCGTCTCCATTGTGACCTTGCTTTCTTGCAATCTCTGGGGTCTGCACAGTTGTAGGTGAGACCTCATTGTTTTTGGTAGGTCAGCTTTTCCTGGAAAGGCCCATAATTGTAAGAATCCTGTATTTTGCCTACCTGAGTAGACTGTGTCTATTTCTTTGCAGGTGGGGTGACTCGGATGACTGTTTCTCTTGTTGTCATAATGTTTGAACTGACTGGTGGCTTAGAATACATCGTGCCTCTGATGGCTGCAGCCATGACAAGCAAGTGGGTGGCAGATGCTCTTGGGCGGGAGGGCATCTATGATGCCCACATCCGTCTCAATGGATACCCCTTTCTTGAAGCCAAAGAAGAGTTTGCTCATAAGACCCTGGCAATGGATGTGATGAAACCCCGGAGAAATGATCCTTTGTTGACTGTCCTTACTCAGGACAGTATGACTGTGGAAGATGTAGAGACCATAATCAGTGAAACCACTTACAGTGGCTTCCCAGTGGTGGTATCCCGGGAGTCCCAAAGACTTGTGGGCTTTGTCCTCCGAAGAGATCTCATTATTTCAATTGGTAAGGATTTCAGAAAGGGGATAGTGGAATCCACTGTGGAACTCAATAAATATGCCTGAAATGGGGGAAGACAGGGAAGGGGGGACTGGTTAGGAGCCAGAAGGATAGAGCTAGCACGTCCATCTTCAATTTGTTTTTTCCTTCTGTTTGAATAGAAAATGCTCGAAAGAAACAGGATGGGGTTGTTAGCACTTCCATCATTTATTTCACGGAGCATTCTCCTCCATTGCCACCATACACTCCACCCACTCTAAAGCTTCGGAACATCCTCGATCTCAGCCCCTTCACTGTGACTGACCTTACACCCATGGAGATCGTAGTGGATATTTTCCGAAAGCTGGGACTGCGGCAGTGCCTGGTTACACACAACGGGTAAGAAGTCTTGAGTGAAGTCAAATTGAATTGTGGGAGAAAGAGAATGCAGAGATAGAAAGAAGTAGAAAGAAGTAGAACCCAGTTTAAATGAACATTAGTAGCACTTTTAGGACTTCTTGAAGCTCTGAGATGAAAGTGGATAGGTTTTTTTAAATCATAATTAATGTAAAGGGAGTTTGGGAAAGAACATGTGTTTGAGAGATGTGAACTGCTGGTTGCATATTATAAATAACCCAGTTCCTCCCTGACAAAGGAAACACCTGTGTTTTGTGCATAGGCAGCACTGAAATTACAGTAGCATCAGGTAATAGTGTATTTGCTGGGTGTTTGTTCCCTACAATCTCCTTATTATTACTTGAGGATGAGAAAACCAAGTTTCAGTGAGGTGAGATTTATACAAAGTTCTCCAGCTAATAAATAGTAGAGAAAGGCTTTAAACACAAGTCTTCTGACTCCCAAGCCCATGGCTCTTTCCTTCCTGGGATAGTTCTTATCCAGTAAAGGGAACCCTTCTATTTTTATTGGAAAAGAAAGGAGGTTGAGGAGAGGGGTGGATTTTTTTCCCAAACATGCTACGTTAATCCAGCAATTATATAAGAATTTCACATCTGAAATTTCTAAATGGTGTAACAGATGCCTTGCAGGATTTAAATCAGTAAGGGGAGTTCCCTAACTGGTTCATTCAACATCTGCTGAATCCCTGCTCCATGTAAGAAGGTACTCCACTGGATTCCAGGGAGACACAAAAATTAATAAGACCCTTCTGTGCCCTCAAGGAGCAGACAGTGTTTTAAGGAAGGCAAGAACCTAGCAGTGGTTATAGTACAATAGCAAAGAGGACAAGTGCCACTGAGGAGGCCTGCAAAGAATGTGCATGCTGTTGCTGTGAGGAGGGCAGAGTTCCTGCTGGCTCATAGAATCAGGGAAGGTGCTCTGGAATAGGGGCGTTTGAACTGGGCTGCAGTAGATAAGATTCAGATATGTAGCGAAGAGTATTTAAACCAGAGGAAATCGCAGGGTCTGAGACCTAGAGGTAGAAACACTTGCATACATTTAGGAATCCACACATCATCCTATTTGCCTGGGGCACATGTCCTACTCCTGTGATCTCATACTGAAAGGGCAGCTAGTGATCAAAGACAAAGTTGAAAAGGACTGAGGAGGACAAGTATCACCTTTGGGAATGCTATTTTAACTACAGATTTATTTTTGTTTTTTTGTATTGTGTTTGTCTTTTAGGCGATTGCTTGGAATCATTACCAAAAAGGATGTGTTAAAGCATATAGCACAGATGGCGAACCAAGATCCTGATTCCATTCTCTTCAACTAGAATCATAGAGTTCTGGATGTAAAGCGGGAAGGACATTACAGACCATGGATATGTTGTATTAACTGGGTACCCAAAACACATTTTCCATATTTGGATGGTGAAGTCACATTAGTGTGTTGTCTCTTTCCTACAAGTTAACCAGTTGCACTACATAATCTCTGGAAATTAATTTTCTCTTTAGGAGAAATTATAGTTAGGCTTCCATGATGTTACATTAGGAAGATATCATGAAAGAATAAATAAGATTGCTATGGTTTA
|
CTCCATCTATTTTCCTTTTTCTTTGGGAAAGGCCCAATTTCTGCCTCCAGTTCTGTGTTGGTCTGGAGAGTTCAGGCTCTTGCCTGATGGACCCCGAATCAGGGTAAGCTTCTTTGCAGTCGTCCTTGCCTGCACGTCCCAGAGAACCTCTAGTCCCTGTAGTGTTACACACACCTTTACAGCCACTTGCTAGCATAGTGCATAGTTAAATTGTCATCGGCCTGTTTGCTTTGCAGAGGGTCAGTCCTCCAGCCCTTACCATGTGCCAAGCAATCACATCATTTCTCACTAACCATCTATTGGTTTCTCTTTGCAGATCCCTTCTGGCCTCTTTATCCCTAGCATGGCTGTTGGTGCTATAGCAGGTCGACTTCTAGGAGTAGGAATGGAACAGCTGGCTTATTACCACCAGGAATGGACCGTCTTCAATAGCTGGTGTAGTCAGGGAGCTGATTGCATCACCCCCGGCCTTTATGCAATGGTTGGGGCTGCAGCCTGCTTAGGTGAGTAGTGTTTGCATTAATTTCAAGTTGCTACCCAGGTGACATACAACAGAAGAGTTTATTAAACACAGTTGACTGTAGGAGAATTTAAATGCCCATCCCTTTCCAGTTAGGTTTGCCATTTTCCAAGCACATTAAGAAAGCATCTGGTATACAGATGAGGAAACTAAAAAAAATAAAAATAAAAATCATAATAAAAAAGAAAAGGAATTCTACTCTCATACTGGGGAAATAATCAGAAATTTAGACAAAGATATCTGCACAAGAATATGTATCATAGTATAAGAGCAAAAAATTAGAATCAACCTAAATTTGCACTTGAGGGACTGGTTAAATGAATTATGGTACATCCATATGATGTTATACAATGCAGCCTTTAAATGTGATGTTAATTGTTAATATGTTTAACATCTTAAAATATGATGTTATATAAATTTGTAATAATATGCAGAATGTTCCCAACATAAAGTAGAGGGGGAAACATGGCAGAAAATTAAACATATAATGTGAGTTCACTCATTTAAAAACATATGTTTTTGCATAGAAAAAAACTTGAAAAAGTCATTCAGAATTTTTACTCTGCTTATTTATTGGCAGTCAGCTAATAGATAATGACTTTCTTTTATATTTTCTGGATTTTCCACAATGGCATGTATTTTCTAATTAGGGAAAAGAAGCAACAGAAAAATGAAAGAACAAAGAAACAAGAAGGCATCTTGGACTGGACATGGTAGCTCACACCTGTAATCCTAGCTACTTAGGAGGCAGAGGTGGGAGGATCACTTGAGGTTAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAAACCCCAATTCGACAAAAAATAAAAAGTTAGTTAGGTGTGGTGGCACATGCCTGTAGTCTCAGCTACTCAGGAGGTTGAGGTGGGAGGATCACTTAAGCCTGGAAGATGGCAGTTGCAGTTAGTAGTGATAATGCCAGTGCACTCTAGCCTGGGTGACAGAGCACAAAACCCGTCTCAAAAAAAGAAAGAGAGAGAAAAAAGAAAAACAGAAGGCTTCTTGTAGATGTTATTTTGAGAACTCTGAATCGTCTCCATTGTGACCTTGCTTTCTTGCAATCTCTGGGGTCTGCACAGTTGTAGGTGAGACCTCATTGTTTTTGGTAGGTCAGCTTTTCCTGGAAAGGCCCATAATTGTAAGAATCCTGTATTTTGCCTACCTGAGTAGACTGTGTCTATTTCTTTGCAGGTGGGGTGACTCGGATGACTGTTTCTCTTGTTGTCATAATGTTTGAACTGACTGGTGGCTTAGAATACATCGTGCCTCTGATGGCTGCAGCCATGACAAGCAAGTGGGTGGCAGATGCTCTTGGGCGGGAGGGCATCTATGATGCCCACATCCGTCTCAATGGATACCCCTTTCTTGAAGCCAAAGAAGAGTTTGCTCATAAGACCCTGGCAATGGATGTGATGAAACCCCGGAGAAATGATCCTTTGTTGACTGTCCTTACTCAGGACAGTATGACTGTGGAAGATGTAGAGACCATAATCAGTGAAACCACTTAACAGTGGCTTCCCAGTGGTGGTATCCCGGGAGTCCCAAAGACTTGTGGGCTTTGTCCTCCGAAGAGATCTCATTATTTCAATTGGTAAGGATTTCAGAAAGGGGATAGTGGAATCCACTGTGGAACTCAATAAATATGCCTGAAATGGGGGAAGACAGGGAAGGGGGGACTGGTTAGGAGCCAGAAGGATAGAGCTAGCACGTCCATCTTCAATTTGTTTTTTCCTTCTGTTTGAATAGAAAATGCTCGAAAGAAACAGGATGGGGTTGTTAGCACTTCCATCATTTATTTCACGGAGCATTCTCCTCCATTGCCACCATACACTCCACCCACTCTAAAGCTTCGGAACATCCTCGATCTCAGCCCCTTCACTGTGACTGACCTTACACCCATGGAGATCGTAGTGGATATTTTCCGAAAGCTGGGACTGCGGCAGTGCCTGGTTACACACAACGGGTAAGAAGTCTTGAGTGAAGTCAAATTGAATTGTGGGAGAAAGAGAATGCAGAGATAGAAAGAAGTAGAAAGAAGTAGAACCCAGTTTAAATGAACATTAGTAGCACTTTTAGGACTTCTTGAAGCTCTGAGATGAAAGTGGATAGGTTTTTTTAAATCATAATTAATGTAAAGGGAGTTTGGGAAAGAACATGTGTTTGAGAGATGTGAACTGCTGGTTGCATATTATAAATAACCCAGTTCCTCCCTGACAAAGGAAACACCTGTGTTTTGTGCATAGGCAGCACTGAAATTACAGTAGCATCAGGTAATAGTGTATTTGCTGGGTGTTTGTTCCCTACAATCTCCTTATTATTACTTGAGGATGAGAAAACCAAGTTTCAGTGAGGTGAGATTTATACAAAGTTCTCCAGCTAATAAATAGTAGAGAAAGGCTTTAAACACAAGTCTTCTGACTCCCAAGCCCATGGCTCTTTCCTTCCTGGGATAGTTCTTATCCAGTAAAGGGAACCCTTCTATTTTTATTGGAAAAGAAAGGAGGTTGAGGAGAGGGGTGGATTTTTTTCCCAAACATGCTACGTTAATCCAGCAATTATATAAGAATTTCACATCTGAAATTTCTAAATGGTGTAACAGATGCCTTGCAGGATTTAAATCAGTAAGGGGAGTTCCCTAACTGGTTCATTCAACATCTGCTGAATCCCTGCTCCATGTAAGAAGGTACTCCACTGGATTCCAGGGAGACACAAAAATTAATAAGACCCTTCTGTGCCCTCAAGGAGCAGACAGTGTTTTAAGGAAGGCAAGAACCTAGCAGTGGTTATAGTACAATAGCAAAGAGGACAAGTGCCACTGAGGAGGCCTGCAAAGAATGTGCATGCTGTTGCTGTGAGGAGGGCAGAGTTCCTGCTGGCTCATAGAATCAGGGAAGGTGCTCTGGAATAGGGGCGTTTGAACTGGGCTGCAGTAGATAAGATTCAGATATGTAGCGAAGAGTATTTAAACCAGAGGAAATCGCAGGGTCTGAGACCTAGAGGTAGAAACACTTGCATACATTTAGGAATCCACACATCATCCTATTTGCCTGGGGCACATGTCCTACTCCTGTGATCTCATACTGAAAGGGCAGCTAGTGATCAAAGACAAAGTTGAAAAGGACTGAGGAGGACAAGTATCACCTTTGGGAATGCTATTTTAACTACAGATTTATTTTTGTTTTTTTGTATTGTGTTTGTCTTTTAGGCGATTGCTTGGAATCATTACCAAAAAGGATGTGTTAAAGCATATAGCACAGATGGCGAACCAAGATCCTGATTCCATTCTCTTCAACTAGAATCATAGAGTTCTGGATGTAAAGCGGGAAGGACATTACAGACCATGGATATGTTGTATTAACTGGGTACCCAAAACACATTTTCCATATTTGGATGGTGAAGTCACATTAGTGTGTTGTCTCTTTCCTACAAGTTAACCAGTTGCACTACATAATCTCTGGAAATTAATTTTCTCTTTAGGAGAAATTATAGTTAGGCTTCCATGATGTTACATTAGGAAGATATCATGAAAGAATAAATAAGATTGCTATGGTTT
|
pathogenic
| 334,350 |
Chromosome X, position 50607728, gene SHROOM4 (shroom family member 4): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
benign
|
GCCTAGGAAGGCAAAATAAGCATGGGCTTTGGAGTCAGACAGCTCTGGCTTTGAATGTTTGCTGTGTAACTTGGAATTAGTTAGTTTCCTCATCTGTCAAATGGGGATAATAATGGCTAATAGGGCTATTGGGAGGATTAAATGAAATAGATACATAATGTCTGGCAGTGTCTGGTATATAAGAAATACTTAATAAATGTTCATCCATTCATTTATTTGTTCTTTCTTCTTAAATATTTGTTAAGTGCCTACTATTGGGAGGTCATTTTCCCTTTTCCCTGCTATGATAGATAACAATCACAGGTATTTTTCACAAAATGTTTTCTAATTACAATGAGAATGCTCCCCAGGTAGAAGAACAGCTTGAGAAGCAGCCACATGGGATCTAATGAAGGATTCTTTTTTTTTTTTTTAATTATACTTTAAATTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACTCATCATCTAGCATTAGGTATGTCTCCCAATGCTATCCCTCCCCCCTCCCCCCCTCATGAAGGATTCTTAACAGTGCCTGGGAGCCAGGCCCTGTAAATGCTGTGCTTATGGCATCTTGGGCTGGAAAACTGATCAACTAGCTCCACATAGACAAGTCACAGATTTGTCTGACAATAAAAGACATGATAACAAGGTACTTCTAACCGCAACAAGTCTCAGGCAAATTCCTGCTATAAAGAGAGTTAAGGAAAGCACTTATAAGCCACCTGCCTCCCGAACCTCAGCCCCAGCAGAGAGTGGGCTGAGCTCTCCACAGGAGAGCAGGTGGAGCTGCTGACAGCCAGAGCACTGAGCAATAATAGCAATGATGGTCCTGGGGCTTTTGCTTTGGAGCAAAAGAAATTAAAAAAAAAAACCCAACCATGCACTATAGGGCATGCAGATGACAACTGGCTCAGTGGAGTGAACAAACACTGGCAGTCCTGCTGCCAGAACACACTCTTGCTTTGGCCTCCCTGCCCAGGCAGCTCACCCTGTCAACTACCACCTATTACACACCCACATGAATGCAAAGAGGCAGGTAAACAAGGAGGGGGAGAAAGTGGAAGAGAAAAAGAATGTCCTTATCTATTGTAAGGAATTATCAAGGCATGAAGCACCCAGCCCCAGGAATACCTTTGATGCTGGTGGTTGTGGGGGGACGAGTTTAGAAGCCCAGGCTACTTGTCCTAGAGCAGAGGCAGGTCAGGTTGTGAGCTGGCCTCTTATTCTGGAGGGCAAGCAGAAGAGAAGGCAGGAAAAGTGCCTGAGCCAGGTTTCTGGGAAAGACCTAGTATAGGCAACAAGTGTTCAATGCCTTTGGGATCAGGGGCCAGAAATTGATGGATACCATGAAGACACACTAAGGAAAAGTATAGTACTTTAATAAAGATATTTAGGGATAAGAACATGATATTTACTGAGCATGTACTATGTGCTAAGCATGGAGCTATATCCTTTATGTAGATTATCTTAATATTCATAACAATCATGTGAAGCAAGTATCATTATACCCATTTTCCAGGTAAGAAAACTGAGGCTGGGAGCAGTTTAACTGGCCAGCCTGAGGTCATCCAGTTAGTAAATAGTGGAGGTAAAATTCAAACTTGTGCTGCCTGCCTCTTCAGAGACCTAGTATCTTTCATATGTACTTACTTGGCGGATTCAGTGGCTTCCTGTCCCGATGTCCTCCAAAGCCCACCAATGCCATAGTAGCAAGGGGGCTGAGCCTGCTCAGGTTGAGATCCCAAGTGACCCCTTATTGGAGGCAAGAAATCACTGGAATGGAGTGCAAAGGATTCTTGCTCTGCTGGGACACTTTGTGAACCCTGTCTCGAGCCCTCCAGGTGGCCAAAGCTGAGGGGTTGTGGCTGCTCTAGGACCTCCTCAGGATTGAGAGCACAGGAACCAGAGGTTTCTGAACTGAAATACTGGGGTGGCAGCTCCTCTTCCTCCTCCTCTGCCTCCTCCTCCTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTGTTGCTTCTGCTGCTGCTGTTGCTGCTTCTGCTGCTGGGCTGCACGAAAGAGCCTGTACTTCTCCCAGTTGGGAGGAGGAGGGCGAGGAGGAGGAAAGGCCTTCTTCCTGGCTCCGAGAAGATCCGACTGGGTCTCATCACCTTTGCTAAAGAGCTCCCTCCTATGCTGCCCCCAGGCCCGGGTGCTTTGGGGCGCCAAGCTGATGTGACTCTCTGAGAAGGCACGGCTGCGCAGTGGGTGGGGCATGGAGGCAAGGGAGCTCCCCTCCTCATAAACTGAAGTTTCCTCTGATTTTTTCAAAGCATGTTTGAAGTCTCCAAGGAGGTCAAGAGAAGAAATTGCTCGGTAGCTTGACAAGTCCAGTGCTGGGTTCTCAAGGCAAGGATGGAAAGGGGTTGCCCATGAAAAGCTAGTCTTGGAATGAGCCATTTCCCTGCAAAACATCAGATGAGTACTGAGAAAAACAAGCAAGTTGCAGATAGGCCCATATTTTGGATGACAACATTTATATAAAATTTAAAATGTCCACAAAACAATGTAGTATGTGTAGTAAATGTAATAATAGTAATAATAATATTATAATAATGATAGCTAACACTTACTGAGCACACACTAAATACTAGGCACTGTTTAAGTGGTTTCCATGTCTTCACTTATCTAATCCTCACAATAACCCCAGGAGGTAGCTATTACTATTGCACTGATTTTACAGTTGGGGAAACTGAGGCATAGAGCATTTAAGTAACTTGCCTGGGGTCATAAAGCTAGTATGTGGTAGAGCTAGGATTTGAACTTGAACAGTTTAGCTCCAAAGTCTGGATATACACATACTACCCCAGTCTGTTTATAGGAGTCAGATTGCATGTGCTGTTTTCTGGGGCTTACAAGCCTGGTTATCCTGCCTCATCTGTTGTTTTTGTTTGTTTTTCATTATAAAAATGTTGAATATTTAGAAATGTACAGAGATTGATTGCCATAATACCCATGTTCCTACCTATCACCCAGACTTAGTAAGTTTGAATACTTTGCCATTTATGTTTTATGACTGTTTCTTAAGAAATAATACCCTTCACATAACTCTCCACTTCCATTCCCCTATTGCCTCTCTAGATGCAACCTGTATTATGAATTAGATATATATACTTTCTGTGTTTTTATACTTGTAACAAAAAACACCACACAGGTCATTCATAGTTATCTGCTATTTTGGATTTAAAATATCTCCTTCTGGCCAGACACAGTGGCTTATGCCTGTAATCCCAGCACTTTGAGAGGCTGAGGTGTGTAGATCACTTGTGTCCAGGAGTTCAAGACTAGCCTAGGCAACATAGCAAGACCCTGTCTCTAAATTTTTTTTTTAATTAGCTGTGCATGATGGTGCGTGCCTTTAGTCCCAGCTACATGGGAGGCTGAGATGGGAAGACAGCTTGAGACTGGGAGGTCGAGGCTACAGTGAGCCATCATTGCACCACTGTACTCCAGCTGGGGTGACAGAGTAAGACCTTGTCTCAAAAAAAAAAATATCCTAATGCAATTCCAATCAGAATTCTCAATAGGAATTTTTAAACTACATTTAACTACAGAATTTTTAGAAAATTAACTTGTAATAAAAGCAGGATATAATATTAAAGAGTATTCTGCTACAGAAGAAATGGGGAAGGGGGTAAGTAAGGGATAAAGTATATTATAAAATAATTGTAATTGAAACTGTGTTATTGATCAACAAAACAGAATAGAAAGTTCAGAAACAAAGCAGACTACCTATAAAAACATCATATACATAATCTTCCCCCAAAAAGGAGATAAAGAAATATTATTTAATAAATCTTTTTGAGATAACTGCAAAGCAGTGCTTTTTGGAGCTACATCATATATTATATACCAAAATAAATTCCAGATCAAGAGTCATGGATATGTGTGTGTGTGTGTGTGTGTGTGTGTATAATTTTAATATATTATATATGTTATATGTGTATATATATGTGTATATATTATGCACATATATAACATAAGAAAAACCTATC
|
GCCTAGGAAGGCAAAATAAGCATGGGCTTTGGAGTCAGACAGCTCTGGCTTTGAATGTTTGCTGTGTAACTTGGAATTAGTTAGTTTCCTCATCTGTCAAATGGGGATAATAATGGCTAATAGGGCTATTGGGAGGATTAAATGAAATAGATACATAATGTCTGGCAGTGTCTGGTATATAAGAAATACTTAATAAATGTTCATCCATTCATTTATTTGTTCTTTCTTCTTAAATATTTGTTAAGTGCCTACTATTGGGAGGTCATTTTCCCTTTTCCCTGCTATGATAGATAACAATCACAGGTATTTTTCACAAAATGTTTTCTAATTACAATGAGAATGCTCCCCAGGTAGAAGAACAGCTTGAGAAGCAGCCACATGGGATCTAATGAAGGATTCTTTTTTTTTTTTTTAATTATACTTTAAATTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACTCATCATCTAGCATTAGGTATGTCTCCCAATGCTATCCCTCCCCCCTCCCCCCCTCATGAAGGATTCTTAACAGTGCCTGGGAGCCAGGCCCTGTAAATGCTGTGCTTATGGCATCTTGGGCTGGAAAACTGATCAACTAGCTCCACATAGACAAGTCACAGATTTGTCTGACAATAAAAGACATGATAACAAGGTACTTCTAACCGCAACAAGTCTCAGGCAAATTCCTGCTATAAAGAGAGTTAAGGAAAGCACTTATAAGCCACCTGCCTCCCGAACCTCAGCCCCAGCAGAGAGTGGGCTGAGCTCTCCACAGGAGAGCAGGTGGAGCTGCTGACAGCCAGAGCACTGAGCAATAATAGCAATGATGGTCCTGGGGCTTTTGCTTTGGAGCAAAAGAAATTAAAAAAAAAAACCCAACCATGCACTATAGGGCATGCAGATGACAACTGGCTCAGTGGAGTGAACAAACACTGGCAGTCCTGCTGCCAGAACACACTCTTGCTTTGGCCTCCCTGCCCAGGCAGCTCACCCTGTCAACTACCACCTATTACACACCCACATGAATGCAAAGAGGCAGGTAAACAAGGAGGGGGAGAAAGTGGAAGAGAAAAAGAATGTCCTTATCTATTGTAAGGAATTATCAAGGCATGAAGCACCCAGCCCCAGGAATACCTTTGATGCTGGTGGTTGTGGGGGGACGAGTTTAGAAGCCCAGGCTACTTGTCCTAGAGCAGAGGCAGGTCAGGTTGTGAGCTGGCCTCTTATTCTGGAGGGCAAGCAGAAGAGAAGGCAGGAAAAGTGCCTGAGCCAGGTTTCTGGGAAAGACCTAGTATAGGCAACAAGTGTTCAATGCCTTTGGGATCAGGGGCCAGAAATTGATGGATACCATGAAGACACACTAAGGAAAAGTATAGTACTTTAATAAAGATATTTAGGGATAAGAACATGATATTTACTGAGCATGTACTATGTGCTAAGCATGGAGCTATATCCTTTATGTAGATTATCTTAATATTCATAACAATCATGTGAAGCAAGTATCATTATACCCATTTTCCAGGTAAGAAAACTGAGGCTGGGAGCAGTTTAACTGGCCAGCCTGAGGTCATCCAGTTAGTAAATAGTGGAGGTAAAATTCAAACTTGTGCTGCCTGCCTCTTCAGAGACCTAGTATCTTTCATATGTACTTACTTGGCGGATTCAGTGGCTTCCTGTCCCGATGTCCTCCAAAGCCCACCAATGCCATAGTAGCAAGGGGGCTGAGCCTGCTCAGGTTGAGATCCCAAGTGACCCCTTATTGGAGGCAAGAAATCACTGGAATGGAGTGCAAAGGATTCTTGCTCTGCTGGGACACTTTGTGAACCCTGTCTCGAGCCCTCCAGGTGGCCAAAGCTGAGGGGTTGTGGCTGCTCTAGGACCTCCTCAGGATTGAGAGCACAGGAACCAGAGGTTTCTGAACTGAAATACTGGGGTGGCAGCTCCTCTTCCTCCTCCTCTGCCTCCTCCTCCTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTGTTGCTTCTGCTGCTGCTGTTGCTGCTTCTGCTGCTGGGCTGCACGAAAGAGCCTGTACTTCTCCCAGTTGGGAGGAGGAGGGCGAGGAGGAGGAAAGGCCTTCTTCCTGGCTCCGAGAAGATCCGACTGGGTCTCATCACCTTTGCTAAAGAGCTCCCTCCTATGCTGCCCCCAGGCCCGGGTGCTTTGGGGCGCCAAGCTGATGTGACTCTCTGAGAAGGCACGGCTGCGCAGTGGGTGGGGCATGGAGGCAAGGGAGCTCCCCTCCTCATAAACTGAAGTTTCCTCTGATTTTTTCAAAGCATGTTTGAAGTCTCCAAGGAGGTCAAGAGAAGAAATTGCTCGGTAGCTTGACAAGTCCAGTGCTGGGTTCTCAAGGCAAGGATGGAAAGGGGTTGCCCATGAAAAGCTAGTCTTGGAATGAGCCATTTCCCTGCAAAACATCAGATGAGTACTGAGAAAAACAAGCAAGTTGCAGATAGGCCCATATTTTGGATGACAACATTTATATAAAATTTAAAATGTCCACAAAACAATGTAGTATGTGTAGTAAATGTAATAATAGTAATAATAATATTATAATAATGATAGCTAACACTTACTGAGCACACACTAAATACTAGGCACTGTTTAAGTGGTTTCCATGTCTTCACTTATCTAATCCTCACAATAACCCCAGGAGGTAGCTATTACTATTGCACTGATTTTACAGTTGGGGAAACTGAGGCATAGAGCATTTAAGTAACTTGCCTGGGGTCATAAAGCTAGTATGTGGTAGAGCTAGGATTTGAACTTGAACAGTTTAGCTCCAAAGTCTGGATATACACATACTACCCCAGTCTGTTTATAGGAGTCAGATTGCATGTGCTGTTTTCTGGGGCTTACAAGCCTGGTTATCCTGCCTCATCTGTTGTTTTTGTTTGTTTTTCATTATAAAAATGTTGAATATTTAGAAATGTACAGAGATTGATTGCCATAATACCCATGTTCCTACCTATCACCCAGACTTAGTAAGTTTGAATACTTTGCCATTTATGTTTTATGACTGTTTCTTAAGAAATAATACCCTTCACATAACTCTCCACTTCCATTCCCCTATTGCCTCTCTAGATGCAACCTGTATTATGAATTAGATATATATACTTTCTGTGTTTTTATACTTGTAACAAAAAACACCACACAGGTCATTCATAGTTATCTGCTATTTTGGATTTAAAATATCTCCTTCTGGCCAGACACAGTGGCTTATGCCTGTAATCCCAGCACTTTGAGAGGCTGAGGTGTGTAGATCACTTGTGTCCAGGAGTTCAAGACTAGCCTAGGCAACATAGCAAGACCCTGTCTCTAAATTTTTTTTTTAATTAGCTGTGCATGATGGTGCGTGCCTTTAGTCCCAGCTACATGGGAGGCTGAGATGGGAAGACAGCTTGAGACTGGGAGGTCGAGGCTACAGTGAGCCATCATTGCACCACTGTACTCCAGCTGGGGTGACAGAGTAAGACCTTGTCTCAAAAAAAAAAATATCCTAATGCAATTCCAATCAGAATTCTCAATAGGAATTTTTAAACTACATTTAACTACAGAATTTTTAGAAAATTAACTTGTAATAAAAGCAGGATATAATATTAAAGAGTATTCTGCTACAGAAGAAATGGGGAAGGGGGTAAGTAAGGGATAAAGTATATTATAAAATAATTGTAATTGAAACTGTGTTATTGATCAACAAAACAGAATAGAAAGTTCAGAAACAAAGCAGACTACCTATAAAAACATCATATACATAATCTTCCCCCAAAAAGGAGATAAAGAAATATTATTTAATAAATCTTTTTGAGATAACTGCAAAGCAGTGCTTTTTGGAGCTACATCATATATTATATACCAAAATAAATTCCAGATCAAGAGTCATGGATATGTGTGTGTGTGTGTGTGTGTGTGTGTATAATTTTAATATATTATATATGTTATATGTGTATATATATGTGTATATATTATGCACATATATAACATAAGAAAAACCTATCNNN
|
benign
| 334,379 |
A genetic variant on chromosome X, position 50916210, affects the gene BMP15 (bone morphogenetic protein 15). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
benign
|
GGGTGTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGACTCCCAAAGTGCTGGGATTAGAGGCGTGAGCCACCGCGCCCAGCCGGAATTTGAACTTTTAAAGATATTCTGGGGCTGGGTGCAGTGGCTCAAAGGGCGGCTAATCCCTGCACTTTGGGAGGCCAAAGGGGGCAGATCGCTTGAACCCAGGAGTTCGAGACCAGCCCGGCAACATGGCAAAACCCTGTCTCTACAAAAAACAAAACAGAAAAAGCTGGGCATGTTGGCACATACCTGTAGTCCTTGCTATCCATGGGGGCTGAGGTGAGAGGATCTCTTGAACCTGGGAAGTCAAGGCTGTAGTGAGCCATGATTGTGCCACTGTACTCCAGCCTGGGTGACAGAGGGAGACTCTGGAAAAAAAAATTCTGGAACATCAAGATGTAAAAGAACTTCTGTGTTAAAAATGCCACATCTAATGAAGAATTCCAGGCTTGTGGATTCAGTGGAGAAGAAGGACTAGGTGAATAAATACAAATTAACATGGAATTATTTACTGATAAGATGTCTGAAGATGAGAGGTGGCTTTTTCCTGTGGTGCCAGGCTTTTGTAATCTTTGCTCTTGACCTTCGCCGGGAGGGGGTGCAGAAGTTTGGAGCACCATGGATGTAACCTTTCAATCCTTTGGCCGTTGAGTGTCAGCACTACAGTTTGGATTAAAGCTCTTATTCACAAAGCAGCATCCAGCTTTTAGTAGACTTCTCAGCAAACAAAATATTTATGTGATCAAGACTGTGTTGAAAATAGTATATAGAGGAATAGTGGTAAAATGAATGGGGTAAATGGAGAACAATTTCCAGCAAGGAGTGGTAAAGAGAGAGATTAAGGGCCAAAGGAGGAAAAGATGCTTAAGAAGCAATTCTTGAAGTAGATGGAAGGCAGAAGTGGTAAGATAGCTGTCTGTACTAGAGGATGATAGACAAAATTATTTTGTAGTGCCTTGGTCCTGAGTTTGAAATTATAGCAGGCCATAGCACCCAATACTGAATTGTTGTCCCAAAGCTGCATCTGTATAGTGATATGACATGAGACTCTTTCTTAATCCATGTATGTTTCAACAATTCTAAATGGACACATTTAATGGTCAACTAATAATAATATTGATCTTCTCCCCTACATACAGTATGCACACAAGATAATTCTATATTTGAGTTTTTTCCCCCGAGCCCAGCACTGTAAGTAATCTAACAGTGAGACAGTTTCTCTTAAGAAAAACAGACTTGGGTTCAAATCTTAACTCTACCACATACCAGCTGTGTGTCCTTTGTCATAGCTTCTCTGAGCCTCAATTTCCTTATCTGCAAAATGGGGATAATAACTATCTCATAAGACTATTAAGAATTAAAGAGCTAATACATGTAAAGCATCTAGTGTATTAGTAAGTGCTCAGTAAATGATAGTATCATTATCTTGAGTTAATTTTAGGGCTGATTATAGCTATCAGTCTATATCAAGACAGTTTATGAGGAATATTCATGTTAAGAGGTAAGAAGCTAAACCTCTGCTCTTGTTCCCTCTTACTTCTGCAGGTACCTGGCATATACAGATCCTGGGCTTTCCTCTCAGACCAAACCGAGGACTATACCAACTAGTTAGAGCCACTGTGGTTTACCGCCATCATCTCCAACTAACTCGCTTCAATCTCTCCTGCCATGTGGAGCCCTGGGTGCAGAAAAACCCAACCAACCACTTCCCTTCCTCAGAAGGAGATTCCTCAAAACCTTCCCTGATGTCTAACGCTTGGAAAGAGATGGATATCACACAACTTGTTCAGCAAAGGTTCTGGAATAACAAGGGACACAGGATCCTACGACTCCGTTTTATGTGTCAGCAGCAAAAAGATAGTGGTGGTCTTGAGCTCTGGCATGGCACTTCATCCTTGGACATTGCCTTCTTGTTACTCTATTTCAATGATACTCATAAAAGCATTCGGAAGGCTAAATTTCTTCCCAGGGGCATGGAGGAGTTCATGGAAAGGGAATCTCTTCTCCGGAGAACCCGACAAGCAGATGGTATCTCAGCTGAGGTTACTGCCTCTTCCTCAAAACATAGCGGGCCTGAAAATAACCAGTGTTCCCTCCACCCTTTCCAAATCAGCTTCCGCCAGCTGGGTTGGGATCACTGGATCATTGCTCCCCCTTTCTACACCCCAAACTACTGTAAAGGAACTTGTCTCCGAGTACTACGCGATGGTCTCAATTCCCCCAATCACGCCATTATTCAGAACCTTATCAATCAGTTGGTGGACCAGAGTGTCCCCCGGCCCTCCTGTGTCCCGTATAAGTATGTTCCAATTAGTGTCCTTATGATTGAGGCAAATGGGAGTATTTTGTACAAGGAGTATGAGGGTATGATTGCTGAGTCTTGTACATGCAGATGACAGCAACAGTACGGCTAGATCAGGTTTCCCAGGAAACTGGAGGAGAGTTTAAAATATCAGTGTTAAAGCTGCAAGTAATCCTGTACCAATCTGTAGGTTATATTTCTTGCCTTAAGTGTTACTTAAGTCTCTTCCCCCACTTGTGAGCTAGTCAGTTTATAGAAACAGTTCTGATACCAGTCCCCTAGCATGAATCAGTACAGTTTGACCACTAATCAGAGCCCTTAATGCTTGGGTAAAATGTCCTCTATTTTACTTTCCTTGGGGCTTTGTCAAAAGTCAGCAGTCAGTAGTGGTAGAACTTCAGAAATTTTCCAACTTTTCCCAGCCTGGGAAAGGTGGGTGTCCATATTTTCCTAGTGTCCATATTCTGACGCTCTATAAGATTTGGGGTGGTGAAAATAGCTTGGGATTTTATACTCCTCTTCTTGCCTCCTATGTCCTGGAAACTACTAGTAGCTAATCAGATAAATTGCCTGCTTCTGTGTTAGTATTACCTTCTAAAACTTTTCTCAGACTGGAAATTTTTCAGGTAACAGTCTTTATAGAAATCTTTTGAGGGACTAGAAGGAAGGAAATGTTTTTCTAAACCAGCAGGGCTTTTCCTCTTAGCCTCTGAATCTGGGAAAAGTATCTGGGATTATTTCCTGTCCTAGGTGAGTACAGTAGCATTTAATGAAGCCCATAAGGAAACTAGAGTATGGAGCTGTCTGAGATAATCTACTTCAAACCTGCATTTATGGTGAAGAAGAGAAAACCTGTCATTGCTGATTAGTATTATGAATGGGGGAGTTATTTTAAGTATTCTATGGAACAATAGAGTTCAGAGTATTTTCCTTATGTGACACTTAAACCCCTGTAAATTATCCTACAAAGTTCCTTGGTGGCTCCGAGGCTAGGAGTTGGCCTGATTGGGGGTGCAGGGGATTAGAGGGCTGTGAAGGAAGGACTACAGAATAAGGGTGAAACCTGCCAAGGCCTGGAGCTGACTTTATTCTGGGCTTGCCTGTTTCTTGTGTTCAGTTTGGATCTGGACCGGGGTCTCTAAGGGAGAAGGGCTTGTTGTCTTTGGGAGACATGGAACGATGCCTTGAAATAAATGATGCTTGCAGTGTGACTCCTTTCTACTCCTATACTGTATTTAAATGACGGGACTGGGTTTTGTTGCAAATAAATCATTTCACTGTTGAAGAAAATCTTGACTGTTTTTAGAATTGGGAGAGATTGGAAGGAATTTATTTCCTTTGTTCCCTTTAGCTATGGCTAGGAATTCAACCCTAATCCCTGAGGGGCAGGGCTGGAGCGTCCTCTGAAGTTCTTCTCTCTTAAGGAAACACTGCTAGCCATCAGCCCTCGCCAAGGTGCCCCTTTAGGGAAGCCCCTAAGGGGCCAGTAAGTCTTTCCCTGCCCAATTGCTCTTGACTAGTCTTATGGCAATTCTCATGGGATGGGACTGATTTAGGGTAGGTATGTGTGTTTGTCAAATCCCTACGTTTCTTACCTATTCATTGTAAACTAACTCCTTTTACCACTCCCTTCAAAAGCTGGTTCCAACTAGGCTGAATATCTTGCAAGTGTATAAATGCAAATTTTATTCTTGTGACTGAGGAGCTATTCCTTAACATCAGTTTGCCTGTCTACCTTCTTTAC
|
GGGTGTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGACTCCCAAAGTGCTGGGATTAGAGGCGTGAGCCACCGCGCCCAGCCGGAATTTGAACTTTTAAAGATATTCTGGGGCTGGGTGCAGTGGCTCAAAGGGCGGCTAATCCCTGCACTTTGGGAGGCCAAAGGGGGCAGATCGCTTGAACCCAGGAGTTCGAGACCAGCCCGGCAACATGGCAAAACCCTGTCTCTACAAAAAACAAAACAGAAAAAGCTGGGCATGTTGGCACATACCTGTAGTCCTTGCTATCCATGGGGGCTGAGGTGAGAGGATCTCTTGAACCTGGGAAGTCAAGGCTGTAGTGAGCCATGATTGTGCCACTGTACTCCAGCCTGGGTGACAGAGGGAGACTCTGGAAAAAAAAATTCTGGAACATCAAGATGTAAAAGAACTTCTGTGTTAAAAATGCCACATCTAATGAAGAATTCCAGGCTTGTGGATTCAGTGGAGAAGAAGGACTAGGTGAATAAATACAAATTAACATGGAATTATTTACTGATAAGATGTCTGAAGATGAGAGGTGGCTTTTTCCTGTGGTGCCAGGCTTTTGTAATCTTTGCTCTTGACCTTCGCCGGGAGGGGGTGCAGAAGTTTGGAGCACCATGGATGTAACCTTTCAATCCTTTGGCCGTTGAGTGTCAGCACTACAGTTTGGATTAAAGCTCTTATTCACAAAGCAGCATCCAGCTTTTAGTAGACTTCTCAGCAAACAAAATATTTATGTGATCAAGACTGTGTTGAAAATAGTATATAGAGGAATAGTGGTAAAATGAATGGGGTAAATGGAGAACAATTTCCAGCAAGGAGTGGTAAAGAGAGAGATTAAGGGCCAAAGGAGGAAAAGATGCTTAAGAAGCAATTCTTGAAGTAGATGGAAGGCAGAAGTGGTAAGATAGCTGTCTGTACTAGAGGATGATAGACAAAATTATTTTGTAGTGCCTTGGTCCTGAGTTTGAAATTATAGCAGGCCATAGCACCCAATACTGAATTGTTGTCCCAAAGCTGCATCTGTATAGTGATATGACATGAGACTCTTTCTTAATCCATGTATGTTTCAACAATTCTAAATGGACACATTTAATGGTCAACTAATAATAATATTGATCTTCTCCCCTACATACAGTATGCACACAAGATAATTCTATATTTGAGTTTTTTCCCCCGAGCCCAGCACTGTAAGTAATCTAACAGTGAGACAGTTTCTCTTAAGAAAAACAGACTTGGGTTCAAATCTTAACTCTACCACATACCAGCTGTGTGTCCTTTGTCATAGCTTCTCTGAGCCTCAATTTCCTTATCTGCAAAATGGGGATAATAACTATCTCATAAGACTATTAAGAATTAAAGAGCTAATACATGTAAAGCATCTAGTGTATTAGTAAGTGCTCAGTAAATGATAGTATCATTATCTTGAGTTAATTTTAGGGCTGATTATAGCTATCAGTCTATATCAAGACAGTTTATGAGGAATATTCATGTTAAGAGGTAAGAAGCTAAACCTCTGCTCTTGTTCCCTCTTACTTCTGCAGGTACCTGGCATATACAGATCCTGGGCTTTCCTCTCAGACCAAACCGAGGACTATACCAACTAGTTAGAGCCACTGTGGTTTACCGCCATCATCTCCAACTAACTCGCTTCAATCTCTCCTGCCATGTGGAGCCCTGGGTGCAGAAAAACCCAACCAACCACTTCCCTTCCTCAGAAGGAGATTCCTCAAAACCTTCCCTGATGTCTAACGCTTGGAAAGAGATGGATATCACACAACTTGTTCAGCAAAGGTTCTGGAATAACAAGGGACACAGGATCCTACGACTCCGTTTTATGTGTCAGCAGCAAAAAGATAGTGGTGGTCTTGAGCTCTGGCATGGCACTTCATCCTTGGACATTGCCTTCTTGTTACTCTATTTCAATGATACTCATAAAAGCATTCGGAAGGCTAAATTTCTTCCCAGGGGCATGGAGGAGTTCATGGAAAGGGAATCTCTTCTTCTCCGGAGAACCCGACAAGCAGATGGTATCTCAGCTGAGGTTACTGCCTCTTCCTCAAAACATAGCGGGCCTGAAAATAACCAGTGTTCCCTCCACCCTTTCCAAATCAGCTTCCGCCAGCTGGGTTGGGATCACTGGATCATTGCTCCCCCTTTCTACACCCCAAACTACTGTAAAGGAACTTGTCTCCGAGTACTACGCGATGGTCTCAATTCCCCCAATCACGCCATTATTCAGAACCTTATCAATCAGTTGGTGGACCAGAGTGTCCCCCGGCCCTCCTGTGTCCCGTATAAGTATGTTCCAATTAGTGTCCTTATGATTGAGGCAAATGGGAGTATTTTGTACAAGGAGTATGAGGGTATGATTGCTGAGTCTTGTACATGCAGATGACAGCAACAGTACGGCTAGATCAGGTTTCCCAGGAAACTGGAGGAGAGTTTAAAATATCAGTGTTAAAGCTGCAAGTAATCCTGTACCAATCTGTAGGTTATATTTCTTGCCTTAAGTGTTACTTAAGTCTCTTCCCCCACTTGTGAGCTAGTCAGTTTATAGAAACAGTTCTGATACCAGTCCCCTAGCATGAATCAGTACAGTTTGACCACTAATCAGAGCCCTTAATGCTTGGGTAAAATGTCCTCTATTTTACTTTCCTTGGGGCTTTGTCAAAAGTCAGCAGTCAGTAGTGGTAGAACTTCAGAAATTTTCCAACTTTTCCCAGCCTGGGAAAGGTGGGTGTCCATATTTTCCTAGTGTCCATATTCTGACGCTCTATAAGATTTGGGGTGGTGAAAATAGCTTGGGATTTTATACTCCTCTTCTTGCCTCCTATGTCCTGGAAACTACTAGTAGCTAATCAGATAAATTGCCTGCTTCTGTGTTAGTATTACCTTCTAAAACTTTTCTCAGACTGGAAATTTTTCAGGTAACAGTCTTTATAGAAATCTTTTGAGGGACTAGAAGGAAGGAAATGTTTTTCTAAACCAGCAGGGCTTTTCCTCTTAGCCTCTGAATCTGGGAAAAGTATCTGGGATTATTTCCTGTCCTAGGTGAGTACAGTAGCATTTAATGAAGCCCATAAGGAAACTAGAGTATGGAGCTGTCTGAGATAATCTACTTCAAACCTGCATTTATGGTGAAGAAGAGAAAACCTGTCATTGCTGATTAGTATTATGAATGGGGGAGTTATTTTAAGTATTCTATGGAACAATAGAGTTCAGAGTATTTTCCTTATGTGACACTTAAACCCCTGTAAATTATCCTACAAAGTTCCTTGGTGGCTCCGAGGCTAGGAGTTGGCCTGATTGGGGGTGCAGGGGATTAGAGGGCTGTGAAGGAAGGACTACAGAATAAGGGTGAAACCTGCCAAGGCCTGGAGCTGACTTTATTCTGGGCTTGCCTGTTTCTTGTGTTCAGTTTGGATCTGGACCGGGGTCTCTAAGGGAGAAGGGCTTGTTGTCTTTGGGAGACATGGAACGATGCCTTGAAATAAATGATGCTTGCAGTGTGACTCCTTTCTACTCCTATACTGTATTTAAATGACGGGACTGGGTTTTGTTGCAAATAAATCATTTCACTGTTGAAGAAAATCTTGACTGTTTTTAGAATTGGGAGAGATTGGAAGGAATTTATTTCCTTTGTTCCCTTTAGCTATGGCTAGGAATTCAACCCTAATCCCTGAGGGGCAGGGCTGGAGCGTCCTCTGAAGTTCTTCTCTCTTAAGGAAACACTGCTAGCCATCAGCCCTCGCCAAGGTGCCCCTTTAGGGAAGCCCCTAAGGGGCCAGTAAGTCTTTCCCTGCCCAATTGCTCTTGACTAGTCTTATGGCAATTCTCATGGGATGGGACTGATTTAGGGTAGGTATGTGTGTTTGTCAAATCCCTACGTTTCTTACCTATTCATTGTAAACTAACTCCTTTTACCACTCCCTTCAAAAGCTGGTTCCAACTAGGCTGAATATCTTGCAAGTGTATAAATGCAAATTTTATTCTTGTGACTGAGGAGCTATTCCTTAACATCAGTTTGCCTGTCTACCTTCTT
|
benign
| 334,401 |
Benign or pathogenic: chromosome X, position 53194975, gene KDM5C (lysine demethylase 5C) variant? Disease(s) if pathogenic?
|
pathogenic; ['Inborn_genetic_diseases', 'Rare_genetic_intellectual_disability', 'Spastic_paraplegia', 'Syndromic_X-linked_intellectual_disability_Claes-Jensen_type']
|
GGGGGGTCTCTGTCAGGGTCTGTGCTAGGCTCAGCCACTGTCACAACTGTTGCTGAGGCGGCTGCTGTGGGCAGGGCAGATGCAGCCGGGGAGTCAGAGTGGAGAAAGGGGCCGAGGGGCCTGAAGTGGTCCCTTCCGCCGGTTCCAAGCCATTCTGGTTCTCCTGGGTGCTGGGGCTGCCAGTGGTGGGGATGGGTGCAGGGGGGCCCTCACCCCCAGTCTCCTCCTCCAGCTCTTCCTCCTCCTGGACCTCCTCAGCCTCTGGCCCTGAGCTCCGTACCCTCTTTGGCTCTAGCTCCTCTCGGGCTGGGTCATCGCCCTCCCCACCCCGATCCACCTTCCGCCGCCGCCGCCTCTCCAGGGCCCGGCCCCGAGCCCGACTCCCGTGACGCTCTGCCTTCTCCAGCTGTGATTACAGACAGGCAGAAAGACAGGTTGTGGGCCAGTGGTCAGGCCTGGGCTCCCTACTCGGCCTGACCTCCTGGCCCGGCCCATGACCCCTCTCCTCACCTCCAGAAGTGTGCGGATCCTCTCCAGGTCTGGGGGCTGTCCAGCCTGCAGCAGCTGCCATATGCTGTGGTTCTCATCCAGGGTCACCTCGAGCAGGTCCCCCTCCATCATGAGCTCCTCCAAGGGGGCCCGGGTTGCCTCAGGCAGTTCCAACACAGGGCCAGTCAACTGTGGCAACAGCGAGGACAGCAGCTCCAGATCTAGGAGGTTGCAGGAACAAGCGGCATTAGAGGCTGCCCTTGGTCTTATCCCCACCACTACAACAGAGCTGAGGACTACATGGGTCACTATGGTGATGTGCAGTCAACAGCCTACCCACACCACACCTAGACCTACCTCTCTTACCTGAGCCCTCCTCCGGGGCTACCTTCTCAGGACTGGTCACACTGTCTCCATTCTCCAGTAAGCCCTGGACCTGCGGAGGAGAGCAAGAATAGGTAGGGGCAACTGAAGTGAAGAACCAGGCCCTATTCCTCCTCCGCCAACCCCAAACTTGAGACCCTCCGCCTTCTGGAGGAGGAGGGAAGACACAGGCTGCCAGCAGGGAGCAGAGTCTAGGAATCTGGACAGATGCAGAATGGAGTAGGAAGGCTGGTCCAAAGAAAACTGAAAATTGGAGAACAAGGGGCAGGGCCGAGCCTAAACTGGGGTAGGGGCTAGGAGACAAGAATCTGAGGACAAGAGCTGGGCTGAGTAGCTCACCTTAGGCATATCCTTGCCACTGCCCTCTCTGAGGGGGTCAGAAGCAGGGGCTGCAGGGTAGTTAGGAGGCTCCTCAGGTCTAGGTTCAGCCTGTAGCCGTTGGCGGAGCTCAGCCAGCCGTCCCAAAAGAGCAGTCACATCTTCAGAGGCCAGAGCCTGCCTGGCGCGGCCTTGCCAGCTGATGGCCCTCTCTGTGAGGCACTGCAGGGCCTCGCCCTCGGGCAGCCGCACAGGCAGTCTCTGCAGGGCTACCAGCAGTGCCAGGATGGTCTCCAGGCGCGGGCGCCTTGAGCGCATACACAGTGGACACAGGAATTTGGTGTCCCATTCCCACCAGGCCAGCAGTGGGGATGAGGTGGGATTGGGCCTCGGAGAGCTGAGGAGGCGAGGCACTGACACACACCGCCCATGGAACCAGTCCTGACACAGGTCACACTGCAGAGCTCCCGCCCCAGCCAGCACCTGCCCACACACACAGATAGAGGTTGTAGAGGAGGCCGTGCTCGATGATGCCAGTGGACTGGGCTTGGCCGAATTGGTGCGACGCAGCTGCAGGATACCCTCCTTCTCCTTCTGTTCCCCCTCCTTGAAGGCCACGATCTGCCATACCCAGGACAGGAGCAAAGTGGGTCAGCAGCCTACCCCTTCCCTTCTCTGGGCCCCCCCTTAACACCCCCACTCCCAAACCAGGAGAACTGAGGCTCAGGGGACAAGCGGTCTGCTCATGGCCACCCAGCTCAGACACTCTATCATCACCAAGCCCTTCTCCCCATCTGTGTCGAAGCTCCTTACCACAGAGCCTGGGTCCCTGAGGTCCTGCGCAGACAGCCCCAGCAGCTCTGTGTCAGATTTGTACAACCCCAGCTCCTTCTCCATCCACCGGCTGCGCTTGGTGCTGTCTGAGCCGGCATCTGCACATGGGCAGAGAACCTGGGGCAGGCAGACAAGAGAGGGAATGACTGGGCTTCCCTTACATCCCCCGCCTCCTTCCCTCCCTGGTGCCCCTACAAAACCCATGTTATCTCATGAGCCATCTCACAGAAGCCAGGGCAGGCGTTAAGAGACGCTGTAGGTCAAGGTCCCAGGCCTCACCTCCAGCAGCGTGTAGCAAGAATTTTTCTTGAGGAAGGTCTTGGAGGCCTTCTCCCTCCAGGAGTGCGCTGTCAGTACCTGTAGCTCTAGCTGTCTCAGCTCCTCCAGCCCCACAGGTAGGTCCCGGCCCACAGCTACTAGGCCCTCCAAGTCATCCAGGCAGGGGTAGTGGTCACCATTCTAAGGCCAAGGGCGAGAGACAGCTCAGTTCAACTTGCCAATGCTATTGATGCTTACTCTGTGCCTGGCCCTGAGCTGGAAAGATGAACTGGGCTCAGTCTTGAGGGATTAAAAAAATAGGTGTCATCCTAAGGAACAACCACTTGGCTCTCTCCCACAACACCGGCATCTACTGACTGGCTCAGCCCCAAATATCTAGTCAGCCTTCTGTTGTGGTTTGCCTCTTCTCCTCTCCTCCATGCCCCTGCCCTGCTCAGTCCCATACCACCTGCTTCCCTGGCCCACCAATCTCATCCTAACCAGTGCCCTCTCTTCCTTCAGGCCAGCCTCACACTCTTCCTCTCACCCTGCTCATCAGGCACATCTTGCCTCCTGACTACATGCCATGCCCCCTTCCTCTCTCCAGCCAACCCAACCCATCCCAGCAACCCAGCACATCCCAGTGTATATGCCATCTCTTCCCAGCTGGACTGAAGGCCTGGGGTGGGAGTGGCAGGGTCCTCACTTGGATCTCATCAACATCAGCAATCCAGGCCCGGGCCTTAGCAAGAGCCTCCTTGAGAGCCTGGATGTTGGGCAGGTGAACAGGGATGTTTTCCGCTTCACGGATTATGGCCTCAAGTGTGGCTGGTGGATGCTTCTGCCTAAAGGTAAGGAAAAAAAGAACGCTCAGTCTGATGTGGTCTGCCTGACCAGAAGCCCAGCCTGACCACCAGATATATCTGCATGGGCCCCTTGGGTGTCTGTTATTCCTGCTGTCACTTGGGCCTACTTGCTTGTATTCCACCTAAGGGTAGCTGCCAGTCCCTGCTTCCCCAAGACTGCATGCACCCAACTTCATCCCTTCTGCCACAGCTCTTGCACCTCTGTTTGTCTGCCAGTCTGCTGGCCTGCTAGCAATGCCTACATATACAACCTGTATTGTGTAATCTGTTGCTGCAGTTTGTCAACTGCCCTGTGTGGGGTCTTTCTACCAACATCTGCCCATCTGCCTGTCACTTGTGCTTCTGGGTATGCGCACATTAGCCTGTAGGGCTAGTCTTCTAGATAATCTCTATCTGTCCATTTCTGCTTCTCCATCAGCCTCTCTTTGCCTTTAAGTATACAGAGTTGTTTTTTAAAAAAACGACAAGATAGACAACAAAAGAGGGGAGAGTCAATACAGTAACACAGGAGCGTGATACCTAAGGCCACCCATGGGCATCCTCTTCTGGGTCTCCACTCAACTTTGATGTTTGGAATAGGGCAGGGAAGGGAAGCAGCAGCTGGACCTACCTGGCCTCCAGGCAGAGGTGGGCTTTCTCCTCCCAGCGTTCAGCAATGGTCAGCAGTTCCTGCAGCTCGGCCTGGGCTTTATCCACAGCAGGGCTAGGGGCTACACTGGCACCCGCGACCAACAGTCCTCGCATGACAGCCAAGGTGCCCCTTCGGGCTGAGGGGGCCAGTGTGCGTTTCACCTCATCCAGCCATCGCGCCTGTTCCACCTGCCGCTGGAGCTGCTGGGCCTCAGGCACCTCCACCCCCAGCTGCCGCCCCCTCTCCAACAGGGACTGCAGTAGCCCTGGACTGGAGGGCAGTGAGGCCAGGGCCTCACGAGCCTCAGCCTGGTAGG
|
GGGGGGTCTCTGTCAGGGTCTGTGCTAGGCTCAGCCACTGTCACAACTGTTGCTGAGGCGGCTGCTGTGGGCAGGGCAGATGCAGCCGGGGAGTCAGAGTGGAGAAAGGGGCCGAGGGGCCTGAAGTGGTCCCTTCCGCCGGTTCCAAGCCATTCTGGTTCTCCTGGGTGCTGGGGCTGCCAGTGGTGGGGATGGGTGCAGGGGGGCCCTCACCCCCAGTCTCCTCCTCCAGCTCTTCCTCCTCCTGGACCTCCTCAGCCTCTGGCCCTGAGCTCCGTACCCTCTTTGGCTCTAGCTCCTCTCGGGCTGGGTCATCGCCCTCCCCACCCCGATCCACCTTCCGCCGCCGCCGCCTCTCCAGGGCCCGGCCCCGAGCCCGACTCCCGTGACGCTCTGCCTTCTCCAGCTGTGATTACAGACAGGCAGAAAGACAGGTTGTGGGCCAGTGGTCAGGCCTGGGCTCCCTACTCGGCCTGACCTCCTGGCCCGGCCCATGACCCCTCTCCTCACCTCCAGAAGTGTGCGGATCCTCTCCAGGTCTGGGGGCTGTCCAGCCTGCAGCAGCTGCCATATGCTGTGGTTCTCATCCAGGGTCACCTCGAGCAGGTCCCCCTCCATCATGAGCTCCTCCAAGGGGGCCCGGGTTGCCTCAGGCAGTTCCAACACAGGGCCAGTCAACTGTGGCAACAGCGAGGACAGCAGCTCCAGATCTAGGAGGTTGCAGGAACAAGCGGCATTAGAGGCTGCCCTTGGTCTTATCCCCACCACTACAACAGAGCTGAGGACTACATGGGTCACTATGGTGATGTGCAGTCAACAGCCTACCCACACCACACCTAGACCTACCTCTCTTACCTGAGCCCTCCTCCGGGGCTACCTTCTCAGGACTGGTCACACTGTCTCCATTCTCCAGTAAGCCCTGGACCTGCGGAGGAGAGCAAGAATAGGTAGGGGCAACTGAAGTGAAGAACCAGGCCCTATTCCTCCTCCGCCAACCCCAAACTTGAGACCCTCCGCCTTCTGGAGGAGGAGGGAAGACACAGGCTGCCAGCAGGGAGCAGAGTCTAGGAATCTGGACAGATGCAGAATGGAGTAGGAAGGCTGGTCCAAAGAAAACTGAAAATTGGAGAACAAGGGGCAGGGCCGAGCCTAAACTGGGGTAGGGGCTAGGAGACAAGAATCTGAGGACAAGAGCTGGGCTGAGTAGCTCACCTTAGGCATATCCTTGCCACTGCCCTCTCTGAGGGGGTCAGAAGCAGGGGCTGCAGGGTAGTTAGGAGGCTCCTCAGGTCTAGGTTCAGCCTGTAGCCGTTGGCGGAGCTCAGCCAGCCGTCCCAAAAGAGCAGTCACATCTTCAGAGGCCAGAGCCTGCCTGGCGCGGCCTTGCCAGCTGATGGCCCTCTCTGTGAGGCACTGCAGGGCCTCGCCCTCGGGCAGCCGCACAGGCAGTCTCTGCAGGGCTACCAGCAGTGCCAGGATGGTCTCCAGGCGCGGGCGCCTTGAGCGCATACACAGTGGACACAGGAATTTGGTGTCCCATTCCCACCAGGCCAGCAGTGGGGATGAGGTGGGATTGGGCCTCGGAGAGCTGAGGAGGCGAGGCACTGACACACACCGCCCATGGAACCAGTCCTGACACAGGTCACACTGCAGAGCTCCCGCCCCAGCCAGCACCTGCCCACACACACAGATAGAGGTTGTAGAGGAGGCCGTGCTCGATGATGCCAGTGGACTGGGCTTGGCCGAATTGGTGCGACGCAGCTGCAGGATACCCTCCTTCTCCTTCTGTTCCCCCTCCTTGAAGGCCACGATCTGCCATACCCAGGACAGGAGCAAAGTGGGTCAGCAGCCTACCCCTTCCCTTCTCTGGGCCCCCCCTTAACACCCCCACTCCCAAACCAGGAGAACTGAGGCTCAGGGGACAAGCGGTCTGCTCATGGCCACCCAGCTCAGACACTCTATCATCACCAAGCCCTTCTCCCCATCTGTGTCGAAGCTCCTTACCACAGAGCCTGGGTCCCTGAGGTCCTGCGCAGACAGCCCCAGCAGCTGTGTCAGATTTGTACAACCCCAGCTCCTTCTCCATCCACCGGCTGCGCTTGGTGCTGTCTGAGCCGGCATCTGCACATGGGCAGAGAACCTGGGGCAGGCAGACAAGAGAGGGAATGACTGGGCTTCCCTTACATCCCCCGCCTCCTTCCCTCCCTGGTGCCCCTACAAAACCCATGTTATCTCATGAGCCATCTCACAGAAGCCAGGGCAGGCGTTAAGAGACGCTGTAGGTCAAGGTCCCAGGCCTCACCTCCAGCAGCGTGTAGCAAGAATTTTTCTTGAGGAAGGTCTTGGAGGCCTTCTCCCTCCAGGAGTGCGCTGTCAGTACCTGTAGCTCTAGCTGTCTCAGCTCCTCCAGCCCCACAGGTAGGTCCCGGCCCACAGCTACTAGGCCCTCCAAGTCATCCAGGCAGGGGTAGTGGTCACCATTCTAAGGCCAAGGGCGAGAGACAGCTCAGTTCAACTTGCCAATGCTATTGATGCTTACTCTGTGCCTGGCCCTGAGCTGGAAAGATGAACTGGGCTCAGTCTTGAGGGATTAAAAAAATAGGTGTCATCCTAAGGAACAACCACTTGGCTCTCTCCCACAACACCGGCATCTACTGACTGGCTCAGCCCCAAATATCTAGTCAGCCTTCTGTTGTGGTTTGCCTCTTCTCCTCTCCTCCATGCCCCTGCCCTGCTCAGTCCCATACCACCTGCTTCCCTGGCCCACCAATCTCATCCTAACCAGTGCCCTCTCTTCCTTCAGGCCAGCCTCACACTCTTCCTCTCACCCTGCTCATCAGGCACATCTTGCCTCCTGACTACATGCCATGCCCCCTTCCTCTCTCCAGCCAACCCAACCCATCCCAGCAACCCAGCACATCCCAGTGTATATGCCATCTCTTCCCAGCTGGACTGAAGGCCTGGGGTGGGAGTGGCAGGGTCCTCACTTGGATCTCATCAACATCAGCAATCCAGGCCCGGGCCTTAGCAAGAGCCTCCTTGAGAGCCTGGATGTTGGGCAGGTGAACAGGGATGTTTTCCGCTTCACGGATTATGGCCTCAAGTGTGGCTGGTGGATGCTTCTGCCTAAAGGTAAGGAAAAAAAGAACGCTCAGTCTGATGTGGTCTGCCTGACCAGAAGCCCAGCCTGACCACCAGATATATCTGCATGGGCCCCTTGGGTGTCTGTTATTCCTGCTGTCACTTGGGCCTACTTGCTTGTATTCCACCTAAGGGTAGCTGCCAGTCCCTGCTTCCCCAAGACTGCATGCACCCAACTTCATCCCTTCTGCCACAGCTCTTGCACCTCTGTTTGTCTGCCAGTCTGCTGGCCTGCTAGCAATGCCTACATATACAACCTGTATTGTGTAATCTGTTGCTGCAGTTTGTCAACTGCCCTGTGTGGGGTCTTTCTACCAACATCTGCCCATCTGCCTGTCACTTGTGCTTCTGGGTATGCGCACATTAGCCTGTAGGGCTAGTCTTCTAGATAATCTCTATCTGTCCATTTCTGCTTCTCCATCAGCCTCTCTTTGCCTTTAAGTATACAGAGTTGTTTTTTAAAAAAACGACAAGATAGACAACAAAAGAGGGGAGAGTCAATACAGTAACACAGGAGCGTGATACCTAAGGCCACCCATGGGCATCCTCTTCTGGGTCTCCACTCAACTTTGATGTTTGGAATAGGGCAGGGAAGGGAAGCAGCAGCTGGACCTACCTGGCCTCCAGGCAGAGGTGGGCTTTCTCCTCCCAGCGTTCAGCAATGGTCAGCAGTTCCTGCAGCTCGGCCTGGGCTTTATCCACAGCAGGGCTAGGGGCTACACTGGCACCCGCGACCAACAGTCCTCGCATGACAGCCAAGGTGCCCCTTCGGGCTGAGGGGGCCAGTGTGCGTTTCACCTCATCCAGCCATCGCGCCTGTTCCACCTGCCGCTGGAGCTGCTGGGCCTCAGGCACCTCCACCCCCAGCTGCCGCCCCCTCTCCAACAGGGACTGCAGTAGCCCTGGACTGGAGGGCAGTGAGGCCAGGGCCTCACGAGCCTCAGCCTGGTAGGNN
|
pathogenic
| 334,436 |
The mutation impacting KDM5C (lysine demethylase 5C) on chromosome X at position 53197882: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
benign
|
AGCAACCCAGCACATCCCAGTGTATATGCCATCTCTTCCCAGCTGGACTGAAGGCCTGGGGTGGGAGTGGCAGGGTCCTCACTTGGATCTCATCAACATCAGCAATCCAGGCCCGGGCCTTAGCAAGAGCCTCCTTGAGAGCCTGGATGTTGGGCAGGTGAACAGGGATGTTTTCCGCTTCACGGATTATGGCCTCAAGTGTGGCTGGTGGATGCTTCTGCCTAAAGGTAAGGAAAAAAAGAACGCTCAGTCTGATGTGGTCTGCCTGACCAGAAGCCCAGCCTGACCACCAGATATATCTGCATGGGCCCCTTGGGTGTCTGTTATTCCTGCTGTCACTTGGGCCTACTTGCTTGTATTCCACCTAAGGGTAGCTGCCAGTCCCTGCTTCCCCAAGACTGCATGCACCCAACTTCATCCCTTCTGCCACAGCTCTTGCACCTCTGTTTGTCTGCCAGTCTGCTGGCCTGCTAGCAATGCCTACATATACAACCTGTATTGTGTAATCTGTTGCTGCAGTTTGTCAACTGCCCTGTGTGGGGTCTTTCTACCAACATCTGCCCATCTGCCTGTCACTTGTGCTTCTGGGTATGCGCACATTAGCCTGTAGGGCTAGTCTTCTAGATAATCTCTATCTGTCCATTTCTGCTTCTCCATCAGCCTCTCTTTGCCTTTAAGTATACAGAGTTGTTTTTTAAAAAAACGACAAGATAGACAACAAAAGAGGGGAGAGTCAATACAGTAACACAGGAGCGTGATACCTAAGGCCACCCATGGGCATCCTCTTCTGGGTCTCCACTCAACTTTGATGTTTGGAATAGGGCAGGGAAGGGAAGCAGCAGCTGGACCTACCTGGCCTCCAGGCAGAGGTGGGCTTTCTCCTCCCAGCGTTCAGCAATGGTCAGCAGTTCCTGCAGCTCGGCCTGGGCTTTATCCACAGCAGGGCTAGGGGCTACACTGGCACCCGCGACCAACAGTCCTCGCATGACAGCCAAGGTGCCCCTTCGGGCTGAGGGGGCCAGTGTGCGTTTCACCTCATCCAGCCATCGCGCCTGTTCCACCTGCCGCTGGAGCTGCTGGGCCTCAGGCACCTCCACCCCCAGCTGCCGCCCCCTCTCCAACAGGGACTGCAGTAGCCCTGGACTGGAGGGCAGTGAGGCCAGGGCCTCACGAGCCTCAGCCTGGTAGGCCTCCACCTGTTCCAGAACACCCTACCAGGACACAGGATGAAGAACAAACTCCTCAGCTGGGCCCACTGAGGGGTTCCACCACCAGATGGAACCTTGTCCCACCTATCTTCTTACCCTCCAAGCTTTTGGGGCAAAGGAGCCTAACATGGGCTGAGCTCTCCTTCTCCAAGCCCTAAGACAGTTGGGGTTCCTAACACTGACTGCTCATTAGAATGCCCTGGGGAATTTAAGAATGCAGATTCCTGGGCCCCACCCTGAGAGATTCTTAATTAACTAATAATTATTAATCTATGCTTTATTTAACTTTTCAGAGGGCTCTGTTCTCAGGGCACCAAGAGACCTCCCTGCCCTAAAAATTGCTATGATTAGTCCTCACATAAACCCTTGTGCTCACCACCCTGGGGTCTGTTGCCCTCTCCATCTCACTCCTCCTCCACCTTCATGAATTTCCCTCCACTTTCCAAGCCCAACAAGCACCCCTGTTACCTCCTTCTCCTCTACCCCTCCTCCAGGAAACCTTACCTGGACTCTGTATCCTATACCCATACCCTTGCCACCTGACCCTCAAGGCCCATTTCTAACAGACAAGTCACTAGACCCTTGCCTCACCCCTCCCACCTGTTCTTTTCTCACACGTGTGTCCTGTCTTGCCTGAACACTTTAAGCTTTTGAAAGGAGCCAAGCATGGCCTGCTGCTCAGGTCCCCTGGTCCCCTTGATCCCTCATCAGCACTCCAAGCGTCCTCACCTTGACATCCCCAATCTGGTGCATGGCGCAAGGCAGGTTGTTCATCTGGTCCAGAAAGGCCCGGAGCTCAGTCAGGGTCATCTGTAGACCAGCCACCCTGTGGGGGCTATGAAGTATCACATGTGAGGTTTCAGGTCCAAACTCAGTGCCTTCCCTCCATGTCTATGCTAAGACTGAACACCTTTCCTCACTACACCTGTCCACCTTGATCTCGCATATTTCAAATTTGCCCCAATTGCCCAGGTTAGAGGGAAGGTTTTAAATTATAGAGCATGTTCATATTATGAGGGGAAAGAATTAGAAACTAATGGGTTGTAATAAGAGCTACACTTTGCAATCCATCCTCTACTGTGAACTCTAAAGCTGTGTTAGCAGGGATCAGGTCTATACATCTTTGTCCTGTTCTTACCCGTAAGCCTCCCACAACTCTTCCCTGCCCACAAAACCCCTCAGCCTCTCTCTCAGGCCACTTCCAGGTACTGATAAAAAATAAACACTTCTAGCTTTCTTATCACAGAGGCTCTCCTCTCCTTTTTAGGTGGCCTGGTCTCCTTGTCCCCCCCAACACCTTCCAGGCCATCTCACACTCTTGTGCCTGGCAGCTTCCTGCTGATGTCCATTCTGCCAAATGGTATTCACAGTCTACCCCTTGCAGCACTTTTCCTCGGTGCTGGATCCTCAGCACCTTATGTGTGCCCTAACTCCTCACGCTGTCATACCCAGCTTCCTGGCCGCTGACCAGTCCCAGAGCTCGGGACACGCAAGCCTCTGCCTCACTCAGGCAGTTCTTTAGTTGCTGCAGCAGCTCACTATTAGGAAACCTCCGCTCACGGGCTTCAGACTCTAGTGCCCTCAGTTCTTCAAGGCCTGGAAGAAAAATGAGGGCAGCAAAGAGTAGGCAGTATTGAATAGAGGCAGAGGAAGGGGGTCAGAGTACAGAAGAAAGGGAATAGAACTTGCCTGTGGAGTCCCTCCATCCCCCCCATCACTCACTGCGCTTCCGCCCATCCTCCACCTCCAGGGCCACTCGCACTTTGTTGGCCCAGGTGTCAAAGGACTCAGCCCGAACCTTCAGCTTATGCAGCATGGCAGGAAGCTCATCCAAGGTATACCGATACCTGGAGGAAGAGGGCAGGCAAGAGCATGTCTGGCCCAGCTCTCCATCCTCCTTCTTGCCCCACTTCCTCCAGAAAGGCCCATGCTCACCGCAGGTACTGCCGGCTACTGGAGCACTTGCAGAGATCATTGATGTGGGAAAGGCAGACAAGGCCGTCTGGGCAGTCGTAGCAGGCCAGGGCTGACAGGAAACACGTAGTCTTGCACTTGATACACTGGCGCTCATCATCTGGGAGCAGCTCGAAAGCCTCTCGCTCAGCCTCTGTGATACCCTAAGGGCATTTAACCTATGCGTTATATATAACCAGAACCAGGTAGCAAAATCCTCCATCTCAGCCACCACCGACCCCTACTTTAGATTCAAATCTATGCTGAGGGTCATGGGGTTTAAGAGGCCAAACCCCAGGGAGCATACCTGCCCTTTGTAAAGTCTAGACTCTCAAAGCTTGGGGAATCAGATAAACCAGGGCAAGATCAGTGTGCGCTGAGTCAGATAATTTTATAGAGGAAGAAAAATCAGGTAAGATCCAGATCAGCAGAAAGGGTCTTGTGGGTGAGAAGTGAGGAAAGTGGTGGACCAAGATACCAGAGAGGTGGCAATGAGTGCAAGTGGCCAAGGGACAGGCCTGGCTAGTTATGTGTACTGGGGAACAATATCGGCTTCCAGTTACTCAGAGCCCACTGTGTTCCAGGCACCACGCTGGCCACTTAGTAGGCAGGAGATACTTGTGCACATATATAACTTAGAGAAATTCAACCGTATGTGCTTGTGTTCAGGGTTTAAAGAGATATAATAATTTTCTCCCAACAATATGGTTTCCAAACCTAATCCAATGACTTCATCTGTTGCTCAGATAAAGAAAAAGCAATCCATTTCAAAAATGAAGGAAAAGCTGGCTATATTGGAGTAATCGAGAGACAACCCAGTGTGTATATCTAATGGGCAATTTTAGGGATTTTAATGGGAAATGTCAACTCTTAACAGTTTTTGTCTTACATACCAACTTTAACACCTAATCTCTGCATAAGTTATGAGCCCAAAT
|
AGCAACCCAGCACATCCCAGTGTATATGCCATCTCTTCCCAGCTGGACTGAAGGCCTGGGGTGGGAGTGGCAGGGTCCTCACTTGGATCTCATCAACATCAGCAATCCAGGCCCGGGCCTTAGCAAGAGCCTCCTTGAGAGCCTGGATGTTGGGCAGGTGAACAGGGATGTTTTCCGCTTCACGGATTATGGCCTCAAGTGTGGCTGGTGGATGCTTCTGCCTAAAGGTAAGGAAAAAAAGAACGCTCAGTCTGATGTGGTCTGCCTGACCAGAAGCCCAGCCTGACCACCAGATATATCTGCATGGGCCCCTTGGGTGTCTGTTATTCCTGCTGTCACTTGGGCCTACTTGCTTGTATTCCACCTAAGGGTAGCTGCCAGTCCCTGCTTCCCCAAGACTGCATGCACCCAACTTCATCCCTTCTGCCACAGCTCTTGCACCTCTGTTTGTCTGCCAGTCTGCTGGCCTGCTAGCAATGCCTACATATACAACCTGTATTGTGTAATCTGTTGCTGCAGTTTGTCAACTGCCCTGTGTGGGGTCTTTCTACCAACATCTGCCCATCTGCCTGTCACTTGTGCTTCTGGGTATGCGCACATTAGCCTGTAGGGCTAGTCTTCTAGATAATCTCTATCTGTCCATTTCTGCTTCTCCATCAGCCTCTCTTTGCCTTTAAGTATACAGAGTTGTTTTTTAAAAAAACGACAAGATAGACAACAAAAGAGGGGAGAGTCAATACAGTAACACAGGAGCGTGATACCTAAGGCCACCCATGGGCATCCTCTTCTGGGTCTCCACTCAACTTTGATGTTTGGAATAGGGCAGGGAAGGGAAGCAGCAGCTGGACCTACCTGGCCTCCAGGCAGAGGTGGGCTTTCTCCTCCCAGCGTTCAGCAATGGTCAGCAGTTCCTGCAGCTCGGCCTGGGCTTTATCCACAGCAGGGCTAGGGGCTACACTGGCACCCGCGACCAACAGTCCTCGCATGACAGCCAAGGTGCCCCTTCGGGCTGAGGGGGCCAGTGTGCGTTTCACCTCATCCAGCCATCGCGCCTGTTCCACCTGCCGCTGGAGCTGCTGGGCCTCAGGCACCTCCACCCCCAGCTGCCGCCCCCTCTCCAACAGGGACTGCAGTAGCCCTGGACTGGAGGGCAGTGAGGCCAGGGCCTCACGAGCCTCAGCCTGGTAGGCCTCCACCTGTTCCAGAACACCCTACCAGGACACAGGATGAAGAACAAACTCCTCAGCTGGGCCCACTGAGGGGTTCCACCACCAGATGGAACCTTGTCCCACCTATCTTCTTACCCTCCAAGCTTTTGGGGCAAAGGAGCCTAACATGGGCTGAGCTCTCCTTCTCCAAGCCCTAAGACAGTTGGGGTTCCTAACACTGACTGCTCATTAGAATGCCCTGGGGAATTTAAGAATGCAGATTCCTGGGCCCCACCCTGAGAGATTCTTAATTAACTAATAATTATTAATCTATGCTTTATTTAACTTTTCAGAGGGCTCTGTTCTCAGGGCACCAAGAGACCTCCCTGCCCTAAAAATTGCTATGATTAGTCCTCACATAAACCCTTGTGCTCACCACCCTGGGGTCTGTTGCCCTCTCCATCTCACTCCTCCTCCACCTTCATGAATTTCCCTCCACTTTCCAAGCCCAACAAGCACCCCTGTTACCTCCTTCTCCTCTACCCCTCCTCCAGGAAACCTTACCTGGACTCTGTATCCTATACCCATACCCTTGCCACCTGACCCTCAAGGCCCATTTCTAACAGACAAGTCACTAGACCCTTGCCTCACCCCTCCCACCTGTTCTTTTCTCACACGTGTGTCCTGTCTTGCCTGAACACTTTAAGCTTTTGAAAGGAGCCAAGCATGGCCTGCTGCTCAGGTCCCCTGGTCCCCTTGATCCCTCATCAGCACTCCAAGCGTCCTCACCTTGACATCCCCAATCTGGTGCATGGCGCAAGGCAGGTTGTTCATCTGGTCCAGAAAGGCCCGGAGCTCAGTCAGGGTCATCTGTAGACCAGCCACCCTGTGGGGGCTATGAAGTAGTATCACATGTGAGGTTTCAGGTCCAAACTCAGTGCCTTCCCTCCATGTCTATGCTAAGACTGAACACCTTTCCTCACTACACCTGTCCACCTTGATCTCGCATATTTCAAATTTGCCCCAATTGCCCAGGTTAGAGGGAAGGTTTTAAATTATAGAGCATGTTCATATTATGAGGGGAAAGAATTAGAAACTAATGGGTTGTAATAAGAGCTACACTTTGCAATCCATCCTCTACTGTGAACTCTAAAGCTGTGTTAGCAGGGATCAGGTCTATACATCTTTGTCCTGTTCTTACCCGTAAGCCTCCCACAACTCTTCCCTGCCCACAAAACCCCTCAGCCTCTCTCTCAGGCCACTTCCAGGTACTGATAAAAAATAAACACTTCTAGCTTTCTTATCACAGAGGCTCTCCTCTCCTTTTTAGGTGGCCTGGTCTCCTTGTCCCCCCCAACACCTTCCAGGCCATCTCACACTCTTGTGCCTGGCAGCTTCCTGCTGATGTCCATTCTGCCAAATGGTATTCACAGTCTACCCCTTGCAGCACTTTTCCTCGGTGCTGGATCCTCAGCACCTTATGTGTGCCCTAACTCCTCACGCTGTCATACCCAGCTTCCTGGCCGCTGACCAGTCCCAGAGCTCGGGACACGCAAGCCTCTGCCTCACTCAGGCAGTTCTTTAGTTGCTGCAGCAGCTCACTATTAGGAAACCTCCGCTCACGGGCTTCAGACTCTAGTGCCCTCAGTTCTTCAAGGCCTGGAAGAAAAATGAGGGCAGCAAAGAGTAGGCAGTATTGAATAGAGGCAGAGGAAGGGGGTCAGAGTACAGAAGAAAGGGAATAGAACTTGCCTGTGGAGTCCCTCCATCCCCCCCATCACTCACTGCGCTTCCGCCCATCCTCCACCTCCAGGGCCACTCGCACTTTGTTGGCCCAGGTGTCAAAGGACTCAGCCCGAACCTTCAGCTTATGCAGCATGGCAGGAAGCTCATCCAAGGTATACCGATACCTGGAGGAAGAGGGCAGGCAAGAGCATGTCTGGCCCAGCTCTCCATCCTCCTTCTTGCCCCACTTCCTCCAGAAAGGCCCATGCTCACCGCAGGTACTGCCGGCTACTGGAGCACTTGCAGAGATCATTGATGTGGGAAAGGCAGACAAGGCCGTCTGGGCAGTCGTAGCAGGCCAGGGCTGACAGGAAACACGTAGTCTTGCACTTGATACACTGGCGCTCATCATCTGGGAGCAGCTCGAAAGCCTCTCGCTCAGCCTCTGTGATACCCTAAGGGCATTTAACCTATGCGTTATATATAACCAGAACCAGGTAGCAAAATCCTCCATCTCAGCCACCACCGACCCCTACTTTAGATTCAAATCTATGCTGAGGGTCATGGGGTTTAAGAGGCCAAACCCCAGGGAGCATACCTGCCCTTTGTAAAGTCTAGACTCTCAAAGCTTGGGGAATCAGATAAACCAGGGCAAGATCAGTGTGCGCTGAGTCAGATAATTTTATAGAGGAAGAAAAATCAGGTAAGATCCAGATCAGCAGAAAGGGTCTTGTGGGTGAGAAGTGAGGAAAGTGGTGGACCAAGATACCAGAGAGGTGGCAATGAGTGCAAGTGGCCAAGGGACAGGCCTGGCTAGTTATGTGTACTGGGGAACAATATCGGCTTCCAGTTACTCAGAGCCCACTGTGTTCCAGGCACCACGCTGGCCACTTAGTAGGCAGGAGATACTTGTGCACATATATAACTTAGAGAAATTCAACCGTATGTGCTTGTGTTCAGGGTTTAAAGAGATATAATAATTTTCTCCCAACAATATGGTTTCCAAACCTAATCCAATGACTTCATCTGTTGCTCAGATAAAGAAAAAGCAATCCATTTCAAAAATGAAGGAAAAGCTGGCTATATTGGAGTAATCGAGAGACAACCCAGTGTGTATATCTAATGGGCAATTTTAGGGATTTTAATGGGAAATGTCAACTCTTAACAGTTTTTGTCTTACATACCAACTTTAACACCTAATCTCTGCATAAGTTATGAGCCCA
|
benign
| 334,450 |
A mutation at chromosome position 53214835 on chromosome X in gene KDM5C (lysine demethylase 5C): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Spastic_paraplegia', 'Syndromic_X-linked_intellectual_disability_Claes-Jensen_type']
|
GGTCAGGAGTTCGAGACCAGCCTGGCCACCATGGTGAAACCCTGTCTCTACTAGAACTACAAAAACTAGCCAGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCAGAGATGGCATCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCTGTCGCAAGAAAAGAAAAAGAAAAAAGAAAGATGGAAAATGAAGACACTGGCTTTTACAGTATCAAACCCTCCACTAATCCTGTTCTTGAGACTGTCTCAGAAGATAGGATGTGGGTCTACCTCATTTTGTACCTATGTTCATTATTTTAGATGAGAACAATATGTACCCCAAAATCAGACACACACCATGCTTATGTTTGAAAAATAAATGTCCGTCTGGTCCACTGACTTATAACCACTTAGAGAAGAGAGTCAAGTAGAGTCGACAGTCTTGATACTGTTGGTATCCAAACTCCTCCCCAACTAGAATCTCCACCACTACCAAGGCCAATATGCACTGCCCTGATTTTTCCTCATCTGTGTATGTCTGTCTGTGTGTATGTATGCATGTGCACACCCGGTCTCTACAACCACAGTTGAGTCCCTAAGATAAGGCGAATGTCTGCTCTACAGAAATCCAGAGGGAAATGTAGAAGGTAAGTACCGAGAATTTGGGTGAAGGTAGGAAGTTCATGAAATGTACCTGCCCAACTTCCTGGCTGCTTGGCCCTTACTGCTGCTTCAGCTGCTCTCCTTACTGCCCCTATACCCATAGTAGGCATGCTCTCCTGCTATACCTCTGTTCCTGCTAGTCCTCCACCTCCCAGTCCTGAACAGCCAACCACCTCTCTAGTTAAAGCCTGTAGCACTGCCTCAATCTAAATATAACAAGAGGAAAACAACTAAATAAATATTATACCCATGATACACCATCTAAAAAAATTCCAGACCTTAATTAAACTTAGTAATATAGAGAAATGGTTATAAAGCAACAAATGAAAATATATAACAAGATCTCAAACTTGTTAAAGATAGTTACATATAAGTAACAGCAAAAAGATGAGAAAAAAATATATCAAACTATTAACAATGGTTATCACTGGGTGGTGGGAACACAAGTAATTTGCCTATTTTCCAAAATGTCTTTTTTTTTTTTGAAGACAGGGTCTCATTTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATTTTGGCACACTGCAACCTCCGCCTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCCGAGCAGCTGGGACAACAGGCGTGCGCCACCATGCCTGGCTAATTTTTGTATCTTTTTTGGTAGAGACGGGGTTTCGCCATGTTGCCCAGGCTGGTCTCAAACTTCTGGGCTCAAACGATCCGCCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCAAACTTTCTAAAAAAGAAAAAAAAAAACAAAACAAAAACTCAGAAATTGAAAGAACATTTTTTTCTTAATATTCCTATCCTTCAAGTCTCATTTCTGACATTTTCCCTGATTATTACCCTTAGCTATTTTCCTCTCCTCTGAACTTCTATATCTCAGAGTTTCTAACACACAATTTAGCCTCTGTTTATATGTCACCACATATAGTCTAATTATGATGCTTACCTCTCCAGGTGGTCTGGGAGCTCTTAGAGGACAGAAGCAAAGGCTGAATCTCCTGCTCCTTTCTCCCAAAGCTCTGCCCAGCCTAATCCCACCACAGAGACCCAAAACCTAAGACTATGGCTGAGCTAAGAGGCTGCCCTCAATAAGGCCAGATGAAGGAAGGCAAGGAAGCCCTATGAGGCAGATGTGGAGTGGGGAGGCCTTACCGCCATGACACACTTTGGGCACCGCCAGACACCCTTGGGGATCTCAGGCAGAGGAGGCAGCAGGCAGAAGATGTGGTAGTTGTCATCACAGCCATCACACAGCAGGAGCTTGTCATCCTCATCCCCTCGAGAACACATCCGGCAGACATATGACTCAATCTGCCAGGGGAGAAGAGCAAAAGTTCTCCATTGGAAATCCACTGTGTTTGCTGGCTGAATGATTTACAGCCCTGTATAGGCTAGTCATGCTAGGTCTGGAGCTCAACTGCACGTATGTACCATCTCCCCAAATAAGCAGGTAGAGCTGCAAGAGCAGTCTTTTATCATCCAGTCTTGAATCCTCCCATTTTTATTCATCCAATAAACACTTACTAAACCCGTATTCAGAACTACGCTGGACTCTAGCACAAAGACAAGACATGGTATCCTTCCAAGTATATACAGTACTCTAGAGACATGTGTTCATAAAAATTAAAAATTGCCAATAGCGGTCCATAAAGGGCACTGTGGGAGCCTAGAGAAGGAAGCACTCAAAGCAGCTGGAGATAAGGAGGGATGGCCTTGAGAAAGGACTTCATTGAAAAGGTAACACCTGAAACTGGCTGAAACCTGAAGGCAAAACAAAACATGGCAACAGGGCAGAGCACAGGGGGAATCTCTTCCAGGCTGAAGAAACAACATGTGCAAAGGATAGGGATGAAAGAGCATACTGCATCTTACGGGGAAAAATGAACATACCTACAAGGAGTTCAGTGTGGCTATAGCAGAGGAGTGAGGTGGGCAGTGCTGGGGGATGAGGCTAGAGGTCAGCAGGGACTGGATCATGCATGGTAATGAGGAGCTTAGCCTTTATCCTGAAGCAATGGAGAGTGAGACTCCTTCTCTGGACCCTTCCAGCACTTCATGTTGACAGCACTTGATCACCCTTTCTTGCTCTTTGTTCCATATGAGTTGGCTTTGTTTCCCCAATTAAGTGAGCTACCTGAGGGCAGGGCCCATGGAGGCCCGCTTTTGTGGTTAATGCGAACTGGTCCAGTGCCATGCAGGGGAATGCTTATTGAAGGGACAAGAAGCAGAGCATTAAGAAGTCAGGGCTGGGTCCTTACAAACTGGGCATTGCTGTGGTTCCTCCGTAGCCTCATGGTCATCTTGGTGCAGGGTTCTGGGCTGTGACTCAGCTCCTCCTTGCTCTCCAGGAAGGTCTTAGGCGATGTTGACTCCACCTTCACATCCCCACCTAACTCCTCCTTCACCACTACTGTGGGGGGACACTCAGGCCCCTCCTTATCTGGGAGAGAGAAAAATGGCTGTAAACACAGGTCTAGGACACTTAGGGCCCTGACTTTTCTCCCCAGGTGAGGCCACCCCAGCCTGTTAGGCCTTACCTTTCTTCCGCAGAGTCTTGTCTTTGGCCATGAGGCCCAGGCCCATCATCTTGGGGCCTGCCCCATAGATCTGTAGCTTTTTCAGCTCTGGATTCTTCTCAATGTCTTCCTCTGTGGGTTCCGGCTGGAAGGAAAGAAGGAAATGAATCAAGACTGCTATCTGGGGCAGACTGTCCCATCCTAAAAGAACAGTAACTCGGACTACATATCACCTGATCTCATGCTGAGGGCTGAGGCACAGATGGGCTAAGCCAAGAACTCAGAGTTGCTTTTTGGAGACTGAGGGTAGGTGAGCTGCCCCCTCGGCCCTCTCTCAGAAAGGAATAAAAGACAGGATATCTCAGTTTTCCCAACTGTAAAATGAGAATATTACCTCCTCCCTTATAGTTATGAGGGGGGTTAGGGACAATACATATGAAAAAGCTAACAGTGTTTGGCATTACCAACAAATGGCAGTCTAATAGGATCTGCTAAATTACATGCTTCGATGAGCCCAGGGACAGTGTCCATCTTGTTCTCTATTGTATTCCCAGTGCCAAGAATGCCTGGCACATAAGCTTCTGCCTGAAGACATAGCTACAAGGAGCTGGGAACAGTGGTACACACCTGTAGTCCTAGCTACTCCAGAGGCTGAGGTGAGAGGATCACTCAAGCCTAGGAGTTCAAGATTATAGTGCATTATGATCAAGCCTGTGAATAGCCACTGTACTCCAGTCTGGGCGACATAGCAAGACCCTATGCCTCAAAACAAAACAAAACAAAAGATACAGGTATAAAGAGAAAGAAGAGTTCTACTTCTATGAGCAGAG
|
GGTCAGGAGTTCGAGACCAGCCTGGCCACCATGGTGAAACCCTGTCTCTACTAGAACTACAAAAACTAGCCAGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCAGAGATGGCATCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCTGTCGCAAGAAAAGAAAAAGAAAAAAGAAAGATGGAAAATGAAGACACTGGCTTTTACAGTATCAAACCCTCCACTAATCCTGTTCTTGAGACTGTCTCAGAAGATAGGATGTGGGTCTACCTCATTTTGTACCTATGTTCATTATTTTAGATGAGAACAATATGTACCCCAAAATCAGACACACACCATGCTTATGTTTGAAAAATAAATGTCCGTCTGGTCCACTGACTTATAACCACTTAGAGAAGAGAGTCAAGTAGAGTCGACAGTCTTGATACTGTTGGTATCCAAACTCCTCCCCAACTAGAATCTCCACCACTACCAAGGCCAATATGCACTGCCCTGATTTTTCCTCATCTGTGTATGTCTGTCTGTGTGTATGTATGCATGTGCACACCCGGTCTCTACAACCACAGTTGAGTCCCTAAGATAAGGCGAATGTCTGCTCTACAGAAATCCAGAGGGAAATGTAGAAGGTAAGTACCGAGAATTTGGGTGAAGGTAGGAAGTTCATGAAATGTACCTGCCCAACTTCCTGGCTGCTTGGCCCTTACTGCTGCTTCAGCTGCTCTCCTTACTGCCCCTATACCCATAGTAGGCATGCTCTCCTGCTATACCTCTGTTCCTGCTAGTCCTCCACCTCCCAGTCCTGAACAGCCAACCACCTCTCTAGTTAAAGCCTGTAGCACTGCCTCAATCTAAATATAACAAGAGGAAAACAACTAAATAAATATTATACCCATGATACACCATCTAAAAAAATTCCAGACCTTAATTAAACTTAGTAATATAGAGAAATGGTTATAAAGCAACAAATGAAAATATATAACAAGATCTCAAACTTGTTAAAGATAGTTACATATAAGTAACAGCAAAAAGATGAGAAAAAAATATATCAAACTATTAACAATGGTTATCACTGGGTGGTGGGAACACAAGTAATTTGCCTATTTTCCAAAATGTCTTTTTTTTTTTTGAAGACAGGGTCTCATTTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATTTTGGCACACTGCAACCTCCGCCTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCCGAGCAGCTGGGACAACAGGCGTGCGCCACCATGCCTGGCTAATTTTTGTATCTTTTTTGGTAGAGACGGGGTTTCGCCATGTTGCCCAGGCTGGTCTCAAACTTCTGGGCTCAAACGATCCGCCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCAAACTTTCTAAAAAAGAAAAAAAAAAACAAAACAAAAACTCAGAAATTGAAAGAACATTTTTTTCTTAATATTCCTATCCTTCAAGTCTCATTTCTGACATTTTCCCTGATTATTACCCTTAGCTATTTTCCTCTCCTCTGAACTTCTATATCTCAGAGTTTCTAACACACAATTTAGCCTCTGTTTATATGTCACCACATATAGTCTAATTATGATGCTTACCTCTCCAGGTGGTCTGGGAGCTCTTAGAGGACAGAAGCAAAGGCTGAATCTCCTGCTCCTTTCTCCCAAAGCTCTGCCCAGCCTAATCCCACCACAGAGACCCAAAACCTAAGACTATGGCTGAGCTAAGAGGCTGCCCTCAATAAGGCCAGATGAAGGAAGGCAAGGAAGCCCTATGAGGCAGATGTGGAGTGGGGAGGCCTTACCGCCATGACACACTTTGGGCACCGCCAGACACCCTTGGGGATCTCAGGCAGAGGAGGCAGCAGGCAGAAGATGTGGTAGTTGTCATCACAGCCATCACACAGCAGGAGCTTGTCATCCTCATCCCCTCGAGAACACATCCGGCAGACATGACTCAATCTGCCAGGGGAGAAGAGCAAAAGTTCTCCATTGGAAATCCACTGTGTTTGCTGGCTGAATGATTTACAGCCCTGTATAGGCTAGTCATGCTAGGTCTGGAGCTCAACTGCACGTATGTACCATCTCCCCAAATAAGCAGGTAGAGCTGCAAGAGCAGTCTTTTATCATCCAGTCTTGAATCCTCCCATTTTTATTCATCCAATAAACACTTACTAAACCCGTATTCAGAACTACGCTGGACTCTAGCACAAAGACAAGACATGGTATCCTTCCAAGTATATACAGTACTCTAGAGACATGTGTTCATAAAAATTAAAAATTGCCAATAGCGGTCCATAAAGGGCACTGTGGGAGCCTAGAGAAGGAAGCACTCAAAGCAGCTGGAGATAAGGAGGGATGGCCTTGAGAAAGGACTTCATTGAAAAGGTAACACCTGAAACTGGCTGAAACCTGAAGGCAAAACAAAACATGGCAACAGGGCAGAGCACAGGGGGAATCTCTTCCAGGCTGAAGAAACAACATGTGCAAAGGATAGGGATGAAAGAGCATACTGCATCTTACGGGGAAAAATGAACATACCTACAAGGAGTTCAGTGTGGCTATAGCAGAGGAGTGAGGTGGGCAGTGCTGGGGGATGAGGCTAGAGGTCAGCAGGGACTGGATCATGCATGGTAATGAGGAGCTTAGCCTTTATCCTGAAGCAATGGAGAGTGAGACTCCTTCTCTGGACCCTTCCAGCACTTCATGTTGACAGCACTTGATCACCCTTTCTTGCTCTTTGTTCCATATGAGTTGGCTTTGTTTCCCCAATTAAGTGAGCTACCTGAGGGCAGGGCCCATGGAGGCCCGCTTTTGTGGTTAATGCGAACTGGTCCAGTGCCATGCAGGGGAATGCTTATTGAAGGGACAAGAAGCAGAGCATTAAGAAGTCAGGGCTGGGTCCTTACAAACTGGGCATTGCTGTGGTTCCTCCGTAGCCTCATGGTCATCTTGGTGCAGGGTTCTGGGCTGTGACTCAGCTCCTCCTTGCTCTCCAGGAAGGTCTTAGGCGATGTTGACTCCACCTTCACATCCCCACCTAACTCCTCCTTCACCACTACTGTGGGGGGACACTCAGGCCCCTCCTTATCTGGGAGAGAGAAAAATGGCTGTAAACACAGGTCTAGGACACTTAGGGCCCTGACTTTTCTCCCCAGGTGAGGCCACCCCAGCCTGTTAGGCCTTACCTTTCTTCCGCAGAGTCTTGTCTTTGGCCATGAGGCCCAGGCCCATCATCTTGGGGCCTGCCCCATAGATCTGTAGCTTTTTCAGCTCTGGATTCTTCTCAATGTCTTCCTCTGTGGGTTCCGGCTGGAAGGAAAGAAGGAAATGAATCAAGACTGCTATCTGGGGCAGACTGTCCCATCCTAAAAGAACAGTAACTCGGACTACATATCACCTGATCTCATGCTGAGGGCTGAGGCACAGATGGGCTAAGCCAAGAACTCAGAGTTGCTTTTTGGAGACTGAGGGTAGGTGAGCTGCCCCCTCGGCCCTCTCTCAGAAAGGAATAAAAGACAGGATATCTCAGTTTTCCCAACTGTAAAATGAGAATATTACCTCCTCCCTTATAGTTATGAGGGGGGTTAGGGACAATACATATGAAAAAGCTAACAGTGTTTGGCATTACCAACAAATGGCAGTCTAATAGGATCTGCTAAATTACATGCTTCGATGAGCCCAGGGACAGTGTCCATCTTGTTCTCTATTGTATTCCCAGTGCCAAGAATGCCTGGCACATAAGCTTCTGCCTGAAGACATAGCTACAAGGAGCTGGGAACAGTGGTACACACCTGTAGTCCTAGCTACTCCAGAGGCTGAGGTGAGAGGATCACTCAAGCCTAGGAGTTCAAGATTATAGTGCATTATGATCAAGCCTGTGAATAGCCACTGTACTCCAGTCTGGGCGACATAGCAAGACCCTATGCCTCAAAACAAAACAAAACAAAAGATACAGGTATAAAGAGAAAGAAGAGTTCTACTTCTATGAGCAGAGNN
|
pathogenic
| 334,474 |
Is chromosome X, position 53215950, gene KDM5C (lysine demethylase 5C) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Syndromic_X-linked_intellectual_disability_Claes-Jensen_type']
|
ACAATGGTTATCACTGGGTGGTGGGAACACAAGTAATTTGCCTATTTTCCAAAATGTCTTTTTTTTTTTTGAAGACAGGGTCTCATTTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATTTTGGCACACTGCAACCTCCGCCTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCCGAGCAGCTGGGACAACAGGCGTGCGCCACCATGCCTGGCTAATTTTTGTATCTTTTTTGGTAGAGACGGGGTTTCGCCATGTTGCCCAGGCTGGTCTCAAACTTCTGGGCTCAAACGATCCGCCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCAAACTTTCTAAAAAAGAAAAAAAAAAACAAAACAAAAACTCAGAAATTGAAAGAACATTTTTTTCTTAATATTCCTATCCTTCAAGTCTCATTTCTGACATTTTCCCTGATTATTACCCTTAGCTATTTTCCTCTCCTCTGAACTTCTATATCTCAGAGTTTCTAACACACAATTTAGCCTCTGTTTATATGTCACCACATATAGTCTAATTATGATGCTTACCTCTCCAGGTGGTCTGGGAGCTCTTAGAGGACAGAAGCAAAGGCTGAATCTCCTGCTCCTTTCTCCCAAAGCTCTGCCCAGCCTAATCCCACCACAGAGACCCAAAACCTAAGACTATGGCTGAGCTAAGAGGCTGCCCTCAATAAGGCCAGATGAAGGAAGGCAAGGAAGCCCTATGAGGCAGATGTGGAGTGGGGAGGCCTTACCGCCATGACACACTTTGGGCACCGCCAGACACCCTTGGGGATCTCAGGCAGAGGAGGCAGCAGGCAGAAGATGTGGTAGTTGTCATCACAGCCATCACACAGCAGGAGCTTGTCATCCTCATCCCCTCGAGAACACATCCGGCAGACATATGACTCAATCTGCCAGGGGAGAAGAGCAAAAGTTCTCCATTGGAAATCCACTGTGTTTGCTGGCTGAATGATTTACAGCCCTGTATAGGCTAGTCATGCTAGGTCTGGAGCTCAACTGCACGTATGTACCATCTCCCCAAATAAGCAGGTAGAGCTGCAAGAGCAGTCTTTTATCATCCAGTCTTGAATCCTCCCATTTTTATTCATCCAATAAACACTTACTAAACCCGTATTCAGAACTACGCTGGACTCTAGCACAAAGACAAGACATGGTATCCTTCCAAGTATATACAGTACTCTAGAGACATGTGTTCATAAAAATTAAAAATTGCCAATAGCGGTCCATAAAGGGCACTGTGGGAGCCTAGAGAAGGAAGCACTCAAAGCAGCTGGAGATAAGGAGGGATGGCCTTGAGAAAGGACTTCATTGAAAAGGTAACACCTGAAACTGGCTGAAACCTGAAGGCAAAACAAAACATGGCAACAGGGCAGAGCACAGGGGGAATCTCTTCCAGGCTGAAGAAACAACATGTGCAAAGGATAGGGATGAAAGAGCATACTGCATCTTACGGGGAAAAATGAACATACCTACAAGGAGTTCAGTGTGGCTATAGCAGAGGAGTGAGGTGGGCAGTGCTGGGGGATGAGGCTAGAGGTCAGCAGGGACTGGATCATGCATGGTAATGAGGAGCTTAGCCTTTATCCTGAAGCAATGGAGAGTGAGACTCCTTCTCTGGACCCTTCCAGCACTTCATGTTGACAGCACTTGATCACCCTTTCTTGCTCTTTGTTCCATATGAGTTGGCTTTGTTTCCCCAATTAAGTGAGCTACCTGAGGGCAGGGCCCATGGAGGCCCGCTTTTGTGGTTAATGCGAACTGGTCCAGTGCCATGCAGGGGAATGCTTATTGAAGGGACAAGAAGCAGAGCATTAAGAAGTCAGGGCTGGGTCCTTACAAACTGGGCATTGCTGTGGTTCCTCCGTAGCCTCATGGTCATCTTGGTGCAGGGTTCTGGGCTGTGACTCAGCTCCTCCTTGCTCTCCAGGAAGGTCTTAGGCGATGTTGACTCCACCTTCACATCCCCACCTAACTCCTCCTTCACCACTACTGTGGGGGGACACTCAGGCCCCTCCTTATCTGGGAGAGAGAAAAATGGCTGTAAACACAGGTCTAGGACACTTAGGGCCCTGACTTTTCTCCCCAGGTGAGGCCACCCCAGCCTGTTAGGCCTTACCTTTCTTCCGCAGAGTCTTGTCTTTGGCCATGAGGCCCAGGCCCATCATCTTGGGGCCTGCCCCATAGATCTGTAGCTTTTTCAGCTCTGGATTCTTCTCAATGTCTTCCTCTGTGGGTTCCGGCTGGAAGGAAAGAAGGAAATGAATCAAGACTGCTATCTGGGGCAGACTGTCCCATCCTAAAAGAACAGTAACTCGGACTACATATCACCTGATCTCATGCTGAGGGCTGAGGCACAGATGGGCTAAGCCAAGAACTCAGAGTTGCTTTTTGGAGACTGAGGGTAGGTGAGCTGCCCCCTCGGCCCTCTCTCAGAAAGGAATAAAAGACAGGATATCTCAGTTTTCCCAACTGTAAAATGAGAATATTACCTCCTCCCTTATAGTTATGAGGGGGGTTAGGGACAATACATATGAAAAAGCTAACAGTGTTTGGCATTACCAACAAATGGCAGTCTAATAGGATCTGCTAAATTACATGCTTCGATGAGCCCAGGGACAGTGTCCATCTTGTTCTCTATTGTATTCCCAGTGCCAAGAATGCCTGGCACATAAGCTTCTGCCTGAAGACATAGCTACAAGGAGCTGGGAACAGTGGTACACACCTGTAGTCCTAGCTACTCCAGAGGCTGAGGTGAGAGGATCACTCAAGCCTAGGAGTTCAAGATTATAGTGCATTATGATCAAGCCTGTGAATAGCCACTGTACTCCAGTCTGGGCGACATAGCAAGACCCTATGCCTCAAAACAAAACAAAACAAAAGATACAGGTATAAAGAGAAAGAAGAGTTCTACTTCTATGAGCAGAGTAAGTCCGGAAAGGAACAAAACAGGCAAGAAGAGCAGACATACAAAAGAGGTTGCACAAACAGATCAAGACCCAGCTCAGCAGCTCAGCTGAGAGGGGAGAAAAAAGCAAGAGTGAAGCCAGAGAGAGGCACACTAATGCTCAGAAGAACTCAGAGAACAAAAGAAGGGATAATGGAACAGGGAACACAGCCTTAGCCAGAAGGAAGGAGAGGACTCCCTCCACCTCAAAGCTCTAAGTTCGAAGAAGGGGAGTACTCACATCAGGCTGCAGTCTCTTGGCCCGCCGGCCATAGCTGTTGAACTTGGAAGGCTGCACAGACTGTCGTAGGGGGATGCTGTGGGGTTTGTATTCCTTGTCCTTCTCCTCATTATCAAATGGACGTGTGTTACACTGCTGGGGACAGGTAAGGGGTAAGGGTCAGGACATGGACTCCAGCCCGCAAAAGCAATAACTTCCCTCTACCCTCACCCAATGGCATCCAAAGCTGTGGTCCACTCACCTGACCCACACCAACAGCCCCTGTTCCACTGGTCTTTAGCACTGACACCAGCACACATTTTGGGAATTCTCAGTACCTTTGCTTGTATCACTCCTCCCTTCCAGTCACTTCCTCCACCAACCATCTCCCCAACTAAATCAGACGCCATCTCTTCCCACACCTTCTAGCCCAAGCTCTCCCTTCTCTGATTTCTCTATCAGTTAAAACTTTGTCACATAACAAATAAGCTAGCCGTACAGATAACTCCAGGACCTCTGACCCTGAGCAGTGTAGAAAGAGAATAAGCATCACTAGGAAAGAGCAGAGTCCAACTCCCAGGTCTCCAGTCCACTAAACCAGTTTCATTAAGAGCAAGTGTGGAAATCTGTGCTGAAGGGTAAAGCCGCACCCTGCCCCACTGTGACATCCTTACCACAAGGTTGGCTCCAGACTGGTACATTTCATAGGGATAAACAATGCGTTCGTAGTGGGAGCGTAGCAAGGAGCCAATATTTTTGCCTGGTGGATAGTTGAGGCGCTGGGCTACCCGAGCCCACCGACGGTCCTTGCAGATAGCTTCATAACCACCTTCCTCCACCACAATCTGAAAAAACAAGTAGGAAAAGACATGGATG
|
ACAATGGTTATCACTGGGTGGTGGGAACACAAGTAATTTGCCTATTTTCCAAAATGTCTTTTTTTTTTTTGAAGACAGGGTCTCATTTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATTTTGGCACACTGCAACCTCCGCCTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCCGAGCAGCTGGGACAACAGGCGTGCGCCACCATGCCTGGCTAATTTTTGTATCTTTTTTGGTAGAGACGGGGTTTCGCCATGTTGCCCAGGCTGGTCTCAAACTTCTGGGCTCAAACGATCCGCCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCAAACTTTCTAAAAAAGAAAAAAAAAAACAAAACAAAAACTCAGAAATTGAAAGAACATTTTTTTCTTAATATTCCTATCCTTCAAGTCTCATTTCTGACATTTTCCCTGATTATTACCCTTAGCTATTTTCCTCTCCTCTGAACTTCTATATCTCAGAGTTTCTAACACACAATTTAGCCTCTGTTTATATGTCACCACATATAGTCTAATTATGATGCTTACCTCTCCAGGTGGTCTGGGAGCTCTTAGAGGACAGAAGCAAAGGCTGAATCTCCTGCTCCTTTCTCCCAAAGCTCTGCCCAGCCTAATCCCACCACAGAGACCCAAAACCTAAGACTATGGCTGAGCTAAGAGGCTGCCCTCAATAAGGCCAGATGAAGGAAGGCAAGGAAGCCCTATGAGGCAGATGTGGAGTGGGGAGGCCTTACCGCCATGACACACTTTGGGCACCGCCAGACACCCTTGGGGATCTCAGGCAGAGGAGGCAGCAGGCAGAAGATGTGGTAGTTGTCATCACAGCCATCACACAGCAGGAGCTTGTCATCCTCATCCCCTCGAGAACACATCCGGCAGACATATGACTCAATCTGCCAGGGGAGAAGAGCAAAAGTTCTCCATTGGAAATCCACTGTGTTTGCTGGCTGAATGATTTACAGCCCTGTATAGGCTAGTCATGCTAGGTCTGGAGCTCAACTGCACGTATGTACCATCTCCCCAAATAAGCAGGTAGAGCTGCAAGAGCAGTCTTTTATCATCCAGTCTTGAATCCTCCCATTTTTATTCATCCAATAAACACTTACTAAACCCGTATTCAGAACTACGCTGGACTCTAGCACAAAGACAAGACATGGTATCCTTCCAAGTATATACAGTACTCTAGAGACATGTGTTCATAAAAATTAAAAATTGCCAATAGCGGTCCATAAAGGGCACTGTGGGAGCCTAGAGAAGGAAGCACTCAAAGCAGCTGGAGATAAGGAGGGATGGCCTTGAGAAAGGACTTCATTGAAAAGGTAACACCTGAAACTGGCTGAAACCTGAAGGCAAAACAAAACATGGCAACAGGGCAGAGCACAGGGGGAATCTCTTCCAGGCTGAAGAAACAACATGTGCAAAGGATAGGGATGAAAGAGCATACTGCATCTTACGGGGAAAAATGAACATACCTACAAGGAGTTCAGTGTGGCTATAGCAGAGGAGTGAGGTGGGCAGTGCTGGGGGATGAGGCTAGAGGTCAGCAGGGACTGGATCATGCATGGTAATGAGGAGCTTAGCCTTTATCCTGAAGCAATGGAGAGTGAGACTCCTTCTCTGGACCCTTCCAGCACTTCATGTTGACAGCACTTGATCACCCTTTCTTGCTCTTTGTTCCATATGAGTTGGCTTTGTTTCCCCAATTAAGTGAGCTACCTGAGGGCAGGGCCCATGGAGGCCCGCTTTTGTGGTTAATGCGAACTGGTCCAGTGCCATGCAGGGGAATGCTTATTGAAGGGACAAGAAGCAGAGCATTAAGAAGTCAGGGCTGGGTCCTTACAAACTGGGCATTGCTGTGGTTCCTCCGTAGCCTCATGGTCATCTTGGTGCAGGGTTCTGGGCTGTGACTCAGCTCCTCCTTGCTCTCCAGGAAGGTCTTAGGCGATGTTGACTCCACCTTCACATCCCCACCTAACTCCTCCTTCACCACTACTGTGGGGGACACTCAGGCCCCTCCTTATCTGGGAGAGAGAAAAATGGCTGTAAACACAGGTCTAGGACACTTAGGGCCCTGACTTTTCTCCCCAGGTGAGGCCACCCCAGCCTGTTAGGCCTTACCTTTCTTCCGCAGAGTCTTGTCTTTGGCCATGAGGCCCAGGCCCATCATCTTGGGGCCTGCCCCATAGATCTGTAGCTTTTTCAGCTCTGGATTCTTCTCAATGTCTTCCTCTGTGGGTTCCGGCTGGAAGGAAAGAAGGAAATGAATCAAGACTGCTATCTGGGGCAGACTGTCCCATCCTAAAAGAACAGTAACTCGGACTACATATCACCTGATCTCATGCTGAGGGCTGAGGCACAGATGGGCTAAGCCAAGAACTCAGAGTTGCTTTTTGGAGACTGAGGGTAGGTGAGCTGCCCCCTCGGCCCTCTCTCAGAAAGGAATAAAAGACAGGATATCTCAGTTTTCCCAACTGTAAAATGAGAATATTACCTCCTCCCTTATAGTTATGAGGGGGGTTAGGGACAATACATATGAAAAAGCTAACAGTGTTTGGCATTACCAACAAATGGCAGTCTAATAGGATCTGCTAAATTACATGCTTCGATGAGCCCAGGGACAGTGTCCATCTTGTTCTCTATTGTATTCCCAGTGCCAAGAATGCCTGGCACATAAGCTTCTGCCTGAAGACATAGCTACAAGGAGCTGGGAACAGTGGTACACACCTGTAGTCCTAGCTACTCCAGAGGCTGAGGTGAGAGGATCACTCAAGCCTAGGAGTTCAAGATTATAGTGCATTATGATCAAGCCTGTGAATAGCCACTGTACTCCAGTCTGGGCGACATAGCAAGACCCTATGCCTCAAAACAAAACAAAACAAAAGATACAGGTATAAAGAGAAAGAAGAGTTCTACTTCTATGAGCAGAGTAAGTCCGGAAAGGAACAAAACAGGCAAGAAGAGCAGACATACAAAAGAGGTTGCACAAACAGATCAAGACCCAGCTCAGCAGCTCAGCTGAGAGGGGAGAAAAAAGCAAGAGTGAAGCCAGAGAGAGGCACACTAATGCTCAGAAGAACTCAGAGAACAAAAGAAGGGATAATGGAACAGGGAACACAGCCTTAGCCAGAAGGAAGGAGAGGACTCCCTCCACCTCAAAGCTCTAAGTTCGAAGAAGGGGAGTACTCACATCAGGCTGCAGTCTCTTGGCCCGCCGGCCATAGCTGTTGAACTTGGAAGGCTGCACAGACTGTCGTAGGGGGATGCTGTGGGGTTTGTATTCCTTGTCCTTCTCCTCATTATCAAATGGACGTGTGTTACACTGCTGGGGACAGGTAAGGGGTAAGGGTCAGGACATGGACTCCAGCCCGCAAAAGCAATAACTTCCCTCTACCCTCACCCAATGGCATCCAAAGCTGTGGTCCACTCACCTGACCCACACCAACAGCCCCTGTTCCACTGGTCTTTAGCACTGACACCAGCACACATTTTGGGAATTCTCAGTACCTTTGCTTGTATCACTCCTCCCTTCCAGTCACTTCCTCCACCAACCATCTCCCCAACTAAATCAGACGCCATCTCTTCCCACACCTTCTAGCCCAAGCTCTCCCTTCTCTGATTTCTCTATCAGTTAAAACTTTGTCACATAACAAATAAGCTAGCCGTACAGATAACTCCAGGACCTCTGACCCTGAGCAGTGTAGAAAGAGAATAAGCATCACTAGGAAAGAGCAGAGTCCAACTCCCAGGTCTCCAGTCCACTAAACCAGTTTCATTAAGAGCAAGTGTGGAAATCTGTGCTGAAGGGTAAAGCCGCACCCTGCCCCACTGTGACATCCTTACCACAAGGTTGGCTCCAGACTGGTACATTTCATAGGGATAAACAATGCGTTCGTAGTGGGAGCGTAGCAAGGAGCCAATATTTTTGCCTGGTGGATAGTTGAGGCGCTGGGCTACCCGAGCCCACCGACGGTCCTTGCAGATAGCTTCATAACCACCTTCCTCCACCACAATCTGAAAAAACAAGTAGGAAAAGACATGGATGN
|
pathogenic
| 334,477 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 53234266, gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2): what disease(s) if pathogenic?
|
pathogenic; ['Intellectual_disability,_X-linked_1']
|
GCCTGTCCCCTTCTCTGTAAACGAAAGGGAGTCCAGCTCTTTGTTATCTGACATCCTAAGTGTATATGCAGAACTCTTAAAATGTATCTAGCCCTGTGCCTTCCAAATCACTCCCCTACCCTCAAGGATAGAAATGTGGCCAGCCATTGTGGGGATGAGGAGGAGCTCCAAGGCCAGGCCAGGCCAGCCACATCCAGGGTGAGAGGAGATGCCCCAAGAGTGGAAGGAAGCATTCATCCTATGAAACGAAGACAAGGGAACTAACTTGCTCAGCTCTGTCCTGGCTCCTTGGCACCCATTACCCCTGGGAATCATCATATCTCCATGTGGCAATGGCTTATCACCCCAAGTTTTACACTGAGGAAACTGAGACTCAGAGAGGGTGACTCTCCCGAATTCACATGCCTAGGAAGTGAAAACCCCAGGATGTGAACTGGATCAACTCCAAAGCCCATACTCTTGCCACTCTGTCGCACAAACTGTGTATGAAATGAGATAGGAAAACCTCCCTCACTCCCACCTCCCTCCAAGCAAAGCATCTCGTCCACCCAGGTGCCTGAATTTCTACCATTAGCGCATTGCCTCCCTGGGCTAAGGCCTCTCTCCATGGGCTCCACAGTGGGGAAGGGGCGCAGAAGTAGGAGGCAGAGGCAGGAGGTGAGCACAAGGTCTTTTATGAGGCATCAAATATACATTCTTATATACAAGGAGGAAAAAAGACAATGCCTGAACCCCAGCTCCTCTCCATACAGCCCCTCCCACTGCCACCCTCCCCCGCCCCCAAGCCCCAGTGGCCCTGGCCCTTCGTACAGCCAGGGTCCATCTGTCTGTCTATACTGCAGCCCATGGTGGAGAGGGGAGAGGGAGGCAGGAGCTGAGTGAGGAGCTGGATATGCGGGGCAAGAAGAGGAGCTGGGGCTTGTAAAAAATATATTTATAATAAATAAACAGGGCTGCAAAAGGGCTGGAGAGGCAGCGGAGATTCTGACGGACAGAAGGACTCAGGCATTCTGGCTCCCAACCCCAGCTCTGATGGCTTCAATCTCTGCCTCAGGAAGGATATCTTGGGCTCATGGTGGCCCTTTGGGAGCCTCTCTCCCCAGGGCTGATGCTGGGTGCCCCTGCCCCAGCGAGGTGTGTGTGGGTGATATCTGTAAAGTGCATTGTCTTCAGTTGTAGGTGGGGTAGGTGTAAGGGAATGGCGGGGGGGCATGCAATATGGGTGAGGGAGGGCAGTGCCCTTCTCATCCCAGACCTGAGCCCCCCCCAAAACCTGTCTGGACTTTGATCAGGATAAGAACGTTGCAGGGCGAGGCAAGTTCCTGAAGCCGAAGAGGTCTGGGCTGGGGCCTACTGGAGAAAGGGCATAGACTGGCTCGAGAGAGGAAGCACTGCCCCACGTGGGGCCAACACAAGCAGGGTCCCACCCACCAAGTGCATCAATGGTCCGTGTCCTCCAGCAGGCAAAAAGACACATGGAAGTGTGTGGCCAGGCCCTGAGGTCAGAGAGAGGGCCAAGCCAGCTGAAGTTTGGCCACAACTCTACAGAGCGCTCTCCTAGCCCCACACGGCCAGAGGAGCCCCAGGGAAGCCTTCACCCCGACAGCTCCGGACACCTGCCCTTCTCCGCCAGCCAGAGCTCACAGAGAGCTCACACAGGCCCAGAGGTCTGAGGCCACAGAGCTAGACCTCCAGGGAAAAGTGGGGAAGAAGAAGACGGGAGAAAGAGTACGAGGATCTCTGGAAGGCCCTCACCACTCCCCAGCGCTGGAGCACCCTGAGTCCAGGCTTCAAGTGGCAAGGATCCTCGAATCTGGAAGGAAACCCCATGGCAACTGCTGGGGGTGAGAGGACGGGTCCCAAGGCAGGGAGGACATGGGGAGGAGGACATTGCTATGTGTATATATATTTTTGAAAAAACCGAGGAAGCAAAGAGGGTGCAAGGTCCCTCTCCTGTGGCTCCCCAGACTTTCCTGTTCCCCAGCTCACTCTCTCCATTCATCAGACCACGGTGCTGATCCGGCTTGGCTTGGCCTTGGGGTTTGCACTGGGGGGGTTGGCTGTGCCAGGGGGCCCAGAGGCGTGCAGCGGGCCATGGGGGGAGGTGGGTGGAAGGGGTGAGTGCGGGGTGTGAGGGGAGGGTGGGGGGAGGGGTGGATAGGAGGGGTGGGGTGGGATGGGTGAGTGTGGTGACAATGGTGACTGGGGGTGGTGGGGGTGGGAGTAGGAGCCCCCTGGTGGCCGGGATCCAGGGCCCCCAGCCGCGCCTGCTGCTGGCATCATCTGTGGGTGGTGGCTGAAGATGAAGTGCTTAGGGCCCTGTTTGTGGGCTGGAGGGTGCTGGGGGGCAGGACTGTACAGGGGCAGTGGGGATGTGGGCTGGTGCAGGGGGTGGCGGCCATGTGGAGCAAACTGAGGGTGTCCTCCAGCCCCCCGTCTGGGTGCCCTGCCTGGCCGGCCCAAGGTATAGTGTTGGGGCCCTGGGACTGGGCCATGGGCGTGGAAGTGGCGATGTGGCCCCACAGGTGGGGCTGAGGCGGGAGGCGGTGGAATGGAGCCCAGCTGGGGCAAGGGTGGGGGCTGCTGGGGAGGTGGGGGAAGAGAGGGCTGCTGGGGTGGGAGGTAGGGTGGCGGGGCAGGGCCCGGTCCTTGGCAATACTGGGCATGCAGGGCCTGGAGCTTGGACTGCCCATCAGGCAGCACCCCCAGGCCACCGTGGCTATGGCCATGATGGTGGTGGTGGTGGTGGTGGTGCGTGGAAGAAGCAGATGAAGAGGAGGCAGAGGCCTGGCCTGTTGGCGGTGGTGGCATCTGGAAGGGCCCCTTGCCCCGCTTGCTTCCAAATAGGGAGCCCAGGAAGGATGAGGAGTTGGAGACGGGCCTCTGGCTCTTGTACTCCTCTGGCGGCGGGGGTGGGGGCGGAGGTGGCATCCTCTGGTGAGGGCGTGGACTGCTAATAACAGACCCCTGGAAGCGGGGAGGGGGGAAGTCAGGCCAGGCTAGATGCCCTAAACCCCCAGCCCTAAATTCCACCCCTGTCCCTGAGGGCTGGAGCTGGGGAGACAGCAAACCCCAAGTTGTAATAAAAACCAAATCACAGTCCGGTACGCGTATGTGGAGCTCCCCAGCTTGCAAAGCTCGGCTGTCACATCCACTATCTCAGCTGAGCCTCAGCTGGGAGAGGAGAAATTAGCAGTACCTCCTCCTCATCCCCATTTTGCAGGCAGGGAAAAGGTTAGGCCCAGAGAGGCAGAGTGACTCGCCCAGGGTCAAAGAGCAGGACTTGGAGGTAAGAGCTTCTCGTGGCCCAACTCCAAGGGCATCCCTACTCGCCGTCGGCCCTGGGGTTGAGAGGGGGCACGGGAGAGTGGAAGACAGACTGAGAGACAGGCAGAATGAGGACAGACAGAGTTGAGGACAGATGGAGAGAGTGGTTGGCTGGGAGAGGCAGCCGCATGGTTCCCAGCAGGGAAGAGGGGGAGCAACAGGTCCCCTCCTCCTCTGGGTCTCCATGGCCGGGGCAGGGCTCATGCAGAGGACGAGTGGGGCAGGAGCTGGCACTTACTTCGATGGTGCTGTCCAGCGATCCCACGCTGTTACGCCGCCCCCGCTTCCCTGCACCCACAAGCAAGGAGCCCAGCGTCAGAGCAGCAACCCCCCCCCTACCCTGCTGGGCTCCAGAGCTGGGCACCAGGACTGGGCCCCTCCCGGGGACAGACACCCCATTATCCCTTTCCCCCATTGAAGAGGGGGAGGCGGGGAGGAGGAGAGGTGGAGAAGGAGGAGAAAGAGGAGGAAAAGATGGAGAAGGAGGAGTGGAGGTACAGGAGAGACAGAAGAGGGAGAAGAGGAGGAGAGGGGGAGCAGCGAGAGAGAGGGACCAAGACTGTGGCCCCACTTCACACTCCCTGGCCCAAAAGCTGGGCTCCCCCTGCTCTGACCTGGCTCCCAGGCCCCCTGTGGCGCAGCGCCCAGGGCTCTGGGTGAAGGCAGGGTGCGTGCATGTGTGGCAGGTGGAGGGAAGGCTGGCGGCCAGTGACAGGAGGCAAAGAGGACACCCGGTCCCGTGTCTCCCCAGCCAGGGCAGGGGCCCAGA
|
GCCTGTCCCCTTCTCTGTAAACGAAAGGGAGTCCAGCTCTTTGTTATCTGACATCCTAAGTGTATATGCAGAACTCTTAAAATGTATCTAGCCCTGTGCCTTCCAAATCACTCCCCTACCCTCAAGGATAGAAATGTGGCCAGCCATTGTGGGGATGAGGAGGAGCTCCAAGGCCAGGCCAGGCCAGCCACATCCAGGGTGAGAGGAGATGCCCCAAGAGTGGAAGGAAGCATTCATCCTATGAAACGAAGACAAGGGAACTAACTTGCTCAGCTCTGTCCTGGCTCCTTGGCACCCATTACCCCTGGGAATCATCATATCTCCATGTGGCAATGGCTTATCACCCCAAGTTTTACACTGAGGAAACTGAGACTCAGAGAGGGTGACTCTCCCGAATTCACATGCCTAGGAAGTGAAAACCCCAGGATGTGAACTGGATCAACTCCAAAGCCCATACTCTTGCCACTCTGTCGCACAAACTGTGTATGAAATGAGATAGGAAAACCTCCCTCACTCCCACCTCCCTCCAAGCAAAGCATCTCGTCCACCCAGGTGCCTGAATTTCTACCATTAGCGCATTGCCTCCCTGGGCTAAGGCCTCTCTCCATGGGCTCCACAGTGGGGAAGGGGCGCAGAAGTAGGAGGCAGAGGCAGGAGGTGAGCACAAGGTCTTTTATGAGGCATCAAATATACATTCTTATATACAAGGAGGAAAAAAGACAATGCCTGAACCCCAGCTCCTCTCCATACAGCCCCTCCCACTGCCACCCTCCCCCGCCCCCAAGCCCCAGTGGCCCTGGCCCTTCGTACAGCCAGGGTCCATCTGTCTGTCTATACTGCAGCCCATGGTGGAGAGGGGAGAGGGAGGCAGGAGCTGAGTGAGGAGCTGGATATGCGGGGCAAGAAGAGGAGCTGGGGCTTGTAAAAAATATATTTATAATAAATAAACAGGGCTGCAAAAGGGCTGGAGAGGCAGCGGAGATTCTGACGGACAGAAGGACTCAGGCATTCTGGCTCCCAACCCCAGCTCTGATGGCTTCAATCTCTGCCTCAGGAAGGATATCTTGGGCTCATGGTGGCCCTTTGGGAGCCTCTCTCCCCAGGGCTGATGCTGGGTGCCCCTGCCCCAGCGAGGTGTGTGTGGGTGATATCTGTAAAGTGCATTGTCTTCAGTTGTAGGTGGGGTAGGTGTAAGGGAATGGCGGGGGGGCATGCAATATGGGTGAGGGAGGGCAGTGCCCTTCTCATCCCAGACCTGAGCCCCCCCCAAAACCTGTCTGGACTTTGATCAGGATAAGAACGTTGCAGGGCGAGGCAAGTTCCTGAAGCCGAAGAGGTCTGGGCTGGGGCCTACTGGAGAAAGGGCATAGACTGGCTCGAGAGAGGAAGCACTGCCCCACGTGGGGCCAACACAAGCAGGGTCCCACCCACCAAGTGCATCAATGGTCCGTGTCCTCCAGCAGGCAAAAAGACACATGGAAGTGTGTGGCCAGGCCCTGAGGTCAGAGAGAGGGCCAAGCCAGCTGAAGTTTGGCCACAACTCTACAGAGCGCTCTCCTAGCCCCACACGGCCAGAGGAGCCCCAGGGAAGCCTTCACCCCGACAGCTCCGGACACCTGCCCTTCTCCGCCAGCCAGAGCTCACAGAGAGCTCACACAGGCCCAGAGGTCTGAGGCCACAGAGCTAGACCTCCAGGGAAAAGTGGGGAAGAAGAAGACGGGAGAAAGAGTACGAGGATCTCTGGAAGGCCCTCACCACTCCCCAGCGCTGGAGCACCCTGAGTCCAGGCTTCAAGTGGCAAGGATCCTCGAATCTGGAAGGAAACCCCATGGCAACTGCTGGGGGTGAGAGGACGGGTCCCAAGGCAGGGAGGACATGGGGAGGAGGACATTGCTATGTGTATATATATTTTTGAAAAAACCGAGGAAGCAAAGAGGGTGCAAGGTCCCTCTCCTGTGGCTCCCCAGACTTTCCTGTTCCCCAGCTCACTCTCTCCATTCATCAGACCACGGTGCTGATCCGGCTTGGCTTGGCCTTGGGGTTTGCACTGGGGGGGGTTGGCTGTGCCAGGGGGCCCAGAGGCGTGCAGCGGGCCATGGGGGGAGGTGGGTGGAAGGGGTGAGTGCGGGGTGTGAGGGGAGGGTGGGGGGAGGGGTGGATAGGAGGGGTGGGGTGGGATGGGTGAGTGTGGTGACAATGGTGACTGGGGGTGGTGGGGGTGGGAGTAGGAGCCCCCTGGTGGCCGGGATCCAGGGCCCCCAGCCGCGCCTGCTGCTGGCATCATCTGTGGGTGGTGGCTGAAGATGAAGTGCTTAGGGCCCTGTTTGTGGGCTGGAGGGTGCTGGGGGGCAGGACTGTACAGGGGCAGTGGGGATGTGGGCTGGTGCAGGGGGTGGCGGCCATGTGGAGCAAACTGAGGGTGTCCTCCAGCCCCCCGTCTGGGTGCCCTGCCTGGCCGGCCCAAGGTATAGTGTTGGGGCCCTGGGACTGGGCCATGGGCGTGGAAGTGGCGATGTGGCCCCACAGGTGGGGCTGAGGCGGGAGGCGGTGGAATGGAGCCCAGCTGGGGCAAGGGTGGGGGCTGCTGGGGAGGTGGGGGAAGAGAGGGCTGCTGGGGTGGGAGGTAGGGTGGCGGGGCAGGGCCCGGTCCTTGGCAATACTGGGCATGCAGGGCCTGGAGCTTGGACTGCCCATCAGGCAGCACCCCCAGGCCACCGTGGCTATGGCCATGATGGTGGTGGTGGTGGTGGTGGTGCGTGGAAGAAGCAGATGAAGAGGAGGCAGAGGCCTGGCCTGTTGGCGGTGGTGGCATCTGGAAGGGCCCCTTGCCCCGCTTGCTTCCAAATAGGGAGCCCAGGAAGGATGAGGAGTTGGAGACGGGCCTCTGGCTCTTGTACTCCTCTGGCGGCGGGGGTGGGGGCGGAGGTGGCATCCTCTGGTGAGGGCGTGGACTGCTAATAACAGACCCCTGGAAGCGGGGAGGGGGGAAGTCAGGCCAGGCTAGATGCCCTAAACCCCCAGCCCTAAATTCCACCCCTGTCCCTGAGGGCTGGAGCTGGGGAGACAGCAAACCCCAAGTTGTAATAAAAACCAAATCACAGTCCGGTACGCGTATGTGGAGCTCCCCAGCTTGCAAAGCTCGGCTGTCACATCCACTATCTCAGCTGAGCCTCAGCTGGGAGAGGAGAAATTAGCAGTACCTCCTCCTCATCCCCATTTTGCAGGCAGGGAAAAGGTTAGGCCCAGAGAGGCAGAGTGACTCGCCCAGGGTCAAAGAGCAGGACTTGGAGGTAAGAGCTTCTCGTGGCCCAACTCCAAGGGCATCCCTACTCGCCGTCGGCCCTGGGGTTGAGAGGGGGCACGGGAGAGTGGAAGACAGACTGAGAGACAGGCAGAATGAGGACAGACAGAGTTGAGGACAGATGGAGAGAGTGGTTGGCTGGGAGAGGCAGCCGCATGGTTCCCAGCAGGGAAGAGGGGGAGCAACAGGTCCCCTCCTCCTCTGGGTCTCCATGGCCGGGGCAGGGCTCATGCAGAGGACGAGTGGGGCAGGAGCTGGCACTTACTTCGATGGTGCTGTCCAGCGATCCCACGCTGTTACGCCGCCCCCGCTTCCCTGCACCCACAAGCAAGGAGCCCAGCGTCAGAGCAGCAACCCCCCCCCTACCCTGCTGGGCTCCAGAGCTGGGCACCAGGACTGGGCCCCTCCCGGGGACAGACACCCCATTATCCCTTTCCCCCATTGAAGAGGGGGAGGCGGGGAGGAGGAGAGGTGGAGAAGGAGGAGAAAGAGGAGGAAAAGATGGAGAAGGAGGAGTGGAGGTACAGGAGAGACAGAAGAGGGAGAAGAGGAGGAGAGGGGGAGCAGCGAGAGAGAGGGACCAAGACTGTGGCCCCACTTCACACTCCCTGGCCCAAAAGCTGGGCTCCCCCTGCTCTGACCTGGCTCCCAGGCCCCCTGTGGCGCAGCGCCCAGGGCTCTGGGTGAAGGCAGGGTGCGTGCATGTGTGGCAGGTGGAGGGAAGGCTGGCGGCCAGTGACAGGAGGCAAAGAGGACACCCGGTCCCGTGTCTCCCCAGCCAGGGCAGGGGCCCAG
|
pathogenic
| 334,496 |
For chromosome X, position 53234266, gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Intellectual_disability,_X-linked_1']
|
GCCTGTCCCCTTCTCTGTAAACGAAAGGGAGTCCAGCTCTTTGTTATCTGACATCCTAAGTGTATATGCAGAACTCTTAAAATGTATCTAGCCCTGTGCCTTCCAAATCACTCCCCTACCCTCAAGGATAGAAATGTGGCCAGCCATTGTGGGGATGAGGAGGAGCTCCAAGGCCAGGCCAGGCCAGCCACATCCAGGGTGAGAGGAGATGCCCCAAGAGTGGAAGGAAGCATTCATCCTATGAAACGAAGACAAGGGAACTAACTTGCTCAGCTCTGTCCTGGCTCCTTGGCACCCATTACCCCTGGGAATCATCATATCTCCATGTGGCAATGGCTTATCACCCCAAGTTTTACACTGAGGAAACTGAGACTCAGAGAGGGTGACTCTCCCGAATTCACATGCCTAGGAAGTGAAAACCCCAGGATGTGAACTGGATCAACTCCAAAGCCCATACTCTTGCCACTCTGTCGCACAAACTGTGTATGAAATGAGATAGGAAAACCTCCCTCACTCCCACCTCCCTCCAAGCAAAGCATCTCGTCCACCCAGGTGCCTGAATTTCTACCATTAGCGCATTGCCTCCCTGGGCTAAGGCCTCTCTCCATGGGCTCCACAGTGGGGAAGGGGCGCAGAAGTAGGAGGCAGAGGCAGGAGGTGAGCACAAGGTCTTTTATGAGGCATCAAATATACATTCTTATATACAAGGAGGAAAAAAGACAATGCCTGAACCCCAGCTCCTCTCCATACAGCCCCTCCCACTGCCACCCTCCCCCGCCCCCAAGCCCCAGTGGCCCTGGCCCTTCGTACAGCCAGGGTCCATCTGTCTGTCTATACTGCAGCCCATGGTGGAGAGGGGAGAGGGAGGCAGGAGCTGAGTGAGGAGCTGGATATGCGGGGCAAGAAGAGGAGCTGGGGCTTGTAAAAAATATATTTATAATAAATAAACAGGGCTGCAAAAGGGCTGGAGAGGCAGCGGAGATTCTGACGGACAGAAGGACTCAGGCATTCTGGCTCCCAACCCCAGCTCTGATGGCTTCAATCTCTGCCTCAGGAAGGATATCTTGGGCTCATGGTGGCCCTTTGGGAGCCTCTCTCCCCAGGGCTGATGCTGGGTGCCCCTGCCCCAGCGAGGTGTGTGTGGGTGATATCTGTAAAGTGCATTGTCTTCAGTTGTAGGTGGGGTAGGTGTAAGGGAATGGCGGGGGGGCATGCAATATGGGTGAGGGAGGGCAGTGCCCTTCTCATCCCAGACCTGAGCCCCCCCCAAAACCTGTCTGGACTTTGATCAGGATAAGAACGTTGCAGGGCGAGGCAAGTTCCTGAAGCCGAAGAGGTCTGGGCTGGGGCCTACTGGAGAAAGGGCATAGACTGGCTCGAGAGAGGAAGCACTGCCCCACGTGGGGCCAACACAAGCAGGGTCCCACCCACCAAGTGCATCAATGGTCCGTGTCCTCCAGCAGGCAAAAAGACACATGGAAGTGTGTGGCCAGGCCCTGAGGTCAGAGAGAGGGCCAAGCCAGCTGAAGTTTGGCCACAACTCTACAGAGCGCTCTCCTAGCCCCACACGGCCAGAGGAGCCCCAGGGAAGCCTTCACCCCGACAGCTCCGGACACCTGCCCTTCTCCGCCAGCCAGAGCTCACAGAGAGCTCACACAGGCCCAGAGGTCTGAGGCCACAGAGCTAGACCTCCAGGGAAAAGTGGGGAAGAAGAAGACGGGAGAAAGAGTACGAGGATCTCTGGAAGGCCCTCACCACTCCCCAGCGCTGGAGCACCCTGAGTCCAGGCTTCAAGTGGCAAGGATCCTCGAATCTGGAAGGAAACCCCATGGCAACTGCTGGGGGTGAGAGGACGGGTCCCAAGGCAGGGAGGACATGGGGAGGAGGACATTGCTATGTGTATATATATTTTTGAAAAAACCGAGGAAGCAAAGAGGGTGCAAGGTCCCTCTCCTGTGGCTCCCCAGACTTTCCTGTTCCCCAGCTCACTCTCTCCATTCATCAGACCACGGTGCTGATCCGGCTTGGCTTGGCCTTGGGGTTTGCACTGGGGGGGTTGGCTGTGCCAGGGGGCCCAGAGGCGTGCAGCGGGCCATGGGGGGAGGTGGGTGGAAGGGGTGAGTGCGGGGTGTGAGGGGAGGGTGGGGGGAGGGGTGGATAGGAGGGGTGGGGTGGGATGGGTGAGTGTGGTGACAATGGTGACTGGGGGTGGTGGGGGTGGGAGTAGGAGCCCCCTGGTGGCCGGGATCCAGGGCCCCCAGCCGCGCCTGCTGCTGGCATCATCTGTGGGTGGTGGCTGAAGATGAAGTGCTTAGGGCCCTGTTTGTGGGCTGGAGGGTGCTGGGGGGCAGGACTGTACAGGGGCAGTGGGGATGTGGGCTGGTGCAGGGGGTGGCGGCCATGTGGAGCAAACTGAGGGTGTCCTCCAGCCCCCCGTCTGGGTGCCCTGCCTGGCCGGCCCAAGGTATAGTGTTGGGGCCCTGGGACTGGGCCATGGGCGTGGAAGTGGCGATGTGGCCCCACAGGTGGGGCTGAGGCGGGAGGCGGTGGAATGGAGCCCAGCTGGGGCAAGGGTGGGGGCTGCTGGGGAGGTGGGGGAAGAGAGGGCTGCTGGGGTGGGAGGTAGGGTGGCGGGGCAGGGCCCGGTCCTTGGCAATACTGGGCATGCAGGGCCTGGAGCTTGGACTGCCCATCAGGCAGCACCCCCAGGCCACCGTGGCTATGGCCATGATGGTGGTGGTGGTGGTGGTGGTGCGTGGAAGAAGCAGATGAAGAGGAGGCAGAGGCCTGGCCTGTTGGCGGTGGTGGCATCTGGAAGGGCCCCTTGCCCCGCTTGCTTCCAAATAGGGAGCCCAGGAAGGATGAGGAGTTGGAGACGGGCCTCTGGCTCTTGTACTCCTCTGGCGGCGGGGGTGGGGGCGGAGGTGGCATCCTCTGGTGAGGGCGTGGACTGCTAATAACAGACCCCTGGAAGCGGGGAGGGGGGAAGTCAGGCCAGGCTAGATGCCCTAAACCCCCAGCCCTAAATTCCACCCCTGTCCCTGAGGGCTGGAGCTGGGGAGACAGCAAACCCCAAGTTGTAATAAAAACCAAATCACAGTCCGGTACGCGTATGTGGAGCTCCCCAGCTTGCAAAGCTCGGCTGTCACATCCACTATCTCAGCTGAGCCTCAGCTGGGAGAGGAGAAATTAGCAGTACCTCCTCCTCATCCCCATTTTGCAGGCAGGGAAAAGGTTAGGCCCAGAGAGGCAGAGTGACTCGCCCAGGGTCAAAGAGCAGGACTTGGAGGTAAGAGCTTCTCGTGGCCCAACTCCAAGGGCATCCCTACTCGCCGTCGGCCCTGGGGTTGAGAGGGGGCACGGGAGAGTGGAAGACAGACTGAGAGACAGGCAGAATGAGGACAGACAGAGTTGAGGACAGATGGAGAGAGTGGTTGGCTGGGAGAGGCAGCCGCATGGTTCCCAGCAGGGAAGAGGGGGAGCAACAGGTCCCCTCCTCCTCTGGGTCTCCATGGCCGGGGCAGGGCTCATGCAGAGGACGAGTGGGGCAGGAGCTGGCACTTACTTCGATGGTGCTGTCCAGCGATCCCACGCTGTTACGCCGCCCCCGCTTCCCTGCACCCACAAGCAAGGAGCCCAGCGTCAGAGCAGCAACCCCCCCCCTACCCTGCTGGGCTCCAGAGCTGGGCACCAGGACTGGGCCCCTCCCGGGGACAGACACCCCATTATCCCTTTCCCCCATTGAAGAGGGGGAGGCGGGGAGGAGGAGAGGTGGAGAAGGAGGAGAAAGAGGAGGAAAAGATGGAGAAGGAGGAGTGGAGGTACAGGAGAGACAGAAGAGGGAGAAGAGGAGGAGAGGGGGAGCAGCGAGAGAGAGGGACCAAGACTGTGGCCCCACTTCACACTCCCTGGCCCAAAAGCTGGGCTCCCCCTGCTCTGACCTGGCTCCCAGGCCCCCTGTGGCGCAGCGCCCAGGGCTCTGGGTGAAGGCAGGGTGCGTGCATGTGTGGCAGGTGGAGGGAAGGCTGGCGGCCAGTGACAGGAGGCAAAGAGGACACCCGGTCCCGTGTCTCCCCAGCCAGGGCAGGGGCCCAGA
|
GCCTGTCCCCTTCTCTGTAAACGAAAGGGAGTCCAGCTCTTTGTTATCTGACATCCTAAGTGTATATGCAGAACTCTTAAAATGTATCTAGCCCTGTGCCTTCCAAATCACTCCCCTACCCTCAAGGATAGAAATGTGGCCAGCCATTGTGGGGATGAGGAGGAGCTCCAAGGCCAGGCCAGGCCAGCCACATCCAGGGTGAGAGGAGATGCCCCAAGAGTGGAAGGAAGCATTCATCCTATGAAACGAAGACAAGGGAACTAACTTGCTCAGCTCTGTCCTGGCTCCTTGGCACCCATTACCCCTGGGAATCATCATATCTCCATGTGGCAATGGCTTATCACCCCAAGTTTTACACTGAGGAAACTGAGACTCAGAGAGGGTGACTCTCCCGAATTCACATGCCTAGGAAGTGAAAACCCCAGGATGTGAACTGGATCAACTCCAAAGCCCATACTCTTGCCACTCTGTCGCACAAACTGTGTATGAAATGAGATAGGAAAACCTCCCTCACTCCCACCTCCCTCCAAGCAAAGCATCTCGTCCACCCAGGTGCCTGAATTTCTACCATTAGCGCATTGCCTCCCTGGGCTAAGGCCTCTCTCCATGGGCTCCACAGTGGGGAAGGGGCGCAGAAGTAGGAGGCAGAGGCAGGAGGTGAGCACAAGGTCTTTTATGAGGCATCAAATATACATTCTTATATACAAGGAGGAAAAAAGACAATGCCTGAACCCCAGCTCCTCTCCATACAGCCCCTCCCACTGCCACCCTCCCCCGCCCCCAAGCCCCAGTGGCCCTGGCCCTTCGTACAGCCAGGGTCCATCTGTCTGTCTATACTGCAGCCCATGGTGGAGAGGGGAGAGGGAGGCAGGAGCTGAGTGAGGAGCTGGATATGCGGGGCAAGAAGAGGAGCTGGGGCTTGTAAAAAATATATTTATAATAAATAAACAGGGCTGCAAAAGGGCTGGAGAGGCAGCGGAGATTCTGACGGACAGAAGGACTCAGGCATTCTGGCTCCCAACCCCAGCTCTGATGGCTTCAATCTCTGCCTCAGGAAGGATATCTTGGGCTCATGGTGGCCCTTTGGGAGCCTCTCTCCCCAGGGCTGATGCTGGGTGCCCCTGCCCCAGCGAGGTGTGTGTGGGTGATATCTGTAAAGTGCATTGTCTTCAGTTGTAGGTGGGGTAGGTGTAAGGGAATGGCGGGGGGGCATGCAATATGGGTGAGGGAGGGCAGTGCCCTTCTCATCCCAGACCTGAGCCCCCCCCAAAACCTGTCTGGACTTTGATCAGGATAAGAACGTTGCAGGGCGAGGCAAGTTCCTGAAGCCGAAGAGGTCTGGGCTGGGGCCTACTGGAGAAAGGGCATAGACTGGCTCGAGAGAGGAAGCACTGCCCCACGTGGGGCCAACACAAGCAGGGTCCCACCCACCAAGTGCATCAATGGTCCGTGTCCTCCAGCAGGCAAAAAGACACATGGAAGTGTGTGGCCAGGCCCTGAGGTCAGAGAGAGGGCCAAGCCAGCTGAAGTTTGGCCACAACTCTACAGAGCGCTCTCCTAGCCCCACACGGCCAGAGGAGCCCCAGGGAAGCCTTCACCCCGACAGCTCCGGACACCTGCCCTTCTCCGCCAGCCAGAGCTCACAGAGAGCTCACACAGGCCCAGAGGTCTGAGGCCACAGAGCTAGACCTCCAGGGAAAAGTGGGGAAGAAGAAGACGGGAGAAAGAGTACGAGGATCTCTGGAAGGCCCTCACCACTCCCCAGCGCTGGAGCACCCTGAGTCCAGGCTTCAAGTGGCAAGGATCCTCGAATCTGGAAGGAAACCCCATGGCAACTGCTGGGGGTGAGAGGACGGGTCCCAAGGCAGGGAGGACATGGGGAGGAGGACATTGCTATGTGTATATATATTTTTGAAAAAACCGAGGAAGCAAAGAGGGTGCAAGGTCCCTCTCCTGTGGCTCCCCAGACTTTCCTGTTCCCCAGCTCACTCTCTCCATTCATCAGACCACGGTGCTGATCCGGCTTGGCTTGGCCTTGGGGTTTGCACTGGGGGGTTGGCTGTGCCAGGGGGCCCAGAGGCGTGCAGCGGGCCATGGGGGGAGGTGGGTGGAAGGGGTGAGTGCGGGGTGTGAGGGGAGGGTGGGGGGAGGGGTGGATAGGAGGGGTGGGGTGGGATGGGTGAGTGTGGTGACAATGGTGACTGGGGGTGGTGGGGGTGGGAGTAGGAGCCCCCTGGTGGCCGGGATCCAGGGCCCCCAGCCGCGCCTGCTGCTGGCATCATCTGTGGGTGGTGGCTGAAGATGAAGTGCTTAGGGCCCTGTTTGTGGGCTGGAGGGTGCTGGGGGGCAGGACTGTACAGGGGCAGTGGGGATGTGGGCTGGTGCAGGGGGTGGCGGCCATGTGGAGCAAACTGAGGGTGTCCTCCAGCCCCCCGTCTGGGTGCCCTGCCTGGCCGGCCCAAGGTATAGTGTTGGGGCCCTGGGACTGGGCCATGGGCGTGGAAGTGGCGATGTGGCCCCACAGGTGGGGCTGAGGCGGGAGGCGGTGGAATGGAGCCCAGCTGGGGCAAGGGTGGGGGCTGCTGGGGAGGTGGGGGAAGAGAGGGCTGCTGGGGTGGGAGGTAGGGTGGCGGGGCAGGGCCCGGTCCTTGGCAATACTGGGCATGCAGGGCCTGGAGCTTGGACTGCCCATCAGGCAGCACCCCCAGGCCACCGTGGCTATGGCCATGATGGTGGTGGTGGTGGTGGTGGTGCGTGGAAGAAGCAGATGAAGAGGAGGCAGAGGCCTGGCCTGTTGGCGGTGGTGGCATCTGGAAGGGCCCCTTGCCCCGCTTGCTTCCAAATAGGGAGCCCAGGAAGGATGAGGAGTTGGAGACGGGCCTCTGGCTCTTGTACTCCTCTGGCGGCGGGGGTGGGGGCGGAGGTGGCATCCTCTGGTGAGGGCGTGGACTGCTAATAACAGACCCCTGGAAGCGGGGAGGGGGGAAGTCAGGCCAGGCTAGATGCCCTAAACCCCCAGCCCTAAATTCCACCCCTGTCCCTGAGGGCTGGAGCTGGGGAGACAGCAAACCCCAAGTTGTAATAAAAACCAAATCACAGTCCGGTACGCGTATGTGGAGCTCCCCAGCTTGCAAAGCTCGGCTGTCACATCCACTATCTCAGCTGAGCCTCAGCTGGGAGAGGAGAAATTAGCAGTACCTCCTCCTCATCCCCATTTTGCAGGCAGGGAAAAGGTTAGGCCCAGAGAGGCAGAGTGACTCGCCCAGGGTCAAAGAGCAGGACTTGGAGGTAAGAGCTTCTCGTGGCCCAACTCCAAGGGCATCCCTACTCGCCGTCGGCCCTGGGGTTGAGAGGGGGCACGGGAGAGTGGAAGACAGACTGAGAGACAGGCAGAATGAGGACAGACAGAGTTGAGGACAGATGGAGAGAGTGGTTGGCTGGGAGAGGCAGCCGCATGGTTCCCAGCAGGGAAGAGGGGGAGCAACAGGTCCCCTCCTCCTCTGGGTCTCCATGGCCGGGGCAGGGCTCATGCAGAGGACGAGTGGGGCAGGAGCTGGCACTTACTTCGATGGTGCTGTCCAGCGATCCCACGCTGTTACGCCGCCCCCGCTTCCCTGCACCCACAAGCAAGGAGCCCAGCGTCAGAGCAGCAACCCCCCCCCTACCCTGCTGGGCTCCAGAGCTGGGCACCAGGACTGGGCCCCTCCCGGGGACAGACACCCCATTATCCCTTTCCCCCATTGAAGAGGGGGAGGCGGGGAGGAGGAGAGGTGGAGAAGGAGGAGAAAGAGGAGGAAAAGATGGAGAAGGAGGAGTGGAGGTACAGGAGAGACAGAAGAGGGAGAAGAGGAGGAGAGGGGGAGCAGCGAGAGAGAGGGACCAAGACTGTGGCCCCACTTCACACTCCCTGGCCCAAAAGCTGGGCTCCCCCTGCTCTGACCTGGCTCCCAGGCCCCCTGTGGCGCAGCGCCCAGGGCTCTGGGTGAAGGCAGGGTGCGTGCATGTGTGGCAGGTGGAGGGAAGGCTGGCGGCCAGTGACAGGAGGCAAAGAGGACACCCGGTCCCGTGTCTCCCCAGCCAGGGCAGGGGCCCAGAN
|
pathogenic
| 334,497 |
Evaluate the clinical significance of the mutation at chromosome X, position 53234646 in gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Intellectual_disability,_X-linked_1']
|
GGGTGACTCTCCCGAATTCACATGCCTAGGAAGTGAAAACCCCAGGATGTGAACTGGATCAACTCCAAAGCCCATACTCTTGCCACTCTGTCGCACAAACTGTGTATGAAATGAGATAGGAAAACCTCCCTCACTCCCACCTCCCTCCAAGCAAAGCATCTCGTCCACCCAGGTGCCTGAATTTCTACCATTAGCGCATTGCCTCCCTGGGCTAAGGCCTCTCTCCATGGGCTCCACAGTGGGGAAGGGGCGCAGAAGTAGGAGGCAGAGGCAGGAGGTGAGCACAAGGTCTTTTATGAGGCATCAAATATACATTCTTATATACAAGGAGGAAAAAAGACAATGCCTGAACCCCAGCTCCTCTCCATACAGCCCCTCCCACTGCCACCCTCCCCCGCCCCCAAGCCCCAGTGGCCCTGGCCCTTCGTACAGCCAGGGTCCATCTGTCTGTCTATACTGCAGCCCATGGTGGAGAGGGGAGAGGGAGGCAGGAGCTGAGTGAGGAGCTGGATATGCGGGGCAAGAAGAGGAGCTGGGGCTTGTAAAAAATATATTTATAATAAATAAACAGGGCTGCAAAAGGGCTGGAGAGGCAGCGGAGATTCTGACGGACAGAAGGACTCAGGCATTCTGGCTCCCAACCCCAGCTCTGATGGCTTCAATCTCTGCCTCAGGAAGGATATCTTGGGCTCATGGTGGCCCTTTGGGAGCCTCTCTCCCCAGGGCTGATGCTGGGTGCCCCTGCCCCAGCGAGGTGTGTGTGGGTGATATCTGTAAAGTGCATTGTCTTCAGTTGTAGGTGGGGTAGGTGTAAGGGAATGGCGGGGGGGCATGCAATATGGGTGAGGGAGGGCAGTGCCCTTCTCATCCCAGACCTGAGCCCCCCCCAAAACCTGTCTGGACTTTGATCAGGATAAGAACGTTGCAGGGCGAGGCAAGTTCCTGAAGCCGAAGAGGTCTGGGCTGGGGCCTACTGGAGAAAGGGCATAGACTGGCTCGAGAGAGGAAGCACTGCCCCACGTGGGGCCAACACAAGCAGGGTCCCACCCACCAAGTGCATCAATGGTCCGTGTCCTCCAGCAGGCAAAAAGACACATGGAAGTGTGTGGCCAGGCCCTGAGGTCAGAGAGAGGGCCAAGCCAGCTGAAGTTTGGCCACAACTCTACAGAGCGCTCTCCTAGCCCCACACGGCCAGAGGAGCCCCAGGGAAGCCTTCACCCCGACAGCTCCGGACACCTGCCCTTCTCCGCCAGCCAGAGCTCACAGAGAGCTCACACAGGCCCAGAGGTCTGAGGCCACAGAGCTAGACCTCCAGGGAAAAGTGGGGAAGAAGAAGACGGGAGAAAGAGTACGAGGATCTCTGGAAGGCCCTCACCACTCCCCAGCGCTGGAGCACCCTGAGTCCAGGCTTCAAGTGGCAAGGATCCTCGAATCTGGAAGGAAACCCCATGGCAACTGCTGGGGGTGAGAGGACGGGTCCCAAGGCAGGGAGGACATGGGGAGGAGGACATTGCTATGTGTATATATATTTTTGAAAAAACCGAGGAAGCAAAGAGGGTGCAAGGTCCCTCTCCTGTGGCTCCCCAGACTTTCCTGTTCCCCAGCTCACTCTCTCCATTCATCAGACCACGGTGCTGATCCGGCTTGGCTTGGCCTTGGGGTTTGCACTGGGGGGGTTGGCTGTGCCAGGGGGCCCAGAGGCGTGCAGCGGGCCATGGGGGGAGGTGGGTGGAAGGGGTGAGTGCGGGGTGTGAGGGGAGGGTGGGGGGAGGGGTGGATAGGAGGGGTGGGGTGGGATGGGTGAGTGTGGTGACAATGGTGACTGGGGGTGGTGGGGGTGGGAGTAGGAGCCCCCTGGTGGCCGGGATCCAGGGCCCCCAGCCGCGCCTGCTGCTGGCATCATCTGTGGGTGGTGGCTGAAGATGAAGTGCTTAGGGCCCTGTTTGTGGGCTGGAGGGTGCTGGGGGGCAGGACTGTACAGGGGCAGTGGGGATGTGGGCTGGTGCAGGGGGTGGCGGCCATGTGGAGCAAACTGAGGGTGTCCTCCAGCCCCCCGTCTGGGTGCCCTGCCTGGCCGGCCCAAGGTATAGTGTTGGGGCCCTGGGACTGGGCCATGGGCGTGGAAGTGGCGATGTGGCCCCACAGGTGGGGCTGAGGCGGGAGGCGGTGGAATGGAGCCCAGCTGGGGCAAGGGTGGGGGCTGCTGGGGAGGTGGGGGAAGAGAGGGCTGCTGGGGTGGGAGGTAGGGTGGCGGGGCAGGGCCCGGTCCTTGGCAATACTGGGCATGCAGGGCCTGGAGCTTGGACTGCCCATCAGGCAGCACCCCCAGGCCACCGTGGCTATGGCCATGATGGTGGTGGTGGTGGTGGTGGTGCGTGGAAGAAGCAGATGAAGAGGAGGCAGAGGCCTGGCCTGTTGGCGGTGGTGGCATCTGGAAGGGCCCCTTGCCCCGCTTGCTTCCAAATAGGGAGCCCAGGAAGGATGAGGAGTTGGAGACGGGCCTCTGGCTCTTGTACTCCTCTGGCGGCGGGGGTGGGGGCGGAGGTGGCATCCTCTGGTGAGGGCGTGGACTGCTAATAACAGACCCCTGGAAGCGGGGAGGGGGGAAGTCAGGCCAGGCTAGATGCCCTAAACCCCCAGCCCTAAATTCCACCCCTGTCCCTGAGGGCTGGAGCTGGGGAGACAGCAAACCCCAAGTTGTAATAAAAACCAAATCACAGTCCGGTACGCGTATGTGGAGCTCCCCAGCTTGCAAAGCTCGGCTGTCACATCCACTATCTCAGCTGAGCCTCAGCTGGGAGAGGAGAAATTAGCAGTACCTCCTCCTCATCCCCATTTTGCAGGCAGGGAAAAGGTTAGGCCCAGAGAGGCAGAGTGACTCGCCCAGGGTCAAAGAGCAGGACTTGGAGGTAAGAGCTTCTCGTGGCCCAACTCCAAGGGCATCCCTACTCGCCGTCGGCCCTGGGGTTGAGAGGGGGCACGGGAGAGTGGAAGACAGACTGAGAGACAGGCAGAATGAGGACAGACAGAGTTGAGGACAGATGGAGAGAGTGGTTGGCTGGGAGAGGCAGCCGCATGGTTCCCAGCAGGGAAGAGGGGGAGCAACAGGTCCCCTCCTCCTCTGGGTCTCCATGGCCGGGGCAGGGCTCATGCAGAGGACGAGTGGGGCAGGAGCTGGCACTTACTTCGATGGTGCTGTCCAGCGATCCCACGCTGTTACGCCGCCCCCGCTTCCCTGCACCCACAAGCAAGGAGCCCAGCGTCAGAGCAGCAACCCCCCCCCTACCCTGCTGGGCTCCAGAGCTGGGCACCAGGACTGGGCCCCTCCCGGGGACAGACACCCCATTATCCCTTTCCCCCATTGAAGAGGGGGAGGCGGGGAGGAGGAGAGGTGGAGAAGGAGGAGAAAGAGGAGGAAAAGATGGAGAAGGAGGAGTGGAGGTACAGGAGAGACAGAAGAGGGAGAAGAGGAGGAGAGGGGGAGCAGCGAGAGAGAGGGACCAAGACTGTGGCCCCACTTCACACTCCCTGGCCCAAAAGCTGGGCTCCCCCTGCTCTGACCTGGCTCCCAGGCCCCCTGTGGCGCAGCGCCCAGGGCTCTGGGTGAAGGCAGGGTGCGTGCATGTGTGGCAGGTGGAGGGAAGGCTGGCGGCCAGTGACAGGAGGCAAAGAGGACACCCGGTCCCGTGTCTCCCCAGCCAGGGCAGGGGCCCAGAGGGCTTACCTGCATCAGAGAGGTCTCGCAGGGAACTGCTGAGTGCGCCCCGTTTGAGCCCATCGCCTGCCCCGTAAGTGTCCTCCAGGCTACTGCGGGCCATCGTCCCATTCACTGAGTCCTTGGCCCCTCCAGGCTGTGAGGCGTTAGGCCGCATCATACCTTTCTGCTTCTCCAGCTCCGCTGGGTGGCAGTCGGGGAGACAGGGAGCAAAGGTCAGGAACAGGAGTGAGAGCCCATCTGACTGACCCTAGCCCTCCATGGGCCATTCTCCTTCCTCCTCCCTCCTCCCTCCCTCTGTCCCCAGGCTTCGTGTTTTGCCCCTTGGACGACCAGCCCTTGTCTCCCCCAAAACTGCAGCTCCATCACCGAAGCACCCTT
|
GGGTGACTCTCCCGAATTCACATGCCTAGGAAGTGAAAACCCCAGGATGTGAACTGGATCAACTCCAAAGCCCATACTCTTGCCACTCTGTCGCACAAACTGTGTATGAAATGAGATAGGAAAACCTCCCTCACTCCCACCTCCCTCCAAGCAAAGCATCTCGTCCACCCAGGTGCCTGAATTTCTACCATTAGCGCATTGCCTCCCTGGGCTAAGGCCTCTCTCCATGGGCTCCACAGTGGGGAAGGGGCGCAGAAGTAGGAGGCAGAGGCAGGAGGTGAGCACAAGGTCTTTTATGAGGCATCAAATATACATTCTTATATACAAGGAGGAAAAAAGACAATGCCTGAACCCCAGCTCCTCTCCATACAGCCCCTCCCACTGCCACCCTCCCCCGCCCCCAAGCCCCAGTGGCCCTGGCCCTTCGTACAGCCAGGGTCCATCTGTCTGTCTATACTGCAGCCCATGGTGGAGAGGGGAGAGGGAGGCAGGAGCTGAGTGAGGAGCTGGATATGCGGGGCAAGAAGAGGAGCTGGGGCTTGTAAAAAATATATTTATAATAAATAAACAGGGCTGCAAAAGGGCTGGAGAGGCAGCGGAGATTCTGACGGACAGAAGGACTCAGGCATTCTGGCTCCCAACCCCAGCTCTGATGGCTTCAATCTCTGCCTCAGGAAGGATATCTTGGGCTCATGGTGGCCCTTTGGGAGCCTCTCTCCCCAGGGCTGATGCTGGGTGCCCCTGCCCCAGCGAGGTGTGTGTGGGTGATATCTGTAAAGTGCATTGTCTTCAGTTGTAGGTGGGGTAGGTGTAAGGGAATGGCGGGGGGGCATGCAATATGGGTGAGGGAGGGCAGTGCCCTTCTCATCCCAGACCTGAGCCCCCCCCAAAACCTGTCTGGACTTTGATCAGGATAAGAACGTTGCAGGGCGAGGCAAGTTCCTGAAGCCGAAGAGGTCTGGGCTGGGGCCTACTGGAGAAAGGGCATAGACTGGCTCGAGAGAGGAAGCACTGCCCCACGTGGGGCCAACACAAGCAGGGTCCCACCCACCAAGTGCATCAATGGTCCGTGTCCTCCAGCAGGCAAAAAGACACATGGAAGTGTGTGGCCAGGCCCTGAGGTCAGAGAGAGGGCCAAGCCAGCTGAAGTTTGGCCACAACTCTACAGAGCGCTCTCCTAGCCCCACACGGCCAGAGGAGCCCCAGGGAAGCCTTCACCCCGACAGCTCCGGACACCTGCCCTTCTCCGCCAGCCAGAGCTCACAGAGAGCTCACACAGGCCCAGAGGTCTGAGGCCACAGAGCTAGACCTCCAGGGAAAAGTGGGGAAGAAGAAGACGGGAGAAAGAGTACGAGGATCTCTGGAAGGCCCTCACCACTCCCCAGCGCTGGAGCACCCTGAGTCCAGGCTTCAAGTGGCAAGGATCCTCGAATCTGGAAGGAAACCCCATGGCAACTGCTGGGGGTGAGAGGACGGGTCCCAAGGCAGGGAGGACATGGGGAGGAGGACATTGCTATGTGTATATATATTTTTGAAAAAACCGAGGAAGCAAAGAGGGTGCAAGGTCCCTCTCCTGTGGCTCCCCAGACTTTCCTGTTCCCCAGCTCACTCTCTCCATTCATCAGACCACGGTGCTGATCCGGCTTGGCTTGGCCTTGGGGTTTGCACTGGGGGGGTTGGCTGTGCCAGGGGGCCCAGAGGCGTGCAGCGGGCCATGGGGGGAGGTGGGTGGAAGGGGTGAGTGCGGGGTGTGAGGGGAGGGTGGGGGGAGGGGTGGATAGGAGGGGTGGGGTGGGATGGGTGAGTGTGGTGACAATGGTGACTGGGGGTGGTGGGGGTGGGAGTAGGAGCCCCCTGGTGGCCGGGATCCAGGGCCCCCAGCCGCGCCTGCTGCTGGCATCATCTGTGGGTGGTGGCTGAAGATGAAGTGCTTAGGGCCCTGTTTGTGGGCTGGAGGGTGCTGGGGGGCAGGACTGTACAGGGGCAGTGGGGATGTGGGCTGGTGCAGGGGGTGGCGGCCATGTGGAGCAAACTGAGGGTGTCCTCCAGCCCCCCCGTCTGGGTGCCCTGCCTGGCCGGCCCAAGGTATAGTGTTGGGGCCCTGGGACTGGGCCATGGGCGTGGAAGTGGCGATGTGGCCCCACAGGTGGGGCTGAGGCGGGAGGCGGTGGAATGGAGCCCAGCTGGGGCAAGGGTGGGGGCTGCTGGGGAGGTGGGGGAAGAGAGGGCTGCTGGGGTGGGAGGTAGGGTGGCGGGGCAGGGCCCGGTCCTTGGCAATACTGGGCATGCAGGGCCTGGAGCTTGGACTGCCCATCAGGCAGCACCCCCAGGCCACCGTGGCTATGGCCATGATGGTGGTGGTGGTGGTGGTGGTGCGTGGAAGAAGCAGATGAAGAGGAGGCAGAGGCCTGGCCTGTTGGCGGTGGTGGCATCTGGAAGGGCCCCTTGCCCCGCTTGCTTCCAAATAGGGAGCCCAGGAAGGATGAGGAGTTGGAGACGGGCCTCTGGCTCTTGTACTCCTCTGGCGGCGGGGGTGGGGGCGGAGGTGGCATCCTCTGGTGAGGGCGTGGACTGCTAATAACAGACCCCTGGAAGCGGGGAGGGGGGAAGTCAGGCCAGGCTAGATGCCCTAAACCCCCAGCCCTAAATTCCACCCCTGTCCCTGAGGGCTGGAGCTGGGGAGACAGCAAACCCCAAGTTGTAATAAAAACCAAATCACAGTCCGGTACGCGTATGTGGAGCTCCCCAGCTTGCAAAGCTCGGCTGTCACATCCACTATCTCAGCTGAGCCTCAGCTGGGAGAGGAGAAATTAGCAGTACCTCCTCCTCATCCCCATTTTGCAGGCAGGGAAAAGGTTAGGCCCAGAGAGGCAGAGTGACTCGCCCAGGGTCAAAGAGCAGGACTTGGAGGTAAGAGCTTCTCGTGGCCCAACTCCAAGGGCATCCCTACTCGCCGTCGGCCCTGGGGTTGAGAGGGGGCACGGGAGAGTGGAAGACAGACTGAGAGACAGGCAGAATGAGGACAGACAGAGTTGAGGACAGATGGAGAGAGTGGTTGGCTGGGAGAGGCAGCCGCATGGTTCCCAGCAGGGAAGAGGGGGAGCAACAGGTCCCCTCCTCCTCTGGGTCTCCATGGCCGGGGCAGGGCTCATGCAGAGGACGAGTGGGGCAGGAGCTGGCACTTACTTCGATGGTGCTGTCCAGCGATCCCACGCTGTTACGCCGCCCCCGCTTCCCTGCACCCACAAGCAAGGAGCCCAGCGTCAGAGCAGCAACCCCCCCCCTACCCTGCTGGGCTCCAGAGCTGGGCACCAGGACTGGGCCCCTCCCGGGGACAGACACCCCATTATCCCTTTCCCCCATTGAAGAGGGGGAGGCGGGGAGGAGGAGAGGTGGAGAAGGAGGAGAAAGAGGAGGAAAAGATGGAGAAGGAGGAGTGGAGGTACAGGAGAGACAGAAGAGGGAGAAGAGGAGGAGAGGGGGAGCAGCGAGAGAGAGGGACCAAGACTGTGGCCCCACTTCACACTCCCTGGCCCAAAAGCTGGGCTCCCCCTGCTCTGACCTGGCTCCCAGGCCCCCTGTGGCGCAGCGCCCAGGGCTCTGGGTGAAGGCAGGGTGCGTGCATGTGTGGCAGGTGGAGGGAAGGCTGGCGGCCAGTGACAGGAGGCAAAGAGGACACCCGGTCCCGTGTCTCCCCAGCCAGGGCAGGGGCCCAGAGGGCTTACCTGCATCAGAGAGGTCTCGCAGGGAACTGCTGAGTGCGCCCCGTTTGAGCCCATCGCCTGCCCCGTAAGTGTCCTCCAGGCTACTGCGGGCCATCGTCCCATTCACTGAGTCCTTGGCCCCTCCAGGCTGTGAGGCGTTAGGCCGCATCATACCTTTCTGCTTCTCCAGCTCCGCTGGGTGGCAGTCGGGGAGACAGGGAGCAAAGGTCAGGAACAGGAGTGAGAGCCCATCTGACTGACCCTAGCCCTCCATGGGCCATTCTCCTTCCTCCTCCCTCCTCCCTCCCTCTGTCCCCAGGCTTCGTGTTTTGCCCCTTGGACGACCAGCCCTTGTCTCCCCCAAAACTGCAGCTCCATCACCGAAGCACCCT
|
pathogenic
| 334,506 |
Evaluate if the mutation on chromosome X at position 53234810 in IQSEC2 (IQ motif and Sec7 domain ArfGEF 2) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Intellectual_disability,_X-linked_1']
|
CCACCCAGGTGCCTGAATTTCTACCATTAGCGCATTGCCTCCCTGGGCTAAGGCCTCTCTCCATGGGCTCCACAGTGGGGAAGGGGCGCAGAAGTAGGAGGCAGAGGCAGGAGGTGAGCACAAGGTCTTTTATGAGGCATCAAATATACATTCTTATATACAAGGAGGAAAAAAGACAATGCCTGAACCCCAGCTCCTCTCCATACAGCCCCTCCCACTGCCACCCTCCCCCGCCCCCAAGCCCCAGTGGCCCTGGCCCTTCGTACAGCCAGGGTCCATCTGTCTGTCTATACTGCAGCCCATGGTGGAGAGGGGAGAGGGAGGCAGGAGCTGAGTGAGGAGCTGGATATGCGGGGCAAGAAGAGGAGCTGGGGCTTGTAAAAAATATATTTATAATAAATAAACAGGGCTGCAAAAGGGCTGGAGAGGCAGCGGAGATTCTGACGGACAGAAGGACTCAGGCATTCTGGCTCCCAACCCCAGCTCTGATGGCTTCAATCTCTGCCTCAGGAAGGATATCTTGGGCTCATGGTGGCCCTTTGGGAGCCTCTCTCCCCAGGGCTGATGCTGGGTGCCCCTGCCCCAGCGAGGTGTGTGTGGGTGATATCTGTAAAGTGCATTGTCTTCAGTTGTAGGTGGGGTAGGTGTAAGGGAATGGCGGGGGGGCATGCAATATGGGTGAGGGAGGGCAGTGCCCTTCTCATCCCAGACCTGAGCCCCCCCCAAAACCTGTCTGGACTTTGATCAGGATAAGAACGTTGCAGGGCGAGGCAAGTTCCTGAAGCCGAAGAGGTCTGGGCTGGGGCCTACTGGAGAAAGGGCATAGACTGGCTCGAGAGAGGAAGCACTGCCCCACGTGGGGCCAACACAAGCAGGGTCCCACCCACCAAGTGCATCAATGGTCCGTGTCCTCCAGCAGGCAAAAAGACACATGGAAGTGTGTGGCCAGGCCCTGAGGTCAGAGAGAGGGCCAAGCCAGCTGAAGTTTGGCCACAACTCTACAGAGCGCTCTCCTAGCCCCACACGGCCAGAGGAGCCCCAGGGAAGCCTTCACCCCGACAGCTCCGGACACCTGCCCTTCTCCGCCAGCCAGAGCTCACAGAGAGCTCACACAGGCCCAGAGGTCTGAGGCCACAGAGCTAGACCTCCAGGGAAAAGTGGGGAAGAAGAAGACGGGAGAAAGAGTACGAGGATCTCTGGAAGGCCCTCACCACTCCCCAGCGCTGGAGCACCCTGAGTCCAGGCTTCAAGTGGCAAGGATCCTCGAATCTGGAAGGAAACCCCATGGCAACTGCTGGGGGTGAGAGGACGGGTCCCAAGGCAGGGAGGACATGGGGAGGAGGACATTGCTATGTGTATATATATTTTTGAAAAAACCGAGGAAGCAAAGAGGGTGCAAGGTCCCTCTCCTGTGGCTCCCCAGACTTTCCTGTTCCCCAGCTCACTCTCTCCATTCATCAGACCACGGTGCTGATCCGGCTTGGCTTGGCCTTGGGGTTTGCACTGGGGGGGTTGGCTGTGCCAGGGGGCCCAGAGGCGTGCAGCGGGCCATGGGGGGAGGTGGGTGGAAGGGGTGAGTGCGGGGTGTGAGGGGAGGGTGGGGGGAGGGGTGGATAGGAGGGGTGGGGTGGGATGGGTGAGTGTGGTGACAATGGTGACTGGGGGTGGTGGGGGTGGGAGTAGGAGCCCCCTGGTGGCCGGGATCCAGGGCCCCCAGCCGCGCCTGCTGCTGGCATCATCTGTGGGTGGTGGCTGAAGATGAAGTGCTTAGGGCCCTGTTTGTGGGCTGGAGGGTGCTGGGGGGCAGGACTGTACAGGGGCAGTGGGGATGTGGGCTGGTGCAGGGGGTGGCGGCCATGTGGAGCAAACTGAGGGTGTCCTCCAGCCCCCCGTCTGGGTGCCCTGCCTGGCCGGCCCAAGGTATAGTGTTGGGGCCCTGGGACTGGGCCATGGGCGTGGAAGTGGCGATGTGGCCCCACAGGTGGGGCTGAGGCGGGAGGCGGTGGAATGGAGCCCAGCTGGGGCAAGGGTGGGGGCTGCTGGGGAGGTGGGGGAAGAGAGGGCTGCTGGGGTGGGAGGTAGGGTGGCGGGGCAGGGCCCGGTCCTTGGCAATACTGGGCATGCAGGGCCTGGAGCTTGGACTGCCCATCAGGCAGCACCCCCAGGCCACCGTGGCTATGGCCATGATGGTGGTGGTGGTGGTGGTGGTGCGTGGAAGAAGCAGATGAAGAGGAGGCAGAGGCCTGGCCTGTTGGCGGTGGTGGCATCTGGAAGGGCCCCTTGCCCCGCTTGCTTCCAAATAGGGAGCCCAGGAAGGATGAGGAGTTGGAGACGGGCCTCTGGCTCTTGTACTCCTCTGGCGGCGGGGGTGGGGGCGGAGGTGGCATCCTCTGGTGAGGGCGTGGACTGCTAATAACAGACCCCTGGAAGCGGGGAGGGGGGAAGTCAGGCCAGGCTAGATGCCCTAAACCCCCAGCCCTAAATTCCACCCCTGTCCCTGAGGGCTGGAGCTGGGGAGACAGCAAACCCCAAGTTGTAATAAAAACCAAATCACAGTCCGGTACGCGTATGTGGAGCTCCCCAGCTTGCAAAGCTCGGCTGTCACATCCACTATCTCAGCTGAGCCTCAGCTGGGAGAGGAGAAATTAGCAGTACCTCCTCCTCATCCCCATTTTGCAGGCAGGGAAAAGGTTAGGCCCAGAGAGGCAGAGTGACTCGCCCAGGGTCAAAGAGCAGGACTTGGAGGTAAGAGCTTCTCGTGGCCCAACTCCAAGGGCATCCCTACTCGCCGTCGGCCCTGGGGTTGAGAGGGGGCACGGGAGAGTGGAAGACAGACTGAGAGACAGGCAGAATGAGGACAGACAGAGTTGAGGACAGATGGAGAGAGTGGTTGGCTGGGAGAGGCAGCCGCATGGTTCCCAGCAGGGAAGAGGGGGAGCAACAGGTCCCCTCCTCCTCTGGGTCTCCATGGCCGGGGCAGGGCTCATGCAGAGGACGAGTGGGGCAGGAGCTGGCACTTACTTCGATGGTGCTGTCCAGCGATCCCACGCTGTTACGCCGCCCCCGCTTCCCTGCACCCACAAGCAAGGAGCCCAGCGTCAGAGCAGCAACCCCCCCCCTACCCTGCTGGGCTCCAGAGCTGGGCACCAGGACTGGGCCCCTCCCGGGGACAGACACCCCATTATCCCTTTCCCCCATTGAAGAGGGGGAGGCGGGGAGGAGGAGAGGTGGAGAAGGAGGAGAAAGAGGAGGAAAAGATGGAGAAGGAGGAGTGGAGGTACAGGAGAGACAGAAGAGGGAGAAGAGGAGGAGAGGGGGAGCAGCGAGAGAGAGGGACCAAGACTGTGGCCCCACTTCACACTCCCTGGCCCAAAAGCTGGGCTCCCCCTGCTCTGACCTGGCTCCCAGGCCCCCTGTGGCGCAGCGCCCAGGGCTCTGGGTGAAGGCAGGGTGCGTGCATGTGTGGCAGGTGGAGGGAAGGCTGGCGGCCAGTGACAGGAGGCAAAGAGGACACCCGGTCCCGTGTCTCCCCAGCCAGGGCAGGGGCCCAGAGGGCTTACCTGCATCAGAGAGGTCTCGCAGGGAACTGCTGAGTGCGCCCCGTTTGAGCCCATCGCCTGCCCCGTAAGTGTCCTCCAGGCTACTGCGGGCCATCGTCCCATTCACTGAGTCCTTGGCCCCTCCAGGCTGTGAGGCGTTAGGCCGCATCATACCTTTCTGCTTCTCCAGCTCCGCTGGGTGGCAGTCGGGGAGACAGGGAGCAAAGGTCAGGAACAGGAGTGAGAGCCCATCTGACTGACCCTAGCCCTCCATGGGCCATTCTCCTTCCTCCTCCCTCCTCCCTCCCTCTGTCCCCAGGCTTCGTGTTTTGCCCCTTGGACGACCAGCCCTTGTCTCCCCCAAAACTGCAGCTCCATCACCGAAGCACCCTTAGTGCCCAGCTCCTGTCTTGCACCCTCCCTTCCTGCTCAGCCTTCCCTTCATCCCTCTTGGTGCCTGCTCTCCCTGTTCCCTTTCCCTTCCTTTCACCCTTCTGACTTCTCCCCTCCCATGCCCTCTTGCAATCAGGTCTCCCAAAGCACCCCTGCCCTTCAAA
|
CCACCCAGGTGCCTGAATTTCTACCATTAGCGCATTGCCTCCCTGGGCTAAGGCCTCTCTCCATGGGCTCCACAGTGGGGAAGGGGCGCAGAAGTAGGAGGCAGAGGCAGGAGGTGAGCACAAGGTCTTTTATGAGGCATCAAATATACATTCTTATATACAAGGAGGAAAAAAGACAATGCCTGAACCCCAGCTCCTCTCCATACAGCCCCTCCCACTGCCACCCTCCCCCGCCCCCAAGCCCCAGTGGCCCTGGCCCTTCGTACAGCCAGGGTCCATCTGTCTGTCTATACTGCAGCCCATGGTGGAGAGGGGAGAGGGAGGCAGGAGCTGAGTGAGGAGCTGGATATGCGGGGCAAGAAGAGGAGCTGGGGCTTGTAAAAAATATATTTATAATAAATAAACAGGGCTGCAAAAGGGCTGGAGAGGCAGCGGAGATTCTGACGGACAGAAGGACTCAGGCATTCTGGCTCCCAACCCCAGCTCTGATGGCTTCAATCTCTGCCTCAGGAAGGATATCTTGGGCTCATGGTGGCCCTTTGGGAGCCTCTCTCCCCAGGGCTGATGCTGGGTGCCCCTGCCCCAGCGAGGTGTGTGTGGGTGATATCTGTAAAGTGCATTGTCTTCAGTTGTAGGTGGGGTAGGTGTAAGGGAATGGCGGGGGGGCATGCAATATGGGTGAGGGAGGGCAGTGCCCTTCTCATCCCAGACCTGAGCCCCCCCCAAAACCTGTCTGGACTTTGATCAGGATAAGAACGTTGCAGGGCGAGGCAAGTTCCTGAAGCCGAAGAGGTCTGGGCTGGGGCCTACTGGAGAAAGGGCATAGACTGGCTCGAGAGAGGAAGCACTGCCCCACGTGGGGCCAACACAAGCAGGGTCCCACCCACCAAGTGCATCAATGGTCCGTGTCCTCCAGCAGGCAAAAAGACACATGGAAGTGTGTGGCCAGGCCCTGAGGTCAGAGAGAGGGCCAAGCCAGCTGAAGTTTGGCCACAACTCTACAGAGCGCTCTCCTAGCCCCACACGGCCAGAGGAGCCCCAGGGAAGCCTTCACCCCGACAGCTCCGGACACCTGCCCTTCTCCGCCAGCCAGAGCTCACAGAGAGCTCACACAGGCCCAGAGGTCTGAGGCCACAGAGCTAGACCTCCAGGGAAAAGTGGGGAAGAAGAAGACGGGAGAAAGAGTACGAGGATCTCTGGAAGGCCCTCACCACTCCCCAGCGCTGGAGCACCCTGAGTCCAGGCTTCAAGTGGCAAGGATCCTCGAATCTGGAAGGAAACCCCATGGCAACTGCTGGGGGTGAGAGGACGGGTCCCAAGGCAGGGAGGACATGGGGAGGAGGACATTGCTATGTGTATATATATTTTTGAAAAAACCGAGGAAGCAAAGAGGGTGCAAGGTCCCTCTCCTGTGGCTCCCCAGACTTTCCTGTTCCCCAGCTCACTCTCTCCATTCATCAGACCACGGTGCTGATCCGGCTTGGCTTGGCCTTGGGGTTTGCACTGGGGGGGTTGGCTGTGCCAGGGGGCCCAGAGGCGTGCAGCGGGCCATGGGGGGAGGTGGGTGGAAGGGGTGAGTGCGGGGTGTGAGGGGAGGGTGGGGGGAGGGGTGGATAGGAGGGGTGGGGTGGGATGGGTGAGTGTGGTGACAATGGTGACTGGGGGTGGTGGGGGTGGGAGTAGGAGCCCCCTGGTGGCCGGGATCCAGGGCCCCCAGCCGCGCCTGCTGCTGGCATCATCTGTGGGTGGTGGCTGAAGATGAAGTGCTTAGGGCCCTGTTTGTGGGCTGGAGGGTGCTGGGGGGCAGGACTGTACAGGGGCAGTGGGGATGTGGGCTGGTGCAGGGGGTGGCGGCCATGTGGAGCAAACTGAGGGTGTCCTCCAGCCCCCCGTCTGGGTGCCCTGCCTGGCCGGCCCAAGGTATAGTGTTGGGGCCCTGGGACTGGGCCATGGGCGTGGAAGTGGCGATGTGGCCCCACAGGTGGGGCTGAGGCGGGAGGCGGTGGAATGGAGCCCAGCTGGGGCAAGGGTGGGGGCTGCTGGGGAGGTGGGGAAGAGAGGGCTGCTGGGGTGGGAGGTAGGGTGGCGGGGCAGGGCCCGGTCCTTGGCAATACTGGGCATGCAGGGCCTGGAGCTTGGACTGCCCATCAGGCAGCACCCCCAGGCCACCGTGGCTATGGCCATGATGGTGGTGGTGGTGGTGGTGGTGCGTGGAAGAAGCAGATGAAGAGGAGGCAGAGGCCTGGCCTGTTGGCGGTGGTGGCATCTGGAAGGGCCCCTTGCCCCGCTTGCTTCCAAATAGGGAGCCCAGGAAGGATGAGGAGTTGGAGACGGGCCTCTGGCTCTTGTACTCCTCTGGCGGCGGGGGTGGGGGCGGAGGTGGCATCCTCTGGTGAGGGCGTGGACTGCTAATAACAGACCCCTGGAAGCGGGGAGGGGGGAAGTCAGGCCAGGCTAGATGCCCTAAACCCCCAGCCCTAAATTCCACCCCTGTCCCTGAGGGCTGGAGCTGGGGAGACAGCAAACCCCAAGTTGTAATAAAAACCAAATCACAGTCCGGTACGCGTATGTGGAGCTCCCCAGCTTGCAAAGCTCGGCTGTCACATCCACTATCTCAGCTGAGCCTCAGCTGGGAGAGGAGAAATTAGCAGTACCTCCTCCTCATCCCCATTTTGCAGGCAGGGAAAAGGTTAGGCCCAGAGAGGCAGAGTGACTCGCCCAGGGTCAAAGAGCAGGACTTGGAGGTAAGAGCTTCTCGTGGCCCAACTCCAAGGGCATCCCTACTCGCCGTCGGCCCTGGGGTTGAGAGGGGGCACGGGAGAGTGGAAGACAGACTGAGAGACAGGCAGAATGAGGACAGACAGAGTTGAGGACAGATGGAGAGAGTGGTTGGCTGGGAGAGGCAGCCGCATGGTTCCCAGCAGGGAAGAGGGGGAGCAACAGGTCCCCTCCTCCTCTGGGTCTCCATGGCCGGGGCAGGGCTCATGCAGAGGACGAGTGGGGCAGGAGCTGGCACTTACTTCGATGGTGCTGTCCAGCGATCCCACGCTGTTACGCCGCCCCCGCTTCCCTGCACCCACAAGCAAGGAGCCCAGCGTCAGAGCAGCAACCCCCCCCCTACCCTGCTGGGCTCCAGAGCTGGGCACCAGGACTGGGCCCCTCCCGGGGACAGACACCCCATTATCCCTTTCCCCCATTGAAGAGGGGGAGGCGGGGAGGAGGAGAGGTGGAGAAGGAGGAGAAAGAGGAGGAAAAGATGGAGAAGGAGGAGTGGAGGTACAGGAGAGACAGAAGAGGGAGAAGAGGAGGAGAGGGGGAGCAGCGAGAGAGAGGGACCAAGACTGTGGCCCCACTTCACACTCCCTGGCCCAAAAGCTGGGCTCCCCCTGCTCTGACCTGGCTCCCAGGCCCCCTGTGGCGCAGCGCCCAGGGCTCTGGGTGAAGGCAGGGTGCGTGCATGTGTGGCAGGTGGAGGGAAGGCTGGCGGCCAGTGACAGGAGGCAAAGAGGACACCCGGTCCCGTGTCTCCCCAGCCAGGGCAGGGGCCCAGAGGGCTTACCTGCATCAGAGAGGTCTCGCAGGGAACTGCTGAGTGCGCCCCGTTTGAGCCCATCGCCTGCCCCGTAAGTGTCCTCCAGGCTACTGCGGGCCATCGTCCCATTCACTGAGTCCTTGGCCCCTCCAGGCTGTGAGGCGTTAGGCCGCATCATACCTTTCTGCTTCTCCAGCTCCGCTGGGTGGCAGTCGGGGAGACAGGGAGCAAAGGTCAGGAACAGGAGTGAGAGCCCATCTGACTGACCCTAGCCCTCCATGGGCCATTCTCCTTCCTCCTCCCTCCTCCCTCCCTCTGTCCCCAGGCTTCGTGTTTTGCCCCTTGGACGACCAGCCCTTGTCTCCCCCAAAACTGCAGCTCCATCACCGAAGCACCCTTAGTGCCCAGCTCCTGTCTTGCACCCTCCCTTCCTGCTCAGCCTTCCCTTCATCCCTCTTGGTGCCTGCTCTCCCTGTTCCCTTTCCCTTCCTTTCACCCTTCTGACTTCTCCCCTCCCATGCCCTCTTGCAATCAGGTCTCCCAAAGCACCCCTGCCCTTCAAAN
|
pathogenic
| 334,511 |
Variant chromosome X, position 53250899, gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2): benign or pathogenic? Disease(s)?
|
pathogenic; ['Intellectual_disability,_X-linked_1']
|
CGATCAGATACTGGATACCCTTCTCTGGCTTCCTGCAGAAAGAGGAGAGGTAGATGAGATGACTGTCCTCCTGGAACTGTGCTCTCTGTCTCATTTGTTGAACTAATTTTGGGCCCAACTAAGTCCGGCCTCAGAGGACCAACGAAGTCAAATACATAATTTGATCCAATCCCATCATGGCACAAGTGAGAAAACTGAGGCCCAGGGAGAAGAAGCCACTTGCCCATTTCAAGGAGCTTCAAAATCCCAAGGTATCTTCAACCCAACATCCCCCTTCACTGGAGCCACATCACAATTGAAAGAAAATCAGTATCTAATGAGAGCCTGCTCTATGCCAGGCTTGACATTCCCAGCAAGAACCGAGGAGAGGGCTGAGCACCTTCCCTCTGAGTCACAGACCCTCAGAGTAGGGAAGAAGTGAAGAGGTTACTTTGTTCCACGTCCCACATCCCACTCAGGCAGGTATCACCAACTTTCTCTGAGTGTTTCTGTAGACAAGGTGCCCCCTAGATTTCCAGGGAGCTGGGCCAAAATCTGGGTCACAGCTATCCCATATTCAGAACCCCAGAACCTTAGGACCCCACAAGGTTAAAATTTGGAAGGGACTGATGCCATAGGAGTCTCAGATCCATCACTTCCCAGTTGTATGACTTTGGACAATTCCTTTTGCTTCTCCAAGCCTTGGTTCCTTATCTACAAAATAGGAACACTACTGCCTGCCTTGCTGAGTTATTGTAAGAATTAAATATAGGTGGCAGTGTTTAATAAGCTATAAAGATGTAAGGCATTCAAGTAATGGCTTCCAATTACATCTAATGTTTTCCAATTACATCTAATATTTTCCAATTATTTTCTAATCAAATGTCACACTCCCACCTCACTCCTAAACACCTGGCAGAAGACCAGGCACCTAGAAAGAGCTTAGTCACAGTCACTGAAGGGTCCAGCACACCACCCTGCCCCCAACACCTCTTACATACACATTCTGCTAGTGGTAGGTGGAAAAATGGAAGCCCAGGGGAGGAATGCACCTTGCCCAGGGCTATGCAGTGAGTCTAGCCAAAGGCCGACTGAGGGGGCCAGGTCTCCTGTTTCCCAGACTAGGGCTCTTTCTACACCATATCACCTCCCCTCTAAAAAGGGAAGGTGGGGAGGACAAGGTTCAGAATCCATTTAGTGGGGTCATCTCACCCAAGATCAGACAGCCAGCCAGGGGCAGTACTGGGACCCGAGCCCAGGTGTGTTAAGGGACTCTCTACTCTGCCACCCTGTTGCCAATCCTCTTCCCTGAATGTCTGGGGAGAAATACCATTCCACAAAATGAAAGGATGGCAGAACGGGGATCACTGTGTGGAGTTCTGTCCCAGGAACCCAAGTGCATGTGGCAGGGTAGGAAGGGGTAAGCAGGCTAGAACGGGGAGCACGCACTTGTTGAAGAGGTTGAGGCCGATTCGGTAGTGCCGCCTCTGGACCACATCATTGTTGAAAGCTGGCGAGTCCCAGCTATGCCTTGTCTCCCGCTGGTAAGTCTGCTTGCACAGGCCGGTAGCCGGAGGCTCCCTTAGACTGTCCCGAGAAGAGGAGCCGGAGCTGCAGTTGATGGTCTCATTGGAATTGCTGGAGCTCTCAAGGCTCTCGTTATCTCCACCATCAGAGTTCTCGCCTGCTGCCTCGCACTTCCCCAACCTCCGACCCCCAGCCACACCACTGGGCCCAGTGCCACTGTTGGGGGCTGGTGGCAGGGGCCCTGGTGGGGCTGGGGCTGGGCCTTCAGGGGCTGGGTAGTGGCGGTGTGGGATCGGGGCCCTGCCTGGTGGCCCCTTGTGCTTCAGGGTCCCATGGGGGCTGCAGCCATCAGCCTCATACACCAGCTGGCGGTGGACAGAGCCGCGATCTGAGCGGTCACTCAGGTCCACGGAGCTGTCACTAGGAGGCTCAATGGTAAGCAGGGGAAGGTGGGCAGCCCGCAGCCGGAAATCCCGGCACTCCAAGCACCCGGGACCCCTGCGAGTGCCTTCCTCACGGCTACCGTCTTCCCGGGTTCCTGATGGCACTGGTGGAGGAACTGGCGGGAGAGGGGCTGGCGCCCAGAACTCGGGCCGGCCCTGGGGTGGGGGTTCTGTGCTGGGCAGTCGCTCAGGGGATTGTTGGGGAACTGTGTCATCCAGGTAGAGGGGAAGATCACTGAAGGATGTGGCTGAGCTGTCCTCTTGCTGTTCCTTTGACTCCCGCTTCTCCAGCTGGGCTGACCCTGGCTCCTCAGACATGGGCCCTGACGGGTGGCAGTTCAGGGCTTCGTCGATGGATTCAGCCAGAGACTTTACCTGTGCAAGGGGGGGAGGAGAGGAGGGAAAGGGAGAGAAAAGAAAGAAAGATAAAGGGAAGAATGGTGGAAGGTGGGAATGAGGGAGGGAGGTAAGGAAAAAGGGGGAGTCTTCCTGGTAGGTCAGCAAGGAGGGTGGATTCCCCTCCCCCAGCCCTGACAGGCTCTCTGTGGTCTGTAAAATGACTCCCAGGGAACCATTGTGAGCTCACAGGAGCTGAGACTAATGCCCACAAGTTCCCCACTCAGCTCACACCCCAATACCTCCTTTGTGTCCATTTAGACTCAAGCCAAACGTTACCTCCTCCCTGATTCAAGCCACATTCTTGCCTCTGCCATCCCCCAGAGTAAACCAAAATCCCAGTTTCCTCTGTGGGAATTCTCTTAGGAAATCCATAACATTTGACCTTGAGCATCTGGACCACAGCTGGTAATGCTCTCTCCCTGTGGTATCCAGACTCTAAACTGGCCGCTAATGATCCCTGCCTCCTGGTATTCACACCCTAGGGTACCACATTGTACCAGAGTTAGTCTGTGTGACAAACAGCATATGGCAGAAGCGAATGTATGTCACTTCTGAAATTAGGTTTTAAAAGACTGCAGAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCCCTTGAGCCCAGGAGTTCAAGAGCAGCCTGGGCAACATGGCGAGACTCTATCTCTACAAAAAATAAAAACATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTCAGGAGAGTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCTATGATCACGCCACTACACTCCAGCCTGGCAACAGAGCAAGATACTGTCTCTAAAATTTTTATTTGTTTGTTTGAGACAGAGTCTTGCTCTCACCCAGGCTGGAGTGCAGTGGCACGATCTCACCTCACTGCAACCTGCACCTCCCAGGTTCAAGCGATTCTCCTTCCTCAGCCTCCCCAGTAGCAGGGATTACAGGTGCGCACCACCATGTTTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGATGGACAGGCTGGTCTCAAACTCCTGACCTCAGGTGACCTGCCCACCTTGGCCTCCCGAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCCAAAAAAAATTTATTAAAAAAAAAAAAAAAAACTGCAAAACATTTTTTAAAAATTTAAAACATTAAAAAAAATTTTTTTAATGACTGCAGCTTGCATCTTGAGCACTCTTGGTCGCTTGTCACTTGTACTATTTCTCTCAGACCCCCCAACCTGGGGAAAGCCGCATCACGAACAGTCCTATGGAGAGGCCCACAGGGTGAGGCATTGAATCCTCCTGCCAACAGCCAAGTGGGTGAGCTTGAAAGCAGACTGCCAGCCCCAGTCTAATCTTCAGATATTGCGGGCTCTCCCTACAGCTTGACCGCAGCCTCATGAAAGGCCCTGAACCAGAACCACTCAGCCATGCCATTCCCAGCTTCCTGGCACCCAGAAACTGTATGAAATAATAAATGTTTATTGTTTAGGCTCACTCTCTTGGGTCAGTTTTAAGCTACCAAATTTGGGGGTAATTTGTTACACAGCAACAGATAACAGATATACTTCCCCATCAGACTTCAATAGCACTCAGAGCTGGGACCAGACCTGCTTCCCAGACTGATCTCCTATTTCCCATTCCTCCCTTGAGGGAGGGATCCAGGCCTGGTTT
|
CGATCAGATACTGGATACCCTTCTCTGGCTTCCTGCAGAAAGAGGAGAGGTAGATGAGATGACTGTCCTCCTGGAACTGTGCTCTCTGTCTCATTTGTTGAACTAATTTTGGGCCCAACTAAGTCCGGCCTCAGAGGACCAACGAAGTCAAATACATAATTTGATCCAATCCCATCATGGCACAAGTGAGAAAACTGAGGCCCAGGGAGAAGAAGCCACTTGCCCATTTCAAGGAGCTTCAAAATCCCAAGGTATCTTCAACCCAACATCCCCCTTCACTGGAGCCACATCACAATTGAAAGAAAATCAGTATCTAATGAGAGCCTGCTCTATGCCAGGCTTGACATTCCCAGCAAGAACCGAGGAGAGGGCTGAGCACCTTCCCTCTGAGTCACAGACCCTCAGAGTAGGGAAGAAGTGAAGAGGTTACTTTGTTCCACGTCCCACATCCCACTCAGGCAGGTATCACCAACTTTCTCTGAGTGTTTCTGTAGACAAGGTGCCCCCTAGATTTCCAGGGAGCTGGGCCAAAATCTGGGTCACAGCTATCCCATATTCAGAACCCCAGAACCTTAGGACCCCACAAGGTTAAAATTTGGAAGGGACTGATGCCATAGGAGTCTCAGATCCATCACTTCCCAGTTGTATGACTTTGGACAATTCCTTTTGCTTCTCCAAGCCTTGGTTCCTTATCTACAAAATAGGAACACTACTGCCTGCCTTGCTGAGTTATTGTAAGAATTAAATATAGGTGGCAGTGTTTAATAAGCTATAAAGATGTAAGGCATTCAAGTAATGGCTTCCAATTACATCTAATGTTTTCCAATTACATCTAATATTTTCCAATTATTTTCTAATCAAATGTCACACTCCCACCTCACTCCTAAACACCTGGCAGAAGACCAGGCACCTAGAAAGAGCTTAGTCACAGTCACTGAAGGGTCCAGCACACCACCCTGCCCCCAACACCTCTTACATACACATTCTGCTAGTGGTAGGTGGAAAAATGGAAGCCCAGGGGAGGAATGCACCTTGCCCAGGGCTATGCAGTGAGTCTAGCCAAAGGCCGACTGAGGGGGCCAGGTCTCCTGTTTCCCAGACTAGGGCTCTTTCTACACCATATCACCTCCCCTCTAAAAAGGGAAGGTGGGGAGGACAAGGTTCAGAATCCATTTAGTGGGGTCATCTCACCCAAGATCAGACAGCCAGCCAGGGGCAGTACTGGGACCCGAGCCCAGGTGTGTTAAGGGACTCTCTACTCTGCCACCCTGTTGCCAATCCTCTTCCCTGAATGTCTGGGGAGAAATACCATTCCACAAAATGAAAGGATGGCAGAACGGGGATCACTGTGTGGAGTTCTGTCCCAGGAACCCAAGTGCATGTGGCAGGGTAGGAAGGGGTAAGCAGGCTAGAACGGGGAGCACGCACTTGTTGAAGAGGTTGAGGCCGATTCGGTAGTGCCGCCTCTGGACCACATCATTGTTGAAAGCTGGCGAGTCCCAGCTATGCCTTGTCTCCCGCTGGTAAGTCTGCTTGCACAGGCCGGTAGCCGGAGGCTCCCTTAGACTGTCCCGAGAAGAGGAGCCGGAGCTGCAGTTGATGGTCTCATTGGAATTGCTGGAGCTCTCAAGGCTCTCGTTATCTCCACCATCAGAGTTCTCGCCTGCTGCCTCGCACTTCCCCAACCTCCGACCCCCAGCCACACCACTGGGCCCAGTGCCACTGTTGGGGGCTGGTGGCAGGGGCCCTGGTGGGGCTGGGGCTGGGCCTTCAGGGGCTGGGTAGTGGCGGTGTGGGATCGGGGCCCTGCCTGGTGGCCCCTTGTGCTTCAGGGTCCCATGGGGGCTGCAGCCATCAGCCTCATACACCAGCTGGCGGTGGACAGAGCCGCGATCTGAGCGGTCACTCAGGTCCACGGAGCTGTCACTAGGAGGCTCAATGGTAAGCAGGGGAAGGTGGGCAGCCCGCAGCCGGAAATCCCGGCACTCCAAGCACCCGGGACCCCTGCGAGTGCCTTCCTCACGGCTACCGTCTTCCCGGGTTCCTGATGCACTGGTGGAGGAACTGGCGGGAGAGGGGCTGGCGCCCAGAACTCGGGCCGGCCCTGGGGTGGGGGTTCTGTGCTGGGCAGTCGCTCAGGGGATTGTTGGGGAACTGTGTCATCCAGGTAGAGGGGAAGATCACTGAAGGATGTGGCTGAGCTGTCCTCTTGCTGTTCCTTTGACTCCCGCTTCTCCAGCTGGGCTGACCCTGGCTCCTCAGACATGGGCCCTGACGGGTGGCAGTTCAGGGCTTCGTCGATGGATTCAGCCAGAGACTTTACCTGTGCAAGGGGGGGAGGAGAGGAGGGAAAGGGAGAGAAAAGAAAGAAAGATAAAGGGAAGAATGGTGGAAGGTGGGAATGAGGGAGGGAGGTAAGGAAAAAGGGGGAGTCTTCCTGGTAGGTCAGCAAGGAGGGTGGATTCCCCTCCCCCAGCCCTGACAGGCTCTCTGTGGTCTGTAAAATGACTCCCAGGGAACCATTGTGAGCTCACAGGAGCTGAGACTAATGCCCACAAGTTCCCCACTCAGCTCACACCCCAATACCTCCTTTGTGTCCATTTAGACTCAAGCCAAACGTTACCTCCTCCCTGATTCAAGCCACATTCTTGCCTCTGCCATCCCCCAGAGTAAACCAAAATCCCAGTTTCCTCTGTGGGAATTCTCTTAGGAAATCCATAACATTTGACCTTGAGCATCTGGACCACAGCTGGTAATGCTCTCTCCCTGTGGTATCCAGACTCTAAACTGGCCGCTAATGATCCCTGCCTCCTGGTATTCACACCCTAGGGTACCACATTGTACCAGAGTTAGTCTGTGTGACAAACAGCATATGGCAGAAGCGAATGTATGTCACTTCTGAAATTAGGTTTTAAAAGACTGCAGAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCCCTTGAGCCCAGGAGTTCAAGAGCAGCCTGGGCAACATGGCGAGACTCTATCTCTACAAAAAATAAAAACATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTCAGGAGAGTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCTATGATCACGCCACTACACTCCAGCCTGGCAACAGAGCAAGATACTGTCTCTAAAATTTTTATTTGTTTGTTTGAGACAGAGTCTTGCTCTCACCCAGGCTGGAGTGCAGTGGCACGATCTCACCTCACTGCAACCTGCACCTCCCAGGTTCAAGCGATTCTCCTTCCTCAGCCTCCCCAGTAGCAGGGATTACAGGTGCGCACCACCATGTTTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGATGGACAGGCTGGTCTCAAACTCCTGACCTCAGGTGACCTGCCCACCTTGGCCTCCCGAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCCAAAAAAAATTTATTAAAAAAAAAAAAAAAAACTGCAAAACATTTTTTAAAAATTTAAAACATTAAAAAAAATTTTTTTAATGACTGCAGCTTGCATCTTGAGCACTCTTGGTCGCTTGTCACTTGTACTATTTCTCTCAGACCCCCCAACCTGGGGAAAGCCGCATCACGAACAGTCCTATGGAGAGGCCCACAGGGTGAGGCATTGAATCCTCCTGCCAACAGCCAAGTGGGTGAGCTTGAAAGCAGACTGCCAGCCCCAGTCTAATCTTCAGATATTGCGGGCTCTCCCTACAGCTTGACCGCAGCCTCATGAAAGGCCCTGAACCAGAACCACTCAGCCATGCCATTCCCAGCTTCCTGGCACCCAGAAACTGTATGAAATAATAAATGTTTATTGTTTAGGCTCACTCTCTTGGGTCAGTTTTAAGCTACCAAATTTGGGGGTAATTTGTTACACAGCAACAGATAACAGATATACTTCCCCATCAGACTTCAATAGCACTCAGAGCTGGGACCAGACCTGCTTCCCAGACTGATCTCCTATTTCCCATTCCTCCCTTGAGGGAGGGATCCAGGCCTGGTTTN
|
pathogenic
| 334,579 |
Is the variant located on chromosome X at position 53250988, gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Intellectual_disability,_X-linked_1']
|
CTCATTTGTTGAACTAATTTTGGGCCCAACTAAGTCCGGCCTCAGAGGACCAACGAAGTCAAATACATAATTTGATCCAATCCCATCATGGCACAAGTGAGAAAACTGAGGCCCAGGGAGAAGAAGCCACTTGCCCATTTCAAGGAGCTTCAAAATCCCAAGGTATCTTCAACCCAACATCCCCCTTCACTGGAGCCACATCACAATTGAAAGAAAATCAGTATCTAATGAGAGCCTGCTCTATGCCAGGCTTGACATTCCCAGCAAGAACCGAGGAGAGGGCTGAGCACCTTCCCTCTGAGTCACAGACCCTCAGAGTAGGGAAGAAGTGAAGAGGTTACTTTGTTCCACGTCCCACATCCCACTCAGGCAGGTATCACCAACTTTCTCTGAGTGTTTCTGTAGACAAGGTGCCCCCTAGATTTCCAGGGAGCTGGGCCAAAATCTGGGTCACAGCTATCCCATATTCAGAACCCCAGAACCTTAGGACCCCACAAGGTTAAAATTTGGAAGGGACTGATGCCATAGGAGTCTCAGATCCATCACTTCCCAGTTGTATGACTTTGGACAATTCCTTTTGCTTCTCCAAGCCTTGGTTCCTTATCTACAAAATAGGAACACTACTGCCTGCCTTGCTGAGTTATTGTAAGAATTAAATATAGGTGGCAGTGTTTAATAAGCTATAAAGATGTAAGGCATTCAAGTAATGGCTTCCAATTACATCTAATGTTTTCCAATTACATCTAATATTTTCCAATTATTTTCTAATCAAATGTCACACTCCCACCTCACTCCTAAACACCTGGCAGAAGACCAGGCACCTAGAAAGAGCTTAGTCACAGTCACTGAAGGGTCCAGCACACCACCCTGCCCCCAACACCTCTTACATACACATTCTGCTAGTGGTAGGTGGAAAAATGGAAGCCCAGGGGAGGAATGCACCTTGCCCAGGGCTATGCAGTGAGTCTAGCCAAAGGCCGACTGAGGGGGCCAGGTCTCCTGTTTCCCAGACTAGGGCTCTTTCTACACCATATCACCTCCCCTCTAAAAAGGGAAGGTGGGGAGGACAAGGTTCAGAATCCATTTAGTGGGGTCATCTCACCCAAGATCAGACAGCCAGCCAGGGGCAGTACTGGGACCCGAGCCCAGGTGTGTTAAGGGACTCTCTACTCTGCCACCCTGTTGCCAATCCTCTTCCCTGAATGTCTGGGGAGAAATACCATTCCACAAAATGAAAGGATGGCAGAACGGGGATCACTGTGTGGAGTTCTGTCCCAGGAACCCAAGTGCATGTGGCAGGGTAGGAAGGGGTAAGCAGGCTAGAACGGGGAGCACGCACTTGTTGAAGAGGTTGAGGCCGATTCGGTAGTGCCGCCTCTGGACCACATCATTGTTGAAAGCTGGCGAGTCCCAGCTATGCCTTGTCTCCCGCTGGTAAGTCTGCTTGCACAGGCCGGTAGCCGGAGGCTCCCTTAGACTGTCCCGAGAAGAGGAGCCGGAGCTGCAGTTGATGGTCTCATTGGAATTGCTGGAGCTCTCAAGGCTCTCGTTATCTCCACCATCAGAGTTCTCGCCTGCTGCCTCGCACTTCCCCAACCTCCGACCCCCAGCCACACCACTGGGCCCAGTGCCACTGTTGGGGGCTGGTGGCAGGGGCCCTGGTGGGGCTGGGGCTGGGCCTTCAGGGGCTGGGTAGTGGCGGTGTGGGATCGGGGCCCTGCCTGGTGGCCCCTTGTGCTTCAGGGTCCCATGGGGGCTGCAGCCATCAGCCTCATACACCAGCTGGCGGTGGACAGAGCCGCGATCTGAGCGGTCACTCAGGTCCACGGAGCTGTCACTAGGAGGCTCAATGGTAAGCAGGGGAAGGTGGGCAGCCCGCAGCCGGAAATCCCGGCACTCCAAGCACCCGGGACCCCTGCGAGTGCCTTCCTCACGGCTACCGTCTTCCCGGGTTCCTGATGGCACTGGTGGAGGAACTGGCGGGAGAGGGGCTGGCGCCCAGAACTCGGGCCGGCCCTGGGGTGGGGGTTCTGTGCTGGGCAGTCGCTCAGGGGATTGTTGGGGAACTGTGTCATCCAGGTAGAGGGGAAGATCACTGAAGGATGTGGCTGAGCTGTCCTCTTGCTGTTCCTTTGACTCCCGCTTCTCCAGCTGGGCTGACCCTGGCTCCTCAGACATGGGCCCTGACGGGTGGCAGTTCAGGGCTTCGTCGATGGATTCAGCCAGAGACTTTACCTGTGCAAGGGGGGGAGGAGAGGAGGGAAAGGGAGAGAAAAGAAAGAAAGATAAAGGGAAGAATGGTGGAAGGTGGGAATGAGGGAGGGAGGTAAGGAAAAAGGGGGAGTCTTCCTGGTAGGTCAGCAAGGAGGGTGGATTCCCCTCCCCCAGCCCTGACAGGCTCTCTGTGGTCTGTAAAATGACTCCCAGGGAACCATTGTGAGCTCACAGGAGCTGAGACTAATGCCCACAAGTTCCCCACTCAGCTCACACCCCAATACCTCCTTTGTGTCCATTTAGACTCAAGCCAAACGTTACCTCCTCCCTGATTCAAGCCACATTCTTGCCTCTGCCATCCCCCAGAGTAAACCAAAATCCCAGTTTCCTCTGTGGGAATTCTCTTAGGAAATCCATAACATTTGACCTTGAGCATCTGGACCACAGCTGGTAATGCTCTCTCCCTGTGGTATCCAGACTCTAAACTGGCCGCTAATGATCCCTGCCTCCTGGTATTCACACCCTAGGGTACCACATTGTACCAGAGTTAGTCTGTGTGACAAACAGCATATGGCAGAAGCGAATGTATGTCACTTCTGAAATTAGGTTTTAAAAGACTGCAGAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCCCTTGAGCCCAGGAGTTCAAGAGCAGCCTGGGCAACATGGCGAGACTCTATCTCTACAAAAAATAAAAACATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTCAGGAGAGTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCTATGATCACGCCACTACACTCCAGCCTGGCAACAGAGCAAGATACTGTCTCTAAAATTTTTATTTGTTTGTTTGAGACAGAGTCTTGCTCTCACCCAGGCTGGAGTGCAGTGGCACGATCTCACCTCACTGCAACCTGCACCTCCCAGGTTCAAGCGATTCTCCTTCCTCAGCCTCCCCAGTAGCAGGGATTACAGGTGCGCACCACCATGTTTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGATGGACAGGCTGGTCTCAAACTCCTGACCTCAGGTGACCTGCCCACCTTGGCCTCCCGAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCCAAAAAAAATTTATTAAAAAAAAAAAAAAAAACTGCAAAACATTTTTTAAAAATTTAAAACATTAAAAAAAATTTTTTTAATGACTGCAGCTTGCATCTTGAGCACTCTTGGTCGCTTGTCACTTGTACTATTTCTCTCAGACCCCCCAACCTGGGGAAAGCCGCATCACGAACAGTCCTATGGAGAGGCCCACAGGGTGAGGCATTGAATCCTCCTGCCAACAGCCAAGTGGGTGAGCTTGAAAGCAGACTGCCAGCCCCAGTCTAATCTTCAGATATTGCGGGCTCTCCCTACAGCTTGACCGCAGCCTCATGAAAGGCCCTGAACCAGAACCACTCAGCCATGCCATTCCCAGCTTCCTGGCACCCAGAAACTGTATGAAATAATAAATGTTTATTGTTTAGGCTCACTCTCTTGGGTCAGTTTTAAGCTACCAAATTTGGGGGTAATTTGTTACACAGCAACAGATAACAGATATACTTCCCCATCAGACTTCAATAGCACTCAGAGCTGGGACCAGACCTGCTTCCCAGACTGATCTCCTATTTCCCATTCCTCCCTTGAGGGAGGGATCCAGGCCTGGTTTCTCTCTTTTTAGCTCAGCTCAACACATTGCTTGACACAGAAGAGATGTTCAATTAAATCTTTGTTGTATGAATGAACAGACGAATGATA
|
CTCATTTGTTGAACTAATTTTGGGCCCAACTAAGTCCGGCCTCAGAGGACCAACGAAGTCAAATACATAATTTGATCCAATCCCATCATGGCACAAGTGAGAAAACTGAGGCCCAGGGAGAAGAAGCCACTTGCCCATTTCAAGGAGCTTCAAAATCCCAAGGTATCTTCAACCCAACATCCCCCTTCACTGGAGCCACATCACAATTGAAAGAAAATCAGTATCTAATGAGAGCCTGCTCTATGCCAGGCTTGACATTCCCAGCAAGAACCGAGGAGAGGGCTGAGCACCTTCCCTCTGAGTCACAGACCCTCAGAGTAGGGAAGAAGTGAAGAGGTTACTTTGTTCCACGTCCCACATCCCACTCAGGCAGGTATCACCAACTTTCTCTGAGTGTTTCTGTAGACAAGGTGCCCCCTAGATTTCCAGGGAGCTGGGCCAAAATCTGGGTCACAGCTATCCCATATTCAGAACCCCAGAACCTTAGGACCCCACAAGGTTAAAATTTGGAAGGGACTGATGCCATAGGAGTCTCAGATCCATCACTTCCCAGTTGTATGACTTTGGACAATTCCTTTTGCTTCTCCAAGCCTTGGTTCCTTATCTACAAAATAGGAACACTACTGCCTGCCTTGCTGAGTTATTGTAAGAATTAAATATAGGTGGCAGTGTTTAATAAGCTATAAAGATGTAAGGCATTCAAGTAATGGCTTCCAATTACATCTAATGTTTTCCAATTACATCTAATATTTTCCAATTATTTTCTAATCAAATGTCACACTCCCACCTCACTCCTAAACACCTGGCAGAAGACCAGGCACCTAGAAAGAGCTTAGTCACAGTCACTGAAGGGTCCAGCACACCACCCTGCCCCCAACACCTCTTACATACACATTCTGCTAGTGGTAGGTGGAAAAATGGAAGCCCAGGGGAGGAATGCACCTTGCCCAGGGCTATGCAGTGAGTCTAGCCAAAGGCCGACTGAGGGGGCCAGGTCTCCTGTTTCCCAGACTAGGGCTCTTTCTACACCATATCACCTCCCCTCTAAAAAGGGAAGGTGGGGAGGACAAGGTTCAGAATCCATTTAGTGGGGTCATCTCACCCAAGATCAGACAGCCAGCCAGGGGCAGTACTGGGACCCGAGCCCAGGTGTGTTAAGGGACTCTCTACTCTGCCACCCTGTTGCCAATCCTCTTCCCTGAATGTCTGGGGAGAAATACCATTCCACAAAATGAAAGGATGGCAGAACGGGGATCACTGTGTGGAGTTCTGTCCCAGGAACCCAAGTGCATGTGGCAGGGTAGGAAGGGGTAAGCAGGCTAGAACGGGGAGCACGCACTTGTTGAAGAGGTTGAGGCCGATTCGGTAGTGCCGCCTCTGGACCACATCATTGTTGAAAGCTGGCGAGTCCCAGCTATGCCTTGTCTCCCGCTGGTAAGTCTGCTTGCACAGGCCGGTAGCCGGAGGCTCCCTTAGACTGTCCCGAGAAGAGGAGCCGGAGCTGCAGTTGATGGTCTCATTGGAATTGCTGGAGCTCTCAAGGCTCTCGTTATCTCCACCATCAGAGTTCTCGCCTGCTGCCTCGCACTTCCCCAACCTCCGACCCCCAGCCACACCACTGGGCCCAGTGCCACTGTTGGGGGCTGGTGGCAGGGGCCCTGGTGGGGCTGGGGCTGGGCCTTCAGGGGCTGGGTAGTGGCGGTGTGGGATCGGGGCCCTGCCTGGTGGCCCCTTGTGCTTCAGGGTCCCATGGGGGCTGCAGCCATCAGCCTCATACACCAGCTGGCGGTGGACAGAGCCGCGATCTGAGCGGTCACTCAGGTCCACGGAGCTGTCACTAGGAGGCTCAATGGTAAGCAGGGGAAGGTGGGCAGCCCGCAGCCGGAAATCCCGGCACTCCAAGCACCCGGGACCCCTGCGAGTGCCTTCCTCACGGCTACCGTCTTCCCGGGTTCCTGATGGCACTGGTGGAGGAACTGGCGGGAGAGGGGCTGGCGCCCAGAACTCGGGCCGGCCCTGGGGTGGGGGTTCTGTGCTGGGCAGTCGCTCGGGATTGTTGGGGAACTGTGTCATCCAGGTAGAGGGGAAGATCACTGAAGGATGTGGCTGAGCTGTCCTCTTGCTGTTCCTTTGACTCCCGCTTCTCCAGCTGGGCTGACCCTGGCTCCTCAGACATGGGCCCTGACGGGTGGCAGTTCAGGGCTTCGTCGATGGATTCAGCCAGAGACTTTACCTGTGCAAGGGGGGGAGGAGAGGAGGGAAAGGGAGAGAAAAGAAAGAAAGATAAAGGGAAGAATGGTGGAAGGTGGGAATGAGGGAGGGAGGTAAGGAAAAAGGGGGAGTCTTCCTGGTAGGTCAGCAAGGAGGGTGGATTCCCCTCCCCCAGCCCTGACAGGCTCTCTGTGGTCTGTAAAATGACTCCCAGGGAACCATTGTGAGCTCACAGGAGCTGAGACTAATGCCCACAAGTTCCCCACTCAGCTCACACCCCAATACCTCCTTTGTGTCCATTTAGACTCAAGCCAAACGTTACCTCCTCCCTGATTCAAGCCACATTCTTGCCTCTGCCATCCCCCAGAGTAAACCAAAATCCCAGTTTCCTCTGTGGGAATTCTCTTAGGAAATCCATAACATTTGACCTTGAGCATCTGGACCACAGCTGGTAATGCTCTCTCCCTGTGGTATCCAGACTCTAAACTGGCCGCTAATGATCCCTGCCTCCTGGTATTCACACCCTAGGGTACCACATTGTACCAGAGTTAGTCTGTGTGACAAACAGCATATGGCAGAAGCGAATGTATGTCACTTCTGAAATTAGGTTTTAAAAGACTGCAGAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCCCTTGAGCCCAGGAGTTCAAGAGCAGCCTGGGCAACATGGCGAGACTCTATCTCTACAAAAAATAAAAACATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTCAGGAGAGTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCTATGATCACGCCACTACACTCCAGCCTGGCAACAGAGCAAGATACTGTCTCTAAAATTTTTATTTGTTTGTTTGAGACAGAGTCTTGCTCTCACCCAGGCTGGAGTGCAGTGGCACGATCTCACCTCACTGCAACCTGCACCTCCCAGGTTCAAGCGATTCTCCTTCCTCAGCCTCCCCAGTAGCAGGGATTACAGGTGCGCACCACCATGTTTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGATGGACAGGCTGGTCTCAAACTCCTGACCTCAGGTGACCTGCCCACCTTGGCCTCCCGAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCCAAAAAAAATTTATTAAAAAAAAAAAAAAAAACTGCAAAACATTTTTTAAAAATTTAAAACATTAAAAAAAATTTTTTTAATGACTGCAGCTTGCATCTTGAGCACTCTTGGTCGCTTGTCACTTGTACTATTTCTCTCAGACCCCCCAACCTGGGGAAAGCCGCATCACGAACAGTCCTATGGAGAGGCCCACAGGGTGAGGCATTGAATCCTCCTGCCAACAGCCAAGTGGGTGAGCTTGAAAGCAGACTGCCAGCCCCAGTCTAATCTTCAGATATTGCGGGCTCTCCCTACAGCTTGACCGCAGCCTCATGAAAGGCCCTGAACCAGAACCACTCAGCCATGCCATTCCCAGCTTCCTGGCACCCAGAAACTGTATGAAATAATAAATGTTTATTGTTTAGGCTCACTCTCTTGGGTCAGTTTTAAGCTACCAAATTTGGGGGTAATTTGTTACACAGCAACAGATAACAGATATACTTCCCCATCAGACTTCAATAGCACTCAGAGCTGGGACCAGACCTGCTTCCCAGACTGATCTCCTATTTCCCATTCCTCCCTTGAGGGAGGGATCCAGGCCTGGTTTCTCTCTTTTTAGCTCAGCTCAACACATTGCTTGACACAGAAGAGATGTTCAATTAAATCTTTGTTGTATGAATGAACAGACGAATGATANN
|
pathogenic
| 334,585 |
Benign or pathogenic: chromosome X, position 53251182, gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2) variant? Disease(s) if pathogenic?
|
benign
|
GCCACATCACAATTGAAAGAAAATCAGTATCTAATGAGAGCCTGCTCTATGCCAGGCTTGACATTCCCAGCAAGAACCGAGGAGAGGGCTGAGCACCTTCCCTCTGAGTCACAGACCCTCAGAGTAGGGAAGAAGTGAAGAGGTTACTTTGTTCCACGTCCCACATCCCACTCAGGCAGGTATCACCAACTTTCTCTGAGTGTTTCTGTAGACAAGGTGCCCCCTAGATTTCCAGGGAGCTGGGCCAAAATCTGGGTCACAGCTATCCCATATTCAGAACCCCAGAACCTTAGGACCCCACAAGGTTAAAATTTGGAAGGGACTGATGCCATAGGAGTCTCAGATCCATCACTTCCCAGTTGTATGACTTTGGACAATTCCTTTTGCTTCTCCAAGCCTTGGTTCCTTATCTACAAAATAGGAACACTACTGCCTGCCTTGCTGAGTTATTGTAAGAATTAAATATAGGTGGCAGTGTTTAATAAGCTATAAAGATGTAAGGCATTCAAGTAATGGCTTCCAATTACATCTAATGTTTTCCAATTACATCTAATATTTTCCAATTATTTTCTAATCAAATGTCACACTCCCACCTCACTCCTAAACACCTGGCAGAAGACCAGGCACCTAGAAAGAGCTTAGTCACAGTCACTGAAGGGTCCAGCACACCACCCTGCCCCCAACACCTCTTACATACACATTCTGCTAGTGGTAGGTGGAAAAATGGAAGCCCAGGGGAGGAATGCACCTTGCCCAGGGCTATGCAGTGAGTCTAGCCAAAGGCCGACTGAGGGGGCCAGGTCTCCTGTTTCCCAGACTAGGGCTCTTTCTACACCATATCACCTCCCCTCTAAAAAGGGAAGGTGGGGAGGACAAGGTTCAGAATCCATTTAGTGGGGTCATCTCACCCAAGATCAGACAGCCAGCCAGGGGCAGTACTGGGACCCGAGCCCAGGTGTGTTAAGGGACTCTCTACTCTGCCACCCTGTTGCCAATCCTCTTCCCTGAATGTCTGGGGAGAAATACCATTCCACAAAATGAAAGGATGGCAGAACGGGGATCACTGTGTGGAGTTCTGTCCCAGGAACCCAAGTGCATGTGGCAGGGTAGGAAGGGGTAAGCAGGCTAGAACGGGGAGCACGCACTTGTTGAAGAGGTTGAGGCCGATTCGGTAGTGCCGCCTCTGGACCACATCATTGTTGAAAGCTGGCGAGTCCCAGCTATGCCTTGTCTCCCGCTGGTAAGTCTGCTTGCACAGGCCGGTAGCCGGAGGCTCCCTTAGACTGTCCCGAGAAGAGGAGCCGGAGCTGCAGTTGATGGTCTCATTGGAATTGCTGGAGCTCTCAAGGCTCTCGTTATCTCCACCATCAGAGTTCTCGCCTGCTGCCTCGCACTTCCCCAACCTCCGACCCCCAGCCACACCACTGGGCCCAGTGCCACTGTTGGGGGCTGGTGGCAGGGGCCCTGGTGGGGCTGGGGCTGGGCCTTCAGGGGCTGGGTAGTGGCGGTGTGGGATCGGGGCCCTGCCTGGTGGCCCCTTGTGCTTCAGGGTCCCATGGGGGCTGCAGCCATCAGCCTCATACACCAGCTGGCGGTGGACAGAGCCGCGATCTGAGCGGTCACTCAGGTCCACGGAGCTGTCACTAGGAGGCTCAATGGTAAGCAGGGGAAGGTGGGCAGCCCGCAGCCGGAAATCCCGGCACTCCAAGCACCCGGGACCCCTGCGAGTGCCTTCCTCACGGCTACCGTCTTCCCGGGTTCCTGATGGCACTGGTGGAGGAACTGGCGGGAGAGGGGCTGGCGCCCAGAACTCGGGCCGGCCCTGGGGTGGGGGTTCTGTGCTGGGCAGTCGCTCAGGGGATTGTTGGGGAACTGTGTCATCCAGGTAGAGGGGAAGATCACTGAAGGATGTGGCTGAGCTGTCCTCTTGCTGTTCCTTTGACTCCCGCTTCTCCAGCTGGGCTGACCCTGGCTCCTCAGACATGGGCCCTGACGGGTGGCAGTTCAGGGCTTCGTCGATGGATTCAGCCAGAGACTTTACCTGTGCAAGGGGGGGAGGAGAGGAGGGAAAGGGAGAGAAAAGAAAGAAAGATAAAGGGAAGAATGGTGGAAGGTGGGAATGAGGGAGGGAGGTAAGGAAAAAGGGGGAGTCTTCCTGGTAGGTCAGCAAGGAGGGTGGATTCCCCTCCCCCAGCCCTGACAGGCTCTCTGTGGTCTGTAAAATGACTCCCAGGGAACCATTGTGAGCTCACAGGAGCTGAGACTAATGCCCACAAGTTCCCCACTCAGCTCACACCCCAATACCTCCTTTGTGTCCATTTAGACTCAAGCCAAACGTTACCTCCTCCCTGATTCAAGCCACATTCTTGCCTCTGCCATCCCCCAGAGTAAACCAAAATCCCAGTTTCCTCTGTGGGAATTCTCTTAGGAAATCCATAACATTTGACCTTGAGCATCTGGACCACAGCTGGTAATGCTCTCTCCCTGTGGTATCCAGACTCTAAACTGGCCGCTAATGATCCCTGCCTCCTGGTATTCACACCCTAGGGTACCACATTGTACCAGAGTTAGTCTGTGTGACAAACAGCATATGGCAGAAGCGAATGTATGTCACTTCTGAAATTAGGTTTTAAAAGACTGCAGAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCCCTTGAGCCCAGGAGTTCAAGAGCAGCCTGGGCAACATGGCGAGACTCTATCTCTACAAAAAATAAAAACATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTCAGGAGAGTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCTATGATCACGCCACTACACTCCAGCCTGGCAACAGAGCAAGATACTGTCTCTAAAATTTTTATTTGTTTGTTTGAGACAGAGTCTTGCTCTCACCCAGGCTGGAGTGCAGTGGCACGATCTCACCTCACTGCAACCTGCACCTCCCAGGTTCAAGCGATTCTCCTTCCTCAGCCTCCCCAGTAGCAGGGATTACAGGTGCGCACCACCATGTTTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGATGGACAGGCTGGTCTCAAACTCCTGACCTCAGGTGACCTGCCCACCTTGGCCTCCCGAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCCAAAAAAAATTTATTAAAAAAAAAAAAAAAAACTGCAAAACATTTTTTAAAAATTTAAAACATTAAAAAAAATTTTTTTAATGACTGCAGCTTGCATCTTGAGCACTCTTGGTCGCTTGTCACTTGTACTATTTCTCTCAGACCCCCCAACCTGGGGAAAGCCGCATCACGAACAGTCCTATGGAGAGGCCCACAGGGTGAGGCATTGAATCCTCCTGCCAACAGCCAAGTGGGTGAGCTTGAAAGCAGACTGCCAGCCCCAGTCTAATCTTCAGATATTGCGGGCTCTCCCTACAGCTTGACCGCAGCCTCATGAAAGGCCCTGAACCAGAACCACTCAGCCATGCCATTCCCAGCTTCCTGGCACCCAGAAACTGTATGAAATAATAAATGTTTATTGTTTAGGCTCACTCTCTTGGGTCAGTTTTAAGCTACCAAATTTGGGGGTAATTTGTTACACAGCAACAGATAACAGATATACTTCCCCATCAGACTTCAATAGCACTCAGAGCTGGGACCAGACCTGCTTCCCAGACTGATCTCCTATTTCCCATTCCTCCCTTGAGGGAGGGATCCAGGCCTGGTTTCTCTCTTTTTAGCTCAGCTCAACACATTGCTTGACACAGAAGAGATGTTCAATTAAATCTTTGTTGTATGAATGAACAGACGAATGATATAGATCTTCCCTTCAATACTCCTGTCCTTCCCTCCACCTCTTCACCAGCTCCAAGGAGGCATGCCCAGGCTGATGGCAAGGCCAGATCATAGAGGTTAGAGCAGGGTGACTTTTTCTCTTATAAAGCTTCTTCCATTCATTCAACAATCTCTACCAAGTACCTTCTTGGTTTTAGGAAGAAAACTAACGTACTT
|
GCCACATCACAATTGAAAGAAAATCAGTATCTAATGAGAGCCTGCTCTATGCCAGGCTTGACATTCCCAGCAAGAACCGAGGAGAGGGCTGAGCACCTTCCCTCTGAGTCACAGACCCTCAGAGTAGGGAAGAAGTGAAGAGGTTACTTTGTTCCACGTCCCACATCCCACTCAGGCAGGTATCACCAACTTTCTCTGAGTGTTTCTGTAGACAAGGTGCCCCCTAGATTTCCAGGGAGCTGGGCCAAAATCTGGGTCACAGCTATCCCATATTCAGAACCCCAGAACCTTAGGACCCCACAAGGTTAAAATTTGGAAGGGACTGATGCCATAGGAGTCTCAGATCCATCACTTCCCAGTTGTATGACTTTGGACAATTCCTTTTGCTTCTCCAAGCCTTGGTTCCTTATCTACAAAATAGGAACACTACTGCCTGCCTTGCTGAGTTATTGTAAGAATTAAATATAGGTGGCAGTGTTTAATAAGCTATAAAGATGTAAGGCATTCAAGTAATGGCTTCCAATTACATCTAATGTTTTCCAATTACATCTAATATTTTCCAATTATTTTCTAATCAAATGTCACACTCCCACCTCACTCCTAAACACCTGGCAGAAGACCAGGCACCTAGAAAGAGCTTAGTCACAGTCACTGAAGGGTCCAGCACACCACCCTGCCCCCAACACCTCTTACATACACATTCTGCTAGTGGTAGGTGGAAAAATGGAAGCCCAGGGGAGGAATGCACCTTGCCCAGGGCTATGCAGTGAGTCTAGCCAAAGGCCGACTGAGGGGGCCAGGTCTCCTGTTTCCCAGACTAGGGCTCTTTCTACACCATATCACCTCCCCTCTAAAAAGGGAAGGTGGGGAGGACAAGGTTCAGAATCCATTTAGTGGGGTCATCTCACCCAAGATCAGACAGCCAGCCAGGGGCAGTACTGGGACCCGAGCCCAGGTGTGTTAAGGGACTCTCTACTCTGCCACCCTGTTGCCAATCCTCTTCCCTGAATGTCTGGGGAGAAATACCATTCCACAAAATGAAAGGATGGCAGAACGGGGATCACTGTGTGGAGTTCTGTCCCAGGAACCCAAGTGCATGTGGCAGGGTAGGAAGGGGTAAGCAGGCTAGAACGGGGAGCACGCACTTGTTGAAGAGGTTGAGGCCGATTCGGTAGTGCCGCCTCTGGACCACATCATTGTTGAAAGCTGGCGAGTCCCAGCTATGCCTTGTCTCCCGCTGGTAAGTCTGCTTGCACAGGCCGGTAGCCGGAGGCTCCCTTAGACTGTCCCGAGAAGAGGAGCCGGAGCTGCAGTTGATGGTCTCATTGGAATTGCTGGAGCTCTCAAGGCTCTCGTTATCTCCACCATCAGAGTTCTCGCCTGCTGCCTCGCACTTCCCCAACCTCCGACCCCCAGCCACACCACTGGGCCCAGTGCCACTGTTGGGGGCTGGTGGCAGGGGCCCTGGTGGGGCTGGGGCTGGGCCTTCAGGGGCTGGGTAGTGGCGGTGTGGGATCGGGGCCCTGCCTGGTGGCCCCTTGTGCTTCAGGGTCCCATGGGGGCTGCAGCCATCAGCCTCATACACCAGCTGGCGGTGGACAGAGCCGCGATCTGAGCGGTCACTCAGGTCCACGGAGCTGTCACTAGGAGGCTCAATGGTAAGCAGGGGAAGGTGGGCAGCCCGCAGCCGGAAATCCCGGCACTCCAAGCACCCGGGACCCCTGCGAGTGCCTTCCTCACGGCTACCGTCTTCCCGGGTTCCTGATGGCACTGGTGGAGGAACTGGCGGGAGAGGGGCTGGCGCCCAGAACTCGGGCCGGCCCTGGGGTGGGGGTTCTGTGCTGGGCAGTCGCTCAGGGGATTGTTGGGGAACTGTGTCATCCAGGTAGAGGGGAAGATCACTGAAGGATGTGGCTGAGCTGTCCTCTTGCTGTTCCTTTGACTCCCGCTTCTCCAGCTGGGCTGACCCTGGCTCCTCAGACATGGGCCCTGACGGGTGGCAGTTCAGGGCTTCGTCGATGGATTCAGCCAGAGACTTTACCTGTGCAAGGGGGGGGAGGAGAGGAGGGAAAGGGAGAGAAAAGAAAGAAAGATAAAGGGAAGAATGGTGGAAGGTGGGAATGAGGGAGGGAGGTAAGGAAAAAGGGGGAGTCTTCCTGGTAGGTCAGCAAGGAGGGTGGATTCCCCTCCCCCAGCCCTGACAGGCTCTCTGTGGTCTGTAAAATGACTCCCAGGGAACCATTGTGAGCTCACAGGAGCTGAGACTAATGCCCACAAGTTCCCCACTCAGCTCACACCCCAATACCTCCTTTGTGTCCATTTAGACTCAAGCCAAACGTTACCTCCTCCCTGATTCAAGCCACATTCTTGCCTCTGCCATCCCCCAGAGTAAACCAAAATCCCAGTTTCCTCTGTGGGAATTCTCTTAGGAAATCCATAACATTTGACCTTGAGCATCTGGACCACAGCTGGTAATGCTCTCTCCCTGTGGTATCCAGACTCTAAACTGGCCGCTAATGATCCCTGCCTCCTGGTATTCACACCCTAGGGTACCACATTGTACCAGAGTTAGTCTGTGTGACAAACAGCATATGGCAGAAGCGAATGTATGTCACTTCTGAAATTAGGTTTTAAAAGACTGCAGAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCCCTTGAGCCCAGGAGTTCAAGAGCAGCCTGGGCAACATGGCGAGACTCTATCTCTACAAAAAATAAAAACATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTCAGGAGAGTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCTATGATCACGCCACTACACTCCAGCCTGGCAACAGAGCAAGATACTGTCTCTAAAATTTTTATTTGTTTGTTTGAGACAGAGTCTTGCTCTCACCCAGGCTGGAGTGCAGTGGCACGATCTCACCTCACTGCAACCTGCACCTCCCAGGTTCAAGCGATTCTCCTTCCTCAGCCTCCCCAGTAGCAGGGATTACAGGTGCGCACCACCATGTTTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGATGGACAGGCTGGTCTCAAACTCCTGACCTCAGGTGACCTGCCCACCTTGGCCTCCCGAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCCAAAAAAAATTTATTAAAAAAAAAAAAAAAAACTGCAAAACATTTTTTAAAAATTTAAAACATTAAAAAAAATTTTTTTAATGACTGCAGCTTGCATCTTGAGCACTCTTGGTCGCTTGTCACTTGTACTATTTCTCTCAGACCCCCCAACCTGGGGAAAGCCGCATCACGAACAGTCCTATGGAGAGGCCCACAGGGTGAGGCATTGAATCCTCCTGCCAACAGCCAAGTGGGTGAGCTTGAAAGCAGACTGCCAGCCCCAGTCTAATCTTCAGATATTGCGGGCTCTCCCTACAGCTTGACCGCAGCCTCATGAAAGGCCCTGAACCAGAACCACTCAGCCATGCCATTCCCAGCTTCCTGGCACCCAGAAACTGTATGAAATAATAAATGTTTATTGTTTAGGCTCACTCTCTTGGGTCAGTTTTAAGCTACCAAATTTGGGGGTAATTTGTTACACAGCAACAGATAACAGATATACTTCCCCATCAGACTTCAATAGCACTCAGAGCTGGGACCAGACCTGCTTCCCAGACTGATCTCCTATTTCCCATTCCTCCCTTGAGGGAGGGATCCAGGCCTGGTTTCTCTCTTTTTAGCTCAGCTCAACACATTGCTTGACACAGAAGAGATGTTCAATTAAATCTTTGTTGTATGAATGAACAGACGAATGATATAGATCTTCCCTTCAATACTCCTGTCCTTCCCTCCACCTCTTCACCAGCTCCAAGGAGGCATGCCCAGGCTGATGGCAAGGCCAGATCATAGAGGTTAGAGCAGGGTGACTTTTTCTCTTATAAAGCTTCTTCCATTCATTCAACAATCTCTACCAAGTACCTTCTTGGTTTTAGGAAGAAAACTAACGTACT
|
benign
| 334,590 |
Evaluate this variant at chromosome X, position 53251182, gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
benign
|
GCCACATCACAATTGAAAGAAAATCAGTATCTAATGAGAGCCTGCTCTATGCCAGGCTTGACATTCCCAGCAAGAACCGAGGAGAGGGCTGAGCACCTTCCCTCTGAGTCACAGACCCTCAGAGTAGGGAAGAAGTGAAGAGGTTACTTTGTTCCACGTCCCACATCCCACTCAGGCAGGTATCACCAACTTTCTCTGAGTGTTTCTGTAGACAAGGTGCCCCCTAGATTTCCAGGGAGCTGGGCCAAAATCTGGGTCACAGCTATCCCATATTCAGAACCCCAGAACCTTAGGACCCCACAAGGTTAAAATTTGGAAGGGACTGATGCCATAGGAGTCTCAGATCCATCACTTCCCAGTTGTATGACTTTGGACAATTCCTTTTGCTTCTCCAAGCCTTGGTTCCTTATCTACAAAATAGGAACACTACTGCCTGCCTTGCTGAGTTATTGTAAGAATTAAATATAGGTGGCAGTGTTTAATAAGCTATAAAGATGTAAGGCATTCAAGTAATGGCTTCCAATTACATCTAATGTTTTCCAATTACATCTAATATTTTCCAATTATTTTCTAATCAAATGTCACACTCCCACCTCACTCCTAAACACCTGGCAGAAGACCAGGCACCTAGAAAGAGCTTAGTCACAGTCACTGAAGGGTCCAGCACACCACCCTGCCCCCAACACCTCTTACATACACATTCTGCTAGTGGTAGGTGGAAAAATGGAAGCCCAGGGGAGGAATGCACCTTGCCCAGGGCTATGCAGTGAGTCTAGCCAAAGGCCGACTGAGGGGGCCAGGTCTCCTGTTTCCCAGACTAGGGCTCTTTCTACACCATATCACCTCCCCTCTAAAAAGGGAAGGTGGGGAGGACAAGGTTCAGAATCCATTTAGTGGGGTCATCTCACCCAAGATCAGACAGCCAGCCAGGGGCAGTACTGGGACCCGAGCCCAGGTGTGTTAAGGGACTCTCTACTCTGCCACCCTGTTGCCAATCCTCTTCCCTGAATGTCTGGGGAGAAATACCATTCCACAAAATGAAAGGATGGCAGAACGGGGATCACTGTGTGGAGTTCTGTCCCAGGAACCCAAGTGCATGTGGCAGGGTAGGAAGGGGTAAGCAGGCTAGAACGGGGAGCACGCACTTGTTGAAGAGGTTGAGGCCGATTCGGTAGTGCCGCCTCTGGACCACATCATTGTTGAAAGCTGGCGAGTCCCAGCTATGCCTTGTCTCCCGCTGGTAAGTCTGCTTGCACAGGCCGGTAGCCGGAGGCTCCCTTAGACTGTCCCGAGAAGAGGAGCCGGAGCTGCAGTTGATGGTCTCATTGGAATTGCTGGAGCTCTCAAGGCTCTCGTTATCTCCACCATCAGAGTTCTCGCCTGCTGCCTCGCACTTCCCCAACCTCCGACCCCCAGCCACACCACTGGGCCCAGTGCCACTGTTGGGGGCTGGTGGCAGGGGCCCTGGTGGGGCTGGGGCTGGGCCTTCAGGGGCTGGGTAGTGGCGGTGTGGGATCGGGGCCCTGCCTGGTGGCCCCTTGTGCTTCAGGGTCCCATGGGGGCTGCAGCCATCAGCCTCATACACCAGCTGGCGGTGGACAGAGCCGCGATCTGAGCGGTCACTCAGGTCCACGGAGCTGTCACTAGGAGGCTCAATGGTAAGCAGGGGAAGGTGGGCAGCCCGCAGCCGGAAATCCCGGCACTCCAAGCACCCGGGACCCCTGCGAGTGCCTTCCTCACGGCTACCGTCTTCCCGGGTTCCTGATGGCACTGGTGGAGGAACTGGCGGGAGAGGGGCTGGCGCCCAGAACTCGGGCCGGCCCTGGGGTGGGGGTTCTGTGCTGGGCAGTCGCTCAGGGGATTGTTGGGGAACTGTGTCATCCAGGTAGAGGGGAAGATCACTGAAGGATGTGGCTGAGCTGTCCTCTTGCTGTTCCTTTGACTCCCGCTTCTCCAGCTGGGCTGACCCTGGCTCCTCAGACATGGGCCCTGACGGGTGGCAGTTCAGGGCTTCGTCGATGGATTCAGCCAGAGACTTTACCTGTGCAAGGGGGGGAGGAGAGGAGGGAAAGGGAGAGAAAAGAAAGAAAGATAAAGGGAAGAATGGTGGAAGGTGGGAATGAGGGAGGGAGGTAAGGAAAAAGGGGGAGTCTTCCTGGTAGGTCAGCAAGGAGGGTGGATTCCCCTCCCCCAGCCCTGACAGGCTCTCTGTGGTCTGTAAAATGACTCCCAGGGAACCATTGTGAGCTCACAGGAGCTGAGACTAATGCCCACAAGTTCCCCACTCAGCTCACACCCCAATACCTCCTTTGTGTCCATTTAGACTCAAGCCAAACGTTACCTCCTCCCTGATTCAAGCCACATTCTTGCCTCTGCCATCCCCCAGAGTAAACCAAAATCCCAGTTTCCTCTGTGGGAATTCTCTTAGGAAATCCATAACATTTGACCTTGAGCATCTGGACCACAGCTGGTAATGCTCTCTCCCTGTGGTATCCAGACTCTAAACTGGCCGCTAATGATCCCTGCCTCCTGGTATTCACACCCTAGGGTACCACATTGTACCAGAGTTAGTCTGTGTGACAAACAGCATATGGCAGAAGCGAATGTATGTCACTTCTGAAATTAGGTTTTAAAAGACTGCAGAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCCCTTGAGCCCAGGAGTTCAAGAGCAGCCTGGGCAACATGGCGAGACTCTATCTCTACAAAAAATAAAAACATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTCAGGAGAGTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCTATGATCACGCCACTACACTCCAGCCTGGCAACAGAGCAAGATACTGTCTCTAAAATTTTTATTTGTTTGTTTGAGACAGAGTCTTGCTCTCACCCAGGCTGGAGTGCAGTGGCACGATCTCACCTCACTGCAACCTGCACCTCCCAGGTTCAAGCGATTCTCCTTCCTCAGCCTCCCCAGTAGCAGGGATTACAGGTGCGCACCACCATGTTTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGATGGACAGGCTGGTCTCAAACTCCTGACCTCAGGTGACCTGCCCACCTTGGCCTCCCGAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCCAAAAAAAATTTATTAAAAAAAAAAAAAAAAACTGCAAAACATTTTTTAAAAATTTAAAACATTAAAAAAAATTTTTTTAATGACTGCAGCTTGCATCTTGAGCACTCTTGGTCGCTTGTCACTTGTACTATTTCTCTCAGACCCCCCAACCTGGGGAAAGCCGCATCACGAACAGTCCTATGGAGAGGCCCACAGGGTGAGGCATTGAATCCTCCTGCCAACAGCCAAGTGGGTGAGCTTGAAAGCAGACTGCCAGCCCCAGTCTAATCTTCAGATATTGCGGGCTCTCCCTACAGCTTGACCGCAGCCTCATGAAAGGCCCTGAACCAGAACCACTCAGCCATGCCATTCCCAGCTTCCTGGCACCCAGAAACTGTATGAAATAATAAATGTTTATTGTTTAGGCTCACTCTCTTGGGTCAGTTTTAAGCTACCAAATTTGGGGGTAATTTGTTACACAGCAACAGATAACAGATATACTTCCCCATCAGACTTCAATAGCACTCAGAGCTGGGACCAGACCTGCTTCCCAGACTGATCTCCTATTTCCCATTCCTCCCTTGAGGGAGGGATCCAGGCCTGGTTTCTCTCTTTTTAGCTCAGCTCAACACATTGCTTGACACAGAAGAGATGTTCAATTAAATCTTTGTTGTATGAATGAACAGACGAATGATATAGATCTTCCCTTCAATACTCCTGTCCTTCCCTCCACCTCTTCACCAGCTCCAAGGAGGCATGCCCAGGCTGATGGCAAGGCCAGATCATAGAGGTTAGAGCAGGGTGACTTTTTCTCTTATAAAGCTTCTTCCATTCATTCAACAATCTCTACCAAGTACCTTCTTGGTTTTAGGAAGAAAACTAACGTACTT
|
GCCACATCACAATTGAAAGAAAATCAGTATCTAATGAGAGCCTGCTCTATGCCAGGCTTGACATTCCCAGCAAGAACCGAGGAGAGGGCTGAGCACCTTCCCTCTGAGTCACAGACCCTCAGAGTAGGGAAGAAGTGAAGAGGTTACTTTGTTCCACGTCCCACATCCCACTCAGGCAGGTATCACCAACTTTCTCTGAGTGTTTCTGTAGACAAGGTGCCCCCTAGATTTCCAGGGAGCTGGGCCAAAATCTGGGTCACAGCTATCCCATATTCAGAACCCCAGAACCTTAGGACCCCACAAGGTTAAAATTTGGAAGGGACTGATGCCATAGGAGTCTCAGATCCATCACTTCCCAGTTGTATGACTTTGGACAATTCCTTTTGCTTCTCCAAGCCTTGGTTCCTTATCTACAAAATAGGAACACTACTGCCTGCCTTGCTGAGTTATTGTAAGAATTAAATATAGGTGGCAGTGTTTAATAAGCTATAAAGATGTAAGGCATTCAAGTAATGGCTTCCAATTACATCTAATGTTTTCCAATTACATCTAATATTTTCCAATTATTTTCTAATCAAATGTCACACTCCCACCTCACTCCTAAACACCTGGCAGAAGACCAGGCACCTAGAAAGAGCTTAGTCACAGTCACTGAAGGGTCCAGCACACCACCCTGCCCCCAACACCTCTTACATACACATTCTGCTAGTGGTAGGTGGAAAAATGGAAGCCCAGGGGAGGAATGCACCTTGCCCAGGGCTATGCAGTGAGTCTAGCCAAAGGCCGACTGAGGGGGCCAGGTCTCCTGTTTCCCAGACTAGGGCTCTTTCTACACCATATCACCTCCCCTCTAAAAAGGGAAGGTGGGGAGGACAAGGTTCAGAATCCATTTAGTGGGGTCATCTCACCCAAGATCAGACAGCCAGCCAGGGGCAGTACTGGGACCCGAGCCCAGGTGTGTTAAGGGACTCTCTACTCTGCCACCCTGTTGCCAATCCTCTTCCCTGAATGTCTGGGGAGAAATACCATTCCACAAAATGAAAGGATGGCAGAACGGGGATCACTGTGTGGAGTTCTGTCCCAGGAACCCAAGTGCATGTGGCAGGGTAGGAAGGGGTAAGCAGGCTAGAACGGGGAGCACGCACTTGTTGAAGAGGTTGAGGCCGATTCGGTAGTGCCGCCTCTGGACCACATCATTGTTGAAAGCTGGCGAGTCCCAGCTATGCCTTGTCTCCCGCTGGTAAGTCTGCTTGCACAGGCCGGTAGCCGGAGGCTCCCTTAGACTGTCCCGAGAAGAGGAGCCGGAGCTGCAGTTGATGGTCTCATTGGAATTGCTGGAGCTCTCAAGGCTCTCGTTATCTCCACCATCAGAGTTCTCGCCTGCTGCCTCGCACTTCCCCAACCTCCGACCCCCAGCCACACCACTGGGCCCAGTGCCACTGTTGGGGGCTGGTGGCAGGGGCCCTGGTGGGGCTGGGGCTGGGCCTTCAGGGGCTGGGTAGTGGCGGTGTGGGATCGGGGCCCTGCCTGGTGGCCCCTTGTGCTTCAGGGTCCCATGGGGGCTGCAGCCATCAGCCTCATACACCAGCTGGCGGTGGACAGAGCCGCGATCTGAGCGGTCACTCAGGTCCACGGAGCTGTCACTAGGAGGCTCAATGGTAAGCAGGGGAAGGTGGGCAGCCCGCAGCCGGAAATCCCGGCACTCCAAGCACCCGGGACCCCTGCGAGTGCCTTCCTCACGGCTACCGTCTTCCCGGGTTCCTGATGGCACTGGTGGAGGAACTGGCGGGAGAGGGGCTGGCGCCCAGAACTCGGGCCGGCCCTGGGGTGGGGGTTCTGTGCTGGGCAGTCGCTCAGGGGATTGTTGGGGAACTGTGTCATCCAGGTAGAGGGGAAGATCACTGAAGGATGTGGCTGAGCTGTCCTCTTGCTGTTCCTTTGACTCCCGCTTCTCCAGCTGGGCTGACCCTGGCTCCTCAGACATGGGCCCTGACGGGTGGCAGTTCAGGGCTTCGTCGATGGATTCAGCCAGAGACTTTACCTGTGCAAGGGGGGAGGAGAGGAGGGAAAGGGAGAGAAAAGAAAGAAAGATAAAGGGAAGAATGGTGGAAGGTGGGAATGAGGGAGGGAGGTAAGGAAAAAGGGGGAGTCTTCCTGGTAGGTCAGCAAGGAGGGTGGATTCCCCTCCCCCAGCCCTGACAGGCTCTCTGTGGTCTGTAAAATGACTCCCAGGGAACCATTGTGAGCTCACAGGAGCTGAGACTAATGCCCACAAGTTCCCCACTCAGCTCACACCCCAATACCTCCTTTGTGTCCATTTAGACTCAAGCCAAACGTTACCTCCTCCCTGATTCAAGCCACATTCTTGCCTCTGCCATCCCCCAGAGTAAACCAAAATCCCAGTTTCCTCTGTGGGAATTCTCTTAGGAAATCCATAACATTTGACCTTGAGCATCTGGACCACAGCTGGTAATGCTCTCTCCCTGTGGTATCCAGACTCTAAACTGGCCGCTAATGATCCCTGCCTCCTGGTATTCACACCCTAGGGTACCACATTGTACCAGAGTTAGTCTGTGTGACAAACAGCATATGGCAGAAGCGAATGTATGTCACTTCTGAAATTAGGTTTTAAAAGACTGCAGAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCCCTTGAGCCCAGGAGTTCAAGAGCAGCCTGGGCAACATGGCGAGACTCTATCTCTACAAAAAATAAAAACATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTCAGGAGAGTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCTATGATCACGCCACTACACTCCAGCCTGGCAACAGAGCAAGATACTGTCTCTAAAATTTTTATTTGTTTGTTTGAGACAGAGTCTTGCTCTCACCCAGGCTGGAGTGCAGTGGCACGATCTCACCTCACTGCAACCTGCACCTCCCAGGTTCAAGCGATTCTCCTTCCTCAGCCTCCCCAGTAGCAGGGATTACAGGTGCGCACCACCATGTTTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGATGGACAGGCTGGTCTCAAACTCCTGACCTCAGGTGACCTGCCCACCTTGGCCTCCCGAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCCAAAAAAAATTTATTAAAAAAAAAAAAAAAAACTGCAAAACATTTTTTAAAAATTTAAAACATTAAAAAAAATTTTTTTAATGACTGCAGCTTGCATCTTGAGCACTCTTGGTCGCTTGTCACTTGTACTATTTCTCTCAGACCCCCCAACCTGGGGAAAGCCGCATCACGAACAGTCCTATGGAGAGGCCCACAGGGTGAGGCATTGAATCCTCCTGCCAACAGCCAAGTGGGTGAGCTTGAAAGCAGACTGCCAGCCCCAGTCTAATCTTCAGATATTGCGGGCTCTCCCTACAGCTTGACCGCAGCCTCATGAAAGGCCCTGAACCAGAACCACTCAGCCATGCCATTCCCAGCTTCCTGGCACCCAGAAACTGTATGAAATAATAAATGTTTATTGTTTAGGCTCACTCTCTTGGGTCAGTTTTAAGCTACCAAATTTGGGGGTAATTTGTTACACAGCAACAGATAACAGATATACTTCCCCATCAGACTTCAATAGCACTCAGAGCTGGGACCAGACCTGCTTCCCAGACTGATCTCCTATTTCCCATTCCTCCCTTGAGGGAGGGATCCAGGCCTGGTTTCTCTCTTTTTAGCTCAGCTCAACACATTGCTTGACACAGAAGAGATGTTCAATTAAATCTTTGTTGTATGAATGAACAGACGAATGATATAGATCTTCCCTTCAATACTCCTGTCCTTCCCTCCACCTCTTCACCAGCTCCAAGGAGGCATGCCCAGGCTGATGGCAAGGCCAGATCATAGAGGTTAGAGCAGGGTGACTTTTTCTCTTATAAAGCTTCTTCCATTCATTCAACAATCTCTACCAAGTACCTTCTTGGTTTTAGGAAGAAAACTAACGTACTTN
|
benign
| 334,591 |
Assess the variant on chromosome X, position 53255944, impacting IQSEC2 (IQ motif and Sec7 domain ArfGEF 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Intellectual_disability,_X-linked_1']
|
GAGTTAAGCTTTATTTTATAGTAGATCAAGTTCCAAGTAGTGAGAACTTTTTTCTTATTTGTTCTATACACCCATACATATTTTTTCCCACAAGAAGGGAACGACATGGAACACCCATATTTATAACTTGCTTGTTTTAACAATGTAATTTCTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTCCGGAGGTGATGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGTCACATACCTGCAATCCCAGCTACTCGGGAGAGTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGTGTCGAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAGGTAATTTCTATCTTACCAGTTCTTTCTCATTATTCTCACAGTCCCAACTCAAATGGTAGCTATTTGCTGTTATTAAATGCCTGTCACGCAACTTCTTTCAGTTTGCAATCTAGGTAAAAAGTAGCAGGAGTAGCCAGAACACGGGGATGGGGAAGAAAGGTCCTTTTCAGGGATCCTGACCTGTTTGGAGAAGGAGTCCTCAAGTTCTGTGATGTCATTAGAAAACTCTCCAGATGTGGTGACGGAGCTTCCACCACCATCGATGCCCCCACCACAGGAGCCTCCATATGGGAGCCCCCGTTCAAGCCGGTGGCTCCGGGCACCAGCCATGGCACCCTCGTCCAGCGAGGCAGGCTTGCCCTCGAAGTACGCGGGGTTCTGTGCCTTCTCATACTCCTCAAAGGAGAACTGCATCCGCATGTTGGAAAGGATGATGCGGCGGGACATGCGGCTCTCTGAGGCTGAGCTGCGTAGCCGCTCAAAGTTCTTGTTCATGCGGTACTGGCGGAAGGCTGTCTGGATGGTCCTGGCAGCCCTGCGGCTCAGGAAGGAGCCCCCATACTTCCTCTCCAGCATTTCCACCTGGCAGAGAAGGGTCGAGGGGAACAAGGTCAGAAAGTCATGGCAGCCTCATCTCCCTAGGCACTCAACCACACCACCCCCACTGGAATCATGGCTGACTGCTTACAGCCACCGAGAGCGCCAGGCTAGGTGCTCAGTGTTGTCTCCTCACTTGAATTTCAGATAACACTAGTCAAATGGGATTGGATTATGTTTTGTTTTCTTATTTGCAAGAAGAACATATTGATTATTTGAAAACAGGAAACAAACAGAGAAGCCAAAAAAAAAGAAAGCAAGGTAGAAATAAATGGAGAGCAAGAAGGAAAGAAAGGAGGAAGAAAGAGAATGAGAAAGGAGAAGGAGAGAGGGAGAGAGAAAGGCAGAGAAGGAAGGAAGGAAGGTAGGTAGGTAGGTTGAATTACCTACATTCCAAACACCTAAGCATAACTAGAATATGTCTTTTGGTGTAGGGTATATGTTTTTGTATATGTCCTTCCAGTTTTTTCCTATATGTAGTATTTTGTTTTCCCTCCACCTTTCTTTTTAGCCAAACAATCTATTGTATGGCACTCTTCTGAAAAGGTCAACTGATGTGTGTTCTTCCTGTTAGACTGAGTTTTTTGGGGACTGGATCCAGGACTCATTCATCTTTACATCGCCAGGACCCGGGCAGGGAGCTCAGTAAATGTTTCTTGAGTGAATACAAGCCTCAGTGGATGGGTGGTGAATGAGTGCATCCCCAGTGGGGTGAAGGGTCCTGGGCCAGTCTTCTCCAATTCCAGCCTCATTATCCCTCCCTGATACCACCCCCAAGAGCCACATCCCAAACCCTCCCCTGGCGCTCTCTTGCATCCCGACTCCCATTCCCAACCAGATGCCTCTGTTGCACCTTCTTGTCCTGCAGGTCTGTGGAGAGTTCATAGCTGTCCGATAGGGCCTTGGAGCGCTTTATCTCCTCCTCCTCCTGCTTCCTCAGGGCGACACTGGCTGGCTGGAGGCGTGCCCGCTGAGCCCAGGGAAGGCCCACTCCAGCAGGGGGGCCCCCCATGTGGCTGCTGGAGGGGGGCAGCTGGCTCAGCCGGTAGGGGGGTTGGCTCCCAGGACTATCAACCGCTGTGCTCAGGTCACTGCCTGGGGCATCACCCTCCACACTGTGGGGATGAGATAAGATGAGCCAGGATGTGGGGACAGGACAGGGGCCTACTGGGCCATACTGAGAGTGGGTGAGCCAGATCCCTGCCCCCCATCCCATCCACCCCAGCTTCCTCACAGATATAGGGACCCAACACTTACAGGCCACGGTGAGTCCTAGCTCTTGGACGTCTCCCCACTCCCACCCAAGTCCCCTCCCTTCCAGCCCCCCTGCCTTTACGGCAAGATCCTCTTAGACTCCTTTCCCTCAAGGCTCTGCCTGGTCCCCAGTCCTCCTCACCCCTCACAGCCTTCTCCCCTAGACCACTCTCCTCCCAGTCTTGTCTCCTCATGCCCTTTCTTCTGCCCCCTCACAGCTCCACCCCTCCCCACAGACCTCTTCCCCTTACAGCTCCATCCCCTCCTGGCCTTGTCCCCAACGCAGTGCTCGCTGTGATTTCCCTCCCAGTCCGATTCCCAGCACCACCCCAGACTAGCTCCTTCAAAGCGCCACCCCCTCCCAGCCCTGTCCCAGCTGTGTGAGGCCCACCCCTGCACACAGCTCTCCCCTCATCCGCCCAGCCCTGTCCCCTGCAGCCTGGCCCCTGCCCCCTGGTGCCTGGACTCCGGGCCAGGCCAAGCCAGTTCCCAGGGTTCCCTGGTTGCGAGGGCAGGGCCAGCAGCAGGGCAGGGCGAGCAGCAACAGTGGGAGGCGCCTCCCATCCAGCATCCTCACAGGTAAAGAGCAGCCCTGCGGGGCAGCTTCCTTTTTCTCCTCATGGCCTCCTCTGCTCAGCTGGGGGAAGGGGGCAGGGGAGTCTCCACGCGTGGCAGGAGCTGGGCCCCGGGTCTTGCCTGCCCTGGTTTCCCAGAGCTGTTGTTCCACCAGAACTGCTCCCATGGTGCCATGGCAACCAGGCTGCCAGGGAACCCAGGTGGCGACAGAGCCCAGGCGCCTTGAGCCGAGCCTGCACGGTGAAGAGCCACAGAGGTGGGGAAGACAGGGAAGGAGTCGGGCGGGAAGGAACACGCAGGTGAGGCATGGAGGAGGCTGTGGGGGGAATGGGTGTGGCTGGGACCCAGAGAATGGTCTCATTATGGGGGGCACAAGGTTGGAGGCTCTTGGCTGGTAAACAGGTGAAGGGGTACTCCCCAGCCCCTATTCGGCAGAGGCAAAGGCAAAGGGCAGAAATGGGCTGGGGTAGGTACTGGGGGGGACCCTACCAGTGCAGGAGCTGGAACTGCAACAGGCCTGCCAGCCTTGCAGCAGAGCGCTTTGCACTGGGGGCTGGATGTGGTGTGAAGGCTGCGCCCACGAGGCCCGGTCCCGGGCTGCAGCGCTGTGGAGCTCGGCTCCGCCCTGGGGAGAGCTCCCACCCATCGCTCGCTCTCCACCCCAAATTCTCTCTCCTCCTGGGCCTGGGGCGGTGGCCCTGACATCACCCCCACTCCAGGGTTCAGCCCCAGCTCAGCCCACCCCCGGCATCCAAGATGTTCCTCTCCTCCCTGCCAGGACTGCAGGATCTTGCCCATTAATCTCTCAAACCTCCCCTCCCAGCACACGGCTCAAGCCCAGTTTTGATCAACTGTCTCCTGTATGCATGAACCATCATCTATAACTTCCACTGCTCAGAAGAGATAGCCCAAGTCCCTTATTCTGGCATTTGAGGCTTCTCCAAGATACAACAGCTAATATTTATAGACCATTTAGCACATTTAGGTACCATTCTTACCACTTCACACTGAATAACTTGCTTGCTCTTCAAGACAACCGTATGAGGTAGGTACTGTAATTTATCTTCATTTTACACATAAAGAAACTGAGGCCCAGAGAGGTTAAGTAACATATCTATGGTCACACAGCTACTAATGATAGAGCCAGGATTCAAATCCAGGCAGTCTGACTCCAGAGCCCACACTCTTAAACATTAAGCCATACTTCAGGGTTGG
|
GAGTTAAGCTTTATTTTATAGTAGATCAAGTTCCAAGTAGTGAGAACTTTTTTCTTATTTGTTCTATACACCCATACATATTTTTTCCCACAAGAAGGGAACGACATGGAACACCCATATTTATAACTTGCTTGTTTTAACAATGTAATTTCTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTCCGGAGGTGATGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGTCACATACCTGCAATCCCAGCTACTCGGGAGAGTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGTGTCGAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAGGTAATTTCTATCTTACCAGTTCTTTCTCATTATTCTCACAGTCCCAACTCAAATGGTAGCTATTTGCTGTTATTAAATGCCTGTCACGCAACTTCTTTCAGTTTGCAATCTAGGTAAAAAGTAGCAGGAGTAGCCAGAACACGGGGATGGGGAAGAAAGGTCCTTTTCAGGGATCCTGACCTGTTTGGAGAAGGAGTCCTCAAGTTCTGTGATGTCATTAGAAAACTCTCCAGATGTGGTGACGGAGCTTCCACCACCATCGATGCCCCCACCACAGGAGCCTCCATATGGGAGCCCCCGTTCAAGCCGGTGGCTCCGGGCACCAGCCATGGCACCCTCGTCCAGCGAGGCAGGCTTGCCCTCGAAGTACGCGGGGTTCTGTGCCTTCTCATACTCCTCAAAGGAGAACTGCATCCGCATGTTGGAAAGGATGATGCGGCGGGACATGCGGCTCTCTGAGGCTGAGCTGCGTAGCCGCTCAAAGTTCTTGTTCATGCGGTACTGGCGGAAGGCTGTCTGGATGGTCCTGGCAGCCCTGCGGCTCAGGAAGGAGCCCCCATACTTCCTCTCCAGCATTTCCACCTGGCAGAGAAGGGTCGAGGGGAACAAGGTCAGAAAGTCATGGCAGCCTCATCTCCCTAGGCACTCAACCACACCACCCCCACTGGAATCATGGCTGACTGCTTACAGCCACCGAGAGCGCCAGGCTAGGTGCTCAGTGTTGTCTCCTCACTTGAATTTCAGATAACACTAGTCAAATGGGATTGGATTATGTTTTGTTTTCTTATTTGCAAGAAGAACATATTGATTATTTGAAAACAGGAAACAAACAGAGAAGCCAAAAAAAAAGAAAGCAAGGTAGAAATAAATGGAGAGCAAGAAGGAAAGAAAGGAGGAAGAAAGAGAATGAGAAAGGAGAAGGAGAGAGGGAGAGAGAAAGGCAGAGAAGGAAGGAAGGAAGGTAGGTAGGTAGGTTGAATTACCTACATTCCAAACACCTAAGCATAACTAGAATATGTCTTTTGGTGTAGGGTATATGTTTTTGTATATGTCCTTCCAGTTTTTTCCTATATGTAGTATTTTGTTTTCCCTCCACCTTTCTTTTTAGCCAAACAATCTATTGTATGGCACTCTTCTGAAAAGGTCAACTGATGTGTGTTCTTCCTGTTAGACTGAGTTTTTTGGGGACTGGATCCAGGACTCATTCATCTTTACATCGCCAGGACCCGGGCAGGGAGCTCAGTAAATGTTTCTTGAGTGAATACAAGCCTCAGTGGATGGGTGGTGAATGAGTGCATCCCCAGTGGGGTGAAGGGTCCTGGGCCAGTCTTCTCCAATTCCAGCCTCATTATCCCTCCCTGATACCACCCCCAAGAGCCACATCCCAAACCCTCCCCTGGCGCTCTCTTGCATCCCGACTCCCATTCCCAACCAGATGCCTCTGTTGCACCTTCTTGTCCTGCAGGTCTGTGGAGAGTTCATAGCTGTCCGATAGGGCCTTGGAGCGCTTTATCTCCTCCTCCTCCTGCTTCCTCAGGGCGACACTGGCTGGCTGGAGGCGTGCCCGCTGAGCCCAGGGAAGGCCCACTCCAGCAGGGGGCCCCCCATGTGGCTGCTGGAGGGGGGCAGCTGGCTCAGCCGGTAGGGGGGTTGGCTCCCAGGACTATCAACCGCTGTGCTCAGGTCACTGCCTGGGGCATCACCCTCCACACTGTGGGGATGAGATAAGATGAGCCAGGATGTGGGGACAGGACAGGGGCCTACTGGGCCATACTGAGAGTGGGTGAGCCAGATCCCTGCCCCCCATCCCATCCACCCCAGCTTCCTCACAGATATAGGGACCCAACACTTACAGGCCACGGTGAGTCCTAGCTCTTGGACGTCTCCCCACTCCCACCCAAGTCCCCTCCCTTCCAGCCCCCCTGCCTTTACGGCAAGATCCTCTTAGACTCCTTTCCCTCAAGGCTCTGCCTGGTCCCCAGTCCTCCTCACCCCTCACAGCCTTCTCCCCTAGACCACTCTCCTCCCAGTCTTGTCTCCTCATGCCCTTTCTTCTGCCCCCTCACAGCTCCACCCCTCCCCACAGACCTCTTCCCCTTACAGCTCCATCCCCTCCTGGCCTTGTCCCCAACGCAGTGCTCGCTGTGATTTCCCTCCCAGTCCGATTCCCAGCACCACCCCAGACTAGCTCCTTCAAAGCGCCACCCCCTCCCAGCCCTGTCCCAGCTGTGTGAGGCCCACCCCTGCACACAGCTCTCCCCTCATCCGCCCAGCCCTGTCCCCTGCAGCCTGGCCCCTGCCCCCTGGTGCCTGGACTCCGGGCCAGGCCAAGCCAGTTCCCAGGGTTCCCTGGTTGCGAGGGCAGGGCCAGCAGCAGGGCAGGGCGAGCAGCAACAGTGGGAGGCGCCTCCCATCCAGCATCCTCACAGGTAAAGAGCAGCCCTGCGGGGCAGCTTCCTTTTTCTCCTCATGGCCTCCTCTGCTCAGCTGGGGGAAGGGGGCAGGGGAGTCTCCACGCGTGGCAGGAGCTGGGCCCCGGGTCTTGCCTGCCCTGGTTTCCCAGAGCTGTTGTTCCACCAGAACTGCTCCCATGGTGCCATGGCAACCAGGCTGCCAGGGAACCCAGGTGGCGACAGAGCCCAGGCGCCTTGAGCCGAGCCTGCACGGTGAAGAGCCACAGAGGTGGGGAAGACAGGGAAGGAGTCGGGCGGGAAGGAACACGCAGGTGAGGCATGGAGGAGGCTGTGGGGGGAATGGGTGTGGCTGGGACCCAGAGAATGGTCTCATTATGGGGGGCACAAGGTTGGAGGCTCTTGGCTGGTAAACAGGTGAAGGGGTACTCCCCAGCCCCTATTCGGCAGAGGCAAAGGCAAAGGGCAGAAATGGGCTGGGGTAGGTACTGGGGGGGACCCTACCAGTGCAGGAGCTGGAACTGCAACAGGCCTGCCAGCCTTGCAGCAGAGCGCTTTGCACTGGGGGCTGGATGTGGTGTGAAGGCTGCGCCCACGAGGCCCGGTCCCGGGCTGCAGCGCTGTGGAGCTCGGCTCCGCCCTGGGGAGAGCTCCCACCCATCGCTCGCTCTCCACCCCAAATTCTCTCTCCTCCTGGGCCTGGGGCGGTGGCCCTGACATCACCCCCACTCCAGGGTTCAGCCCCAGCTCAGCCCACCCCCGGCATCCAAGATGTTCCTCTCCTCCCTGCCAGGACTGCAGGATCTTGCCCATTAATCTCTCAAACCTCCCCTCCCAGCACACGGCTCAAGCCCAGTTTTGATCAACTGTCTCCTGTATGCATGAACCATCATCTATAACTTCCACTGCTCAGAAGAGATAGCCCAAGTCCCTTATTCTGGCATTTGAGGCTTCTCCAAGATACAACAGCTAATATTTATAGACCATTTAGCACATTTAGGTACCATTCTTACCACTTCACACTGAATAACTTGCTTGCTCTTCAAGACAACCGTATGAGGTAGGTACTGTAATTTATCTTCATTTTACACATAAAGAAACTGAGGCCCAGAGAGGTTAAGTAACATATCTATGGTCACACAGCTACTAATGATAGAGCCAGGATTCAAATCCAGGCAGTCTGACTCCAGAGCCCACACTCTTAAACATTAAGCCATACTTCAGGGTTGGN
|
pathogenic
| 334,604 |
Clinically, how would you classify the variant at chromosome X, position 53255950, gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability,_X-linked_1']
|
AGCTTTATTTTATAGTAGATCAAGTTCCAAGTAGTGAGAACTTTTTTCTTATTTGTTCTATACACCCATACATATTTTTTCCCACAAGAAGGGAACGACATGGAACACCCATATTTATAACTTGCTTGTTTTAACAATGTAATTTCTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTCCGGAGGTGATGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGTCACATACCTGCAATCCCAGCTACTCGGGAGAGTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGTGTCGAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAGGTAATTTCTATCTTACCAGTTCTTTCTCATTATTCTCACAGTCCCAACTCAAATGGTAGCTATTTGCTGTTATTAAATGCCTGTCACGCAACTTCTTTCAGTTTGCAATCTAGGTAAAAAGTAGCAGGAGTAGCCAGAACACGGGGATGGGGAAGAAAGGTCCTTTTCAGGGATCCTGACCTGTTTGGAGAAGGAGTCCTCAAGTTCTGTGATGTCATTAGAAAACTCTCCAGATGTGGTGACGGAGCTTCCACCACCATCGATGCCCCCACCACAGGAGCCTCCATATGGGAGCCCCCGTTCAAGCCGGTGGCTCCGGGCACCAGCCATGGCACCCTCGTCCAGCGAGGCAGGCTTGCCCTCGAAGTACGCGGGGTTCTGTGCCTTCTCATACTCCTCAAAGGAGAACTGCATCCGCATGTTGGAAAGGATGATGCGGCGGGACATGCGGCTCTCTGAGGCTGAGCTGCGTAGCCGCTCAAAGTTCTTGTTCATGCGGTACTGGCGGAAGGCTGTCTGGATGGTCCTGGCAGCCCTGCGGCTCAGGAAGGAGCCCCCATACTTCCTCTCCAGCATTTCCACCTGGCAGAGAAGGGTCGAGGGGAACAAGGTCAGAAAGTCATGGCAGCCTCATCTCCCTAGGCACTCAACCACACCACCCCCACTGGAATCATGGCTGACTGCTTACAGCCACCGAGAGCGCCAGGCTAGGTGCTCAGTGTTGTCTCCTCACTTGAATTTCAGATAACACTAGTCAAATGGGATTGGATTATGTTTTGTTTTCTTATTTGCAAGAAGAACATATTGATTATTTGAAAACAGGAAACAAACAGAGAAGCCAAAAAAAAAGAAAGCAAGGTAGAAATAAATGGAGAGCAAGAAGGAAAGAAAGGAGGAAGAAAGAGAATGAGAAAGGAGAAGGAGAGAGGGAGAGAGAAAGGCAGAGAAGGAAGGAAGGAAGGTAGGTAGGTAGGTTGAATTACCTACATTCCAAACACCTAAGCATAACTAGAATATGTCTTTTGGTGTAGGGTATATGTTTTTGTATATGTCCTTCCAGTTTTTTCCTATATGTAGTATTTTGTTTTCCCTCCACCTTTCTTTTTAGCCAAACAATCTATTGTATGGCACTCTTCTGAAAAGGTCAACTGATGTGTGTTCTTCCTGTTAGACTGAGTTTTTTGGGGACTGGATCCAGGACTCATTCATCTTTACATCGCCAGGACCCGGGCAGGGAGCTCAGTAAATGTTTCTTGAGTGAATACAAGCCTCAGTGGATGGGTGGTGAATGAGTGCATCCCCAGTGGGGTGAAGGGTCCTGGGCCAGTCTTCTCCAATTCCAGCCTCATTATCCCTCCCTGATACCACCCCCAAGAGCCACATCCCAAACCCTCCCCTGGCGCTCTCTTGCATCCCGACTCCCATTCCCAACCAGATGCCTCTGTTGCACCTTCTTGTCCTGCAGGTCTGTGGAGAGTTCATAGCTGTCCGATAGGGCCTTGGAGCGCTTTATCTCCTCCTCCTCCTGCTTCCTCAGGGCGACACTGGCTGGCTGGAGGCGTGCCCGCTGAGCCCAGGGAAGGCCCACTCCAGCAGGGGGGCCCCCCATGTGGCTGCTGGAGGGGGGCAGCTGGCTCAGCCGGTAGGGGGGTTGGCTCCCAGGACTATCAACCGCTGTGCTCAGGTCACTGCCTGGGGCATCACCCTCCACACTGTGGGGATGAGATAAGATGAGCCAGGATGTGGGGACAGGACAGGGGCCTACTGGGCCATACTGAGAGTGGGTGAGCCAGATCCCTGCCCCCCATCCCATCCACCCCAGCTTCCTCACAGATATAGGGACCCAACACTTACAGGCCACGGTGAGTCCTAGCTCTTGGACGTCTCCCCACTCCCACCCAAGTCCCCTCCCTTCCAGCCCCCCTGCCTTTACGGCAAGATCCTCTTAGACTCCTTTCCCTCAAGGCTCTGCCTGGTCCCCAGTCCTCCTCACCCCTCACAGCCTTCTCCCCTAGACCACTCTCCTCCCAGTCTTGTCTCCTCATGCCCTTTCTTCTGCCCCCTCACAGCTCCACCCCTCCCCACAGACCTCTTCCCCTTACAGCTCCATCCCCTCCTGGCCTTGTCCCCAACGCAGTGCTCGCTGTGATTTCCCTCCCAGTCCGATTCCCAGCACCACCCCAGACTAGCTCCTTCAAAGCGCCACCCCCTCCCAGCCCTGTCCCAGCTGTGTGAGGCCCACCCCTGCACACAGCTCTCCCCTCATCCGCCCAGCCCTGTCCCCTGCAGCCTGGCCCCTGCCCCCTGGTGCCTGGACTCCGGGCCAGGCCAAGCCAGTTCCCAGGGTTCCCTGGTTGCGAGGGCAGGGCCAGCAGCAGGGCAGGGCGAGCAGCAACAGTGGGAGGCGCCTCCCATCCAGCATCCTCACAGGTAAAGAGCAGCCCTGCGGGGCAGCTTCCTTTTTCTCCTCATGGCCTCCTCTGCTCAGCTGGGGGAAGGGGGCAGGGGAGTCTCCACGCGTGGCAGGAGCTGGGCCCCGGGTCTTGCCTGCCCTGGTTTCCCAGAGCTGTTGTTCCACCAGAACTGCTCCCATGGTGCCATGGCAACCAGGCTGCCAGGGAACCCAGGTGGCGACAGAGCCCAGGCGCCTTGAGCCGAGCCTGCACGGTGAAGAGCCACAGAGGTGGGGAAGACAGGGAAGGAGTCGGGCGGGAAGGAACACGCAGGTGAGGCATGGAGGAGGCTGTGGGGGGAATGGGTGTGGCTGGGACCCAGAGAATGGTCTCATTATGGGGGGCACAAGGTTGGAGGCTCTTGGCTGGTAAACAGGTGAAGGGGTACTCCCCAGCCCCTATTCGGCAGAGGCAAAGGCAAAGGGCAGAAATGGGCTGGGGTAGGTACTGGGGGGGACCCTACCAGTGCAGGAGCTGGAACTGCAACAGGCCTGCCAGCCTTGCAGCAGAGCGCTTTGCACTGGGGGCTGGATGTGGTGTGAAGGCTGCGCCCACGAGGCCCGGTCCCGGGCTGCAGCGCTGTGGAGCTCGGCTCCGCCCTGGGGAGAGCTCCCACCCATCGCTCGCTCTCCACCCCAAATTCTCTCTCCTCCTGGGCCTGGGGCGGTGGCCCTGACATCACCCCCACTCCAGGGTTCAGCCCCAGCTCAGCCCACCCCCGGCATCCAAGATGTTCCTCTCCTCCCTGCCAGGACTGCAGGATCTTGCCCATTAATCTCTCAAACCTCCCCTCCCAGCACACGGCTCAAGCCCAGTTTTGATCAACTGTCTCCTGTATGCATGAACCATCATCTATAACTTCCACTGCTCAGAAGAGATAGCCCAAGTCCCTTATTCTGGCATTTGAGGCTTCTCCAAGATACAACAGCTAATATTTATAGACCATTTAGCACATTTAGGTACCATTCTTACCACTTCACACTGAATAACTTGCTTGCTCTTCAAGACAACCGTATGAGGTAGGTACTGTAATTTATCTTCATTTTACACATAAAGAAACTGAGGCCCAGAGAGGTTAAGTAACATATCTATGGTCACACAGCTACTAATGATAGAGCCAGGATTCAAATCCAGGCAGTCTGACTCCAGAGCCCACACTCTTAAACATTAAGCCATACTTCAGGGTTGGCTGCCA
|
AGCTTTATTTTATAGTAGATCAAGTTCCAAGTAGTGAGAACTTTTTTCTTATTTGTTCTATACACCCATACATATTTTTTCCCACAAGAAGGGAACGACATGGAACACCCATATTTATAACTTGCTTGTTTTAACAATGTAATTTCTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTCCGGAGGTGATGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGTCACATACCTGCAATCCCAGCTACTCGGGAGAGTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGTGTCGAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAGGTAATTTCTATCTTACCAGTTCTTTCTCATTATTCTCACAGTCCCAACTCAAATGGTAGCTATTTGCTGTTATTAAATGCCTGTCACGCAACTTCTTTCAGTTTGCAATCTAGGTAAAAAGTAGCAGGAGTAGCCAGAACACGGGGATGGGGAAGAAAGGTCCTTTTCAGGGATCCTGACCTGTTTGGAGAAGGAGTCCTCAAGTTCTGTGATGTCATTAGAAAACTCTCCAGATGTGGTGACGGAGCTTCCACCACCATCGATGCCCCCACCACAGGAGCCTCCATATGGGAGCCCCCGTTCAAGCCGGTGGCTCCGGGCACCAGCCATGGCACCCTCGTCCAGCGAGGCAGGCTTGCCCTCGAAGTACGCGGGGTTCTGTGCCTTCTCATACTCCTCAAAGGAGAACTGCATCCGCATGTTGGAAAGGATGATGCGGCGGGACATGCGGCTCTCTGAGGCTGAGCTGCGTAGCCGCTCAAAGTTCTTGTTCATGCGGTACTGGCGGAAGGCTGTCTGGATGGTCCTGGCAGCCCTGCGGCTCAGGAAGGAGCCCCCATACTTCCTCTCCAGCATTTCCACCTGGCAGAGAAGGGTCGAGGGGAACAAGGTCAGAAAGTCATGGCAGCCTCATCTCCCTAGGCACTCAACCACACCACCCCCACTGGAATCATGGCTGACTGCTTACAGCCACCGAGAGCGCCAGGCTAGGTGCTCAGTGTTGTCTCCTCACTTGAATTTCAGATAACACTAGTCAAATGGGATTGGATTATGTTTTGTTTTCTTATTTGCAAGAAGAACATATTGATTATTTGAAAACAGGAAACAAACAGAGAAGCCAAAAAAAAAGAAAGCAAGGTAGAAATAAATGGAGAGCAAGAAGGAAAGAAAGGAGGAAGAAAGAGAATGAGAAAGGAGAAGGAGAGAGGGAGAGAGAAAGGCAGAGAAGGAAGGAAGGAAGGTAGGTAGGTAGGTTGAATTACCTACATTCCAAACACCTAAGCATAACTAGAATATGTCTTTTGGTGTAGGGTATATGTTTTTGTATATGTCCTTCCAGTTTTTTCCTATATGTAGTATTTTGTTTTCCCTCCACCTTTCTTTTTAGCCAAACAATCTATTGTATGGCACTCTTCTGAAAAGGTCAACTGATGTGTGTTCTTCCTGTTAGACTGAGTTTTTTGGGGACTGGATCCAGGACTCATTCATCTTTACATCGCCAGGACCCGGGCAGGGAGCTCAGTAAATGTTTCTTGAGTGAATACAAGCCTCAGTGGATGGGTGGTGAATGAGTGCATCCCCAGTGGGGTGAAGGGTCCTGGGCCAGTCTTCTCCAATTCCAGCCTCATTATCCCTCCCTGATACCACCCCCAAGAGCCACATCCCAAACCCTCCCCTGGCGCTCTCTTGCATCCCGACTCCCATTCCCAACCAGATGCCTCTGTTGCACCTTCTTGTCCTGCAGGTCTGTGGAGAGTTCATAGCTGTCCGATAGGGCCTTGGAGCGCTTTATCTCCTCCTCCTCCTGCTTCCTCAGGGCGACACTGGCTGGCTGGAGGCGTGCCCGCTGAGCCCAGGGAAGGCCCACTCCAGCAGGGGGGCCCCCCCATGTGGCTGCTGGAGGGGGGCAGCTGGCTCAGCCGGTAGGGGGGTTGGCTCCCAGGACTATCAACCGCTGTGCTCAGGTCACTGCCTGGGGCATCACCCTCCACACTGTGGGGATGAGATAAGATGAGCCAGGATGTGGGGACAGGACAGGGGCCTACTGGGCCATACTGAGAGTGGGTGAGCCAGATCCCTGCCCCCCATCCCATCCACCCCAGCTTCCTCACAGATATAGGGACCCAACACTTACAGGCCACGGTGAGTCCTAGCTCTTGGACGTCTCCCCACTCCCACCCAAGTCCCCTCCCTTCCAGCCCCCCTGCCTTTACGGCAAGATCCTCTTAGACTCCTTTCCCTCAAGGCTCTGCCTGGTCCCCAGTCCTCCTCACCCCTCACAGCCTTCTCCCCTAGACCACTCTCCTCCCAGTCTTGTCTCCTCATGCCCTTTCTTCTGCCCCCTCACAGCTCCACCCCTCCCCACAGACCTCTTCCCCTTACAGCTCCATCCCCTCCTGGCCTTGTCCCCAACGCAGTGCTCGCTGTGATTTCCCTCCCAGTCCGATTCCCAGCACCACCCCAGACTAGCTCCTTCAAAGCGCCACCCCCTCCCAGCCCTGTCCCAGCTGTGTGAGGCCCACCCCTGCACACAGCTCTCCCCTCATCCGCCCAGCCCTGTCCCCTGCAGCCTGGCCCCTGCCCCCTGGTGCCTGGACTCCGGGCCAGGCCAAGCCAGTTCCCAGGGTTCCCTGGTTGCGAGGGCAGGGCCAGCAGCAGGGCAGGGCGAGCAGCAACAGTGGGAGGCGCCTCCCATCCAGCATCCTCACAGGTAAAGAGCAGCCCTGCGGGGCAGCTTCCTTTTTCTCCTCATGGCCTCCTCTGCTCAGCTGGGGGAAGGGGGCAGGGGAGTCTCCACGCGTGGCAGGAGCTGGGCCCCGGGTCTTGCCTGCCCTGGTTTCCCAGAGCTGTTGTTCCACCAGAACTGCTCCCATGGTGCCATGGCAACCAGGCTGCCAGGGAACCCAGGTGGCGACAGAGCCCAGGCGCCTTGAGCCGAGCCTGCACGGTGAAGAGCCACAGAGGTGGGGAAGACAGGGAAGGAGTCGGGCGGGAAGGAACACGCAGGTGAGGCATGGAGGAGGCTGTGGGGGGAATGGGTGTGGCTGGGACCCAGAGAATGGTCTCATTATGGGGGGCACAAGGTTGGAGGCTCTTGGCTGGTAAACAGGTGAAGGGGTACTCCCCAGCCCCTATTCGGCAGAGGCAAAGGCAAAGGGCAGAAATGGGCTGGGGTAGGTACTGGGGGGGACCCTACCAGTGCAGGAGCTGGAACTGCAACAGGCCTGCCAGCCTTGCAGCAGAGCGCTTTGCACTGGGGGCTGGATGTGGTGTGAAGGCTGCGCCCACGAGGCCCGGTCCCGGGCTGCAGCGCTGTGGAGCTCGGCTCCGCCCTGGGGAGAGCTCCCACCCATCGCTCGCTCTCCACCCCAAATTCTCTCTCCTCCTGGGCCTGGGGCGGTGGCCCTGACATCACCCCCACTCCAGGGTTCAGCCCCAGCTCAGCCCACCCCCGGCATCCAAGATGTTCCTCTCCTCCCTGCCAGGACTGCAGGATCTTGCCCATTAATCTCTCAAACCTCCCCTCCCAGCACACGGCTCAAGCCCAGTTTTGATCAACTGTCTCCTGTATGCATGAACCATCATCTATAACTTCCACTGCTCAGAAGAGATAGCCCAAGTCCCTTATTCTGGCATTTGAGGCTTCTCCAAGATACAACAGCTAATATTTATAGACCATTTAGCACATTTAGGTACCATTCTTACCACTTCACACTGAATAACTTGCTTGCTCTTCAAGACAACCGTATGAGGTAGGTACTGTAATTTATCTTCATTTTACACATAAAGAAACTGAGGCCCAGAGAGGTTAAGTAACATATCTATGGTCACACAGCTACTAATGATAGAGCCAGGATTCAAATCCAGGCAGTCTGACTCCAGAGCCCACACTCTTAAACATTAAGCCATACTTCAGGGTTGGCTGCC
|
pathogenic
| 334,605 |
Considering the variant on chromosome X, location 53255950, involving gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Intellectual_disability,_X-linked_1']
|
AGCTTTATTTTATAGTAGATCAAGTTCCAAGTAGTGAGAACTTTTTTCTTATTTGTTCTATACACCCATACATATTTTTTCCCACAAGAAGGGAACGACATGGAACACCCATATTTATAACTTGCTTGTTTTAACAATGTAATTTCTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTCCGGAGGTGATGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGTCACATACCTGCAATCCCAGCTACTCGGGAGAGTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGTGTCGAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAGGTAATTTCTATCTTACCAGTTCTTTCTCATTATTCTCACAGTCCCAACTCAAATGGTAGCTATTTGCTGTTATTAAATGCCTGTCACGCAACTTCTTTCAGTTTGCAATCTAGGTAAAAAGTAGCAGGAGTAGCCAGAACACGGGGATGGGGAAGAAAGGTCCTTTTCAGGGATCCTGACCTGTTTGGAGAAGGAGTCCTCAAGTTCTGTGATGTCATTAGAAAACTCTCCAGATGTGGTGACGGAGCTTCCACCACCATCGATGCCCCCACCACAGGAGCCTCCATATGGGAGCCCCCGTTCAAGCCGGTGGCTCCGGGCACCAGCCATGGCACCCTCGTCCAGCGAGGCAGGCTTGCCCTCGAAGTACGCGGGGTTCTGTGCCTTCTCATACTCCTCAAAGGAGAACTGCATCCGCATGTTGGAAAGGATGATGCGGCGGGACATGCGGCTCTCTGAGGCTGAGCTGCGTAGCCGCTCAAAGTTCTTGTTCATGCGGTACTGGCGGAAGGCTGTCTGGATGGTCCTGGCAGCCCTGCGGCTCAGGAAGGAGCCCCCATACTTCCTCTCCAGCATTTCCACCTGGCAGAGAAGGGTCGAGGGGAACAAGGTCAGAAAGTCATGGCAGCCTCATCTCCCTAGGCACTCAACCACACCACCCCCACTGGAATCATGGCTGACTGCTTACAGCCACCGAGAGCGCCAGGCTAGGTGCTCAGTGTTGTCTCCTCACTTGAATTTCAGATAACACTAGTCAAATGGGATTGGATTATGTTTTGTTTTCTTATTTGCAAGAAGAACATATTGATTATTTGAAAACAGGAAACAAACAGAGAAGCCAAAAAAAAAGAAAGCAAGGTAGAAATAAATGGAGAGCAAGAAGGAAAGAAAGGAGGAAGAAAGAGAATGAGAAAGGAGAAGGAGAGAGGGAGAGAGAAAGGCAGAGAAGGAAGGAAGGAAGGTAGGTAGGTAGGTTGAATTACCTACATTCCAAACACCTAAGCATAACTAGAATATGTCTTTTGGTGTAGGGTATATGTTTTTGTATATGTCCTTCCAGTTTTTTCCTATATGTAGTATTTTGTTTTCCCTCCACCTTTCTTTTTAGCCAAACAATCTATTGTATGGCACTCTTCTGAAAAGGTCAACTGATGTGTGTTCTTCCTGTTAGACTGAGTTTTTTGGGGACTGGATCCAGGACTCATTCATCTTTACATCGCCAGGACCCGGGCAGGGAGCTCAGTAAATGTTTCTTGAGTGAATACAAGCCTCAGTGGATGGGTGGTGAATGAGTGCATCCCCAGTGGGGTGAAGGGTCCTGGGCCAGTCTTCTCCAATTCCAGCCTCATTATCCCTCCCTGATACCACCCCCAAGAGCCACATCCCAAACCCTCCCCTGGCGCTCTCTTGCATCCCGACTCCCATTCCCAACCAGATGCCTCTGTTGCACCTTCTTGTCCTGCAGGTCTGTGGAGAGTTCATAGCTGTCCGATAGGGCCTTGGAGCGCTTTATCTCCTCCTCCTCCTGCTTCCTCAGGGCGACACTGGCTGGCTGGAGGCGTGCCCGCTGAGCCCAGGGAAGGCCCACTCCAGCAGGGGGGCCCCCCATGTGGCTGCTGGAGGGGGGCAGCTGGCTCAGCCGGTAGGGGGGTTGGCTCCCAGGACTATCAACCGCTGTGCTCAGGTCACTGCCTGGGGCATCACCCTCCACACTGTGGGGATGAGATAAGATGAGCCAGGATGTGGGGACAGGACAGGGGCCTACTGGGCCATACTGAGAGTGGGTGAGCCAGATCCCTGCCCCCCATCCCATCCACCCCAGCTTCCTCACAGATATAGGGACCCAACACTTACAGGCCACGGTGAGTCCTAGCTCTTGGACGTCTCCCCACTCCCACCCAAGTCCCCTCCCTTCCAGCCCCCCTGCCTTTACGGCAAGATCCTCTTAGACTCCTTTCCCTCAAGGCTCTGCCTGGTCCCCAGTCCTCCTCACCCCTCACAGCCTTCTCCCCTAGACCACTCTCCTCCCAGTCTTGTCTCCTCATGCCCTTTCTTCTGCCCCCTCACAGCTCCACCCCTCCCCACAGACCTCTTCCCCTTACAGCTCCATCCCCTCCTGGCCTTGTCCCCAACGCAGTGCTCGCTGTGATTTCCCTCCCAGTCCGATTCCCAGCACCACCCCAGACTAGCTCCTTCAAAGCGCCACCCCCTCCCAGCCCTGTCCCAGCTGTGTGAGGCCCACCCCTGCACACAGCTCTCCCCTCATCCGCCCAGCCCTGTCCCCTGCAGCCTGGCCCCTGCCCCCTGGTGCCTGGACTCCGGGCCAGGCCAAGCCAGTTCCCAGGGTTCCCTGGTTGCGAGGGCAGGGCCAGCAGCAGGGCAGGGCGAGCAGCAACAGTGGGAGGCGCCTCCCATCCAGCATCCTCACAGGTAAAGAGCAGCCCTGCGGGGCAGCTTCCTTTTTCTCCTCATGGCCTCCTCTGCTCAGCTGGGGGAAGGGGGCAGGGGAGTCTCCACGCGTGGCAGGAGCTGGGCCCCGGGTCTTGCCTGCCCTGGTTTCCCAGAGCTGTTGTTCCACCAGAACTGCTCCCATGGTGCCATGGCAACCAGGCTGCCAGGGAACCCAGGTGGCGACAGAGCCCAGGCGCCTTGAGCCGAGCCTGCACGGTGAAGAGCCACAGAGGTGGGGAAGACAGGGAAGGAGTCGGGCGGGAAGGAACACGCAGGTGAGGCATGGAGGAGGCTGTGGGGGGAATGGGTGTGGCTGGGACCCAGAGAATGGTCTCATTATGGGGGGCACAAGGTTGGAGGCTCTTGGCTGGTAAACAGGTGAAGGGGTACTCCCCAGCCCCTATTCGGCAGAGGCAAAGGCAAAGGGCAGAAATGGGCTGGGGTAGGTACTGGGGGGGACCCTACCAGTGCAGGAGCTGGAACTGCAACAGGCCTGCCAGCCTTGCAGCAGAGCGCTTTGCACTGGGGGCTGGATGTGGTGTGAAGGCTGCGCCCACGAGGCCCGGTCCCGGGCTGCAGCGCTGTGGAGCTCGGCTCCGCCCTGGGGAGAGCTCCCACCCATCGCTCGCTCTCCACCCCAAATTCTCTCTCCTCCTGGGCCTGGGGCGGTGGCCCTGACATCACCCCCACTCCAGGGTTCAGCCCCAGCTCAGCCCACCCCCGGCATCCAAGATGTTCCTCTCCTCCCTGCCAGGACTGCAGGATCTTGCCCATTAATCTCTCAAACCTCCCCTCCCAGCACACGGCTCAAGCCCAGTTTTGATCAACTGTCTCCTGTATGCATGAACCATCATCTATAACTTCCACTGCTCAGAAGAGATAGCCCAAGTCCCTTATTCTGGCATTTGAGGCTTCTCCAAGATACAACAGCTAATATTTATAGACCATTTAGCACATTTAGGTACCATTCTTACCACTTCACACTGAATAACTTGCTTGCTCTTCAAGACAACCGTATGAGGTAGGTACTGTAATTTATCTTCATTTTACACATAAAGAAACTGAGGCCCAGAGAGGTTAAGTAACATATCTATGGTCACACAGCTACTAATGATAGAGCCAGGATTCAAATCCAGGCAGTCTGACTCCAGAGCCCACACTCTTAAACATTAAGCCATACTTCAGGGTTGGCTGCCA
|
AGCTTTATTTTATAGTAGATCAAGTTCCAAGTAGTGAGAACTTTTTTCTTATTTGTTCTATACACCCATACATATTTTTTCCCACAAGAAGGGAACGACATGGAACACCCATATTTATAACTTGCTTGTTTTAACAATGTAATTTCTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTCCGGAGGTGATGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGTCACATACCTGCAATCCCAGCTACTCGGGAGAGTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGTGTCGAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAGGTAATTTCTATCTTACCAGTTCTTTCTCATTATTCTCACAGTCCCAACTCAAATGGTAGCTATTTGCTGTTATTAAATGCCTGTCACGCAACTTCTTTCAGTTTGCAATCTAGGTAAAAAGTAGCAGGAGTAGCCAGAACACGGGGATGGGGAAGAAAGGTCCTTTTCAGGGATCCTGACCTGTTTGGAGAAGGAGTCCTCAAGTTCTGTGATGTCATTAGAAAACTCTCCAGATGTGGTGACGGAGCTTCCACCACCATCGATGCCCCCACCACAGGAGCCTCCATATGGGAGCCCCCGTTCAAGCCGGTGGCTCCGGGCACCAGCCATGGCACCCTCGTCCAGCGAGGCAGGCTTGCCCTCGAAGTACGCGGGGTTCTGTGCCTTCTCATACTCCTCAAAGGAGAACTGCATCCGCATGTTGGAAAGGATGATGCGGCGGGACATGCGGCTCTCTGAGGCTGAGCTGCGTAGCCGCTCAAAGTTCTTGTTCATGCGGTACTGGCGGAAGGCTGTCTGGATGGTCCTGGCAGCCCTGCGGCTCAGGAAGGAGCCCCCATACTTCCTCTCCAGCATTTCCACCTGGCAGAGAAGGGTCGAGGGGAACAAGGTCAGAAAGTCATGGCAGCCTCATCTCCCTAGGCACTCAACCACACCACCCCCACTGGAATCATGGCTGACTGCTTACAGCCACCGAGAGCGCCAGGCTAGGTGCTCAGTGTTGTCTCCTCACTTGAATTTCAGATAACACTAGTCAAATGGGATTGGATTATGTTTTGTTTTCTTATTTGCAAGAAGAACATATTGATTATTTGAAAACAGGAAACAAACAGAGAAGCCAAAAAAAAAGAAAGCAAGGTAGAAATAAATGGAGAGCAAGAAGGAAAGAAAGGAGGAAGAAAGAGAATGAGAAAGGAGAAGGAGAGAGGGAGAGAGAAAGGCAGAGAAGGAAGGAAGGAAGGTAGGTAGGTAGGTTGAATTACCTACATTCCAAACACCTAAGCATAACTAGAATATGTCTTTTGGTGTAGGGTATATGTTTTTGTATATGTCCTTCCAGTTTTTTCCTATATGTAGTATTTTGTTTTCCCTCCACCTTTCTTTTTAGCCAAACAATCTATTGTATGGCACTCTTCTGAAAAGGTCAACTGATGTGTGTTCTTCCTGTTAGACTGAGTTTTTTGGGGACTGGATCCAGGACTCATTCATCTTTACATCGCCAGGACCCGGGCAGGGAGCTCAGTAAATGTTTCTTGAGTGAATACAAGCCTCAGTGGATGGGTGGTGAATGAGTGCATCCCCAGTGGGGTGAAGGGTCCTGGGCCAGTCTTCTCCAATTCCAGCCTCATTATCCCTCCCTGATACCACCCCCAAGAGCCACATCCCAAACCCTCCCCTGGCGCTCTCTTGCATCCCGACTCCCATTCCCAACCAGATGCCTCTGTTGCACCTTCTTGTCCTGCAGGTCTGTGGAGAGTTCATAGCTGTCCGATAGGGCCTTGGAGCGCTTTATCTCCTCCTCCTCCTGCTTCCTCAGGGCGACACTGGCTGGCTGGAGGCGTGCCCGCTGAGCCCAGGGAAGGCCCACTCCAGCAGGGGGGCCCCCATGTGGCTGCTGGAGGGGGGCAGCTGGCTCAGCCGGTAGGGGGGTTGGCTCCCAGGACTATCAACCGCTGTGCTCAGGTCACTGCCTGGGGCATCACCCTCCACACTGTGGGGATGAGATAAGATGAGCCAGGATGTGGGGACAGGACAGGGGCCTACTGGGCCATACTGAGAGTGGGTGAGCCAGATCCCTGCCCCCCATCCCATCCACCCCAGCTTCCTCACAGATATAGGGACCCAACACTTACAGGCCACGGTGAGTCCTAGCTCTTGGACGTCTCCCCACTCCCACCCAAGTCCCCTCCCTTCCAGCCCCCCTGCCTTTACGGCAAGATCCTCTTAGACTCCTTTCCCTCAAGGCTCTGCCTGGTCCCCAGTCCTCCTCACCCCTCACAGCCTTCTCCCCTAGACCACTCTCCTCCCAGTCTTGTCTCCTCATGCCCTTTCTTCTGCCCCCTCACAGCTCCACCCCTCCCCACAGACCTCTTCCCCTTACAGCTCCATCCCCTCCTGGCCTTGTCCCCAACGCAGTGCTCGCTGTGATTTCCCTCCCAGTCCGATTCCCAGCACCACCCCAGACTAGCTCCTTCAAAGCGCCACCCCCTCCCAGCCCTGTCCCAGCTGTGTGAGGCCCACCCCTGCACACAGCTCTCCCCTCATCCGCCCAGCCCTGTCCCCTGCAGCCTGGCCCCTGCCCCCTGGTGCCTGGACTCCGGGCCAGGCCAAGCCAGTTCCCAGGGTTCCCTGGTTGCGAGGGCAGGGCCAGCAGCAGGGCAGGGCGAGCAGCAACAGTGGGAGGCGCCTCCCATCCAGCATCCTCACAGGTAAAGAGCAGCCCTGCGGGGCAGCTTCCTTTTTCTCCTCATGGCCTCCTCTGCTCAGCTGGGGGAAGGGGGCAGGGGAGTCTCCACGCGTGGCAGGAGCTGGGCCCCGGGTCTTGCCTGCCCTGGTTTCCCAGAGCTGTTGTTCCACCAGAACTGCTCCCATGGTGCCATGGCAACCAGGCTGCCAGGGAACCCAGGTGGCGACAGAGCCCAGGCGCCTTGAGCCGAGCCTGCACGGTGAAGAGCCACAGAGGTGGGGAAGACAGGGAAGGAGTCGGGCGGGAAGGAACACGCAGGTGAGGCATGGAGGAGGCTGTGGGGGGAATGGGTGTGGCTGGGACCCAGAGAATGGTCTCATTATGGGGGGCACAAGGTTGGAGGCTCTTGGCTGGTAAACAGGTGAAGGGGTACTCCCCAGCCCCTATTCGGCAGAGGCAAAGGCAAAGGGCAGAAATGGGCTGGGGTAGGTACTGGGGGGGACCCTACCAGTGCAGGAGCTGGAACTGCAACAGGCCTGCCAGCCTTGCAGCAGAGCGCTTTGCACTGGGGGCTGGATGTGGTGTGAAGGCTGCGCCCACGAGGCCCGGTCCCGGGCTGCAGCGCTGTGGAGCTCGGCTCCGCCCTGGGGAGAGCTCCCACCCATCGCTCGCTCTCCACCCCAAATTCTCTCTCCTCCTGGGCCTGGGGCGGTGGCCCTGACATCACCCCCACTCCAGGGTTCAGCCCCAGCTCAGCCCACCCCCGGCATCCAAGATGTTCCTCTCCTCCCTGCCAGGACTGCAGGATCTTGCCCATTAATCTCTCAAACCTCCCCTCCCAGCACACGGCTCAAGCCCAGTTTTGATCAACTGTCTCCTGTATGCATGAACCATCATCTATAACTTCCACTGCTCAGAAGAGATAGCCCAAGTCCCTTATTCTGGCATTTGAGGCTTCTCCAAGATACAACAGCTAATATTTATAGACCATTTAGCACATTTAGGTACCATTCTTACCACTTCACACTGAATAACTTGCTTGCTCTTCAAGACAACCGTATGAGGTAGGTACTGTAATTTATCTTCATTTTACACATAAAGAAACTGAGGCCCAGAGAGGTTAAGTAACATATCTATGGTCACACAGCTACTAATGATAGAGCCAGGATTCAAATCCAGGCAGTCTGACTCCAGAGCCCACACTCTTAAACATTAAGCCATACTTCAGGGTTGGCTGCCAN
|
pathogenic
| 334,606 |
Regarding the variant found on chromosome X at position 53255970 in gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Intellectual_disability,_X-linked_1']
|
CAAGTTCCAAGTAGTGAGAACTTTTTTCTTATTTGTTCTATACACCCATACATATTTTTTCCCACAAGAAGGGAACGACATGGAACACCCATATTTATAACTTGCTTGTTTTAACAATGTAATTTCTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTCCGGAGGTGATGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGTCACATACCTGCAATCCCAGCTACTCGGGAGAGTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGTGTCGAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAGGTAATTTCTATCTTACCAGTTCTTTCTCATTATTCTCACAGTCCCAACTCAAATGGTAGCTATTTGCTGTTATTAAATGCCTGTCACGCAACTTCTTTCAGTTTGCAATCTAGGTAAAAAGTAGCAGGAGTAGCCAGAACACGGGGATGGGGAAGAAAGGTCCTTTTCAGGGATCCTGACCTGTTTGGAGAAGGAGTCCTCAAGTTCTGTGATGTCATTAGAAAACTCTCCAGATGTGGTGACGGAGCTTCCACCACCATCGATGCCCCCACCACAGGAGCCTCCATATGGGAGCCCCCGTTCAAGCCGGTGGCTCCGGGCACCAGCCATGGCACCCTCGTCCAGCGAGGCAGGCTTGCCCTCGAAGTACGCGGGGTTCTGTGCCTTCTCATACTCCTCAAAGGAGAACTGCATCCGCATGTTGGAAAGGATGATGCGGCGGGACATGCGGCTCTCTGAGGCTGAGCTGCGTAGCCGCTCAAAGTTCTTGTTCATGCGGTACTGGCGGAAGGCTGTCTGGATGGTCCTGGCAGCCCTGCGGCTCAGGAAGGAGCCCCCATACTTCCTCTCCAGCATTTCCACCTGGCAGAGAAGGGTCGAGGGGAACAAGGTCAGAAAGTCATGGCAGCCTCATCTCCCTAGGCACTCAACCACACCACCCCCACTGGAATCATGGCTGACTGCTTACAGCCACCGAGAGCGCCAGGCTAGGTGCTCAGTGTTGTCTCCTCACTTGAATTTCAGATAACACTAGTCAAATGGGATTGGATTATGTTTTGTTTTCTTATTTGCAAGAAGAACATATTGATTATTTGAAAACAGGAAACAAACAGAGAAGCCAAAAAAAAAGAAAGCAAGGTAGAAATAAATGGAGAGCAAGAAGGAAAGAAAGGAGGAAGAAAGAGAATGAGAAAGGAGAAGGAGAGAGGGAGAGAGAAAGGCAGAGAAGGAAGGAAGGAAGGTAGGTAGGTAGGTTGAATTACCTACATTCCAAACACCTAAGCATAACTAGAATATGTCTTTTGGTGTAGGGTATATGTTTTTGTATATGTCCTTCCAGTTTTTTCCTATATGTAGTATTTTGTTTTCCCTCCACCTTTCTTTTTAGCCAAACAATCTATTGTATGGCACTCTTCTGAAAAGGTCAACTGATGTGTGTTCTTCCTGTTAGACTGAGTTTTTTGGGGACTGGATCCAGGACTCATTCATCTTTACATCGCCAGGACCCGGGCAGGGAGCTCAGTAAATGTTTCTTGAGTGAATACAAGCCTCAGTGGATGGGTGGTGAATGAGTGCATCCCCAGTGGGGTGAAGGGTCCTGGGCCAGTCTTCTCCAATTCCAGCCTCATTATCCCTCCCTGATACCACCCCCAAGAGCCACATCCCAAACCCTCCCCTGGCGCTCTCTTGCATCCCGACTCCCATTCCCAACCAGATGCCTCTGTTGCACCTTCTTGTCCTGCAGGTCTGTGGAGAGTTCATAGCTGTCCGATAGGGCCTTGGAGCGCTTTATCTCCTCCTCCTCCTGCTTCCTCAGGGCGACACTGGCTGGCTGGAGGCGTGCCCGCTGAGCCCAGGGAAGGCCCACTCCAGCAGGGGGGCCCCCCATGTGGCTGCTGGAGGGGGGCAGCTGGCTCAGCCGGTAGGGGGGTTGGCTCCCAGGACTATCAACCGCTGTGCTCAGGTCACTGCCTGGGGCATCACCCTCCACACTGTGGGGATGAGATAAGATGAGCCAGGATGTGGGGACAGGACAGGGGCCTACTGGGCCATACTGAGAGTGGGTGAGCCAGATCCCTGCCCCCCATCCCATCCACCCCAGCTTCCTCACAGATATAGGGACCCAACACTTACAGGCCACGGTGAGTCCTAGCTCTTGGACGTCTCCCCACTCCCACCCAAGTCCCCTCCCTTCCAGCCCCCCTGCCTTTACGGCAAGATCCTCTTAGACTCCTTTCCCTCAAGGCTCTGCCTGGTCCCCAGTCCTCCTCACCCCTCACAGCCTTCTCCCCTAGACCACTCTCCTCCCAGTCTTGTCTCCTCATGCCCTTTCTTCTGCCCCCTCACAGCTCCACCCCTCCCCACAGACCTCTTCCCCTTACAGCTCCATCCCCTCCTGGCCTTGTCCCCAACGCAGTGCTCGCTGTGATTTCCCTCCCAGTCCGATTCCCAGCACCACCCCAGACTAGCTCCTTCAAAGCGCCACCCCCTCCCAGCCCTGTCCCAGCTGTGTGAGGCCCACCCCTGCACACAGCTCTCCCCTCATCCGCCCAGCCCTGTCCCCTGCAGCCTGGCCCCTGCCCCCTGGTGCCTGGACTCCGGGCCAGGCCAAGCCAGTTCCCAGGGTTCCCTGGTTGCGAGGGCAGGGCCAGCAGCAGGGCAGGGCGAGCAGCAACAGTGGGAGGCGCCTCCCATCCAGCATCCTCACAGGTAAAGAGCAGCCCTGCGGGGCAGCTTCCTTTTTCTCCTCATGGCCTCCTCTGCTCAGCTGGGGGAAGGGGGCAGGGGAGTCTCCACGCGTGGCAGGAGCTGGGCCCCGGGTCTTGCCTGCCCTGGTTTCCCAGAGCTGTTGTTCCACCAGAACTGCTCCCATGGTGCCATGGCAACCAGGCTGCCAGGGAACCCAGGTGGCGACAGAGCCCAGGCGCCTTGAGCCGAGCCTGCACGGTGAAGAGCCACAGAGGTGGGGAAGACAGGGAAGGAGTCGGGCGGGAAGGAACACGCAGGTGAGGCATGGAGGAGGCTGTGGGGGGAATGGGTGTGGCTGGGACCCAGAGAATGGTCTCATTATGGGGGGCACAAGGTTGGAGGCTCTTGGCTGGTAAACAGGTGAAGGGGTACTCCCCAGCCCCTATTCGGCAGAGGCAAAGGCAAAGGGCAGAAATGGGCTGGGGTAGGTACTGGGGGGGACCCTACCAGTGCAGGAGCTGGAACTGCAACAGGCCTGCCAGCCTTGCAGCAGAGCGCTTTGCACTGGGGGCTGGATGTGGTGTGAAGGCTGCGCCCACGAGGCCCGGTCCCGGGCTGCAGCGCTGTGGAGCTCGGCTCCGCCCTGGGGAGAGCTCCCACCCATCGCTCGCTCTCCACCCCAAATTCTCTCTCCTCCTGGGCCTGGGGCGGTGGCCCTGACATCACCCCCACTCCAGGGTTCAGCCCCAGCTCAGCCCACCCCCGGCATCCAAGATGTTCCTCTCCTCCCTGCCAGGACTGCAGGATCTTGCCCATTAATCTCTCAAACCTCCCCTCCCAGCACACGGCTCAAGCCCAGTTTTGATCAACTGTCTCCTGTATGCATGAACCATCATCTATAACTTCCACTGCTCAGAAGAGATAGCCCAAGTCCCTTATTCTGGCATTTGAGGCTTCTCCAAGATACAACAGCTAATATTTATAGACCATTTAGCACATTTAGGTACCATTCTTACCACTTCACACTGAATAACTTGCTTGCTCTTCAAGACAACCGTATGAGGTAGGTACTGTAATTTATCTTCATTTTACACATAAAGAAACTGAGGCCCAGAGAGGTTAAGTAACATATCTATGGTCACACAGCTACTAATGATAGAGCCAGGATTCAAATCCAGGCAGTCTGACTCCAGAGCCCACACTCTTAAACATTAAGCCATACTTCAGGGTTGGCTGCCAGCCCCCTATTCCATCCACCC
|
CAAGTTCCAAGTAGTGAGAACTTTTTTCTTATTTGTTCTATACACCCATACATATTTTTTCCCACAAGAAGGGAACGACATGGAACACCCATATTTATAACTTGCTTGTTTTAACAATGTAATTTCTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTCCGGAGGTGATGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGTCACATACCTGCAATCCCAGCTACTCGGGAGAGTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGTGTCGAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAGGTAATTTCTATCTTACCAGTTCTTTCTCATTATTCTCACAGTCCCAACTCAAATGGTAGCTATTTGCTGTTATTAAATGCCTGTCACGCAACTTCTTTCAGTTTGCAATCTAGGTAAAAAGTAGCAGGAGTAGCCAGAACACGGGGATGGGGAAGAAAGGTCCTTTTCAGGGATCCTGACCTGTTTGGAGAAGGAGTCCTCAAGTTCTGTGATGTCATTAGAAAACTCTCCAGATGTGGTGACGGAGCTTCCACCACCATCGATGCCCCCACCACAGGAGCCTCCATATGGGAGCCCCCGTTCAAGCCGGTGGCTCCGGGCACCAGCCATGGCACCCTCGTCCAGCGAGGCAGGCTTGCCCTCGAAGTACGCGGGGTTCTGTGCCTTCTCATACTCCTCAAAGGAGAACTGCATCCGCATGTTGGAAAGGATGATGCGGCGGGACATGCGGCTCTCTGAGGCTGAGCTGCGTAGCCGCTCAAAGTTCTTGTTCATGCGGTACTGGCGGAAGGCTGTCTGGATGGTCCTGGCAGCCCTGCGGCTCAGGAAGGAGCCCCCATACTTCCTCTCCAGCATTTCCACCTGGCAGAGAAGGGTCGAGGGGAACAAGGTCAGAAAGTCATGGCAGCCTCATCTCCCTAGGCACTCAACCACACCACCCCCACTGGAATCATGGCTGACTGCTTACAGCCACCGAGAGCGCCAGGCTAGGTGCTCAGTGTTGTCTCCTCACTTGAATTTCAGATAACACTAGTCAAATGGGATTGGATTATGTTTTGTTTTCTTATTTGCAAGAAGAACATATTGATTATTTGAAAACAGGAAACAAACAGAGAAGCCAAAAAAAAAGAAAGCAAGGTAGAAATAAATGGAGAGCAAGAAGGAAAGAAAGGAGGAAGAAAGAGAATGAGAAAGGAGAAGGAGAGAGGGAGAGAGAAAGGCAGAGAAGGAAGGAAGGAAGGTAGGTAGGTAGGTTGAATTACCTACATTCCAAACACCTAAGCATAACTAGAATATGTCTTTTGGTGTAGGGTATATGTTTTTGTATATGTCCTTCCAGTTTTTTCCTATATGTAGTATTTTGTTTTCCCTCCACCTTTCTTTTTAGCCAAACAATCTATTGTATGGCACTCTTCTGAAAAGGTCAACTGATGTGTGTTCTTCCTGTTAGACTGAGTTTTTTGGGGACTGGATCCAGGACTCATTCATCTTTACATCGCCAGGACCCGGGCAGGGAGCTCAGTAAATGTTTCTTGAGTGAATACAAGCCTCAGTGGATGGGTGGTGAATGAGTGCATCCCCAGTGGGGTGAAGGGTCCTGGGCCAGTCTTCTCCAATTCCAGCCTCATTATCCCTCCCTGATACCACCCCCAAGAGCCACATCCCAAACCCTCCCCTGGCGCTCTCTTGCATCCCGACTCCCATTCCCAACCAGATGCCTCTGTTGCACCTTCTTGTCCTGCAGGTCTGTGGAGAGTTCATAGCTGTCCGATAGGGCCTTGGAGCGCTTTATCTCCTCCTCCTCCTGCTTCCTCAGGGCGACACTGGCTGGCTGGAGGCGTGCCCGCTGAGCCCAGGGAAGGCCCACTCCAGCAGGGGGGCCCCCCATGTGGCTGCTGGAGGGGGCAGCTGGCTCAGCCGGTAGGGGGGTTGGCTCCCAGGACTATCAACCGCTGTGCTCAGGTCACTGCCTGGGGCATCACCCTCCACACTGTGGGGATGAGATAAGATGAGCCAGGATGTGGGGACAGGACAGGGGCCTACTGGGCCATACTGAGAGTGGGTGAGCCAGATCCCTGCCCCCCATCCCATCCACCCCAGCTTCCTCACAGATATAGGGACCCAACACTTACAGGCCACGGTGAGTCCTAGCTCTTGGACGTCTCCCCACTCCCACCCAAGTCCCCTCCCTTCCAGCCCCCCTGCCTTTACGGCAAGATCCTCTTAGACTCCTTTCCCTCAAGGCTCTGCCTGGTCCCCAGTCCTCCTCACCCCTCACAGCCTTCTCCCCTAGACCACTCTCCTCCCAGTCTTGTCTCCTCATGCCCTTTCTTCTGCCCCCTCACAGCTCCACCCCTCCCCACAGACCTCTTCCCCTTACAGCTCCATCCCCTCCTGGCCTTGTCCCCAACGCAGTGCTCGCTGTGATTTCCCTCCCAGTCCGATTCCCAGCACCACCCCAGACTAGCTCCTTCAAAGCGCCACCCCCTCCCAGCCCTGTCCCAGCTGTGTGAGGCCCACCCCTGCACACAGCTCTCCCCTCATCCGCCCAGCCCTGTCCCCTGCAGCCTGGCCCCTGCCCCCTGGTGCCTGGACTCCGGGCCAGGCCAAGCCAGTTCCCAGGGTTCCCTGGTTGCGAGGGCAGGGCCAGCAGCAGGGCAGGGCGAGCAGCAACAGTGGGAGGCGCCTCCCATCCAGCATCCTCACAGGTAAAGAGCAGCCCTGCGGGGCAGCTTCCTTTTTCTCCTCATGGCCTCCTCTGCTCAGCTGGGGGAAGGGGGCAGGGGAGTCTCCACGCGTGGCAGGAGCTGGGCCCCGGGTCTTGCCTGCCCTGGTTTCCCAGAGCTGTTGTTCCACCAGAACTGCTCCCATGGTGCCATGGCAACCAGGCTGCCAGGGAACCCAGGTGGCGACAGAGCCCAGGCGCCTTGAGCCGAGCCTGCACGGTGAAGAGCCACAGAGGTGGGGAAGACAGGGAAGGAGTCGGGCGGGAAGGAACACGCAGGTGAGGCATGGAGGAGGCTGTGGGGGGAATGGGTGTGGCTGGGACCCAGAGAATGGTCTCATTATGGGGGGCACAAGGTTGGAGGCTCTTGGCTGGTAAACAGGTGAAGGGGTACTCCCCAGCCCCTATTCGGCAGAGGCAAAGGCAAAGGGCAGAAATGGGCTGGGGTAGGTACTGGGGGGGACCCTACCAGTGCAGGAGCTGGAACTGCAACAGGCCTGCCAGCCTTGCAGCAGAGCGCTTTGCACTGGGGGCTGGATGTGGTGTGAAGGCTGCGCCCACGAGGCCCGGTCCCGGGCTGCAGCGCTGTGGAGCTCGGCTCCGCCCTGGGGAGAGCTCCCACCCATCGCTCGCTCTCCACCCCAAATTCTCTCTCCTCCTGGGCCTGGGGCGGTGGCCCTGACATCACCCCCACTCCAGGGTTCAGCCCCAGCTCAGCCCACCCCCGGCATCCAAGATGTTCCTCTCCTCCCTGCCAGGACTGCAGGATCTTGCCCATTAATCTCTCAAACCTCCCCTCCCAGCACACGGCTCAAGCCCAGTTTTGATCAACTGTCTCCTGTATGCATGAACCATCATCTATAACTTCCACTGCTCAGAAGAGATAGCCCAAGTCCCTTATTCTGGCATTTGAGGCTTCTCCAAGATACAACAGCTAATATTTATAGACCATTTAGCACATTTAGGTACCATTCTTACCACTTCACACTGAATAACTTGCTTGCTCTTCAAGACAACCGTATGAGGTAGGTACTGTAATTTATCTTCATTTTACACATAAAGAAACTGAGGCCCAGAGAGGTTAAGTAACATATCTATGGTCACACAGCTACTAATGATAGAGCCAGGATTCAAATCCAGGCAGTCTGACTCCAGAGCCCACACTCTTAAACATTAAGCCATACTTCAGGGTTGGCTGCCAGCCCCCTATTCCATCCACCCN
|
pathogenic
| 334,608 |
Evaluate this variant at chromosome X, position 53255994, gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability,_X-linked_1', 'Severe_intellectual_deficiency']
|
TTTCTTATTTGTTCTATACACCCATACATATTTTTTCCCACAAGAAGGGAACGACATGGAACACCCATATTTATAACTTGCTTGTTTTAACAATGTAATTTCTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTCCGGAGGTGATGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGTCACATACCTGCAATCCCAGCTACTCGGGAGAGTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGTGTCGAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAGGTAATTTCTATCTTACCAGTTCTTTCTCATTATTCTCACAGTCCCAACTCAAATGGTAGCTATTTGCTGTTATTAAATGCCTGTCACGCAACTTCTTTCAGTTTGCAATCTAGGTAAAAAGTAGCAGGAGTAGCCAGAACACGGGGATGGGGAAGAAAGGTCCTTTTCAGGGATCCTGACCTGTTTGGAGAAGGAGTCCTCAAGTTCTGTGATGTCATTAGAAAACTCTCCAGATGTGGTGACGGAGCTTCCACCACCATCGATGCCCCCACCACAGGAGCCTCCATATGGGAGCCCCCGTTCAAGCCGGTGGCTCCGGGCACCAGCCATGGCACCCTCGTCCAGCGAGGCAGGCTTGCCCTCGAAGTACGCGGGGTTCTGTGCCTTCTCATACTCCTCAAAGGAGAACTGCATCCGCATGTTGGAAAGGATGATGCGGCGGGACATGCGGCTCTCTGAGGCTGAGCTGCGTAGCCGCTCAAAGTTCTTGTTCATGCGGTACTGGCGGAAGGCTGTCTGGATGGTCCTGGCAGCCCTGCGGCTCAGGAAGGAGCCCCCATACTTCCTCTCCAGCATTTCCACCTGGCAGAGAAGGGTCGAGGGGAACAAGGTCAGAAAGTCATGGCAGCCTCATCTCCCTAGGCACTCAACCACACCACCCCCACTGGAATCATGGCTGACTGCTTACAGCCACCGAGAGCGCCAGGCTAGGTGCTCAGTGTTGTCTCCTCACTTGAATTTCAGATAACACTAGTCAAATGGGATTGGATTATGTTTTGTTTTCTTATTTGCAAGAAGAACATATTGATTATTTGAAAACAGGAAACAAACAGAGAAGCCAAAAAAAAAGAAAGCAAGGTAGAAATAAATGGAGAGCAAGAAGGAAAGAAAGGAGGAAGAAAGAGAATGAGAAAGGAGAAGGAGAGAGGGAGAGAGAAAGGCAGAGAAGGAAGGAAGGAAGGTAGGTAGGTAGGTTGAATTACCTACATTCCAAACACCTAAGCATAACTAGAATATGTCTTTTGGTGTAGGGTATATGTTTTTGTATATGTCCTTCCAGTTTTTTCCTATATGTAGTATTTTGTTTTCCCTCCACCTTTCTTTTTAGCCAAACAATCTATTGTATGGCACTCTTCTGAAAAGGTCAACTGATGTGTGTTCTTCCTGTTAGACTGAGTTTTTTGGGGACTGGATCCAGGACTCATTCATCTTTACATCGCCAGGACCCGGGCAGGGAGCTCAGTAAATGTTTCTTGAGTGAATACAAGCCTCAGTGGATGGGTGGTGAATGAGTGCATCCCCAGTGGGGTGAAGGGTCCTGGGCCAGTCTTCTCCAATTCCAGCCTCATTATCCCTCCCTGATACCACCCCCAAGAGCCACATCCCAAACCCTCCCCTGGCGCTCTCTTGCATCCCGACTCCCATTCCCAACCAGATGCCTCTGTTGCACCTTCTTGTCCTGCAGGTCTGTGGAGAGTTCATAGCTGTCCGATAGGGCCTTGGAGCGCTTTATCTCCTCCTCCTCCTGCTTCCTCAGGGCGACACTGGCTGGCTGGAGGCGTGCCCGCTGAGCCCAGGGAAGGCCCACTCCAGCAGGGGGGCCCCCCATGTGGCTGCTGGAGGGGGGCAGCTGGCTCAGCCGGTAGGGGGGTTGGCTCCCAGGACTATCAACCGCTGTGCTCAGGTCACTGCCTGGGGCATCACCCTCCACACTGTGGGGATGAGATAAGATGAGCCAGGATGTGGGGACAGGACAGGGGCCTACTGGGCCATACTGAGAGTGGGTGAGCCAGATCCCTGCCCCCCATCCCATCCACCCCAGCTTCCTCACAGATATAGGGACCCAACACTTACAGGCCACGGTGAGTCCTAGCTCTTGGACGTCTCCCCACTCCCACCCAAGTCCCCTCCCTTCCAGCCCCCCTGCCTTTACGGCAAGATCCTCTTAGACTCCTTTCCCTCAAGGCTCTGCCTGGTCCCCAGTCCTCCTCACCCCTCACAGCCTTCTCCCCTAGACCACTCTCCTCCCAGTCTTGTCTCCTCATGCCCTTTCTTCTGCCCCCTCACAGCTCCACCCCTCCCCACAGACCTCTTCCCCTTACAGCTCCATCCCCTCCTGGCCTTGTCCCCAACGCAGTGCTCGCTGTGATTTCCCTCCCAGTCCGATTCCCAGCACCACCCCAGACTAGCTCCTTCAAAGCGCCACCCCCTCCCAGCCCTGTCCCAGCTGTGTGAGGCCCACCCCTGCACACAGCTCTCCCCTCATCCGCCCAGCCCTGTCCCCTGCAGCCTGGCCCCTGCCCCCTGGTGCCTGGACTCCGGGCCAGGCCAAGCCAGTTCCCAGGGTTCCCTGGTTGCGAGGGCAGGGCCAGCAGCAGGGCAGGGCGAGCAGCAACAGTGGGAGGCGCCTCCCATCCAGCATCCTCACAGGTAAAGAGCAGCCCTGCGGGGCAGCTTCCTTTTTCTCCTCATGGCCTCCTCTGCTCAGCTGGGGGAAGGGGGCAGGGGAGTCTCCACGCGTGGCAGGAGCTGGGCCCCGGGTCTTGCCTGCCCTGGTTTCCCAGAGCTGTTGTTCCACCAGAACTGCTCCCATGGTGCCATGGCAACCAGGCTGCCAGGGAACCCAGGTGGCGACAGAGCCCAGGCGCCTTGAGCCGAGCCTGCACGGTGAAGAGCCACAGAGGTGGGGAAGACAGGGAAGGAGTCGGGCGGGAAGGAACACGCAGGTGAGGCATGGAGGAGGCTGTGGGGGGAATGGGTGTGGCTGGGACCCAGAGAATGGTCTCATTATGGGGGGCACAAGGTTGGAGGCTCTTGGCTGGTAAACAGGTGAAGGGGTACTCCCCAGCCCCTATTCGGCAGAGGCAAAGGCAAAGGGCAGAAATGGGCTGGGGTAGGTACTGGGGGGGACCCTACCAGTGCAGGAGCTGGAACTGCAACAGGCCTGCCAGCCTTGCAGCAGAGCGCTTTGCACTGGGGGCTGGATGTGGTGTGAAGGCTGCGCCCACGAGGCCCGGTCCCGGGCTGCAGCGCTGTGGAGCTCGGCTCCGCCCTGGGGAGAGCTCCCACCCATCGCTCGCTCTCCACCCCAAATTCTCTCTCCTCCTGGGCCTGGGGCGGTGGCCCTGACATCACCCCCACTCCAGGGTTCAGCCCCAGCTCAGCCCACCCCCGGCATCCAAGATGTTCCTCTCCTCCCTGCCAGGACTGCAGGATCTTGCCCATTAATCTCTCAAACCTCCCCTCCCAGCACACGGCTCAAGCCCAGTTTTGATCAACTGTCTCCTGTATGCATGAACCATCATCTATAACTTCCACTGCTCAGAAGAGATAGCCCAAGTCCCTTATTCTGGCATTTGAGGCTTCTCCAAGATACAACAGCTAATATTTATAGACCATTTAGCACATTTAGGTACCATTCTTACCACTTCACACTGAATAACTTGCTTGCTCTTCAAGACAACCGTATGAGGTAGGTACTGTAATTTATCTTCATTTTACACATAAAGAAACTGAGGCCCAGAGAGGTTAAGTAACATATCTATGGTCACACAGCTACTAATGATAGAGCCAGGATTCAAATCCAGGCAGTCTGACTCCAGAGCCCACACTCTTAAACATTAAGCCATACTTCAGGGTTGGCTGCCAGCCCCCTATTCCATCCACCCATCATTCCAGCCTGGCCCACATCC
|
TTTCTTATTTGTTCTATACACCCATACATATTTTTTCCCACAAGAAGGGAACGACATGGAACACCCATATTTATAACTTGCTTGTTTTAACAATGTAATTTCTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTCCGGAGGTGATGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGTCACATACCTGCAATCCCAGCTACTCGGGAGAGTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGTGTCGAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAGGTAATTTCTATCTTACCAGTTCTTTCTCATTATTCTCACAGTCCCAACTCAAATGGTAGCTATTTGCTGTTATTAAATGCCTGTCACGCAACTTCTTTCAGTTTGCAATCTAGGTAAAAAGTAGCAGGAGTAGCCAGAACACGGGGATGGGGAAGAAAGGTCCTTTTCAGGGATCCTGACCTGTTTGGAGAAGGAGTCCTCAAGTTCTGTGATGTCATTAGAAAACTCTCCAGATGTGGTGACGGAGCTTCCACCACCATCGATGCCCCCACCACAGGAGCCTCCATATGGGAGCCCCCGTTCAAGCCGGTGGCTCCGGGCACCAGCCATGGCACCCTCGTCCAGCGAGGCAGGCTTGCCCTCGAAGTACGCGGGGTTCTGTGCCTTCTCATACTCCTCAAAGGAGAACTGCATCCGCATGTTGGAAAGGATGATGCGGCGGGACATGCGGCTCTCTGAGGCTGAGCTGCGTAGCCGCTCAAAGTTCTTGTTCATGCGGTACTGGCGGAAGGCTGTCTGGATGGTCCTGGCAGCCCTGCGGCTCAGGAAGGAGCCCCCATACTTCCTCTCCAGCATTTCCACCTGGCAGAGAAGGGTCGAGGGGAACAAGGTCAGAAAGTCATGGCAGCCTCATCTCCCTAGGCACTCAACCACACCACCCCCACTGGAATCATGGCTGACTGCTTACAGCCACCGAGAGCGCCAGGCTAGGTGCTCAGTGTTGTCTCCTCACTTGAATTTCAGATAACACTAGTCAAATGGGATTGGATTATGTTTTGTTTTCTTATTTGCAAGAAGAACATATTGATTATTTGAAAACAGGAAACAAACAGAGAAGCCAAAAAAAAAGAAAGCAAGGTAGAAATAAATGGAGAGCAAGAAGGAAAGAAAGGAGGAAGAAAGAGAATGAGAAAGGAGAAGGAGAGAGGGAGAGAGAAAGGCAGAGAAGGAAGGAAGGAAGGTAGGTAGGTAGGTTGAATTACCTACATTCCAAACACCTAAGCATAACTAGAATATGTCTTTTGGTGTAGGGTATATGTTTTTGTATATGTCCTTCCAGTTTTTTCCTATATGTAGTATTTTGTTTTCCCTCCACCTTTCTTTTTAGCCAAACAATCTATTGTATGGCACTCTTCTGAAAAGGTCAACTGATGTGTGTTCTTCCTGTTAGACTGAGTTTTTTGGGGACTGGATCCAGGACTCATTCATCTTTACATCGCCAGGACCCGGGCAGGGAGCTCAGTAAATGTTTCTTGAGTGAATACAAGCCTCAGTGGATGGGTGGTGAATGAGTGCATCCCCAGTGGGGTGAAGGGTCCTGGGCCAGTCTTCTCCAATTCCAGCCTCATTATCCCTCCCTGATACCACCCCCAAGAGCCACATCCCAAACCCTCCCCTGGCGCTCTCTTGCATCCCGACTCCCATTCCCAACCAGATGCCTCTGTTGCACCTTCTTGTCCTGCAGGTCTGTGGAGAGTTCATAGCTGTCCGATAGGGCCTTGGAGCGCTTTATCTCCTCCTCCTCCTGCTTCCTCAGGGCGACACTGGCTGGCTGGAGGCGTGCCCGCTGAGCCCAGGGAAGGCCCACTCCAGCAGGGGGGCCCCCCATGTGGCTGCTGGAGGGGGGCAGCTGGCTCAGCCGGTAGGGGGTTGGCTCCCAGGACTATCAACCGCTGTGCTCAGGTCACTGCCTGGGGCATCACCCTCCACACTGTGGGGATGAGATAAGATGAGCCAGGATGTGGGGACAGGACAGGGGCCTACTGGGCCATACTGAGAGTGGGTGAGCCAGATCCCTGCCCCCCATCCCATCCACCCCAGCTTCCTCACAGATATAGGGACCCAACACTTACAGGCCACGGTGAGTCCTAGCTCTTGGACGTCTCCCCACTCCCACCCAAGTCCCCTCCCTTCCAGCCCCCCTGCCTTTACGGCAAGATCCTCTTAGACTCCTTTCCCTCAAGGCTCTGCCTGGTCCCCAGTCCTCCTCACCCCTCACAGCCTTCTCCCCTAGACCACTCTCCTCCCAGTCTTGTCTCCTCATGCCCTTTCTTCTGCCCCCTCACAGCTCCACCCCTCCCCACAGACCTCTTCCCCTTACAGCTCCATCCCCTCCTGGCCTTGTCCCCAACGCAGTGCTCGCTGTGATTTCCCTCCCAGTCCGATTCCCAGCACCACCCCAGACTAGCTCCTTCAAAGCGCCACCCCCTCCCAGCCCTGTCCCAGCTGTGTGAGGCCCACCCCTGCACACAGCTCTCCCCTCATCCGCCCAGCCCTGTCCCCTGCAGCCTGGCCCCTGCCCCCTGGTGCCTGGACTCCGGGCCAGGCCAAGCCAGTTCCCAGGGTTCCCTGGTTGCGAGGGCAGGGCCAGCAGCAGGGCAGGGCGAGCAGCAACAGTGGGAGGCGCCTCCCATCCAGCATCCTCACAGGTAAAGAGCAGCCCTGCGGGGCAGCTTCCTTTTTCTCCTCATGGCCTCCTCTGCTCAGCTGGGGGAAGGGGGCAGGGGAGTCTCCACGCGTGGCAGGAGCTGGGCCCCGGGTCTTGCCTGCCCTGGTTTCCCAGAGCTGTTGTTCCACCAGAACTGCTCCCATGGTGCCATGGCAACCAGGCTGCCAGGGAACCCAGGTGGCGACAGAGCCCAGGCGCCTTGAGCCGAGCCTGCACGGTGAAGAGCCACAGAGGTGGGGAAGACAGGGAAGGAGTCGGGCGGGAAGGAACACGCAGGTGAGGCATGGAGGAGGCTGTGGGGGGAATGGGTGTGGCTGGGACCCAGAGAATGGTCTCATTATGGGGGGCACAAGGTTGGAGGCTCTTGGCTGGTAAACAGGTGAAGGGGTACTCCCCAGCCCCTATTCGGCAGAGGCAAAGGCAAAGGGCAGAAATGGGCTGGGGTAGGTACTGGGGGGGACCCTACCAGTGCAGGAGCTGGAACTGCAACAGGCCTGCCAGCCTTGCAGCAGAGCGCTTTGCACTGGGGGCTGGATGTGGTGTGAAGGCTGCGCCCACGAGGCCCGGTCCCGGGCTGCAGCGCTGTGGAGCTCGGCTCCGCCCTGGGGAGAGCTCCCACCCATCGCTCGCTCTCCACCCCAAATTCTCTCTCCTCCTGGGCCTGGGGCGGTGGCCCTGACATCACCCCCACTCCAGGGTTCAGCCCCAGCTCAGCCCACCCCCGGCATCCAAGATGTTCCTCTCCTCCCTGCCAGGACTGCAGGATCTTGCCCATTAATCTCTCAAACCTCCCCTCCCAGCACACGGCTCAAGCCCAGTTTTGATCAACTGTCTCCTGTATGCATGAACCATCATCTATAACTTCCACTGCTCAGAAGAGATAGCCCAAGTCCCTTATTCTGGCATTTGAGGCTTCTCCAAGATACAACAGCTAATATTTATAGACCATTTAGCACATTTAGGTACCATTCTTACCACTTCACACTGAATAACTTGCTTGCTCTTCAAGACAACCGTATGAGGTAGGTACTGTAATTTATCTTCATTTTACACATAAAGAAACTGAGGCCCAGAGAGGTTAAGTAACATATCTATGGTCACACAGCTACTAATGATAGAGCCAGGATTCAAATCCAGGCAGTCTGACTCCAGAGCCCACACTCTTAAACATTAAGCCATACTTCAGGGTTGGCTGCCAGCCCCCTATTCCATCCACCCATCATTCCAGCCTGGCCCACATCCN
|
pathogenic
| 334,609 |
Clinical classification of chromosome X, position 53394857, gene SMC1A (structural maintenance of chromosomes 1A): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Congenital_muscular_hypertrophy-cerebral_syndrome', 'Developmental_and_epileptic_encephalopathy,_85,_with_or_without_midline_brain_defects']
|
GAGATTACAGGCATGAGCCACTGTGCCCGGCCCTAAATATCTATTGAATTCTGGTTTTTGTTTCCACTGTCTCTAATGCAGGACACTTTCGTCTCACATAGCCAACTACAGGAGCCTCCTAAATAGTTTATGATGTGTTTCAATCATCATATTCAGGAGGATTGGATATAGAAGCTTGATCAGATCCACGTTTGTTTTTTGGCAAGAATACTTCATAGCTAATGTTGAACACTGGTCAATGTTAACATTACAAAGAAAGTGAGAACTGACATCAGGTGTCTACTGATGTGATGTAGAAGGAAGTTCACAAGTACACAACATCACCTATGATATATTCTTGCCAAAAAAAGAACTTGAATCCAATCAAACCCTAGATTTACCTACCAGTTTATAGGAAATACAAGGAATAGAAAAAACATGTTCAGTAACATCAAGGGGACATAATCAGCCAAATCTAGAATGCAGACAATTCTATAGTACCAACGACCCAGTTCCTTCCATAGATAAATACGAAGGAAAAAAATAAAATAAAAACGAAGAAGAAAATGTTATAGACTAGCAGAGACCAATTTTAACATATGGACCTTACTGGAATATTGATCTAAACACATAAACTGCAAAAAAAATAAAAATAAAAAAATATTATGGGACTTTCATGGAAATCTAAACATTTACTGATTAGATGATATTGTGGAGTTATTGTTAAATATTTTCAGATATAATATTATGGTTGTTTTTCTTAAAAGTTCTCATATTCTAGAGATACATGCTGAGGTAATTATGGATGGAGTAATGTCTAGTTTTCTTTAAAATACTCCAATGGGGGGTATAAAAAATAAGATTGCTTAACTGTTGAAGCTGAGTGCCTGAGGTTCATTATTATCATTCTCTTTACTTCCATATGCTTGAAATTTTCCATAAGTTAAAAAAATCAAATCCTCCTGAATATAATGATGATTGAAACACATCATAAACTATTTAGGAGGCTCCTGTAGTTGGCTATGTGAGATGAAAGTGGCCTGCATTAGACAGTGGAAACAAAAACCAGAATTCAATAGATATTTAGGGCCGGGCACAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTAGAACCCCGCCTCTACTAAAAATTAGCTGGGCATGATGGCGGGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGCAGTGAGTCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGATATTTAGGAGGCAGAATCCATAGGGCTTGGTGCTTGGTAATTAATTGATTATGTAAAGTGAAAGAGGGAGAAGTCAAGGATGAGGCTCAAATTTCTGGCTGAGCATGTGAGTGGCACTGAGGAGATGGGTAAATATGGGGAGGAAGGCTAGGGCTTGAGGTACCTGTGGGACCTAGCATAGAGATTGCAGCGGAAGCCACGGAAGTAAAGTGATATCCAGGATGAAAGAATGCCAAGTGAGGAGGAAAGAGCCCTGAGGAACACCTGAGGTCAATCTGTTCACTGTACTGAAGTCTCTTCTCTGTGTGGACCTAGGCTTAGCTTAGTTATATACACACATGGAAGGGGAAGACTGATAGCAGGCAAGGGCAGGGGCAACTTGGGGTATGGGGTAGGGAATGTGCATATGTCTGTTTGAATATATGAGGTGGAGATCCTGCCTCACAACTGAATCCTCCCACCCTTGCCAGCTTTCCCCTCTTTCCAGCCATGGTCTTCACAGAGCCCCCAGATGGGCTGACCTCCTCTCTGGACAACTAGGAAGATAGTCCCACTCCCACCCAACCCCCACCCCCACCACACCCCTGTGGTTGATCCTCACCTTCAGATCCTCACACAGATCACCGTAGTCAATCTCAATGAGGGCCTCTCGTGCATAGATACTGGAAATTCTCTGTGAACCACTCACTGAGTCCTCCCCCTGGGAGCTACCCTGCAATGGCAACGGAGAGTCAAGTGGAGCAGACTGGCCATGAGAGTGCACCTCTATAGGGAGCTCCTTTGCAGCCTTCAATCTTTGAGAAAGCACCTTGCTAGAAAGCACCATGGCAGAAGGAACAGAGGCTTTGCAGGCAGAATGACTCAAGTTCAAAATTGAGCTCTATGGCCAGGTGCAGTGGCTTGCGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGAATCACTTCAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAATGAAACTCTGTCTCTACTAAAAACACAAAAATTAGCCAGGAGTGGTGGTGCATGCCTGTAATCCCAGCTACATGGGAGACTGAGGCACAAGAATCACTTGAAACTGGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCACTGCACTTCAGCCTGGGTGACAAAACAAGACTCTGTCTCAAAAAATAAAAATAAAAATAAATAAAAAAAATTTGAGGTCTACACTTACTAACATTGTGATTTTGGGCAAGTCACATTCTCAGATCCTGAGTCTCTTCACCTGTAATGTGGGGATAATGCCTGTCTGGCAGGTCTGTGGTTAGGATTGGGGTAATTATGTCACATGCTACCATGATGCCCAGAACATTTCTGGTATTCAAAATATTTTACTGAATTAAACTGAAATGCCATTTGGAAAGTGAGGAGGGAGAAAGATACATGGGACTGAGATATATAACCAGGTCTAAGACAAGATATTAATATATGCAAACCTCCTCTCAGTTAACATTTCCCATCCCCTTGCTACAAATCTTTGCTTCCACTGCTCCTCTTTGGCTAGTATCTCTGGTTTTCCTATAACTAAACTTCCTCACCTCTGCATTGCTGATGTCCCTTACCTAACCCTCTCCTGGCCAATCTTCCTCACTGCAGCTAAGCTATCACCCTCAGGTCCCCTAGCTTTCTGTCTTCCTTTGCTCTTGGCTAATGTCCCTCAATTCCCACTCCTACCAATTTCTGTCACCTGCTGGAGCTAATATAGCTCAGGTCCCTAAGGTTAATGAATTACTTCATTCTTTCCTGGCTCAACTCTCTCACCACCCACTCACTGGCTTGCAGCTTTACTCCCAATTCAACTTCTCTCTCACACCAAAGCCATTATTACCTTTCGCCTCACCTGCCTTCACCACTGCACCTTGCCTCATTTCTGCTGCATCCCTTTTCATGTCCCTTCACCATCTGCCCACCATCTTTCTCTCTCTCACTGCCCTTCCTGGTCACTTTCACTCCCCATCCCTGGTTAATGATGTTCATCGCCCACTCCCACCACCAGCCACAATACTCACCTCTTCCTGACTAATATCATCCATGGTGCCTTTTGACAGTGGCAACTTAATGTCCTGCATCTTACAGGCCTGTAGCAAGTTGTGACGGTCACTGCGCTTCTGTTCAAGCTTGGTCTCAATGGCTGTCACCTCCTTCTGTAAATGGGTCATTTCCCTAAAAAAGGTCCAGGGGCTAGGTGAGACCCAAATCTGGCAGGCTGCCTGCTCTATCTACGTCCTCCCACCCCAGGCCTGAACCCACTCACTTGTTGGCGCCCCCGAGTTTCTTACGAATCTCCTCCATCTCATGATTCTTGTCATTCACTTCCGACTTCTTGGCCAGATGCTGATTCTTCAGGTCTTGTAGCTGAGCCATGGTCTCATCTATGATCTTCATGTGTCTTTGTTCCTCCTGGTCCCAGCAGTGGGAACAGGACAATAGGTGAAGACTTTCCCCATCTTACCCTGGGATATTCTCCTGCTCCCACCCTTCCTACTAGGCAGTTTATTGGAGTCACTCGTCAATGAGCTTTGCTTTCACACCCCCATCACCCCTCAGCCTCCTATCTTTTTAAAATTTGGTTGTCCTCTCCCACACACCCCAATTTTACAAGTTATCTAATATATGTAGAAAAGTATAGAGAAAGTATTAAGTGGGGAATCACTCACAATCTCATCAGCTAGATAATCAATTAACAT
|
GAGATTACAGGCATGAGCCACTGTGCCCGGCCCTAAATATCTATTGAATTCTGGTTTTTGTTTCCACTGTCTCTAATGCAGGACACTTTCGTCTCACATAGCCAACTACAGGAGCCTCCTAAATAGTTTATGATGTGTTTCAATCATCATATTCAGGAGGATTGGATATAGAAGCTTGATCAGATCCACGTTTGTTTTTTGGCAAGAATACTTCATAGCTAATGTTGAACACTGGTCAATGTTAACATTACAAAGAAAGTGAGAACTGACATCAGGTGTCTACTGATGTGATGTAGAAGGAAGTTCACAAGTACACAACATCACCTATGATATATTCTTGCCAAAAAAAGAACTTGAATCCAATCAAACCCTAGATTTACCTACCAGTTTATAGGAAATACAAGGAATAGAAAAAACATGTTCAGTAACATCAAGGGGACATAATCAGCCAAATCTAGAATGCAGACAATTCTATAGTACCAACGACCCAGTTCCTTCCATAGATAAATACGAAGGAAAAAAATAAAATAAAAACGAAGAAGAAAATGTTATAGACTAGCAGAGACCAATTTTAACATATGGACCTTACTGGAATATTGATCTAAACACATAAACTGCAAAAAAAATAAAAATAAAAAAATATTATGGGACTTTCATGGAAATCTAAACATTTACTGATTAGATGATATTGTGGAGTTATTGTTAAATATTTTCAGATATAATATTATGGTTGTTTTTCTTAAAAGTTCTCATATTCTAGAGATACATGCTGAGGTAATTATGGATGGAGTAATGTCTAGTTTTCTTTAAAATACTCCAATGGGGGGTATAAAAAATAAGATTGCTTAACTGTTGAAGCTGAGTGCCTGAGGTTCATTATTATCATTCTCTTTACTTCCATATGCTTGAAATTTTCCATAAGTTAAAAAAATCAAATCCTCCTGAATATAATGATGATTGAAACACATCATAAACTATTTAGGAGGCTCCTGTAGTTGGCTATGTGAGATGAAAGTGGCCTGCATTAGACAGTGGAAACAAAAACCAGAATTCAATAGATATTTAGGGCCGGGCACAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTAGAACCCCGCCTCTACTAAAAATTAGCTGGGCATGATGGCGGGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGCAGTGAGTCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGATATTTAGGAGGCAGAATCCATAGGGCTTGGTGCTTGGTAATTAATTGATTATGTAAAGTGAAAGAGGGAGAAGTCAAGGATGAGGCTCAAATTTCTGGCTGAGCATGTGAGTGGCACTGAGGAGATGGGTAAATATGGGGAGGAAGGCTAGGGCTTGAGGTACCTGTGGGACCTAGCATAGAGATTGCAGCGGAAGCCACGGAAGTAAAGTGATATCCAGGATGAAAGAATGCCAAGTGAGGAGGAAAGAGCCCTGAGGAACACCTGAGGTCAATCTGTTCACTGTACTGAAGTCTCTTCTCTGTGTGGACCTAGGCTTAGCTTAGTTATATACACACATGGAAGGGGAAGACTGATAGCAGGCAAGGGCAGGGGCAACTTGGGGTATGGGGTAGGGAATGTGCATATGTCTGTTTGAATATATGAGGTGGAGATCCTGCCTCACAACTGAATCCTCCCACCCTTGCCAGCTTTCCCCTCTTTCCAGCCATGGTCTTCACAGAGCCCCCAGATGGGCTGACCTCCTCTCTGGACAACTAGGAAGATAGTCCCACTCCCACCCAACCCCCACCCCCACCACACCCCTGTGGTTGATCCTCACCTTCAGATCCTCACACAGATCACCGTAGTCAATCTCAATGAGGGCCTCTCGTGCATAGATACTGGAAATTCTCTGTGAACCACTGAGTCCTCCCCCTGGGAGCTACCCTGCAATGGCAACGGAGAGTCAAGTGGAGCAGACTGGCCATGAGAGTGCACCTCTATAGGGAGCTCCTTTGCAGCCTTCAATCTTTGAGAAAGCACCTTGCTAGAAAGCACCATGGCAGAAGGAACAGAGGCTTTGCAGGCAGAATGACTCAAGTTCAAAATTGAGCTCTATGGCCAGGTGCAGTGGCTTGCGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGAATCACTTCAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAATGAAACTCTGTCTCTACTAAAAACACAAAAATTAGCCAGGAGTGGTGGTGCATGCCTGTAATCCCAGCTACATGGGAGACTGAGGCACAAGAATCACTTGAAACTGGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCACTGCACTTCAGCCTGGGTGACAAAACAAGACTCTGTCTCAAAAAATAAAAATAAAAATAAATAAAAAAAATTTGAGGTCTACACTTACTAACATTGTGATTTTGGGCAAGTCACATTCTCAGATCCTGAGTCTCTTCACCTGTAATGTGGGGATAATGCCTGTCTGGCAGGTCTGTGGTTAGGATTGGGGTAATTATGTCACATGCTACCATGATGCCCAGAACATTTCTGGTATTCAAAATATTTTACTGAATTAAACTGAAATGCCATTTGGAAAGTGAGGAGGGAGAAAGATACATGGGACTGAGATATATAACCAGGTCTAAGACAAGATATTAATATATGCAAACCTCCTCTCAGTTAACATTTCCCATCCCCTTGCTACAAATCTTTGCTTCCACTGCTCCTCTTTGGCTAGTATCTCTGGTTTTCCTATAACTAAACTTCCTCACCTCTGCATTGCTGATGTCCCTTACCTAACCCTCTCCTGGCCAATCTTCCTCACTGCAGCTAAGCTATCACCCTCAGGTCCCCTAGCTTTCTGTCTTCCTTTGCTCTTGGCTAATGTCCCTCAATTCCCACTCCTACCAATTTCTGTCACCTGCTGGAGCTAATATAGCTCAGGTCCCTAAGGTTAATGAATTACTTCATTCTTTCCTGGCTCAACTCTCTCACCACCCACTCACTGGCTTGCAGCTTTACTCCCAATTCAACTTCTCTCTCACACCAAAGCCATTATTACCTTTCGCCTCACCTGCCTTCACCACTGCACCTTGCCTCATTTCTGCTGCATCCCTTTTCATGTCCCTTCACCATCTGCCCACCATCTTTCTCTCTCTCACTGCCCTTCCTGGTCACTTTCACTCCCCATCCCTGGTTAATGATGTTCATCGCCCACTCCCACCACCAGCCACAATACTCACCTCTTCCTGACTAATATCATCCATGGTGCCTTTTGACAGTGGCAACTTAATGTCCTGCATCTTACAGGCCTGTAGCAAGTTGTGACGGTCACTGCGCTTCTGTTCAAGCTTGGTCTCAATGGCTGTCACCTCCTTCTGTAAATGGGTCATTTCCCTAAAAAAGGTCCAGGGGCTAGGTGAGACCCAAATCTGGCAGGCTGCCTGCTCTATCTACGTCCTCCCACCCCAGGCCTGAACCCACTCACTTGTTGGCGCCCCCGAGTTTCTTACGAATCTCCTCCATCTCATGATTCTTGTCATTCACTTCCGACTTCTTGGCCAGATGCTGATTCTTCAGGTCTTGTAGCTGAGCCATGGTCTCATCTATGATCTTCATGTGTCTTTGTTCCTCCTGGTCCCAGCAGTGGGAACAGGACAATAGGTGAAGACTTTCCCCATCTTACCCTGGGATATTCTCCTGCTCCCACCCTTCCTACTAGGCAGTTTATTGGAGTCACTCGTCAATGAGCTTTGCTTTCACACCCCCATCACCCCTCAGCCTCCTATCTTTTTAAAATTTGGTTGTCCTCTCCCACACACCCCAATTTTACAAGTTATCTAATATATGTAGAAAAGTATAGAGAAAGTATTAAGTGGGGAATCACTCACAATCTCATCAGCTAGATAATCAATTAACATNNNN
|
pathogenic
| 334,658 |
Assess the variant on chromosome X, position 53396232, impacting SMC1A (structural maintenance of chromosomes 1A): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Congenital_muscular_hypertrophy-cerebral_syndrome', 'Developmental_and_epileptic_encephalopathy,_85,_with_or_without_midline_brain_defects']
|
GAGGCAGAATCCATAGGGCTTGGTGCTTGGTAATTAATTGATTATGTAAAGTGAAAGAGGGAGAAGTCAAGGATGAGGCTCAAATTTCTGGCTGAGCATGTGAGTGGCACTGAGGAGATGGGTAAATATGGGGAGGAAGGCTAGGGCTTGAGGTACCTGTGGGACCTAGCATAGAGATTGCAGCGGAAGCCACGGAAGTAAAGTGATATCCAGGATGAAAGAATGCCAAGTGAGGAGGAAAGAGCCCTGAGGAACACCTGAGGTCAATCTGTTCACTGTACTGAAGTCTCTTCTCTGTGTGGACCTAGGCTTAGCTTAGTTATATACACACATGGAAGGGGAAGACTGATAGCAGGCAAGGGCAGGGGCAACTTGGGGTATGGGGTAGGGAATGTGCATATGTCTGTTTGAATATATGAGGTGGAGATCCTGCCTCACAACTGAATCCTCCCACCCTTGCCAGCTTTCCCCTCTTTCCAGCCATGGTCTTCACAGAGCCCCCAGATGGGCTGACCTCCTCTCTGGACAACTAGGAAGATAGTCCCACTCCCACCCAACCCCCACCCCCACCACACCCCTGTGGTTGATCCTCACCTTCAGATCCTCACACAGATCACCGTAGTCAATCTCAATGAGGGCCTCTCGTGCATAGATACTGGAAATTCTCTGTGAACCACTCACTGAGTCCTCCCCCTGGGAGCTACCCTGCAATGGCAACGGAGAGTCAAGTGGAGCAGACTGGCCATGAGAGTGCACCTCTATAGGGAGCTCCTTTGCAGCCTTCAATCTTTGAGAAAGCACCTTGCTAGAAAGCACCATGGCAGAAGGAACAGAGGCTTTGCAGGCAGAATGACTCAAGTTCAAAATTGAGCTCTATGGCCAGGTGCAGTGGCTTGCGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGAATCACTTCAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAATGAAACTCTGTCTCTACTAAAAACACAAAAATTAGCCAGGAGTGGTGGTGCATGCCTGTAATCCCAGCTACATGGGAGACTGAGGCACAAGAATCACTTGAAACTGGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCACTGCACTTCAGCCTGGGTGACAAAACAAGACTCTGTCTCAAAAAATAAAAATAAAAATAAATAAAAAAAATTTGAGGTCTACACTTACTAACATTGTGATTTTGGGCAAGTCACATTCTCAGATCCTGAGTCTCTTCACCTGTAATGTGGGGATAATGCCTGTCTGGCAGGTCTGTGGTTAGGATTGGGGTAATTATGTCACATGCTACCATGATGCCCAGAACATTTCTGGTATTCAAAATATTTTACTGAATTAAACTGAAATGCCATTTGGAAAGTGAGGAGGGAGAAAGATACATGGGACTGAGATATATAACCAGGTCTAAGACAAGATATTAATATATGCAAACCTCCTCTCAGTTAACATTTCCCATCCCCTTGCTACAAATCTTTGCTTCCACTGCTCCTCTTTGGCTAGTATCTCTGGTTTTCCTATAACTAAACTTCCTCACCTCTGCATTGCTGATGTCCCTTACCTAACCCTCTCCTGGCCAATCTTCCTCACTGCAGCTAAGCTATCACCCTCAGGTCCCCTAGCTTTCTGTCTTCCTTTGCTCTTGGCTAATGTCCCTCAATTCCCACTCCTACCAATTTCTGTCACCTGCTGGAGCTAATATAGCTCAGGTCCCTAAGGTTAATGAATTACTTCATTCTTTCCTGGCTCAACTCTCTCACCACCCACTCACTGGCTTGCAGCTTTACTCCCAATTCAACTTCTCTCTCACACCAAAGCCATTATTACCTTTCGCCTCACCTGCCTTCACCACTGCACCTTGCCTCATTTCTGCTGCATCCCTTTTCATGTCCCTTCACCATCTGCCCACCATCTTTCTCTCTCTCACTGCCCTTCCTGGTCACTTTCACTCCCCATCCCTGGTTAATGATGTTCATCGCCCACTCCCACCACCAGCCACAATACTCACCTCTTCCTGACTAATATCATCCATGGTGCCTTTTGACAGTGGCAACTTAATGTCCTGCATCTTACAGGCCTGTAGCAAGTTGTGACGGTCACTGCGCTTCTGTTCAAGCTTGGTCTCAATGGCTGTCACCTCCTTCTGTAAATGGGTCATTTCCCTAAAAAAGGTCCAGGGGCTAGGTGAGACCCAAATCTGGCAGGCTGCCTGCTCTATCTACGTCCTCCCACCCCAGGCCTGAACCCACTCACTTGTTGGCGCCCCCGAGTTTCTTACGAATCTCCTCCATCTCATGATTCTTGTCATTCACTTCCGACTTCTTGGCCAGATGCTGATTCTTCAGGTCTTGTAGCTGAGCCATGGTCTCATCTATGATCTTCATGTGTCTTTGTTCCTCCTGGTCCCAGCAGTGGGAACAGGACAATAGGTGAAGACTTTCCCCATCTTACCCTGGGATATTCTCCTGCTCCCACCCTTCCTACTAGGCAGTTTATTGGAGTCACTCGTCAATGAGCTTTGCTTTCACACCCCCATCACCCCTCAGCCTCCTATCTTTTTAAAATTTGGTTGTCCTCTCCCACACACCCCAATTTTACAAGTTATCTAATATATGTAGAAAAGTATAGAGAAAGTATTAAGTGGGGAATCACTCACAATCTCATCAGCTAGATAATCAATTAACATTCTAGCACATTTTCTTTCAGCATTTGATTTACAGACAGTTTTACATAGTTGAGACTAGACTGTAATTAAAACTCTGTATTCTGACTTAATGTTATATTTGAGCATTTTTTTCTACATCAAAACTTTGTCATGTGCAGTATGGTAACATTTGTTGTTGTTGTTTTTTTTTTAAACCCACACAAACAATACTGTGCATTTTCTATGAATACACATATGTAAATGTACAAGTATTTAAGTAAATCCTTAAAGGGTCTGGAAGAATCACCTCTGGCAAGACGAAGGGGACTAGGATGAAGAGTGGTCAGCCAAAGGGGATTATAGCCTTATGTATAATGTTCTGATTTTTACAAAGGAAAATTTTTGTTTTCATTTTGATCTTAAGTCACATAAAGGGGGCCTGGTGGAGTGGCTTACACTTGTGATTCCAGCACTTTGGGAAGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAATAAGGCAAAACCCCGTCTCTACAAAGAATACAAAAATTAGCTGGGTGTGGTGGCACACGCCTGTGGTCCCAGCTACTTGAGAGGTTGAGGCGGGAGGATCATTTGAGCCTGGGAGGCGGAGGTTGCAGTCAGCTGAGATCGTGCCTCTGCACTCTAAACAGGGCGACAGGGCGAGACCTTGTCTCAAAAAAAAAAATAATAATCACATAAAGGGGACATATCTGCAACTTACTCCCAAATGGCTCATAAAAAATAATAAGCATATATATAGAGAGAGAATGCAAAAGATAATGCGGCAACATGTTGATGACCGATGAATCTTGGTGATGGGTAGATAGGAGTTCTTTGTACTATTCCTTGCAATTTTTTGCAAAGTTGAAAATTATTTCAAAATAAAAAGTAAAAAAATTACATATATGTAATATCCCAAATCATCTAGGTATCTAACTTGTCTTGCCTCAGGATTTTACTGCCCAAGCTACAACTGCATTTAAGATTTCAGACACCAGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGCGAACATTGTGAAACCCCATCTCTACTAAAATACAAAAAATTAGCCAGGCGTGATGGCGGGTGCCTGTAATTCCAGCTACTCAGGAGGCAGAGGCAGGAGTTATCGCTTGAACCTGGAAGGCAGAGGCTGCAGTGAGCCAAGTACTATTGCACTCTAGCCTAGGAAACAAGATCAAAACTGAGTCTCAAAAAAAAAAAAAAAAAAGATTTCAGACACTAAAGAGGACTACTTTAATCATCAGGGGTTAATGATGAAAACACAGAAACAAGCGACAAACATAGG
|
GAGGCAGAATCCATAGGGCTTGGTGCTTGGTAATTAATTGATTATGTAAAGTGAAAGAGGGAGAAGTCAAGGATGAGGCTCAAATTTCTGGCTGAGCATGTGAGTGGCACTGAGGAGATGGGTAAATATGGGGAGGAAGGCTAGGGCTTGAGGTACCTGTGGGACCTAGCATAGAGATTGCAGCGGAAGCCACGGAAGTAAAGTGATATCCAGGATGAAAGAATGCCAAGTGAGGAGGAAAGAGCCCTGAGGAACACCTGAGGTCAATCTGTTCACTGTACTGAAGTCTCTTCTCTGTGTGGACCTAGGCTTAGCTTAGTTATATACACACATGGAAGGGGAAGACTGATAGCAGGCAAGGGCAGGGGCAACTTGGGGTATGGGGTAGGGAATGTGCATATGTCTGTTTGAATATATGAGGTGGAGATCCTGCCTCACAACTGAATCCTCCCACCCTTGCCAGCTTTCCCCTCTTTCCAGCCATGGTCTTCACAGAGCCCCCAGATGGGCTGACCTCCTCTCTGGACAACTAGGAAGATAGTCCCACTCCCACCCAACCCCCACCCCCACCACACCCCTGTGGTTGATCCTCACCTTCAGATCCTCACACAGATCACCGTAGTCAATCTCAATGAGGGCCTCTCGTGCATAGATACTGGAAATTCTCTGTGAACCACTCACTGAGTCCTCCCCCTGGGAGCTACCCTGCAATGGCAACGGAGAGTCAAGTGGAGCAGACTGGCCATGAGAGTGCACCTCTATAGGGAGCTCCTTTGCAGCCTTCAATCTTTGAGAAAGCACCTTGCTAGAAAGCACCATGGCAGAAGGAACAGAGGCTTTGCAGGCAGAATGACTCAAGTTCAAAATTGAGCTCTATGGCCAGGTGCAGTGGCTTGCGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGAATCACTTCAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAATGAAACTCTGTCTCTACTAAAAACACAAAAATTAGCCAGGAGTGGTGGTGCATGCCTGTAATCCCAGCTACATGGGAGACTGAGGCACAAGAATCACTTGAAACTGGGAGGCGGAGGCTGCAGTGAGCCAAGATCACGCCACTGCACTTCAGCCTGGGTGACAAAACAAGACTCTGTCTCAAAAAATAAAAATAAAAATAAATAAAAAAAATTTGAGGTCTACACTTACTAACATTGTGATTTTGGGCAAGTCACATTCTCAGATCCTGAGTCTCTTCACCTGTAATGTGGGGATAATGCCTGTCTGGCAGGTCTGTGGTTAGGATTGGGGTAATTATGTCACATGCTACCATGATGCCCAGAACATTTCTGGTATTCAAAATATTTTACTGAATTAAACTGAAATGCCATTTGGAAAGTGAGGAGGGAGAAAGATACATGGGACTGAGATATATAACCAGGTCTAAGACAAGATATTAATATATGCAAACCTCCTCTCAGTTAACATTTCCCATCCCCTTGCTACAAATCTTTGCTTCCACTGCTCCTCTTTGGCTAGTATCTCTGGTTTTCCTATAACTAAACTTCCTCACCTCTGCATTGCTGATGTCCCTTACCTAACCCTCTCCTGGCCAATCTTCCTCACTGCAGCTAAGCTATCACCCTCAGGTCCCCTAGCTTTCTGTCTTCCTTTGCTCTTGGCTAATGTCCCTCAATTCCCACTCCTACCAATTTCTGTCACCTGCTGGAGCTAATATAGCTCAGGTCCCTAAGGTTAATGAATTACTTCATTCTTTCCTGGCTCAACTCTCTCACCACCCACTCACTGGCTTGCAGCTTTACTCCCAATTCAACTTCTCTCTCACACCAAAGCCATTATTACCTTTCGCCTCACCTGCCTTCACCACTGCACCTTGCCTCATTTCTGCTGCATCCCTTTTCATGTCCCTTCACCATCTGCCCACCATCTTTCTCTCTCTCACTGCCCTTCCTGGTCACTTTCACTCCCCATCCCTGGTTAATGATGTTCATCGCCCACTCCCACCACCAGCCACAATACTCACCTCTTCCTAATATCATCCATGGTGCCTTTTGACAGTGGCAACTTAATGTCCTGCATCTTACAGGCCTGTAGCAAGTTGTGACGGTCACTGCGCTTCTGTTCAAGCTTGGTCTCAATGGCTGTCACCTCCTTCTGTAAATGGGTCATTTCCCTAAAAAAGGTCCAGGGGCTAGGTGAGACCCAAATCTGGCAGGCTGCCTGCTCTATCTACGTCCTCCCACCCCAGGCCTGAACCCACTCACTTGTTGGCGCCCCCGAGTTTCTTACGAATCTCCTCCATCTCATGATTCTTGTCATTCACTTCCGACTTCTTGGCCAGATGCTGATTCTTCAGGTCTTGTAGCTGAGCCATGGTCTCATCTATGATCTTCATGTGTCTTTGTTCCTCCTGGTCCCAGCAGTGGGAACAGGACAATAGGTGAAGACTTTCCCCATCTTACCCTGGGATATTCTCCTGCTCCCACCCTTCCTACTAGGCAGTTTATTGGAGTCACTCGTCAATGAGCTTTGCTTTCACACCCCCATCACCCCTCAGCCTCCTATCTTTTTAAAATTTGGTTGTCCTCTCCCACACACCCCAATTTTACAAGTTATCTAATATATGTAGAAAAGTATAGAGAAAGTATTAAGTGGGGAATCACTCACAATCTCATCAGCTAGATAATCAATTAACATTCTAGCACATTTTCTTTCAGCATTTGATTTACAGACAGTTTTACATAGTTGAGACTAGACTGTAATTAAAACTCTGTATTCTGACTTAATGTTATATTTGAGCATTTTTTTCTACATCAAAACTTTGTCATGTGCAGTATGGTAACATTTGTTGTTGTTGTTTTTTTTTTAAACCCACACAAACAATACTGTGCATTTTCTATGAATACACATATGTAAATGTACAAGTATTTAAGTAAATCCTTAAAGGGTCTGGAAGAATCACCTCTGGCAAGACGAAGGGGACTAGGATGAAGAGTGGTCAGCCAAAGGGGATTATAGCCTTATGTATAATGTTCTGATTTTTACAAAGGAAAATTTTTGTTTTCATTTTGATCTTAAGTCACATAAAGGGGGCCTGGTGGAGTGGCTTACACTTGTGATTCCAGCACTTTGGGAAGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGACAATAAGGCAAAACCCCGTCTCTACAAAGAATACAAAAATTAGCTGGGTGTGGTGGCACACGCCTGTGGTCCCAGCTACTTGAGAGGTTGAGGCGGGAGGATCATTTGAGCCTGGGAGGCGGAGGTTGCAGTCAGCTGAGATCGTGCCTCTGCACTCTAAACAGGGCGACAGGGCGAGACCTTGTCTCAAAAAAAAAAATAATAATCACATAAAGGGGACATATCTGCAACTTACTCCCAAATGGCTCATAAAAAATAATAAGCATATATATAGAGAGAGAATGCAAAAGATAATGCGGCAACATGTTGATGACCGATGAATCTTGGTGATGGGTAGATAGGAGTTCTTTGTACTATTCCTTGCAATTTTTTGCAAAGTTGAAAATTATTTCAAAATAAAAAGTAAAAAAATTACATATATGTAATATCCCAAATCATCTAGGTATCTAACTTGTCTTGCCTCAGGATTTTACTGCCCAAGCTACAACTGCATTTAAGATTTCAGACACCAGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGCGAACATTGTGAAACCCCATCTCTACTAAAATACAAAAAATTAGCCAGGCGTGATGGCGGGTGCCTGTAATTCCAGCTACTCAGGAGGCAGAGGCAGGAGTTATCGCTTGAACCTGGAAGGCAGAGGCTGCAGTGAGCCAAGTACTATTGCACTCTAGCCTAGGAAACAAGATCAAAACTGAGTCTCAAAAAAAAAAAAAAAAAAGATTTCAGACACTAAAGAGGACTACTTTAATCATCAGGGGTTAATGATGAAAACACAGAAACAAGCGACAAACATAGGNNNN
|
pathogenic
| 334,659 |
Does the genetic variant at chromosome X, position 53412949, impacting gene SMC1A (structural maintenance of chromosomes 1A), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['Abnormal_heart_valve_morphology', 'Congenital_muscular_hypertrophy-cerebral_syndrome', 'Global_developmental_delay', 'Hirsutism', 'Hypertonia', 'Microcephaly', 'Progressive_sensorineural_hearing_impairment', 'SMC1A-related_disorder']
|
TGGGCAACAGAGTGAGGCTTTGTCTCAAAAAAAAAAAAAAAAAAAGTAGCCAGGCATGGTGGCAAGCACAAGTAATGCTGGATACTCAGGAGGCTCTGGTTGGAAGATTGCTTAAGCCTGGGAAGTCGAAGCTGCAGTGAGCCATGGTCGCACCACTGCACCTCAGCCTGCATGACAGAGAAAGACTCTGTCTCAAAAATAACAATAATCTTGTGACCTTAGGCAAATTACTCTGTGTTGTAATTTCCTCATTCATAAAATAGGGTAATAGTAGCCATTCCATAAAGATAATAATAAATGAAGAATTAAATGAGTGGATACATGTAAAGAACATTGCCTATCATACAGTAAGTGCTCAACAGATGTGAGCTACTGTCATTATCATTGTCATTATCATTAAGATTATCATGGCCAGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACGTAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGACATGGTGGCGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAAAGGTTGTGGTGAGCTGAGATCACATCACTGCACTCCAGCCTGGGCAAGAGCGAAACTCTGTCTCAAAAAAACAAAAAAACAAAAAAAAAGACTATCATTACAGGTTGGGTAACTCTAATCCAAAATGCTTAGGACCGGAAACGTTTCAGATTTTGGATTATTTTGGATTTGGGATGCTCAACCTATATATATCCTTTTCTGTGGACCATCATCCCTAATCTTATAACTATAGCCCACCTCTGTCTCTACTTTCTTCCGTTCTTCCAGATCCAGACGGTCCTGGTCAGCTTTCTGGTCTCGATTGAATTTCTCCAGCTCCTGGGCCAGGGTAGCTGCTCTCTTGCTGGCTTCTTCTTTCAACCGGTGGTATTTCTTCACCTGTGTTAGGGACAGGGAAGGAGAACAGGGATGACCAAGTCAGCAGATGTCAGCCCAGGGATCTCCTCCCTGCCAACCCCTTCCAGAGCTTACCTGATTCTCCTCCAACGTCAAATCTCTGCCCTGACTCTGACTCTCTTCTTCCATCCGTTCTTCAAACTCCTGCCGAGCCTTCTCCACTGACAGCATCTCCTTCTCCAGCTCATCCATGTCACCTTTACGCTTCTTGTAGTGCTTCTGAGCATTCTGCAGAGACTTCTTGGCTGCTTCCAGCTTCTTGATTTTGTGGGAGGTGTTCTCCTTGGCTTTGATGTACTGAGGCCGCTTCTGGTTCAATTCTGAGTCCTTCTCCCTTTTGCCAGAGGGGTGGGGGAAACCAGTGAGAACTATGGAAGAAGGGAGGGTTCCCAGGCTTTTCACCCAAAGGAGAGCTTGAGCCCCTGAGCCAACCTCAGGGAATTACTTAAAAGAACATGGGCGTAATGCCCCACAGATCCTGAAAAAAAGGGGCAGTCTGACTACTCCCTGAAAGGTATGACTTCAGCCTGGCATTCCAGCCACTCCATAAGGCAAAGCTACCAACTCTGCCTCAACCCTGGCCAGGAAGCTCATTAACAACTCCCAAGAACATCCTGTATTTACTTAGTTGGCCCCTCAAATTCCTATCCTTTAAACTTCTAGCTTCAGTTTCCTCTTCTAGGAAGGCCTTCTCAGCCACTCCATTGGCTCGGCCTCACATTGGTTCCTCTTTCTTGGCAAGGCCACCACCCCTTTTGAGTTCTCCCTCATCTGAGCACCTGTCTACCCAGGGCCTGAGTGCTTAAATATTCTATTTGTCTAAACTGCAAGTCAAGAAATGTGCCTGGTTCTTACAAAAGCAAGTTAGGAGAATAACAGAGAAATGAGTATAGGTACTGAACTCCGGGCTCAGAGGAACCCTAATAAACAGCACGGCCTCTTGGTTTCCCACAAGTTGCAGGCCCAGGTCTGCCTCTTACTTGATCTCCTTCTCAATCTGCTGCTGCTCCCGCATCATTTTGCCCAGCTCCTTCTTCTTCTCCTTCAGTTCATCCTCCACCTTGTCCATACGCTTCTTGTCCTTCTCGATCTCCTTGTTCTTTGAGGCCAGTTCCTTGTTGAGCTTCTCAATTTCCACTTCATTATGGTAAAGCTTAAAGAGCTGCAGCTGTACCTGAGCCCGTACTACCTCATCCTTCAGGCGCTGGTACCGGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGCGTTCAGCCGCAATATTTTTCTTGCGATGGTAATTAAACTGTGTGTCCTCTTCAGCCTTCACCATTTCCTTCTTTCGCTTGTCATACTCCTGCGCCAGCTCCCCAGAACGACTAATCTCTTCAAATAGAGCTGTCCTCTCTTTGGGGTTCTTCATGGCAATAGATTCCACAGCACCCTAGTAAAGGTCGAAACACTCTTCCACTTCAGACCCCAGCCAACCCAGTTCACCTTACCCATTTCCACTCCTTCACCCAGAAAAAGTTACCAACTTTCTCTCCCATGCCCCTGCTGCCACATTTCACACTGGGCTTTGAGGACAAATTCCTTGCCCTCTGAGGAGCACAGGGAGCCAAAGGGACAAAGACAACAAAGTGTTATGTGCAGTAACAGAAGCAGCATAGGAAAAGGACAAAATGAAGCTTGGGGGTAGGAGACTGATAGGGATATCTATCTCAGAAGGCTTCCCAAAGGTGACATCTGTGCTGAGTTTGGAAGCTGGAGGGAAACTAACCAAGAAAATAAAAGAAAAAAGGTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGCCAAAATGGTAAAACTCCATCTCTACCCAAAATACAAAAATTAGCCAGGCATGGCGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCAAGGTCGTGCCACTGCACTCCAGCCTAGGTGACAAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAACAAGAACAAAAAACAAACAAACAAAAAAAACAGAGAAAAAGTTATTCTATGAAGAGGAAAAGTAATATGCAAAGACCTGTAGGCCAAAGAAAGCAGGTGAATTTGCAGAACCATAAATGGTTTAAGTAGGCTGGAGTGCAAGGCTGGAGAAGAACATGCAGATGGTATTTGGATTTTGATGATGGTGTTTCCTAAATGATAGGCTTAGGAGTTTGGATCTCATCCTAAGGCAATAGTTCTCAAATTTCGGCCGACATCATAATAAACTGGAGAGCTTGGTAAAACACAAACTGCTGTGCCCCACTCCACAGTTTCTTCCAAGTCAGGAAGTCTAGGATAGGGCCTGAGAATGTGCATTTTCTAACATGTTACCAGGTAATGCTGATACTGCTGGTCTGGAGACTACAGTTTAAGAACCACCATTGTAAGGCAATACGGAATCACTGAAATGTTTTAAGGAAAAAAGGGAGGGGAAACAAAACAAATGTGTGTCCTCATAAGATGAACCTGGCTCAGGGGCCAGACTGAAGTTGGGAAGCTCAGTGAACAAGGTGCTACATTAGTTCAAGGGAGAGATGATAAAGCCTGAGATGGAGCAGACAGAGTGGGGATGGGACATGGTCTGGCAAAAACCAGATAGCCAATAACTGTTAAAAACGCCCACCTGGAAAACGAGGAAGTTACGAGCTTTGATGAGAATGCCCAACTTCTCTAATTCCTCACTGTACTCATGTAGTTGGACCACTTTGTTGTTGATCTTGTACTCAGAAGAACCTCCTACAAGACAATGCATGAGTTGGCAAGGGTCAGGCCTCCTTCCTGTCCCAATCAACTAGTCTAGCCACCTCCCAGGACCCAAGGAGAGCTTTCTGGCCAGCCTCACCCACCTACAATGACACGGGC
|
TGGGCAACAGAGTGAGGCTTTGTCTCAAAAAAAAAAAAAAAAAAAGTAGCCAGGCATGGTGGCAAGCACAAGTAATGCTGGATACTCAGGAGGCTCTGGTTGGAAGATTGCTTAAGCCTGGGAAGTCGAAGCTGCAGTGAGCCATGGTCGCACCACTGCACCTCAGCCTGCATGACAGAGAAAGACTCTGTCTCAAAAATAACAATAATCTTGTGACCTTAGGCAAATTACTCTGTGTTGTAATTTCCTCATTCATAAAATAGGGTAATAGTAGCCATTCCATAAAGATAATAATAAATGAAGAATTAAATGAGTGGATACATGTAAAGAACATTGCCTATCATACAGTAAGTGCTCAACAGATGTGAGCTACTGTCATTATCATTGTCATTATCATTAAGATTATCATGGCCAGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACGTAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGACATGGTGGCGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAAAGGTTGTGGTGAGCTGAGATCACATCACTGCACTCCAGCCTGGGCAAGAGCGAAACTCTGTCTCAAAAAAACAAAAAAACAAAAAAAAAGACTATCATTACAGGTTGGGTAACTCTAATCCAAAATGCTTAGGACCGGAAACGTTTCAGATTTTGGATTATTTTGGATTTGGGATGCTCAACCTATATATATCCTTTTCTGTGGACCATCATCCCTAATCTTATAACTATAGCCCACCTCTGTCTCTACTTTCTTCCGTTCTTCCAGATCCAGACGGTCCTGGTCAGCTTTCTGGTCTCGATTGAATTTCTCCAGCTCCTGGGCCAGGGTAGCTGCTCTCTTGCTGGCTTCTTCTTTCAACCGGTGGTATTTCTTCACCTGTGTTAGGGACAGGGAAGGAGAACAGGGATGACCAAGTCAGCAGATGTCAGCCCAGGGATCTCCTCCCTGCCAACCCCTTCCAGAGCTTACCTGATTCTCCTCCAACGTCAAATCTCTGCCCTGACTCTGACTCTCTTCTTCCATCCGTTCTTCAAACTCCTGCCGAGCCTTCTCCACTGACAGCATCTCCTTCTCCAGCTCATCCATGTCACCTTTACGCTTCTTGTAGTGCTTCTGAGCATTCTGCAGAGACTTCTTGGCTGCTTCCAGCTTCTTGATTTTGTGGGAGGTGTTCTCCTTGGCTTTGATGTACTGAGGCCGCTTCTGGTTCAATTCTGAGTCCTTCTCCCTTTTGCCAGAGGGGTGGGGGAAACCAGTGAGAACTATGGAAGAAGGGAGGGTTCCCAGGCTTTTCACCCAAAGGAGAGCTTGAGCCCCTGAGCCAACCTCAGGGAATTACTTAAAAGAACATGGGCGTAATGCCCCACAGATCCTGAAAAAAAGGGGCAGTCTGACTACTCCCTGAAAGGTATGACTTCAGCCTGGCATTCCAGCCACTCCATAAGGCAAAGCTACCAACTCTGCCTCAACCCTGGCCAGGAAGCTCATTAACAACTCCCAAGAACATCCTGTATTTACTTAGTTGGCCCCTCAAATTCCTATCCTTTAAACTTCTAGCTTCAGTTTCCTCTTCTAGGAAGGCCTTCTCAGCCACTCCATTGGCTCGGCCTCACATTGGTTCCTCTTTCTTGGCAAGGCCACCACCCCTTTTGAGTTCTCCCTCATCTGAGCACCTGTCTACCCAGGGCCTGAGTGCTTAAATATTCTATTTGTCTAAACTGCAAGTCAAGAAATGTGCCTGGTTCTTACAAAAGCAAGTTAGGAGAATAACAGAGAAATGAGTATAGGTACTGAACTCCGGGCTCAGAGGAACCCTAATAAACAGCACGGCCTCTTGGTTTCCCACAAGTTGCAGGCCCAGGTCTGCCTCTTACTTGATCTCCTTCTCAATCTGCTGCTGCTCCCGCATCATTTTGCCCAGCTCCTTCTTCTCCTTCAGTTCATCCTCCACCTTGTCCATACGCTTCTTGTCCTTCTCGATCTCCTTGTTCTTTGAGGCCAGTTCCTTGTTGAGCTTCTCAATTTCCACTTCATTATGGTAAAGCTTAAAGAGCTGCAGCTGTACCTGAGCCCGTACTACCTCATCCTTCAGGCGCTGGTACCGGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGCGTTCAGCCGCAATATTTTTCTTGCGATGGTAATTAAACTGTGTGTCCTCTTCAGCCTTCACCATTTCCTTCTTTCGCTTGTCATACTCCTGCGCCAGCTCCCCAGAACGACTAATCTCTTCAAATAGAGCTGTCCTCTCTTTGGGGTTCTTCATGGCAATAGATTCCACAGCACCCTAGTAAAGGTCGAAACACTCTTCCACTTCAGACCCCAGCCAACCCAGTTCACCTTACCCATTTCCACTCCTTCACCCAGAAAAAGTTACCAACTTTCTCTCCCATGCCCCTGCTGCCACATTTCACACTGGGCTTTGAGGACAAATTCCTTGCCCTCTGAGGAGCACAGGGAGCCAAAGGGACAAAGACAACAAAGTGTTATGTGCAGTAACAGAAGCAGCATAGGAAAAGGACAAAATGAAGCTTGGGGGTAGGAGACTGATAGGGATATCTATCTCAGAAGGCTTCCCAAAGGTGACATCTGTGCTGAGTTTGGAAGCTGGAGGGAAACTAACCAAGAAAATAAAAGAAAAAAGGTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGCCAAAATGGTAAAACTCCATCTCTACCCAAAATACAAAAATTAGCCAGGCATGGCGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCAAGGTCGTGCCACTGCACTCCAGCCTAGGTGACAAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAACAAGAACAAAAAACAAACAAACAAAAAAAACAGAGAAAAAGTTATTCTATGAAGAGGAAAAGTAATATGCAAAGACCTGTAGGCCAAAGAAAGCAGGTGAATTTGCAGAACCATAAATGGTTTAAGTAGGCTGGAGTGCAAGGCTGGAGAAGAACATGCAGATGGTATTTGGATTTTGATGATGGTGTTTCCTAAATGATAGGCTTAGGAGTTTGGATCTCATCCTAAGGCAATAGTTCTCAAATTTCGGCCGACATCATAATAAACTGGAGAGCTTGGTAAAACACAAACTGCTGTGCCCCACTCCACAGTTTCTTCCAAGTCAGGAAGTCTAGGATAGGGCCTGAGAATGTGCATTTTCTAACATGTTACCAGGTAATGCTGATACTGCTGGTCTGGAGACTACAGTTTAAGAACCACCATTGTAAGGCAATACGGAATCACTGAAATGTTTTAAGGAAAAAAGGGAGGGGAAACAAAACAAATGTGTGTCCTCATAAGATGAACCTGGCTCAGGGGCCAGACTGAAGTTGGGAAGCTCAGTGAACAAGGTGCTACATTAGTTCAAGGGAGAGATGATAAAGCCTGAGATGGAGCAGACAGAGTGGGGATGGGACATGGTCTGGCAAAAACCAGATAGCCAATAACTGTTAAAAACGCCCACCTGGAAAACGAGGAAGTTACGAGCTTTGATGAGAATGCCCAACTTCTCTAATTCCTCACTGTACTCATGTAGTTGGACCACTTTGTTGTTGATCTTGTACTCAGAAGAACCTCCTACAAGACAATGCATGAGTTGGCAAGGGTCAGGCCTCCTTCCTGTCCCAATCAACTAGTCTAGCCACCTCCCAGGACCCAAGGAGAGCTTTCTGGCCAGCCTCACCCACCTACAATGACACGGGCNNN
|
pathogenic
| 334,714 |
Variant in SMC1A (structural maintenance of chromosomes 1A), chromosome X, position 53415121—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Congenital_muscular_hypertrophy-cerebral_syndrome']
|
CTTAAAGAGCTGCAGCTGTACCTGAGCCCGTACTACCTCATCCTTCAGGCGCTGGTACCGGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGCGTTCAGCCGCAATATTTTTCTTGCGATGGTAATTAAACTGTGTGTCCTCTTCAGCCTTCACCATTTCCTTCTTTCGCTTGTCATACTCCTGCGCCAGCTCCCCAGAACGACTAATCTCTTCAAATAGAGCTGTCCTCTCTTTGGGGTTCTTCATGGCAATAGATTCCACAGCACCCTAGTAAAGGTCGAAACACTCTTCCACTTCAGACCCCAGCCAACCCAGTTCACCTTACCCATTTCCACTCCTTCACCCAGAAAAAGTTACCAACTTTCTCTCCCATGCCCCTGCTGCCACATTTCACACTGGGCTTTGAGGACAAATTCCTTGCCCTCTGAGGAGCACAGGGAGCCAAAGGGACAAAGACAACAAAGTGTTATGTGCAGTAACAGAAGCAGCATAGGAAAAGGACAAAATGAAGCTTGGGGGTAGGAGACTGATAGGGATATCTATCTCAGAAGGCTTCCCAAAGGTGACATCTGTGCTGAGTTTGGAAGCTGGAGGGAAACTAACCAAGAAAATAAAAGAAAAAAGGTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGCCAAAATGGTAAAACTCCATCTCTACCCAAAATACAAAAATTAGCCAGGCATGGCGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCAAGGTCGTGCCACTGCACTCCAGCCTAGGTGACAAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAACAAGAACAAAAAACAAACAAACAAAAAAAACAGAGAAAAAGTTATTCTATGAAGAGGAAAAGTAATATGCAAAGACCTGTAGGCCAAAGAAAGCAGGTGAATTTGCAGAACCATAAATGGTTTAAGTAGGCTGGAGTGCAAGGCTGGAGAAGAACATGCAGATGGTATTTGGATTTTGATGATGGTGTTTCCTAAATGATAGGCTTAGGAGTTTGGATCTCATCCTAAGGCAATAGTTCTCAAATTTCGGCCGACATCATAATAAACTGGAGAGCTTGGTAAAACACAAACTGCTGTGCCCCACTCCACAGTTTCTTCCAAGTCAGGAAGTCTAGGATAGGGCCTGAGAATGTGCATTTTCTAACATGTTACCAGGTAATGCTGATACTGCTGGTCTGGAGACTACAGTTTAAGAACCACCATTGTAAGGCAATACGGAATCACTGAAATGTTTTAAGGAAAAAAGGGAGGGGAAACAAAACAAATGTGTGTCCTCATAAGATGAACCTGGCTCAGGGGCCAGACTGAAGTTGGGAAGCTCAGTGAACAAGGTGCTACATTAGTTCAAGGGAGAGATGATAAAGCCTGAGATGGAGCAGACAGAGTGGGGATGGGACATGGTCTGGCAAAAACCAGATAGCCAATAACTGTTAAAAACGCCCACCTGGAAAACGAGGAAGTTACGAGCTTTGATGAGAATGCCCAACTTCTCTAATTCCTCACTGTACTCATGTAGTTGGACCACTTTGTTGTTGATCTTGTACTCAGAAGAACCTCCTACAAGACAATGCATGAGTTGGCAAGGGTCAGGCCTCCTTCCTGTCCCAATCAACTAGTCTAGCCACCTCCCAGGACCCAAGGAGAGCTTTCTGGCCAGCCTCACCCACCTACAATGACACGGGCAAAGGTACGGTCCTCAGCACCCTCCTCAGAGTAGACCATGCTGACAAAGGCCCGGTTGGCAGCTGGCTTGCCCACAGGAGCTCCATGGATCAGGTCCCGCAGGGTCTTTACCCGCAGGTTGCTGGTTTTTTCACCTAGCACAAAGCTGATGGCATCCATGAGATTTGACTTACCTAAGGGAAGAGGGACGAGGCAGTAGAGGGAAAGTCAGGATGAAGAGGAGAGGAAAAGGAATAAAGATATTGAGATGAACAAAAATGTCCCCTAATCACTCAGTACTCAGACTAATGGGAAGAGAGACTACTCCTCTGTCCCCATAAAGACTGAGCACAACCAAACCTCTGGGTCAAAGGCTTAGGAAAAACAGTCCTTTTGCAGTTACTATATAGCAGCCAGAAGCTAGAACCCAGGATAAGCGTAGTGACTCACACCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGAAGATCGCTTGAGGCCAGGAGTTTGAAACCAGCTTGGACAACAAGGCAAAACCCAGTCTCTACAAAAACTTTAAAAATTAGCTGGGCATGAGCTACTCGGGAGGCTGAGGCAGGAGAATTCCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAATTAGCTGGGCATAGTGGCATGCGCCTGTAGTCTCAGCTACTCAGAAGGCTGAGGAGGGAGGATCGCTTGAGCTCAAGAGTTCAAAGCTGCATGAGCTATGATGACACCACTGCACTCCAGCCTGGGTGACAGAACAAGACTCTCTTTAAAAAAATAGTGAAAAAAAAAAAAAAAGAGGAAAGAATAGTTTAAAAAAAGAAGCTAGAACCCAATCTAAAGAAATGGTATATTCACAGAATGGATAGTTTTACAACCTTTAATGACATGGACAAAAGCCCACAATAGGTGAAACAAACAAGACACAAAACTCAACGATGTTAAAATAATATAAAGTGGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAAATACAAAACTTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCCATCTCAAAAAAAAAAAATAAAATAAAATAAAATAATAATAATAATAATAATGTAAAGTAAAATTTAAAAATAGGCTGGGAGGAGGGGAAAATGGGAGGTTTTTTTTTCTTTTGAGATGGAGTCTTGCTCTGTTGCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACCACAACCTCCGACTCCCTGGTTCAAGGGATTCTCCCACCTCAGCCTCCCGAATAGCTGGGATTACAGGCACACATCACCACACCCAGCTAACTTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTTCTGACCTTGTGATTCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTGGGAGTTGTTTTTTAATGGGCATAGATTTTCATTTTTGCAAGATGAAAAAGTTCTAGAGATCGTTTGCACAAAAACGTGAATATATTTAACACTACTGAACTGCACACTTAAAAATGGTTAATTTAGGAAATTTTATGTGTATTTTACCACCATCTAAAAAAAGTGCATATTCCTGTTGTGAAACAATATGAAACACACAGCATCATTTATGATGTATCTTACCAAAAATATTTAACCTGAATCTATTTTTTTCCTTTTTTTAATTTTTTGTTATAATAAAGACAAGGTCTCGCTGTGTTGCCCAGGCTAGTCTTGAACTCCTGGCCTCAAGTGATCCTCCCGCCGTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATATCCAGCCTAATCTGAATCTAAACAAGCCTTCAGACTTATCTTCCAGTTCCTAGGAAATACAGCAATACAATATAGAGGAACATAGTAAGG
|
CTTAAAGAGCTGCAGCTGTACCTGAGCCCGTACTACCTCATCCTTCAGGCGCTGGTACCGGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGCGTTCAGCCGCAATATTTTTCTTGCGATGGTAATTAAACTGTGTGTCCTCTTCAGCCTTCACCATTTCCTTCTTTCGCTTGTCATACTCCTGCGCCAGCTCCCCAGAACGACTAATCTCTTCAAATAGAGCTGTCCTCTCTTTGGGGTTCTTCATGGCAATAGATTCCACAGCACCCTAGTAAAGGTCGAAACACTCTTCCACTTCAGACCCCAGCCAACCCAGTTCACCTTACCCATTTCCACTCCTTCACCCAGAAAAAGTTACCAACTTTCTCTCCCATGCCCCTGCTGCCACATTTCACACTGGGCTTTGAGGACAAATTCCTTGCCCTCTGAGGAGCACAGGGAGCCAAAGGGACAAAGACAACAAAGTGTTATGTGCAGTAACAGAAGCAGCATAGGAAAAGGACAAAATGAAGCTTGGGGGTAGGAGACTGATAGGGATATCTATCTCAGAAGGCTTCCCAAAGGTGACATCTGTGCTGAGTTTGGAAGCTGGAGGGAAACTAACCAAGAAAATAAAAGAAAAAAGGTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCTAGCCAAAATGGTAAAACTCCATCTCTACCCAAAATACAAAAATTAGCCAGGCATGGCGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCAAGGTCGTGCCACTGCACTCCAGCCTAGGTGACAAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAACAAGAACAAAAAACAAACAAACAAAAAAAACAGAGAAAAAGTTATTCTATGAAGAGGAAAAGTAATATGCAAAGACCTGTAGGCCAAAGAAAGCAGGTGAATTTGCAGAACCATAAATGGTTTAAGTAGGCTGGAGTGCAAGGCTGGAGAAGAACATGCAGATGGTATTTGGATTTTGATGATGGTGTTTCCTAAATGATAGGCTTAGGAGTTTGGATCTCATCCTAAGGCAATAGTTCTCAAATTTCGGCCGACATCATAATAAACTGGAGAGCTTGGTAAAACACAAACTGCTGTGCCCCACTCCACAGTTTCTTCCAAGTCAGGAAGTCTAGGATAGGGCCTGAGAATGTGCATTTTCTAACATGTTACCAGGTAATGCTGATACTGCTGGTCTGGAGACTACAGTTTAAGAACCACCATTGTAAGGCAATACGGAATCACTGAAATGTTTTAAGGAAAAAAGGGAGGGGAAACAAAACAAATGTGTGTCCTCATAAGATGAACCTGGCTCAGGGGCCAGACTGAAGTTGGGAAGCTCAGTGAACAAGGTGCTACATTAGTTCAAGGGAGAGATGATAAAGCCTGAGATGGAGCAGACAGAGTGGGGATGGGACATGGTCTGGCAAAAACCAGATAGCCAATAACTGTTAAAAACGCCCACCTGGAAAACGAGGAAGTTACGAGCTTTGATGAGAATGCCCAACTTCTCTAATTCCTCACTGTACTCATGTAGTTGGACCACTTTGTTGTTGATCTTGTACTCAGAAGAACCTCCTACAAGACAATGCATGAGTTGGCAAGGGTCAGGCCTCCTTCCTGTCCCAATCAACTAGTCTAGCCACCTCCCAGGACCCAAGGAGAGCTTTCTGGCCAGCCTCACCCACCTACAATGACACGGGCAAAGGTACGGTCCTCAGCACCCTCCTCAGAGTAGACCATGCTGACAAAGGCCCGGTTGGCAGCTGGCTTGCCCACAGGAGCTCCATGGATCAGGTCCCGCAGGGTCTTTACCCGCAGGTTGCTGGTTTTTTTCACCTAGCACAAAGCTGATGGCATCCATGAGATTTGACTTACCTAAGGGAAGAGGGACGAGGCAGTAGAGGGAAAGTCAGGATGAAGAGGAGAGGAAAAGGAATAAAGATATTGAGATGAACAAAAATGTCCCCTAATCACTCAGTACTCAGACTAATGGGAAGAGAGACTACTCCTCTGTCCCCATAAAGACTGAGCACAACCAAACCTCTGGGTCAAAGGCTTAGGAAAAACAGTCCTTTTGCAGTTACTATATAGCAGCCAGAAGCTAGAACCCAGGATAAGCGTAGTGACTCACACCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGAAGATCGCTTGAGGCCAGGAGTTTGAAACCAGCTTGGACAACAAGGCAAAACCCAGTCTCTACAAAAACTTTAAAAATTAGCTGGGCATGAGCTACTCGGGAGGCTGAGGCAGGAGAATTCCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAATTAGCTGGGCATAGTGGCATGCGCCTGTAGTCTCAGCTACTCAGAAGGCTGAGGAGGGAGGATCGCTTGAGCTCAAGAGTTCAAAGCTGCATGAGCTATGATGACACCACTGCACTCCAGCCTGGGTGACAGAACAAGACTCTCTTTAAAAAAATAGTGAAAAAAAAAAAAAAAGAGGAAAGAATAGTTTAAAAAAAGAAGCTAGAACCCAATCTAAAGAAATGGTATATTCACAGAATGGATAGTTTTACAACCTTTAATGACATGGACAAAAGCCCACAATAGGTGAAACAAACAAGACACAAAACTCAACGATGTTAAAATAATATAAAGTGGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAAATACAAAACTTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCCATCTCAAAAAAAAAAAATAAAATAAAATAAAATAATAATAATAATAATAATGTAAAGTAAAATTTAAAAATAGGCTGGGAGGAGGGGAAAATGGGAGGTTTTTTTTTCTTTTGAGATGGAGTCTTGCTCTGTTGCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACCACAACCTCCGACTCCCTGGTTCAAGGGATTCTCCCACCTCAGCCTCCCGAATAGCTGGGATTACAGGCACACATCACCACACCCAGCTAACTTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTTCTGACCTTGTGATTCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTGGGAGTTGTTTTTTAATGGGCATAGATTTTCATTTTTGCAAGATGAAAAAGTTCTAGAGATCGTTTGCACAAAAACGTGAATATATTTAACACTACTGAACTGCACACTTAAAAATGGTTAATTTAGGAAATTTTATGTGTATTTTACCACCATCTAAAAAAAGTGCATATTCCTGTTGTGAAACAATATGAAACACACAGCATCATTTATGATGTATCTTACCAAAAATATTTAACCTGAATCTATTTTTTTCCTTTTTTTAATTTTTTGTTATAATAAAGACAAGGTCTCGCTGTGTTGCCCAGGCTAGTCTTGAACTCCTGGCCTCAAGTGATCCTCCCGCCGTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATATCCAGCCTAATCTGAATCTAAACAAGCCTTCAGACTTATCTTCCAGTTCCTAGGAAATACAGCAATACAATATAGAGGAACATAGTAAG
|
pathogenic
| 334,725 |
Does the variant impacting HSD17B10 (hydroxysteroid 17-beta dehydrogenase 10) on chromosome X, position 53431777, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
benign
|
GACACTAACCCCCTCCTAAACATTCGTACACACACAAACACAAAACTTGCTGAACAAATGGCTGGATGAGTGAAACAGGAATGGAGCAAGCCAGTACAGTACCCCGGCCATATTTCTCTGTGTAGATGCGCTCAGTAACCAGCTGCGCCTCGCCATGGATGCACAGGCCACCCATCTGGCCAGGCTGGAGGAGTCCTGTCGTGCGGCCATGATGTGTGCCATGGCCAACGCCAACAAAGCGCAGGTATGGCCTGAGCCATGCAGTACCTTGGGCTCTCCCCAACTCCTGAACAAAATCCTGGAGAACCTTAGCCATATTCTTCCTCTTACATCCCCTCTTAAATCAGCATCAGCCCTCTCATCTGAGTACTCCCCCTTCACTGAAGGCCCCTCTTAGGGTACAAGTCACTTCTCCCCACCTCCAGAAGCAGGATGACTTGAGAATAGAACATTGCCCTCTCATCCTCCGCTTCCCAGTCTAAAGGCTTCCTGAAGGCAGAGAAGTTCCCTGCCCATTCTCCCCAACACATATTAGGGGCATTGAAAGGCCATGCAGTATCTGTTCTTTCTCCTTGAGATGGAAGAGTAGGGCCATGTTCCCCCCTCCCCTGTGACAGAGTTCCCTGAGGTTGGGCACCCAAATGTTTGCATTTGGGGGCTCCACCAGGCAGCTGTGCAGGCTGGGCGTCAGCGCTGTGAGCGTCAGCGTGAACAGAAGGCCAACCTTGCGGAGATCCAGCACCAGAGCACGAGTGACCTACTGACTGAAAACCCCCAGGTCGCCCAACACCCTATGGCTCCCTACCGGGTCCTGCCCTATTGCTGGAAGGGCATGACTCCAGAGCAGCAAGCTGCCATCAGGAAAGAGCAGGAAGTACAACGCTCTAAGAAGCAAGCACACCGTCAGGCTGAGAAAACACTGGATACTGAATGGAAAAGCCAGACCATGAGCTCAGCCCAGGCAGTGCTGGAGCTAGAAGAGCAGGAGAGGGAATTGTGTGCTGTATTTCAAAGGGGTCTAGGATCCTTCAACCAGCAGCTGGCTAATGAGCAAAAAGCCCAGTGAGTTCTAGGTGGTAGTGGTGGAGATAAATGCCAAGGGAGGGAGAGGAGGGATGGTGAGGAACCATGGAGAGAGGGAAAGCATGTCAGCTGAGACCTCTGGACTTCTTTCACAGGCAGGATTACCTGAATTCAGTAATCTACACCAATCAACCTACAGCCCAGTATCACCAGCAGTTTAACACCAGCAGCCGCTAAGTTCAGGATGTCTATCTCTCTCTCCCTTCTCCTCCATCAAGCTCACAGGTGGTTAGGAGTCAAAGAGAAAAATGCTGCATACTCCCACCTTCTAACCTAGGTAATAAAGTTCTGCACTCAAAATCAAGTCCACATGTTGTAACAGGACACAAAGTATTATGAAGGTACTGCCTTTCCCACCCCACCCTGGAGCTCTGAGCATCCAACCCTGTCACAGCCTTCACATTTCTTCCCCATGCCAGGCCCCCTAGCACACAACACTGCCTACACTCTGTGAGAAAAAGAGACTTTATTAGGCACAGAGGGCGACTGGTAGGCAGTTACAAAATGGCTACTGGGCTTCCTCCCAAGCTGGAGAGTAGTACCCCAGGGAAAGGAAGGGCAGAGGAGCGTGTGTTTTCTCTGCCTTCTCCCTTCAAGGCTGCATACGAATGGCCCCATCCAGCCGGATGACCTCTCCATTGAGGAATGGGTTCTCGATGATGGCCTGTACGAGGTGAGCATACTCAGCAGGGTCACCCAGTCGGCTAGGGAAGGGCACTTGGCTGGCCAAGAAGTTGCACACTTTCTCTGGGAGGCTGGTCAGCAGTGGGGTGCCAAACAGACCTAAACAATATAGCCAAATTCAGAGACTCACCCTTGCTTTCATGATTACCTGGTTCTTCCTTACTTTAGCCCTACTTCTTGGTGCTTCTCTGGGGCCCAAAGATAAAAGGCTGCTGCTGCTTAGGTGGTGGATACCTTCCCCTCTCAACTGTCCATGGATCCCACCCAATCCCAGGTATGATGGAGAGAGGGGATATGTCTACCTGGGGCAATGGTCATCACCCGGATACCTATGGGAGCCAGATCCCGAGCAATGGGCAGTGTCATGCCCACTATTCCCCCCTTGGAAGCAGAGTATGCAGCTTGTCCAACCTGGAGAAAGAGTAGAAGTCATAGGTGGGAGGGCCCCAACAAGTCACTTAGGAGGCATAAGTCTTACCCCTGCCCACACACCTGACCCTCGAAGGCAGCCACACTGGCAGTGTTGATGATGACCCCACGTTGGCCTCCCTGGTCTGGTTCATTCTGGCCCATCTCACCAGCCACCAGGCGGATCACATTGAAGGTGCCCATGAGATTCACCTGTAGGACAGATGGAGACATGCTATAGGACCTGAGGCAGAAGAAGCCTTTGTCCCCTAAAAACTTTGGGGTCCTCCACAGCCAGATACTTCTTACTACCACTATCCCTGGAGAACTTCCAAGGCCTTACATCAAGAACTCGCTGGAAGTCTTCCAAGGTATGGGTCTGGCCCTTCTTTAAGTTGTACGTCTTGCTAGCCACCGCGATGCCTGCACAGTTGACAGCTACATCCACACGGCCAAACTTTCCTTTTGCTAGAGCCAGAGCTGTTTGCACATCCTTCTCAGAGGTCACCTTCAAAGAGAGAAGTGGAGAAGGTATTCATCTCCCAGCACCCACTCTTCCCACTAAACCTGAGGGAGGGCAGGGCAGGGCATGCCCAGTCCTTGGGTGAGAAGAGATTTGTGAGAAGGGAGAGGCCAAGAGAAAGGTTGTAAAACTTGAGAGATAGGCTGGGTGCGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACTTAAGATCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAAACCCGTCTCTACTAAAAATACAAAATTAGCCGGCATAGTGACACATGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTGCAGCCTGGGCAACAGTGAGACTCTGTCCCAAAAAAAAAAATTGAGAGAGTAGGTCAAAGGTGAAAATATTAGGTAATATAGAGCAGTGTTGCAAAAACATTTTTCAAATCAATACCTTCTTGATAAATTCACATGCTCCTGAAGATTCTTAATTGCTGTGGATCAGAGCACTAATGCAACCCTGTTGTGAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGTGAGATCAGGAGTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTTCTAAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGTTGAGGCAGGAAAATCGCTTGAACCCAGAAGATGGAGGTTGCAAGGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAATAAAAATAAAAAATAACCCTCTTGTGAGAATTATTGATAGGAAGATAAACTAGCTTTTTTGTATCCTTACCTGCTAAGATGATTTCATCAAGTTTCACTTTCTGTAGTTTGTTTCATGAAAACAAGTTTTTTGACTTTGTAAATATAAAATTACAAGGCACAAAATGCATTTTCAAACCATACATAACTCCTCCAGGAGATTGTTACGTCCAATCCCCATCCTCATTGTTGTGAATCCCAGCTTTAGAGAATCCTTATCACAGGTGGTCCCACAGTGCTTGAAGGCTCAGGCCAAAAGAGACAAGGAGATGGGTCTACCGCCCCCATAGAGGAGACCCTTATGGGAGGGACCCCCACAGGTTCCCAGGCCGGTGTTGGTGACCTCATGCACACCCTGGGAGAGGAGAGGTGACCCCACTTACGTCGGCTGGGGCGAAAACGCAGTTGTTTCCTAACTTCTTGGCTTGGGCCTCCCCACCCGAGTTGGGCAGGTCCAGAAGCACAGCAGAGGCTCCCTGCCCCACA
|
GACACTAACCCCCTCCTAAACATTCGTACACACACAAACACAAAACTTGCTGAACAAATGGCTGGATGAGTGAAACAGGAATGGAGCAAGCCAGTACAGTACCCCGGCCATATTTCTCTGTGTAGATGCGCTCAGTAACCAGCTGCGCCTCGCCATGGATGCACAGGCCACCCATCTGGCCAGGCTGGAGGAGTCCTGTCGTGCGGCCATGATGTGTGCCATGGCCAACGCCAACAAAGCGCAGGTATGGCCTGAGCCATGCAGTACCTTGGGCTCTCCCCAACTCCTGAACAAAATCCTGGAGAACCTTAGCCATATTCTTCCTCTTACATCCCCTCTTAAATCAGCATCAGCCCTCTCATCTGAGTACTCCCCCTTCACTGAAGGCCCCTCTTAGGGTACAAGTCACTTCTCCCCACCTCCAGAAGCAGGATGACTTGAGAATAGAACATTGCCCTCTCATCCTCCGCTTCCCAGTCTAAAGGCTTCCTGAAGGCAGAGAAGTTCCCTGCCCATTCTCCCCAACACATATTAGGGGCATTGAAAGGCCATGCAGTATCTGTTCTTTCTCCTTGAGATGGAAGAGTAGGGCCATGTTCCCCCCTCCCCTGTGACAGAGTTCCCTGAGGTTGGGCACCCAAATGTTTGCATTTGGGGGCTCCACCAGGCAGCTGTGCAGGCTGGGCGTCAGCGCTGTGAGCGTCAGCGTGAACAGAAGGCCAACCTTGCGGAGATCCAGCACCAGAGCACGAGTGACCTACTGACTGAAAACCCCCAGGTCGCCCAACACCCTATGGCTCCCTACCGGGTCCTGCCCTATTGCTGGAAGGGCATGACTCCAGAGCAGCAAGCTGCCATCAGGAAAGAGCAGGAAGTACAACGCTCTAAGAAGCAAGCACACCGTCAGGCTGAGAAAACACTGGATACTGAATGGAAAAGCCAGACCATGAGCTCAGCCCAGGCAGTGCTGGAGCTAGAAGAGCAGGAGAGGGAATTGTGTGCTGTATTTCAAAGGGGTCTAGGATCCTTCAACCAGCAGCTGGCTAATGAGCAAAAAGCCCAGTGAGTTCTAGGTGGTAGTGGTGGAGATAAATGCCAAGGGAGGGAGAGGAGGGATGGTGAGGAACCATGGAGAGAGGGAAAGCATGTCAGCTGAGACCTCTGGACTTCTTTCACAGGCAGGATTACCTGAATTCAGTAATCTACACCAATCAACCTACAGCCCAGTATCACCAGCAGTTTAACACCAGCAGCCGCTAAGTTCAGGATGTCTATCTCTCTCTCCCTTCTCCTCCATCAAGCTCACAGGTGGTTAGGAGTCAAAGAGAAAAATGCTGCATACTCCCACCTTCTAACCTAGGTAATAAAGTTCTGCACTCAAAATCAAGTCCACATGTTGTAACAGGACACAAAGTATTATGAAGGTACTGCCTTTCCCACCCCACCCTGGAGCTCTGAGCATCCAACCCTGTCACAGCCTTCACATTTCTTCCCCATGCCAGGCCCCCTAGCACACAACACTGCCTACACTCTGTGAGAAAAAGAGACTTTATTAGGCACAGAGGGCGACTGGTAGGCAGTTACAAAATGGCTACTGGGCTTCCTCCCAAGCTGGAGAGTAGTACCCCAGGGAAAGGAAGGGCAGAGGAGCGTGTGTTTTCTCTGCCTTCTCCCTTCAAGGCTGCATACGAATGGCCCCATCCAGCCGGATGACCTCTCCATTGAGGAATGGGTTCTCGATGATGGCCTGTACGAGGTGAGCATACTCAGCAGGGTCACCCAGTCGGCTAGGGAAGGGCACTTGGCTGGCCAAGAAGTTGCACACTTTCTCTGGGAGGCTGGTCAGCAGTGGGGTGCCAAACAGACCTAAACAATATAGCCAAATTCAGAGACTCACCCTTGCTTTCATGATTACCTGGTTCTTCCTTACTTTAGCCCTACTTCTTGGTGCTTCTCTGGGGCCCAAAGATAAAAGGCTGCTGCTGCTTAGGTGGTGGATACCTTCCCCTCTCAACTGTCCATGGATCCCACCCAATCCCAGGTATGATGGAGGGGATATGTCTACCTGGGGCAATGGTCATCACCCGGATACCTATGGGAGCCAGATCCCGAGCAATGGGCAGTGTCATGCCCACTATTCCCCCCTTGGAAGCAGAGTATGCAGCTTGTCCAACCTGGAGAAAGAGTAGAAGTCATAGGTGGGAGGGCCCCAACAAGTCACTTAGGAGGCATAAGTCTTACCCCTGCCCACACACCTGACCCTCGAAGGCAGCCACACTGGCAGTGTTGATGATGACCCCACGTTGGCCTCCCTGGTCTGGTTCATTCTGGCCCATCTCACCAGCCACCAGGCGGATCACATTGAAGGTGCCCATGAGATTCACCTGTAGGACAGATGGAGACATGCTATAGGACCTGAGGCAGAAGAAGCCTTTGTCCCCTAAAAACTTTGGGGTCCTCCACAGCCAGATACTTCTTACTACCACTATCCCTGGAGAACTTCCAAGGCCTTACATCAAGAACTCGCTGGAAGTCTTCCAAGGTATGGGTCTGGCCCTTCTTTAAGTTGTACGTCTTGCTAGCCACCGCGATGCCTGCACAGTTGACAGCTACATCCACACGGCCAAACTTTCCTTTTGCTAGAGCCAGAGCTGTTTGCACATCCTTCTCAGAGGTCACCTTCAAAGAGAGAAGTGGAGAAGGTATTCATCTCCCAGCACCCACTCTTCCCACTAAACCTGAGGGAGGGCAGGGCAGGGCATGCCCAGTCCTTGGGTGAGAAGAGATTTGTGAGAAGGGAGAGGCCAAGAGAAAGGTTGTAAAACTTGAGAGATAGGCTGGGTGCGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACTTAAGATCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAAACCCGTCTCTACTAAAAATACAAAATTAGCCGGCATAGTGACACATGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTGCAGCCTGGGCAACAGTGAGACTCTGTCCCAAAAAAAAAAATTGAGAGAGTAGGTCAAAGGTGAAAATATTAGGTAATATAGAGCAGTGTTGCAAAAACATTTTTCAAATCAATACCTTCTTGATAAATTCACATGCTCCTGAAGATTCTTAATTGCTGTGGATCAGAGCACTAATGCAACCCTGTTGTGAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGTGAGATCAGGAGTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTTCTAAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGTTGAGGCAGGAAAATCGCTTGAACCCAGAAGATGGAGGTTGCAAGGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAATAAAAATAAAAAATAACCCTCTTGTGAGAATTATTGATAGGAAGATAAACTAGCTTTTTTGTATCCTTACCTGCTAAGATGATTTCATCAAGTTTCACTTTCTGTAGTTTGTTTCATGAAAACAAGTTTTTTGACTTTGTAAATATAAAATTACAAGGCACAAAATGCATTTTCAAACCATACATAACTCCTCCAGGAGATTGTTACGTCCAATCCCCATCCTCATTGTTGTGAATCCCAGCTTTAGAGAATCCTTATCACAGGTGGTCCCACAGTGCTTGAAGGCTCAGGCCAAAAGAGACAAGGAGATGGGTCTACCGCCCCCATAGAGGAGACCCTTATGGGAGGGACCCCCACAGGTTCCCAGGCCGGTGTTGGTGACCTCATGCACACCCTGGGAGAGGAGAGGTGACCCCACTTACGTCGGCTGGGGCGAAAACGCAGTTGTTTCCTAACTTCTTGGCTTGGGCCTCCCCACCCGAGTTGGGCAGGTCCAGAAGCACAGCAGAGGCTCCCTGCCCCACANNNN
|
benign
| 334,734 |
Clinical significance of chromosome X, position 53562129, gene HUWE1: benign or pathogenic? Name the disease(s) if pathogenic.
|
benign
|
AAGAACATTAAGTGATGGACTATTTCCCCCAAGGTTAAGACAATGCTAAAGCACAGTGAAAATTCTTACAAGAGCTCCGATGAATCCAACAGATCTCTGTAACTCACCTCTGCAGTATAAGAGGAGGGTTGGGCTGGCGATTCCCAGGGTAGTGAACATGAATGGTGTGGCCAGTATTGGCCGTCAGCTGCCTTAGGGTCCTCTGACTGCGCCCGATGCCCTGGGTGAGACGAGTTGTTGAAGAGCCACTGCCCAGTGTCAGAGAACTGTGGTCTGCATGGCGCACCATCAGTGGATGGGTGGTAGGGATATTTCCTGGGGATGGGGGGATGTCTGCTGCAAGGACAATATGTAAAAGGGTCAGTGTCAAAAAGAAATTTCTTCCATGTTTGTTCAAGCAGAATCATGTCTCCTGGGCCTTACTTCCTCACACGGAAACCTGAGCTTTGTCCTTTCTCCCTCATTCCCACAACTCATCTACAATCACTGACACTACCATAGCTTATGCCATCATCTCTCACTTAGATACTGCAACGGCCTCCTAAATAGTACCTTCTCCCAATCCATTTTCCACACTACAGTCACAGTGATGCTTCTAGGCCCCTCAGATACATGCTGCTCCCTTCACCTTGAAGACTCCTCTCCCGCTTCTTTACCTGCTCTTCTCTTCTTGGCCTAAGATGTCACTTTCTCTGTGAAGCCTGACTTCCACAGATTGGGTTAGGTAACTCTTTACCTCTGTGCTCTCTTACTATAGTGCAATGTAATGCCTGCTTAGTTATGATTCCTAATAAACCACTCCTATGAGGAACGAGGACTGTTTTCTTCTTTACTGCTGTATCCCTAGTACCTAGGATACAGTAGGCACTCCTCAAATATTGTTCAATTTGCTGAATGGACAGAGGCTCAACTCTAAGGGAAACTGATGAAAATCACAAAAATGCAAAATAATCATAGATGTTATCTTCAAAGTTATCTAATCCAACCCATTTTTTTCTCGAACTTTTCATTTACAGGTGACAAACTGAGGCTCAAAGAGGTAAGAGATTAATTGGCCAAGAAAACAGACCAGAACAGTTCAGTGTTTTCTGCTACATCATGCTTGTGATTTAAGTTGTCAAGACCTGCCCTATCAAGACAGCTTGATTCTAAGAACTCGATTCTAACTTGACGCTAAAAGGGAAGTTTCACGGTGATGGGGGAGGAAGAGATTCACTCGTTCTCCCGAAAAGACGCATCCTGGATGAATAGAGTGAGTATGTTCAAATCTGCTCCCCAAAGCCAAGCTCAAAGGTGACCATTCAAACCCTCAAGATCTTGTGTTATGGACATAAGGATTATTGATTGCCCTGCCACTGTGGTGTGCACATGGGTGCCTGATGCAGTCAGCCTTGGTCTCTTTCTTTTTTTTAATCAAGCAAATCATCAAGTTGTCCAGGCTCTAAAATGGCTGCCTATTTACTGAGGTGAAGGGAACAAAAGCAGCCTCTCACTATTCCTTCTCCTAAGTATACACTAATGAGACAGATGGATTCAGATATCCCTTGCCCCAGGAAGTCAGCATAGGAAAAGAAGTGCTGTCTGTATCGGATCGGTTTGGTCCACTGCTTGGCTTACCCTAGAGAAGGGTATAAGAATCAAGAGAGAAAAACCCAGCTGAGCCCCTGTATCTTACTAGCACTGGAGAACATGTTGTCAAACTCAATGATGAGATCATCCTCCCGGTCAAAGCGCTCAAATCGGACCAAGGGAGAAGCGTTCATATCAGGATAATCCTCATCCAATTCCATCTCAGAGCCATCGTCGTCATCGTCTTCATCTCCCTCTTCACCTTCATCATCCTCCTTAAGGGAAAATAGGAGATGGAGAATTGCTGGAGGTAAGGGTTTTCTGAAGCCTGGTGCCATGGCCACATGTGCACATGAGGGAGGGAGACGCTGAGGCTAGCAACCCAGACTGTTGGTTTTCTGCAGCTCTATGTTCCCATGGAAGAGGTCATCTGAACCAACCCAAACGCAGTCCCCCCTCACCTGATCATCTTCCTCATCTTCCTCCTCCTCCTCCTCTTCATCCTGACTATCATCCTCATCCTCGTTACTGCCACTGCTGTCCTCTTCCTGAGTGTGCTCCTCCTCATCCTCAGGGTCCAGGATATTCATGGAATCTAAAACAAAGGGAGCACATTGGAGGACTAAACTGAGTAGCTAGAAAACAGGCTACTGTGCAGGCCAGCAGGCTGAGTGGGAAGGTGATGGGATATCTGACTCTATGAGAGGAAGAACCAGATCTGGGGTGATGTACAGACTTAGTGAGCCAGACCCGATTTCCTGAGAGTGCCAATCAATGCATCAACACACTGAGCAGGGTGGCTGAATGTGGAGGCTGGCTAGAGGGTGGTGCTTGAGGAGCCATGGTCTAGGACTTGGCCAAGTCTGCTGGTGCCCCCTTGCCTTTTCAGCCCTACTTTGCTATTGACTATATCCTGTTGGCAAGAGGGAACCTGGAGCGATGATAGCAGGTGGGTGAGAAGAAAGCGAACCAAGTAAGAAGTGACAAACTTTGGGCAAGCAGTAGTAACATGTTATTTGAAAAACTGGCTGAGGATAAAGTGGATGGTGTATGTCAGCGCATGCAGACAGATGCTTCCTTATTCTGCACATGTGGGCAGCTGCCTCCAGGAAAACCCTAGTGTAGTGTCTGTCAGACGTGCAGGGCAAGAAGGGAGGCCTTTCTGGCCTCGGCACTCTCACCTTCTCGGTTGGCCTGCAAGGTGGAAGCTTGGCTGAGGTTGGAAGGAGCTTCATCCATCAGCACGTCCTCTTGTGATTCATCCTCTCCACTTCTGCTCACTGAAGGTTACAGAGCAGAGCCTTCACTGAACAACAGAGGACTTCCCTTTCCAGACTGGGTGCGTCTAAAGTAGCTATGTACACCTAGCAGATATCCACTTTTTTTTGGATGAGGGAGAAGACCTGGATTGTCTGCTGTCAGCTAGCTAGGTGAGCTTGGCCAGTCACTTTACCTGTCTGAGTCTCAGTTTCCTCATCTGTAAAACAGGATGATCACATCTGCCCTGCCAATCCCACTAATTGTGAAACCACAGAGGATACTGGGTATAAAAAAGCTTTGTAAAACTTAAGAATACGTGTCTACTTCCATTTATCCTTTGATTTCCTTGATCAACAAAGTAAAAACAAGTAACACATACACCCTCAGAGCCAGGTGACAGTAGGGTACCTTTGCCATTTTCCCTCTGAGATTTATAAAGGGCCACCCTCAGGGAATGATCATTCTTTTTACACTACTGAGACTCAGGGGCAGAAAGCCCCTGGACTTCATTGAAGAACTGAAAGGCAGCGCTTTCTCACCCTACAGCCTCCTCTAGGCCTCCATGAATAAACACTCTTTTGATGTGCTTGATGTATCATCTGTATCAATGGCCACTCCCACCACCTCCCCCACACAGGCAACACTTTAGACTGCCACAGGCCTGTAGACGTCTTGTGAATTTCTCATCTGTAAGACCGTCAACATCAAGACAAGCAGCGATCTAGGCTGGCTATGAGCCCTTAGGCAGAGCTGAGCAAGCAGATGATGAGAAAAAGGGTCCTCCCAAGAGAGACTGAGGCAAAGGAAGAGGCTATACTCAGTTCTGGGGCTCTCACCTATAATTGTACTGTTCCCAGATCCGCCATCCCTCTCAAGCAACTCATCTATCAGGTCCTCCAGCTCATTCTCAACCTGGAGAGAAATAGAACATATATATGGATGCACACAAGTCTATCATTGTGCTAGCACCGAAACCCTAAAAAAGGCCAGCAAAGCAGCATACATTTCTAGGATAACATGTGACAGAGGATGTTACGTGAAACCACACATTCGGTGCTAATTAGCACAGAAACTACCACGTGCTACCAATCCACAACCAGACTATCCTTCAAATGGGTCCATCCCAGTTATCTGATACTGGGTTGTCTTTATACTGTCCAGGAAGACATAATAGATCTCTTTAAAGCCAGCAGCTTAGGACCACAGGCCCAATTTCTTACCCAATGCTACCAGCTCCAGAAATTACAATGCTTTCCTTTAGGGTCTT
|
AAGAACATTAAGTGATGGACTATTTCCCCCAAGGTTAAGACAATGCTAAAGCACAGTGAAAATTCTTACAAGAGCTCCGATGAATCCAACAGATCTCTGTAACTCACCTCTGCAGTATAAGAGGAGGGTTGGGCTGGCGATTCCCAGGGTAGTGAACATGAATGGTGTGGCCAGTATTGGCCGTCAGCTGCCTTAGGGTCCTCTGACTGCGCCCGATGCCCTGGGTGAGACGAGTTGTTGAAGAGCCACTGCCCAGTGTCAGAGAACTGTGGTCTGCATGGCGCACCATCAGTGGATGGGTGGTAGGGATATTTCCTGGGGATGGGGGGATGTCTGCTGCAAGGACAATATGTAAAAGGGTCAGTGTCAAAAAGAAATTTCTTCCATGTTTGTTCAAGCAGAATCATGTCTCCTGGGCCTTACTTCCTCACACGGAAACCTGAGCTTTGTCCTTTCTCCCTCATTCCCACAACTCATCTACAATCACTGACACTACCATAGCTTATGCCATCATCTCTCACTTAGATACTGCAACGGCCTCCTAAATAGTACCTTCTCCCAATCCATTTTCCACACTACAGTCACAGTGATGCTTCTAGGCCCCTCAGATACATGCTGCTCCCTTCACCTTGAAGACTCCTCTCCCGCTTCTTTACCTGCTCTTCTCTTCTTGGCCTAAGATGTCACTTTCTCTGTGAAGCCTGACTTCCACAGATTGGGTTAGGTAACTCTTTACCTCTGTGCTCTCTTACTATAGTGCAATGTAATGCCTGCTTAGTTATGATTCCTAATAAACCACTCCTATGAGGAACGAGGACTGTTTTCTTCTTTACTGCTGTATCCCTAGTACCTAGGATACAGTAGGCACTCCTCAAATATTGTTCAATTTGCTGAATGGACAGAGGCTCAACTCTAAGGGAAACTGATGAAAATCACAAAAATGCAAAATAATCATAGATGTTATCTTCAAAGTTATCTAATCCAACCCATTTTTTTCTCGAACTTTTCATTTACAGGTGACAAACTGAGGCTCAAAGAGGTAAGAGATTAATTGGCCAAGAAAACAGACCAGAACAGTTCAGTGTTTTCTGCTACATCATGCTTGTGATTTAAGTTGTCAAGACCTGCCCTATCAAGACAGCTTGATTCTAAGAACTCGATTCTAACTTGACGCTAAAAGGGAAGTTTCACGGTGATGGGGGAGGAAGAGATTCACTCGTTCTCCCGAAAAGACGCATCCTGGATGAATAGAGTGAGTATGTTCAAATCTGCTCCCCAAAGCCAAGCTCAAAGGTGACCATTCAAACCCTCAAGATCTTGTGTTATGGACATAAGGATTATTGATTGCCCTGCCACTGTGGTGTGCACATGGGTGCCTGATGCAGTCAGCCTTGGTCTCTTTCTTTTTTTTAATCAAGCAAATCATCAAGTTGTCCAGGCTCTAAAATGGCTGCCTATTTACTGAGGTGAAGGGAACAAAAGCAGCCTCTCACTATTCCTTCTCCTAAGTATACACTAATGAGACAGATGGATTCAGATATCCCTTGCCCCAGGAAGTCAGCATAGGAAAAGAAGTGCTGTCTGTATCGGATCGGTTTGGTCCACTGCTTGGCTTACCCTAGAGAAGGGTATAAGAATCAAGAGAGAAAAACCCAGCTGAGCCCCTGTATCTTACTAGCACTGGAGAACATGTTGTCAAACTCAATGATGAGATCATCCTCCCGGTCAAAGCGCTCAAATCGGACCAAGGGAGAAGCGTTCATATCAGGATAATCCTCATCCAATTCCATCTCAGAGCCATCGTCGTCATCGTCTTCATCTCCCTCTTCACCTTCATCATCCTCCTTAAGGGAAAATAGGAGATGGAGAATTGCTGGAGGTAAGGGTTTTCTGAAGCCTGGTGCCATGGCCACATGTGCACATGAGGGAGGGAGACGCTGAGGCTAGCAACCCAGACTGTTGGTTTTCTGCAGCTCTATGTTCCCATGGAAGAGGTCATCTGAACCAACCCAAACGCAGTCCCCCCTCACCTGATCATCTTCCTCATCTTCCTCCTCCTCCTCTTCATCCTGACTATCATCCTCATCCTCGTTACTGCCACTGCTGTCCTCTTCCTGAGTGTGCTCCTCCTCATCCTCAGGGTCCAGGATATTCATGGAATCTAAAACAAAGGGAGCACATTGGAGGACTAAACTGAGTAGCTAGAAAACAGGCTACTGTGCAGGCCAGCAGGCTGAGTGGGAAGGTGATGGGATATCTGACTCTATGAGAGGAAGAACCAGATCTGGGGTGATGTACAGACTTAGTGAGCCAGACCCGATTTCCTGAGAGTGCCAATCAATGCATCAACACACTGAGCAGGGTGGCTGAATGTGGAGGCTGGCTAGAGGGTGGTGCTTGAGGAGCCATGGTCTAGGACTTGGCCAAGTCTGCTGGTGCCCCCTTGCCTTTTCAGCCCTACTTTGCTATTGACTATATCCTGTTGGCAAGAGGGAACCTGGAGCGATGATAGCAGGTGGGTGAGAAGAAAGCGAACCAAGTAAGAAGTGACAAACTTTGGGCAAGCAGTAGTAACATGTTATTTGAAAAACTGGCTGAGGATAAAGTGGATGGTGTATGTCAGCGCATGCAGACAGATGCTTCCTTATTCTGCACATGTGGGCAGCTGCCTCCAGGAAAACCCTAGTGTAGTGTCTGTCAGACGTGCAGGGCAAGAAGGGAGGCCTTTCTGGCCTCGGCACTCTCACCTTCTCGGTTGGCCTGCAAGGTGGAAGCTTGGCTGAGGTTGGAAGGAGCTTCATCCATCAGCACGTCCTCTTGTGATTCATCCTCTCCACTTCTGCTCACTGAAGGTTACAGAGCAGAGCCTTCACTGAACAACAGAGGACTTCCCTTTCCAGACTGGGTGCGTCTAAAGTAGCTATGTACACCTAGCAGATATCCACTTTTTTTTGGATGAGGGAGAAGACCTGGATTGTCTGCTGTCAGCTAGCTAGGTGAGCTTGGCCAGTCACTTTACCTGTCTGAGTCTCAGTTTCCTCATCTGTAAAACAGGATGATCACATCTGCCCTGCCAATCCCACTAATTGTGAAACCACAGAGGATACTGGGTATAAAAAAGCTTTGTAAAACTTAAGAATACGTGTCTACTTCCATTTATCCTTTGATTTCCTTGATCAACAAAGTAAAAACAAGTAACACATACACCCTCAGAGCCAGGTGACAGTAGGGTACCTTTGCCATTTTCCCTCTGAGATTTATAAAGGGCCACCCTCAGGGAATGATCATTCTTTTTACACTACTGAGACTCAGGGGCAGAAAGCCCCTGGACTTCATTGAAGAACTGAAAGGCAGCGCTTTCTCACCCTACAGCCTCCTCTAGGCCTCCATGAATAAACACTCTTTTGATGTGCTTGATGTATCATCTGTATCAATGGCCACTCCCACCACCTCCCCCACACAGGCAACACTTTAGACTGCCACAGGCCTGTAGACGTCTTGTGAATTTCTCATCTGTAAGACCGTCAACATCAAGACAAGCAGCGATCTAGGCTGGCTATGAGCCCTTAGGCAGAGCTGAGCAAGCAGATGATGAGAAAAAGGGTCCTCCCAAGAGAGACTGAGGCAAAGGAAGAGGCTATACTCAGTTCTGGGGCTCTCACCTATAATTGTACTGTTCCCAGATCCGCCATCCCTCTCAAGCAACTCATCTATCAGGTCCTCCAGCTCATTCTCAACCTGGAGAGAAATAGAACATATATATGGATGCACACAAGTCTATCATTGTGCTAGCACCGAAACCCTAAAAAAGGCCAGCAAAGCAGCATACATTTCTAGGATAACATGTGACAGAGGATGTTACGTGAAACCACACATTCGGTGCTAATTAGCACAGAAACTACCACGTGCTACCAATCCACAACCAGACTATCCTTCAAATGGGTCCATCCCAGTTATCTGATACTGGGTTGTCTTTATACTGTCCAGGAAGACATAATAGATCTCTTTAAAGCCAGCAGCTTAGGACCACAGGCCCAATTTCTTACCCAATGCTACCAGCTCCAGAAATTACAATGCTTTCCTTTAGGGTCTTNNN
|
benign
| 334,820 |
Is chromosome X, position 53562129, gene HUWE1 variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
benign
|
AAGAACATTAAGTGATGGACTATTTCCCCCAAGGTTAAGACAATGCTAAAGCACAGTGAAAATTCTTACAAGAGCTCCGATGAATCCAACAGATCTCTGTAACTCACCTCTGCAGTATAAGAGGAGGGTTGGGCTGGCGATTCCCAGGGTAGTGAACATGAATGGTGTGGCCAGTATTGGCCGTCAGCTGCCTTAGGGTCCTCTGACTGCGCCCGATGCCCTGGGTGAGACGAGTTGTTGAAGAGCCACTGCCCAGTGTCAGAGAACTGTGGTCTGCATGGCGCACCATCAGTGGATGGGTGGTAGGGATATTTCCTGGGGATGGGGGGATGTCTGCTGCAAGGACAATATGTAAAAGGGTCAGTGTCAAAAAGAAATTTCTTCCATGTTTGTTCAAGCAGAATCATGTCTCCTGGGCCTTACTTCCTCACACGGAAACCTGAGCTTTGTCCTTTCTCCCTCATTCCCACAACTCATCTACAATCACTGACACTACCATAGCTTATGCCATCATCTCTCACTTAGATACTGCAACGGCCTCCTAAATAGTACCTTCTCCCAATCCATTTTCCACACTACAGTCACAGTGATGCTTCTAGGCCCCTCAGATACATGCTGCTCCCTTCACCTTGAAGACTCCTCTCCCGCTTCTTTACCTGCTCTTCTCTTCTTGGCCTAAGATGTCACTTTCTCTGTGAAGCCTGACTTCCACAGATTGGGTTAGGTAACTCTTTACCTCTGTGCTCTCTTACTATAGTGCAATGTAATGCCTGCTTAGTTATGATTCCTAATAAACCACTCCTATGAGGAACGAGGACTGTTTTCTTCTTTACTGCTGTATCCCTAGTACCTAGGATACAGTAGGCACTCCTCAAATATTGTTCAATTTGCTGAATGGACAGAGGCTCAACTCTAAGGGAAACTGATGAAAATCACAAAAATGCAAAATAATCATAGATGTTATCTTCAAAGTTATCTAATCCAACCCATTTTTTTCTCGAACTTTTCATTTACAGGTGACAAACTGAGGCTCAAAGAGGTAAGAGATTAATTGGCCAAGAAAACAGACCAGAACAGTTCAGTGTTTTCTGCTACATCATGCTTGTGATTTAAGTTGTCAAGACCTGCCCTATCAAGACAGCTTGATTCTAAGAACTCGATTCTAACTTGACGCTAAAAGGGAAGTTTCACGGTGATGGGGGAGGAAGAGATTCACTCGTTCTCCCGAAAAGACGCATCCTGGATGAATAGAGTGAGTATGTTCAAATCTGCTCCCCAAAGCCAAGCTCAAAGGTGACCATTCAAACCCTCAAGATCTTGTGTTATGGACATAAGGATTATTGATTGCCCTGCCACTGTGGTGTGCACATGGGTGCCTGATGCAGTCAGCCTTGGTCTCTTTCTTTTTTTTAATCAAGCAAATCATCAAGTTGTCCAGGCTCTAAAATGGCTGCCTATTTACTGAGGTGAAGGGAACAAAAGCAGCCTCTCACTATTCCTTCTCCTAAGTATACACTAATGAGACAGATGGATTCAGATATCCCTTGCCCCAGGAAGTCAGCATAGGAAAAGAAGTGCTGTCTGTATCGGATCGGTTTGGTCCACTGCTTGGCTTACCCTAGAGAAGGGTATAAGAATCAAGAGAGAAAAACCCAGCTGAGCCCCTGTATCTTACTAGCACTGGAGAACATGTTGTCAAACTCAATGATGAGATCATCCTCCCGGTCAAAGCGCTCAAATCGGACCAAGGGAGAAGCGTTCATATCAGGATAATCCTCATCCAATTCCATCTCAGAGCCATCGTCGTCATCGTCTTCATCTCCCTCTTCACCTTCATCATCCTCCTTAAGGGAAAATAGGAGATGGAGAATTGCTGGAGGTAAGGGTTTTCTGAAGCCTGGTGCCATGGCCACATGTGCACATGAGGGAGGGAGACGCTGAGGCTAGCAACCCAGACTGTTGGTTTTCTGCAGCTCTATGTTCCCATGGAAGAGGTCATCTGAACCAACCCAAACGCAGTCCCCCCTCACCTGATCATCTTCCTCATCTTCCTCCTCCTCCTCCTCTTCATCCTGACTATCATCCTCATCCTCGTTACTGCCACTGCTGTCCTCTTCCTGAGTGTGCTCCTCCTCATCCTCAGGGTCCAGGATATTCATGGAATCTAAAACAAAGGGAGCACATTGGAGGACTAAACTGAGTAGCTAGAAAACAGGCTACTGTGCAGGCCAGCAGGCTGAGTGGGAAGGTGATGGGATATCTGACTCTATGAGAGGAAGAACCAGATCTGGGGTGATGTACAGACTTAGTGAGCCAGACCCGATTTCCTGAGAGTGCCAATCAATGCATCAACACACTGAGCAGGGTGGCTGAATGTGGAGGCTGGCTAGAGGGTGGTGCTTGAGGAGCCATGGTCTAGGACTTGGCCAAGTCTGCTGGTGCCCCCTTGCCTTTTCAGCCCTACTTTGCTATTGACTATATCCTGTTGGCAAGAGGGAACCTGGAGCGATGATAGCAGGTGGGTGAGAAGAAAGCGAACCAAGTAAGAAGTGACAAACTTTGGGCAAGCAGTAGTAACATGTTATTTGAAAAACTGGCTGAGGATAAAGTGGATGGTGTATGTCAGCGCATGCAGACAGATGCTTCCTTATTCTGCACATGTGGGCAGCTGCCTCCAGGAAAACCCTAGTGTAGTGTCTGTCAGACGTGCAGGGCAAGAAGGGAGGCCTTTCTGGCCTCGGCACTCTCACCTTCTCGGTTGGCCTGCAAGGTGGAAGCTTGGCTGAGGTTGGAAGGAGCTTCATCCATCAGCACGTCCTCTTGTGATTCATCCTCTCCACTTCTGCTCACTGAAGGTTACAGAGCAGAGCCTTCACTGAACAACAGAGGACTTCCCTTTCCAGACTGGGTGCGTCTAAAGTAGCTATGTACACCTAGCAGATATCCACTTTTTTTTGGATGAGGGAGAAGACCTGGATTGTCTGCTGTCAGCTAGCTAGGTGAGCTTGGCCAGTCACTTTACCTGTCTGAGTCTCAGTTTCCTCATCTGTAAAACAGGATGATCACATCTGCCCTGCCAATCCCACTAATTGTGAAACCACAGAGGATACTGGGTATAAAAAAGCTTTGTAAAACTTAAGAATACGTGTCTACTTCCATTTATCCTTTGATTTCCTTGATCAACAAAGTAAAAACAAGTAACACATACACCCTCAGAGCCAGGTGACAGTAGGGTACCTTTGCCATTTTCCCTCTGAGATTTATAAAGGGCCACCCTCAGGGAATGATCATTCTTTTTACACTACTGAGACTCAGGGGCAGAAAGCCCCTGGACTTCATTGAAGAACTGAAAGGCAGCGCTTTCTCACCCTACAGCCTCCTCTAGGCCTCCATGAATAAACACTCTTTTGATGTGCTTGATGTATCATCTGTATCAATGGCCACTCCCACCACCTCCCCCACACAGGCAACACTTTAGACTGCCACAGGCCTGTAGACGTCTTGTGAATTTCTCATCTGTAAGACCGTCAACATCAAGACAAGCAGCGATCTAGGCTGGCTATGAGCCCTTAGGCAGAGCTGAGCAAGCAGATGATGAGAAAAAGGGTCCTCCCAAGAGAGACTGAGGCAAAGGAAGAGGCTATACTCAGTTCTGGGGCTCTCACCTATAATTGTACTGTTCCCAGATCCGCCATCCCTCTCAAGCAACTCATCTATCAGGTCCTCCAGCTCATTCTCAACCTGGAGAGAAATAGAACATATATATGGATGCACACAAGTCTATCATTGTGCTAGCACCGAAACCCTAAAAAAGGCCAGCAAAGCAGCATACATTTCTAGGATAACATGTGACAGAGGATGTTACGTGAAACCACACATTCGGTGCTAATTAGCACAGAAACTACCACGTGCTACCAATCCACAACCAGACTATCCTTCAAATGGGTCCATCCCAGTTATCTGATACTGGGTTGTCTTTATACTGTCCAGGAAGACATAATAGATCTCTTTAAAGCCAGCAGCTTAGGACCACAGGCCCAATTTCTTACCCAATGCTACCAGCTCCAGAAATTACAATGCTTTCCTTTAGGGTCTT
|
AAGAACATTAAGTGATGGACTATTTCCCCCAAGGTTAAGACAATGCTAAAGCACAGTGAAAATTCTTACAAGAGCTCCGATGAATCCAACAGATCTCTGTAACTCACCTCTGCAGTATAAGAGGAGGGTTGGGCTGGCGATTCCCAGGGTAGTGAACATGAATGGTGTGGCCAGTATTGGCCGTCAGCTGCCTTAGGGTCCTCTGACTGCGCCCGATGCCCTGGGTGAGACGAGTTGTTGAAGAGCCACTGCCCAGTGTCAGAGAACTGTGGTCTGCATGGCGCACCATCAGTGGATGGGTGGTAGGGATATTTCCTGGGGATGGGGGGATGTCTGCTGCAAGGACAATATGTAAAAGGGTCAGTGTCAAAAAGAAATTTCTTCCATGTTTGTTCAAGCAGAATCATGTCTCCTGGGCCTTACTTCCTCACACGGAAACCTGAGCTTTGTCCTTTCTCCCTCATTCCCACAACTCATCTACAATCACTGACACTACCATAGCTTATGCCATCATCTCTCACTTAGATACTGCAACGGCCTCCTAAATAGTACCTTCTCCCAATCCATTTTCCACACTACAGTCACAGTGATGCTTCTAGGCCCCTCAGATACATGCTGCTCCCTTCACCTTGAAGACTCCTCTCCCGCTTCTTTACCTGCTCTTCTCTTCTTGGCCTAAGATGTCACTTTCTCTGTGAAGCCTGACTTCCACAGATTGGGTTAGGTAACTCTTTACCTCTGTGCTCTCTTACTATAGTGCAATGTAATGCCTGCTTAGTTATGATTCCTAATAAACCACTCCTATGAGGAACGAGGACTGTTTTCTTCTTTACTGCTGTATCCCTAGTACCTAGGATACAGTAGGCACTCCTCAAATATTGTTCAATTTGCTGAATGGACAGAGGCTCAACTCTAAGGGAAACTGATGAAAATCACAAAAATGCAAAATAATCATAGATGTTATCTTCAAAGTTATCTAATCCAACCCATTTTTTTCTCGAACTTTTCATTTACAGGTGACAAACTGAGGCTCAAAGAGGTAAGAGATTAATTGGCCAAGAAAACAGACCAGAACAGTTCAGTGTTTTCTGCTACATCATGCTTGTGATTTAAGTTGTCAAGACCTGCCCTATCAAGACAGCTTGATTCTAAGAACTCGATTCTAACTTGACGCTAAAAGGGAAGTTTCACGGTGATGGGGGAGGAAGAGATTCACTCGTTCTCCCGAAAAGACGCATCCTGGATGAATAGAGTGAGTATGTTCAAATCTGCTCCCCAAAGCCAAGCTCAAAGGTGACCATTCAAACCCTCAAGATCTTGTGTTATGGACATAAGGATTATTGATTGCCCTGCCACTGTGGTGTGCACATGGGTGCCTGATGCAGTCAGCCTTGGTCTCTTTCTTTTTTTTAATCAAGCAAATCATCAAGTTGTCCAGGCTCTAAAATGGCTGCCTATTTACTGAGGTGAAGGGAACAAAAGCAGCCTCTCACTATTCCTTCTCCTAAGTATACACTAATGAGACAGATGGATTCAGATATCCCTTGCCCCAGGAAGTCAGCATAGGAAAAGAAGTGCTGTCTGTATCGGATCGGTTTGGTCCACTGCTTGGCTTACCCTAGAGAAGGGTATAAGAATCAAGAGAGAAAAACCCAGCTGAGCCCCTGTATCTTACTAGCACTGGAGAACATGTTGTCAAACTCAATGATGAGATCATCCTCCCGGTCAAAGCGCTCAAATCGGACCAAGGGAGAAGCGTTCATATCAGGATAATCCTCATCCAATTCCATCTCAGAGCCATCGTCGTCATCGTCTTCATCTCCCTCTTCACCTTCATCATCCTCCTTAAGGGAAAATAGGAGATGGAGAATTGCTGGAGGTAAGGGTTTTCTGAAGCCTGGTGCCATGGCCACATGTGCACATGAGGGAGGGAGACGCTGAGGCTAGCAACCCAGACTGTTGGTTTTCTGCAGCTCTATGTTCCCATGGAAGAGGTCATCTGAACCAACCCAAACGCAGTCCCCCCTCACCTGATCATCTTCCTCATCTTCCTCCTCCTCTTCATCCTGACTATCATCCTCATCCTCGTTACTGCCACTGCTGTCCTCTTCCTGAGTGTGCTCCTCCTCATCCTCAGGGTCCAGGATATTCATGGAATCTAAAACAAAGGGAGCACATTGGAGGACTAAACTGAGTAGCTAGAAAACAGGCTACTGTGCAGGCCAGCAGGCTGAGTGGGAAGGTGATGGGATATCTGACTCTATGAGAGGAAGAACCAGATCTGGGGTGATGTACAGACTTAGTGAGCCAGACCCGATTTCCTGAGAGTGCCAATCAATGCATCAACACACTGAGCAGGGTGGCTGAATGTGGAGGCTGGCTAGAGGGTGGTGCTTGAGGAGCCATGGTCTAGGACTTGGCCAAGTCTGCTGGTGCCCCCTTGCCTTTTCAGCCCTACTTTGCTATTGACTATATCCTGTTGGCAAGAGGGAACCTGGAGCGATGATAGCAGGTGGGTGAGAAGAAAGCGAACCAAGTAAGAAGTGACAAACTTTGGGCAAGCAGTAGTAACATGTTATTTGAAAAACTGGCTGAGGATAAAGTGGATGGTGTATGTCAGCGCATGCAGACAGATGCTTCCTTATTCTGCACATGTGGGCAGCTGCCTCCAGGAAAACCCTAGTGTAGTGTCTGTCAGACGTGCAGGGCAAGAAGGGAGGCCTTTCTGGCCTCGGCACTCTCACCTTCTCGGTTGGCCTGCAAGGTGGAAGCTTGGCTGAGGTTGGAAGGAGCTTCATCCATCAGCACGTCCTCTTGTGATTCATCCTCTCCACTTCTGCTCACTGAAGGTTACAGAGCAGAGCCTTCACTGAACAACAGAGGACTTCCCTTTCCAGACTGGGTGCGTCTAAAGTAGCTATGTACACCTAGCAGATATCCACTTTTTTTTGGATGAGGGAGAAGACCTGGATTGTCTGCTGTCAGCTAGCTAGGTGAGCTTGGCCAGTCACTTTACCTGTCTGAGTCTCAGTTTCCTCATCTGTAAAACAGGATGATCACATCTGCCCTGCCAATCCCACTAATTGTGAAACCACAGAGGATACTGGGTATAAAAAAGCTTTGTAAAACTTAAGAATACGTGTCTACTTCCATTTATCCTTTGATTTCCTTGATCAACAAAGTAAAAACAAGTAACACATACACCCTCAGAGCCAGGTGACAGTAGGGTACCTTTGCCATTTTCCCTCTGAGATTTATAAAGGGCCACCCTCAGGGAATGATCATTCTTTTTACACTACTGAGACTCAGGGGCAGAAAGCCCCTGGACTTCATTGAAGAACTGAAAGGCAGCGCTTTCTCACCCTACAGCCTCCTCTAGGCCTCCATGAATAAACACTCTTTTGATGTGCTTGATGTATCATCTGTATCAATGGCCACTCCCACCACCTCCCCCACACAGGCAACACTTTAGACTGCCACAGGCCTGTAGACGTCTTGTGAATTTCTCATCTGTAAGACCGTCAACATCAAGACAAGCAGCGATCTAGGCTGGCTATGAGCCCTTAGGCAGAGCTGAGCAAGCAGATGATGAGAAAAAGGGTCCTCCCAAGAGAGACTGAGGCAAAGGAAGAGGCTATACTCAGTTCTGGGGCTCTCACCTATAATTGTACTGTTCCCAGATCCGCCATCCCTCTCAAGCAACTCATCTATCAGGTCCTCCAGCTCATTCTCAACCTGGAGAGAAATAGAACATATATATGGATGCACACAAGTCTATCATTGTGCTAGCACCGAAACCCTAAAAAAGGCCAGCAAAGCAGCATACATTTCTAGGATAACATGTGACAGAGGATGTTACGTGAAACCACACATTCGGTGCTAATTAGCACAGAAACTACCACGTGCTACCAATCCACAACCAGACTATCCTTCAAATGGGTCCATCCCAGTTATCTGATACTGGGTTGTCTTTATACTGTCCAGGAAGACATAATAGATCTCTTTAAAGCCAGCAGCTTAGGACCACAGGCCCAATTTCTTACCCAATGCTACCAGCTCCAGAAATTACAATGCTTTCCTTTAGGGTCTTNNNNNN
|
benign
| 334,821 |
Considering the variant on chromosome X, location 53591123, involving gene HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
benign
|
AATCGAAATGTTAACTGGCTATCTGGGTGTGGGGATTTAAGGTAATTCCTTTCTTATCCCACTTCTATAATTAGCATAATTTCATAATGAGAGAAAAGAAAAAGAGGACAAATATCAGGTCACAAGTATTCATCAGGATGGGGACTCAGTTGTTCAAGCGGCTGTTACATAGGAAAAAACATTTATTCAGTATTAGTCCAGGGGACGAACCTGACTCAAGGGTGAGGCACATTTTAGACATTTTAAGAGAAAAGTAGAAAAGGAGAGCTTTGTTTTTCCCTTCTAAAGACATTTTTGTGTGTGCGATGTAGTTAACACACTGTTTCAGGATTACCAGATCGAAAGAATCCAAATAGAGAATATACCCATATCAGGTAGAATGAAAATATGCTGATTTTTCAGAAATCAGGTTTTGACACAGGCAGGCAAACCACTTCACATACTCCCCTCTTCTGACCCCTTGAGAGCTCACCTGATTGACTACTTGCTTCAGAATCATGTCACGATAATCTGCTCCATTACGTTTGATTGCTGTCATGATCAGGTCACACACACGGTATACTGTGTCTGGCAGCTCATCAAGAAGGTGGAAGCAGCCTGGCAACATAGTATCTGTGAAAGTGTGGAGCTCATCTTGTTCCAACGGGTCAGCATCCTGGAACTTCTCTAGACATTTAGCCTCTTCCTCCTCCTGCTTTTCCCGAGCTTTCCGTTCCTCTTCCTCCTTCCGGCAAGCAACTTCCTGGAAGCAGGGAAGGAAGTGTGAATAATACACAGGAGAGGTGAAGGAGGAAAGATAAGAGAGACTCTGAGAATGTTTTTGCTCTACCATATGATTACCCTCAACCTTCTCCTCAAGCGGTTGATACTTTCATCCAGGATGTGGCAGCCACAAAGTTTAAGGCAAGACAGGGAAGGTAGAAGGGAGGGATGCTTCAAACAACTTTCACTGTCAAGTCACTTGTAGCATTCTATACTACCTCCCGCAAAATCATTTCTAGACACTGTTCTATATTCTGTGCCAGCAGGGAAAATTAAAGTAACTGTCACCTAGAAATATACAGCCAAGTTCGGCCTAATGGCACTACTGAGTACACATTGGGTCTCTTATTTGACAATAAAGATTAACGCTTCATATGCCTCCCTTAAAGCTTCAGGTCAATACAAGGTAGCTCAATAATGGATGGCAAAGCTGGGATGAATTAGTACTCTTCTCATGTCTTCCTTTAGATTTGAATTCTATCAATTAGTTTGCAATACTAGCAGAATGTTCACAGAATACTAAGATTCATGTGCCAAGCCCTTTAGGATGCAGTGTTCCATAGTTACCTCAGGTGACTCTGCCCTTTGATCCATTGGAATATCCTGTCCCAGAGACATAGCAATTGCTCTCATCATCTGGTCCTCTTCAGACATGCTGAGATCCTAGAGTGTTAAGAGAATATCCAGTAAGGATACACACTCAAAACAAAGAAACCCAACAAGACCACTGCAACTCACAGGCAATCAGACATCTTGTGCTCAAGCTAAAGAGAGAGGAAGGGCCTCAAAATGCTGCTCTTGTATAAGTCAAACCCTATCAGGCTTATGTGGTTACTACAAACAAGAACAGATGAGGAAAATCACACGTAAAACTAAGTATAGGAAGGAGGCTTACAGTGTGATCATCTATTCTACATCTTAGAAAAGTGTGCCTCTTCTATTGTTTTGTGACTGGGGGTTCTTGTGCAAACAAAGTATAGTAATTTGTATTGCTGGGGGACAGAAAACTTCTGTTATTATGAAAAGAAAATACTGGCATGGACATGTCTGAAAATGAGAAGCAGTTTATAGAAAGGAAGACCAATGACAGAATAATAAGGGGAAAAAGGACTTCAGCAGTCAAACCAATATCCTGGAAAATCACTGCTTCTGAGCCAACTTACCCGAACAACTCCTCCCATGATTGGAGGAGGGTGGGTTAAAAGGTACTCTGTGGCCTGCTCCATGGTGCTGGTGTTCAACAGTGCCTCCATTGCATGTTCCCTTGTGAAGCCCATGTCCATGAGCTACATAAAGAATGCAAGGGCTCAGAATCACATAACGGAAATCCAAATACATTTTTAAAAGGAAGGAACCTTTTCAAGATGGAAATAACTTTTTCTAACTTCATCTGGGCTGAGAGCATTTATGAGCTAGGGCAATTAGGTAAAATGAACAATCCTTTCTGTTTGGTGCTTCTATAGCATTCTAAGCTACACATTGGGTAAGGAGCCAAGAAGATTCTCGATTTCATCCTCTAAGAAAGTTAGGGGGGGATGCATGGTTATTATGATTAACAGGGTTATTATAATTAAAAGATTGAGACTCATACAAAGAAGTATAAATTGGTCCCAACTTTCTGGAAAACAAACTGGTAACAGAGCAAGTGCCTGAAAAACTGACCTAGTTAATCTACTACCAGGCAATAATCATGAGATGTATGTAAGGATTGGTACGTAAGGAAACTATACAACACAGTGTTAAAACATCAAACTGTAAGAAAATTAGCATCCAACAATAAAAGAATGACCAATTAGTAAAAAAAAGTTCTTGATAACAGCAATACAAGTATATGTATTATTTGATGTTAACGACGTAAAAATTAGGCACAAGACTGACTGAAAAAGGAGACAATGACTATCTTGTGTGATAAAATTACGAATGCCTTTTAAAAGTCTTGTATTTTCCAAATTTGGTAATGAGAGTATTTATTACTTTAATGATAAAAAACGGGACAAGTGTATATAGTAGACAGATTTGAACAGGACTCCAGACATAAAAGCTGACACACATACATACAAACTCCAGGAAGAAAATCTTAAAATGCTCTTTGAGATGGAAGTGGCAGGACTTTACATGCCTTTCCCCTCTCCTCTTTCTGGCCTCCCAATTTTTAAAATGCCCCTTATACATTTTATTTGCAAGTGAAAACAAAAGTTTTGTAGGTGACTAAGGTTTCAGAAAGCTCTTGTTGGAGAATAAATCTGGTTCACAATATCCATTCTCTTTACAGGTTAACCAGAAAGTAACTGAGGACAGTTTGCCTCCACTGAGGCAGCAGGAGGCTACTGAGAATACTCATCAACATGCTTGAAAGGAGTATTACCTGTGCAGAGCATCAGGACTATACTCCAGTTTTCCTCAGGAGAAAAAAAATAAATACTAAGAGAAGGAGGAAATCTAAACTGTCTCCTGGTTAATGTGACCAGGGACTCAGTGGTATGTGAGCTTAGAAAATCCGTAAGCATCACACTCCATTGGGTGCAAAGTCTGGACCCTGGAGTGTGAGGCCAGTACCCTACCTGTTGCAGTTGTTGCTGGTTGACTTGAGGTTCCCGGCGGGAGCCACCTTCCTCTTGCCCTGTATCCTCTTCTCCTCGAGACCCCTCCTTCTCCTTGCTTAGTCTCTCTCGAATCACAGGTTCTCCTCGGAGGATGTGGCATAGAATGGCCAGCATCGATTCAGCCATTCGTCCACCATATACCTTCAGGGGTTTCCGGTTCCATAAGTTTTTGATGCAAGTAAAGGCTGCCTGTAAGTAATTTGAAAAGTGTGTGAAAATCATTTTGCTTCAATTCAAAGCTCAGAAGGATTAAGTTAAAGACCTATGGAACAGTCCTTCCACAACTAGTACCAGCAACAAAATAATTGGCCAACATGAGGAGGTCTAAGGAGGCACAGAGAAGAGGCATTTTACTCAACCTTAAGCAGTGATACAGTTTGGAATATTTGCTCTGCCCAAATCTCATGCTGAATTGTAATCCCCAATGCTGGAGGTGTTTGGGTCATGGGGGTGGATCCCTCATTGTTTAGTGTTGTCTTCATGATAGTGAGTTAGTGTGTACCACCCCCTCCACCTCCTGGCTCCTGCCATGTGACATGCAAGCTCCCACTTAACCTTCCGCCATGACTGTGAACTTCCTGAGGCCTCCCTAGAAGCCCAGCAGATGCTAGCACCATGCTTCCAAAGCTTGCAGAACTGTGGGCCACTTAAATATCTTTTCTTTATAAATTACCCAGTCTCAGGTATTTCTTTATAGCAATGCAAGAACGGCCTAATGCAAGTACCAATCT
|
AATCGAAATGTTAACTGGCTATCTGGGTGTGGGGATTTAAGGTAATTCCTTTCTTATCCCACTTCTATAATTAGCATAATTTCATAATGAGAGAAAAGAAAAAGAGGACAAATATCAGGTCACAAGTATTCATCAGGATGGGGACTCAGTTGTTCAAGCGGCTGTTACATAGGAAAAAACATTTATTCAGTATTAGTCCAGGGGACGAACCTGACTCAAGGGTGAGGCACATTTTAGACATTTTAAGAGAAAAGTAGAAAAGGAGAGCTTTGTTTTTCCCTTCTAAAGACATTTTTGTGTGTGCGATGTAGTTAACACACTGTTTCAGGATTACCAGATCGAAAGAATCCAAATAGAGAATATACCCATATCAGGTAGAATGAAAATATGCTGATTTTTCAGAAATCAGGTTTTGACACAGGCAGGCAAACCACTTCACATACTCCCCTCTTCTGACCCCTTGAGAGCTCACCTGATTGACTACTTGCTTCAGAATCATGTCACGATAATCTGCTCCATTACGTTTGATTGCTGTCATGATCAGGTCACACACACGGTATACTGTGTCTGGCAGCTCATCAAGAAGGTGGAAGCAGCCTGGCAACATAGTATCTGTGAAAGTGTGGAGCTCATCTTGTTCCAACGGGTCAGCATCCTGGAACTTCTCTAGACATTTAGCCTCTTCCTCCTCCTGCTTTTCCCGAGCTTTCCGTTCCTCTTCCTCCTTCCGGCAAGCAACTTCCTGGAAGCAGGGAAGGAAGTGTGAATAATACACAGGAGAGGTGAAGGAGGAAAGATAAGAGAGACTCTGAGAATGTTTTTGCTCTACCATATGATTACCCTCAACCTTCTCCTCAAGCGGTTGATACTTTCATCCAGGATGTGGCAGCCACAAAGTTTAAGGCAAGACAGGGAAGGTAGAAGGGAGGGATGCTTCAAACAACTTTCACTGTCAAGTCACTTGTAGCATTCTATACTACCTCCCGCAAAATCATTTCTAGACACTGTTCTATATTCTGTGCCAGCAGGGAAAATTAAAGTAACTGTCACCTAGAAATATACAGCCAAGTTCGGCCTAATGGCACTACTGAGTACACATTGGGTCTCTTATTTGACAATAAAGATTAACGCTTCATATGCCTCCCTTAAAGCTTCAGGTCAATACAAGGTAGCTCAATAATGGATGGCAAAGCTGGGATGAATTAGTACTCTTCTCATGTCTTCCTTTAGATTTGAATTCTATCAATTAGTTTGCAATACTAGCAGAATGTTCACAGAATACTAAGATTCATGTGCCAAGCCCTTTAGGATGCAGTGTTCCATAGTTACCTCAGGTGACTCTGCCCTTTGATCCATTGGAATATCCTGTCCCAGAGACATAGCAATTGCTCTCATCATCTGGTCCTCTTCAGACATGCTGAGATCCTAGAGTGTTAAGAGAATATCCAGTAAGGATACACACTCAAAACAAAGAAACCCAACAAGACCACTGCAACTCACAGGCAATCAGACATCTTGTGCTCAAGCTAAAGAGAGAGGAAGGGCCTCAAAATGCTGCTCTTGTATAAGTCAAACCCTATCAGGCTTATGTGGTTACTACAAACAAGAACAGATGAGGAAAATCACACGTAAAACTAAGTATAGGAAGGAGGCTTACAGTGTGATCATCTATTCTACATCTTAGAAAAGTGTGCCTCTTCTATTGTTTTGTGACTGGGGGTTCTTGTGCAAACAAAGTATAGTAATTTGTATTGCTGGGGGACAGAAAACTTCTGTTATTATGAAAAGAAAATACTGGCATGGACATGTCTGAAAATGAGAAGCAGTTTATAGAAAGGAAGACCAATGACAGAATAATAAGGGGAAAAAGGACTTCAGCAGTCAAACCAATATCCTGGAAAATCACTGCTTCTGAGCCAACTTACCCGAACAACTCCTCCCATGATTGGAGGAGGGTGGGTTAAAAGGTACTCTGTGGCCTGCTCCATGGTGCTGGTGTTCAACAGTGCCTCCATTGCATGTTCCCTTGTGAAGCCCATGTCCATGAGCTAAAGAATGCAAGGGCTCAGAATCACATAACGGAAATCCAAATACATTTTTAAAAGGAAGGAACCTTTTCAAGATGGAAATAACTTTTTCTAACTTCATCTGGGCTGAGAGCATTTATGAGCTAGGGCAATTAGGTAAAATGAACAATCCTTTCTGTTTGGTGCTTCTATAGCATTCTAAGCTACACATTGGGTAAGGAGCCAAGAAGATTCTCGATTTCATCCTCTAAGAAAGTTAGGGGGGGATGCATGGTTATTATGATTAACAGGGTTATTATAATTAAAAGATTGAGACTCATACAAAGAAGTATAAATTGGTCCCAACTTTCTGGAAAACAAACTGGTAACAGAGCAAGTGCCTGAAAAACTGACCTAGTTAATCTACTACCAGGCAATAATCATGAGATGTATGTAAGGATTGGTACGTAAGGAAACTATACAACACAGTGTTAAAACATCAAACTGTAAGAAAATTAGCATCCAACAATAAAAGAATGACCAATTAGTAAAAAAAAGTTCTTGATAACAGCAATACAAGTATATGTATTATTTGATGTTAACGACGTAAAAATTAGGCACAAGACTGACTGAAAAAGGAGACAATGACTATCTTGTGTGATAAAATTACGAATGCCTTTTAAAAGTCTTGTATTTTCCAAATTTGGTAATGAGAGTATTTATTACTTTAATGATAAAAAACGGGACAAGTGTATATAGTAGACAGATTTGAACAGGACTCCAGACATAAAAGCTGACACACATACATACAAACTCCAGGAAGAAAATCTTAAAATGCTCTTTGAGATGGAAGTGGCAGGACTTTACATGCCTTTCCCCTCTCCTCTTTCTGGCCTCCCAATTTTTAAAATGCCCCTTATACATTTTATTTGCAAGTGAAAACAAAAGTTTTGTAGGTGACTAAGGTTTCAGAAAGCTCTTGTTGGAGAATAAATCTGGTTCACAATATCCATTCTCTTTACAGGTTAACCAGAAAGTAACTGAGGACAGTTTGCCTCCACTGAGGCAGCAGGAGGCTACTGAGAATACTCATCAACATGCTTGAAAGGAGTATTACCTGTGCAGAGCATCAGGACTATACTCCAGTTTTCCTCAGGAGAAAAAAAATAAATACTAAGAGAAGGAGGAAATCTAAACTGTCTCCTGGTTAATGTGACCAGGGACTCAGTGGTATGTGAGCTTAGAAAATCCGTAAGCATCACACTCCATTGGGTGCAAAGTCTGGACCCTGGAGTGTGAGGCCAGTACCCTACCTGTTGCAGTTGTTGCTGGTTGACTTGAGGTTCCCGGCGGGAGCCACCTTCCTCTTGCCCTGTATCCTCTTCTCCTCGAGACCCCTCCTTCTCCTTGCTTAGTCTCTCTCGAATCACAGGTTCTCCTCGGAGGATGTGGCATAGAATGGCCAGCATCGATTCAGCCATTCGTCCACCATATACCTTCAGGGGTTTCCGGTTCCATAAGTTTTTGATGCAAGTAAAGGCTGCCTGTAAGTAATTTGAAAAGTGTGTGAAAATCATTTTGCTTCAATTCAAAGCTCAGAAGGATTAAGTTAAAGACCTATGGAACAGTCCTTCCACAACTAGTACCAGCAACAAAATAATTGGCCAACATGAGGAGGTCTAAGGAGGCACAGAGAAGAGGCATTTTACTCAACCTTAAGCAGTGATACAGTTTGGAATATTTGCTCTGCCCAAATCTCATGCTGAATTGTAATCCCCAATGCTGGAGGTGTTTGGGTCATGGGGGTGGATCCCTCATTGTTTAGTGTTGTCTTCATGATAGTGAGTTAGTGTGTACCACCCCCTCCACCTCCTGGCTCCTGCCATGTGACATGCAAGCTCCCACTTAACCTTCCGCCATGACTGTGAACTTCCTGAGGCCTCCCTAGAAGCCCAGCAGATGCTAGCACCATGCTTCCAAAGCTTGCAGAACTGTGGGCCACTTAAATATCTTTTCTTTATAAATTACCCAGTCTCAGGTATTTCTTTATAGCAATGCAAGAACGGCCTAATGCAAGTACCAATCTNNNN
|
benign
| 334,861 |
Considering the variant on chromosome X, location 53631489, involving gene HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
benign
|
AAAAAGTCTCAAATCCAAAATACTTCTGGTCCCAAGTGTTACAGCTAAGGGTTACTCAACCTGTAAAATACTTACCATAAGCTGCTTATCCGTTATCTGAAGGACATCTACCAACTCCTCTATCAAGCCATTATACAAGATACTGTTTGCTGATTCCTGCAAGGCATTGGAATACACTGCAAAAGGAGAAACAAACACTTTAGGCAAGAAGGCAGTGGTCAAGCCACTGCCCAATAACAAACTTTTTGGTATCTATAGGTTCTGGGGAAGAATTCCATTCCCAACCAGCAATGGAGGGCAGAATCATCACCAAATTAAATTCTGAAGGACTGGATCAAATACAACTGATAATCTCTAAACAGACACTGAATTGACAGATTCCACTACTAAAGGTATTATTAGTCTTGAGAAAGAATTTTGGGGATGGAAATAGGAAAAGCTCTGAGTTAATTTTTCATAACATTACTACTTGATGTAACTCCACTATGCCTTCAATATAAGATTTCCATTTTAGCCTCTTCCTATGCTTCTGCTTTTACTGTAAACACTTGTAAAGAACAGAATTTATGGACCATTGCAGAGTAAGTCAGAAATTTGTGTGACACTGTAGTAAAACTTCAGAATGTGTGTAATTCACATTCAATGAATTCCACGATGAGGTTAATACCGGACACAGTACCCTGAAGCATAAACTAATGGGATTTAGGCATATTCATTTAGTTTTCAACAAAGATTTCCTGAGCACCCACTAACATGCCAGAAATCATGCTAGATATGAGTACACATAAAAGAGCAAGAATTTCACGCCAAGAAACTCATAGTTTAAGAGAAGGCAAGTCATAACATAATGAACATCAATAATAACAGCAATGGTTACCATTTTATATCTTCTATGTGCTTGTTCTGTGCTAGATTGCTTTCTAGGTTTTCATTTAATCTTTAGACCAGCCTCTACGGTGAGTACCTCAATATTAAACGAATAAGCTGAGGCTGAGAGGATAAGTGTGGCTAATAATCTACAGAATCAGGGACAGAGTACAGGACTGATTACAAAACCACGTGTTTTCCATTTTACTGTGCCACAGTAAAAGAAGTTAAATGCACAGTATTGACTACTGAATATTTTGTGACTTAATTCAAGATGATATCCCTGAAAGGATGAGAGAGGAGGAAGACACAATGGCAAGAGAAAGAGTAGGGGGACAGTGAACGATAGCTACAAGCATATCTATTAAAAAAAAAAAAAAGAGACGAATACCAAGAATAAACCCAGGTGACATGTCAATCAACATCATCATACCCTCTTTCTCGTCCAACATTAAGGAGCTCAAGGATAATGAATAAATACAGTGAACACTGGGAGGGGTGGAAGTATTTAAGTTGCTACCTAGGTAACTATAATAGGACTCATAGCAACAAAGATGAATGAAGTTCAAAGGAAATCAGGCCCAAACTGTCTAATACGGCCTGGTAATTAAAGTATTCTTCTCTTACCTAATATAGATATTGCATGCAGTCTGGCCTGAACTGCCTGCAATCGCTTCCTGTGATTAGAAAAGCCATGGGCCAGTCGTATGTGTGTAAATAACAGCATCTGTAGAGAGATAAGACATACATTTTAAAAACATCAATGAAAAAGGTGAATATTCTTTATGAGGGCTAACTCAAAAAACAACACAACTAAACGTTTTCTCCTTTGATATCCGAAGTGTTCAGAAAGCTACCACCACTTATTACCTGCTCACGGTGAGGTAGTTTATGTTTTCCTCAAACTCTCATAAGGCCTAGGAAGTTATTAAGTGTTAACCTCATAAAAGACAAGGAAACTAAGGCTCAGAGAAGCTAACAATTTGCCCATGGTCTGACTCCAAAGCTGACATTCTTTCTGCTATGCAATCTCCCACCCCAGTACATATCATTAATCTATTTAGATAACAACCACATCCTGTGGATGTTTTAAAGCCACATCATACCTGCTTATCCTTAGGAATGCTGTACATTTTGGTAAGAGATTCCATGATTTCAGAAGGGCTTTCTGAAATCTACATTAAAAAAAAAGATATAGTTAGGAACAAAAAGTGAACCAAACATTAAGAAACGAGCCAAGAGTCAAAGATTCCTCTTACCTTGTCAAGTTGCTCTATGTGAATATAATGTAGTGTGTTACTAGTTGTCTAAAATTAAAAAAGACAAGAGAGCTGTAAGGAGTCACTGAACACTCTAGCTTCCCCTTCCATAGAGCTCCAAAGGGCTGTCTGAAAACCAAGATGTCACCTAATAGGCTGAAGCCTAAGTGAATGCTCTTAAAATCAAGGTAAATTGAGAATCTTCCAAAACATCCATCTTATATGTAGAATATTCTTAGGAAAGCTCCTTTAAAACCAGTAGTATCAAACTATAATGCACATAGCCAGGCACATTTCATATTCTTCTTTGTCCTTTTTTAACCCTCCACTGACTTAATATCCATAGCAGTATTAATAGCAAAGACCAAATTCATGAAAATATTTTCTCTCTGAATATGTATTAGAGTTGCTTTCAAGGCAATTAAGCTAGAAAGATTATTTATTTATTGAATAGTATAGGTAGAAGAGAAATTGTATTTTCACTAAGCTACTTCTAAACCAAACTCTTTAGTACCTCCTCAAACAATACAAAATGACCAGATAATTTAAGCAGGACACTATCCACAATACATAAAGACTTTTGCAGGCTTCCTAATTAGAGAAACCTGAGCCATCACCATCCAAACTACTATACTACATGTTGGAATTCTCAGAGACTGTGGGAAAAGCACATAGGTCATAGCAGTGCCTCATAATGGATGGGACTTGCATCTTTTGGCAGCTCCCAACATAAGACCCAACCCTATCAGAGTTGGGGATGCAATTAACACTCCTGAGGAGCTGCTAGGTATATTTATAGTTTGCGAGGGCAGCAGTGTAGCTCAAAACCATTTATTCATTTAACTGAGGAGTTCTAGAAGAGGCAATCCCAGTTACAGTAAATTGTAGACTTTGTCAGAACAAATCTGAATCAGACTCACCCTTTTCTCAATTTTGACCTCGGCCCCAGGATCTGCATAGAATTCAAAGTGTAGTGTAGTTGCACTGGGTGGATATTTCTGTGTATAAAGCACATCAAAGAATCAGACATTGAGTTTCAACTGATTATAAACATTATCCCCCACATCTTCCCTCAAAGTCCTAGCCACTTGTTCAACTTATTGTGGCAGAAGAATAAGCAGTACATTCAGTACCTACAGTGCCTTTAACTGTTTGTCTTAGAGCAGAGCTCAGATAGGATGAGACTTTTCAAACAGAATCAAAAGGACAGAGCCCAGAGCTCCCAAACCTTCTGCATTTCATACTTATAAATTTCCAGTTTCCCTTTAAGAGATCAATTTTGACTGTGGCTATTCCCAAGGGGGAAAAGAGGGGCAAGACTGCCAAGCAGTAATGAATAAGAATCCAAGAAAGGATGGAGAACAAATACCAGGGCCCAGAAACCAGCTAAAGAATGGAAAAGAACATTCCTACGAAAAACCTTGTACCTATCATCAGCCTTCTGAAATATTTAATTCAAAGTATGCCTCATAGGCATATCTTCATAATTCTTCAAACACTTTCCTTCTATACCATTCTACACCACTTCTCATGGTATGTTTTCTGCACAGGTAGATACCAAGACAACATAAACCAGACCCTGACAAAACATTCTCTTTAACTCTAGAAAAGCAACATGATGAACAAAATTAAGATGACAGCAGAATGCCCACTAAAATGTCTCACTGAAAGACACCACTTGCAGTGGTTGCCTCTGGAAAATTAAGAAGTTACCACTGCATACCTCTTTATACTCTGAATTTTTTAACATGTATATGTATTACTTCCTTTTAAAGTACACGTTAACCTTTATGTTGTCATAATTAGAATTCCAAACTCTGAATATACTTCAAGATTTATGTAGTTTTGATTATTAAACAGACAACACTCACCTACTGTATCACCCAATATCTCTTCATAAAATAATCACTAAAGAAAAGTATGCCAGCTAACGTGGGAAAGTAACTTGATCTAATCTGTGGTTTTCTGAG
|
AAAAAGTCTCAAATCCAAAATACTTCTGGTCCCAAGTGTTACAGCTAAGGGTTACTCAACCTGTAAAATACTTACCATAAGCTGCTTATCCGTTATCTGAAGGACATCTACCAACTCCTCTATCAAGCCATTATACAAGATACTGTTTGCTGATTCCTGCAAGGCATTGGAATACACTGCAAAAGGAGAAACAAACACTTTAGGCAAGAAGGCAGTGGTCAAGCCACTGCCCAATAACAAACTTTTTGGTATCTATAGGTTCTGGGGAAGAATTCCATTCCCAACCAGCAATGGAGGGCAGAATCATCACCAAATTAAATTCTGAAGGACTGGATCAAATACAACTGATAATCTCTAAACAGACACTGAATTGACAGATTCCACTACTAAAGGTATTATTAGTCTTGAGAAAGAATTTTGGGGATGGAAATAGGAAAAGCTCTGAGTTAATTTTTCATAACATTACTACTTGATGTAACTCCACTATGCCTTCAATATAAGATTTCCATTTTAGCCTCTTCCTATGCTTCTGCTTTTACTGTAAACACTTGTAAAGAACAGAATTTATGGACCATTGCAGAGTAAGTCAGAAATTTGTGTGACACTGTAGTAAAACTTCAGAATGTGTGTAATTCACATTCAATGAATTCCACGATGAGGTTAATACCGGACACAGTACCCTGAAGCATAAACTAATGGGATTTAGGCATATTCATTTAGTTTTCAACAAAGATTTCCTGAGCACCCACTAACATGCCAGAAATCATGCTAGATATGAGTACACATAAAAGAGCAAGAATTTCACGCCAAGAAACTCATAGTTTAAGAGAAGGCAAGTCATAACATAATGAACATCAATAATAACAGCAATGGTTACCATTTTATATCTTCTATGTGCTTGTTCTGTGCTAGATTGCTTTCTAGGTTTTCATTTAATCTTTAGACCAGCCTCTACGGTGAGTACCTCAATATTAAACGAATAAGCTGAGGCTGAGAGGATAAGTGTGGCTAATAATCTACAGAATCAGGGACAGAGTACAGGACTGATTACAAAACCACGTGTTTTCCATTTTACTGTGCCACAGTAAAAGAAGTTAAATGCACAGTATTGACTACTGAATATTTTGTGACTTAATTCAAGATGATATCCCTGAAAGGATGAGAGAGGAGGAAGACACAATGGCAAGAGAAAGAGTAGGGGGACAGTGAACGATAGCTACAAGCATATCTATTAAAAAAAAAAAAAAGAGACGAATACCAAGAATAAACCCAGGTGACATGTCAATCAACATCATCATACCCTCTTTCTCGTCCAACATTAAGGAGCTCAAGGATAATGAATAAATACAGTGAACACTGGGAGGGGTGGAAGTATTTAAGTTGCTACCTAGGTAACTATAATAGGACTCATAGCAACAAAGATGAATGAAGTTCAAAGGAAATCAGGCCCAAACTGTCTAATACGGCCTGGTAATTAAAGTATTCTTCTCTTACCTAATATAGATATTGCATGCAGTCTGGCCTGAACTGCCTGCAATCGCTTCCTGTGATTAGAAAAGCCATGGGCCAGTCGTATGTGTGTAAATAACAGCATCTGTAGAGAGATAAGACATACATTTTAAAAACATCAATGAAAAAGGTGAATATTCTTTATGAGGGCTAACTCAAAAAACAACACAACTAAACGTTTTCTCCTTTGATATCCGAAGTGTTCAGAAAGCTACCACCACTTATTACCTGCTCACGGTGAGGTAGTTTATGTTTTCCTCAAACTCTCATAAGGCCTAGGAAGTTATTAAGTGTTAACCTCATAAAAGACAAGGAAACTAAGGCTCAGAGAAGCTAACAATTTGCCCATGGTCTGACTCCAAAGCTGACATTCTTTCTGCTATGCAATCTCCCACCCCAGTACATATCATTAATCTATTTAGATAACAACCACATCCTGTGGATGTTTTAAAGCCACATCATACCTGCTTATCCTTAGGAATGCTGTACATTTTGGTAAGAGATTCCATGATTTCAGAAGGGCTTTCTGAAATCTACATTAAAAAAAAAAGATATAGTTAGGAACAAAAAGTGAACCAAACATTAAGAAACGAGCCAAGAGTCAAAGATTCCTCTTACCTTGTCAAGTTGCTCTATGTGAATATAATGTAGTGTGTTACTAGTTGTCTAAAATTAAAAAAGACAAGAGAGCTGTAAGGAGTCACTGAACACTCTAGCTTCCCCTTCCATAGAGCTCCAAAGGGCTGTCTGAAAACCAAGATGTCACCTAATAGGCTGAAGCCTAAGTGAATGCTCTTAAAATCAAGGTAAATTGAGAATCTTCCAAAACATCCATCTTATATGTAGAATATTCTTAGGAAAGCTCCTTTAAAACCAGTAGTATCAAACTATAATGCACATAGCCAGGCACATTTCATATTCTTCTTTGTCCTTTTTTAACCCTCCACTGACTTAATATCCATAGCAGTATTAATAGCAAAGACCAAATTCATGAAAATATTTTCTCTCTGAATATGTATTAGAGTTGCTTTCAAGGCAATTAAGCTAGAAAGATTATTTATTTATTGAATAGTATAGGTAGAAGAGAAATTGTATTTTCACTAAGCTACTTCTAAACCAAACTCTTTAGTACCTCCTCAAACAATACAAAATGACCAGATAATTTAAGCAGGACACTATCCACAATACATAAAGACTTTTGCAGGCTTCCTAATTAGAGAAACCTGAGCCATCACCATCCAAACTACTATACTACATGTTGGAATTCTCAGAGACTGTGGGAAAAGCACATAGGTCATAGCAGTGCCTCATAATGGATGGGACTTGCATCTTTTGGCAGCTCCCAACATAAGACCCAACCCTATCAGAGTTGGGGATGCAATTAACACTCCTGAGGAGCTGCTAGGTATATTTATAGTTTGCGAGGGCAGCAGTGTAGCTCAAAACCATTTATTCATTTAACTGAGGAGTTCTAGAAGAGGCAATCCCAGTTACAGTAAATTGTAGACTTTGTCAGAACAAATCTGAATCAGACTCACCCTTTTCTCAATTTTGACCTCGGCCCCAGGATCTGCATAGAATTCAAAGTGTAGTGTAGTTGCACTGGGTGGATATTTCTGTGTATAAAGCACATCAAAGAATCAGACATTGAGTTTCAACTGATTATAAACATTATCCCCCACATCTTCCCTCAAAGTCCTAGCCACTTGTTCAACTTATTGTGGCAGAAGAATAAGCAGTACATTCAGTACCTACAGTGCCTTTAACTGTTTGTCTTAGAGCAGAGCTCAGATAGGATGAGACTTTTCAAACAGAATCAAAAGGACAGAGCCCAGAGCTCCCAAACCTTCTGCATTTCATACTTATAAATTTCCAGTTTCCCTTTAAGAGATCAATTTTGACTGTGGCTATTCCCAAGGGGGAAAAGAGGGGCAAGACTGCCAAGCAGTAATGAATAAGAATCCAAGAAAGGATGGAGAACAAATACCAGGGCCCAGAAACCAGCTAAAGAATGGAAAAGAACATTCCTACGAAAAACCTTGTACCTATCATCAGCCTTCTGAAATATTTAATTCAAAGTATGCCTCATAGGCATATCTTCATAATTCTTCAAACACTTTCCTTCTATACCATTCTACACCACTTCTCATGGTATGTTTTCTGCACAGGTAGATACCAAGACAACATAAACCAGACCCTGACAAAACATTCTCTTTAACTCTAGAAAAGCAACATGATGAACAAAATTAAGATGACAGCAGAATGCCCACTAAAATGTCTCACTGAAAGACACCACTTGCAGTGGTTGCCTCTGGAAAATTAAGAAGTTACCACTGCATACCTCTTTATACTCTGAATTTTTTAACATGTATATGTATTACTTCCTTTTAAAGTACACGTTAACCTTTATGTTGTCATAATTAGAATTCCAAACTCTGAATATACTTCAAGATTTATGTAGTTTTGATTATTAAACAGACAACACTCACCTACTGTATCACCCAATATCTCTTCATAAAATAATCACTAAAGAAAAGTATGCCAGCTAACGTGGGAAAGTAACTTGATCTAATCTGTGGTTTTCTGA
|
benign
| 334,903 |
Variant in gene HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1), located at chromosome X position 53631489: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
benign
|
AAAAAGTCTCAAATCCAAAATACTTCTGGTCCCAAGTGTTACAGCTAAGGGTTACTCAACCTGTAAAATACTTACCATAAGCTGCTTATCCGTTATCTGAAGGACATCTACCAACTCCTCTATCAAGCCATTATACAAGATACTGTTTGCTGATTCCTGCAAGGCATTGGAATACACTGCAAAAGGAGAAACAAACACTTTAGGCAAGAAGGCAGTGGTCAAGCCACTGCCCAATAACAAACTTTTTGGTATCTATAGGTTCTGGGGAAGAATTCCATTCCCAACCAGCAATGGAGGGCAGAATCATCACCAAATTAAATTCTGAAGGACTGGATCAAATACAACTGATAATCTCTAAACAGACACTGAATTGACAGATTCCACTACTAAAGGTATTATTAGTCTTGAGAAAGAATTTTGGGGATGGAAATAGGAAAAGCTCTGAGTTAATTTTTCATAACATTACTACTTGATGTAACTCCACTATGCCTTCAATATAAGATTTCCATTTTAGCCTCTTCCTATGCTTCTGCTTTTACTGTAAACACTTGTAAAGAACAGAATTTATGGACCATTGCAGAGTAAGTCAGAAATTTGTGTGACACTGTAGTAAAACTTCAGAATGTGTGTAATTCACATTCAATGAATTCCACGATGAGGTTAATACCGGACACAGTACCCTGAAGCATAAACTAATGGGATTTAGGCATATTCATTTAGTTTTCAACAAAGATTTCCTGAGCACCCACTAACATGCCAGAAATCATGCTAGATATGAGTACACATAAAAGAGCAAGAATTTCACGCCAAGAAACTCATAGTTTAAGAGAAGGCAAGTCATAACATAATGAACATCAATAATAACAGCAATGGTTACCATTTTATATCTTCTATGTGCTTGTTCTGTGCTAGATTGCTTTCTAGGTTTTCATTTAATCTTTAGACCAGCCTCTACGGTGAGTACCTCAATATTAAACGAATAAGCTGAGGCTGAGAGGATAAGTGTGGCTAATAATCTACAGAATCAGGGACAGAGTACAGGACTGATTACAAAACCACGTGTTTTCCATTTTACTGTGCCACAGTAAAAGAAGTTAAATGCACAGTATTGACTACTGAATATTTTGTGACTTAATTCAAGATGATATCCCTGAAAGGATGAGAGAGGAGGAAGACACAATGGCAAGAGAAAGAGTAGGGGGACAGTGAACGATAGCTACAAGCATATCTATTAAAAAAAAAAAAAAGAGACGAATACCAAGAATAAACCCAGGTGACATGTCAATCAACATCATCATACCCTCTTTCTCGTCCAACATTAAGGAGCTCAAGGATAATGAATAAATACAGTGAACACTGGGAGGGGTGGAAGTATTTAAGTTGCTACCTAGGTAACTATAATAGGACTCATAGCAACAAAGATGAATGAAGTTCAAAGGAAATCAGGCCCAAACTGTCTAATACGGCCTGGTAATTAAAGTATTCTTCTCTTACCTAATATAGATATTGCATGCAGTCTGGCCTGAACTGCCTGCAATCGCTTCCTGTGATTAGAAAAGCCATGGGCCAGTCGTATGTGTGTAAATAACAGCATCTGTAGAGAGATAAGACATACATTTTAAAAACATCAATGAAAAAGGTGAATATTCTTTATGAGGGCTAACTCAAAAAACAACACAACTAAACGTTTTCTCCTTTGATATCCGAAGTGTTCAGAAAGCTACCACCACTTATTACCTGCTCACGGTGAGGTAGTTTATGTTTTCCTCAAACTCTCATAAGGCCTAGGAAGTTATTAAGTGTTAACCTCATAAAAGACAAGGAAACTAAGGCTCAGAGAAGCTAACAATTTGCCCATGGTCTGACTCCAAAGCTGACATTCTTTCTGCTATGCAATCTCCCACCCCAGTACATATCATTAATCTATTTAGATAACAACCACATCCTGTGGATGTTTTAAAGCCACATCATACCTGCTTATCCTTAGGAATGCTGTACATTTTGGTAAGAGATTCCATGATTTCAGAAGGGCTTTCTGAAATCTACATTAAAAAAAAAGATATAGTTAGGAACAAAAAGTGAACCAAACATTAAGAAACGAGCCAAGAGTCAAAGATTCCTCTTACCTTGTCAAGTTGCTCTATGTGAATATAATGTAGTGTGTTACTAGTTGTCTAAAATTAAAAAAGACAAGAGAGCTGTAAGGAGTCACTGAACACTCTAGCTTCCCCTTCCATAGAGCTCCAAAGGGCTGTCTGAAAACCAAGATGTCACCTAATAGGCTGAAGCCTAAGTGAATGCTCTTAAAATCAAGGTAAATTGAGAATCTTCCAAAACATCCATCTTATATGTAGAATATTCTTAGGAAAGCTCCTTTAAAACCAGTAGTATCAAACTATAATGCACATAGCCAGGCACATTTCATATTCTTCTTTGTCCTTTTTTAACCCTCCACTGACTTAATATCCATAGCAGTATTAATAGCAAAGACCAAATTCATGAAAATATTTTCTCTCTGAATATGTATTAGAGTTGCTTTCAAGGCAATTAAGCTAGAAAGATTATTTATTTATTGAATAGTATAGGTAGAAGAGAAATTGTATTTTCACTAAGCTACTTCTAAACCAAACTCTTTAGTACCTCCTCAAACAATACAAAATGACCAGATAATTTAAGCAGGACACTATCCACAATACATAAAGACTTTTGCAGGCTTCCTAATTAGAGAAACCTGAGCCATCACCATCCAAACTACTATACTACATGTTGGAATTCTCAGAGACTGTGGGAAAAGCACATAGGTCATAGCAGTGCCTCATAATGGATGGGACTTGCATCTTTTGGCAGCTCCCAACATAAGACCCAACCCTATCAGAGTTGGGGATGCAATTAACACTCCTGAGGAGCTGCTAGGTATATTTATAGTTTGCGAGGGCAGCAGTGTAGCTCAAAACCATTTATTCATTTAACTGAGGAGTTCTAGAAGAGGCAATCCCAGTTACAGTAAATTGTAGACTTTGTCAGAACAAATCTGAATCAGACTCACCCTTTTCTCAATTTTGACCTCGGCCCCAGGATCTGCATAGAATTCAAAGTGTAGTGTAGTTGCACTGGGTGGATATTTCTGTGTATAAAGCACATCAAAGAATCAGACATTGAGTTTCAACTGATTATAAACATTATCCCCCACATCTTCCCTCAAAGTCCTAGCCACTTGTTCAACTTATTGTGGCAGAAGAATAAGCAGTACATTCAGTACCTACAGTGCCTTTAACTGTTTGTCTTAGAGCAGAGCTCAGATAGGATGAGACTTTTCAAACAGAATCAAAAGGACAGAGCCCAGAGCTCCCAAACCTTCTGCATTTCATACTTATAAATTTCCAGTTTCCCTTTAAGAGATCAATTTTGACTGTGGCTATTCCCAAGGGGGAAAAGAGGGGCAAGACTGCCAAGCAGTAATGAATAAGAATCCAAGAAAGGATGGAGAACAAATACCAGGGCCCAGAAACCAGCTAAAGAATGGAAAAGAACATTCCTACGAAAAACCTTGTACCTATCATCAGCCTTCTGAAATATTTAATTCAAAGTATGCCTCATAGGCATATCTTCATAATTCTTCAAACACTTTCCTTCTATACCATTCTACACCACTTCTCATGGTATGTTTTCTGCACAGGTAGATACCAAGACAACATAAACCAGACCCTGACAAAACATTCTCTTTAACTCTAGAAAAGCAACATGATGAACAAAATTAAGATGACAGCAGAATGCCCACTAAAATGTCTCACTGAAAGACACCACTTGCAGTGGTTGCCTCTGGAAAATTAAGAAGTTACCACTGCATACCTCTTTATACTCTGAATTTTTTAACATGTATATGTATTACTTCCTTTTAAAGTACACGTTAACCTTTATGTTGTCATAATTAGAATTCCAAACTCTGAATATACTTCAAGATTTATGTAGTTTTGATTATTAAACAGACAACACTCACCTACTGTATCACCCAATATCTCTTCATAAAATAATCACTAAAGAAAAGTATGCCAGCTAACGTGGGAAAGTAACTTGATCTAATCTGTGGTTTTCTGAG
|
AAAAAGTCTCAAATCCAAAATACTTCTGGTCCCAAGTGTTACAGCTAAGGGTTACTCAACCTGTAAAATACTTACCATAAGCTGCTTATCCGTTATCTGAAGGACATCTACCAACTCCTCTATCAAGCCATTATACAAGATACTGTTTGCTGATTCCTGCAAGGCATTGGAATACACTGCAAAAGGAGAAACAAACACTTTAGGCAAGAAGGCAGTGGTCAAGCCACTGCCCAATAACAAACTTTTTGGTATCTATAGGTTCTGGGGAAGAATTCCATTCCCAACCAGCAATGGAGGGCAGAATCATCACCAAATTAAATTCTGAAGGACTGGATCAAATACAACTGATAATCTCTAAACAGACACTGAATTGACAGATTCCACTACTAAAGGTATTATTAGTCTTGAGAAAGAATTTTGGGGATGGAAATAGGAAAAGCTCTGAGTTAATTTTTCATAACATTACTACTTGATGTAACTCCACTATGCCTTCAATATAAGATTTCCATTTTAGCCTCTTCCTATGCTTCTGCTTTTACTGTAAACACTTGTAAAGAACAGAATTTATGGACCATTGCAGAGTAAGTCAGAAATTTGTGTGACACTGTAGTAAAACTTCAGAATGTGTGTAATTCACATTCAATGAATTCCACGATGAGGTTAATACCGGACACAGTACCCTGAAGCATAAACTAATGGGATTTAGGCATATTCATTTAGTTTTCAACAAAGATTTCCTGAGCACCCACTAACATGCCAGAAATCATGCTAGATATGAGTACACATAAAAGAGCAAGAATTTCACGCCAAGAAACTCATAGTTTAAGAGAAGGCAAGTCATAACATAATGAACATCAATAATAACAGCAATGGTTACCATTTTATATCTTCTATGTGCTTGTTCTGTGCTAGATTGCTTTCTAGGTTTTCATTTAATCTTTAGACCAGCCTCTACGGTGAGTACCTCAATATTAAACGAATAAGCTGAGGCTGAGAGGATAAGTGTGGCTAATAATCTACAGAATCAGGGACAGAGTACAGGACTGATTACAAAACCACGTGTTTTCCATTTTACTGTGCCACAGTAAAAGAAGTTAAATGCACAGTATTGACTACTGAATATTTTGTGACTTAATTCAAGATGATATCCCTGAAAGGATGAGAGAGGAGGAAGACACAATGGCAAGAGAAAGAGTAGGGGGACAGTGAACGATAGCTACAAGCATATCTATTAAAAAAAAAAAAAAGAGACGAATACCAAGAATAAACCCAGGTGACATGTCAATCAACATCATCATACCCTCTTTCTCGTCCAACATTAAGGAGCTCAAGGATAATGAATAAATACAGTGAACACTGGGAGGGGTGGAAGTATTTAAGTTGCTACCTAGGTAACTATAATAGGACTCATAGCAACAAAGATGAATGAAGTTCAAAGGAAATCAGGCCCAAACTGTCTAATACGGCCTGGTAATTAAAGTATTCTTCTCTTACCTAATATAGATATTGCATGCAGTCTGGCCTGAACTGCCTGCAATCGCTTCCTGTGATTAGAAAAGCCATGGGCCAGTCGTATGTGTGTAAATAACAGCATCTGTAGAGAGATAAGACATACATTTTAAAAACATCAATGAAAAAGGTGAATATTCTTTATGAGGGCTAACTCAAAAAACAACACAACTAAACGTTTTCTCCTTTGATATCCGAAGTGTTCAGAAAGCTACCACCACTTATTACCTGCTCACGGTGAGGTAGTTTATGTTTTCCTCAAACTCTCATAAGGCCTAGGAAGTTATTAAGTGTTAACCTCATAAAAGACAAGGAAACTAAGGCTCAGAGAAGCTAACAATTTGCCCATGGTCTGACTCCAAAGCTGACATTCTTTCTGCTATGCAATCTCCCACCCCAGTACATATCATTAATCTATTTAGATAACAACCACATCCTGTGGATGTTTTAAAGCCACATCATACCTGCTTATCCTTAGGAATGCTGTACATTTTGGTAAGAGATTCCATGATTTCAGAAGGGCTTTCTGAAATCTACATTAAAAAAAAGATATAGTTAGGAACAAAAAGTGAACCAAACATTAAGAAACGAGCCAAGAGTCAAAGATTCCTCTTACCTTGTCAAGTTGCTCTATGTGAATATAATGTAGTGTGTTACTAGTTGTCTAAAATTAAAAAAGACAAGAGAGCTGTAAGGAGTCACTGAACACTCTAGCTTCCCCTTCCATAGAGCTCCAAAGGGCTGTCTGAAAACCAAGATGTCACCTAATAGGCTGAAGCCTAAGTGAATGCTCTTAAAATCAAGGTAAATTGAGAATCTTCCAAAACATCCATCTTATATGTAGAATATTCTTAGGAAAGCTCCTTTAAAACCAGTAGTATCAAACTATAATGCACATAGCCAGGCACATTTCATATTCTTCTTTGTCCTTTTTTAACCCTCCACTGACTTAATATCCATAGCAGTATTAATAGCAAAGACCAAATTCATGAAAATATTTTCTCTCTGAATATGTATTAGAGTTGCTTTCAAGGCAATTAAGCTAGAAAGATTATTTATTTATTGAATAGTATAGGTAGAAGAGAAATTGTATTTTCACTAAGCTACTTCTAAACCAAACTCTTTAGTACCTCCTCAAACAATACAAAATGACCAGATAATTTAAGCAGGACACTATCCACAATACATAAAGACTTTTGCAGGCTTCCTAATTAGAGAAACCTGAGCCATCACCATCCAAACTACTATACTACATGTTGGAATTCTCAGAGACTGTGGGAAAAGCACATAGGTCATAGCAGTGCCTCATAATGGATGGGACTTGCATCTTTTGGCAGCTCCCAACATAAGACCCAACCCTATCAGAGTTGGGGATGCAATTAACACTCCTGAGGAGCTGCTAGGTATATTTATAGTTTGCGAGGGCAGCAGTGTAGCTCAAAACCATTTATTCATTTAACTGAGGAGTTCTAGAAGAGGCAATCCCAGTTACAGTAAATTGTAGACTTTGTCAGAACAAATCTGAATCAGACTCACCCTTTTCTCAATTTTGACCTCGGCCCCAGGATCTGCATAGAATTCAAAGTGTAGTGTAGTTGCACTGGGTGGATATTTCTGTGTATAAAGCACATCAAAGAATCAGACATTGAGTTTCAACTGATTATAAACATTATCCCCCACATCTTCCCTCAAAGTCCTAGCCACTTGTTCAACTTATTGTGGCAGAAGAATAAGCAGTACATTCAGTACCTACAGTGCCTTTAACTGTTTGTCTTAGAGCAGAGCTCAGATAGGATGAGACTTTTCAAACAGAATCAAAAGGACAGAGCCCAGAGCTCCCAAACCTTCTGCATTTCATACTTATAAATTTCCAGTTTCCCTTTAAGAGATCAATTTTGACTGTGGCTATTCCCAAGGGGGAAAAGAGGGGCAAGACTGCCAAGCAGTAATGAATAAGAATCCAAGAAAGGATGGAGAACAAATACCAGGGCCCAGAAACCAGCTAAAGAATGGAAAAGAACATTCCTACGAAAAACCTTGTACCTATCATCAGCCTTCTGAAATATTTAATTCAAAGTATGCCTCATAGGCATATCTTCATAATTCTTCAAACACTTTCCTTCTATACCATTCTACACCACTTCTCATGGTATGTTTTCTGCACAGGTAGATACCAAGACAACATAAACCAGACCCTGACAAAACATTCTCTTTAACTCTAGAAAAGCAACATGATGAACAAAATTAAGATGACAGCAGAATGCCCACTAAAATGTCTCACTGAAAGACACCACTTGCAGTGGTTGCCTCTGGAAAATTAAGAAGTTACCACTGCATACCTCTTTATACTCTGAATTTTTTAACATGTATATGTATTACTTCCTTTTAAAGTACACGTTAACCTTTATGTTGTCATAATTAGAATTCCAAACTCTGAATATACTTCAAGATTTATGTAGTTTTGATTATTAAACAGACAACACTCACCTACTGTATCACCCAATATCTCTTCATAAAATAATCACTAAAGAAAAGTATGCCAGCTAACGTGGGAAAGTAACTTGATCTAATCTGTGGTTTTCTGAGN
|
benign
| 334,904 |
Chromosome X, position 53632572, gene HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
AGTAAAAGAAGTTAAATGCACAGTATTGACTACTGAATATTTTGTGACTTAATTCAAGATGATATCCCTGAAAGGATGAGAGAGGAGGAAGACACAATGGCAAGAGAAAGAGTAGGGGGACAGTGAACGATAGCTACAAGCATATCTATTAAAAAAAAAAAAAAGAGACGAATACCAAGAATAAACCCAGGTGACATGTCAATCAACATCATCATACCCTCTTTCTCGTCCAACATTAAGGAGCTCAAGGATAATGAATAAATACAGTGAACACTGGGAGGGGTGGAAGTATTTAAGTTGCTACCTAGGTAACTATAATAGGACTCATAGCAACAAAGATGAATGAAGTTCAAAGGAAATCAGGCCCAAACTGTCTAATACGGCCTGGTAATTAAAGTATTCTTCTCTTACCTAATATAGATATTGCATGCAGTCTGGCCTGAACTGCCTGCAATCGCTTCCTGTGATTAGAAAAGCCATGGGCCAGTCGTATGTGTGTAAATAACAGCATCTGTAGAGAGATAAGACATACATTTTAAAAACATCAATGAAAAAGGTGAATATTCTTTATGAGGGCTAACTCAAAAAACAACACAACTAAACGTTTTCTCCTTTGATATCCGAAGTGTTCAGAAAGCTACCACCACTTATTACCTGCTCACGGTGAGGTAGTTTATGTTTTCCTCAAACTCTCATAAGGCCTAGGAAGTTATTAAGTGTTAACCTCATAAAAGACAAGGAAACTAAGGCTCAGAGAAGCTAACAATTTGCCCATGGTCTGACTCCAAAGCTGACATTCTTTCTGCTATGCAATCTCCCACCCCAGTACATATCATTAATCTATTTAGATAACAACCACATCCTGTGGATGTTTTAAAGCCACATCATACCTGCTTATCCTTAGGAATGCTGTACATTTTGGTAAGAGATTCCATGATTTCAGAAGGGCTTTCTGAAATCTACATTAAAAAAAAAGATATAGTTAGGAACAAAAAGTGAACCAAACATTAAGAAACGAGCCAAGAGTCAAAGATTCCTCTTACCTTGTCAAGTTGCTCTATGTGAATATAATGTAGTGTGTTACTAGTTGTCTAAAATTAAAAAAGACAAGAGAGCTGTAAGGAGTCACTGAACACTCTAGCTTCCCCTTCCATAGAGCTCCAAAGGGCTGTCTGAAAACCAAGATGTCACCTAATAGGCTGAAGCCTAAGTGAATGCTCTTAAAATCAAGGTAAATTGAGAATCTTCCAAAACATCCATCTTATATGTAGAATATTCTTAGGAAAGCTCCTTTAAAACCAGTAGTATCAAACTATAATGCACATAGCCAGGCACATTTCATATTCTTCTTTGTCCTTTTTTAACCCTCCACTGACTTAATATCCATAGCAGTATTAATAGCAAAGACCAAATTCATGAAAATATTTTCTCTCTGAATATGTATTAGAGTTGCTTTCAAGGCAATTAAGCTAGAAAGATTATTTATTTATTGAATAGTATAGGTAGAAGAGAAATTGTATTTTCACTAAGCTACTTCTAAACCAAACTCTTTAGTACCTCCTCAAACAATACAAAATGACCAGATAATTTAAGCAGGACACTATCCACAATACATAAAGACTTTTGCAGGCTTCCTAATTAGAGAAACCTGAGCCATCACCATCCAAACTACTATACTACATGTTGGAATTCTCAGAGACTGTGGGAAAAGCACATAGGTCATAGCAGTGCCTCATAATGGATGGGACTTGCATCTTTTGGCAGCTCCCAACATAAGACCCAACCCTATCAGAGTTGGGGATGCAATTAACACTCCTGAGGAGCTGCTAGGTATATTTATAGTTTGCGAGGGCAGCAGTGTAGCTCAAAACCATTTATTCATTTAACTGAGGAGTTCTAGAAGAGGCAATCCCAGTTACAGTAAATTGTAGACTTTGTCAGAACAAATCTGAATCAGACTCACCCTTTTCTCAATTTTGACCTCGGCCCCAGGATCTGCATAGAATTCAAAGTGTAGTGTAGTTGCACTGGGTGGATATTTCTGTGTATAAAGCACATCAAAGAATCAGACATTGAGTTTCAACTGATTATAAACATTATCCCCCACATCTTCCCTCAAAGTCCTAGCCACTTGTTCAACTTATTGTGGCAGAAGAATAAGCAGTACATTCAGTACCTACAGTGCCTTTAACTGTTTGTCTTAGAGCAGAGCTCAGATAGGATGAGACTTTTCAAACAGAATCAAAAGGACAGAGCCCAGAGCTCCCAAACCTTCTGCATTTCATACTTATAAATTTCCAGTTTCCCTTTAAGAGATCAATTTTGACTGTGGCTATTCCCAAGGGGGAAAAGAGGGGCAAGACTGCCAAGCAGTAATGAATAAGAATCCAAGAAAGGATGGAGAACAAATACCAGGGCCCAGAAACCAGCTAAAGAATGGAAAAGAACATTCCTACGAAAAACCTTGTACCTATCATCAGCCTTCTGAAATATTTAATTCAAAGTATGCCTCATAGGCATATCTTCATAATTCTTCAAACACTTTCCTTCTATACCATTCTACACCACTTCTCATGGTATGTTTTCTGCACAGGTAGATACCAAGACAACATAAACCAGACCCTGACAAAACATTCTCTTTAACTCTAGAAAAGCAACATGATGAACAAAATTAAGATGACAGCAGAATGCCCACTAAAATGTCTCACTGAAAGACACCACTTGCAGTGGTTGCCTCTGGAAAATTAAGAAGTTACCACTGCATACCTCTTTATACTCTGAATTTTTTAACATGTATATGTATTACTTCCTTTTAAAGTACACGTTAACCTTTATGTTGTCATAATTAGAATTCCAAACTCTGAATATACTTCAAGATTTATGTAGTTTTGATTATTAAACAGACAACACTCACCTACTGTATCACCCAATATCTCTTCATAAAATAATCACTAAAGAAAAGTATGCCAGCTAACGTGGGAAAGTAACTTGATCTAATCTGTGGTTTTCTGAGACCAGAAAAGAGCCATTCTCTTTAGGAAAAAAAGGCTTGCTAAGATAAATACACTAAATTTCACTGCAGCCATTTGTGCTAAACACGACAAACTGACAAGACAAATCCCACGTGGAAAATATAGTTGCTTCCAGATGCAAAATAATTATTGAAAATCAAATTGTGTTTTGTAGCTCCACAGCAACATATCAAAGCAGAAAGGAGGATGGCCTGAGCTCATAACTTAAACATGGGTGAAAGGCAGAGAGATAAACAAGGAAAGCACATAAAACATTATAAGTTCTCAATAAACCTAATGGTAGAACTGCTCTCCAAGCAGCCATTCCTAAATCACACCACACTGTCCAGAGTTCTGATACAATAGTTCCAGTGTGAGAATGCAAGCGAACATACTTTCTGGGATTTAAAAAAAATCACATTAAAATTAATTCAACAAATACAGCTACCTACTCAAGAACTGGGTATGAACACACACTCTATTTCTCAGATTTTTTTATCTACCACCAGCACATCAAGAGCCCAAGCACTGCTAGACTGCTTCCTATAGACGTGGTTCAGCTATGTCTGAACTGATCTTAGGTTCCTCAAAGGTCTCGATGTGAAGGCGTCACTTCATATACCACAATTCATTGTAAAGTAAGGTTCACAGAGAGGCCACAGCTCTGTCAAAAGACACCCATATCCCAAAGAGTTACTTACCATCATATGCAAGTCTCTGCAACATTCTGCAAGTCCAAAGCCATTCTCCTTTCCACCCCAGCTCTTGAAAAAGGAAAAAGATAGTGTTAAGACAGTGCTTATGGTGACTTTGCGCCACTGCACTCCAGCCTAGGCAACAGAGTGAGACCTTATCTCTCTTTCTCTCTATGTATATACACATACATATATATATTTAAGAGTGTGTGGCTGCTTGGAACATAATGTTGAGAAGACATCCAATGTGAAAGTCAAACAAGAGGAAAAAACGAACAGAAATAAGAACTTAAGAATCAAGGCAAGATGGTCTGCCTAAAGGTGATTTCTTCAATGAGATCAATTTCACTGTTCAGTGAGGATGCTCCTAGGAAGAACTCAAGCAGCAAC
|
AGTAAAAGAAGTTAAATGCACAGTATTGACTACTGAATATTTTGTGACTTAATTCAAGATGATATCCCTGAAAGGATGAGAGAGGAGGAAGACACAATGGCAAGAGAAAGAGTAGGGGGACAGTGAACGATAGCTACAAGCATATCTATTAAAAAAAAAAAAAAGAGACGAATACCAAGAATAAACCCAGGTGACATGTCAATCAACATCATCATACCCTCTTTCTCGTCCAACATTAAGGAGCTCAAGGATAATGAATAAATACAGTGAACACTGGGAGGGGTGGAAGTATTTAAGTTGCTACCTAGGTAACTATAATAGGACTCATAGCAACAAAGATGAATGAAGTTCAAAGGAAATCAGGCCCAAACTGTCTAATACGGCCTGGTAATTAAAGTATTCTTCTCTTACCTAATATAGATATTGCATGCAGTCTGGCCTGAACTGCCTGCAATCGCTTCCTGTGATTAGAAAAGCCATGGGCCAGTCGTATGTGTGTAAATAACAGCATCTGTAGAGAGATAAGACATACATTTTAAAAACATCAATGAAAAAGGTGAATATTCTTTATGAGGGCTAACTCAAAAAACAACACAACTAAACGTTTTCTCCTTTGATATCCGAAGTGTTCAGAAAGCTACCACCACTTATTACCTGCTCACGGTGAGGTAGTTTATGTTTTCCTCAAACTCTCATAAGGCCTAGGAAGTTATTAAGTGTTAACCTCATAAAAGACAAGGAAACTAAGGCTCAGAGAAGCTAACAATTTGCCCATGGTCTGACTCCAAAGCTGACATTCTTTCTGCTATGCAATCTCCCACCCCAGTACATATCATTAATCTATTTAGATAACAACCACATCCTGTGGATGTTTTAAAGCCACATCATACCTGCTTATCCTTAGGAATGCTGTACATTTTGGTAAGAGATTCCATGATTTCAGAAGGGCTTTCTGAAATCTACATTAAAAAAAAAGATATAGTTAGGAACAAAAAGTGAACCAAACATTAAGAAACGAGCCAAGAGTCAAAGATTCCTCTTACCTTGTCAAGTTGCTCTATGTGAATATAATGTAGTGTGTTACTAGTTGTCTAAAATTAAAAAAGACAAGAGAGCTGTAAGGAGTCACTGAACACTCTAGCTTCCCCTTCCATAGAGCTCCAAAGGGCTGTCTGAAAACCAAGATGTCACCTAATAGGCTGAAGCCTAAGTGAATGCTCTTAAAATCAAGGTAAATTGAGAATCTTCCAAAACATCCATCTTATATGTAGAATATTCTTAGGAAAGCTCCTTTAAAACCAGTAGTATCAAACTATAATGCACATAGCCAGGCACATTTCATATTCTTCTTTGTCCTTTTTTAACCCTCCACTGACTTAATATCCATAGCAGTATTAATAGCAAAGACCAAATTCATGAAAATATTTTCTCTCTGAATATGTATTAGAGTTGCTTTCAAGGCAATTAAGCTAGAAAGATTATTTATTTATTGAATAGTATAGGTAGAAGAGAAATTGTATTTTCACTAAGCTACTTCTAAACCAAACTCTTTAGTACCTCCTCAAACAATACAAAATGACCAGATAATTTAAGCAGGACACTATCCACAATACATAAAGACTTTTGCAGGCTTCCTAATTAGAGAAACCTGAGCCATCACCATCCAAACTACTATACTACATGTTGGAATTCTCAGAGACTGTGGGAAAAGCACATAGGTCATAGCAGTGCCTCATAATGGATGGGACTTGCATCTTTTGGCAGCTCCCAACATAAGACCCAACCCTATCAGAGTTGGGGATGCAATTAACACTCCTGAGGAGCTGCTAGGTATATTTATAGTTTGCGAGGGCAGCAGTGTAGCTCAAAACCATTTATTCATTTAACTGAGGAGTTCTAGAAGAGGCAATCCCAGTTACAGTAAATTGTAGACTTTGTCAGAACAAATCTGAATCAGACTCACCCTTTTCTCAATTTTGACCTCGGCCCCAGGATCTGCATAGAATTCAAAGTGTAGTGTAGTTGCACTGGGTGGATATTTCTGTGTATAAAAGCACATCAAAGAATCAGACATTGAGTTTCAACTGATTATAAACATTATCCCCCACATCTTCCCTCAAAGTCCTAGCCACTTGTTCAACTTATTGTGGCAGAAGAATAAGCAGTACATTCAGTACCTACAGTGCCTTTAACTGTTTGTCTTAGAGCAGAGCTCAGATAGGATGAGACTTTTCAAACAGAATCAAAAGGACAGAGCCCAGAGCTCCCAAACCTTCTGCATTTCATACTTATAAATTTCCAGTTTCCCTTTAAGAGATCAATTTTGACTGTGGCTATTCCCAAGGGGGAAAAGAGGGGCAAGACTGCCAAGCAGTAATGAATAAGAATCCAAGAAAGGATGGAGAACAAATACCAGGGCCCAGAAACCAGCTAAAGAATGGAAAAGAACATTCCTACGAAAAACCTTGTACCTATCATCAGCCTTCTGAAATATTTAATTCAAAGTATGCCTCATAGGCATATCTTCATAATTCTTCAAACACTTTCCTTCTATACCATTCTACACCACTTCTCATGGTATGTTTTCTGCACAGGTAGATACCAAGACAACATAAACCAGACCCTGACAAAACATTCTCTTTAACTCTAGAAAAGCAACATGATGAACAAAATTAAGATGACAGCAGAATGCCCACTAAAATGTCTCACTGAAAGACACCACTTGCAGTGGTTGCCTCTGGAAAATTAAGAAGTTACCACTGCATACCTCTTTATACTCTGAATTTTTTAACATGTATATGTATTACTTCCTTTTAAAGTACACGTTAACCTTTATGTTGTCATAATTAGAATTCCAAACTCTGAATATACTTCAAGATTTATGTAGTTTTGATTATTAAACAGACAACACTCACCTACTGTATCACCCAATATCTCTTCATAAAATAATCACTAAAGAAAAGTATGCCAGCTAACGTGGGAAAGTAACTTGATCTAATCTGTGGTTTTCTGAGACCAGAAAAGAGCCATTCTCTTTAGGAAAAAAAGGCTTGCTAAGATAAATACACTAAATTTCACTGCAGCCATTTGTGCTAAACACGACAAACTGACAAGACAAATCCCACGTGGAAAATATAGTTGCTTCCAGATGCAAAATAATTATTGAAAATCAAATTGTGTTTTGTAGCTCCACAGCAACATATCAAAGCAGAAAGGAGGATGGCCTGAGCTCATAACTTAAACATGGGTGAAAGGCAGAGAGATAAACAAGGAAAGCACATAAAACATTATAAGTTCTCAATAAACCTAATGGTAGAACTGCTCTCCAAGCAGCCATTCCTAAATCACACCACACTGTCCAGAGTTCTGATACAATAGTTCCAGTGTGAGAATGCAAGCGAACATACTTTCTGGGATTTAAAAAAAATCACATTAAAATTAATTCAACAAATACAGCTACCTACTCAAGAACTGGGTATGAACACACACTCTATTTCTCAGATTTTTTTATCTACCACCAGCACATCAAGAGCCCAAGCACTGCTAGACTGCTTCCTATAGACGTGGTTCAGCTATGTCTGAACTGATCTTAGGTTCCTCAAAGGTCTCGATGTGAAGGCGTCACTTCATATACCACAATTCATTGTAAAGTAAGGTTCACAGAGAGGCCACAGCTCTGTCAAAAGACACCCATATCCCAAAGAGTTACTTACCATCATATGCAAGTCTCTGCAACATTCTGCAAGTCCAAAGCCATTCTCCTTTCCACCCCAGCTCTTGAAAAAGGAAAAAGATAGTGTTAAGACAGTGCTTATGGTGACTTTGCGCCACTGCACTCCAGCCTAGGCAACAGAGTGAGACCTTATCTCTCTTTCTCTCTATGTATATACACATACATATATATATTTAAGAGTGTGTGGCTGCTTGGAACATAATGTTGAGAAGACATCCAATGTGAAAGTCAAACAAGAGGAAAAAACGAACAGAAATAAGAACTTAAGAATCAAGGCAAGATGGTCTGCCTAAAGGTGATTTCTTCAATGAGATCAATTTCACTGTTCAGTGAGGATGCTCCTAGGAAGAACTCAAGCAGCAA
|
benign
| 334,908 |
A genetic variant on chromosome X, position 53940367, affects the gene PHF8 (PHD finger protein 8). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
benign
|
ACAGCCACAGCCACAGCCACGTGGATAATGTTCTACATGATTTCAAAATCCAGGCAAATCCCTGGAGCTCACCCTAAAACAAGTGGCCTCATGTGTAGCCAGCTAAAAGTAGCTTCCTCCAACAGGCTACAAAACCGTGGTCAAAGGCTTGGGCATCTGACCTCTCCCTACCTTGACAAGTGATAGGAATCACCTTTCTTTTGAAAGGTAAGTGAAGTTGGCATTTCTAGGCCACTTCTGGAAATGGCCCACAGTGGGGCAGGAAGGAGGCTCTAGGCCTTCCTCTTCATTTCCATGAAGCATTTGGCAAGAGGGGGCAGAGACCACAGCCTTCTCCCATGAGCAAGTCTGGAGGTGGGGCATGTCCACTGGACTGGGGAAATGGGGCAAACAGAATGGGTGGAGGTGGGCAGGCTTCTGGATATAGGGCTAGAGTTGCAGAAAGTGTCAAGCACTGGGCTTCCCACTTCATGGCTCAGGCTCCTTCATACCTCTCCTCATCCTGCCTTCCAGCTCTAGCGGGGGATGAAGAATAAAGAACAGACAAGGCAGGTGACGGGAGTGGTTTGGACGAGTAGAAAAGAGGGTTCTAGTCAGCTGGAAACCTCTCCCATTTACCTGCTCCTCAGTGGAGAAGGCAGGCAGGATGCTCTAGTGAAAGTGGGGAAGGGAACTAGAAGGAGTCGGTGGAGGGGTCCGTGCCTTTGGTAAGTCCCAAGAAAGCAGGACAATGCACCTCAGCACCTTGTCCAGGGCAGATAGGATCCAGGAGTGCCCCAAGAGTTGACAATGGAGAAGGCAATGGGGGTAAAGGGGTGAGGGGTGGGACACAGGAGGGCTCACAGAAGTAGTTTGCCATTTCTGTGGATTTTCAGGATACGGCCGAGTCTCTGCTTTGCTGTGGCCAGGCCCTTTTTGGGACGCTTTCCTGTGGGGGAAGGGAAAAGTAAGCAAGGGCTTTGGCAAGGGCTTCAACATCAAATCTGGCACCAACTGCCCTCAGGCCACCTCCCCTTCCTGTTTCTCTACCCACAAAGTTTCTCCATCCTTAGACCATATTGGGCAGGAAGCCCTCCTTAACTACTTCCAACCAACACCACATGCTTTGACTCTTCCTCCTATGACCTCCTGTAGCAGCAAGACTCCCTGATTACAGTTTGTCTAGTTCTTTTTCTCCACTGATTACTCTGGTCCCAATCATTTTCCTTCCAAGATCCTGCAGGGAGGTAAATGTACTTCCATACCCTCTTATCCTACCCACCAGGACTGGACAAGTGCCTGGTTAGTGATTAGAGCTCAGTGTCCCTGAAGTTGCCATCCCTAGGGCCTTGCTTCATTAGAAACTCTCATCTTCATCAGCCTTCAACATCACACCAACCTCCATGCCCTTGAGCTGCGTACTCTAGGGACTGGGCTTTGAGGACCAAAGTGAGGGAAAGGAAGGCTTCAGTCCTCTAACTCTTTGTTGTCTCTGTCTCCCCACATTAAATCCCCTCCCATGTCCTATTTGACTGCCTCCATATTTGATCAGTTCATCTCCTTCCTCTCCATTCCCTCTGGCAGAGCCCCAGGTACTCTTCCTGCCTGCCTGAACTTGTATATGTGCCTCCTCCCTAGAGTTCCCATCTCTAGCCCACCCTCTACCTCCTTCTGGCCACCAGAAGGATCTTTCAAAACTAAAACCTGATCTTGTCTGTACTTCAAATCAGTCAACATCTCTCCATGGCCCATAAGATCAAATCCAAGCACCTTAGGTTGGCCTTCAGTGTCCCTCCCTGGTATTGTCATCTACTAGAGCACTTAGGATTTAGGGCAGGTGGCTCTAAGATCCTTCGGTTCTACAACCATATGGCCGTTGTACCTTGTCCTGCCTGATTGCTCTGGGAGCCAACTGAAGGGCGCCGCTGGGTCAAGAAGACACCGGGGGCCATAGGTGTGGTGCTGCGGTTTGCCTGGGCCATGCCAAAGGCATTGGGACGAGCGGTGTACTCATGGTCAGCGAGACTTCCTGACAGGGCCTCTTGTTTAGGCTCAGGAGGAGGCAGGGGTGAGGAGGAGGTGACAAGTTGTGGTGTGGCAGCCACAGTGGGGGCTGGTACTGTCAGACTGAGATTGGAGTCTTGAGGGCGAGGCTGTTCTACCTCCTTCAGCAAAGGCTTCTTCTTGATATATTTCTTCTTTTGGGCCTTCTGTAGCTCCTGAAACACAAGCCAAGTAGGAGGAGAGATTAAGGAGTGAAGAAGACAAGTTCCCAGGAAAGGAACTAACTAGACAATGTCCAATATGGTTGTGCAACCTGCCACCCTCTCCCTTACCTGCACCAAGTCTAGCCTGGATGTACACACAGCACATAACAGGCCTTCCAATACCTGAGATCATCTCTTTGTTACCATCCATCCTTAAGTCACCACTGTCACTTATTAGTACAGTGCCAAGAAAGCTGTAAATGAATTTGGAGACTAGGATTTTGGTCCTAGTGTTGCCACTAATGAGGTAGACCTTGGACACGTCTAATGATAATAACTAAATTTACATCAGCAGCTGAGACACTTTATATACTTTATCTCATTTAATCCTCATAACAGCTCTAAGAAGAAAAAATCCTAATTTTACATATGAGAAAATGGAAGTGCAGGGATATTAAGTAACTTGAGCCCAAAGCCTCACAGCTGAAAAGTAGTTGGGACCACTATCTAACCAGGTCTATCTGAAGAGACACCTTGCAAACTTCTCAAAGTGGAAAATCTGAGCGTAGAAAGATTAGAAAGATTATTAGTTTTGGAATGAGATAAATCTGGTTCAAATCCAGGCTTGTGTCCCTAAATTGGATGACTATGGTCAAACTGACTAACCTTTCTGAATCTCAGCTACCTCATCTATAAAACAGGTAAAATAATATCTGCTTTTTAGGATTTTTGAAAAGATTAAGTGATGACATAAAAATACACAGCACATAGTAGATATTCGACAAGTGGTTAATTATTATTCTATCTTCATCTCTTATAATGGCTTCACTTCCTCTTGCTGGTCTTTTTCTTTTAACAGTGGGCTTGACAATCCTCCAGGTCACTGGGTCTAAAAACCTCACTTTGGGGATGGGAATGACAAATAAGGAGTTGTGTCACTTCTCCCAATACCTTGTATTTCAACCATCCACTGCCCTATGGATCTACTATCCACTGCATGGTGGACACTTGTATAGTGGGCATCTGGAGCCCTGAGAACCTGGAAAGGTGGTGCTGAGAGCATGTAAATCACTTCACCTTCTGAAATGCTACACAGCCACACAAACCAACTCAGTGATCACATTTTTTTGCCTTCTCTTGGCAACACAAGCCTAATCCTGCCTTCGGAAGATCTCACAGGCTGTGGCTACCACGGGCATTTCTGGGGTACAATAATAACAATATTAGTAATACATGTCAACCACTCTTCTATAATTACTCATTTAATACTTGTAAATACCCAAGAAGTAAGAATTATAATCCCATTTGAAGGATGAAGAAACTGTGGCACAGAGAGGCTAAGTCATTTCCCTAAGGTTACAGGACCAGTAAGTGGTCAAACTGGGATTCACATCCAAGCCATTTGGCTTCAGAATCTCTTCCCTCAGCCAAACTGCTATTCTAACCATACCAGGAACTGCATTTCTGTCCCTTTTTCTCTCACTTAAATCCAGAATTACCTCTTCATATCTAGATCACTAGCCTAAATTTTGCTACCTTTGCTGCCAATCTCTTTCACATATAATTTATCCAGATACTCCCACAGACAACTAGACCATCTTATGACAGAACCACTTTCACCTTGCCAATCCCGTTGCTCAAAAAGCTGTTAGCAGATCCCCGCCCAAGTTCAAACTCCCTGGCCTGACATTCATGATCTTCCACAGTCTGGCTGTTTACACTTAGCCAACCCATAATGATAATGATGAAAAAAGCTAACAGGCCTATAGTACTTACTCCATAACAACTGCCATTCTAAAAGAGCTTGTACGTACATTACCTCATTTAATCCTAAAATGAAGTCTATGAGGAAATGAGGCAAAGAGAAATTAACTTGCCCAAATGGTAGAACTATTACATAATTTAAATCC
|
ACAGCCACAGCCACAGCCACGTGGATAATGTTCTACATGATTTCAAAATCCAGGCAAATCCCTGGAGCTCACCCTAAAACAAGTGGCCTCATGTGTAGCCAGCTAAAAGTAGCTTCCTCCAACAGGCTACAAAACCGTGGTCAAAGGCTTGGGCATCTGACCTCTCCCTACCTTGACAAGTGATAGGAATCACCTTTCTTTTGAAAGGTAAGTGAAGTTGGCATTTCTAGGCCACTTCTGGAAATGGCCCACAGTGGGGCAGGAAGGAGGCTCTAGGCCTTCCTCTTCATTTCCATGAAGCATTTGGCAAGAGGGGGCAGAGACCACAGCCTTCTCCCATGAGCAAGTCTGGAGGTGGGGCATGTCCACTGGACTGGGGAAATGGGGCAAACAGAATGGGTGGAGGTGGGCAGGCTTCTGGATATAGGGCTAGAGTTGCAGAAAGTGTCAAGCACTGGGCTTCCCACTTCATGGCTCAGGCTCCTTCATACCTCTCCTCATCCTGCCTTCCAGCTCTAGCGGGGGATGAAGAATAAAGAACAGACAAGGCAGGTGACGGGAGTGGTTTGGACGAGTAGAAAAGAGGGTTCTAGTCAGCTGGAAACCTCTCCCATTTACCTGCTCCTCAGTGGAGAAGGCAGGCAGGATGCTCTAGTGAAAGTGGGGAAGGGAACTAGAAGGAGTCGGTGGAGGGGTCCGTGCCTTTGGTAAGTCCCAAGAAAGCAGGACAATGCACCTCAGCACCTTGTCCAGGGCAGATAGGATCCAGGAGTGCCCCAAGAGTTGACAATGGAGAAGGCAATGGGGGTAAAGGGGTGAGGGGTGGGACACAGGAGGGCTCACAGAAGTAGTTTGCCATTTCTGTGGATTTTCAGGATACGGCCGAGTCTCTGCTTTGCTGTGGCCAGGCCCTTTTTGGGACGCTTTCCTGTGGGGGAAGGGAAAAGTAAGCAAGGGCTTTGGCAAGGGCTTCAACATCAAATCTGGCACCAACTGCCCTCAGGCCACCTCCCCTTCCTGTTTCTCTACCCACAAAGTTTCTCCATCCTTAGACCATATTGGGCAGGAAGCCCTCCTTAACTACTTCCAACCAACACCACATGCTTTGACTCTTCCTCCTATGACCTCCTGTAGCAGCAAGACTCCCTGATTACAGTTTGTCTAGTTCTTTTTCTCCACTGATTACTCTGGTCCCAATCATTTTCCTTCCAAGATCCTGCAGGGAGGTAAATGTACTTCCATACCCTCTTATCCTACCCACCAGGACTGGACAAGTGCCTGGTTAGTGATTAGAGCTCAGTGTCCCTGAAGTTGCCATCCCTAGGGCCTTGCTTCATTAGAAACTCTCATCTTCATCAGCCTTCAACATCACACCAACCTCCATGCCCTTGAGCTGCGTACTCTAGGGACTGGGCTTTGAGGACCAAAGTGAGGGAAAGGAAGGCTTCAGTCCTCTAACTCTTTGTTGTCTCTGTCTCCCCACATTAAATCCCCTCCCATGTCCTATTTGACTGCCTCCATATTTGATCAGTTCATCTCCTTCCTCTCCATTCCCTCTGGCAGAGCCCCAGGTACTCTTCCTGCCTGCCTGAACTTGTATATGTGCCTCCTCCCTAGAGTTCCCATCTCTAGCCCACCCTCTACCTCCTTCTGGCCACCAGAAGGATCTTTCAAAACTAAAACCTGATCTTGTCTGTACTTCAAATCAGTCAACATCTCTCCATGGCCCATAAGATCAAATCCAAGCACCTTAGGTTGGCCTTCAGTGTCCCTCCCTGGTATTGTCATCTACTAGAGCACTTAGGATTTAGGGCAGGTGGCTCTAAGATCCTTCGGTTCTACAACCATATGGCCGTTGTACCTTGTCCTGCCTGATTGCTCTGGGAGCCAACTGAAGGGCGCCGCTGGGTCAAGAAGACACCGGGGGCCATAGGTGTGGTGCTGCGGTTTGCCTGGGCCATGCCAAAGGCATTGGGACGAGCGGTGTACTCATGGTCAGCGAGACTTCCTGACAGGGCCTCTTGTTTAGGCTCAGGAGGAGGCAGGGGTGAGGAGGTGACAAGTTGTGGTGTGGCAGCCACAGTGGGGGCTGGTACTGTCAGACTGAGATTGGAGTCTTGAGGGCGAGGCTGTTCTACCTCCTTCAGCAAAGGCTTCTTCTTGATATATTTCTTCTTTTGGGCCTTCTGTAGCTCCTGAAACACAAGCCAAGTAGGAGGAGAGATTAAGGAGTGAAGAAGACAAGTTCCCAGGAAAGGAACTAACTAGACAATGTCCAATATGGTTGTGCAACCTGCCACCCTCTCCCTTACCTGCACCAAGTCTAGCCTGGATGTACACACAGCACATAACAGGCCTTCCAATACCTGAGATCATCTCTTTGTTACCATCCATCCTTAAGTCACCACTGTCACTTATTAGTACAGTGCCAAGAAAGCTGTAAATGAATTTGGAGACTAGGATTTTGGTCCTAGTGTTGCCACTAATGAGGTAGACCTTGGACACGTCTAATGATAATAACTAAATTTACATCAGCAGCTGAGACACTTTATATACTTTATCTCATTTAATCCTCATAACAGCTCTAAGAAGAAAAAATCCTAATTTTACATATGAGAAAATGGAAGTGCAGGGATATTAAGTAACTTGAGCCCAAAGCCTCACAGCTGAAAAGTAGTTGGGACCACTATCTAACCAGGTCTATCTGAAGAGACACCTTGCAAACTTCTCAAAGTGGAAAATCTGAGCGTAGAAAGATTAGAAAGATTATTAGTTTTGGAATGAGATAAATCTGGTTCAAATCCAGGCTTGTGTCCCTAAATTGGATGACTATGGTCAAACTGACTAACCTTTCTGAATCTCAGCTACCTCATCTATAAAACAGGTAAAATAATATCTGCTTTTTAGGATTTTTGAAAAGATTAAGTGATGACATAAAAATACACAGCACATAGTAGATATTCGACAAGTGGTTAATTATTATTCTATCTTCATCTCTTATAATGGCTTCACTTCCTCTTGCTGGTCTTTTTCTTTTAACAGTGGGCTTGACAATCCTCCAGGTCACTGGGTCTAAAAACCTCACTTTGGGGATGGGAATGACAAATAAGGAGTTGTGTCACTTCTCCCAATACCTTGTATTTCAACCATCCACTGCCCTATGGATCTACTATCCACTGCATGGTGGACACTTGTATAGTGGGCATCTGGAGCCCTGAGAACCTGGAAAGGTGGTGCTGAGAGCATGTAAATCACTTCACCTTCTGAAATGCTACACAGCCACACAAACCAACTCAGTGATCACATTTTTTTGCCTTCTCTTGGCAACACAAGCCTAATCCTGCCTTCGGAAGATCTCACAGGCTGTGGCTACCACGGGCATTTCTGGGGTACAATAATAACAATATTAGTAATACATGTCAACCACTCTTCTATAATTACTCATTTAATACTTGTAAATACCCAAGAAGTAAGAATTATAATCCCATTTGAAGGATGAAGAAACTGTGGCACAGAGAGGCTAAGTCATTTCCCTAAGGTTACAGGACCAGTAAGTGGTCAAACTGGGATTCACATCCAAGCCATTTGGCTTCAGAATCTCTTCCCTCAGCCAAACTGCTATTCTAACCATACCAGGAACTGCATTTCTGTCCCTTTTTCTCTCACTTAAATCCAGAATTACCTCTTCATATCTAGATCACTAGCCTAAATTTTGCTACCTTTGCTGCCAATCTCTTTCACATATAATTTATCCAGATACTCCCACAGACAACTAGACCATCTTATGACAGAACCACTTTCACCTTGCCAATCCCGTTGCTCAAAAAGCTGTTAGCAGATCCCCGCCCAAGTTCAAACTCCCTGGCCTGACATTCATGATCTTCCACAGTCTGGCTGTTTACACTTAGCCAACCCATAATGATAATGATGAAAAAAGCTAACAGGCCTATAGTACTTACTCCATAACAACTGCCATTCTAAAAGAGCTTGTACGTACATTACCTCATTTAATCCTAAAATGAAGTCTATGAGGAAATGAGGCAAAGAGAAATTAACTTGCCCAAATGGTAGAACTATTACATAATTTAAATCCNNN
|
benign
| 334,916 |
Clinical classification of chromosome X, position 54470714, gene FGD1 (FYVE, RhoGEF and PH domain containing 1): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Aarskog_syndrome', 'FGD1-related_disorder']
|
GGAGCCTTACTGCCTCTAAATTCTGGCCACAATGGTGGGATTGAACTCAGGCCCTATCACTGCCTCCTTGAAACGCACCTACAAGGTCCTGGGGCCCTCGTACCCCCAAGGGGCCACTCACCTGATCCAGGAGATGGAGCCTGGAAACGTAGGCCTTCTCAGTTTGCAGGAGCTCATTGGCAATGTGAAACACCTTTTGCTGCACAGTCAACTGGAAAGGAGAAACAGTAACCCCTGATCCATCATCCTCTATCGTAACCCTCACCCAAGCCCCCAGAATTCTTAAAACAGTTCCCATGCCACTCTAAGCCTAATACCACCCTAGGATAACCTTGACCCCCATCTCTAGATCTGTAAGTCCTTCAGCTTCATCCCTGAGTCCCCAGTCTACCATAAAGCCTACCCCTCCATTCTGATGACGTGCACTCCCTCACTCAACAACTCATTCACCCGCTCTCTCTATTCACTCAGCAGAGTGTAGTGGTTAAGCATGTGGGATGGTAAGTCAGACTTCCTGGGTTCAAATCCTAAGCTCTGCCATTCACTAGCTTGTGTAAGTTCTTTAACAGCTCTGTATTTAGGACGCCTCATCCATAAATACAGATAATAATAGAATCTATTTAATGTAGAGGCTGGTGAGAAACAAAAACAAAACCAAAACAAAATAATAATAGGACTGAAGTCCATTGGTAATGGAGACAATTAGATAATTTAATATAAATAAAACACATCAGACTACAGATTAAATGGTATATAAATGTTAATTAATCATTTATTCACCCACTCAGTACACTATCAGCAAGGGCTTGCTGAGTACCTGGGGTGTGAGAAAAGCACAAAAGTATAAGAACGTATAAAACTCATTGCCTGTTGGCCTAGTTTCCTATTCCTTAGATATATGTGTTGACTACCTGCCATGCCGGCAGTCCCTGGCTTTGGCCCCTACACTTGAGCTTGGTCCTAGCAGAGCAAGTATTCCGGCTGAGATCTAACTCAAGTGCGATGGTGCCTTCTGAAGAAATGTTAGGCTGCCCGGGCACAGAAAGGGGTCTCTGCTGCCAAGAGCCTTCATCTGCACAGCCTCGGGCCCCTGCAGGGCTCTAGCTCTTGCGCCCCTCCTCCAGCTGTTGAGAAGTCTCTATGGATGTAAGTAAGAGACTTTCCGTATTACAAATAAGGAAACTGAGGCTTATGGTAGGGAAGCAGAAAGGGAAAAGACTTGCCCAGTGTCACAGAGCTTGGAAACAAGGTCCTATTTCGAGAAATACTGAGCTAGGGGAAGAATCAAGCACAAAAGGCGCTTCCAGGTTCTCCACATGGACCTGCCTCTCGGTGAACACAGGTCAGTACCTCCACAGACTCCTGTCTCTCCATCAGGGGCACTGGGATTTCTCTGTCCTTCTCTTCCTCCTCCTCCTCGTCGTCCTCCTCCTCCAGGTCACTGTCAACCTCTTGGGAGCCAGGCCGGTGGGGGTCGGCCAAGGCAACAGGCACACTAGCCAGGGCAGGGGGCCCAGGGCAGAGGCTGTGGCTGGGGGGCCCGTCATCACTGACGAAGCAGGTCTCCTCGCTGTTGGATGGCGAGCTGATGCTATCAATGCCGCTGTCCCGGTTGGGCACCTTCTCACCGTCCCGGGGCCCAGGAGCCAGCAGAAACAGGCAGCGGGAGGCCTCACCCTCGGGGAGCTGGGGCACTGGTGGCTGCGAGGTTGGCTGTGGCAACATGACTGGCTCTGGGGGACCTGGGCTGGGGCCAGGGACTGGTCTATCCGAGGCGACAATCACAGGCTCTCTGAGGTGGGTGGTGGACACACATGGAAGCAGGGTATGAGCTTGACTGAGAGGCCTCTCCTGACTATCCCTTCCTGTCCCAGGCTCCCCCTTTCCCCTAGAGGGTGCCCTAGGGACCAGACTCACCTTTCAAACTTCTCAATCAGTGAGGATACTGCTGCAGAACTGGGGCTGGCCTCTGCCCTGGGAGCCAGGCCCTTGGCCACTCGGGGGTCGGCAGGCAGTGGGCGTGATGGTGGAGGGGGGATGGGCTCCAGTGGGGGGGGCATCCGGGGCATCTGCAGGTAGCTGGGCTTTGGGGGCACTGGAGAGACGAATGGGGAAGAGAGAAGGGAGACATCAGTGAGCTGGATTTGAGCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGATAATTGCTTGAACTCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAGCTGGATTTGGAGGTGGCTGGCTGTCATGGCCAGGCCACAACCCCTTCCACAAACACCAATCTGCACCTTTGCCTGAGGTAGACACAAAGGGGCTAAGGTGAGATCACAGTATGCACACATTAGCCTCAGGCCACAGCACTCTGTGCACTAGGTAGGTAGCACTGCCCTGGGAGCATGGTGGCTCCCTATCCTTCTAACAAACCCTCTTCTCTGCCACTGGCTAACTTCTCCCCTCCTCTGTACCCTCCCCTGGGCCACTTCTCTGCTCTTTTCCAGGACCACTTACCCTGTGGCTTCGGGCCCGGTGCCCGCTTCAGTGGTGAAGGACGCTGGCTAGGGGTTTCAGTCGGGGGACCTGGGTCTGAGCGAAGCCGCTGGGGACCTTCTGGATGAGGCTCTAGGCTTTGGCCAGGGTCAAGGGACAAACTTTTAACCAGGATCCGGTTTCCCTGGTGCAGCCCTGCAGGAAGGGAGAAAATGGGTGTGAAGTAACTGACTTTAACCCAAAGGGGACTGGGGTTAAAGTTAGGACTGGCATGTCTTAGCAGCTATCTGGGGTATTGGGTTTCTCTGAGCCCCTTTCCTGGCCACAGTGTTTTTCTGGGAAGCCCCTATCCTAGCCCTCAGATGGAGAGCCAGACCCAGGGCTGGGGCTGGCTGTTTTCATCAATAGATAAGAATTCTTTGTGACTAGTGCATTGATTCCATGTATGTCAGCAGGCAGTATCACTAGGGAGTTTAACCAGGCTGGGGGTGGCTGTGAGCACCCTAAAGTTTATACATGCGTTTGCAGCCCTTGTTTCTACAGCCACATAGGTATGCTGAGTATAAACCATTCTTCAACGCTTTTGTTAAGGCCCTGAGAATATCTAGACTTTCTTGTTTACAATTTTGTGCAGCTAAGTGTGCTTAAAAATGATGAAATTGTGTTTCATGAGCAAGTTTTGCTTCTTGAAATCCCAACTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAAGCTGAGAAGGGAGGATTGCTTGAGCTCAGGAATTTGAGATGAGTTTGGGCAACAAAGTGAGACCCTGTCTCTACAAAAAATATAAAAGTTAGCTGGGCAGTGTGGTGTGCACCTGTATTCCCAGATACTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCTGGGAGGTGGAGGTTGCAGGGAGCTGAGATCACCCCACTGCACTCCAGCCTGGACAAAAGAGCAAGACGCTGTCTCAAGAAAAAAAAAAAAAAGAAGAAAAATGAAAAAGAAAATCCCAACTTCTCAGCAATCTGTACTACCTTCCTCAACTTCCACATCTACACAGACCCACATGCATCTTCCACCTCTGCCACACACACACGTGCAACATCCAGAGTTCAGGTCACAGGAATAACTTTAAATCAAGCAGCCAGTTCAGAAAAAGGGGAGGCCTTTTTATACTGTCCCTCTTCCCTCACTGTATGTCCCCTAAAGCCACCTCTATCTTTGGCTCTAGAGGAGATGATGGTCATGCTTAGGAGAGAGGATTTGGTCTGGGAGGCAGTGAGGGACCCCCACCCCAGGGATGGCATGCCCCAAGGAAAGGAATGTGGGGCTCATGTGGTCCTGGCTGGGCAGGGGGCTGTGGGAGTGCCTCAAATGATAGAGAAGTCAGGTGGGGCCAGAGAGGAGTGGGAAAGGCCTTGGATGCTAGGCTGACATTCATCCTGTAGCAGAA
|
GGAGCCTTACTGCCTCTAAATTCTGGCCACAATGGTGGGATTGAACTCAGGCCCTATCACTGCCTCCTTGAAACGCACCTACAAGGTCCTGGGGCCCTCGTACCCCCAAGGGGCCACTCACCTGATCCAGGAGATGGAGCCTGGAAACGTAGGCCTTCTCAGTTTGCAGGAGCTCATTGGCAATGTGAAACACCTTTTGCTGCACAGTCAACTGGAAAGGAGAAACAGTAACCCCTGATCCATCATCCTCTATCGTAACCCTCACCCAAGCCCCCAGAATTCTTAAAACAGTTCCCATGCCACTCTAAGCCTAATACCACCCTAGGATAACCTTGACCCCCATCTCTAGATCTGTAAGTCCTTCAGCTTCATCCCTGAGTCCCCAGTCTACCATAAAGCCTACCCCTCCATTCTGATGACGTGCACTCCCTCACTCAACAACTCATTCACCCGCTCTCTCTATTCACTCAGCAGAGTGTAGTGGTTAAGCATGTGGGATGGTAAGTCAGACTTCCTGGGTTCAAATCCTAAGCTCTGCCATTCACTAGCTTGTGTAAGTTCTTTAACAGCTCTGTATTTAGGACGCCTCATCCATAAATACAGATAATAATAGAATCTATTTAATGTAGAGGCTGGTGAGAAACAAAAACAAAACCAAAACAAAATAATAATAGGACTGAAGTCCATTGGTAATGGAGACAATTAGATAATTTAATATAAATAAAACACATCAGACTACAGATTAAATGGTATATAAATGTTAATTAATCATTTATTCACCCACTCAGTACACTATCAGCAAGGGCTTGCTGAGTACCTGGGGTGTGAGAAAAGCACAAAAGTATAAGAACGTATAAAACTCATTGCCTGTTGGCCTAGTTTCCTATTCCTTAGATATATGTGTTGACTACCTGCCATGCCGGCAGTCCCTGGCTTTGGCCCCTACACTTGAGCTTGGTCCTAGCAGAGCAAGTATTCCGGCTGAGATCTAACTCAAGTGCGATGGTGCCTTCTGAAGAAATGTTAGGCTGCCCGGGCACAGAAAGGGGTCTCTGCTGCCAAGAGCCTTCATCTGCACAGCCTCGGGCCCCTGCAGGGCTCTAGCTCTTGCGCCCCTCCTCCAGCTGTTGAGAAGTCTCTATGGATGTAAGTAAGAGACTTTCCGTATTACAAATAAGGAAACTGAGGCTTATGGTAGGGAAGCAGAAAGGGAAAAGACTTGCCCAGTGTCACAGAGCTTGGAAACAAGGTCCTATTTCGAGAAATACTGAGCTAGGGGAAGAATCAAGCACAAAAGGCGCTTCCAGGTTCTCCACATGGACCTGCCTCTCGGTGAACACAGGTCAGTACCTCCACAGACTCCTGTCTCTCCATCAGGGGCACTGGGATTTCTCTGTCCTTCTCTTCCTCCTCCTCCTCGTCGTCCTCCTCCTCCAGGTCACTGTCAACCTCTTGGGAGCCAGGCCGGTGGGGGTCGGCCAAGGCAACAGGCACACTAGCCAGGGCAGGGGGCCCAGGGCAGAGGCTGTGGCTGGGGGGCCCGTCATCACTGACGAAGCAGGTCTCCTCGCTGTTGGATGGCGAGCTGATGCTATCAATGCCGCTGTCCCGGTTGGGCACCTTCTCACCGTCCCGGGGCCCAGGAGCCAGCAGAAACAGGCAGCGGGAGGCCTCACCCTCGGGGAGCTGGGGCACTGGTGGCTGCGAGGTTGGCTGTGGCAACATGACTGGCTCTGGGGGACCTGGGCTGGGGCCAGGGACTGGTCTATCCGAGGCGACAATCACAGGCTCTCTGAGGTGGGTGGTGGACACACATGGAAGCAGGGTATGAGCTTGACTGAGAGGCCTCTCCTGACTATCCCTTCCTGTCCCAGGCTCCCCCTTTCCCCTAGAGGGTGCCCTAGGGACCAGACTCACCTTTCAAACTTCTCAATCAGTGAGGATACTGCTGCAGAACTGGGGCTGGCCTCTGCCCTGGGAGCCAGGCCCTTGGCCACTCGGGGGTCGGCAGGCAGTGGGCGTGATGGTGGAGGGGGGATGGGCTCCAGTGGGGGGGGGCATCCGGGGCATCTGCAGGTAGCTGGGCTTTGGGGGCACTGGAGAGACGAATGGGGAAGAGAGAAGGGAGACATCAGTGAGCTGGATTTGAGCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGATAATTGCTTGAACTCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAGCTGGATTTGGAGGTGGCTGGCTGTCATGGCCAGGCCACAACCCCTTCCACAAACACCAATCTGCACCTTTGCCTGAGGTAGACACAAAGGGGCTAAGGTGAGATCACAGTATGCACACATTAGCCTCAGGCCACAGCACTCTGTGCACTAGGTAGGTAGCACTGCCCTGGGAGCATGGTGGCTCCCTATCCTTCTAACAAACCCTCTTCTCTGCCACTGGCTAACTTCTCCCCTCCTCTGTACCCTCCCCTGGGCCACTTCTCTGCTCTTTTCCAGGACCACTTACCCTGTGGCTTCGGGCCCGGTGCCCGCTTCAGTGGTGAAGGACGCTGGCTAGGGGTTTCAGTCGGGGGACCTGGGTCTGAGCGAAGCCGCTGGGGACCTTCTGGATGAGGCTCTAGGCTTTGGCCAGGGTCAAGGGACAAACTTTTAACCAGGATCCGGTTTCCCTGGTGCAGCCCTGCAGGAAGGGAGAAAATGGGTGTGAAGTAACTGACTTTAACCCAAAGGGGACTGGGGTTAAAGTTAGGACTGGCATGTCTTAGCAGCTATCTGGGGTATTGGGTTTCTCTGAGCCCCTTTCCTGGCCACAGTGTTTTTCTGGGAAGCCCCTATCCTAGCCCTCAGATGGAGAGCCAGACCCAGGGCTGGGGCTGGCTGTTTTCATCAATAGATAAGAATTCTTTGTGACTAGTGCATTGATTCCATGTATGTCAGCAGGCAGTATCACTAGGGAGTTTAACCAGGCTGGGGGTGGCTGTGAGCACCCTAAAGTTTATACATGCGTTTGCAGCCCTTGTTTCTACAGCCACATAGGTATGCTGAGTATAAACCATTCTTCAACGCTTTTGTTAAGGCCCTGAGAATATCTAGACTTTCTTGTTTACAATTTTGTGCAGCTAAGTGTGCTTAAAAATGATGAAATTGTGTTTCATGAGCAAGTTTTGCTTCTTGAAATCCCAACTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAAGCTGAGAAGGGAGGATTGCTTGAGCTCAGGAATTTGAGATGAGTTTGGGCAACAAAGTGAGACCCTGTCTCTACAAAAAATATAAAAGTTAGCTGGGCAGTGTGGTGTGCACCTGTATTCCCAGATACTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCTGGGAGGTGGAGGTTGCAGGGAGCTGAGATCACCCCACTGCACTCCAGCCTGGACAAAAGAGCAAGACGCTGTCTCAAGAAAAAAAAAAAAAAGAAGAAAAATGAAAAAGAAAATCCCAACTTCTCAGCAATCTGTACTACCTTCCTCAACTTCCACATCTACACAGACCCACATGCATCTTCCACCTCTGCCACACACACACGTGCAACATCCAGAGTTCAGGTCACAGGAATAACTTTAAATCAAGCAGCCAGTTCAGAAAAAGGGGAGGCCTTTTTATACTGTCCCTCTTCCCTCACTGTATGTCCCCTAAAGCCACCTCTATCTTTGGCTCTAGAGGAGATGATGGTCATGCTTAGGAGAGAGGATTTGGTCTGGGAGGCAGTGAGGGACCCCCACCCCAGGGATGGCATGCCCCAAGGAAAGGAATGTGGGGCTCATGTGGTCCTGGCTGGGCAGGGGGCTGTGGGAGTGCCTCAAATGATAGAGAAGTCAGGTGGGGCCAGAGAGGAGTGGGAAAGGCCTTGGATGCTAGGCTGACATTCATCCTGTAGCAGA
|
pathogenic
| 334,981 |
Located at chromosome X position 54470714, the variant affecting gene FGD1 (FYVE, RhoGEF and PH domain containing 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Aarskog_syndrome', 'Inborn_genetic_diseases']
|
GGAGCCTTACTGCCTCTAAATTCTGGCCACAATGGTGGGATTGAACTCAGGCCCTATCACTGCCTCCTTGAAACGCACCTACAAGGTCCTGGGGCCCTCGTACCCCCAAGGGGCCACTCACCTGATCCAGGAGATGGAGCCTGGAAACGTAGGCCTTCTCAGTTTGCAGGAGCTCATTGGCAATGTGAAACACCTTTTGCTGCACAGTCAACTGGAAAGGAGAAACAGTAACCCCTGATCCATCATCCTCTATCGTAACCCTCACCCAAGCCCCCAGAATTCTTAAAACAGTTCCCATGCCACTCTAAGCCTAATACCACCCTAGGATAACCTTGACCCCCATCTCTAGATCTGTAAGTCCTTCAGCTTCATCCCTGAGTCCCCAGTCTACCATAAAGCCTACCCCTCCATTCTGATGACGTGCACTCCCTCACTCAACAACTCATTCACCCGCTCTCTCTATTCACTCAGCAGAGTGTAGTGGTTAAGCATGTGGGATGGTAAGTCAGACTTCCTGGGTTCAAATCCTAAGCTCTGCCATTCACTAGCTTGTGTAAGTTCTTTAACAGCTCTGTATTTAGGACGCCTCATCCATAAATACAGATAATAATAGAATCTATTTAATGTAGAGGCTGGTGAGAAACAAAAACAAAACCAAAACAAAATAATAATAGGACTGAAGTCCATTGGTAATGGAGACAATTAGATAATTTAATATAAATAAAACACATCAGACTACAGATTAAATGGTATATAAATGTTAATTAATCATTTATTCACCCACTCAGTACACTATCAGCAAGGGCTTGCTGAGTACCTGGGGTGTGAGAAAAGCACAAAAGTATAAGAACGTATAAAACTCATTGCCTGTTGGCCTAGTTTCCTATTCCTTAGATATATGTGTTGACTACCTGCCATGCCGGCAGTCCCTGGCTTTGGCCCCTACACTTGAGCTTGGTCCTAGCAGAGCAAGTATTCCGGCTGAGATCTAACTCAAGTGCGATGGTGCCTTCTGAAGAAATGTTAGGCTGCCCGGGCACAGAAAGGGGTCTCTGCTGCCAAGAGCCTTCATCTGCACAGCCTCGGGCCCCTGCAGGGCTCTAGCTCTTGCGCCCCTCCTCCAGCTGTTGAGAAGTCTCTATGGATGTAAGTAAGAGACTTTCCGTATTACAAATAAGGAAACTGAGGCTTATGGTAGGGAAGCAGAAAGGGAAAAGACTTGCCCAGTGTCACAGAGCTTGGAAACAAGGTCCTATTTCGAGAAATACTGAGCTAGGGGAAGAATCAAGCACAAAAGGCGCTTCCAGGTTCTCCACATGGACCTGCCTCTCGGTGAACACAGGTCAGTACCTCCACAGACTCCTGTCTCTCCATCAGGGGCACTGGGATTTCTCTGTCCTTCTCTTCCTCCTCCTCCTCGTCGTCCTCCTCCTCCAGGTCACTGTCAACCTCTTGGGAGCCAGGCCGGTGGGGGTCGGCCAAGGCAACAGGCACACTAGCCAGGGCAGGGGGCCCAGGGCAGAGGCTGTGGCTGGGGGGCCCGTCATCACTGACGAAGCAGGTCTCCTCGCTGTTGGATGGCGAGCTGATGCTATCAATGCCGCTGTCCCGGTTGGGCACCTTCTCACCGTCCCGGGGCCCAGGAGCCAGCAGAAACAGGCAGCGGGAGGCCTCACCCTCGGGGAGCTGGGGCACTGGTGGCTGCGAGGTTGGCTGTGGCAACATGACTGGCTCTGGGGGACCTGGGCTGGGGCCAGGGACTGGTCTATCCGAGGCGACAATCACAGGCTCTCTGAGGTGGGTGGTGGACACACATGGAAGCAGGGTATGAGCTTGACTGAGAGGCCTCTCCTGACTATCCCTTCCTGTCCCAGGCTCCCCCTTTCCCCTAGAGGGTGCCCTAGGGACCAGACTCACCTTTCAAACTTCTCAATCAGTGAGGATACTGCTGCAGAACTGGGGCTGGCCTCTGCCCTGGGAGCCAGGCCCTTGGCCACTCGGGGGTCGGCAGGCAGTGGGCGTGATGGTGGAGGGGGGATGGGCTCCAGTGGGGGGGGCATCCGGGGCATCTGCAGGTAGCTGGGCTTTGGGGGCACTGGAGAGACGAATGGGGAAGAGAGAAGGGAGACATCAGTGAGCTGGATTTGAGCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGATAATTGCTTGAACTCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAGCTGGATTTGGAGGTGGCTGGCTGTCATGGCCAGGCCACAACCCCTTCCACAAACACCAATCTGCACCTTTGCCTGAGGTAGACACAAAGGGGCTAAGGTGAGATCACAGTATGCACACATTAGCCTCAGGCCACAGCACTCTGTGCACTAGGTAGGTAGCACTGCCCTGGGAGCATGGTGGCTCCCTATCCTTCTAACAAACCCTCTTCTCTGCCACTGGCTAACTTCTCCCCTCCTCTGTACCCTCCCCTGGGCCACTTCTCTGCTCTTTTCCAGGACCACTTACCCTGTGGCTTCGGGCCCGGTGCCCGCTTCAGTGGTGAAGGACGCTGGCTAGGGGTTTCAGTCGGGGGACCTGGGTCTGAGCGAAGCCGCTGGGGACCTTCTGGATGAGGCTCTAGGCTTTGGCCAGGGTCAAGGGACAAACTTTTAACCAGGATCCGGTTTCCCTGGTGCAGCCCTGCAGGAAGGGAGAAAATGGGTGTGAAGTAACTGACTTTAACCCAAAGGGGACTGGGGTTAAAGTTAGGACTGGCATGTCTTAGCAGCTATCTGGGGTATTGGGTTTCTCTGAGCCCCTTTCCTGGCCACAGTGTTTTTCTGGGAAGCCCCTATCCTAGCCCTCAGATGGAGAGCCAGACCCAGGGCTGGGGCTGGCTGTTTTCATCAATAGATAAGAATTCTTTGTGACTAGTGCATTGATTCCATGTATGTCAGCAGGCAGTATCACTAGGGAGTTTAACCAGGCTGGGGGTGGCTGTGAGCACCCTAAAGTTTATACATGCGTTTGCAGCCCTTGTTTCTACAGCCACATAGGTATGCTGAGTATAAACCATTCTTCAACGCTTTTGTTAAGGCCCTGAGAATATCTAGACTTTCTTGTTTACAATTTTGTGCAGCTAAGTGTGCTTAAAAATGATGAAATTGTGTTTCATGAGCAAGTTTTGCTTCTTGAAATCCCAACTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAAGCTGAGAAGGGAGGATTGCTTGAGCTCAGGAATTTGAGATGAGTTTGGGCAACAAAGTGAGACCCTGTCTCTACAAAAAATATAAAAGTTAGCTGGGCAGTGTGGTGTGCACCTGTATTCCCAGATACTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCTGGGAGGTGGAGGTTGCAGGGAGCTGAGATCACCCCACTGCACTCCAGCCTGGACAAAAGAGCAAGACGCTGTCTCAAGAAAAAAAAAAAAAAGAAGAAAAATGAAAAAGAAAATCCCAACTTCTCAGCAATCTGTACTACCTTCCTCAACTTCCACATCTACACAGACCCACATGCATCTTCCACCTCTGCCACACACACACGTGCAACATCCAGAGTTCAGGTCACAGGAATAACTTTAAATCAAGCAGCCAGTTCAGAAAAAGGGGAGGCCTTTTTATACTGTCCCTCTTCCCTCACTGTATGTCCCCTAAAGCCACCTCTATCTTTGGCTCTAGAGGAGATGATGGTCATGCTTAGGAGAGAGGATTTGGTCTGGGAGGCAGTGAGGGACCCCCACCCCAGGGATGGCATGCCCCAAGGAAAGGAATGTGGGGCTCATGTGGTCCTGGCTGGGCAGGGGGCTGTGGGAGTGCCTCAAATGATAGAGAAGTCAGGTGGGGCCAGAGAGGAGTGGGAAAGGCCTTGGATGCTAGGCTGACATTCATCCTGTAGCAGAA
|
GGAGCCTTACTGCCTCTAAATTCTGGCCACAATGGTGGGATTGAACTCAGGCCCTATCACTGCCTCCTTGAAACGCACCTACAAGGTCCTGGGGCCCTCGTACCCCCAAGGGGCCACTCACCTGATCCAGGAGATGGAGCCTGGAAACGTAGGCCTTCTCAGTTTGCAGGAGCTCATTGGCAATGTGAAACACCTTTTGCTGCACAGTCAACTGGAAAGGAGAAACAGTAACCCCTGATCCATCATCCTCTATCGTAACCCTCACCCAAGCCCCCAGAATTCTTAAAACAGTTCCCATGCCACTCTAAGCCTAATACCACCCTAGGATAACCTTGACCCCCATCTCTAGATCTGTAAGTCCTTCAGCTTCATCCCTGAGTCCCCAGTCTACCATAAAGCCTACCCCTCCATTCTGATGACGTGCACTCCCTCACTCAACAACTCATTCACCCGCTCTCTCTATTCACTCAGCAGAGTGTAGTGGTTAAGCATGTGGGATGGTAAGTCAGACTTCCTGGGTTCAAATCCTAAGCTCTGCCATTCACTAGCTTGTGTAAGTTCTTTAACAGCTCTGTATTTAGGACGCCTCATCCATAAATACAGATAATAATAGAATCTATTTAATGTAGAGGCTGGTGAGAAACAAAAACAAAACCAAAACAAAATAATAATAGGACTGAAGTCCATTGGTAATGGAGACAATTAGATAATTTAATATAAATAAAACACATCAGACTACAGATTAAATGGTATATAAATGTTAATTAATCATTTATTCACCCACTCAGTACACTATCAGCAAGGGCTTGCTGAGTACCTGGGGTGTGAGAAAAGCACAAAAGTATAAGAACGTATAAAACTCATTGCCTGTTGGCCTAGTTTCCTATTCCTTAGATATATGTGTTGACTACCTGCCATGCCGGCAGTCCCTGGCTTTGGCCCCTACACTTGAGCTTGGTCCTAGCAGAGCAAGTATTCCGGCTGAGATCTAACTCAAGTGCGATGGTGCCTTCTGAAGAAATGTTAGGCTGCCCGGGCACAGAAAGGGGTCTCTGCTGCCAAGAGCCTTCATCTGCACAGCCTCGGGCCCCTGCAGGGCTCTAGCTCTTGCGCCCCTCCTCCAGCTGTTGAGAAGTCTCTATGGATGTAAGTAAGAGACTTTCCGTATTACAAATAAGGAAACTGAGGCTTATGGTAGGGAAGCAGAAAGGGAAAAGACTTGCCCAGTGTCACAGAGCTTGGAAACAAGGTCCTATTTCGAGAAATACTGAGCTAGGGGAAGAATCAAGCACAAAAGGCGCTTCCAGGTTCTCCACATGGACCTGCCTCTCGGTGAACACAGGTCAGTACCTCCACAGACTCCTGTCTCTCCATCAGGGGCACTGGGATTTCTCTGTCCTTCTCTTCCTCCTCCTCCTCGTCGTCCTCCTCCTCCAGGTCACTGTCAACCTCTTGGGAGCCAGGCCGGTGGGGGTCGGCCAAGGCAACAGGCACACTAGCCAGGGCAGGGGGCCCAGGGCAGAGGCTGTGGCTGGGGGGCCCGTCATCACTGACGAAGCAGGTCTCCTCGCTGTTGGATGGCGAGCTGATGCTATCAATGCCGCTGTCCCGGTTGGGCACCTTCTCACCGTCCCGGGGCCCAGGAGCCAGCAGAAACAGGCAGCGGGAGGCCTCACCCTCGGGGAGCTGGGGCACTGGTGGCTGCGAGGTTGGCTGTGGCAACATGACTGGCTCTGGGGGACCTGGGCTGGGGCCAGGGACTGGTCTATCCGAGGCGACAATCACAGGCTCTCTGAGGTGGGTGGTGGACACACATGGAAGCAGGGTATGAGCTTGACTGAGAGGCCTCTCCTGACTATCCCTTCCTGTCCCAGGCTCCCCCTTTCCCCTAGAGGGTGCCCTAGGGACCAGACTCACCTTTCAAACTTCTCAATCAGTGAGGATACTGCTGCAGAACTGGGGCTGGCCTCTGCCCTGGGAGCCAGGCCCTTGGCCACTCGGGGGTCGGCAGGCAGTGGGCGTGATGGTGGAGGGGGGATGGGCTCCAGTGGGGGGGCATCCGGGGCATCTGCAGGTAGCTGGGCTTTGGGGGCACTGGAGAGACGAATGGGGAAGAGAGAAGGGAGACATCAGTGAGCTGGATTTGAGCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGATAATTGCTTGAACTCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAGCTGGATTTGGAGGTGGCTGGCTGTCATGGCCAGGCCACAACCCCTTCCACAAACACCAATCTGCACCTTTGCCTGAGGTAGACACAAAGGGGCTAAGGTGAGATCACAGTATGCACACATTAGCCTCAGGCCACAGCACTCTGTGCACTAGGTAGGTAGCACTGCCCTGGGAGCATGGTGGCTCCCTATCCTTCTAACAAACCCTCTTCTCTGCCACTGGCTAACTTCTCCCCTCCTCTGTACCCTCCCCTGGGCCACTTCTCTGCTCTTTTCCAGGACCACTTACCCTGTGGCTTCGGGCCCGGTGCCCGCTTCAGTGGTGAAGGACGCTGGCTAGGGGTTTCAGTCGGGGGACCTGGGTCTGAGCGAAGCCGCTGGGGACCTTCTGGATGAGGCTCTAGGCTTTGGCCAGGGTCAAGGGACAAACTTTTAACCAGGATCCGGTTTCCCTGGTGCAGCCCTGCAGGAAGGGAGAAAATGGGTGTGAAGTAACTGACTTTAACCCAAAGGGGACTGGGGTTAAAGTTAGGACTGGCATGTCTTAGCAGCTATCTGGGGTATTGGGTTTCTCTGAGCCCCTTTCCTGGCCACAGTGTTTTTCTGGGAAGCCCCTATCCTAGCCCTCAGATGGAGAGCCAGACCCAGGGCTGGGGCTGGCTGTTTTCATCAATAGATAAGAATTCTTTGTGACTAGTGCATTGATTCCATGTATGTCAGCAGGCAGTATCACTAGGGAGTTTAACCAGGCTGGGGGTGGCTGTGAGCACCCTAAAGTTTATACATGCGTTTGCAGCCCTTGTTTCTACAGCCACATAGGTATGCTGAGTATAAACCATTCTTCAACGCTTTTGTTAAGGCCCTGAGAATATCTAGACTTTCTTGTTTACAATTTTGTGCAGCTAAGTGTGCTTAAAAATGATGAAATTGTGTTTCATGAGCAAGTTTTGCTTCTTGAAATCCCAACTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAAGCTGAGAAGGGAGGATTGCTTGAGCTCAGGAATTTGAGATGAGTTTGGGCAACAAAGTGAGACCCTGTCTCTACAAAAAATATAAAAGTTAGCTGGGCAGTGTGGTGTGCACCTGTATTCCCAGATACTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCTGGGAGGTGGAGGTTGCAGGGAGCTGAGATCACCCCACTGCACTCCAGCCTGGACAAAAGAGCAAGACGCTGTCTCAAGAAAAAAAAAAAAAAGAAGAAAAATGAAAAAGAAAATCCCAACTTCTCAGCAATCTGTACTACCTTCCTCAACTTCCACATCTACACAGACCCACATGCATCTTCCACCTCTGCCACACACACACGTGCAACATCCAGAGTTCAGGTCACAGGAATAACTTTAAATCAAGCAGCCAGTTCAGAAAAAGGGGAGGCCTTTTTATACTGTCCCTCTTCCCTCACTGTATGTCCCCTAAAGCCACCTCTATCTTTGGCTCTAGAGGAGATGATGGTCATGCTTAGGAGAGAGGATTTGGTCTGGGAGGCAGTGAGGGACCCCCACCCCAGGGATGGCATGCCCCAAGGAAAGGAATGTGGGGCTCATGTGGTCCTGGCTGGGCAGGGGGCTGTGGGAGTGCCTCAAATGATAGAGAAGTCAGGTGGGGCCAGAGAGGAGTGGGAAAGGCCTTGGATGCTAGGCTGACATTCATCCTGTAGCAGAAN
|
pathogenic
| 334,982 |
Mutation found at chromosome X position 54495155, gene FGD1 (FYVE, RhoGEF and PH domain containing 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Aarskog_syndrome']
|
TACAGAGGCCAGAGACTGGGGGTCTAGACATTGCCCAGCTACTGACTTTCAGATCAAGAGTATCCAGAGGGCAGGAATTTGGTGTCCTTCTTTTAGGCAATAGTTACTGAGGGCCTACTATGTGCTTCTTTAGTATCTGTTTAGGCATTTATTTAATGAGGATTTCTTGAACACCTACTGCGTGTTAGGCACTGCGCTAGTTGCTGGGGATACAACAGTGAGCAAAAGAGATATAATCGCCTTGCCCCCATGGAGCTCACATTCTAGTAGAGGAAGATAGGCAATAAACGAGTAGACACATACAATAAGATAATTTCAGATTGTACTAAGTGCAAAGATGGAAGCACACTCACAGTCTCTGATGGAGACTCACAAGTGGCCCTACCTAAAGTGGTTAGGGACAGTCTCTTGGAAGAGGTGACATTTGACCTGAGACATGCAAGACGAGGAGCAAGCCAGGTGGAGGGCTAGGGGAAGAGCTTCCAGCCAGAAGGAAAAGCCAATGCAAAAGTCCTGGGGTGGGAGTGCTTGTGGCCTGTTTTGGCAGCTGCAAAAAGGCACTGGCTTTACACAGTGTCAAGGGGAGTTTGGAAAGCCAGCAGAAGTAACATGCAGGCCAAGGTGTTAAGGGCCTGTTGCCAGCTGGTTATCTTCAGCCCACACTGAGGGAGCCCCCTGAAATCTCCCAGAGGTTCCATGACTAGCCCAAGGTCATGAAGGCACCAAAAGGCACATCCTACCCATGCTTTATACTTCACTACTGCTACCTGGTGCAAGGCCACGGTCCCAGAGATCTGTGGAGCCTGAGGTGTGAACCCGGGAGCCCCCAAGGGCTTAACAACTCCTTCAGTCCCAGTGGAAGGCAGGGCAGATGTGCGCTGCTCTTCTTCTGTGGCTCCTGGGCTCAGGCCCGTATGAGAATGTCCCCAGATGGGGAAGGTCCTGCTGTGCTCCTCAGACACTCAGGTCTGTGTAGCACAAAGGCAGTGGTCTGTGGCCTCAGCCTGACTTAAAGCTGCTCCACCTTTTCAAATCCAAGAAACCATCCTGATTTCACATCACAACCAACCTCGTGGACCTGCAGCTCTCCAGCTCCTGCTACAACTGGCTTCTGCCTCTGTTGGCTTTTCTGCTGTCTCCCTACCTATCAGCCCCTCCAGCCTTCTCCTCTAGCCTGACTCCCAAGGCCCACCTCTTCCACCTTTCTCTCTCAGCACCTTCTACTCCTTCCTTCCCTTGTTCTCCCGCCACACACACCTGGCAAAATCTCAACCTTGGATCAATCCACCGTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTCCGCTCATACTCCAGGGCTGCTGAATAGTACAGGAGAAAATCACATAAGCAGAAGGCTTGGCATTACTTTCATGGTCTCCAGCCTCAGTTTGGGGAAGCAGAAAGACCACAGACTTTGGACACAAACAGATCTGGTTTGAATCGTGGCTCCATACTAGCTGTGTGACCTTGGGCAAGTTGCTTAACTTCTCTGAGCTTCAGTTTCCTTCCCTACAAAATGGGACTAATGGTATCTACTTCATGAGGGTTCCTGAAGCTGAAATGAAAATCCATGTAAAGCACCCAGTCCAGTGCCTGGTACAATGTAGGCGCTTGGCAAATGTAAGGCTCCTTTTTTTCTTCTGTTCTCCAAACGAAACCCTGGTTTCCCCAACCAAATATCCAAGGATTGCTGCCTTGCAATCCTCCCTCTTTTTCTCGCGAGTGCTCCCTCTCCCATTAGCCTCAGCAGACAGAGGAGAAGGGGGTTGGAGAGGTTGAGGGGCACAAGGGACAGAGAGAGGAGATGGGGACAGAGGTTGAAAGGACTGGACATAAGGCCAAGGGACGTGGGGAGGAGGAGGGGTTTGAGGGAACCCAAAGGGCCGAGGTAAGCGAGCCTGTTCCGAGGTGGGGCTTAGAGGGCTCGAGAACAAGAACCCGCTCCCAGTACCAGGCCCGTGGCCCGGGCTCCCATGCTCTCTCAGTCGCTCACTCACCAGGCCGAGGCTGCGAGCCCTCCAGGTGGTAAGAGAAGCGCAGGGCCCGGTGGTGCTGTGGACTGGGACCGCAGGGCAAGACCCGGTGGCCTGGAGCAGCGCCCAGGCTGGTGTCCGAGGGTCCGACAAACTGGGGATCCAGTGGGCCGCCAAGAGCCGAACCTGAGCCCCTGCGCGCCAGCAGTCCGGGTTCCGAGGCTCCAGGGTCCGAGTCGGCACAGGCCGGCGGAGCGGCGCCCGGCGGGTTCGTGGCCGGGTGTTCGGGCTCCGAAGGCCCGGCGCCCCCCGGGGCTCGGTGGCCATGCATGGTCCGGGCCTGGGCGCGGGGCCCGAGCTCCCCGCTTGGCTCCAGCTCCTGGGGCGGAGGCGCGGGCGGAGGAGGCCCGGCGCCCGGCGGAGCAGCGGCCTCAGGATCGGGGGGCGGGACTGCGGGCTCAGCCCCACTGCAGAGACTCAAGCCCCCAGCCCGGGCCCGGGCCAGCAGCCGTGGCAGCGGTGGCAGTAGCAGCAGCAGCAGCCGCGGCCACCGCCGCTGCCGTGCCAGGCATCGCCGGCCCCGGCCCCGGCCCCGCGCGGGGAGTGGGCTCGGCGGGGCCGGGGGCCCGCTGGGGAGCGCTGTCTATGCGGCTGCGGTTGGGCGAGGGTTGGAGGGCTACGCTCGGCGGGGACTCTCCGGTGGACGGCGAGCCACTTCCGTGGCCCCGGGGCGAGAAGTCGGTCGGATCCAAGTGCGGGGTCTCTTCTTTCTCCCCGAATGGGAATAGATCTGGGCTCTCCTGGCTGGTTGGGAAGCGTTCTTCCTCCCGCCGCAGCCGAGGCCGGGGGCGGAGGAGAGGGGAGGGGAGAGGAGGGGAGGGAAGAGAGAACGGCGGTGGCCGGGGGCGCGCGTGTGCGCTGCGCTTGGGCTGCGGGGCTCGCCTTCAGCCAGTAGTCCCAGACGATGCTCCAGCCGCGGGGGCAGGAGAACGGCCTGGGCCGGGCTCCACCGTCCTCCCCAGCTTCAGCCTGGGTCTCGGCGGCGGCGGGCGGGAAGGAGCCCTGGGAAGGGGGGTGGGGAGGCGGGAGCCTCGCAGAGGCAGCCGCAGCCACAGCGGCACTGGGACCCAGTTACCGGGGCCCCGCCCCCTCGCCCGGGATTTGCGCCTGACCACGCCCCCTCGCTCGGGGCCGCCTCACTTCTCGCTGCTACCGCTCTCAAGGCCCTCCTGCCCCTTAAAAAATTCCCCCTCAGCCTGCTTTCCCCACAGGCAAGTCTCCGGGCTCAACCCCCTCCCCCCATATCTGCCCTTCCATCCCATCTCAGGTCTTCCCCCCTCTGCTTGCCGTTCACTCTCTTTTCCAAAACCCTTTCTTCATGTTCCTGAGTGTTCCTAGGGCTTGGCTCATAGAGGACCTGTCTCTGATTCTCCTTCACTTTGCTCAGACCAGATATCTTGGTCCCTTACTTAGTCACTTTCTTAAATACCCTCAGTTCCCTGATTTGTCGCATCCGCCTGGCAACATCCCAGTCTTGAATCGGTCCAACTGTCCGCCTTTTCCATGCCTGCGCCCAGGCAGCTAAACATTGCTGGGGAAAACTATTCAACTTCACAGATTTGTGCCACTATAAACCCATGGTTCCCAGCTTCTACCAGGCCCTCAGTTTTGACCCACAACCCTACTAGTCAGCTCTCCCTCTGTTCTCCACAGTGACCATTTCAAACCTTCTCCTTTCCCCTCAAACCCCAAGTGCTCCATCTGCCCTGTAACCCTCAGCAAATAACCTGACCTGCTGCAGAGAGTAAACAGAGCCACCGTAGAGGAAGCTCTTGACTTTTTGCTACGAAGCCTAGGAATTTGTCCTTGCTCCTTCCCAACAGCATCTAAACATAGACCTCTTCCATCTAAAAACAAATAAACAATTACCAAGAATTCTGCCTCTCCAACCACCTCCTTCTCTTCTCTTCTACAAACTTCTCAAAAGAGTTGCCTACACCCAACTGTCTTCATTTTCCCACCTCCCACTTATCTTTCAACCCACTCCAATCTGCCTCCACTACTTGCTTGAAACTGCTCTCTCTCATCAGGGTCTGCCATG
|
TACAGAGGCCAGAGACTGGGGGTCTAGACATTGCCCAGCTACTGACTTTCAGATCAAGAGTATCCAGAGGGCAGGAATTTGGTGTCCTTCTTTTAGGCAATAGTTACTGAGGGCCTACTATGTGCTTCTTTAGTATCTGTTTAGGCATTTATTTAATGAGGATTTCTTGAACACCTACTGCGTGTTAGGCACTGCGCTAGTTGCTGGGGATACAACAGTGAGCAAAAGAGATATAATCGCCTTGCCCCCATGGAGCTCACATTCTAGTAGAGGAAGATAGGCAATAAACGAGTAGACACATACAATAAGATAATTTCAGATTGTACTAAGTGCAAAGATGGAAGCACACTCACAGTCTCTGATGGAGACTCACAAGTGGCCCTACCTAAAGTGGTTAGGGACAGTCTCTTGGAAGAGGTGACATTTGACCTGAGACATGCAAGACGAGGAGCAAGCCAGGTGGAGGGCTAGGGGAAGAGCTTCCAGCCAGAAGGAAAAGCCAATGCAAAAGTCCTGGGGTGGGAGTGCTTGTGGCCTGTTTTGGCAGCTGCAAAAAGGCACTGGCTTTACACAGTGTCAAGGGGAGTTTGGAAAGCCAGCAGAAGTAACATGCAGGCCAAGGTGTTAAGGGCCTGTTGCCAGCTGGTTATCTTCAGCCCACACTGAGGGAGCCCCCTGAAATCTCCCAGAGGTTCCATGACTAGCCCAAGGTCATGAAGGCACCAAAAGGCACATCCTACCCATGCTTTATACTTCACTACTGCTACCTGGTGCAAGGCCACGGTCCCAGAGATCTGTGGAGCCTGAGGTGTGAACCCGGGAGCCCCCAAGGGCTTAACAACTCCTTCAGTCCCAGTGGAAGGCAGGGCAGATGTGCGCTGCTCTTCTTCTGTGGCTCCTGGGCTCAGGCCCGTATGAGAATGTCCCCAGATGGGGAAGGTCCTGCTGTGCTCCTCAGACACTCAGGTCTGTGTAGCACAAAGGCAGTGGTCTGTGGCCTCAGCCTGACTTAAAGCTGCTCCACCTTTTCAAATCCAAGAAACCATCCTGATTTCACATCACAACCAACCTCGTGGACCTGCAGCTCTCCAGCTCCTGCTACAACTGGCTTCTGCCTCTGTTGGCTTTTCTGCTGTCTCCCTACCTATCAGCCCCTCCAGCCTTCTCCTCTAGCCTGACTCCCAAGGCCCACCTCTTCCACCTTTCTCTCTCAGCACCTTCTACTCCTTCCTTCCCTTGTTCTCCCGCCACACACACCTGGCAAAATCTCAACCTTGGATCAATCCACCGTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTCCGCTCATACTCCAGGGCTGCTGAATAGTACAGGAGAAAATCACATAAGCAGAAGGCTTGGCATTACTTTCATGGTCTCCAGCCTCAGTTTGGGGAAGCAGAAAGACCACAGACTTTGGACACAAACAGATCTGGTTTGAATCGTGGCTCCATACTAGCTGTGTGACCTTGGGCAAGTTGCTTAACTTCTCTGAGCTTCAGTTTCCTTCCCTACAAAATGGGACTAATGGTATCTACTTCATGAGGGTTCCTGAAGCTGAAATGAAAATCCATGTAAAGCACCCAGTCCAGTGCCTGGTACAATGTAGGCGCTTGGCAAATGTAAGGCTCCTTTTTTTCTTCTGTTCTCCAAACGAAACCCTGGTTTCCCCAACCAAATATCCAAGGATTGCTGCCTTGCAATCCTCCCTCTTTTTCTCGCGAGTGCTCCCTCTCCCATTAGCCTCAGCAGACAGAGGAGAAGGGGGTTGGAGAGGTTGAGGGGCACAAGGGACAGAGAGAGGAGATGGGGACAGAGGTTGAAAGGACTGGACATAAGGCCAAGGGACGTGGGGAGGAGGAGGGGTTTGAGGGAACCCAAAGGGCCGAGGTAAGCGAGCCTGTTCCGAGGTGGGGCTTAGAGGGCTCGAGAACAAGAACCCGCTCCCAGTACCAGGCCCGTGGCCCGGGCTCCCATGCTCTCTCAGTCGCTCACTCACCAGGCCGAGGCTGCGAGCCCTCCAGGTGGTAAAGAGAAGCGCAGGGCCCGGTGGTGCTGTGGACTGGGACCGCAGGGCAAGACCCGGTGGCCTGGAGCAGCGCCCAGGCTGGTGTCCGAGGGTCCGACAAACTGGGGATCCAGTGGGCCGCCAAGAGCCGAACCTGAGCCCCTGCGCGCCAGCAGTCCGGGTTCCGAGGCTCCAGGGTCCGAGTCGGCACAGGCCGGCGGAGCGGCGCCCGGCGGGTTCGTGGCCGGGTGTTCGGGCTCCGAAGGCCCGGCGCCCCCCGGGGCTCGGTGGCCATGCATGGTCCGGGCCTGGGCGCGGGGCCCGAGCTCCCCGCTTGGCTCCAGCTCCTGGGGCGGAGGCGCGGGCGGAGGAGGCCCGGCGCCCGGCGGAGCAGCGGCCTCAGGATCGGGGGGCGGGACTGCGGGCTCAGCCCCACTGCAGAGACTCAAGCCCCCAGCCCGGGCCCGGGCCAGCAGCCGTGGCAGCGGTGGCAGTAGCAGCAGCAGCAGCCGCGGCCACCGCCGCTGCCGTGCCAGGCATCGCCGGCCCCGGCCCCGGCCCCGCGCGGGGAGTGGGCTCGGCGGGGCCGGGGGCCCGCTGGGGAGCGCTGTCTATGCGGCTGCGGTTGGGCGAGGGTTGGAGGGCTACGCTCGGCGGGGACTCTCCGGTGGACGGCGAGCCACTTCCGTGGCCCCGGGGCGAGAAGTCGGTCGGATCCAAGTGCGGGGTCTCTTCTTTCTCCCCGAATGGGAATAGATCTGGGCTCTCCTGGCTGGTTGGGAAGCGTTCTTCCTCCCGCCGCAGCCGAGGCCGGGGGCGGAGGAGAGGGGAGGGGAGAGGAGGGGAGGGAAGAGAGAACGGCGGTGGCCGGGGGCGCGCGTGTGCGCTGCGCTTGGGCTGCGGGGCTCGCCTTCAGCCAGTAGTCCCAGACGATGCTCCAGCCGCGGGGGCAGGAGAACGGCCTGGGCCGGGCTCCACCGTCCTCCCCAGCTTCAGCCTGGGTCTCGGCGGCGGCGGGCGGGAAGGAGCCCTGGGAAGGGGGGTGGGGAGGCGGGAGCCTCGCAGAGGCAGCCGCAGCCACAGCGGCACTGGGACCCAGTTACCGGGGCCCCGCCCCCTCGCCCGGGATTTGCGCCTGACCACGCCCCCTCGCTCGGGGCCGCCTCACTTCTCGCTGCTACCGCTCTCAAGGCCCTCCTGCCCCTTAAAAAATTCCCCCTCAGCCTGCTTTCCCCACAGGCAAGTCTCCGGGCTCAACCCCCTCCCCCCATATCTGCCCTTCCATCCCATCTCAGGTCTTCCCCCCTCTGCTTGCCGTTCACTCTCTTTTCCAAAACCCTTTCTTCATGTTCCTGAGTGTTCCTAGGGCTTGGCTCATAGAGGACCTGTCTCTGATTCTCCTTCACTTTGCTCAGACCAGATATCTTGGTCCCTTACTTAGTCACTTTCTTAAATACCCTCAGTTCCCTGATTTGTCGCATCCGCCTGGCAACATCCCAGTCTTGAATCGGTCCAACTGTCCGCCTTTTCCATGCCTGCGCCCAGGCAGCTAAACATTGCTGGGGAAAACTATTCAACTTCACAGATTTGTGCCACTATAAACCCATGGTTCCCAGCTTCTACCAGGCCCTCAGTTTTGACCCACAACCCTACTAGTCAGCTCTCCCTCTGTTCTCCACAGTGACCATTTCAAACCTTCTCCTTTCCCCTCAAACCCCAAGTGCTCCATCTGCCCTGTAACCCTCAGCAAATAACCTGACCTGCTGCAGAGAGTAAACAGAGCCACCGTAGAGGAAGCTCTTGACTTTTTGCTACGAAGCCTAGGAATTTGTCCTTGCTCCTTCCCAACAGCATCTAAACATAGACCTCTTCCATCTAAAAACAAATAAACAATTACCAAGAATTCTGCCTCTCCAACCACCTCCTTCTCTTCTCTTCTACAAACTTCTCAAAAGAGTTGCCTACACCCAACTGTCTTCATTTTCCCACCTCCCACTTATCTTTCAACCCACTCCAATCTGCCTCCACTACTTGCTTGAAACTGCTCTCTCTCATCAGGGTCTGCCAT
|
pathogenic
| 334,987 |
Variant chromosome X, position 54495406, gene FGD1 (FYVE, RhoGEF and PH domain containing 1): benign or pathogenic? Disease(s)?
|
pathogenic; ['FGD1-related_disorder', 'Inborn_genetic_diseases']
|
GGAGCTCACATTCTAGTAGAGGAAGATAGGCAATAAACGAGTAGACACATACAATAAGATAATTTCAGATTGTACTAAGTGCAAAGATGGAAGCACACTCACAGTCTCTGATGGAGACTCACAAGTGGCCCTACCTAAAGTGGTTAGGGACAGTCTCTTGGAAGAGGTGACATTTGACCTGAGACATGCAAGACGAGGAGCAAGCCAGGTGGAGGGCTAGGGGAAGAGCTTCCAGCCAGAAGGAAAAGCCAATGCAAAAGTCCTGGGGTGGGAGTGCTTGTGGCCTGTTTTGGCAGCTGCAAAAAGGCACTGGCTTTACACAGTGTCAAGGGGAGTTTGGAAAGCCAGCAGAAGTAACATGCAGGCCAAGGTGTTAAGGGCCTGTTGCCAGCTGGTTATCTTCAGCCCACACTGAGGGAGCCCCCTGAAATCTCCCAGAGGTTCCATGACTAGCCCAAGGTCATGAAGGCACCAAAAGGCACATCCTACCCATGCTTTATACTTCACTACTGCTACCTGGTGCAAGGCCACGGTCCCAGAGATCTGTGGAGCCTGAGGTGTGAACCCGGGAGCCCCCAAGGGCTTAACAACTCCTTCAGTCCCAGTGGAAGGCAGGGCAGATGTGCGCTGCTCTTCTTCTGTGGCTCCTGGGCTCAGGCCCGTATGAGAATGTCCCCAGATGGGGAAGGTCCTGCTGTGCTCCTCAGACACTCAGGTCTGTGTAGCACAAAGGCAGTGGTCTGTGGCCTCAGCCTGACTTAAAGCTGCTCCACCTTTTCAAATCCAAGAAACCATCCTGATTTCACATCACAACCAACCTCGTGGACCTGCAGCTCTCCAGCTCCTGCTACAACTGGCTTCTGCCTCTGTTGGCTTTTCTGCTGTCTCCCTACCTATCAGCCCCTCCAGCCTTCTCCTCTAGCCTGACTCCCAAGGCCCACCTCTTCCACCTTTCTCTCTCAGCACCTTCTACTCCTTCCTTCCCTTGTTCTCCCGCCACACACACCTGGCAAAATCTCAACCTTGGATCAATCCACCGTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTCCGCTCATACTCCAGGGCTGCTGAATAGTACAGGAGAAAATCACATAAGCAGAAGGCTTGGCATTACTTTCATGGTCTCCAGCCTCAGTTTGGGGAAGCAGAAAGACCACAGACTTTGGACACAAACAGATCTGGTTTGAATCGTGGCTCCATACTAGCTGTGTGACCTTGGGCAAGTTGCTTAACTTCTCTGAGCTTCAGTTTCCTTCCCTACAAAATGGGACTAATGGTATCTACTTCATGAGGGTTCCTGAAGCTGAAATGAAAATCCATGTAAAGCACCCAGTCCAGTGCCTGGTACAATGTAGGCGCTTGGCAAATGTAAGGCTCCTTTTTTTCTTCTGTTCTCCAAACGAAACCCTGGTTTCCCCAACCAAATATCCAAGGATTGCTGCCTTGCAATCCTCCCTCTTTTTCTCGCGAGTGCTCCCTCTCCCATTAGCCTCAGCAGACAGAGGAGAAGGGGGTTGGAGAGGTTGAGGGGCACAAGGGACAGAGAGAGGAGATGGGGACAGAGGTTGAAAGGACTGGACATAAGGCCAAGGGACGTGGGGAGGAGGAGGGGTTTGAGGGAACCCAAAGGGCCGAGGTAAGCGAGCCTGTTCCGAGGTGGGGCTTAGAGGGCTCGAGAACAAGAACCCGCTCCCAGTACCAGGCCCGTGGCCCGGGCTCCCATGCTCTCTCAGTCGCTCACTCACCAGGCCGAGGCTGCGAGCCCTCCAGGTGGTAAGAGAAGCGCAGGGCCCGGTGGTGCTGTGGACTGGGACCGCAGGGCAAGACCCGGTGGCCTGGAGCAGCGCCCAGGCTGGTGTCCGAGGGTCCGACAAACTGGGGATCCAGTGGGCCGCCAAGAGCCGAACCTGAGCCCCTGCGCGCCAGCAGTCCGGGTTCCGAGGCTCCAGGGTCCGAGTCGGCACAGGCCGGCGGAGCGGCGCCCGGCGGGTTCGTGGCCGGGTGTTCGGGCTCCGAAGGCCCGGCGCCCCCCGGGGCTCGGTGGCCATGCATGGTCCGGGCCTGGGCGCGGGGCCCGAGCTCCCCGCTTGGCTCCAGCTCCTGGGGCGGAGGCGCGGGCGGAGGAGGCCCGGCGCCCGGCGGAGCAGCGGCCTCAGGATCGGGGGGCGGGACTGCGGGCTCAGCCCCACTGCAGAGACTCAAGCCCCCAGCCCGGGCCCGGGCCAGCAGCCGTGGCAGCGGTGGCAGTAGCAGCAGCAGCAGCCGCGGCCACCGCCGCTGCCGTGCCAGGCATCGCCGGCCCCGGCCCCGGCCCCGCGCGGGGAGTGGGCTCGGCGGGGCCGGGGGCCCGCTGGGGAGCGCTGTCTATGCGGCTGCGGTTGGGCGAGGGTTGGAGGGCTACGCTCGGCGGGGACTCTCCGGTGGACGGCGAGCCACTTCCGTGGCCCCGGGGCGAGAAGTCGGTCGGATCCAAGTGCGGGGTCTCTTCTTTCTCCCCGAATGGGAATAGATCTGGGCTCTCCTGGCTGGTTGGGAAGCGTTCTTCCTCCCGCCGCAGCCGAGGCCGGGGGCGGAGGAGAGGGGAGGGGAGAGGAGGGGAGGGAAGAGAGAACGGCGGTGGCCGGGGGCGCGCGTGTGCGCTGCGCTTGGGCTGCGGGGCTCGCCTTCAGCCAGTAGTCCCAGACGATGCTCCAGCCGCGGGGGCAGGAGAACGGCCTGGGCCGGGCTCCACCGTCCTCCCCAGCTTCAGCCTGGGTCTCGGCGGCGGCGGGCGGGAAGGAGCCCTGGGAAGGGGGGTGGGGAGGCGGGAGCCTCGCAGAGGCAGCCGCAGCCACAGCGGCACTGGGACCCAGTTACCGGGGCCCCGCCCCCTCGCCCGGGATTTGCGCCTGACCACGCCCCCTCGCTCGGGGCCGCCTCACTTCTCGCTGCTACCGCTCTCAAGGCCCTCCTGCCCCTTAAAAAATTCCCCCTCAGCCTGCTTTCCCCACAGGCAAGTCTCCGGGCTCAACCCCCTCCCCCCATATCTGCCCTTCCATCCCATCTCAGGTCTTCCCCCCTCTGCTTGCCGTTCACTCTCTTTTCCAAAACCCTTTCTTCATGTTCCTGAGTGTTCCTAGGGCTTGGCTCATAGAGGACCTGTCTCTGATTCTCCTTCACTTTGCTCAGACCAGATATCTTGGTCCCTTACTTAGTCACTTTCTTAAATACCCTCAGTTCCCTGATTTGTCGCATCCGCCTGGCAACATCCCAGTCTTGAATCGGTCCAACTGTCCGCCTTTTCCATGCCTGCGCCCAGGCAGCTAAACATTGCTGGGGAAAACTATTCAACTTCACAGATTTGTGCCACTATAAACCCATGGTTCCCAGCTTCTACCAGGCCCTCAGTTTTGACCCACAACCCTACTAGTCAGCTCTCCCTCTGTTCTCCACAGTGACCATTTCAAACCTTCTCCTTTCCCCTCAAACCCCAAGTGCTCCATCTGCCCTGTAACCCTCAGCAAATAACCTGACCTGCTGCAGAGAGTAAACAGAGCCACCGTAGAGGAAGCTCTTGACTTTTTGCTACGAAGCCTAGGAATTTGTCCTTGCTCCTTCCCAACAGCATCTAAACATAGACCTCTTCCATCTAAAAACAAATAAACAATTACCAAGAATTCTGCCTCTCCAACCACCTCCTTCTCTTCTCTTCTACAAACTTCTCAAAAGAGTTGCCTACACCCAACTGTCTTCATTTTCCCACCTCCCACTTATCTTTCAACCCACTCCAATCTGCCTCCACTACTTGCTTGAAACTGCTCTCTCTCATCAGGGTCTGCCATGAAACATCTCACTAAATCCCATAGAATCTTTTCTTTTTTTTTTTTTTTGAGACAAGAGTCTCACTCTGTCGCCCAGGCTGGAATGCAGCGGCACGATCTCGGCTCACTACAATCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTACGCCCAGCTATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATACTGGCCAGGCTTGTCTCGAACTTCTAACCTTGTAATTCG
|
GGAGCTCACATTCTAGTAGAGGAAGATAGGCAATAAACGAGTAGACACATACAATAAGATAATTTCAGATTGTACTAAGTGCAAAGATGGAAGCACACTCACAGTCTCTGATGGAGACTCACAAGTGGCCCTACCTAAAGTGGTTAGGGACAGTCTCTTGGAAGAGGTGACATTTGACCTGAGACATGCAAGACGAGGAGCAAGCCAGGTGGAGGGCTAGGGGAAGAGCTTCCAGCCAGAAGGAAAAGCCAATGCAAAAGTCCTGGGGTGGGAGTGCTTGTGGCCTGTTTTGGCAGCTGCAAAAAGGCACTGGCTTTACACAGTGTCAAGGGGAGTTTGGAAAGCCAGCAGAAGTAACATGCAGGCCAAGGTGTTAAGGGCCTGTTGCCAGCTGGTTATCTTCAGCCCACACTGAGGGAGCCCCCTGAAATCTCCCAGAGGTTCCATGACTAGCCCAAGGTCATGAAGGCACCAAAAGGCACATCCTACCCATGCTTTATACTTCACTACTGCTACCTGGTGCAAGGCCACGGTCCCAGAGATCTGTGGAGCCTGAGGTGTGAACCCGGGAGCCCCCAAGGGCTTAACAACTCCTTCAGTCCCAGTGGAAGGCAGGGCAGATGTGCGCTGCTCTTCTTCTGTGGCTCCTGGGCTCAGGCCCGTATGAGAATGTCCCCAGATGGGGAAGGTCCTGCTGTGCTCCTCAGACACTCAGGTCTGTGTAGCACAAAGGCAGTGGTCTGTGGCCTCAGCCTGACTTAAAGCTGCTCCACCTTTTCAAATCCAAGAAACCATCCTGATTTCACATCACAACCAACCTCGTGGACCTGCAGCTCTCCAGCTCCTGCTACAACTGGCTTCTGCCTCTGTTGGCTTTTCTGCTGTCTCCCTACCTATCAGCCCCTCCAGCCTTCTCCTCTAGCCTGACTCCCAAGGCCCACCTCTTCCACCTTTCTCTCTCAGCACCTTCTACTCCTTCCTTCCCTTGTTCTCCCGCCACACACACCTGGCAAAATCTCAACCTTGGATCAATCCACCGTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTCCGCTCATACTCCAGGGCTGCTGAATAGTACAGGAGAAAATCACATAAGCAGAAGGCTTGGCATTACTTTCATGGTCTCCAGCCTCAGTTTGGGGAAGCAGAAAGACCACAGACTTTGGACACAAACAGATCTGGTTTGAATCGTGGCTCCATACTAGCTGTGTGACCTTGGGCAAGTTGCTTAACTTCTCTGAGCTTCAGTTTCCTTCCCTACAAAATGGGACTAATGGTATCTACTTCATGAGGGTTCCTGAAGCTGAAATGAAAATCCATGTAAAGCACCCAGTCCAGTGCCTGGTACAATGTAGGCGCTTGGCAAATGTAAGGCTCCTTTTTTTCTTCTGTTCTCCAAACGAAACCCTGGTTTCCCCAACCAAATATCCAAGGATTGCTGCCTTGCAATCCTCCCTCTTTTTCTCGCGAGTGCTCCCTCTCCCATTAGCCTCAGCAGACAGAGGAGAAGGGGGTTGGAGAGGTTGAGGGGCACAAGGGACAGAGAGAGGAGATGGGGACAGAGGTTGAAAGGACTGGACATAAGGCCAAGGGACGTGGGGAGGAGGAGGGGTTTGAGGGAACCCAAAGGGCCGAGGTAAGCGAGCCTGTTCCGAGGTGGGGCTTAGAGGGCTCGAGAACAAGAACCCGCTCCCAGTACCAGGCCCGTGGCCCGGGCTCCCATGCTCTCTCAGTCGCTCACTCACCAGGCCGAGGCTGCGAGCCCTCCAGGTGGTAAGAGAAGCGCAGGGCCCGGTGGTGCTGTGGACTGGGACCGCAGGGCAAGACCCGGTGGCCTGGAGCAGCGCCCAGGCTGGTGTCCGAGGGTCCGACAAACTGGGGATCCAGTGGGCCGCCAAGAGCCGAACCTGAGCCCCTGCGCGCCAGCAGTCCGGGTTCCGAGGCTCCAGGGTCCGAGTCGGCACAGGCCGGCGGAGCGGCGCCCGGCGGGTTCGTGGCCGGGTGTTCGGGCTCCGAAGGCCCGGCGCCCCCCCGGGGCTCGGTGGCCATGCATGGTCCGGGCCTGGGCGCGGGGCCCGAGCTCCCCGCTTGGCTCCAGCTCCTGGGGCGGAGGCGCGGGCGGAGGAGGCCCGGCGCCCGGCGGAGCAGCGGCCTCAGGATCGGGGGGCGGGACTGCGGGCTCAGCCCCACTGCAGAGACTCAAGCCCCCAGCCCGGGCCCGGGCCAGCAGCCGTGGCAGCGGTGGCAGTAGCAGCAGCAGCAGCCGCGGCCACCGCCGCTGCCGTGCCAGGCATCGCCGGCCCCGGCCCCGGCCCCGCGCGGGGAGTGGGCTCGGCGGGGCCGGGGGCCCGCTGGGGAGCGCTGTCTATGCGGCTGCGGTTGGGCGAGGGTTGGAGGGCTACGCTCGGCGGGGACTCTCCGGTGGACGGCGAGCCACTTCCGTGGCCCCGGGGCGAGAAGTCGGTCGGATCCAAGTGCGGGGTCTCTTCTTTCTCCCCGAATGGGAATAGATCTGGGCTCTCCTGGCTGGTTGGGAAGCGTTCTTCCTCCCGCCGCAGCCGAGGCCGGGGGCGGAGGAGAGGGGAGGGGAGAGGAGGGGAGGGAAGAGAGAACGGCGGTGGCCGGGGGCGCGCGTGTGCGCTGCGCTTGGGCTGCGGGGCTCGCCTTCAGCCAGTAGTCCCAGACGATGCTCCAGCCGCGGGGGCAGGAGAACGGCCTGGGCCGGGCTCCACCGTCCTCCCCAGCTTCAGCCTGGGTCTCGGCGGCGGCGGGCGGGAAGGAGCCCTGGGAAGGGGGGTGGGGAGGCGGGAGCCTCGCAGAGGCAGCCGCAGCCACAGCGGCACTGGGACCCAGTTACCGGGGCCCCGCCCCCTCGCCCGGGATTTGCGCCTGACCACGCCCCCTCGCTCGGGGCCGCCTCACTTCTCGCTGCTACCGCTCTCAAGGCCCTCCTGCCCCTTAAAAAATTCCCCCTCAGCCTGCTTTCCCCACAGGCAAGTCTCCGGGCTCAACCCCCTCCCCCCATATCTGCCCTTCCATCCCATCTCAGGTCTTCCCCCCTCTGCTTGCCGTTCACTCTCTTTTCCAAAACCCTTTCTTCATGTTCCTGAGTGTTCCTAGGGCTTGGCTCATAGAGGACCTGTCTCTGATTCTCCTTCACTTTGCTCAGACCAGATATCTTGGTCCCTTACTTAGTCACTTTCTTAAATACCCTCAGTTCCCTGATTTGTCGCATCCGCCTGGCAACATCCCAGTCTTGAATCGGTCCAACTGTCCGCCTTTTCCATGCCTGCGCCCAGGCAGCTAAACATTGCTGGGGAAAACTATTCAACTTCACAGATTTGTGCCACTATAAACCCATGGTTCCCAGCTTCTACCAGGCCCTCAGTTTTGACCCACAACCCTACTAGTCAGCTCTCCCTCTGTTCTCCACAGTGACCATTTCAAACCTTCTCCTTTCCCCTCAAACCCCAAGTGCTCCATCTGCCCTGTAACCCTCAGCAAATAACCTGACCTGCTGCAGAGAGTAAACAGAGCCACCGTAGAGGAAGCTCTTGACTTTTTGCTACGAAGCCTAGGAATTTGTCCTTGCTCCTTCCCAACAGCATCTAAACATAGACCTCTTCCATCTAAAAACAAATAAACAATTACCAAGAATTCTGCCTCTCCAACCACCTCCTTCTCTTCTCTTCTACAAACTTCTCAAAAGAGTTGCCTACACCCAACTGTCTTCATTTTCCCACCTCCCACTTATCTTTCAACCCACTCCAATCTGCCTCCACTACTTGCTTGAAACTGCTCTCTCTCATCAGGGTCTGCCATGAAACATCTCACTAAATCCCATAGAATCTTTTCTTTTTTTTTTTTTTTGAGACAAGAGTCTCACTCTGTCGCCCAGGCTGGAATGCAGCGGCACGATCTCGGCTCACTACAATCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTACGCCCAGCTATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATACTGGCCAGGCTTGTCTCGAACTTCTAACCTTGTAATTC
|
pathogenic
| 334,991 |
A genetic variant at chromosome X, position 56565360, affecting gene UBQLN2 (ubiquilin 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
benign
|
ATTCTCCATTGGTCTTTTAATGTCGTTTACAGAAGCTGACTCTCTACCGCCTCCTTCTCTCCGTCTCACCCTCTCTGCCTCGCCTGCTCTGTACTGTTCTGTTCTCTTCTCTCTCTCCCTTTGTTTCTCTCTCTCCCTTTTTTCTTTTCAGTGCAGAAGTTTTTAATTTTGACCGAGCCAAATCTATCAATCTAGGCCTGGCGCCGCGTCAGCAGAGGGGGCGGGGAGGCGAGCGCGGAACTGGGGGAGGGGAAGGGGCGGGGATCAGCAGGCGGAGCGGCTGCCAGAGTTGCTGGGAGTGCGCGCGGTCGGATCACAAGGCGGCGGCGGAGGAGGCCCAGAGACCGGAGCGCGGAGACCTCAGCCAGCGGCCTACGCCCAGGCCTTTCTCCACCGGAGGACCAGGGAACCGCAGTCTTCATCACAGAGGTACCGTGCTCCGCGCTCCCCGCCTGACCCGGCCCAGCCCGCTGCGGCGGTGCCTCCTTCCTTCCTCCTTCCCTCGCGCTCTCTCTTTCGCCCGCCCGCGCCTTCCCTGCCCGCCTGCGTCACCGCGGCCGCCATGGCTGAGAATGGCGAGAGCAGCGGCCCCCCGCGCCCCTCCCGCGGCCCTGCTGCGGCCCAAGGCTCGGCTGCTGCCCCGGCTGAGCCTAAAATCATCAAAGTCACGGTGAAGACTCCCAAAGAGAAAGAGGAGTTCGCGGTGCCCGAGAACAGCTCGGTTCAGCAGTTTAAGGAAGCGATTTCGAAACGCTTCAAATCCCAAACCGATCAGCTAGTGCTGATTTTTGCCGGAAAAATCTTAAAAGATCAAGATACCTTGATCCAGCATGGCATCCATGATGGGCTGACTGTTCACCTTGTCATCAAAAGCCAGAACCGACCTCAGGGCCAGTCCACGCAGCCTAGCAATGCCGCGGGAACTAACACTACCTCGGCGTCGACTCCCAGGAGTAACTCCACACCTATTTCCACAAATAGCAACCCGTTTGGGTTGGGGAGCCTGGGAGGACTTGCAGGCCTTAGCAGCCTGGGCTTGAGCTCGACCAACTTCTCTGAGCTCCAGAGCCAGATGCAGCAGCAGCTTATGGCCAGCCCTGAGATGATGATCCAAATAATGGAAAATCCCTTTGTTCAGAGCATGCTTTCGAATCCCGATCTGATGAGGCAGCTCATTATGGCTAATCCACAGATGCAGCAATTGATTCAGAGAAACCCAGAAATCAGTCACCTGCTCAACAACCCAGACATAATGAGGCAGACACTCGAAATTGCCAGGAATCCAGCCATGATGCAAGAGATGATGAGAAATCAAGACCTGGCTCTTAGCAATCTAGAAAGCATCCCAGGTGGCTATAATGCTTTACGGCGCATGTACACTGACATTCAAGAGCCGATGCTGAATGCCGCACAAGAGCAGTTTGGGGGTAATCCATTTGCCTCCGTGGGGAGTAGTTCCTCCTCTGGGGAAGGTACGCAGCCTTCCCGCACAGAAAATCGCGATCCACTACCCAATCCATGGGCACCACCGCCAGCTACCCAGAGTTCTGCAACTACCAGCACGACCACAAGCACTGGTAGTGGGTCTGGCAATAGTTCCAGCAATGCTACTGGGAACACCGTTGCTGCCGCTAATTATGTCGCCAGCATCTTTAGTACCCCAGGCATGCAGAGCCTGCTGCAACAGATAACTGAAAACCCCCAGCTGATTCAGAATATGCTGTCGGCGCCCTACATGAGAAGCATGATGCAGTCGCTGAGCCAGAATCCAGATTTGGCTGCACAGATGATGCTGAATAGCCCGCTGTTTACTGCAAATCCTCAGCTGCAGGAGCAGATGCGGCCACAGCTCCCAGCCTTCCTGCAGCAGATGCAGAATCCAGACACACTATCAGCCATGTCAAACCCAAGAGCAATGCAGGCTTTAATGCAGATCCAGCAGGGGCTACAGACATTAGCCACTGAAGCACCTGGCCTGATTCCGAGCTTCACTCCAGGTGTGGGGGTGGGGGTGCTGGGAACCGCTATAGGCCCTGTAGGCCCAGTCACCCCCATAGGCCCCATAGGCCCTATAGTCCCTTTTACCCCCATAGGCCCCATTGGGCCCATAGGACCCACTGGCCCTGCAGCCCCCCCTGGCTCCACCGGCTCTGGTGGCCCCACGGGGCCTACTGTGTCCAGCGCTGCACCTAGTGAAACCACGAGTCCTACATCAGAATCTGGACCCAACCAGCAGTTCATTCAGCAAATGGTGCAGGCCCTGGCTGGAGCAAATGCTCCACAGCTGCCGAATCCAGAAGTCAGATTTCAGCAACAACTGGAACAGCTCAACGCAATGGGGTTCTTAAACCGTGAAGCAAACTTGCAGGCCCTAATAGCAACAGGAGGCGACATCAATGCAGCCATTGAAAGGCTGCTGGGCTCCCAGCCATCGTAATCACATTTCTGTACCTGGAAAAAAAATGTATCTTATTTTTGATAATGGCTCTTAAATCTTTAAACACACACACAAAATCGTTCTTTACTTTCATTTTGATTCTTTTAAATCTGTCTAGTTGTAAGTCTAATATGATGCATTTTAAGATGGAGTCCCTCCCTCCTACTTCCCTCACTCCCTTTCTCCTTTGCTTATTTTTCCTACCTTCCCTTCCTCTTGTCTCCCCACTCCCTCCCTCTTTGTTTCCTTCCTTCCTTATTTCCTTTAGTTTCCTTCCTTAGCCGTTTTGAGTGGTGGGAATCAATGCTGTTTCACTCAAAAGTGTTGCATGCAAACACTTCTCTTTATTCTGCATTTATTGTGATTTTTGGAAACAGGTATCAACCTTCACAGTTGGGTGAACAAGTGTTGTCCTACAGATGTCCAATTTATTTGCATTTTTAAACATTAGCCTATGATAGTAATTTAATGTAGAATGAAGATATTAAAAACAGAAGCAAATTATTTGAAGCTCTCTAATTTGTGGTACGATATTGCTTATTGTGACTTTGGCATGTATTTTTGCTAGCAAAATGCTGTAAGATTTATACCATTGATCTTTTTTGCTATATTTGTATACAGTACAGTAAGCACAATTGGCACTGTACATCTAAAAATATTACAGTAGAATCTGAGTGTAATATGTGTAACCAAAATGAGAAAGAATACAAGAAATGTTTCTGGAGCTAGTTATGTCTCACAATTTTGTAGAATCTTACAGCATCTTTGATAAACTTCTCAGTGAAAATGTTGGCTAGGCAAGTTCAGTTAAAATATAGTAGAAATGTTTATCCTGGTATCTCTAAGTATACATTTAATTGTACAGAAAATTTACAGTGTAACATTGTGTCAACATTTGCAGATTGACTGTATATGACCTTAATCTTTGTGCAGCCTGAAGGATCAGTGTAGTAATGCCAGGAAAGTGCTTTTTACCTAAGACTTCCTTCTCAGCTTCTCCCATAAAGAGACCCTAATATGCATTTTGATTTGTAATTGGAAATGTAACTTTCACTGAAAGTGTCATGTGATGTTTGCATTACTTTTAACTGCTATGTATAAAGGAAAGTGTGTCTTTTGACTTCATCAGTTATTTCTCTTGTGCACAGAGAAAAATGCATTAAAAATGACTAAAAAAAATAAAAAATTAAAAAATGGATAAATCTTTTCTTTTTGCCTTTTGGCCCTAGGATCGTGTTTAGGAGGATTATCCCACCCCGAGATTATATAAATCTTATCCTATATTTCTCTAACTTATATGGTTTTATTTAGAAAATGTTTTGTCCTGTCTGGAATTATCTTGATGTATGGATTTAGGTATTCTAACTTTTTTGCCCCAAAGGGTTAGCCAGTTGTTAACATATTTACCTTTTCCCCCAACATATGAAATGTCATACATGTATATACTTTATTCTGTGTTTGGATTCCCTTTAGTTCCATTGAACATTGTGGCACCAGTACACCAGCCTGTAGATGAGTTAGAAATGGGACTTTGTATCTTTTAATGTGAGACCTCCTCTTGATCTTTTTTATTTTTTACAATATTCTGACGATTCTGACATGTTTATTTTACCAGATGAATTTTACAGTTAATAGATTCTTCCCCCAAAAATATATTGA
|
ATTCTCCATTGGTCTTTTAATGTCGTTTACAGAAGCTGACTCTCTACCGCCTCCTTCTCTCCGTCTCACCCTCTCTGCCTCGCCTGCTCTGTACTGTTCTGTTCTCTTCTCTCTCTCCCTTTGTTTCTCTCTCTCCCTTTTTTCTTTTCAGTGCAGAAGTTTTTAATTTTGACCGAGCCAAATCTATCAATCTAGGCCTGGCGCCGCGTCAGCAGAGGGGGCGGGGAGGCGAGCGCGGAACTGGGGGAGGGGAAGGGGCGGGGATCAGCAGGCGGAGCGGCTGCCAGAGTTGCTGGGAGTGCGCGCGGTCGGATCACAAGGCGGCGGCGGAGGAGGCCCAGAGACCGGAGCGCGGAGACCTCAGCCAGCGGCCTACGCCCAGGCCTTTCTCCACCGGAGGACCAGGGAACCGCAGTCTTCATCACAGAGGTACCGTGCTCCGCGCTCCCCGCCTGACCCGGCCCAGCCCGCTGCGGCGGTGCCTCCTTCCTTCCTCCTTCCCTCGCGCTCTCTCTTTCGCCCGCCCGCGCCTTCCCTGCCCGCCTGCGTCACCGCGGCCGCCATGGCTGAGAATGGCGAGAGCAGCGGCCCCCCGCGCCCCTCCCGCGGCCCTGCTGCGGCCCAAGGCTCGGCTGCTGCCCCGGCTGAGCCTAAAATCATCAAAGTCACGGTGAAGACTCCCAAAGAGAAAGAGGAGTTCGCGGTGCCCGAGAACAGCTCGGTTCAGCAGTTTAAGGAAGCGATTTCGAAACGCTTCAAATCCCAAACCGATCAGCTAGTGCTGATTTTTGCCGGAAAAATCTTAAAAGATCAAGATACCTTGATCCAGCATGGCATCCATGATGGGCTGACTGTTCACCTTGTCATCAAAAGCCAGAACCGACCTCAGGGCCAGTCCACGCAGCCTAGCAATGCCGCGGGAACTAACACTACCTCGGCGTCGACTCCCAGGAGTAACTCCACACCTATTTCCACAAATAGCAACCCGTTTGGGTTGGGGAGCCTGGGAGGACTTGCAGGCCTTAGCAGCCTGGGCTTGAGCTCGACCAACTTCTCTGAGCTCCAGAGCCAGATGCAGCAGCAGCTTATGGCCAGCCCTGAGATGATGATCCAAATAATGGAAAATCCCTTTGTTCAGAGCATGCTTTCGAATCCCGATCTGATGAGGCAGCTCATTATGGCTAATCCACAGATGCAGCAATTGATTCAGAGAAACCCAGAAATCAGTCACCTGCTCAACAACCCAGACATAATGAGGCAGACACTCGAAATTGCCAGGAATCCAGCCATGATGCAAGAGATGATGAGAAATCAAGACCTGGCTCTTAGCAATCTAGAAAGCATCCCAGGTGGCTATAATGCTTTACGGCGCATGTACACTGACATTCAAGAGCCGATGCTGAATGCCGCACAAGAGCAGTTTGGGGGTAATCCATTTGCCTCCGTGGGGAGTAGTTCCTCCTCTGGGGAAGGTACGCAGCCTTCCCGCACAGAAAATCGCGATCCACTACCCAATCCATGGGCACCACCGCCAGCTACCCAGAGTTCTGCAACTACCAGCACGACCACAAGCACTGGTAGTGGGTCTGGCAATAGTTCCAGCAATGCTACTGGGAACACCGTTGCTGCCGCTAATTATGTCGCCAGCATCTTTAGTACCCCAGGCATGCAGAGCCTGCTGCAACAGATAACTGAAAACCCCCAGCTGATTCAGAATATGCTGTCGGCGCCCTACATGAGAAGCATGATGCAGTCGCTGAGCCAGAATCCAGATTTGGCTGCACAGATGATGCTGAATAGCCCGCTGTTTACTGCAAATCCTCAGCTGCAGGAGCAGATGCGGCCACAGCTCCCAGCCTTCCTGCAGCAGATGCAGAATCCAGACACACTATCAGCCATGTCAAACCCAAGAGCAATGCAGGCTTTAATGCAGATCCAGCAGGGGCTACAGACATTAGCCACTGAAGCACCTGGCCTGATTCCGAGCTTCACTCCAGGTGTGGGGGTGGGGGTGCTGGGAACCGCTATAGGCCCTGTAGGCCCAGTCACCCCCATAGGCCCTATAGTCCCTTTTACCCCCATAGGCCCCATTGGGCCCATAGGACCCACTGGCCCTGCAGCCCCCCCTGGCTCCACCGGCTCTGGTGGCCCCACGGGGCCTACTGTGTCCAGCGCTGCACCTAGTGAAACCACGAGTCCTACATCAGAATCTGGACCCAACCAGCAGTTCATTCAGCAAATGGTGCAGGCCCTGGCTGGAGCAAATGCTCCACAGCTGCCGAATCCAGAAGTCAGATTTCAGCAACAACTGGAACAGCTCAACGCAATGGGGTTCTTAAACCGTGAAGCAAACTTGCAGGCCCTAATAGCAACAGGAGGCGACATCAATGCAGCCATTGAAAGGCTGCTGGGCTCCCAGCCATCGTAATCACATTTCTGTACCTGGAAAAAAAATGTATCTTATTTTTGATAATGGCTCTTAAATCTTTAAACACACACACAAAATCGTTCTTTACTTTCATTTTGATTCTTTTAAATCTGTCTAGTTGTAAGTCTAATATGATGCATTTTAAGATGGAGTCCCTCCCTCCTACTTCCCTCACTCCCTTTCTCCTTTGCTTATTTTTCCTACCTTCCCTTCCTCTTGTCTCCCCACTCCCTCCCTCTTTGTTTCCTTCCTTCCTTATTTCCTTTAGTTTCCTTCCTTAGCCGTTTTGAGTGGTGGGAATCAATGCTGTTTCACTCAAAAGTGTTGCATGCAAACACTTCTCTTTATTCTGCATTTATTGTGATTTTTGGAAACAGGTATCAACCTTCACAGTTGGGTGAACAAGTGTTGTCCTACAGATGTCCAATTTATTTGCATTTTTAAACATTAGCCTATGATAGTAATTTAATGTAGAATGAAGATATTAAAAACAGAAGCAAATTATTTGAAGCTCTCTAATTTGTGGTACGATATTGCTTATTGTGACTTTGGCATGTATTTTTGCTAGCAAAATGCTGTAAGATTTATACCATTGATCTTTTTTGCTATATTTGTATACAGTACAGTAAGCACAATTGGCACTGTACATCTAAAAATATTACAGTAGAATCTGAGTGTAATATGTGTAACCAAAATGAGAAAGAATACAAGAAATGTTTCTGGAGCTAGTTATGTCTCACAATTTTGTAGAATCTTACAGCATCTTTGATAAACTTCTCAGTGAAAATGTTGGCTAGGCAAGTTCAGTTAAAATATAGTAGAAATGTTTATCCTGGTATCTCTAAGTATACATTTAATTGTACAGAAAATTTACAGTGTAACATTGTGTCAACATTTGCAGATTGACTGTATATGACCTTAATCTTTGTGCAGCCTGAAGGATCAGTGTAGTAATGCCAGGAAAGTGCTTTTTACCTAAGACTTCCTTCTCAGCTTCTCCCATAAAGAGACCCTAATATGCATTTTGATTTGTAATTGGAAATGTAACTTTCACTGAAAGTGTCATGTGATGTTTGCATTACTTTTAACTGCTATGTATAAAGGAAAGTGTGTCTTTTGACTTCATCAGTTATTTCTCTTGTGCACAGAGAAAAATGCATTAAAAATGACTAAAAAAAATAAAAAATTAAAAAATGGATAAATCTTTTCTTTTTGCCTTTTGGCCCTAGGATCGTGTTTAGGAGGATTATCCCACCCCGAGATTATATAAATCTTATCCTATATTTCTCTAACTTATATGGTTTTATTTAGAAAATGTTTTGTCCTGTCTGGAATTATCTTGATGTATGGATTTAGGTATTCTAACTTTTTTGCCCCAAAGGGTTAGCCAGTTGTTAACATATTTACCTTTTCCCCCAACATATGAAATGTCATACATGTATATACTTTATTCTGTGTTTGGATTCCCTTTAGTTCCATTGAACATTGTGGCACCAGTACACCAGCCTGTAGATGAGTTAGAAATGGGACTTTGTATCTTTTAATGTGAGACCTCCTCTTGATCTTTTTTATTTTTTACAATATTCTGACGATTCTGACATGTTTATTTTACCAGATGAATTTTACAGTTAATAGATTCTTCCCCCAAAAATATATTGANNNNNNNNN
|
benign
| 335,079 |
Gene mutation in ARHGEF9 (Cdc42 guanine nucleotide exchange factor 9) at chromosome X, position 63655508—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_8']
|
TATATCTCCTACAGGTTATGCCTCTTTGGTTGAACCCTAACTGATACAAGGGGTTATAGTTAGATTCTATATTATTTATCTGGGGAGTTACTTATGATAAATTAAGTTTAAAAAAGCAACCTACAAGGTAATATATATAATATAATTTTTGTAAATATAAAAGTATTATGTTTGTATATGTTTATATGGACATGAGATAAGTATGGAAAGATGCATACTGCACTGTTAACACTGGTTATTTCATTCAGTATGGAAGTGACAGAGAAGGGGAAGGAATGCTAAGTTTTCTTTATATATTTCCATATTTGTTTAAATGGTTATAATGGTCATGCATTAATTTTATAATTAAAAAGTAAAAGTTTAAAAAAGCTATGATAAAACTATATGACCCTCATAAAATAATGATTAAAAATATGAAGTGATCTGATAGAAATGCTAATGATATAATGATGAGTGAAAATGAGGATACAAAATTATATCTATCCACTATAGAGAGGCAGGTATGGGGAGAGAAAGAAAAAAGATTCAGTCACCTTGATTTTTCTAATTAGACACATAAAAAAGGCTGGAAATATATATCAAAATGTTTATGAAAGTTATTACTGAGTATGTTCATGTGTTTTTTTTTTTTCTTGTACTTTTCTGTTGCTTTTTCCCTAAATTTCCTACAATGGAAGTGATTTACTGTTATTATCAAACCAAAAAAAAAAAACCTCAACATTTTTAAAGATGAACATATGCCTGTTCAGAAAGTAATTTCTAGAAGCTTTTCTATTAGAAGCAGATAAAGTCACAGGTTTATTAGGGCATTGTGTGGGAGACATTGTGTTAGAGCCAATGGGAATGGCAGGGGCCTTCTAATTGATTCAGGGTCTGAACACTAAGACCATTCCTTTAATAACTCTAACAGCCTAGGCAAGGTCAGTGGCTGCTGCTGCTTGCTATTGAGAGAAGTAGCCAGCAACATTTATATGCCACTCCACATCATGTCCCAATGGAGTGTCCACATACTGAAAGCAGTCTGATTCCAATGAGACTCAAAGTGAGTTATTAATTTGCACTCTACCCAAGTTCTGAGGAGAAGACTGGAGTTAGATTTGTCTTTCTGACCATCCTTTCTTACCTCTGGATAATTTCAATCGCCCACATGGAAGGATAAGAGAACCCTTTTGCACCAGGATTCAATGAGTAGGCCCATTTTTCTAGAGACAATTTCCATAAACTTGAGCTTTCAGGCCTTCTAAAGTACAATTTCACTCCCATAAGCAATAGGGCAAAGACAGAAACTGTATGTCTTCTCAGGGAATTAACAAGTCTGGTTGCTTGGTATTTTTTATGACAGAAAGGCAGGACCATGAGCAAGAGACCAGACAGTACTTTATAAGTCACAAAGCTATAGCCAATGGCGTCTAAATCCCACAGTTGGGAAGCAACATGAAAAATATCTCTACTATCTATATCCCCACTGGAAAAGAGAAACAACTTATTGTAAGGCAAAAAAGTATGTTTCAGTGTGATTTGAAATCATGAAAATGGTCATGGTTTTAAGTCCTGTTATATTTTCTATAATTTACTTTAAATACTTCCACACAGAAAGTGTGAAGTGTATGTGCATATTATTTGAATCTACAGTCTAGGGGGATTTAGTTAACATCTGAAGTATCCTAATCAGGAGTACAAACTATATACCTAATGACAGAGAGCTCAGGCTTTATGAAGATTACAGAACAGGTTGTATAACTGATTTTTGTTTATTTGCTAATAAATGTATGTTTGGGAGAATCAAGCCTGAGGCTGGCTTTCAGTGTGATATTCTTAGCTAGTAGGGGAGGACAACCTATAGTTCAAACCTACCACTGACTAATGGAAGCTATTGGTACTTACCAAAAAGAACCTAATAATAAGGAACCACCAAAGTAGCTTAAGTCAGTTTGCAACAGAAATCTTCCCTCTGACTCCAAGAAAATGGAAACCAATTCAAACCTCCTATGTTCTTCATAGCCATGTTCTTCTTTCTACTCTCAGGTCACTTACCAATTTTTTCATCTTCCTGTACCATTTTCCTCTCTTCTCTGAAAGCCCTGAGCCAGCGTATTTTTTCCTCCAGCTTCTTGGCAAAGAACAGATGTATCTCCTCAGTCTCCTTGTTGTGAAGCTTAAAGGCATTCTTCATGCTGACATTGAAGTCATCATCTCTGCCATCCTCAATGTCAACTACCTCATATTTATCCATGTCAATGCGGCCTTTGTAGTACAGGATGTCTCTCCGGATTAGGTCCTAGATGGGAAGGAAGAGGTTTCTTGAAGGTATGTGCACGGCGAGTACTAGAAGAGTTGGCACAGGGGCACAGCAGAATGCTAACACTGTCACCGTTTTGAAGTACCAATGGGGGTTGGTTTGTTCTAAATTTGGCCAGGTTATACTAGTAGTCTGACACTGACAGGTTGGTTAACTAGATGCCCAAAGAAAAAGCCTCTGTCTCACCTCGAAAGATCATTTCAGACACCAGAATCAATCCTTGGACGTGTGTGCAAGTCTGCTGATGGGAGGTAGGAAACAGTAAGCCACATAAACACGGCTAGCAAGGGCTTCTCCTTTTCGAAAACATCAGCAAGCCCACTAGAGGTATGAAATGAGCTGGCTGGTTGCCTGGAGTGTGTTCAAATATCTGTGCAGGCCAGTGAGACCTGAACATCAGAGGGGGACTGAGTAGTAAGAGTAGCTAGGAGGCCACAGACTGCTGGCAAAGGATTACCTAGGGGGGGTCTAACACTTAGCACTCTGGGGATTTTTAGAAAAGGCCCAGTCTGCCAAGAGAAATGGAGGTAAAATTAAATAAAGAAGTTCACATATCAACACAGATGAATGTCACAAATCTTATGGAGAAAAACAGAAGTTGTAGATGGATACAAACAGTATGTCGCCTATTTGTTATTGTTGTTTTGCTCTCATAGACACAAAATTGGATTAATCCTAACCCTAGTCCATGAGACACTCATAATTGGTCCATGCATGGCATTTTTATTTCTCTATTTATTCATTTACTTACTTATTTTAATAATATAAAGTACTGGTGAATCTGCCACCAATCCCAAAGTTACAACTCCAAGGCATCCTCCATCCTAAATCCTATGTTCATCATTTCCATGGTTTCCTTTCTATATAGTTTTACCTCATCTGTATCTGTTACCTTGAAAAACATACAAAAAAATGCCACATAATGTTTAAAGATACATATGTATGTAGAAAATTATAAAGAAATAAGTGACAATGATATATGCCACGTTCCAGACAGTACAGAGCAGAAAACGGGGAGGGGCAAGAGAGGAAGGGGAAGAAAAAGAAGCAGAAGAGAGGGTGGGAAGGAAAACTATTTGTAATGAATTATTTCTTAATGCGGATAGTAAACACGTGGGTACTCATTATATTATTTTTATATCTTTTTGAATGTCAAATATTTCATAAGTTAAAAAGGAAAATAGAGGGATGGAAGAAATGACATATAGGCCTATGGAATGTCAGATCTTATAAATATCTTGGAGTGGCCTTTCAGCCCCTCCTCCTCTTGGCGCTGCCCTCAGCCTCCTCTGAGAACACATCCACTGCTGGGAGATGTGGTATGGCTGAGTCAGGTTGAGGAAGGCCCCTATGAGTCCTGTCCTGACAGATATCTTCGGGCCAGCTCTCCCTCCTCTCTGCTTTATCTGCTCTTTCAGTCAGCTGGACAGAGTCAGAAATGCTCATTAATTTTTATTAGCATTTTACAGTTCAATTAAACCATTTCCATTCTACTGAATTGCCTAACTTGACTCACTTCTCAGCTGTGTGCTCCCTATGAAGGATCTTCTTTTGCCCACTCACATTCCCAATCCTAACTCTTCACATTGTGCGGTATACTGAGATTTTCAGTTGGGCTGGGAAAGGCTACCTTGCAGGATTCCCAGCATAGCAAGGTTTCCCAGCATAGCTCTGTCAACCTCAAAGGCCCAGGCTGGAAAATACAGATGTCGTTGAATTGCTTTTGAAAAAATAACAATCATGTTACTTTTTTCCTCCCATAATGATTGTTCATATAAATAAGAAAAGAATATAGAT
|
TATATCTCCTACAGGTTATGCCTCTTTGGTTGAACCCTAACTGATACAAGGGGTTATAGTTAGATTCTATATTATTTATCTGGGGAGTTACTTATGATAAATTAAGTTTAAAAAAGCAACCTACAAGGTAATATATATAATATAATTTTTGTAAATATAAAAGTATTATGTTTGTATATGTTTATATGGACATGAGATAAGTATGGAAAGATGCATACTGCACTGTTAACACTGGTTATTTCATTCAGTATGGAAGTGACAGAGAAGGGGAAGGAATGCTAAGTTTTCTTTATATATTTCCATATTTGTTTAAATGGTTATAATGGTCATGCATTAATTTTATAATTAAAAAGTAAAAGTTTAAAAAAGCTATGATAAAACTATATGACCCTCATAAAATAATGATTAAAAATATGAAGTGATCTGATAGAAATGCTAATGATATAATGATGAGTGAAAATGAGGATACAAAATTATATCTATCCACTATAGAGAGGCAGGTATGGGGAGAGAAAGAAAAAAGATTCAGTCACCTTGATTTTTCTAATTAGACACATAAAAAAGGCTGGAAATATATATCAAAATGTTTATGAAAGTTATTACTGAGTATGTTCATGTGTTTTTTTTTTTTCTTGTACTTTTCTGTTGCTTTTTCCCTAAATTTCCTACAATGGAAGTGATTTACTGTTATTATCAAACCAAAAAAAAAAAACCTCAACATTTTTAAAGATGAACATATGCCTGTTCAGAAAGTAATTTCTAGAAGCTTTTCTATTAGAAGCAGATAAAGTCACAGGTTTATTAGGGCATTGTGTGGGAGACATTGTGTTAGAGCCAATGGGAATGGCAGGGGCCTTCTAATTGATTCAGGGTCTGAACACTAAGACCATTCCTTTAATAACTCTAACAGCCTAGGCAAGGTCAGTGGCTGCTGCTGCTTGCTATTGAGAGAAGTAGCCAGCAACATTTATATGCCACTCCACATCATGTCCCAATGGAGTGTCCACATACTGAAAGCAGTCTGATTCCAATGAGACTCAAAGTGAGTTATTAATTTGCACTCTACCCAAGTTCTGAGGAGAAGACTGGAGTTAGATTTGTCTTTCTGACCATCCTTTCTTACCTCTGGATAATTTCAATCGCCCACATGGAAGGATAAGAGAACCCTTTTGCACCAGGATTCAATGAGTAGGCCCATTTTTCTAGAGACAATTTCCATAAACTTGAGCTTTCAGGCCTTCTAAAGTACAATTTCACTCCCATAAGCAATAGGGCAAAGACAGAAACTGTATGTCTTCTCAGGGAATTAACAAGTCTGGTTGCTTGGTATTTTTTATGACAGAAAGGCAGGACCATGAGCAAGAGACCAGACAGTACTTTATAAGTCACAAAGCTATAGCCAATGGCGTCTAAATCCCACAGTTGGGAAGCAACATGAAAAATATCTCTACTATCTATATCCCCACTGGAAAAGAGAAACAACTTATTGTAAGGCAAAAAAGTATGTTTCAGTGTGATTTGAAATCATGAAAATGGTCATGGTTTTAAGTCCTGTTATATTTTCTATAATTTACTTTAAATACTTCCACACAGAAAGTGTGAAGTGTATGTGCATATTATTTGAATCTACAGTCTAGGGGGATTTAGTTAACATCTGAAGTATCCTAATCAGGAGTACAAACTATATACCTAATGACAGAGAGCTCAGGCTTTATGAAGATTACAGAACAGGTTGTATAACTGATTTTTGTTTATTTGCTAATAAATGTATGTTTGGGAGAATCAAGCCTGAGGCTGGCTTTCAGTGTGATATTCTTAGCTAGTAGGGGAGGACAACCTATAGTTCAAACCTACCACTGACTAATGGAAGCTATTGGTACTTACCAAAAAGAACCTAATAATAAGGAACCACCAAAGTAGCTTAAGTCAGTTTGCAACAGAAATCTTCCCTCTGACTCCAAGAAAATGGAAACCAATTCAAACCTCCTATGTTCTTCATAGCCATGTTCTTCTTTCTACTCTCAGGTCACTTACCAATTTTTTCATCTTCTGTACCATTTTCCTCTCTTCTCTGAAAGCCCTGAGCCAGCGTATTTTTTCCTCCAGCTTCTTGGCAAAGAACAGATGTATCTCCTCAGTCTCCTTGTTGTGAAGCTTAAAGGCATTCTTCATGCTGACATTGAAGTCATCATCTCTGCCATCCTCAATGTCAACTACCTCATATTTATCCATGTCAATGCGGCCTTTGTAGTACAGGATGTCTCTCCGGATTAGGTCCTAGATGGGAAGGAAGAGGTTTCTTGAAGGTATGTGCACGGCGAGTACTAGAAGAGTTGGCACAGGGGCACAGCAGAATGCTAACACTGTCACCGTTTTGAAGTACCAATGGGGGTTGGTTTGTTCTAAATTTGGCCAGGTTATACTAGTAGTCTGACACTGACAGGTTGGTTAACTAGATGCCCAAAGAAAAAGCCTCTGTCTCACCTCGAAAGATCATTTCAGACACCAGAATCAATCCTTGGACGTGTGTGCAAGTCTGCTGATGGGAGGTAGGAAACAGTAAGCCACATAAACACGGCTAGCAAGGGCTTCTCCTTTTCGAAAACATCAGCAAGCCCACTAGAGGTATGAAATGAGCTGGCTGGTTGCCTGGAGTGTGTTCAAATATCTGTGCAGGCCAGTGAGACCTGAACATCAGAGGGGGACTGAGTAGTAAGAGTAGCTAGGAGGCCACAGACTGCTGGCAAAGGATTACCTAGGGGGGGTCTAACACTTAGCACTCTGGGGATTTTTAGAAAAGGCCCAGTCTGCCAAGAGAAATGGAGGTAAAATTAAATAAAGAAGTTCACATATCAACACAGATGAATGTCACAAATCTTATGGAGAAAAACAGAAGTTGTAGATGGATACAAACAGTATGTCGCCTATTTGTTATTGTTGTTTTGCTCTCATAGACACAAAATTGGATTAATCCTAACCCTAGTCCATGAGACACTCATAATTGGTCCATGCATGGCATTTTTATTTCTCTATTTATTCATTTACTTACTTATTTTAATAATATAAAGTACTGGTGAATCTGCCACCAATCCCAAAGTTACAACTCCAAGGCATCCTCCATCCTAAATCCTATGTTCATCATTTCCATGGTTTCCTTTCTATATAGTTTTACCTCATCTGTATCTGTTACCTTGAAAAACATACAAAAAAATGCCACATAATGTTTAAAGATACATATGTATGTAGAAAATTATAAAGAAATAAGTGACAATGATATATGCCACGTTCCAGACAGTACAGAGCAGAAAACGGGGAGGGGCAAGAGAGGAAGGGGAAGAAAAAGAAGCAGAAGAGAGGGTGGGAAGGAAAACTATTTGTAATGAATTATTTCTTAATGCGGATAGTAAACACGTGGGTACTCATTATATTATTTTTATATCTTTTTGAATGTCAAATATTTCATAAGTTAAAAAGGAAAATAGAGGGATGGAAGAAATGACATATAGGCCTATGGAATGTCAGATCTTATAAATATCTTGGAGTGGCCTTTCAGCCCCTCCTCCTCTTGGCGCTGCCCTCAGCCTCCTCTGAGAACACATCCACTGCTGGGAGATGTGGTATGGCTGAGTCAGGTTGAGGAAGGCCCCTATGAGTCCTGTCCTGACAGATATCTTCGGGCCAGCTCTCCCTCCTCTCTGCTTTATCTGCTCTTTCAGTCAGCTGGACAGAGTCAGAAATGCTCATTAATTTTTATTAGCATTTTACAGTTCAATTAAACCATTTCCATTCTACTGAATTGCCTAACTTGACTCACTTCTCAGCTGTGTGCTCCCTATGAAGGATCTTCTTTTGCCCACTCACATTCCCAATCCTAACTCTTCACATTGTGCGGTATACTGAGATTTTCAGTTGGGCTGGGAAAGGCTACCTTGCAGGATTCCCAGCATAGCAAGGTTTCCCAGCATAGCTCTGTCAACCTCAAAGGCCCAGGCTGGAAAATACAGATGTCGTTGAATTGCTTTTGAAAAAATAACAATCATGTTACTTTTTTCCTCCCATAATGATTGTTCATATAAATAAGAAAAGAATATAGATN
|
pathogenic
| 335,100 |
The chromosome X, position 63674177 genetic variant in gene ARHGEF9 (Cdc42 guanine nucleotide exchange factor 9): benign or pathogenic? If pathogenic, indicate disease(s).
|
benign
|
AGACCCCAAAGAGTTCTCTCATCCTTTCTGCCATGTGAGGTTACAATGAGAAGACAACAGTCTATGAAGAGGGCCCTCACCAGGCACTGAATCTACTGGTTCCTTGATCTTGGACTTCCCAGCTTCCACAATTATGAGAAATAAATTTCTGTTGTTTATAAGCCACCCAGTCTATGGTATTTTGTTATAGCAGCCTGAATGAAGTAGGATGTCAATTTAGATGAAGAAAGGCTTCACCAAGCAGGAGCGTACAAGGGATGTGTGGGCTTACATGAGATTAGAGTACCAATCAATCAGGCTAATAAAGGAGGCAGACACTGTTAGAACTGTGTTTTTGTGGCCCCATTCAGACATACATGCAGGAAATTCCTTCTGAGATGCTGAGTGTTTAAATCATAGCTCAGTGTTATTGAGCTTGGTGCTACTGAAGCTCCCTGAGTAGGCCAGGTAATTTCATGCTATTTTTGGTTCCCCATGGCTCCTGCTCCAAGGACTGATGTCCCAGAGCACACAGGGGAATCAGAAAGTCTTCTAGGCATTGGGAAGTTGGGGAGATGCTCCAGGGAATAGGAAGACAACTGCTGCTGGGCACCTTCTCTTACAAAAAACCCTGCCAACGAGAGAGAATAAGGCCAGCTAATCCACCTTAATTTTAGAGTGTCTTAGAGTTGATGGGCTTGCTAGAAGTCATTTGGTCCAGCTCTCTGCCTTTAATCAGGCAAATGGCCAAAGCAATGCCAACACAAGGAAAAAAGGACCCACAATTTTCTAGTAAGTCTGGCCCAGTGCTGGCTTCTGCTTAAGAGAATGAGGGTCTCTTCATCTAGACAAATTCCTTTCTCTGCAAATCAAAGTGCTGTTCTACTTATATGGGAACATTATCCTTCAAATATAGCCCAAAAGGATGTCAGCTGATCAGAATTGTGGTCTTTTTCAGCAATCTACATTAAGGTAGGACAGAGGTAGCAGAATAAAAGGAAAGTGACTTTTTTCTGGGCCTTGGTTAAGCAGCTGTTTGTGAGGATGATGCTTGGTTCCCTTGGAACGGGCTAAAATACTTTAAGTATTAAGAGAAATACTACCTCTTAATCACTGAAAATGACACTTGAGTTGAGGTCAGTGGAATAGGGAGCAGACCCTACCTCTATATTGTGACCACAAGGCTTAAGATTGCTAATCCCTCCCTAGTAGCACGTCCAGCCTCTCCTATCTTGGTTATTTTAGCCAGCAGACTATCAGATTGCACAACCTGGGCCTGCAAGACATATGTGAAATGTCATTACTCCTGATACTTTTGGTGGGCATCTAGGAAGGGAAGGTCTTTCAGAATTCAGAGAAGTCATGGCTGTCTGCAATGAAATAATCAGGGATTATTTTAAAAACAGATGTGAAAACTGTGGATTTGGCAGGGATGATGGTTGTGGCCTATAGTGTACAGGCCTAATAGAGAGACCTAATAGATGTGCTAGGGTGAGGTGGTATCACCGATAAAAAAAAAAGTATGTTGGCTGTCCTGCATGGTTGGGAACAGGAGAACCAACCTCGTATTCTGTGTCTGGAAGTAAATTAGTATATACTATTTCTTATCTAAGTGTGAATCTGTTGGTCATAAATCCAGAAAGAGCTTTGAAAGGCTACTGAATCAACCCTAATTGTTCCTTGGCAATACCTGAAGAAATGAACCTTTCATTTCTTAATGAGGTATCATCACAAAAATTTCTCCAAGCTTCTTAGAAAGTTATTCAAGTATCCAACACTTCTCATTAGCAAGAAATTTTACCTTGAGTCTAATCTAAATCCTTACTGTTGCTCTTCAAATGTAATTTCTCTTCACCTGTCCTTAGCTAAGATGGGAAGCTTTTGCCAAGCTATTCAGATTTCCCAATACCCTGGTTGGTAAGTTTCCTACCTCCCAGTCTAGGACAGAAGCCTGCCACTGAGCAATCTTGTCAATATTCTCTAAACGTCGCTTGCGTTCGTTGATCTGCTGAGTCACATTTCTCATGACAGCCAAAGCAGCTGCCACATACCTGTAGTCACTGTGAAAACAAAAGAGTGCAAGTTGAACCAACCAATGTGCCAAAGAACCAATGTGCTAGGTGCCAATCTTAACATCCACTCTCCTCTACCTCCTTAGTAACAGAGTCCTGATTTTCAGATGGGAACCCACACCACCTAAAGACTACATTTTCTATCTTTTGTTTCAGCAAAAATGACTATGCAAGTAAGTTTTGTACACTGATATGTAAATAGAAGTGTTGCGTAGTGTAAGAATTAAAGAAAGAGGAGAGAAACATGAAGGATGGCTTTTCAGTCAACAGGGACAGGTTGATTTTAAATAAACCTGAGAGGAGCGGCTGGCCGAGTTAGGTCAGAGCCACACTTTCTTACAGACTAAGAGTTTTTAAGGATTCAGGGTGGGAGACTTTATCAGAGGCATAGACTGCTTTTGCGCCTCTTTGTTGTGCTTATCTGGGAAGAGAGAGTTGTGTGTCTGTTCCCATACATCTTTTTGCAGCTGCAGGCATATCCCCTGAGTCTGCTTTCATCTTCTCTATCTTAGTGCACCTGAAGGAAAAGGAATGTGTTTATTAACGCCCACTGTTTTACTGGGGCCCATTGTATGAGGGTGAAGTTTGGCAGTTACTCAAGAGACTTTCCCCCCTACCTCCTTCTGTGCCTGAGCTCTCTTACTGTCTGCTCTTTCTGGCTGCTTGTAGTTAGAAAAGAAGTGATTTCCTTGAAATGCATGAGGCTAGAAAGGGAGCTGGAACTTGAAGTGGCAGTGTTTGTCCAAGATGACGGTGCTCCTGCTCTATCAGGTAGGCCTTCTGAGAAATCACCTTTAAGGTAGAGAGCATACGCTTCTTTAGCCTTTACTCAATCCTGATGCTTGGAATGTTGATGTGATGGCCGAACCTCTGGTAGCCATCTTGGACCATAAGGACAAGGTCAATACCCTAGGTATAGGATAGTAGATAGCTGTAGGGTGCTCATGTTTCTGATGACCATGAGGCCACCATACCAGTCATAAACTTCAGAATACATACTTCTTTTACATGAGAGACAAATGGACCACTATTTTGTTACATCACTTTTTTTGTGTCCTATCTGATACAGCCAGCCAAGGACCAAGAAGGGAGCCTCACACATGACACAGTATAGACCACCTTATCATCTCTTCCATCATCTATTTCTATGGAGCTTCTGCCCAAAATCACTCTGAAATATCCTCACGTTTGCTTTTGCACAATATAGAAACAGAATGTAGCACAGTGGGTAAGAGCATAAAGTCTGAAGCCAGACTTTGTGGGATCAAATGCCAGTTTTTCTCACTGACTAGCAGTATGGCCTTTGGCAAGCCTCACTCCCTCTCTCATTGACTCAATTTCCTCATCTGTAAAATGGGGAAAAGTATAGTTTATTGAAGGTTTCATAAATTAAATACAATCATCCATGTAAACTATTTTACTCTTGGCATATAACAAATGTTAGCAGTACTATTATTACAAATCAAACATTTCCGTAGTAGAGCCATCACATGGGATGCCTCTTAAAACCCCTAGTCTCAGACGTGTAACCCTTGGCCCCACATCCTGGGACTCTGGATAGCAGACGTGTTGAGAGTTACATATCCTATCCAGTTTTTTTCTGCTGTTCTTTTCTGATTTGCAATCAAATGGCTCTTGGGAAAGGCAGATTGATAGTGAGATCTCAGCCATTCAGTGGGGGCAAAAATAAACTGAGAAGACAAGAGGATGCCTTACAGTTCAGTGTTAACACCTTTCTTTAGAGAAACTGAAAATGCCTTGTGGTCACTAGTCTGCTTAATCTCTCAGTACCATTTTTTAAAAAAGGAAGGAGAAAAAAATAGATGTGCAACAACCGCACATCTTTGCACAACTGCACAACTGCACACCCACAACATTGAATAGTGGGTTGATGGACCAAAGAAAGGCAGAGGAAAGGGACTTCTAATTGCCAGGGCAGATCCTACGTAGTACCTCCTCCTAGTTCACATCCCTCACTCCAATCTGTGATCTGCACACCTGTCAGAGCCATGGCTCTCAAACAATGTTACATTATCACCTCCAGT
|
AGACCCCAAAGAGTTCTCTCATCCTTTCTGCCATGTGAGGTTACAATGAGAAGACAACAGTCTATGAAGAGGGCCCTCACCAGGCACTGAATCTACTGGTTCCTTGATCTTGGACTTCCCAGCTTCCACAATTATGAGAAATAAATTTCTGTTGTTTATAAGCCACCCAGTCTATGGTATTTTGTTATAGCAGCCTGAATGAAGTAGGATGTCAATTTAGATGAAGAAAGGCTTCACCAAGCAGGAGCGTACAAGGGATGTGTGGGCTTACATGAGATTAGAGTACCAATCAATCAGGCTAATAAAGGAGGCAGACACTGTTAGAACTGTGTTTTTGTGGCCCCATTCAGACATACATGCAGGAAATTCCTTCTGAGATGCTGAGTGTTTAAATCATAGCTCAGTGTTATTGAGCTTGGTGCTACTGAAGCTCCCTGAGTAGGCCAGGTAATTTCATGCTATTTTTGGTTCCCCATGGCTCCTGCTCCAAGGACTGATGTCCCAGAGCACACAGGGGAATCAGAAAGTCTTCTAGGCATTGGGAAGTTGGGGAGATGCTCCAGGGAATAGGAAGACAACTGCTGCTGGGCACCTTCTCTTACAAAAAACCCTGCCAACGAGAGAGAATAAGGCCAGCTAATCCACCTTAATTTTAGAGTGTCTTAGAGTTGATGGGCTTGCTAGAAGTCATTTGGTCCAGCTCTCTGCCTTTAATCAGGCAAATGGCCAAAGCAATGCCAACACAAGGAAAAAAGGACCCACAATTTTCTAGTAAGTCTGGCCCAGTGCTGGCTTCTGCTTAAGAGAATGAGGGTCTCTTCATCTAGACAAATTCCTTTCTCTGCAAATCAAAGTGCTGTTCTACTTATATGGGAACATTATCCTTCAAATATAGCCCAAAAGGATGTCAGCTGATCAGAATTGTGGTCTTTTTCAGCAATCTACATTAAGGTAGGACAGAGGTAGCAGAATAAAAGGAAAGTGACTTTTTTCTGGGCCTTGGTTAAGCAGCTGTTTGTGAGGATGATGCTTGGTTCCCTTGGAACGGGCTAAAATACTTTAAGTATTAAGAGAAATACTACCTCTTAATCACTGAAAATGACACTTGAGTTGAGGTCAGTGGAATAGGGAGCAGACCCTACCTCTATATTGTGACCACAAGGCTTAAGATTGCTAATCCCTCCCTAGTAGCACGTCCAGCCTCTCCTATCTTGGTTATTTTAGCCAGCAGACTATCAGATTGCACAACCTGGGCCTGCAAGACATATGTGAAATGTCATTACTCCTGATACTTTTGGTGGGCATCTAGGAAGGGAAGGTCTTTCAGAATTCAGAGAAGTCATGGCTGTCTGCAATGAAATAATCAGGGATTATTTTAAAAACAGATGTGAAAACTGTGGATTTGGCAGGGATGATGGTTGTGGCCTATAGTGTACAGGCCTAATAGAGAGACCTAATAGATGTGCTAGGGTGAGGTGGTATCACCGATAAAAAAAAAAGTATGTTGGCTGTCCTGCATGGTTGGGAACAGGAGAACCAACCTCGTATTCTGTGTCTGGAAGTAAATTAGTATATACTATTTCTTATCTAAGTGTGAATCTGTTGGTCATAAATCCAGAAAGAGCTTTGAAAGGCTACTGAATCAACCCTAATTGTTCCTTGGCAATACCTGAAGAAATGAACCTTTCATTTCTTAATGAGGTATCATCACAAAAATTTCTCCAAGCTTCTTAGAAAGTTATTCAAGTATCCAACACTTCTCATTAGCAAGAAATTTTACCTTGAGTCTAATCTAAATCCTTACTGTTGCTCTTCAAATGTAATTTCTCTTCACCTGTCCTTAGCTAAGATGGGAAGCTTTTGCCAAGCTATTCAGATTTCCCAATACCCTGGTTGGTAAGTTTCCTACCTCCCAGTCTAGGACAGAAGCCTGCCACTGAGCAATCTTGTCAATATTCTCTAAACGTCGCTTGCGTTCGTTGATCTGCTGAGTCACATTTCTCATGACAGCCAAAGCAGCTGCCACATACCTGTAGTCACTGTGAAAACAAGAGTGCAAGTTGAACCAACCAATGTGCCAAAGAACCAATGTGCTAGGTGCCAATCTTAACATCCACTCTCCTCTACCTCCTTAGTAACAGAGTCCTGATTTTCAGATGGGAACCCACACCACCTAAAGACTACATTTTCTATCTTTTGTTTCAGCAAAAATGACTATGCAAGTAAGTTTTGTACACTGATATGTAAATAGAAGTGTTGCGTAGTGTAAGAATTAAAGAAAGAGGAGAGAAACATGAAGGATGGCTTTTCAGTCAACAGGGACAGGTTGATTTTAAATAAACCTGAGAGGAGCGGCTGGCCGAGTTAGGTCAGAGCCACACTTTCTTACAGACTAAGAGTTTTTAAGGATTCAGGGTGGGAGACTTTATCAGAGGCATAGACTGCTTTTGCGCCTCTTTGTTGTGCTTATCTGGGAAGAGAGAGTTGTGTGTCTGTTCCCATACATCTTTTTGCAGCTGCAGGCATATCCCCTGAGTCTGCTTTCATCTTCTCTATCTTAGTGCACCTGAAGGAAAAGGAATGTGTTTATTAACGCCCACTGTTTTACTGGGGCCCATTGTATGAGGGTGAAGTTTGGCAGTTACTCAAGAGACTTTCCCCCCTACCTCCTTCTGTGCCTGAGCTCTCTTACTGTCTGCTCTTTCTGGCTGCTTGTAGTTAGAAAAGAAGTGATTTCCTTGAAATGCATGAGGCTAGAAAGGGAGCTGGAACTTGAAGTGGCAGTGTTTGTCCAAGATGACGGTGCTCCTGCTCTATCAGGTAGGCCTTCTGAGAAATCACCTTTAAGGTAGAGAGCATACGCTTCTTTAGCCTTTACTCAATCCTGATGCTTGGAATGTTGATGTGATGGCCGAACCTCTGGTAGCCATCTTGGACCATAAGGACAAGGTCAATACCCTAGGTATAGGATAGTAGATAGCTGTAGGGTGCTCATGTTTCTGATGACCATGAGGCCACCATACCAGTCATAAACTTCAGAATACATACTTCTTTTACATGAGAGACAAATGGACCACTATTTTGTTACATCACTTTTTTTGTGTCCTATCTGATACAGCCAGCCAAGGACCAAGAAGGGAGCCTCACACATGACACAGTATAGACCACCTTATCATCTCTTCCATCATCTATTTCTATGGAGCTTCTGCCCAAAATCACTCTGAAATATCCTCACGTTTGCTTTTGCACAATATAGAAACAGAATGTAGCACAGTGGGTAAGAGCATAAAGTCTGAAGCCAGACTTTGTGGGATCAAATGCCAGTTTTTCTCACTGACTAGCAGTATGGCCTTTGGCAAGCCTCACTCCCTCTCTCATTGACTCAATTTCCTCATCTGTAAAATGGGGAAAAGTATAGTTTATTGAAGGTTTCATAAATTAAATACAATCATCCATGTAAACTATTTTACTCTTGGCATATAACAAATGTTAGCAGTACTATTATTACAAATCAAACATTTCCGTAGTAGAGCCATCACATGGGATGCCTCTTAAAACCCCTAGTCTCAGACGTGTAACCCTTGGCCCCACATCCTGGGACTCTGGATAGCAGACGTGTTGAGAGTTACATATCCTATCCAGTTTTTTTCTGCTGTTCTTTTCTGATTTGCAATCAAATGGCTCTTGGGAAAGGCAGATTGATAGTGAGATCTCAGCCATTCAGTGGGGGCAAAAATAAACTGAGAAGACAAGAGGATGCCTTACAGTTCAGTGTTAACACCTTTCTTTAGAGAAACTGAAAATGCCTTGTGGTCACTAGTCTGCTTAATCTCTCAGTACCATTTTTTAAAAAAGGAAGGAGAAAAAAATAGATGTGCAACAACCGCACATCTTTGCACAACTGCACAACTGCACACCCACAACATTGAATAGTGGGTTGATGGACCAAAGAAAGGCAGAGGAAAGGGACTTCTAATTGCCAGGGCAGATCCTACGTAGTACCTCCTCCTAGTTCACATCCCTCACTCCAATCTGTGATCTGCACACCTGTCAGAGCCATGGCTCTCAAACAATGTTACATTATCACCTCCAGTNN
|
benign
| 335,113 |
For chromosome X, position 63678579, gene ARHGEF9 (Cdc42 guanine nucleotide exchange factor 9): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
benign
|
GGGGATCTTTTGGGCTCTGTGACATCACCGAAGTTTCTCCTTGGCAAGATGTCTGAGCCTGACACTTAGAAGGAGGTAGAGTGGTGACAGAAGGGAAGATTGCAGCACAGAAGCTGCTAACATAAGTAAGTGCTCCTGCTCTTTGGACCCATTTTCTGCCCCTGTACCTTTCCTTTCTCTGATTTGAGGAGATCAGTGCTCTAAACCACTTTCTTGGAAGTAAAGCACAGAGCTGTACTGTCCAACATGGTAGCTATTAGCCATATTTAATCAAAATTAAGTAAAATTTAAAATTTAGTTCCTCAGTTGCACTAGCTATGTTTCTTAGTACTCAAGTAGTCACATGTGGTGGGTAACTACTATATTGAATAACACAAATATAGACTATTTGCATTGTTGCAGAAAGTTCTACTGGGCAGTCCTGGCATGACAATGTTCATTTCCTCTACACCAAGACTACTCAGTCATGGATTCCTCACTGTCAGTGTCCCATACTGCCTATTTTTGCCATCTTTAGCTGGCTGCCTTTCTCAAAATGGCTAGAGGGGGAATGTGCCCATCTCTAACCTGTCCTACTAGTTTTAGCAGTCGGCAGGAGAAGAAAGGAATAGCTGTGGTCCAGCCTAACCCTGGTCAAAGCCCTCAGATGAGGTCTGGGCCCAGCCTCTTATTGGGGAGAACAACAGAACAAAGATTTTCTACTTCCAGACATGTCAGCTAGCCTCCCTCTTACATGCAGTCTTCATTCTCATCAACTTAAGGAAGGTAGGGTAGGGAATTATATCAATCATCTGTAAGCAAAGTCAGTATTCTTCTCTATTTATCATTCTTCATCTAATCTTCTCCCTCAGGGGCCATTCTGACTGCCTGTATTTCAGCCCTACCTATCTGAACACCTATCTTACTAAGCTTCCAAGCTGGCATCAGCCTTTAGTTGCCTTCAAATCCGAGCTACTCTTGACATGCATGGCAGGAGCCATCATCTTAATACAGATTCCTGAGACCTGCCAAAAGGGGTTGTCTATGTCGTGGGAGTTGTGCTGGGCCCAACGGGTCACTCTGAGAAAGGGCAGAAATTGATGTCGCCTGACACTGCCTGAGCTACTCTACTGTCACTCTGGAGCGCAAGGGGTGAGAGGAGAGGGAATCAGGGACCTAGATGGCAAGAGGACTTTGAAGCAGGAGTTCCAGTCACAAGGTGAAAGTGTACAGAAATGGCAAATCCCAGGCGAATGTCCTATCTTTTTGGTGCCCACCAAACCCCCAAAAAGCTCTGAGGTTGTTTTGGCCTAAGAAACTAACATAGCTTTGAGCTATGCTTAAAAACTTTTTTCTGGAACTTTTAAGATGAATTATGCCATATATAATTTACCTAGTGAATATTATCAGTCCACAAGTATGATTTAGCTCCATTGCTTGGTCTCCTTGGGGCTAACTTTCAGACCCAGATGCATGAGCCATGGGTGTGGGCCAGTTGGTTTGGTTTACATCTTTGGGTTCGTTTTTGGATTGATGCTGCTTCTCTAACAAATCATATCTTATATGCTTTAGTGGTTCTGGAGCCCTAGGCAGATTTCAGATTTTAACCCAAATATAGTGGCAAAGGACCCTCCTTTTGTGTGAGTAACAAAGCCAGTGATAGCTCTGCCTTCTGTACCCTGTTGGCTATGAGGCAATCAAGAATGTATCATCCTGTTTTGCAGATAAGTTAACAGAAGCTCAGAAAGGGCAAAAGGACATGTATTCTCAATGAGAACCAACAGATAGAGGAAGTTCCCTCATTCACTCCTGACTCCCTCGATCCCTTACCTGTGGTCTTGGGCAGTATACTTTAGGAGCTCAGCCAACTGTAAGGGATACTTGCAGATCTTCTGCACTGGAGTCAAAAGGAAACCATCGATAGCAATGTCAATCATCTGCTGCAAGAGGCGACAGGCCTCAAAGAAGTGCTGGTAGCGGCTGTCCTTCATCAGTTTGGAGAGCTCCATGCAAGCATCCAGGTGGTTGTTACAATACTCAGAGTATATCCAGAATCCATCTTGCTGTGGGAAAAGAAAAAAAGGAAAGGAAAAGTCTACCAAGGACCCCAAAAGAAGTCTTGAAGTAATGGAAAGACAGATCATATTCTTAGGCAGAAATATTAAAATGATAATGAGTCAATTATTCTTAAATTGATTCATAATTTAATAATAAATATCAAAACAAATTATTCAGTAACAAGACAAACTGACTGTAAATTTCTTATAGAAAAATGAGTACATAGGAATAGTAGGGACATTCTGTAAAAGAAGGGTAATAAGGGAACACTGGCCCTAATAAGAGTAAAACACAGCATGGAAATAAAACTCTGGGACTGGATCACAAAAAGCAAGAGATCAGTGACTCTACTTCTGGCAATGACAGACTAAGTTGTTGCAGGCAAACCCTGCCACTGAGAGTAGCTGGAAAAGCTAAAAATATAAATAAATATCTGTTTGAAGGAATCACACAATCCAGAGCCTGATATTATCTCCATAAAATGTCCCTAAGGAAACACAATGTGATGAAGTGTTTAGAGGTAAGGAATCTAAGATGTATGCAAGTTAAAACACTAATGGCTGAGAAAAAAATGTATGAGTGTGTGTATATGTATGTATGGACATATAAATATGTACATAAAGAGAGGGGAAGAGGAGAGAGTCAGGAGAGAGAGGGAGAGCACACTCAAATGATAAGACAAAATGGTAAAATGTTAACAACAGGGGAATCTGGGTATTTTTTGTATGGTTCTTATTTTTCAACCTTTCCATAAGTTTGAAATTAATTCCAAGTAAAGTTTTAAAAAAACTCTATAATTTTTATTATATATTGACAAGTACTTAATAAAAGATAACCTGATACATTAGAATAGAAAATATTTATAAAACCCAAGAGAAACAATAGGCAATAGAAACTGATCAACAAAAAATCAAGATAGAGTTGTTATATAAGGGTTGAAAAACAAGCAAAATAGCACATAAAAAGAATAATATACCATGATCAGGACAGACTTATCCCAATGTAATTTACCACATTGACAGATTAAAGGAGAAAAATTACATGATCGTTTCAATAATGCTGAATAAGCATTTGAGAAAATAAATTTATGACAAAGACATCAGCAAACTAGAAATAGAAAGACACTACCACAATGTAATAAAGGACACCCATGAAAAACGTTAAGCTAATTACTTGGTAAAATATTGAATGCTTGCCCCTAAGATCAAAACAAGACAAAGATGCCTGTTCTCACCATTTCTAGTTAACACCGTACTGTATATCCCGGCCAGTGAAATAAGATAAAAAAGGAAATAGACAGAATATAGACTGAAAAAAGAAGAAATTAAACTCTTTTTTTCAGAGATGACATAATTGTATATGCATAAAATCCTAAGAAATCTACAAAAAAAATACTGGAACCAATTAGTGAATTTGGTTATGTGTCAGGACACAAAGTCAATGTACAAAAATCAACCGTATTCCTGTGTAATAGTAATAGACTATAGGAAATTGACATTTTAAAATACCACTTACAATGGCAGCCGAAAAAATTTTAAATACTTAGAAATCAACTTTTAGGAGAGGATGTCAGTAAGATGGCAGAGTAGGAAATATCGCCTTCCTTTCTTCAGCAAACAACAACAATTTGGTAGCTATCCATGAACAAAAAATAATTCTGGAAAAGCTTAGGGGTCCACTTAAGAAGCCACAGCAATATAGTGAAAGAAAAAGTCAGAAAACAAATACACAAAACGAGTAGGAAAAACAGTTTCATTTTGCTTGCATCACCCCGTCCCCATAGCTGGTACTGCTCATTATGAAACAGCAACTTGGATCTTGGATCTTGTGTCCTACATACAGGGAGGAGACAGGAGTGTACAACCAGCTTCCCCAGCTTTATGGGACACTGCCCTAATGACCAGCTTCAGTTTCATCCCACCCAGATCTCTGAAAAGACAGATATAGCCTAGATGTCTGGAAACAGCAGAGAGCAAAGAATAGGGATTGGTTATATCAGTATCAGCAAAGTAGCAGGAGTCGCAGTGATCTGCCGTGGCCTCTTTGGCACAGGGCCCCA
|
GGGGATCTTTTGGGCTCTGTGACATCACCGAAGTTTCTCCTTGGCAAGATGTCTGAGCCTGACACTTAGAAGGAGGTAGAGTGGTGACAGAAGGGAAGATTGCAGCACAGAAGCTGCTAACATAAGTAAGTGCTCCTGCTCTTTGGACCCATTTTCTGCCCCTGTACCTTTCCTTTCTCTGATTTGAGGAGATCAGTGCTCTAAACCACTTTCTTGGAAGTAAAGCACAGAGCTGTACTGTCCAACATGGTAGCTATTAGCCATATTTAATCAAAATTAAGTAAAATTTAAAATTTAGTTCCTCAGTTGCACTAGCTATGTTTCTTAGTACTCAAGTAGTCACATGTGGTGGGTAACTACTATATTGAATAACACAAATATAGACTATTTGCATTGTTGCAGAAAGTTCTACTGGGCAGTCCTGGCATGACAATGTTCATTTCCTCTACACCAAGACTACTCAGTCATGGATTCCTCACTGTCAGTGTCCCATACTGCCTATTTTTGCCATCTTTAGCTGGCTGCCTTTCTCAAAATGGCTAGAGGGGGAATGTGCCCATCTCTAACCTGTCCTACTAGTTTTAGCAGTCGGCAGGAGAAGAAAGGAATAGCTGTGGTCCAGCCTAACCCTGGTCAAAGCCCTCAGATGAGGTCTGGGCCCAGCCTCTTATTGGGGAGAACAACAGAACAAAGATTTTCTACTTCCAGACATGTCAGCTAGCCTCCCTCTTACATGCAGTCTTCATTCTCATCAACTTAAGGAAGGTAGGGTAGGGAATTATATCAATCATCTGTAAGCAAAGTCAGTATTCTTCTCTATTTATCATTCTTCATCTAATCTTCTCCCTCAGGGGCCATTCTGACTGCCTGTATTTCAGCCCTACCTATCTGAACACCTATCTTACTAAGCTTCCAAGCTGGCATCAGCCTTTAGTTGCCTTCAAATCCGAGCTACTCTTGACATGCATGGCAGGAGCCATCATCTTAATACAGATTCCTGAGACCTGCCAAAAGGGGTTGTCTATGTCGTGGGAGTTGTGCTGGGCCCAACGGGTCACTCTGAGAAAGGGCAGAAATTGATGTCGCCTGACACTGCCTGAGCTACTCTACTGTCACTCTGGAGCGCAAGGGGTGAGAGGAGAGGGAATCAGGGACCTAGATGGCAAGAGGACTTTGAAGCAGGAGTTCCAGTCACAAGGTGAAAGTGTACAGAAATGGCAAATCCCAGGCGAATGTCCTATCTTTTTGGTGCCCACCAAACCCCCAAAAAGCTCTGAGGTTGTTTTGGCCTAAGAAACTAACATAGCTTTGAGCTATGCTTAAAAACTTTTTTCTGGAACTTTTAAGATGAATTATGCCATATATAATTTACCTAGTGAATATTATCAGTCCACAAGTATGATTTAGCTCCATTGCTTGGTCTCCTTGGGGCTAACTTTCAGACCCAGATGCATGAGCCATGGGTGTGGGCCAGTTGGTTTGGTTTACATCTTTGGGTTCGTTTTTGGATTGATGCTGCTTCTCTAACAAATCATATCTTATATGCTTTAGTGGTTCTGGAGCCCTAGGCAGATTTCAGATTTTAACCCAAATATAGTGGCAAAGGACCCTCCTTTTGTGTGAGTAACAAAGCCAGTGATAGCTCTGCCTTCTGTACCCTGTTGGCTATGAGGCAATCAAGAATGTATCATCCTGTTTTGCAGATAAGTTAACAGAAGCTCAGAAAGGGCAAAAGGACATGTATTCTCAATGAGAACCAACAGATAGAGGAAGTTCCCTCATTCACTCCTGACTCCCTCGATCCCTTACCTGTGGTCTTGGGCAGTATACTTTAGGAGCTCAGCCAACTGTAAGGGATACTTGCAGATCTTCTGCACTGGAGTCAAAAGGAAACCATCGATAGCAATGTCAATCATCTGCTGCAAGAGGCGACAGGCCTCAAAGAAGTGCTGGTAGCGGCTGTCCTTCATCAGTTTGGAGAGCTCCATGCAAGCATCCAGGTGGTTGTTACAATACTCAGAGTATATCCAGAATCCATCTTGCTGTGGGAAAAAGAAAAAAAGGAAAGGAAAAGTCTACCAAGGACCCCAAAAGAAGTCTTGAAGTAATGGAAAGACAGATCATATTCTTAGGCAGAAATATTAAAATGATAATGAGTCAATTATTCTTAAATTGATTCATAATTTAATAATAAATATCAAAACAAATTATTCAGTAACAAGACAAACTGACTGTAAATTTCTTATAGAAAAATGAGTACATAGGAATAGTAGGGACATTCTGTAAAAGAAGGGTAATAAGGGAACACTGGCCCTAATAAGAGTAAAACACAGCATGGAAATAAAACTCTGGGACTGGATCACAAAAAGCAAGAGATCAGTGACTCTACTTCTGGCAATGACAGACTAAGTTGTTGCAGGCAAACCCTGCCACTGAGAGTAGCTGGAAAAGCTAAAAATATAAATAAATATCTGTTTGAAGGAATCACACAATCCAGAGCCTGATATTATCTCCATAAAATGTCCCTAAGGAAACACAATGTGATGAAGTGTTTAGAGGTAAGGAATCTAAGATGTATGCAAGTTAAAACACTAATGGCTGAGAAAAAAATGTATGAGTGTGTGTATATGTATGTATGGACATATAAATATGTACATAAAGAGAGGGGAAGAGGAGAGAGTCAGGAGAGAGAGGGAGAGCACACTCAAATGATAAGACAAAATGGTAAAATGTTAACAACAGGGGAATCTGGGTATTTTTTGTATGGTTCTTATTTTTCAACCTTTCCATAAGTTTGAAATTAATTCCAAGTAAAGTTTTAAAAAAACTCTATAATTTTTATTATATATTGACAAGTACTTAATAAAAGATAACCTGATACATTAGAATAGAAAATATTTATAAAACCCAAGAGAAACAATAGGCAATAGAAACTGATCAACAAAAAATCAAGATAGAGTTGTTATATAAGGGTTGAAAAACAAGCAAAATAGCACATAAAAAGAATAATATACCATGATCAGGACAGACTTATCCCAATGTAATTTACCACATTGACAGATTAAAGGAGAAAAATTACATGATCGTTTCAATAATGCTGAATAAGCATTTGAGAAAATAAATTTATGACAAAGACATCAGCAAACTAGAAATAGAAAGACACTACCACAATGTAATAAAGGACACCCATGAAAAACGTTAAGCTAATTACTTGGTAAAATATTGAATGCTTGCCCCTAAGATCAAAACAAGACAAAGATGCCTGTTCTCACCATTTCTAGTTAACACCGTACTGTATATCCCGGCCAGTGAAATAAGATAAAAAAGGAAATAGACAGAATATAGACTGAAAAAAGAAGAAATTAAACTCTTTTTTTCAGAGATGACATAATTGTATATGCATAAAATCCTAAGAAATCTACAAAAAAAATACTGGAACCAATTAGTGAATTTGGTTATGTGTCAGGACACAAAGTCAATGTACAAAAATCAACCGTATTCCTGTGTAATAGTAATAGACTATAGGAAATTGACATTTTAAAATACCACTTACAATGGCAGCCGAAAAAATTTTAAATACTTAGAAATCAACTTTTAGGAGAGGATGTCAGTAAGATGGCAGAGTAGGAAATATCGCCTTCCTTTCTTCAGCAAACAACAACAATTTGGTAGCTATCCATGAACAAAAAATAATTCTGGAAAAGCTTAGGGGTCCACTTAAGAAGCCACAGCAATATAGTGAAAGAAAAAGTCAGAAAACAAATACACAAAACGAGTAGGAAAAACAGTTTCATTTTGCTTGCATCACCCCGTCCCCATAGCTGGTACTGCTCATTATGAAACAGCAACTTGGATCTTGGATCTTGTGTCCTACATACAGGGAGGAGACAGGAGTGTACAACCAGCTTCCCCAGCTTTATGGGACACTGCCCTAATGACCAGCTTCAGTTTCATCCCACCCAGATCTCTGAAAAGACAGATATAGCCTAGATGTCTGGAAACAGCAGAGAGCAAAGAATAGGGATTGGTTATATCAGTATCAGCAAAGTAGCAGGAGTCGCAGTGATCTGCCGTGGCCTCTTTGGCACAGGGCCCC
|
benign
| 335,119 |
Evaluate this variant at chromosome X, position 64191797, gene AMER1 (APC membrane recruitment protein 1): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Cleft_palate']
|
ACAGGAGTTTTCCTTGGCCCAAAGGGTTTTCAAGTTAAACAACAACCCCCACCCCCCCACCCTTCTGCCCAACCCCTGATCCCCATTCACATGCTCAGGCCCCGTGTCCCTACTCCAGAATTGATAATAACTACTTGGCTAGGTTTCCATTCATGGCAGTGGAGGAGTAGCTGGTGGCAAGAGAGGCACCTTGCTCAGCCCTCTCCTTTGACAGGTCAAGGCTGGAAGGCCCATAGTGAGTGGGCTGAGGCTGGGGGTGCTCAGGCCGGACCCTGGGCAGCTGAGGAATGCCATGGGTGATGCCCACAGGCTTGGCCTGTGGTAGAGGGCTGGGGCTGAAGCCTCCAGAACTGGAAGAGCAACTGGGCTCATCAACAGGCAGCAGCACATCTCGAGGCCTGGCCCTCATGCTCTGGGAGGCCTGTGGCTGGAGGTTATAGCAAGGGCCCATGGGCAGGTGTAGGTGTGAGGGACGAGCTAGTTGAGGCCCAGATTCCCCAGGTGCCCTTGACTCTGGCACTGATAGTGATATTGACATGGTCATAGGAGGTATGCAACAGGTTGCCTGCCTATATGGAGACTGGCTGGAAGGCCTGTCCAACTGGTTGGGGCTTATCCAGGCAGGACCTGGCCCCACTGGAAGAGGACAGGGAGCCCAAGCAGGCCAATCATAGGCCCCTGGGGGTTCAGTATAGAGGGAAAGGGGACTGTCTCGGCTCCATTCTCCTTCTTCCTCCTCTTCGTCCTCCTCATCTGAATCTTCCTGCTGGGCCTGCAGCTCATCAGACTCGAGGTAGCCCTGGACCAAGTGGGAATTGGAGAGCTCCATCTCCAGGGTCTCTGCAGTGTCGAGAGAGCGGCTTCTCCTGTTGAGGGCCATAGCAGCAGGTGGAGGTCGAGGGTGCAGGCCAGGCAGTCCCAAGTATCGAGGGAGGCTGCTCACACCCCAGGGCAGGCCTTGGTAGAATCGACTATGGTAGTTGTTGAAGGCATGTTTGTGATAGTAGCCCAGCTCAAAGGCTTCCAAGGAGGCTGCAAGATCTTCATCATTGTGGAACTCAGGATTCTCTTCACACTTGCCTTCCCCATCCCGTTCCACATCAGCGATGTCAAAGGTCACCATGGGAGGCAGCTCAGGGAGGTTTTGAGTGAAAGATGAGTCAGAGTCAGAGCTGCAGGACATGCTGGAAAAGAGGTTCCCATTGCTGGTGAACTCTACCAGGGCCTGTGAGAAACTCACAGTGGCATTCCCTTCCTTCTCAACCTCCTCTTCCTCTGGATCTTCAGGGGGTGAATAAGTAGGGTAGGCCCTCCTGGGAGATCCTCCAAAATTTGCTTCTTGCATGTCTGGCTCAAACATGGCATCACTCTGGAAGAGCTGCATCAGGCAGGTACTTTGATCTTTCTTGGAGCAGGTTCCTTCATAACGCTTCTCCAGAGGACGGAAGTCCCTCCAGTCTGGCTCGCTGCTTGCAGTGGTGGGGAAAGCTGAGGTAATTCCCCGGTGGGAAATCTGAGAGGTCCCTGATACCCCTGCTGCCAGGCCCATCACTGATGGGCCTAAGGGCCTCATCTGATACTCTAAGACGGGCTTCTCCTGCCGGGCCTGGGTCTCTCGGACTTGAGTCTCTCTACAACGAACCTCTCGGGCCTGGGCTTCTCGGGTTCTGGCCTCCCTGCCATGAGCTTCCCAAGTGTGGGCCTCCCTGGCATAGGCTTCCCTGCCATAAGCCTCTCGAGTATAGGCCTCCCTGGCGTGGGCCTCCCTGGCATGAGCTTCTCGGGCACGTGCCTCCTGGGCCTCAAGCTGCTCCCGCCGAAGCTCCCAATACAACAACTGTTTCTGGATGGTCACTAGCCGTTCTTCCTCTGTCTCCATTGCCCCAGGTGGCCGGGAGGACAAAAAGGGCTCAAAGTTTAAGAAGGGGTCAAACATCTCAGAGCTTCGACCATGGAGGTCATAAAGGCAGTCATCTCCAGGTGGAGAGTTCTCAAGGCTGTCATCTGGCTCATAGAACTCATATAGGGCATCTCCACTGTAGCTGTCTCGGGGTAGACAATCCCTGCGGACAAGCCCCAGGGCCTCACCTGAATCATCCTCAAATCCAGGTGTGGTGGAGTCATAATAACCTTCATCACTATTGGGGGCGGATTCTTGCTGGTCACTCTGAGGAGTCAAAAGTTCCCCAGGGGCTAGGCCAGGATAAGACCTAACTGGGTCAAGGAGCATGTAGCCGTGGTGGCCTGGGGATGTGGTGGGATGGTAGCCCAGGTTCATATTGGGCCGTGGATACATTTGGGCAGTTTCCCACAGATATTCTAAGTCATCATCTTCTTCCTCCTCCTTAACCTCCTCTTCTTCCTCCTCTAATTCCACCTCTTCTTCCTCTTCTTCCTCCTCGTCATCATCATCTGGCAAGGCCATCTCCTCCCCACCTCCTTGGTAGGTCACCAGGCAGGAACTTCGCTTGGTCCCATCTCGGTTTGCTCTCTGGCCCCCAGAGGCCATGCTGTCTGTCATACTGTCCATGTCCTGTTCTGCTATTATGTCACCACAACCTGTCAATGAATCAAAGCTTTTCAGGGATGTCACATCCCCAAACAAGAGGCTCAGTGGGTCCCCCACAGGGCCATTGGGTGGGTTTACCTCTCCTGCTACTACCTTCTCCCCTGTTTCTGGGCTATGGGGCTCCTCTAGGCTACTGGCTTCAGGGGCAGGCTTGGGTTGCACATGTGCTGAGGCACAGGCCTCCATGGGTTTTTCTGGATCTTTACAGGCCATTTTCTCAGTAGCTGGTGGAGAAGGTTCTGGTGTTGGAGAAACTTTTGGCCCAGGGGCATCTTGGGGGTTAGCATTTTCCTTTCTAGGGGCTTGGAAGGTCTCCTCAAAGCAGGGCACCTGAGGGGCTGAGCTCACGTGCTCATGAGGCCTGGCTCTGACCCTCTCAGGCCCCTTGGCCCCTGGCTCACTTTGCTCAGCCCCAGTGACCTTGCTCTTCCGGTGACGGCGGATACTGCTAAAAAAGCCTTTTAGGCCTTTCTTTGGCTTGGGCATAGAGGGAAACTTCTCAGCCACAGCTTTCTCTGTGGCTCCAGCCACAGATGTCTTACATCTGGAGCCTGTCTCCAAAGCCCCATGGGCACTCTGAGAGCTGGGAAATTGGCAGGGTAACTCAGGCAAAGGCAGGGAGAAGCCAGTTCCTTCACTGACAACATCTTCAGGGCCATGGGCTGCTTCACTCAGGCCATCGTGGGTCTTGCTCTTGCTGAGACCTTTCTTGGAGCTGCCTTTCCCAGAACCTTTGCTCCGTCCCCCTCCAAAGAAACTAGGCAGAGTACAGATACCCTTCTTGCCACCAAAGAGTTTCATGGCAGTTTTCTTCAGCCTACCTGGGCCGGATGAGGATGGCTCTGAGGTTGGTCCTTCTGTCGCCTCAGCTGCCTTGTTCTTGGCTCCTTTTTCTGCTGTTTGTTCACGGGTACTCCCAGAGGCTGCAGCTCCCTTGGCCTGAGCAGCTTCATCCTTTTGGGTCTCCATGATGATGGGGACAACTGAGGTACGTCCAGCTGGAAATGCAGCCTCAGGCTTCCAGGCACTGTTATAACATTATCAGTCAGGAAGCATCACAGTGGGGTCTGGAGGAGATAGGAGAGACAAAGACAGAGAGACAGATACTAGTGAGCAAGCATCCAGGCTGGGTTTGCTTTCACCGGACGTCAGGCTTGAGTGGAACAAGAAAGAAAATGATGGAAAATGTGGGGCAAATCTTAATCCACTCGATATGCTTGGCTTGCTGGGCCAGCTCTCTCTGGGCCCCAAGGAAGCAAAACTCTACACTGAGCAACAAGAAGCCTTCATCCCCTACCTTCTTGCTGGGTCCACTCCCTTCAGACCATCCTAAGCTCAGGGGACCACTGGGCAGGGGGACCTGCAGTTGTGTGAAAGGCCTAGTGGTGCTATTGGCTGTGGGAGGTATTATCAATTATCAAAGGGGATGAGGATAGGGAGAGACAAGAAAGGCAAAAGGGATGTTGGCTCCAACATCACAGAATTTTTGAAAACCATCTGGCAAAACAGTCCATTGAGTCCTCACAG
|
ACAGGAGTTTTCCTTGGCCCAAAGGGTTTTCAAGTTAAACAACAACCCCCACCCCCCCACCCTTCTGCCCAACCCCTGATCCCCATTCACATGCTCAGGCCCCGTGTCCCTACTCCAGAATTGATAATAACTACTTGGCTAGGTTTCCATTCATGGCAGTGGAGGAGTAGCTGGTGGCAAGAGAGGCACCTTGCTCAGCCCTCTCCTTTGACAGGTCAAGGCTGGAAGGCCCATAGTGAGTGGGCTGAGGCTGGGGGTGCTCAGGCCGGACCCTGGGCAGCTGAGGAATGCCATGGGTGATGCCCACAGGCTTGGCCTGTGGTAGAGGGCTGGGGCTGAAGCCTCCAGAACTGGAAGAGCAACTGGGCTCATCAACAGGCAGCAGCACATCTCGAGGCCTGGCCCTCATGCTCTGGGAGGCCTGTGGCTGGAGGTTATAGCAAGGGCCCATGGGCAGGTGTAGGTGTGAGGGACGAGCTAGTTGAGGCCCAGATTCCCCAGGTGCCCTTGACTCTGGCACTGATAGTGATATTGACATGGTCATAGGAGGTATGCAACAGGTTGCCTGCCTATATGGAGACTGGCTGGAAGGCCTGTCCAACTGGTTGGGGCTTATCCAGGCAGGACCTGGCCCCACTGGAAGAGGACAGGGAGCCCAAGCAGGCCAATCATAGGCCCCTGGGGGTTCAGTATAGAGGGAAAGGGGACTGTCTCGGCTCCATTCTCCTTCTTCCTCCTCTTCGTCCTCCTCATCTGAATCTTCCTGCTGGGCCTGCAGCTCATCAGACTCGAGGTAGCCCTGGACCAAGTGGGAATTGGAGAGCTCCATCTCCAGGGTCTCTGCAGTGTCGAGAGAGCGGCTTCTCCTGTTGAGGGCCATAGCAGCAGGTGGAGGTCGAGGGTGCAGGCCAGGCAGTCCCAAGTATCGAGGGAGGCTGCTCACACCCCAGGGCAGGCCTTGGTAGAATCGACTATGGTAGTTGTTGAAGGCATGTTTGTGATAGTAGCCCAGCTCAAAGGCTTCCAAGGAGGCTGCAAGATCTTCATCATTGTGGAACTCAGGATTCTCTTCACACTTGCCTTCCCCATCCCGTTCCACATCAGCGATGTCAAAGGTCACCATGGGAGGCAGCTCAGGGAGGTTTTGAGTGAAAGATGAGTCAGAGTCAGAGCTGCAGGACATGCTGGAAAAGAGGTTCCCATTGCTGGTGAACTCTACCAGGGCCTGTGAGAAACTCACAGTGGCATTCCCTTCCTTCTCAACCTCCTCTTCCTCTGGATCTTCAGGGGGTGAATAAGTAGGGTAGGCCCTCCTGGGAGATCCTCCAAAATTTGCTTCTTGCATGTCTGGCTCAAACATGGCATCACTCTGGAAGAGCTGCATCAGGCAGGTACTTTGATCTTTCTTGGAGCAGGTTCCTTCATAACGCTTCTCCAGAGGACGGAAGTCCCTCCAGTCTGGCTCGCTGCTTGCAGTGGTGGGGAAAGCTGAGGTAATTCCCCGGTGGGAAATCTGAGAGGTCCCTGATACCCCTGCTGCCAGGCCCATCACTGATGGGCCTAAGGGCCTCATCTGATACTCTAAGACGGGCTTCTCCTGCCGGGCCTGGGTCTCTCGGACTTGAGTCTCTCTACAACGAACCTCTCGGGCCTGGGCTTCTCGGGTTCTGGCCTCCCTGCCATGAGCTTCCCAAGTGTGGGCCTCCCTGGCATAGGCTTCCCTGCCATAAGCCTCTCGAGTATAGGCCTCCCTGGCGTGGGCCTCCCTGGCATGAGCTTCTCGGGCACGTGCCTCCTGGGCCTCAAGCTGCTCCCGCCGAAGCTCCCAATACAACAACTGTTTCTGGATGGTCACTAGCCGTTCTTCCTCTGTCTCCATTGCCCCAGGTGGCCGGGAGGACAAAAAGGGCTCAAAGTTTAAGAAGGGGTCAAACATCTCAGAGCTTCGACCATGGAGGTCATAAAGGCAGTCATCTCCAGGTGGAGAGTTCTCAAGGCTGTCATCTGGCTCATAGAACTCATATAGGGCATCTCCACTGTAGCTGTCTCGGGTAGACAATCCCTGCGGACAAGCCCCAGGGCCTCACCTGAATCATCCTCAAATCCAGGTGTGGTGGAGTCATAATAACCTTCATCACTATTGGGGGCGGATTCTTGCTGGTCACTCTGAGGAGTCAAAAGTTCCCCAGGGGCTAGGCCAGGATAAGACCTAACTGGGTCAAGGAGCATGTAGCCGTGGTGGCCTGGGGATGTGGTGGGATGGTAGCCCAGGTTCATATTGGGCCGTGGATACATTTGGGCAGTTTCCCACAGATATTCTAAGTCATCATCTTCTTCCTCCTCCTTAACCTCCTCTTCTTCCTCCTCTAATTCCACCTCTTCTTCCTCTTCTTCCTCCTCGTCATCATCATCTGGCAAGGCCATCTCCTCCCCACCTCCTTGGTAGGTCACCAGGCAGGAACTTCGCTTGGTCCCATCTCGGTTTGCTCTCTGGCCCCCAGAGGCCATGCTGTCTGTCATACTGTCCATGTCCTGTTCTGCTATTATGTCACCACAACCTGTCAATGAATCAAAGCTTTTCAGGGATGTCACATCCCCAAACAAGAGGCTCAGTGGGTCCCCCACAGGGCCATTGGGTGGGTTTACCTCTCCTGCTACTACCTTCTCCCCTGTTTCTGGGCTATGGGGCTCCTCTAGGCTACTGGCTTCAGGGGCAGGCTTGGGTTGCACATGTGCTGAGGCACAGGCCTCCATGGGTTTTTCTGGATCTTTACAGGCCATTTTCTCAGTAGCTGGTGGAGAAGGTTCTGGTGTTGGAGAAACTTTTGGCCCAGGGGCATCTTGGGGGTTAGCATTTTCCTTTCTAGGGGCTTGGAAGGTCTCCTCAAAGCAGGGCACCTGAGGGGCTGAGCTCACGTGCTCATGAGGCCTGGCTCTGACCCTCTCAGGCCCCTTGGCCCCTGGCTCACTTTGCTCAGCCCCAGTGACCTTGCTCTTCCGGTGACGGCGGATACTGCTAAAAAAGCCTTTTAGGCCTTTCTTTGGCTTGGGCATAGAGGGAAACTTCTCAGCCACAGCTTTCTCTGTGGCTCCAGCCACAGATGTCTTACATCTGGAGCCTGTCTCCAAAGCCCCATGGGCACTCTGAGAGCTGGGAAATTGGCAGGGTAACTCAGGCAAAGGCAGGGAGAAGCCAGTTCCTTCACTGACAACATCTTCAGGGCCATGGGCTGCTTCACTCAGGCCATCGTGGGTCTTGCTCTTGCTGAGACCTTTCTTGGAGCTGCCTTTCCCAGAACCTTTGCTCCGTCCCCCTCCAAAGAAACTAGGCAGAGTACAGATACCCTTCTTGCCACCAAAGAGTTTCATGGCAGTTTTCTTCAGCCTACCTGGGCCGGATGAGGATGGCTCTGAGGTTGGTCCTTCTGTCGCCTCAGCTGCCTTGTTCTTGGCTCCTTTTTCTGCTGTTTGTTCACGGGTACTCCCAGAGGCTGCAGCTCCCTTGGCCTGAGCAGCTTCATCCTTTTGGGTCTCCATGATGATGGGGACAACTGAGGTACGTCCAGCTGGAAATGCAGCCTCAGGCTTCCAGGCACTGTTATAACATTATCAGTCAGGAAGCATCACAGTGGGGTCTGGAGGAGATAGGAGAGACAAAGACAGAGAGACAGATACTAGTGAGCAAGCATCCAGGCTGGGTTTGCTTTCACCGGACGTCAGGCTTGAGTGGAACAAGAAAGAAAATGATGGAAAATGTGGGGCAAATCTTAATCCACTCGATATGCTTGGCTTGCTGGGCCAGCTCTCTCTGGGCCCCAAGGAAGCAAAACTCTACACTGAGCAACAAGAAGCCTTCATCCCCTACCTTCTTGCTGGGTCCACTCCCTTCAGACCATCCTAAGCTCAGGGGACCACTGGGCAGGGGGACCTGCAGTTGTGTGAAAGGCCTAGTGGTGCTATTGGCTGTGGGAGGTATTATCAATTATCAAAGGGGATGAGGATAGGGAGAGACAAGAAAGGCAAAAGGGATGTTGGCTCCAACATCACAGAATTTTTGAAAACCATCTGGCAAAACAGTCCATTGAGTCCTCACAGN
|
pathogenic
| 335,163 |
The mutation in gene AMER1 (APC membrane recruitment protein 1) at chromosome X, position 64192418—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic
|
CAGGACCTGGCCCCACTGGAAGAGGACAGGGAGCCCAAGCAGGCCAATCATAGGCCCCTGGGGGTTCAGTATAGAGGGAAAGGGGACTGTCTCGGCTCCATTCTCCTTCTTCCTCCTCTTCGTCCTCCTCATCTGAATCTTCCTGCTGGGCCTGCAGCTCATCAGACTCGAGGTAGCCCTGGACCAAGTGGGAATTGGAGAGCTCCATCTCCAGGGTCTCTGCAGTGTCGAGAGAGCGGCTTCTCCTGTTGAGGGCCATAGCAGCAGGTGGAGGTCGAGGGTGCAGGCCAGGCAGTCCCAAGTATCGAGGGAGGCTGCTCACACCCCAGGGCAGGCCTTGGTAGAATCGACTATGGTAGTTGTTGAAGGCATGTTTGTGATAGTAGCCCAGCTCAAAGGCTTCCAAGGAGGCTGCAAGATCTTCATCATTGTGGAACTCAGGATTCTCTTCACACTTGCCTTCCCCATCCCGTTCCACATCAGCGATGTCAAAGGTCACCATGGGAGGCAGCTCAGGGAGGTTTTGAGTGAAAGATGAGTCAGAGTCAGAGCTGCAGGACATGCTGGAAAAGAGGTTCCCATTGCTGGTGAACTCTACCAGGGCCTGTGAGAAACTCACAGTGGCATTCCCTTCCTTCTCAACCTCCTCTTCCTCTGGATCTTCAGGGGGTGAATAAGTAGGGTAGGCCCTCCTGGGAGATCCTCCAAAATTTGCTTCTTGCATGTCTGGCTCAAACATGGCATCACTCTGGAAGAGCTGCATCAGGCAGGTACTTTGATCTTTCTTGGAGCAGGTTCCTTCATAACGCTTCTCCAGAGGACGGAAGTCCCTCCAGTCTGGCTCGCTGCTTGCAGTGGTGGGGAAAGCTGAGGTAATTCCCCGGTGGGAAATCTGAGAGGTCCCTGATACCCCTGCTGCCAGGCCCATCACTGATGGGCCTAAGGGCCTCATCTGATACTCTAAGACGGGCTTCTCCTGCCGGGCCTGGGTCTCTCGGACTTGAGTCTCTCTACAACGAACCTCTCGGGCCTGGGCTTCTCGGGTTCTGGCCTCCCTGCCATGAGCTTCCCAAGTGTGGGCCTCCCTGGCATAGGCTTCCCTGCCATAAGCCTCTCGAGTATAGGCCTCCCTGGCGTGGGCCTCCCTGGCATGAGCTTCTCGGGCACGTGCCTCCTGGGCCTCAAGCTGCTCCCGCCGAAGCTCCCAATACAACAACTGTTTCTGGATGGTCACTAGCCGTTCTTCCTCTGTCTCCATTGCCCCAGGTGGCCGGGAGGACAAAAAGGGCTCAAAGTTTAAGAAGGGGTCAAACATCTCAGAGCTTCGACCATGGAGGTCATAAAGGCAGTCATCTCCAGGTGGAGAGTTCTCAAGGCTGTCATCTGGCTCATAGAACTCATATAGGGCATCTCCACTGTAGCTGTCTCGGGGTAGACAATCCCTGCGGACAAGCCCCAGGGCCTCACCTGAATCATCCTCAAATCCAGGTGTGGTGGAGTCATAATAACCTTCATCACTATTGGGGGCGGATTCTTGCTGGTCACTCTGAGGAGTCAAAAGTTCCCCAGGGGCTAGGCCAGGATAAGACCTAACTGGGTCAAGGAGCATGTAGCCGTGGTGGCCTGGGGATGTGGTGGGATGGTAGCCCAGGTTCATATTGGGCCGTGGATACATTTGGGCAGTTTCCCACAGATATTCTAAGTCATCATCTTCTTCCTCCTCCTTAACCTCCTCTTCTTCCTCCTCTAATTCCACCTCTTCTTCCTCTTCTTCCTCCTCGTCATCATCATCTGGCAAGGCCATCTCCTCCCCACCTCCTTGGTAGGTCACCAGGCAGGAACTTCGCTTGGTCCCATCTCGGTTTGCTCTCTGGCCCCCAGAGGCCATGCTGTCTGTCATACTGTCCATGTCCTGTTCTGCTATTATGTCACCACAACCTGTCAATGAATCAAAGCTTTTCAGGGATGTCACATCCCCAAACAAGAGGCTCAGTGGGTCCCCCACAGGGCCATTGGGTGGGTTTACCTCTCCTGCTACTACCTTCTCCCCTGTTTCTGGGCTATGGGGCTCCTCTAGGCTACTGGCTTCAGGGGCAGGCTTGGGTTGCACATGTGCTGAGGCACAGGCCTCCATGGGTTTTTCTGGATCTTTACAGGCCATTTTCTCAGTAGCTGGTGGAGAAGGTTCTGGTGTTGGAGAAACTTTTGGCCCAGGGGCATCTTGGGGGTTAGCATTTTCCTTTCTAGGGGCTTGGAAGGTCTCCTCAAAGCAGGGCACCTGAGGGGCTGAGCTCACGTGCTCATGAGGCCTGGCTCTGACCCTCTCAGGCCCCTTGGCCCCTGGCTCACTTTGCTCAGCCCCAGTGACCTTGCTCTTCCGGTGACGGCGGATACTGCTAAAAAAGCCTTTTAGGCCTTTCTTTGGCTTGGGCATAGAGGGAAACTTCTCAGCCACAGCTTTCTCTGTGGCTCCAGCCACAGATGTCTTACATCTGGAGCCTGTCTCCAAAGCCCCATGGGCACTCTGAGAGCTGGGAAATTGGCAGGGTAACTCAGGCAAAGGCAGGGAGAAGCCAGTTCCTTCACTGACAACATCTTCAGGGCCATGGGCTGCTTCACTCAGGCCATCGTGGGTCTTGCTCTTGCTGAGACCTTTCTTGGAGCTGCCTTTCCCAGAACCTTTGCTCCGTCCCCCTCCAAAGAAACTAGGCAGAGTACAGATACCCTTCTTGCCACCAAAGAGTTTCATGGCAGTTTTCTTCAGCCTACCTGGGCCGGATGAGGATGGCTCTGAGGTTGGTCCTTCTGTCGCCTCAGCTGCCTTGTTCTTGGCTCCTTTTTCTGCTGTTTGTTCACGGGTACTCCCAGAGGCTGCAGCTCCCTTGGCCTGAGCAGCTTCATCCTTTTGGGTCTCCATGATGATGGGGACAACTGAGGTACGTCCAGCTGGAAATGCAGCCTCAGGCTTCCAGGCACTGTTATAACATTATCAGTCAGGAAGCATCACAGTGGGGTCTGGAGGAGATAGGAGAGACAAAGACAGAGAGACAGATACTAGTGAGCAAGCATCCAGGCTGGGTTTGCTTTCACCGGACGTCAGGCTTGAGTGGAACAAGAAAGAAAATGATGGAAAATGTGGGGCAAATCTTAATCCACTCGATATGCTTGGCTTGCTGGGCCAGCTCTCTCTGGGCCCCAAGGAAGCAAAACTCTACACTGAGCAACAAGAAGCCTTCATCCCCTACCTTCTTGCTGGGTCCACTCCCTTCAGACCATCCTAAGCTCAGGGGACCACTGGGCAGGGGGACCTGCAGTTGTGTGAAAGGCCTAGTGGTGCTATTGGCTGTGGGAGGTATTATCAATTATCAAAGGGGATGAGGATAGGGAGAGACAAGAAAGGCAAAAGGGATGTTGGCTCCAACATCACAGAATTTTTGAAAACCATCTGGCAAAACAGTCCATTGAGTCCTCACAGGGCTCTGTTGGATTCAAGCTTCAGTTTCATATTAGTCTGGGCTCTCACTGACATTTTGTCTGAGACTGAAAAGTGGACCTGAAGTTTCACCTCCCATCCAAAGCTTCCTAAATTGCCTGCAGAACCATGCTCAGGCTTCAGAATCTCAGAATAGGAGCCTCACACATCCACAAAGTAGGTCTGCAATCTAGAACCTGCTAAGACAATGAAATGGGAGCCTCAAGAAAGGTACTCTCTGGGCTTCAATATTCGCCATTCAAGAGGCCTATCAATATCTCTCCCTCAGAGAGGTGATATGAGGGTGGGTCTAAGCCAGACCCTCTATTGGCTGTCCTGCTGGGAAGATACTTTAATGCGGTCATCAATGGAACCCCAAATTCCACTTGAGAACCATGAGGTGGACTGTTTCTCCTCTACTCTCCTCCTCTTATTATTTTTGTCCCCATCTAGCTCCCTATCTAGGAAGGGAACTCCTTGAAGGCCCTACATGATTCATATTCCTGGTGTGTGAGATAGGTTCCCAATGGCTTTTTAAATAAATAAACCTGGTGCAAGCCACACCCTTCTGGTCAAGGCTCTCAATCCTCCAAATGCCCAAATACCAACAGAGATGGAATAAAA
|
CAGGACCTGGCCCCACTGGAAGAGGACAGGGAGCCCAAGCAGGCCAATCATAGGCCCCTGGGGGTTCAGTATAGAGGGAAAGGGGACTGTCTCGGCTCCATTCTCCTTCTTCCTCCTCTTCGTCCTCCTCATCTGAATCTTCCTGCTGGGCCTGCAGCTCATCAGACTCGAGGTAGCCCTGGACCAAGTGGGAATTGGAGAGCTCCATCTCCAGGGTCTCTGCAGTGTCGAGAGAGCGGCTTCTCCTGTTGAGGGCCATAGCAGCAGGTGGAGGTCGAGGGTGCAGGCCAGGCAGTCCCAAGTATCGAGGGAGGCTGCTCACACCCCAGGGCAGGCCTTGGTAGAATCGACTATGGTAGTTGTTGAAGGCATGTTTGTGATAGTAGCCCAGCTCAAAGGCTTCCAAGGAGGCTGCAAGATCTTCATCATTGTGGAACTCAGGATTCTCTTCACACTTGCCTTCCCCATCCCGTTCCACATCAGCGATGTCAAAGGTCACCATGGGAGGCAGCTCAGGGAGGTTTTGAGTGAAAGATGAGTCAGAGTCAGAGCTGCAGGACATGCTGGAAAAGAGGTTCCCATTGCTGGTGAACTCTACCAGGGCCTGTGAGAAACTCACAGTGGCATTCCCTTCCTTCTCAACCTCCTCTTCCTCTGGATCTTCAGGGGGTGAATAAGTAGGGTAGGCCCTCCTGGGAGATCCTCCAAAATTTGCTTCTTGCATGTCTGGCTCAAACATGGCATCACTCTGGAAGAGCTGCATCAGGCAGGTACTTTGATCTTTCTTGGAGCAGGTTCCTTCATAACGCTTCTCCAGAGGACGGAAGTCCCTCCAGTCTGGCTCGCTGCTTGCAGTGGTGGGGAAAGCTGAGGTAATTCCCCGGTGGGAAATCTGAGAGGTCCCTGATACCCCTGCTGCCAGGCCCATCACTGATGGGCCTAAGGGCCTCATCTGATACTCTAAGACGGGCTTCTCCTGCCGGGCCTGGGTCTCTCGGACTTGAGTCTCTCTACAACGAACCTCTCGGGCCTGGGCTTCTCGGGTTCTGGCCTCCCTGCCATGAGCTTCCCAAGTGTGGGCCTCCCTGGCATAGGCTTCCCTGCCATAAGCCTCTCGAGTATAGGCCTCCCTGGCGTGGGCCTCCCTGGCATGAGCTTCTCGGGCACGTGCCTCCTGGGCCTCAAGCTGCTCCCGCCGAAGCTCCCAATACAACAACTGTTTCTGGATGGTCACTAGCCGTTCTTCCTCTGTCTCCATTGCCCCAGGTGGCCGGGAGGACAAAAAGGGCTCAAAGTTTAAGAAGGGGTCAAACATCTCAGAGCTTCGACCATGGAGGTCATAAAGGCAGTCATCTCCAGGTGGAGAGTTCTCAAGGCTGTCATCTGGCTCATAGAACTCATATAGGGCATCTCCACTGTAGCTGTCTCGGGGTAGACAATCCCTGCGGACAAGCCCCAGGGCCTCACCTGAATCATCCTCAAATCCAGGTGTGGTGGAGTCATAATAACCTTCATCACTATTGGGGGCGGATTCTTGCTGGTCACTCTGAGGAGTCAAAAGTTCCCCAGGGGCTAGGCCAGGATAAGACCTAACTGGGTCAAGGAGCATGTAGCCGTGGTGGCCTGGGGATGTGGTGGGATGGTAGCCCAGGTTCATATTGGGCCGTGGATACATTTGGGCAGTTTCCCACAGATATTCTAAGTCATCATCTTCTTCCTCCTCCTTAACCTCCTCTTCTTCCTCCTCTAATTCCACCTCTTCTTCCTCTTCTTCCTCCTCGTCATCATCATCTGGCAAGGCCATCTCCTCCCCACCTCCTTGGTAGGTCACCAGGCAGGAACTTCGCTTGGTCCCATCTCGGTTTGCTCTCTGGCCCCCAGAGGCCATGCTGTCTGTCATACTGTCCATGTCCTGTTCTGCTATTATGTCACCACAACCTGTCAATGAATCAAAGCTTTTCAGGGATGTCACATCCCCAAACAAGAGGCTCAGTGGGTCCCCCACAGGGCCATTGGGTGGGTTTACCTCTCCTGCTACTACCTTCTCCCGTTTCTGGGCTATGGGGCTCCTCTAGGCTACTGGCTTCAGGGGCAGGCTTGGGTTGCACATGTGCTGAGGCACAGGCCTCCATGGGTTTTTCTGGATCTTTACAGGCCATTTTCTCAGTAGCTGGTGGAGAAGGTTCTGGTGTTGGAGAAACTTTTGGCCCAGGGGCATCTTGGGGGTTAGCATTTTCCTTTCTAGGGGCTTGGAAGGTCTCCTCAAAGCAGGGCACCTGAGGGGCTGAGCTCACGTGCTCATGAGGCCTGGCTCTGACCCTCTCAGGCCCCTTGGCCCCTGGCTCACTTTGCTCAGCCCCAGTGACCTTGCTCTTCCGGTGACGGCGGATACTGCTAAAAAAGCCTTTTAGGCCTTTCTTTGGCTTGGGCATAGAGGGAAACTTCTCAGCCACAGCTTTCTCTGTGGCTCCAGCCACAGATGTCTTACATCTGGAGCCTGTCTCCAAAGCCCCATGGGCACTCTGAGAGCTGGGAAATTGGCAGGGTAACTCAGGCAAAGGCAGGGAGAAGCCAGTTCCTTCACTGACAACATCTTCAGGGCCATGGGCTGCTTCACTCAGGCCATCGTGGGTCTTGCTCTTGCTGAGACCTTTCTTGGAGCTGCCTTTCCCAGAACCTTTGCTCCGTCCCCCTCCAAAGAAACTAGGCAGAGTACAGATACCCTTCTTGCCACCAAAGAGTTTCATGGCAGTTTTCTTCAGCCTACCTGGGCCGGATGAGGATGGCTCTGAGGTTGGTCCTTCTGTCGCCTCAGCTGCCTTGTTCTTGGCTCCTTTTTCTGCTGTTTGTTCACGGGTACTCCCAGAGGCTGCAGCTCCCTTGGCCTGAGCAGCTTCATCCTTTTGGGTCTCCATGATGATGGGGACAACTGAGGTACGTCCAGCTGGAAATGCAGCCTCAGGCTTCCAGGCACTGTTATAACATTATCAGTCAGGAAGCATCACAGTGGGGTCTGGAGGAGATAGGAGAGACAAAGACAGAGAGACAGATACTAGTGAGCAAGCATCCAGGCTGGGTTTGCTTTCACCGGACGTCAGGCTTGAGTGGAACAAGAAAGAAAATGATGGAAAATGTGGGGCAAATCTTAATCCACTCGATATGCTTGGCTTGCTGGGCCAGCTCTCTCTGGGCCCCAAGGAAGCAAAACTCTACACTGAGCAACAAGAAGCCTTCATCCCCTACCTTCTTGCTGGGTCCACTCCCTTCAGACCATCCTAAGCTCAGGGGACCACTGGGCAGGGGGACCTGCAGTTGTGTGAAAGGCCTAGTGGTGCTATTGGCTGTGGGAGGTATTATCAATTATCAAAGGGGATGAGGATAGGGAGAGACAAGAAAGGCAAAAGGGATGTTGGCTCCAACATCACAGAATTTTTGAAAACCATCTGGCAAAACAGTCCATTGAGTCCTCACAGGGCTCTGTTGGATTCAAGCTTCAGTTTCATATTAGTCTGGGCTCTCACTGACATTTTGTCTGAGACTGAAAAGTGGACCTGAAGTTTCACCTCCCATCCAAAGCTTCCTAAATTGCCTGCAGAACCATGCTCAGGCTTCAGAATCTCAGAATAGGAGCCTCACACATCCACAAAGTAGGTCTGCAATCTAGAACCTGCTAAGACAATGAAATGGGAGCCTCAAGAAAGGTACTCTCTGGGCTTCAATATTCGCCATTCAAGAGGCCTATCAATATCTCTCCCTCAGAGAGGTGATATGAGGGTGGGTCTAAGCCAGACCCTCTATTGGCTGTCCTGCTGGGAAGATACTTTAATGCGGTCATCAATGGAACCCCAAATTCCACTTGAGAACCATGAGGTGGACTGTTTCTCCTCTACTCTCCTCCTCTTATTATTTTTGTCCCCATCTAGCTCCCTATCTAGGAAGGGAACTCCTTGAAGGCCCTACATGATTCATATTCCTGGTGTGTGAGATAGGTTCCCAATGGCTTTTTAAATAAATAAACCTGGTGCAAGCCACACCCTTCTGGTCAAGGCTCTCAATCCTCCAAATGCCCAAATACCAACAGAGATGGAATAAAANN
|
pathogenic
| 335,174 |
Classify the chromosome X variant at position 64192592 affecting gene AMER1 (APC membrane recruitment protein 1) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['Osteopathia_striata_with_cranial_sclerosis']
|
AGCCCTGGACCAAGTGGGAATTGGAGAGCTCCATCTCCAGGGTCTCTGCAGTGTCGAGAGAGCGGCTTCTCCTGTTGAGGGCCATAGCAGCAGGTGGAGGTCGAGGGTGCAGGCCAGGCAGTCCCAAGTATCGAGGGAGGCTGCTCACACCCCAGGGCAGGCCTTGGTAGAATCGACTATGGTAGTTGTTGAAGGCATGTTTGTGATAGTAGCCCAGCTCAAAGGCTTCCAAGGAGGCTGCAAGATCTTCATCATTGTGGAACTCAGGATTCTCTTCACACTTGCCTTCCCCATCCCGTTCCACATCAGCGATGTCAAAGGTCACCATGGGAGGCAGCTCAGGGAGGTTTTGAGTGAAAGATGAGTCAGAGTCAGAGCTGCAGGACATGCTGGAAAAGAGGTTCCCATTGCTGGTGAACTCTACCAGGGCCTGTGAGAAACTCACAGTGGCATTCCCTTCCTTCTCAACCTCCTCTTCCTCTGGATCTTCAGGGGGTGAATAAGTAGGGTAGGCCCTCCTGGGAGATCCTCCAAAATTTGCTTCTTGCATGTCTGGCTCAAACATGGCATCACTCTGGAAGAGCTGCATCAGGCAGGTACTTTGATCTTTCTTGGAGCAGGTTCCTTCATAACGCTTCTCCAGAGGACGGAAGTCCCTCCAGTCTGGCTCGCTGCTTGCAGTGGTGGGGAAAGCTGAGGTAATTCCCCGGTGGGAAATCTGAGAGGTCCCTGATACCCCTGCTGCCAGGCCCATCACTGATGGGCCTAAGGGCCTCATCTGATACTCTAAGACGGGCTTCTCCTGCCGGGCCTGGGTCTCTCGGACTTGAGTCTCTCTACAACGAACCTCTCGGGCCTGGGCTTCTCGGGTTCTGGCCTCCCTGCCATGAGCTTCCCAAGTGTGGGCCTCCCTGGCATAGGCTTCCCTGCCATAAGCCTCTCGAGTATAGGCCTCCCTGGCGTGGGCCTCCCTGGCATGAGCTTCTCGGGCACGTGCCTCCTGGGCCTCAAGCTGCTCCCGCCGAAGCTCCCAATACAACAACTGTTTCTGGATGGTCACTAGCCGTTCTTCCTCTGTCTCCATTGCCCCAGGTGGCCGGGAGGACAAAAAGGGCTCAAAGTTTAAGAAGGGGTCAAACATCTCAGAGCTTCGACCATGGAGGTCATAAAGGCAGTCATCTCCAGGTGGAGAGTTCTCAAGGCTGTCATCTGGCTCATAGAACTCATATAGGGCATCTCCACTGTAGCTGTCTCGGGGTAGACAATCCCTGCGGACAAGCCCCAGGGCCTCACCTGAATCATCCTCAAATCCAGGTGTGGTGGAGTCATAATAACCTTCATCACTATTGGGGGCGGATTCTTGCTGGTCACTCTGAGGAGTCAAAAGTTCCCCAGGGGCTAGGCCAGGATAAGACCTAACTGGGTCAAGGAGCATGTAGCCGTGGTGGCCTGGGGATGTGGTGGGATGGTAGCCCAGGTTCATATTGGGCCGTGGATACATTTGGGCAGTTTCCCACAGATATTCTAAGTCATCATCTTCTTCCTCCTCCTTAACCTCCTCTTCTTCCTCCTCTAATTCCACCTCTTCTTCCTCTTCTTCCTCCTCGTCATCATCATCTGGCAAGGCCATCTCCTCCCCACCTCCTTGGTAGGTCACCAGGCAGGAACTTCGCTTGGTCCCATCTCGGTTTGCTCTCTGGCCCCCAGAGGCCATGCTGTCTGTCATACTGTCCATGTCCTGTTCTGCTATTATGTCACCACAACCTGTCAATGAATCAAAGCTTTTCAGGGATGTCACATCCCCAAACAAGAGGCTCAGTGGGTCCCCCACAGGGCCATTGGGTGGGTTTACCTCTCCTGCTACTACCTTCTCCCCTGTTTCTGGGCTATGGGGCTCCTCTAGGCTACTGGCTTCAGGGGCAGGCTTGGGTTGCACATGTGCTGAGGCACAGGCCTCCATGGGTTTTTCTGGATCTTTACAGGCCATTTTCTCAGTAGCTGGTGGAGAAGGTTCTGGTGTTGGAGAAACTTTTGGCCCAGGGGCATCTTGGGGGTTAGCATTTTCCTTTCTAGGGGCTTGGAAGGTCTCCTCAAAGCAGGGCACCTGAGGGGCTGAGCTCACGTGCTCATGAGGCCTGGCTCTGACCCTCTCAGGCCCCTTGGCCCCTGGCTCACTTTGCTCAGCCCCAGTGACCTTGCTCTTCCGGTGACGGCGGATACTGCTAAAAAAGCCTTTTAGGCCTTTCTTTGGCTTGGGCATAGAGGGAAACTTCTCAGCCACAGCTTTCTCTGTGGCTCCAGCCACAGATGTCTTACATCTGGAGCCTGTCTCCAAAGCCCCATGGGCACTCTGAGAGCTGGGAAATTGGCAGGGTAACTCAGGCAAAGGCAGGGAGAAGCCAGTTCCTTCACTGACAACATCTTCAGGGCCATGGGCTGCTTCACTCAGGCCATCGTGGGTCTTGCTCTTGCTGAGACCTTTCTTGGAGCTGCCTTTCCCAGAACCTTTGCTCCGTCCCCCTCCAAAGAAACTAGGCAGAGTACAGATACCCTTCTTGCCACCAAAGAGTTTCATGGCAGTTTTCTTCAGCCTACCTGGGCCGGATGAGGATGGCTCTGAGGTTGGTCCTTCTGTCGCCTCAGCTGCCTTGTTCTTGGCTCCTTTTTCTGCTGTTTGTTCACGGGTACTCCCAGAGGCTGCAGCTCCCTTGGCCTGAGCAGCTTCATCCTTTTGGGTCTCCATGATGATGGGGACAACTGAGGTACGTCCAGCTGGAAATGCAGCCTCAGGCTTCCAGGCACTGTTATAACATTATCAGTCAGGAAGCATCACAGTGGGGTCTGGAGGAGATAGGAGAGACAAAGACAGAGAGACAGATACTAGTGAGCAAGCATCCAGGCTGGGTTTGCTTTCACCGGACGTCAGGCTTGAGTGGAACAAGAAAGAAAATGATGGAAAATGTGGGGCAAATCTTAATCCACTCGATATGCTTGGCTTGCTGGGCCAGCTCTCTCTGGGCCCCAAGGAAGCAAAACTCTACACTGAGCAACAAGAAGCCTTCATCCCCTACCTTCTTGCTGGGTCCACTCCCTTCAGACCATCCTAAGCTCAGGGGACCACTGGGCAGGGGGACCTGCAGTTGTGTGAAAGGCCTAGTGGTGCTATTGGCTGTGGGAGGTATTATCAATTATCAAAGGGGATGAGGATAGGGAGAGACAAGAAAGGCAAAAGGGATGTTGGCTCCAACATCACAGAATTTTTGAAAACCATCTGGCAAAACAGTCCATTGAGTCCTCACAGGGCTCTGTTGGATTCAAGCTTCAGTTTCATATTAGTCTGGGCTCTCACTGACATTTTGTCTGAGACTGAAAAGTGGACCTGAAGTTTCACCTCCCATCCAAAGCTTCCTAAATTGCCTGCAGAACCATGCTCAGGCTTCAGAATCTCAGAATAGGAGCCTCACACATCCACAAAGTAGGTCTGCAATCTAGAACCTGCTAAGACAATGAAATGGGAGCCTCAAGAAAGGTACTCTCTGGGCTTCAATATTCGCCATTCAAGAGGCCTATCAATATCTCTCCCTCAGAGAGGTGATATGAGGGTGGGTCTAAGCCAGACCCTCTATTGGCTGTCCTGCTGGGAAGATACTTTAATGCGGTCATCAATGGAACCCCAAATTCCACTTGAGAACCATGAGGTGGACTGTTTCTCCTCTACTCTCCTCCTCTTATTATTTTTGTCCCCATCTAGCTCCCTATCTAGGAAGGGAACTCCTTGAAGGCCCTACATGATTCATATTCCTGGTGTGTGAGATAGGTTCCCAATGGCTTTTTAAATAAATAAACCTGGTGCAAGCCACACCCTTCTGGTCAAGGCTCTCAATCCTCCAAATGCCCAAATACCAACAGAGATGGAATAAAAACAAGACCTAGCCACTACCCACCACAATATACCTCTGCACCTCTGGTCATCCGCTAGCTCAGTGACCAGCCTGCTAAAACCCAATGACCCCTCCCTGGGAAGTCCCTCACCAATTTGTCCCCTCTCTGTAGAGTGGCACCAGCAGATGGGGGAATCTGGGAGGAGAGGGGAGAG
|
AGCCCTGGACCAAGTGGGAATTGGAGAGCTCCATCTCCAGGGTCTCTGCAGTGTCGAGAGAGCGGCTTCTCCTGTTGAGGGCCATAGCAGCAGGTGGAGGTCGAGGGTGCAGGCCAGGCAGTCCCAAGTATCGAGGGAGGCTGCTCACACCCCAGGGCAGGCCTTGGTAGAATCGACTATGGTAGTTGTTGAAGGCATGTTTGTGATAGTAGCCCAGCTCAAAGGCTTCCAAGGAGGCTGCAAGATCTTCATCATTGTGGAACTCAGGATTCTCTTCACACTTGCCTTCCCCATCCCGTTCCACATCAGCGATGTCAAAGGTCACCATGGGAGGCAGCTCAGGGAGGTTTTGAGTGAAAGATGAGTCAGAGTCAGAGCTGCAGGACATGCTGGAAAAGAGGTTCCCATTGCTGGTGAACTCTACCAGGGCCTGTGAGAAACTCACAGTGGCATTCCCTTCCTTCTCAACCTCCTCTTCCTCTGGATCTTCAGGGGGTGAATAAGTAGGGTAGGCCCTCCTGGGAGATCCTCCAAAATTTGCTTCTTGCATGTCTGGCTCAAACATGGCATCACTCTGGAAGAGCTGCATCAGGCAGGTACTTTGATCTTTCTTGGAGCAGGTTCCTTCATAACGCTTCTCCAGAGGACGGAAGTCCCTCCAGTCTGGCTCGCTGCTTGCAGTGGTGGGGAAAGCTGAGGTAATTCCCCGGTGGGAAATCTGAGAGGTCCCTGATACCCCTGCTGCCAGGCCCATCACTGATGGGCCTAAGGGCCTCATCTGATACTCTAAGACGGGCTTCTCCTGCCGGGCCTGGGTCTCTCGGACTTGAGTCTCTCTACAACGAACCTCTCGGGCCTGGGCTTCTCGGGTTCTGGCCTCCCTGCCATGAGCTTCCCAAGTGTGGGCCTCCCTGGCATAGGCTTCCCTGCCATAAGCCTCTCGAGTATAGGCCTCCCTGGCGTGGGCCTCCCTGGCATGAGCTTCTCGGGCACGTGCCTCCTGGGCCTCAAGCTGCTCCCGCCGAAGCTCCCAATACAACAACTGTTTCTGGATGGTCACTAGCCGTTCTTCCTCTGTCTCCATTGCCCCAGGTGGCCGGGAGGACAAAAAGGGCTCAAAGTTTAAGAAGGGGTCAAACATCTCAGAGCTTCGACCATGGAGGTCATAAAGGCAGTCATCTCCAGGTGGAGAGTTCTCAAGGCTGTCATCTGGCTCATAGAACTCATATAGGGCATCTCCACTGTAGCTGTCTCGGGGTAGACAATCCCTGCGGACAAGCCCCAGGGCCTCACCTGAATCATCCTCAAATCCAGGTGTGGTGGAGTCATAATAACCTTCATCACTATTGGGGGCGGATTCTTGCTGGTCACTCTGAGGAGTCAAAAGTTCCCCAGGGGCTAGGCCAGGATAAGACCTAACTGGGTCAAGGAGCATGTAGCCGTGGTGGCCTGGGGATGTGGTGGGATGGTAGCCCAGGTTCATATTGGGCCGTGGATACATTTGGGCAGTTTCCCACAGATATTCTAAGTCATCATCTTCTTCCTCCTCCTTAACCTCCTCTTCTTCCTCCTCTAATTCCACCTCTTCTTCCTCTTCTTCCTCCTCGTCATCATCATCTGGCAAGGCCATCTCCTCCCCACCTCCTTGGTAGGTCACCAGGCAGGAACTTCGCTTGGTCCCATCTCGGTTTGCTCTCTGGCCCCCAGAGGCCATGCTGTCTGTCATACTGTCCATGTCCTGTTCTGCTATTATGTCACCACAACCTGTCAATGAATCAAAGCTTTTCAGGGATGTCACATCCCCAAACAAGAGGCTCAGTGGGTCCCCCACAGGGCCATTGGGTGGGTTTACCTCTCCTGCTACTACCTTCTCCCCTGTTTCTGGGCTATGGGGCTCCTCTAGGCTACTGGCTTCAGGGGCAGGCTTGGGTTGCACATGTGCTGAGGCACAGGCCTCCATGGGTTTTTCTGGATCTTTACAGGCCATTTTCTCAGTAGCTGGTGGAGAAGGTTCTGGTGTTGGAGAAACTTTTGGCCCAGGGGCATCTTGGGGTTAGCATTTTCCTTTCTAGGGGCTTGGAAGGTCTCCTCAAAGCAGGGCACCTGAGGGGCTGAGCTCACGTGCTCATGAGGCCTGGCTCTGACCCTCTCAGGCCCCTTGGCCCCTGGCTCACTTTGCTCAGCCCCAGTGACCTTGCTCTTCCGGTGACGGCGGATACTGCTAAAAAAGCCTTTTAGGCCTTTCTTTGGCTTGGGCATAGAGGGAAACTTCTCAGCCACAGCTTTCTCTGTGGCTCCAGCCACAGATGTCTTACATCTGGAGCCTGTCTCCAAAGCCCCATGGGCACTCTGAGAGCTGGGAAATTGGCAGGGTAACTCAGGCAAAGGCAGGGAGAAGCCAGTTCCTTCACTGACAACATCTTCAGGGCCATGGGCTGCTTCACTCAGGCCATCGTGGGTCTTGCTCTTGCTGAGACCTTTCTTGGAGCTGCCTTTCCCAGAACCTTTGCTCCGTCCCCCTCCAAAGAAACTAGGCAGAGTACAGATACCCTTCTTGCCACCAAAGAGTTTCATGGCAGTTTTCTTCAGCCTACCTGGGCCGGATGAGGATGGCTCTGAGGTTGGTCCTTCTGTCGCCTCAGCTGCCTTGTTCTTGGCTCCTTTTTCTGCTGTTTGTTCACGGGTACTCCCAGAGGCTGCAGCTCCCTTGGCCTGAGCAGCTTCATCCTTTTGGGTCTCCATGATGATGGGGACAACTGAGGTACGTCCAGCTGGAAATGCAGCCTCAGGCTTCCAGGCACTGTTATAACATTATCAGTCAGGAAGCATCACAGTGGGGTCTGGAGGAGATAGGAGAGACAAAGACAGAGAGACAGATACTAGTGAGCAAGCATCCAGGCTGGGTTTGCTTTCACCGGACGTCAGGCTTGAGTGGAACAAGAAAGAAAATGATGGAAAATGTGGGGCAAATCTTAATCCACTCGATATGCTTGGCTTGCTGGGCCAGCTCTCTCTGGGCCCCAAGGAAGCAAAACTCTACACTGAGCAACAAGAAGCCTTCATCCCCTACCTTCTTGCTGGGTCCACTCCCTTCAGACCATCCTAAGCTCAGGGGACCACTGGGCAGGGGGACCTGCAGTTGTGTGAAAGGCCTAGTGGTGCTATTGGCTGTGGGAGGTATTATCAATTATCAAAGGGGATGAGGATAGGGAGAGACAAGAAAGGCAAAAGGGATGTTGGCTCCAACATCACAGAATTTTTGAAAACCATCTGGCAAAACAGTCCATTGAGTCCTCACAGGGCTCTGTTGGATTCAAGCTTCAGTTTCATATTAGTCTGGGCTCTCACTGACATTTTGTCTGAGACTGAAAAGTGGACCTGAAGTTTCACCTCCCATCCAAAGCTTCCTAAATTGCCTGCAGAACCATGCTCAGGCTTCAGAATCTCAGAATAGGAGCCTCACACATCCACAAAGTAGGTCTGCAATCTAGAACCTGCTAAGACAATGAAATGGGAGCCTCAAGAAAGGTACTCTCTGGGCTTCAATATTCGCCATTCAAGAGGCCTATCAATATCTCTCCCTCAGAGAGGTGATATGAGGGTGGGTCTAAGCCAGACCCTCTATTGGCTGTCCTGCTGGGAAGATACTTTAATGCGGTCATCAATGGAACCCCAAATTCCACTTGAGAACCATGAGGTGGACTGTTTCTCCTCTACTCTCCTCCTCTTATTATTTTTGTCCCCATCTAGCTCCCTATCTAGGAAGGGAACTCCTTGAAGGCCCTACATGATTCATATTCCTGGTGTGTGAGATAGGTTCCCAATGGCTTTTTAAATAAATAAACCTGGTGCAAGCCACACCCTTCTGGTCAAGGCTCTCAATCCTCCAAATGCCCAAATACCAACAGAGATGGAATAAAAACAAGACCTAGCCACTACCCACCACAATATACCTCTGCACCTCTGGTCATCCGCTAGCTCAGTGACCAGCCTGCTAAAACCCAATGACCCCTCCCTGGGAAGTCCCTCACCAATTTGTCCCCTCTCTGTAGAGTGGCACCAGCAGATGGGGGAATCTGGGAGGAGAGGGGAGAGN
|
pathogenic
| 335,180 |
Subsets and Splits
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