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
|
|---|---|---|---|---|---|
The genetic variant at chromosome 19, position 41422179, affecting gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Maple_syrup_urine_disease']
|
CCCACCCCATTCAGGGGCCTGAAGCCTGTGTGACCACACTCTGGATTTCCCAACCACATGCCTACTGCATTTGTCTGCTCACAAACATAGCCAACGTGTGCACCAGGTTCCACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAA
|
CCCACCCCATTCAGGGGCCTGAAGCCTGTGTGACCACACTCTGGATTTCCCAACCACATGCCTACTGCATTTGTCTGCTCACAAACATAGCCAACGTGTGCACCAGGTTCCACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTAGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAN
|
pathogenic
| 305,362 |
Is the genetic variant on chromosome 19, position 41422230, gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A']
|
AACCACATGCCTACTGCATTTGTCTGCTCACAAACATAGCCAACGTGTGCACCAGGTTCCACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATT
|
AACCACATGCCTACTGCATTTGTCTGCTCACAAACATAGCCAACGTGTGCACCAGGTTCCACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTN
|
pathogenic
| 305,366 |
Chromosome 19, position 41422257, gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Maple_syrup_urine_disease']
|
TCACAAACATAGCCAACGTGTGCACCAGGTTCCACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAG
|
TCACAAACATAGCCAACGTGTGCACCAGGTTCCACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATTGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTA
|
pathogenic
| 305,368 |
Variant in BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha), chromosome 19, position 41422290—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Maple_syrup_urine_disease']
|
ACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACA
|
ACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTAACCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACA
|
pathogenic
| 305,372 |
Variant in gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha), located at chromosome 19 position 41422351: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Maple_syrup_urine_disease']
|
AGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAGGCTTGGAGTGGTTAATTCCTTGCCAAGGCCCCGCAGGAGGAAGCAGGGTCCTGCATGG
|
AGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAGGCTTGGAGTGGTTAATTCCTTGCCAAGGCCCCGCAGGAGGAAGCAGGGTCCTGCATGGN
|
pathogenic
| 305,377 |
Classify the chromosome 19 variant at position 41422633 affecting gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A']
|
TGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAGGCTTGGAGTGGTTAATTCCTTGCCAAGGCCCCGCAGGAGGAAGCAGGGTCCTGCATGGGAGGCCGGCTAGCCTGCCCACTGCCCCATGTCCCCACAGGTGATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGG
|
TGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAGGCTTGGAGTGGTTAATTCCTTGCCAAGGCCCCGCAGGAGGAAGCAGGGTCCTGCATGGGAGGCCGGCTAGCCTGCCCACTGCCCCATGTCCCCACAGGTGATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGNNNNNNNN
|
pathogenic
| 305,386 |
Variant in BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha), chromosome 19, position 41422680—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Maple_syrup_urine_disease']
|
CTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAGGCTTGGAGTGGTTAATTCCTTGCCAAGGCCCCGCAGGAGGAAGCAGGGTCCTGCATGGGAGGCCGGCTAGCCTGCCCACTGCCCCATGTCCCCACAGGTGATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTCAGCTCCCTCTAAAATA
|
CTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAGGCTTGGAGTGGTTAATTCCTTGCCAAGGCCCCGCAGGAGGAAGCAGGGTCCTGCATGGGAGGCCGGCTAGCCTGCCCACTGCCCCATGTCCCCACAGGTGATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTCAGCTCCCTCTAAAATANN
|
pathogenic
| 305,391 |
Gene mutation in BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) at chromosome 19, position 41422962—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
benign
|
TTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAGGCTTGGAGTGGTTAATTCCTTGCCAAGGCCCCGCAGGAGGAAGCAGGGTCCTGCATGGGAGGCCGGCTAGCCTGCCCACTGCCCCATGTCCCCACAGGTGATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTCAGCTCCCTCTAAAATACTCAGCGGCCAGGGCGGCTGCCACTCTTCACCCCTGCTCCTCCCGGCTGTTACATTGTCAGGGGACAGCATCTGCAGCAGTTGCTGAGGCTCCGTCAGCCCCCTCTTCACCTGTTGTTACAGTGCCTTCTCCCAGGGGCTGGGTGAGGGCACATTCAGGACTAGAAGCCCCTCTGGGCATGGGGTGGACATGGCAGGTCAGCCTGTGGAACTTGCGCAGGTGCGAGTGGCCAGCAGAGGTCACGAATAAACTGCATCTCTGCGCCTGGCTCTCTACCACCTC
|
TTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAGGCTTGGAGTGGTTAATTCCTTGCCAAGGCCCCGCAGGAGGAAGCAGGGTCCTGCATGGGAGGCCGGCTAGCCTGCCCACTGCCCCATGTCCCCACAGGTGATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTCAGCTCCCTCTAAAATACTCAGCGGCCAGGGCGGCTGCCACTCTTCACCCCTGCTCCTCCCGGCTGTTACATTGTCAGGGGACAGCATCTGCAGCAGTTGCTGAGGCTCCGTCAGCCCCCTCTTCACCTGTTGTTACAGTGCCTTCTCCCAGGGGCTGGGTGAGGGCACATTCAGGACTAGAAGCCCCTCTGGGCATGGGGTGGACATGGCAGGTCAGCCTGTGGAACTTGCGCAGGTGCGAGTGGCCAGCAGAGGTCACGAATAAACTGCATCTCTGCGCCTGGCTCTCTACCACCT
|
benign
| 305,406 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 41423003, gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha): what disease(s) if pathogenic?
|
pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A']
|
TGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAGGCTTGGAGTGGTTAATTCCTTGCCAAGGCCCCGCAGGAGGAAGCAGGGTCCTGCATGGGAGGCCGGCTAGCCTGCCCACTGCCCCATGTCCCCACAGGTGATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTCAGCTCCCTCTAAAATACTCAGCGGCCAGGGCGGCTGCCACTCTTCACCCCTGCTCCTCCCGGCTGTTACATTGTCAGGGGACAGCATCTGCAGCAGTTGCTGAGGCTCCGTCAGCCCCCTCTTCACCTGTTGTTACAGTGCCTTCTCCCAGGGGCTGGGTGAGGGCACATTCAGGACTAGAAGCCCCTCTGGGCATGGGGTGGACATGGCAGGTCAGCCTGTGGAACTTGCGCAGGTGCGAGTGGCCAGCAGAGGTCACGAATAAACTGCATCTCTGCGCCTGGCTCTCTACCACCTCTGGTCTTTGTTTCCTGGAGTTTGGGGGTGATTTGAGGCCAC
|
TGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAGGCTTGGAGTGGTTAATTCCTTGCCAAGGCCCCGCAGGAGGAAGCAGGGTCCTGCATGGGAGGCCGGCTAGCCTGCCCACTGCCCCATGTCCCCACAGGTGATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTCAGCTCCCTCTAAAATACTCAGCGGCCAGGGCGGCTGCCACTCTTCACCCCTGCTCCTCCCGGCTGTTACATTGTCAGGGGACAGCATCTGCAGCAGTTGCTGAGGCTCCGTCAGCCCCCTCTTCACCTGTTGTTACAGTGCCTTCTCCCAGGGGCTGGGTGAGGGCACATTCAGGACTAGAAGCCCCTCTGGGCATGGGGTGGACATGGCAGGTCAGCCTGTGGAACTTGCGCAGGTGCGAGTGGCCAGCAGAGGTCACGAATAAACTGCATCTCTGCGCCTGGCTCTCTACCACCTCTGGTCTTTGTTTCCTGGAGTTTGGGGGTGATTTGAGGCCACNNNNNNNN
|
pathogenic
| 305,412 |
Does the variant impacting BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) on chromosome 19, position 41423168, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Maple_syrup_urine_disease']
|
GGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAGGCTTGGAGTGGTTAATTCCTTGCCAAGGCCCCGCAGGAGGAAGCAGGGTCCTGCATGGGAGGCCGGCTAGCCTGCCCACTGCCCCATGTCCCCACAGGTGATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTCAGCTCCCTCTAAAATACTCAGCGGCCAGGGCGGCTGCCACTCTTCACCCCTGCTCCTCCCGGCTGTTACATTGTCAGGGGACAGCATCTGCAGCAGTTGCTGAGGCTCCGTCAGCCCCCTCTTCACCTGTTGTTACAGTGCCTTCTCCCAGGGGCTGGGTGAGGGCACATTCAGGACTAGAAGCCCCTCTGGGCATGGGGTGGACATGGCAGGTCAGCCTGTGGAACTTGCGCAGGTGCGAGTGGCCAGCAGAGGTCACGAATAAACTGCATCTCTGCGCCTGGCTCTCTACCACCTCTGGTCTTTGTTTCCTGGAGTTTGGGGGTGATTTGAGGCCACCCCCAGCTTCTCCACCTTAGATAAATAAGGTCAAGGCTCTTGAGATACCTACTTCCCCCGGAAGCTTGCGCAAGCTGGAAGGTTAACTTCAGCAGACAGGATGGGGGTGGGGGGGTCCTCCAGAGATGGTCTCCTGCTCTCTCACAGAATGGGAGAAGCCTGCTG
|
GGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAGGCTTGGAGTGGTTAATTCCTTGCCAAGGCCCCGCAGGAGGAAGCAGGGTCCTGCATGGGAGGCCGGCTAGCCTGCCCACTGCCCCATGTCCCCACAGGTGATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTCAGCTCCCTCTAAAATACTCAGCGGCCAGGGCGGCTGCCACTCTTCACCCCTGCTCCTCCCGGCTGTTACATTGTCAGGGGACAGCATCTGCAGCAGTTGCTGAGGCTCCGTCAGCCCCCTCTTCACCTGTTGTTACAGTGCCTTCTCCCAGGGGCTGGGTGAGGGCACATTCAGGACTAGAAGCCCCTCTGGGCATGGGGTGGACATGGCAGGTCAGCCTGTGGAACTTGCGCAGGTGCGAGTGGCCAGCAGAGGTCACGAATAAACTGCATCTCTGCGCCTGGCTCTCTACCACCTCTGGTCTTTGTTTCCTGGAGTTTGGGGGTGATTTGAGGCCACCCCCAGCTTCTCCACCTTAGATAAATAAGGTCAAGGCTCTTGAGATACCTACTTCCCCCGGAAGCTTGCGCAAGCTGGAAGGTTAACTTCAGCAGACAGGATGGGGGTGGGGGGGTCCTCCAGAGATGGTCTCCTGCTCTCTCACAGAATGGGAGAAGCCTGCTGN
|
pathogenic
| 305,421 |
Does the variant on chromosome 19 at location 41424549 affecting gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A']
|
TCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAGGCTTGGAGTGGTTAATTCCTTGCCAAGGCCCCGCAGGAGGAAGCAGGGTCCTGCATGGGAGGCCGGCTAGCCTGCCCACTGCCCCATGTCCCCACAGGTGATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTCAGCTCCCTCTAAAATACTCAGCGGCCAGGGCGGCTGCCACTCTTCACCCCTGCTCCTCCCGGCTGTTACATTGTCAGGGGACAGCATCTGCAGCAGTTGCTGAGGCTCCGTCAGCCCCCTCTTCACCTGTTGTTACAGTGCCTTCTCCCAGGGGCTGGGTGAGGGCACATTCAGGACTAGAAGCCCCTCTGGGCATGGGGTGGACATGGCAGGTCAGCCTGTGGAACTTGCGCAGGTGCGAGTGGCCAGCAGAGGTCACGAATAAACTGCATCTCTGCGCCTGGCTCTCTACCACCTCTGGTCTTTGTTTCCTGGAGTTTGGGGGTGATTTGAGGCCACCCCCAGCTTCTCCACCTTAGATAAATAAGGTCAAGGCTCTTGAGATACCTACTTCCCCCGGAAGCTTGCGCAAGCTGGAAGGTTAACTTCAGCAGACAGGATGGGGGTGGGGGGGTCCTCCAGAGATGGTCTCCTGCTCTCTCACAGAATGGGAGAAGCCTGCTGTCCAGCAGAGTGATGGGGAGCCCAGTGGAGCTAGCCCTGCCCAGCAGGGGTGCAGGGGAGCGTCCAGGATGAAGGTCAGGGTGTGGCCAAGCCCTGCTCCCCACCACTCCAGGGCCCCACAGATGCAAAAACAACCCCAGGCCTCAGAGTGGGGAGTGCATGTTTTTCAAAAACAAAAAGTAGGCAAAAACAGTCCACCACCCCATCTTTCCTGCCCAGGCCCCTGGCTGGGGGAGGCCAAGGAGTGGCTTAAGTTGTCCAGCTTCTGGGCCCTCCTCCCTCCCATCAAGACCTGGAAGGAGGGGCTGAGCCAGGGGCCGGCCCCAGAGGCCCAGGCCAGGTCAGCACCTCCGCCCTCCCCAATGAGAGTCAGCACTGGAGCCTTGGGTCTTGCAGTTGTTTCCAGAGCCGAATGCTGGCCTGGGGGCCCAGGGGCCGTACCAGCAGCAGGTTGCGGAAAGCACAGTGGTCCGCAGTGCGGTCTGCTGGCCAGGCTGTGAGGAAGCCTGGGTGGGCCTGGGGCACCAGGCCCAGGGCTCGGATGCAAAGGCCAGTGTAGACGTCCTCAAAGGGGAAGGGTGCCACACGGGCTGCCGCCCGCAGCAGCCAGGGTGCCAGGCGCCCGGCAATGACGTAGCCACCCCCGCTTGCATAGGCTGGGTAGCCACCTTCGAAGAAGGACTCGGGCACATAGAAGGGTCCTCCTGGCTTCCGGAGAGGCATGGCCTGGGTAAAGACCTCACCCAGGTAGAGGCTTCGGGCCGAGGCAGGTGGCAGGGCCCGCAGGTGAGCCAGCAGGGCAGGGGTGTGTACAAAGGCATCGTCCTGAGCTCGCAAGACAAAACTCACGGTGGGGCAGTGGCGGCCCAGCCAGGCCAGCAGCAGCAGGTCTTTGAGCGTCTGGTTGAATGGGACGTCGAGGAAGTCCCAGAGCAGCAGGTCACTGTAGCGACGGCTCTCCCAGGCCACTAGTGAGTCTAGGTCAGGCCCCGCCTCACCCACCGGAGACCCTAGCAGGAAGAGCAGCCGGATCCCTGGAGCTGGACTGCCCCACGTCTCTCTCACGGCCTGTCGTTCTGCAAAGCGCCCTGGTTCTGACTTGACGGCCAACAGCAGGTAGGGGACATCAGTATCTGAGCAGCTGGAGACTTGGCTGCCACCACCTCCAGGCAGCCACTGTGGGAAGCTCCGGCAGGCTGCTGACAGCAAGAAGCGGCGGAGGTCCTTGGGGTAGGAGGCGAAGTCAGGGATCTCGGTGGCGGCGGCGGCCCCCCAAGCCTGGCAGCCCCCCGTTTCAGTGCTGTCCCCACTGGGCAGGGACCCCAGCCGCCACTGCTGCTGGTTCCAGTAAGCAAAGGGCAGCGGGATAGTCTGGCCCAGG
|
TCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAGGCTTGGAGTGGTTAATTCCTTGCCAAGGCCCCGCAGGAGGAAGCAGGGTCCTGCATGGGAGGCCGGCTAGCCTGCCCACTGCCCCATGTCCCCACAGGTGATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGGAGTCTCCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTCAGCTCCCTCTAAAATACTCAGCGGCCAGGGCGGCTGCCACTCTTCACCCCTGCTCCTCCCGGCTGTTACATTGTCAGGGGACAGCATCTGCAGCAGTTGCTGAGGCTCCGTCAGCCCCCTCTTCACCTGTTGTTACAGTGCCTTCTCCCAGGGGCTGGGTGAGGGCACATTCAGGACTAGAAGCCCCTCTGGGCATGGGGTGGACATGGCAGGTCAGCCTGTGGAACTTGCGCAGGTGCGAGTGGCCAGCAGAGGTCACGAATAAACTGCATCTCTGCGCCTGGCTCTCTACCACCTCTGGTCTTTGTTTCCTGGAGTTTGGGGGTGATTTGAGGCCACCCCCAGCTTCTCCACCTTAGATAAATAAGGTCAAGGCTCTTGAGATACCTACTTCCCCCGGAAGCTTGCGCAAGCTGGAAGGTTAACTTCAGCAGACAGGATGGGGGTGGGGGGGTCCTCCAGAGATGGTCTCCTGCTCTCTCACAGAATGGGAGAAGCCTGCTGTCCAGCAGAGTGATGGGGAGCCCAGTGGAGCTAGCCCTGCCCAGCAGGGGTGCAGGGGAGCGTCCAGGATGAAGGTCAGGGTGTGGCCAAGCCCTGCTCCCCACCACTCCAGGGCCCCACAGATGCAAAAACAACCCCAGGCCTCAGAGTGGGGAGTGCATGTTTTTCAAAAACAAAAAGTAGGCAAAAACAGTCCACCACCCCATCTTTCCTGCCCAGGCCCCTGGCTGGGGGAGGCCAAGGAGTGGCTTAAGTTGTCCAGCTTCTGGGCCCTCCTCCCTCCCATCAAGACCTGGAAGGAGGGGCTGAGCCAGGGGCCGGCCCCAGAGGCCCAGGCCAGGTCAGCACCTCCGCCCTCCCCAATGAGAGTCAGCACTGGAGCCTTGGGTCTTGCAGTTGTTTCCAGAGCCGAATGCTGGCCTGGGGGCCCAGGGGCCGTACCAGCAGCAGGTTGCGGAAAGCACAGTGGTCCGCAGTGCGGTCTGCTGGCCAGGCTGTGAGGAAGCCTGGGTGGGCCTGGGGCACCAGGCCCAGGGCTCGGATGCAAAGGCCAGTGTAGACGTCCTCAAAGGGGAAGGGTGCCACACGGGCTGCCGCCCGCAGCAGCCAGGGTGCCAGGCGCCCGGCAATGACGTAGCCACCCCCGCTTGCATAGGCTGGGTAGCCACCTTCGAAGAAGGACTCGGGCACATAGAAGGGTCCTCCTGGCTTCCGGAGAGGCATGGCCTGGGTAAAGACCTCACCCAGGTAGAGGCTTCGGGCCGAGGCAGGTGGCAGGGCCCGCAGGTGAGCCAGCAGGGCAGGGGTGTGTACAAAGGCATCGTCCTGAGCTCGCAAGACAAAACTCACGGTGGGGCAGTGGCGGCCCAGCCAGGCCAGCAGCAGCAGGTCTTTGAGCGTCTGGTTGAATGGGACGTCGAGGAAGTCCCAGAGCAGCAGGTCACTGTAGCGACGGCTCTCCCAGGCCACTAGTGAGTCTAGGTCAGGCCCCGCCTCACCCACCGGAGACCCTAGCAGGAAGAGCAGCCGGATCCCTGGAGCTGGACTGCCCCACGTCTCTCTCACGGCCTGTCGTTCTGCAAAGCGCCCTGGTTCTGACTTGACGGCCAACAGCAGGTAGGGGACATCAGTATCTGAGCAGCTGGAGACTTGGCTGCCACCACCTCCAGGCAGCCACTGTGGGAAGCTCCGGCAGGCTGCTGACAGCAAGAAGCGGCGGAGGTCCTTGGGGTAGGAGGCGAAGTCAGGGATCTCGGTGGCGGCGGCGGCCCCCCAAGCCTGGCAGCCCCCCGTTTCAGTGCTGTCCCCACTGGGCAGGGACCCCAGCCGCCACTGCTGCTGGTTCCAGTAAGCAAAGGGCAGCGGGATAGTCTGGCCCAGGNNN
|
pathogenic
| 305,435 |
Variant chromosome 19, position 41424578, gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha): benign or pathogenic? Disease(s)?
|
pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A']
|
TCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAGGCTTGGAGTGGTTAATTCCTTGCCAAGGCCCCGCAGGAGGAAGCAGGGTCCTGCATGGGAGGCCGGCTAGCCTGCCCACTGCCCCATGTCCCCACAGGTGATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTCAGCTCCCTCTAAAATACTCAGCGGCCAGGGCGGCTGCCACTCTTCACCCCTGCTCCTCCCGGCTGTTACATTGTCAGGGGACAGCATCTGCAGCAGTTGCTGAGGCTCCGTCAGCCCCCTCTTCACCTGTTGTTACAGTGCCTTCTCCCAGGGGCTGGGTGAGGGCACATTCAGGACTAGAAGCCCCTCTGGGCATGGGGTGGACATGGCAGGTCAGCCTGTGGAACTTGCGCAGGTGCGAGTGGCCAGCAGAGGTCACGAATAAACTGCATCTCTGCGCCTGGCTCTCTACCACCTCTGGTCTTTGTTTCCTGGAGTTTGGGGGTGATTTGAGGCCACCCCCAGCTTCTCCACCTTAGATAAATAAGGTCAAGGCTCTTGAGATACCTACTTCCCCCGGAAGCTTGCGCAAGCTGGAAGGTTAACTTCAGCAGACAGGATGGGGGTGGGGGGGTCCTCCAGAGATGGTCTCCTGCTCTCTCACAGAATGGGAGAAGCCTGCTGTCCAGCAGAGTGATGGGGAGCCCAGTGGAGCTAGCCCTGCCCAGCAGGGGTGCAGGGGAGCGTCCAGGATGAAGGTCAGGGTGTGGCCAAGCCCTGCTCCCCACCACTCCAGGGCCCCACAGATGCAAAAACAACCCCAGGCCTCAGAGTGGGGAGTGCATGTTTTTCAAAAACAAAAAGTAGGCAAAAACAGTCCACCACCCCATCTTTCCTGCCCAGGCCCCTGGCTGGGGGAGGCCAAGGAGTGGCTTAAGTTGTCCAGCTTCTGGGCCCTCCTCCCTCCCATCAAGACCTGGAAGGAGGGGCTGAGCCAGGGGCCGGCCCCAGAGGCCCAGGCCAGGTCAGCACCTCCGCCCTCCCCAATGAGAGTCAGCACTGGAGCCTTGGGTCTTGCAGTTGTTTCCAGAGCCGAATGCTGGCCTGGGGGCCCAGGGGCCGTACCAGCAGCAGGTTGCGGAAAGCACAGTGGTCCGCAGTGCGGTCTGCTGGCCAGGCTGTGAGGAAGCCTGGGTGGGCCTGGGGCACCAGGCCCAGGGCTCGGATGCAAAGGCCAGTGTAGACGTCCTCAAAGGGGAAGGGTGCCACACGGGCTGCCGCCCGCAGCAGCCAGGGTGCCAGGCGCCCGGCAATGACGTAGCCACCCCCGCTTGCATAGGCTGGGTAGCCACCTTCGAAGAAGGACTCGGGCACATAGAAGGGTCCTCCTGGCTTCCGGAGAGGCATGGCCTGGGTAAAGACCTCACCCAGGTAGAGGCTTCGGGCCGAGGCAGGTGGCAGGGCCCGCAGGTGAGCCAGCAGGGCAGGGGTGTGTACAAAGGCATCGTCCTGAGCTCGCAAGACAAAACTCACGGTGGGGCAGTGGCGGCCCAGCCAGGCCAGCAGCAGCAGGTCTTTGAGCGTCTGGTTGAATGGGACGTCGAGGAAGTCCCAGAGCAGCAGGTCACTGTAGCGACGGCTCTCCCAGGCCACTAGTGAGTCTAGGTCAGGCCCCGCCTCACCCACCGGAGACCCTAGCAGGAAGAGCAGCCGGATCCCTGGAGCTGGACTGCCCCACGTCTCTCTCACGGCCTGTCGTTCTGCAAAGCGCCCTGGTTCTGACTTGACGGCCAACAGCAGGTAGGGGACATCAGTATCTGAGCAGCTGGAGACTTGGCTGCCACCACCTCCAGGCAGCCACTGTGGGAAGCTCCGGCAGGCTGCTGACAGCAAGAAGCGGCGGAGGTCCTTGGGGTAGGAGGCGAAGTCAGGGATCTCGGTGGCGGCGGCGGCCCCCCAAGCCTGGCAGCCCCCCGTTTCAGTGCTGTCCCCACTGGGCAGGGACCCCAGCCGCCACTGCTGCTGGTTCCAGTAAGCAAAGGGCAGCGGGATAGTCTGGCCCAGGCGGGTGGAGAGGTTGGCAGGTAGGGTGGG
|
TCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAGGCTTGGAGTGGTTAATTCCTTGCCAAGGCCCCGCAGGAGGAAGCAGGGTCCTGCATGGGAGGCCGGCTAGCCTGCCCACTGCCCCATGTCCCCACAGGTGATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTCAGCTCCCTCTAAAATACTCAGCGGCCAGGGCGGCTGCCACTCTTCACCCCTGCTCCTCCCGGCTGTTACATTGTCAGGGGACAGCATCTGCAGCAGTTGCTGAGGCTCCGTCAGCCCCCTCTTCACCTGTTGTTACAGTGCCTTCTCCCAGGGGCTGGGTGAGGGCACATTCAGGACTAGAAGCCCCTCTGGGCATGGGGTGGACATGGCAGGTCAGCCTGTGGAACTTGCGCAGGTGCGAGTGGCCAGCAGAGGTCACGAATAAACTGCATCTCTGCGCCTGGCTCTCTACCACCTCTGGTCTTTGTTTCCTGGAGTTTGGGGGTGATTTGAGGCCACCCCCAGCTTCTCCACCTTAGATAAATAAGGTCAAGGCTCTTGAGATACCTACTTCCCCCGGAAGCTTGCGCAAGCTGGAAGGTTAACTTCAGCAGACAGGATGGGGGTGGGGGGGTCCTCCAGAGATGGTCTCCTGCTCTCTCACAGAATGGGAGAAGCCTGCTGTCCAGCAGAGTGATGGGGAGCCCAGTGGAGCTAGCCCTGCCCAGCAGGGGTGCAGGGGAGCGTCCAGGATGAAGGTCAGGGTGTGGCCAAGCCCTGCTCCCCACCACTCCAGGGCCCCACAGATGCAAAAACAACCCCAGGCCTCAGAGTGGGGAGTGCATGTTTTTCAAAAACAAAAAGTAGGCAAAAACAGTCCACCACCCCATCTTTCCTGCCCAGGCCCCTGGCTGGGGGAGGCCAAGGAGTGGCTTAAGTTGTCCAGCTTCTGGGCCCTCCTCCCTCCCATCAAGACCTGGAAGGAGGGGCTGAGCCAGGGGCCGGCCCCAGAGGCCCAGGCCAGGTCAGCACCTCCGCCCTCCCCAATGAGAGTCAGCACTGGAGCCTTGGGTCTTGCAGTTGTTTCCAGAGCCGAATGCTGGCCTGGGGGCCCAGGGGCCGTACCAGCAGCAGGTTGCGGAAAGCACAGTGGTCCGCAGTGCGGTCTGCTGGCCAGGCTGTGAGGAAGCCTGGGTGGGCCTGGGGCACCAGGCCCAGGGCTCGGATGCAAAGGCCAGTGTAGACGTCCTCAAAGGGGAAGGGTGCCACACGGGCTGCCGCCCGCAGCAGCCAGGGTGCCAGGCGCCCGGCAATGACGTAGCCACCCCCGCTTGCATAGGCTGGGTAGCCACCTTCGAAGAAGGACTCGGGCACATAGAAGGGTCCTCCTGGCTTCCGGAGAGGCATGGCCTGGGTAAAGACCTCACCCAGGTAGAGGCTTCGGGCCGAGGCAGGTGGCAGGGCCCGCAGGTGAGCCAGCAGGGCAGGGGTGTGTACAAAGGCATCGTCCTGAGCTCGCAAGACAAAACTCACGGTGGGGCAGTGGCGGCCCAGCCAGGCCAGCAGCAGCAGGTCTTTGAGCGTCTGGTTGAATGGGACGTCGAGGAAGTCCCAGAGCAGCAGGTCACTGTAGCGACGGCTCTCCCAGGCCACTAGTGAGTCTAGGTCAGGCCCCGCCTCACCCACCGGAGACCCTAGCAGGAAGAGCAGCCGGATCCCTGGAGCTGGACTGCCCCACGTCTCTCTCACGGCCTGTCGTTCTGCAAAGCGCCCTGGTTCTGACTTGACGGCCAACAGCAGGTAGGGGACATCAGTATCTGAGCAGCTGGAGACTTGGCTGCCACCACCTCCAGGCAGCCACTGTGGGAAGCTCCGGCAGGCTGCTGACAGCAAGAAGCGGCGGAGGTCCTTGGGGTAGGAGGCGAAGTCAGGGATCTCGGTGGCGGCGGCGGCCCCCCAAGCCTGGCAGCCCCCCGTTTCAGTGCTGTCCCCACTGGGCAGGGACCCCAGCCGCCACTGCTGCTGGTTCCAGTAAGCAAAGGGCAGCGGGATAGTCTGGCCCAGGCGGGTGGAGAGGTTGGCAGGTAGGGTGGGNN
|
pathogenic
| 305,438 |
Mutation at chromosome 19, position 41860143, within RPS19 (ribosomal protein S19): benign or pathogenic? If pathogenic, indicate the disease(s).
|
benign
|
AGTGAAAATGGGACATCTCATTCTTACCTGGAAAGTCTAAGTCACTTTGACACAGAGAAGCAGTCATGATCTCAGAGAAGCGGTTTTTAGAGACAACATTGTACATTTATCTAAACTTTCTAATGTCCAAGGAAGCAGAATCCTGGGTCTGCTCCTCGCCCAGGCATGATGTTAGCTCCGTTGCATAAATACATGCCTGCTTTGCCTTATGTCCATCAAAACTCTGCTTTATATAAATTTTACCTAAGCTTCACTCTTCCCAAAATCCTATATTCACCCTGTCTCTTCCTTTGGTCAGGCACTCCAGAGTTCCTCTGGAGAGCTTTAAAAAAAAAAATTAAATTCAATGAAATGACTTAAATGAATTAAGTGTAAATGATTCAGAACTGGTATTAGAAATTATTAAAAGTGGGGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCCAACGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAAACCCGTCTCTATAAAAATACAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACCTGGGAGCCTGAGGCCGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAACCAAGATCACATCATTGCACTCCCGCCTGGGCGACAAAGCGAGACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGGTTGGTTTTAATTTTTCTAACAGATACGAGTCTTGGCTTATTAATAATTAACACATTTTGCAGCCACAGTATCAGTGTGGGGTAAAATTCTAATATTTGCTCTTATGTTTTAAATTCTCAGTCTTTCCAACATAAGAAAATAGCTACACACATTTCAGTGTTTCCTTTTTGCAACAAGTTAACATAATTTTATTGGACCACGTTATTTAGTTGTTGGGCCTTGTAAGGATTAAATGAGATCATGCATGTAACACTACAGTAACAGCCACATGATAAATGTCCAAATAATATTTACCTGTGCCTGGCACAGAGCAGGCACTCAAAAAATATTTTTTAGAGCATGTGACGCGCCATGAACCAGAGGAGCCACTTTAAATGGACAAACGGGGATCTCATTTTTTTTTTTTTTTTTTAATGGTGAGACAAGCCCTGAGAAGGCAAATGGACTGCCTAAAGCTACACAGGTCAGCGGGGCAGGTAAATCTAAATTGGCAAAGTAAGGGCTGAGCGAACAGACTCCGACACTAGAAGGCAGAGCTGAACTAACTTCTGCTAAGGTCCCGCCTCTGCCGCTTTGTCCCGCCCTTATCTTCTCCCCTCCTCCAGCGCCTCATTCCCTTTTCGCTCGCCCCGGCCGTGCTGAAGCAACTTCCGCCCTGAGAAGGGTGGGGCTTCCGTCTCCCGCTCTCGCGACTCCTGGCGGTGAAGGACGGAAGATGATAGCCACATTTCTTCCTCGCCCTTCCCCTAGGTTCCCTGTCACAGTTCCGCCCTTACTACTCCCACTTCCGGCCAGGGAACAGCCACTTCCACCCGGAAAAGGGGTTGTTCCGCCGTGGGGCGCCAGCTGTGGCCCACCCATCCTGCCCCGTACTTTCGCCATCATAGTATTCTCCACCACTGTTCCTTCCAGCCACGAACGACGCAAACGAAGCCAAGTTCCCCCAGCTCCGAACAGGAGCTCTCTATCCTCTCTCTATTACACTCCGGGAGAAGGAAACGCGGGAGGAAACCCAGGCCTCCACGCGCGACCCCTTGGCCCTCCCCTTTACCTCTCCACCCCTCACTAGACACCCTCCCCTCTAGGCGGGGACGAACTTTCGCCCTGAGAGAGGCGGAGCCTCAGCGTCTACCCTCGCTCTCGCGAGCTTTCGGAACTCTCGCGAGACCCTACGCCCGACTTGTGCGCCCGGGAAACCCCGTCGTTCCCTTTCCCCTGGCTGGCAGCGCGGAGGCCGCACGGTAAGCGGGGGCTCCGAGCTGGACCGGGCGCGAGGCGGCAGGGCCGGACGCCGAAGCCTCAGAGCGCGTGCCTGAGGGCCCCGAGGCGCCCGGCGCGGGCCCGTCCCGCCCCCTAGAGCCGCGGCCACGTGCGAGCGGCAGGCCCGGACATGCCCGGTCAGCGCCGTCCGGGAACCGAGCGTGGGCCCCGGGGGGCAGCGGCGGGGTGCGTGGGGCGTCCGGAGTCCCGGGGCTGGGGAGTGGGGTCGCGCAGGATCCTCACACGCAGGGGCCGGGCTCTGTTAGTGCGATCCAGAGAGGCCGTGGGCGTCGGTGAGCTCCTTCAGACCCGCAGGAGCCGGAGCCCGGCGTTGAAGGGGCCGTGGGAAGTAACGGGGGGTACCACGGTTTAGGATGCGCTGGAGCGAAAGGATTGGGGTGGGGTCCGTGCTCTTGGCAGTCGTCTCTGCCAGGCCTGTGTTCACATGCTTGACTTTCTCCCTCAGATGCCTGGAGTTACTGTAAAAGACGTGAACCAGCAGGAGTTCGTCAGAGCTCTGGCAGCCTTCCTCAAAAAGTGAGTTTGGGGACTGAGGTTCAAAACGGGTGGAGGCTGTCGCCTTGGCCTGCCCATCTGAGCCCCAGTGTTTGCCGGTCCCTGGCAGGCGAGGCTTGTTTGGGGCCTCCGTGGCTCCTTTCAGCGTGAGGCCTGGCTTGTGTTCCGGTTCCAGCCTCTCTTTGTACTCTGGGCACAGCATAGTTGTGTTGAGGGGAGGGCATTTGGGATATGGGGTAGTTTGTGGAGATGACTGAATCGTGCTTTTCCCACTGTTTTGGTCTTAGGTCCGGGAAGCTGAAAGTCCCCGAATGGGTGGATACCGTCAAGCTGGCCAAGCACAAAGAGCTTGCTCCCTACGATGAGAACTGGTTCTACACGCGAGCTGGTGAGGAACTTAGGTCTTTGGCTGGAGAGTGGGGAGCTGGGTGACCCCTGGCACAAACCATACTTCCCTGTCTCCTCTGAGCTCTTTCCCGCCCCAAGAGGGAGAGAAACCCTTGGTTGTGTCACCACTTGCTTTGTGTGATGTGACATTCGATAACTTGGTACTCCAAGTTTTTATGACATTCTAAGAGCTTTGTGAGAGGAGGACCTGTGGCTTTGAGCCTCAGGGGAAACCAGAGACAGATGAATGTTCATATTTTGCTTACAGGTGGTTTAATCCTTTCTATATACACGGAGGCAGACTCCCTGGGTTTGGATCCATCTTTTACATCTGGCTGTGTGTCCTCTGGCAAGTTGGTTAACCTGCCTGTGCACTCTCTCATCCCCAAAATGGGACTAATTATTGTACCAGTACTAGAGTATTGCAAGGATTGAATGAATTTAAAGCAGAGTGTTTAGAACGTGTCTGTTGCACAGTAGTTATTCAGGAAAAAGCCAGTTGTCTTTACTATTGCTCAGATCATCAAGTTAGCCTTCTCCATATCTCTAACAGGCTGTTTCTAACTAAATGGTTGGAGATCTGGCCAGGTCAGTCCCTGCTTTAAATCTTGACTTCTGATCTTATGGACACCCTGCAACCTCGTGCCAGCCCCGTCTCTTTTCAATCTTCCAATAATAATTTATGTACAGTCCCTGACTAGTGTTAGTTCTCACGTGTCTTAATATTTCAGTACTCACTAAATCTTCACTTTCAGGAAGATGTAACAGGGTGGGCGGTGGCAGTGCCGTGTTATGTCAAGGTGACAGCCTTAGCACCGACCTTCACTAAGGGGCCTCGGCCTCTCCAATCTTAAACCTTCTCTCTCTGTGAAGTGGGGACTCCATCCTGACCACAACTTGTCTCCAGATAAGAAGTAGGTGGGAAGCAGGGTTTGGAAATCGGCAAAACTCCTCCATGACCCGGAAAAGAGTTGGCCTT
|
AGTGAAAATGGGACATCTCATTCTTACCTGGAAAGTCTAAGTCACTTTGACACAGAGAAGCAGTCATGATCTCAGAGAAGCGGTTTTTAGAGACAACATTGTACATTTATCTAAACTTTCTAATGTCCAAGGAAGCAGAATCCTGGGTCTGCTCCTCGCCCAGGCATGATGTTAGCTCCGTTGCATAAATACATGCCTGCTTTGCCTTATGTCCATCAAAACTCTGCTTTATATAAATTTTACCTAAGCTTCACTCTTCCCAAAATCCTATATTCACCCTGTCTCTTCCTTTGGTCAGGCACTCCAGAGTTCCTCTGGAGAGCTTTAAAAAAAAAAATTAAATTCAATGAAATGACTTAAATGAATTAAGTGTAAATGATTCAGAACTGGTATTAGAAATTATTAAAAGTGGGGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCCAACGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAAACCCGTCTCTATAAAAATACAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACCTGGGAGCCTGAGGCCGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAACCAAGATCACATCATTGCACTCCCGCCTGGGCGACAAAGCGAGACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGGTTGGTTTTAATTTTTCTAACAGATACGAGTCTTGGCTTATTAATAATTAACACATTTTGCAGCCACAGTATCAGTGTGGGGTAAAATTCTAATATTTGCTCTTATGTTTTAAATTCTCAGTCTTTCCAACATAAGAAAATAGCTACACACATTTCAGTGTTTCCTTTTTGCAACAAGTTAACATAATTTTATTGGACCACGTTATTTAGTTGTTGGGCCTTGTAAGGATTAAATGAGATCATGCATGTAACACTACAGTAACAGCCACATGATAAATGTCCAAATAATATTTACCTGTGCCTGGCACAGAGCAGGCACTCAAAAAATATTTTTTAGAGCATGTGACGCGCCATGAACCAGAGGAGCCACTTTAAATGGACAAACGGGGATCTCATTTTTTTTTTTTTTTTTTAATGGTGAGACAAGCCCTGAGAAGGCAAATGGACTGCCTAAAGCTACACAGGTCAGCGGGGCAGGTAAATCTAAATTGGCAAAGTAAGGGCTGAGCGAACAGACTCCGACACTAGAAGGCAGAGCTGAACTAACTTCTGCTAAGGTCCCGCCTCTGCCGCTTTGTCCCGCCCTTATCTTCTCCCCTCCTCCAGCGCCTCATTCCCTTTTCGCTCGCCCCGGCCGTGCTGAAGCAACTTCCGCCCTGAGAAGGGTGGGGCTTCCGTCTCCCGCTCTCGCGACTCCTGGCGGTGAAGGACGGAAGATGATAGCCACATTTCTTCCTCGCCCTTCCCCTAGGTTCCCTGTCACAGTTCCGCCCTTACTACTCCCACTTCCGGCCAGGGAACAGCCACTTCCACCCGGAAAAGGGGTTGTTCCGCCGTGGGGCGCCAGCTGTGGCCCACCCATCCTGCCCCGTACTTTCGCCATCATAGTATTCTCCACCACTGTTCCTTCCAGCCACGAACGACGCAAACGAAGCCAAGTTCCCCCAGCTCCGAACAGGAGCTCTCTATCCTCTCTCTATTACACTCCGGGAGAAGGAAACGCGGGAGGAAACCCAGGCCTCCACGCGCGACCCCTTGGCCCTCCCCTTTACCTCTCCACCCCTCACTAGACACCCTCCCCTCTAGGCGGGGACGAAGCCACTTTCGCCCTGAGAGAGGCGGAGCCTCAGCGTCTACCCTCGCTCTCGCGAGCTTTCGGAACTCTCGCGAGACCCTACGCCCGACTTGTGCGCCCGGGAAACCCCGTCGTTCCCTTTCCCCTGGCTGGCAGCGCGGAGGCCGCACGGTAAGCGGGGGCTCCGAGCTGGACCGGGCGCGAGGCGGCAGGGCCGGACGCCGAAGCCTCAGAGCGCGTGCCTGAGGGCCCCGAGGCGCCCGGCGCGGGCCCGTCCCGCCCCCTAGAGCCGCGGCCACGTGCGAGCGGCAGGCCCGGACATGCCCGGTCAGCGCCGTCCGGGAACCGAGCGTGGGCCCCGGGGGGCAGCGGCGGGGTGCGTGGGGCGTCCGGAGTCCCGGGGCTGGGGAGTGGGGTCGCGCAGGATCCTCACACGCAGGGGCCGGGCTCTGTTAGTGCGATCCAGAGAGGCCGTGGGCGTCGGTGAGCTCCTTCAGACCCGCAGGAGCCGGAGCCCGGCGTTGAAGGGGCCGTGGGAAGTAACGGGGGGTACCACGGTTTAGGATGCGCTGGAGCGAAAGGATTGGGGTGGGGTCCGTGCTCTTGGCAGTCGTCTCTGCCAGGCCTGTGTTCACATGCTTGACTTTCTCCCTCAGATGCCTGGAGTTACTGTAAAAGACGTGAACCAGCAGGAGTTCGTCAGAGCTCTGGCAGCCTTCCTCAAAAAGTGAGTTTGGGGACTGAGGTTCAAAACGGGTGGAGGCTGTCGCCTTGGCCTGCCCATCTGAGCCCCAGTGTTTGCCGGTCCCTGGCAGGCGAGGCTTGTTTGGGGCCTCCGTGGCTCCTTTCAGCGTGAGGCCTGGCTTGTGTTCCGGTTCCAGCCTCTCTTTGTACTCTGGGCACAGCATAGTTGTGTTGAGGGGAGGGCATTTGGGATATGGGGTAGTTTGTGGAGATGACTGAATCGTGCTTTTCCCACTGTTTTGGTCTTAGGTCCGGGAAGCTGAAAGTCCCCGAATGGGTGGATACCGTCAAGCTGGCCAAGCACAAAGAGCTTGCTCCCTACGATGAGAACTGGTTCTACACGCGAGCTGGTGAGGAACTTAGGTCTTTGGCTGGAGAGTGGGGAGCTGGGTGACCCCTGGCACAAACCATACTTCCCTGTCTCCTCTGAGCTCTTTCCCGCCCCAAGAGGGAGAGAAACCCTTGGTTGTGTCACCACTTGCTTTGTGTGATGTGACATTCGATAACTTGGTACTCCAAGTTTTTATGACATTCTAAGAGCTTTGTGAGAGGAGGACCTGTGGCTTTGAGCCTCAGGGGAAACCAGAGACAGATGAATGTTCATATTTTGCTTACAGGTGGTTTAATCCTTTCTATATACACGGAGGCAGACTCCCTGGGTTTGGATCCATCTTTTACATCTGGCTGTGTGTCCTCTGGCAAGTTGGTTAACCTGCCTGTGCACTCTCTCATCCCCAAAATGGGACTAATTATTGTACCAGTACTAGAGTATTGCAAGGATTGAATGAATTTAAAGCAGAGTGTTTAGAACGTGTCTGTTGCACAGTAGTTATTCAGGAAAAAGCCAGTTGTCTTTACTATTGCTCAGATCATCAAGTTAGCCTTCTCCATATCTCTAACAGGCTGTTTCTAACTAAATGGTTGGAGATCTGGCCAGGTCAGTCCCTGCTTTAAATCTTGACTTCTGATCTTATGGACACCCTGCAACCTCGTGCCAGCCCCGTCTCTTTTCAATCTTCCAATAATAATTTATGTACAGTCCCTGACTAGTGTTAGTTCTCACGTGTCTTAATATTTCAGTACTCACTAAATCTTCACTTTCAGGAAGATGTAACAGGGTGGGCGGTGGCAGTGCCGTGTTATGTCAAGGTGACAGCCTTAGCACCGACCTTCACTAAGGGGCCTCGGCCTCTCCAATCTTAAACCTTCTCTCTCTGTGAAGTGGGGACTCCATCCTGACCACAACTTGTCTCCAGATAAGAAGTAGGTGGGAAGCAGGGTTTGGAAATCGGCAAAACTCCTCCATGACCCGGAAAAGAGTTGG
|
benign
| 305,483 |
Is the genetic change at chromosome 19, position 41860786, within gene RPS19 (ribosomal protein S19) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Diamond-Blackfan_anemia']
|
AAGATCACATCATTGCACTCCCGCCTGGGCGACAAAGCGAGACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGGTTGGTTTTAATTTTTCTAACAGATACGAGTCTTGGCTTATTAATAATTAACACATTTTGCAGCCACAGTATCAGTGTGGGGTAAAATTCTAATATTTGCTCTTATGTTTTAAATTCTCAGTCTTTCCAACATAAGAAAATAGCTACACACATTTCAGTGTTTCCTTTTTGCAACAAGTTAACATAATTTTATTGGACCACGTTATTTAGTTGTTGGGCCTTGTAAGGATTAAATGAGATCATGCATGTAACACTACAGTAACAGCCACATGATAAATGTCCAAATAATATTTACCTGTGCCTGGCACAGAGCAGGCACTCAAAAAATATTTTTTAGAGCATGTGACGCGCCATGAACCAGAGGAGCCACTTTAAATGGACAAACGGGGATCTCATTTTTTTTTTTTTTTTTTAATGGTGAGACAAGCCCTGAGAAGGCAAATGGACTGCCTAAAGCTACACAGGTCAGCGGGGCAGGTAAATCTAAATTGGCAAAGTAAGGGCTGAGCGAACAGACTCCGACACTAGAAGGCAGAGCTGAACTAACTTCTGCTAAGGTCCCGCCTCTGCCGCTTTGTCCCGCCCTTATCTTCTCCCCTCCTCCAGCGCCTCATTCCCTTTTCGCTCGCCCCGGCCGTGCTGAAGCAACTTCCGCCCTGAGAAGGGTGGGGCTTCCGTCTCCCGCTCTCGCGACTCCTGGCGGTGAAGGACGGAAGATGATAGCCACATTTCTTCCTCGCCCTTCCCCTAGGTTCCCTGTCACAGTTCCGCCCTTACTACTCCCACTTCCGGCCAGGGAACAGCCACTTCCACCCGGAAAAGGGGTTGTTCCGCCGTGGGGCGCCAGCTGTGGCCCACCCATCCTGCCCCGTACTTTCGCCATCATAGTATTCTCCACCACTGTTCCTTCCAGCCACGAACGACGCAAACGAAGCCAAGTTCCCCCAGCTCCGAACAGGAGCTCTCTATCCTCTCTCTATTACACTCCGGGAGAAGGAAACGCGGGAGGAAACCCAGGCCTCCACGCGCGACCCCTTGGCCCTCCCCTTTACCTCTCCACCCCTCACTAGACACCCTCCCCTCTAGGCGGGGACGAACTTTCGCCCTGAGAGAGGCGGAGCCTCAGCGTCTACCCTCGCTCTCGCGAGCTTTCGGAACTCTCGCGAGACCCTACGCCCGACTTGTGCGCCCGGGAAACCCCGTCGTTCCCTTTCCCCTGGCTGGCAGCGCGGAGGCCGCACGGTAAGCGGGGGCTCCGAGCTGGACCGGGCGCGAGGCGGCAGGGCCGGACGCCGAAGCCTCAGAGCGCGTGCCTGAGGGCCCCGAGGCGCCCGGCGCGGGCCCGTCCCGCCCCCTAGAGCCGCGGCCACGTGCGAGCGGCAGGCCCGGACATGCCCGGTCAGCGCCGTCCGGGAACCGAGCGTGGGCCCCGGGGGGCAGCGGCGGGGTGCGTGGGGCGTCCGGAGTCCCGGGGCTGGGGAGTGGGGTCGCGCAGGATCCTCACACGCAGGGGCCGGGCTCTGTTAGTGCGATCCAGAGAGGCCGTGGGCGTCGGTGAGCTCCTTCAGACCCGCAGGAGCCGGAGCCCGGCGTTGAAGGGGCCGTGGGAAGTAACGGGGGGTACCACGGTTTAGGATGCGCTGGAGCGAAAGGATTGGGGTGGGGTCCGTGCTCTTGGCAGTCGTCTCTGCCAGGCCTGTGTTCACATGCTTGACTTTCTCCCTCAGATGCCTGGAGTTACTGTAAAAGACGTGAACCAGCAGGAGTTCGTCAGAGCTCTGGCAGCCTTCCTCAAAAAGTGAGTTTGGGGACTGAGGTTCAAAACGGGTGGAGGCTGTCGCCTTGGCCTGCCCATCTGAGCCCCAGTGTTTGCCGGTCCCTGGCAGGCGAGGCTTGTTTGGGGCCTCCGTGGCTCCTTTCAGCGTGAGGCCTGGCTTGTGTTCCGGTTCCAGCCTCTCTTTGTACTCTGGGCACAGCATAGTTGTGTTGAGGGGAGGGCATTTGGGATATGGGGTAGTTTGTGGAGATGACTGAATCGTGCTTTTCCCACTGTTTTGGTCTTAGGTCCGGGAAGCTGAAAGTCCCCGAATGGGTGGATACCGTCAAGCTGGCCAAGCACAAAGAGCTTGCTCCCTACGATGAGAACTGGTTCTACACGCGAGCTGGTGAGGAACTTAGGTCTTTGGCTGGAGAGTGGGGAGCTGGGTGACCCCTGGCACAAACCATACTTCCCTGTCTCCTCTGAGCTCTTTCCCGCCCCAAGAGGGAGAGAAACCCTTGGTTGTGTCACCACTTGCTTTGTGTGATGTGACATTCGATAACTTGGTACTCCAAGTTTTTATGACATTCTAAGAGCTTTGTGAGAGGAGGACCTGTGGCTTTGAGCCTCAGGGGAAACCAGAGACAGATGAATGTTCATATTTTGCTTACAGGTGGTTTAATCCTTTCTATATACACGGAGGCAGACTCCCTGGGTTTGGATCCATCTTTTACATCTGGCTGTGTGTCCTCTGGCAAGTTGGTTAACCTGCCTGTGCACTCTCTCATCCCCAAAATGGGACTAATTATTGTACCAGTACTAGAGTATTGCAAGGATTGAATGAATTTAAAGCAGAGTGTTTAGAACGTGTCTGTTGCACAGTAGTTATTCAGGAAAAAGCCAGTTGTCTTTACTATTGCTCAGATCATCAAGTTAGCCTTCTCCATATCTCTAACAGGCTGTTTCTAACTAAATGGTTGGAGATCTGGCCAGGTCAGTCCCTGCTTTAAATCTTGACTTCTGATCTTATGGACACCCTGCAACCTCGTGCCAGCCCCGTCTCTTTTCAATCTTCCAATAATAATTTATGTACAGTCCCTGACTAGTGTTAGTTCTCACGTGTCTTAATATTTCAGTACTCACTAAATCTTCACTTTCAGGAAGATGTAACAGGGTGGGCGGTGGCAGTGCCGTGTTATGTCAAGGTGACAGCCTTAGCACCGACCTTCACTAAGGGGCCTCGGCCTCTCCAATCTTAAACCTTCTCTCTCTGTGAAGTGGGGACTCCATCCTGACCACAACTTGTCTCCAGATAAGAAGTAGGTGGGAAGCAGGGTTTGGAAATCGGCAAAACTCCTCCATGACCCGGAAAAGAGTTGGCCTTGGTACAGGTTGCTTGGCCCTTCAGAATATGAAGCATTTTGTAGATTTGTGGTACACTTGTGCCTCAAATGTCTATTGGGGCCCACTCTTTCAGGCCATGGAGTGAGCACAGAGGACCAGCATAACTCAGCCGCGGCCTCTGAGGACTGAAAGATGAACTTGCTGAGGTGGGTCGGGTTGCTGGCATACCACCTACCCACCGTTTGTTTTAGACAGAAAATGGGGCGGATGAAGAGAAGCTGACTTCCCTGGGCGCACAGCAGTGACAAGCCCTGGAAGTTACATATCTCCTCCACCTGTCCCCCCATCTTGCTTTGGCAGTGCCTCAAGGGTCAGTTGGTCAGAGCAGCTTTGGATCTGGGATTAGCCTTTCTCATTTGCTGGGGTGAAGACACGTTCTGCACATACCAAATACCTCCAAAGTAGGACTGTATGTGTCTTGTACATTTTTTTTTTTTTTTTTAACATGGGGAGGGATTAACAAGAGATGGCATTAAGACCTTGGATAATAAACCTAGTTGCATCTGCTGGTCATGGTAGAGCTGCTGTGGTCCCTTGCAGCCCACAGTGGCCCTGCCTGGAAACCTCAAGCAGGATGTGCATCTTCTGCCTGCCTACTGATCTCCATCACTTGGAGTACCCCA
|
AAGATCACATCATTGCACTCCCGCCTGGGCGACAAAGCGAGACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGGTTGGTTTTAATTTTTCTAACAGATACGAGTCTTGGCTTATTAATAATTAACACATTTTGCAGCCACAGTATCAGTGTGGGGTAAAATTCTAATATTTGCTCTTATGTTTTAAATTCTCAGTCTTTCCAACATAAGAAAATAGCTACACACATTTCAGTGTTTCCTTTTTGCAACAAGTTAACATAATTTTATTGGACCACGTTATTTAGTTGTTGGGCCTTGTAAGGATTAAATGAGATCATGCATGTAACACTACAGTAACAGCCACATGATAAATGTCCAAATAATATTTACCTGTGCCTGGCACAGAGCAGGCACTCAAAAAATATTTTTTAGAGCATGTGACGCGCCATGAACCAGAGGAGCCACTTTAAATGGACAAACGGGGATCTCATTTTTTTTTTTTTTTTTTAATGGTGAGACAAGCCCTGAGAAGGCAAATGGACTGCCTAAAGCTACACAGGTCAGCGGGGCAGGTAAATCTAAATTGGCAAAGTAAGGGCTGAGCGAACAGACTCCGACACTAGAAGGCAGAGCTGAACTAACTTCTGCTAAGGTCCCGCCTCTGCCGCTTTGTCCCGCCCTTATCTTCTCCCCTCCTCCAGCGCCTCATTCCCTTTTCGCTCGCCCCGGCCGTGCTGAAGCAACTTCCGCCCTGAGAAGGGTGGGGCTTCCGTCTCCCGCTCTCGCGACTCCTGGCGGTGAAGGACGGAAGATGATAGCCACATTTCTTCCTCGCCCTTCCCCTAGGTTCCCTGTCACAGTTCCGCCCTTACTACTCCCACTTCCGGCCAGGGAACAGCCACTTCCACCCGGAAAAGGGGTTGTTCCGCCGTGGGGCGCCAGCTGTGGCCCACCCATCCTGCCCCGTACTTTCGCCATCATAGTATTCTCCACCACTGTTCCTTCCAGCCACGAACGACGCAAACGAAGCCAAGTTCCCCCAGCTCCGAACAGGAGCTCTCTATCCTCTCTCTATTACACTCCGGGAGAAGGAAACGCGGGAGGAAACCCAGGCCTCCACGCGCGACCCCTTGGCCCTCCCCTTTACCTCTCCACCCCTCACTAGACACCCTCCCCTCTAGGCGGGGACGAACTTTCGCCCTGAGAGAGGCGGAGCCTCAGCGTCTACCCTCGCTCTCGCGAGCTTTCGGAACTCTCGCGAGACCCTACGCCCGACTTGTGCGCCCGGGAAACCCCGTCGTTCCCTTTCCCCTGGCTGGCAGCGCGGAGGCCGCACGGTAAGCGGGGGCTCCGAGCTGGACCGGGCGCGAGGCGGCAGGGCCGGACGCCGAAGCCTCAGAGCGCGTGCCTGAGGGCCCCGAGGCGCCCGGCGCGGGCCCGTCCCGCCCCCTAGAGCCGCGGCCACGTGCGAGCGGCAGGCCCGGACATGCCCGGTCAGCGCCGTCCGGGAACCGAGCGTGGGCCCCGGGGGGCAGCGGCGGGGTGCGTGGGGCGTCCGGAGTCCCGGGGCTGGGGAGTGGGGTCGCGCAGGATCCTCACACGCAGGGGCCGGGCTCTGTTAGTGCGATCCAGAGAGGCCGTGGGCGTCGGTGAGCTCCTTCAGACCCGCAGGAGCCGGAGCCCGGCGTTGAAGGGGCCGTGGGAAGTAACGGGGGGTACCACGGTTTAGGATGCGCTGGAGCGAAAGGATTGGGGTGGGGTCCGTGCTCTTGGCAGTCGTCTCTGCCAGGCCTGTGTTCACATGCTTGACTTTCTCCCTCAGATGCCTGGAGTTAACTGTAAAAGACGTGAACCAGCAGGAGTTCGTCAGAGCTCTGGCAGCCTTCCTCAAAAAGTGAGTTTGGGGACTGAGGTTCAAAACGGGTGGAGGCTGTCGCCTTGGCCTGCCCATCTGAGCCCCAGTGTTTGCCGGTCCCTGGCAGGCGAGGCTTGTTTGGGGCCTCCGTGGCTCCTTTCAGCGTGAGGCCTGGCTTGTGTTCCGGTTCCAGCCTCTCTTTGTACTCTGGGCACAGCATAGTTGTGTTGAGGGGAGGGCATTTGGGATATGGGGTAGTTTGTGGAGATGACTGAATCGTGCTTTTCCCACTGTTTTGGTCTTAGGTCCGGGAAGCTGAAAGTCCCCGAATGGGTGGATACCGTCAAGCTGGCCAAGCACAAAGAGCTTGCTCCCTACGATGAGAACTGGTTCTACACGCGAGCTGGTGAGGAACTTAGGTCTTTGGCTGGAGAGTGGGGAGCTGGGTGACCCCTGGCACAAACCATACTTCCCTGTCTCCTCTGAGCTCTTTCCCGCCCCAAGAGGGAGAGAAACCCTTGGTTGTGTCACCACTTGCTTTGTGTGATGTGACATTCGATAACTTGGTACTCCAAGTTTTTATGACATTCTAAGAGCTTTGTGAGAGGAGGACCTGTGGCTTTGAGCCTCAGGGGAAACCAGAGACAGATGAATGTTCATATTTTGCTTACAGGTGGTTTAATCCTTTCTATATACACGGAGGCAGACTCCCTGGGTTTGGATCCATCTTTTACATCTGGCTGTGTGTCCTCTGGCAAGTTGGTTAACCTGCCTGTGCACTCTCTCATCCCCAAAATGGGACTAATTATTGTACCAGTACTAGAGTATTGCAAGGATTGAATGAATTTAAAGCAGAGTGTTTAGAACGTGTCTGTTGCACAGTAGTTATTCAGGAAAAAGCCAGTTGTCTTTACTATTGCTCAGATCATCAAGTTAGCCTTCTCCATATCTCTAACAGGCTGTTTCTAACTAAATGGTTGGAGATCTGGCCAGGTCAGTCCCTGCTTTAAATCTTGACTTCTGATCTTATGGACACCCTGCAACCTCGTGCCAGCCCCGTCTCTTTTCAATCTTCCAATAATAATTTATGTACAGTCCCTGACTAGTGTTAGTTCTCACGTGTCTTAATATTTCAGTACTCACTAAATCTTCACTTTCAGGAAGATGTAACAGGGTGGGCGGTGGCAGTGCCGTGTTATGTCAAGGTGACAGCCTTAGCACCGACCTTCACTAAGGGGCCTCGGCCTCTCCAATCTTAAACCTTCTCTCTCTGTGAAGTGGGGACTCCATCCTGACCACAACTTGTCTCCAGATAAGAAGTAGGTGGGAAGCAGGGTTTGGAAATCGGCAAAACTCCTCCATGACCCGGAAAAGAGTTGGCCTTGGTACAGGTTGCTTGGCCCTTCAGAATATGAAGCATTTTGTAGATTTGTGGTACACTTGTGCCTCAAATGTCTATTGGGGCCCACTCTTTCAGGCCATGGAGTGAGCACAGAGGACCAGCATAACTCAGCCGCGGCCTCTGAGGACTGAAAGATGAACTTGCTGAGGTGGGTCGGGTTGCTGGCATACCACCTACCCACCGTTTGTTTTAGACAGAAAATGGGGCGGATGAAGAGAAGCTGACTTCCCTGGGCGCACAGCAGTGACAAGCCCTGGAAGTTACATATCTCCTCCACCTGTCCCCCCATCTTGCTTTGGCAGTGCCTCAAGGGTCAGTTGGTCAGAGCAGCTTTGGATCTGGGATTAGCCTTTCTCATTTGCTGGGGTGAAGACACGTTCTGCACATACCAAATACCTCCAAAGTAGGACTGTATGTGTCTTGTACATTTTTTTTTTTTTTTTTAACATGGGGAGGGATTAACAAGAGATGGCATTAAGACCTTGGATAATAAACCTAGTTGCATCTGCTGGTCATGGTAGAGCTGCTGTGGTCCCTTGCAGCCCACAGTGGCCCTGCCTGGAAACCTCAAGCAGGATGTGCATCTTCTGCCTGCCTACTGATCTCCATCACTTGGAGTACCCC
|
pathogenic
| 305,491 |
Gene RPS19 (ribosomal protein S19) variant at chromosome 19, position 41869192—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Diamond-Blackfan_anemia']
|
TCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCTCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCCCATATATTTTAAATCATCTGTAGATTACTTATAGATTAATACAGGCCAGACATGGCACATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGCGGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCACCTGCCTCGGCCTTCCAGAGTGCTGGGATTAAAGGTGTGAGCCACTGTGCCTGGCCACTCCCTTGAGACTCAGTTTCCACGTCTGTGAAATGGGGGAATACCCACAGTGAGAATTAGATGAGATAGATGCATT
|
TCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCTCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCCCATATATTTTAAATCATCTGTAGATTACTTATAGATTAATACAGGCCAGACATGGCACATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGCGGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCACCTGCCTCGGCCTTCCAGAGTGCTGGGATTAAAGGTGTGAGCCACTGTGCCTGGCCACTCCCTTGAGACTCAGTTTCCACGTCTGTGAAATGGGGGAATACCCACAGTGAGAATTAGATGAGATAGATGCATTNNN
|
pathogenic
| 305,504 |
Assess the variant on chromosome 19, position 41869225, impacting RPS19 (ribosomal protein S19): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
benign
|
CCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCTCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCCCATATATTTTAAATCATCTGTAGATTACTTATAGATTAATACAGGCCAGACATGGCACATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGCGGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCACCTGCCTCGGCCTTCCAGAGTGCTGGGATTAAAGGTGTGAGCCACTGTGCCTGGCCACTCCCTTGAGACTCAGTTTCCACGTCTGTGAAATGGGGGAATACCCACAGTGAGAATTAGATGAGATAGATGCATTTGAAACCACAAATCGGGGTGCCCACCTGTGGTG
|
CCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCTCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCCCATATATTTTAAATCATCTGTAGATTACTTATAGATTAATACAGGCCAGACATGGCACATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGCGGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCACCTGCCTCGGCCTTCCAGAGTGCTGGGATTAAAGGTGTGAGCCACTGTGCCTGGCCACTCCCTTGAGACTCAGTTTCCACGTCTGTGAAATGGGGGAATACCCACAGTGAGAATTAGATGAGATAGATGCATTTGAAACCACAAATCGGGGTGCCCACCTGTGGTGN
|
benign
| 305,506 |
Does the chromosome 19 mutation at position 41869382 within gene RPS19 (ribosomal protein S19) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
benign
|
CACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCTCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCCCATATATTTTAAATCATCTGTAGATTACTTATAGATTAATACAGGCCAGACATGGCACATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGCGGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCACCTGCCTCGGCCTTCCAGAGTGCTGGGATTAAAGGTGTGAGCCACTGTGCCTGGCCACTCCCTTGAGACTCAGTTTCCACGTCTGTGAAATGGGGGAATACCCACAGTGAGAATTAGATGAGATAGATGCATTTGAAACCACAAATCGGGGTGCCCACCTGTGGTGGGTAGTTAGGTAGCTGTTACAAAGTGCCCCAGCAGAGACCCCCTTGACTAACTTTTATTCTTCCATCTTTTCCCACAGGTGGCAGCTGCCAACAAGAAGCATTAGAACAAACCATGCTGGGTTAATAAATTGCCTCATTCGTAATCCTGGTCTGGGT
|
CACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCTCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCCCATATATTTTAAATCATCTGTAGATTACTTATAGATTAATACAGGCCAGACATGGCACATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGCGGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCACCTGCCTCGGCCTTCCAGAGTGCTGGGATTAAAGGTGTGAGCCACTGTGCCTGGCCACTCCCTTGAGACTCAGTTTCCACGTCTGTGAAATGGGGGAATACCCACAGTGAGAATTAGATGAGATAGATGCATTTGAAACCACAAATCGGGGTGCCCACCTGTGGTGGGTAGTTAGGTAGCTGTTACAAAGTGCCCCAGCAGAGACCCCCTTGACTAACTTTTATTCTTCCATCTTTTCCCACAGGTGGCAGCTGCCAACAAGAAGCATTAGAACAAACCATGCTGGGTTAATAAATTGCCTCATTCGTAATCCTGGTCTGGGTNN
|
benign
| 305,509 |
Is chromosome 19, position 41869724, gene RPS19 (ribosomal protein S19) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Diamond-Blackfan_anemia', 'Diamond-Blackfan_anemia_1']
|
ATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGCGGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCACCTGCCTCGGCCTTCCAGAGTGCTGGGATTAAAGGTGTGAGCCACTGTGCCTGGCCACTCCCTTGAGACTCAGTTTCCACGTCTGTGAAATGGGGGAATACCCACAGTGAGAATTAGATGAGATAGATGCATTTGAAACCACAAATCGGGGTGCCCACCTGTGGTGGGTAGTTAGGTAGCTGTTACAAAGTGCCCCAGCAGAGACCCCCTTGACTAACTTTTATTCTTCCATCTTTTCCCACAGGTGGCAGCTGCCAACAAGAAGCATTAGAACAAACCATGCTGGGTTAATAAATTGCCTCATTCGTAATCCTGGTCTGGGTCTCTTTTTTGAGTCTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAATCTCCGCCTTCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGTGCCTGGTCTGGTTTGGGTCTCTTGATTGTTCTTCAGGGGCATGAGGAAGAGGCGCTTCCTCCCTTCCCTTGGGTGAGGGGGCCCAGGGTGATTGGGTGGCTGTTTACCCGGCAGCCAGTCGGGCCTTCCCAGGTCAAACAGTTCCCATCTGGGTTTGGAGGAAGGACCCAGGGGCCCTTGTGGCTCACTCCCCCACAT
|
ATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGCGGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCACCTGCCTCGGCCTTCCAGAGTGCTGGGATTAAAGGTGTGAGCCACTGTGCCTGGCCACTCCCTTGAGACTCAGTTTCCACGTCTGTGAAATGGGGGAATACCCACAGTGAGAATTAGATGAGATAGATGCATTTGAAACCACAAATCGGGGTGCCCACCTGTGGTGGGTAGTTAGGTAGCTGTTACAAAGTGCCCCAGCAGAGACCCCCTTGACTAACTTTTATTCTTCCATCTTTTCCCACAGGTGGCAGCTGCCAACAAGAAGCATTAGAACAAACCATGCTGGGTTAATAAATTGCCTCATTCGTAATCCTGGTCTGGGTCTCTTTTTTGAGTCTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAATCTCCGCCTTCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGTGCCTGGTCTGGTTTGGGTCTCTTGATTGTTCTTCAGGGGCATGAGGAAGAGGCGCTTCCTCCCTTCCCTTGGGTGAGGGGGCCCAGGGTGATTGGGTGGCTGTTTACCCGGCAGCCAGTCGGGCCTTCCCAGGTCAAACAGTTCCCATCTGGGTTTGGAGGAAGGACCCAGGGGCCCTTGTGGCTCACTCCCCCACA
|
pathogenic
| 305,510 |
Chromosome 19, position 41869724, gene RPS19 (ribosomal protein S19): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Diamond-Blackfan_anemia']
|
ATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGCGGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCACCTGCCTCGGCCTTCCAGAGTGCTGGGATTAAAGGTGTGAGCCACTGTGCCTGGCCACTCCCTTGAGACTCAGTTTCCACGTCTGTGAAATGGGGGAATACCCACAGTGAGAATTAGATGAGATAGATGCATTTGAAACCACAAATCGGGGTGCCCACCTGTGGTGGGTAGTTAGGTAGCTGTTACAAAGTGCCCCAGCAGAGACCCCCTTGACTAACTTTTATTCTTCCATCTTTTCCCACAGGTGGCAGCTGCCAACAAGAAGCATTAGAACAAACCATGCTGGGTTAATAAATTGCCTCATTCGTAATCCTGGTCTGGGTCTCTTTTTTGAGTCTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAATCTCCGCCTTCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGTGCCTGGTCTGGTTTGGGTCTCTTGATTGTTCTTCAGGGGCATGAGGAAGAGGCGCTTCCTCCCTTCCCTTGGGTGAGGGGGCCCAGGGTGATTGGGTGGCTGTTTACCCGGCAGCCAGTCGGGCCTTCCCAGGTCAAACAGTTCCCATCTGGGTTTGGAGGAAGGACCCAGGGGCCCTTGTGGCTCACTCCCCCACAT
|
ATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGCGGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCACCTGCCTCGGCCTTCCAGAGTGCTGGGATTAAAGGTGTGAGCCACTGTGCCTGGCCACTCCCTTGAGACTCAGTTTCCACGTCTGTGAAATGGGGGAATACCCACAGTGAGAATTAGATGAGATAGATGCATTTGAAACCACAAATCGGGGTGCCCACCTGTGGTGGGTAGTTAGGTAGCTGTTACAAAGTGCCCCAGCAGAGACCCCCTTGACTAACTTTTATTCTTCCATCTTTTCCCACAGGTGGCAGCTGCCAACAAGAAGCATTAGAACAAACCATGCTGGGTTAATAAATTGCCTCATTCGTAATCCTGGTCTGGGTCTCTTTTTTGAGTCTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAATCTCCGCCTTCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGTGCCTGGTCTGGTTTGGGTCTCTTGATTGTTCTTCAGGGGCATGAGGAAGAGGCGCTTCCTCCCTTCCCTTGGGTGAGGGGGCCCAGGGTGATTGGGTGGCTGTTTACCCGGCAGCCAGTCGGGCCTTCCCAGGTCAAACAGTTCCCATCTGGGTTTGGAGGAAGGACCCAGGGGCCCTTGTGGCTCACTCCCCCACATNN
|
pathogenic
| 305,511 |
Chromosome 19, position 41968846, gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Developmental_and_epileptic_encephalopathy_99', 'Dystonia_12']
|
TAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGGGTGCCCGGAGAGATGGGAAGAGAGAGAAGAGTGGGAACCAGGTGGCAGAGCCATCCAGCAGGGCGAGGGGAGCCTGGGACCAGCTGCCTGAGACCCTGCTGCCCCCCGCCCCCCTCGGCTGCCTTGCCGAGCTCCCTCACCCCCTGGGTTCCTGCGCAGGATGAGTTTGCGGATTTCGTCGTAGACGAAGATGAGGAAACTGTAGGGGAAGGCACAGAACCACCAGCTGGGCCTGCAGAGGGGAGAGCAGGAGGGCTTGAGTGCGGGGCCCTAACGAGAGGCAGAGTTTCAGGGGACTGGAGGGGACGCAGAGGGGCAGTCTCCCAGGATCCTTCGTGCTCACAGGTGGAGGGTGCCCTGGGCGGGGCTGGGGCCTGGGGTCTTCGGAGTAATCCGTGGTGGGAGCAGCCTATGGGGGAGGCTCGGGGGCATCAGAATGGGGACTGCAGTGGGGACACCAGGGGAGGTGGGGCCTGAGGTTCAGGCTGAGTCTAAGGGAAGGCTCCATGGCAGGCGCTGGTGTGGGCAGGGCTGGGGGCAGCGGGGCACTCACTTGAGAGGGTACATGCGCAGGGCCACGTCCATGCCGGGGCAGTAGGACAGGAAGGCAGCCAGGGCCGTCTCCTCAAACAGCCCGAAGATCAGGATCTTGTTCCTGGAGGCACAGAAGGGCAGGGCTGGGCCCAGAGAGCACCCACCCTGCACCTGCCACCCCGCAGAGACAGGGGGAGGCACAGTGCAGACACCCAGAGACAGCAGCACAGACACAGAGACAGAGAGGCAGAGACATAGGGAGAGACAGAGATGGGGAGACATGCCCCGACAGAGAGAGACAAAGATAGAGGCAGAGCGATGGTGACACAGAAAGAGACAAAAGACAGGGACAGACACAGAGACAGGGACAGACACAGAGACAGACAGGGACAGACAGAGAGACAGACACAGGGACAGACACAGAGACAGGGACAGAAACAGACACAGAGACAGGGACAGACACAGAGAGGCACTGGTATAAAAAGAAAAGGCCAGGGGCACCTCCACCACACACACAGAGGCTGAGAGAGAATCTAGGACACACAGGACCCCTTGAGAGAAAATCAGTGCAGTGGCAAAACCCAAAATGGGCTGGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCAACAAAACAACAAAAAACCAAAGCAAGGACACAAGAGGAAGTACACAGACAGACAGACACTCGGACAGGACAGATGGCTGTCCAGTCACCATGTGCCCCCGGCCCTCACTTCATGCCCTGCTGGAAGACCGAGTTCCTCCGGGTCTTGCAGATGATCAGATCGGCCCACTGGACGACAACGATGCTCACAAAGAAGGCCGTGTGGCAGGTGAACTCCACCACCTTCCTCTGCTCGTATGTCTGCAGGAGCGGTGACCAGGGCACGGGACGTCAGTTAGTGGCACTGCAGCCCTAGCCGCCACCCCGACGTTCCGGTGCTCTTTGCCCCGCCCCATCCTGCATGGGGTCCTCAGGGCCTCAGGTGTGTCTTCCTTCTGCGGGCTCATAGTCCCGAGGGAGGAGTCAGGAGACGTACAAGGAAGAAGAAAGGTTAATGGTGATCTCACCATCCACCAGGGGCCAGGGAGGAGGATAAGGACCCTGTGGGCCTCCCAAGGAGGACAGACAGCAACTGGGCTTTGAAGGGACAGACAGAGGTGGGGAAGAAGGCCTGGCAGGGCAGAGAGCTCCAGCAGTGGGACACAAGGCTCCAGATGGGCTGGGCCAAGGGCATCCAGGAAGCCCCAGGTGCCCAGCAAAGGCCTTGATGCTGCCATGGGAGACTGAGGGGGCCATCGTAGGAAGTGGCCATGCATGGCTGGAACAGCTCACCCCGGGGATCTTACGGTGGGCAGAGACACAGCACCCTGCCCTACTCACCCACTGCTGCCCGTAACTGTCTTCCAGGTCATTGACGGTGCGGTCATCCCAGTTCAGCCGGATGCCCACCAGGTTGCCGGGCAAGAAGCCATTTTCTGCCAGGATCACAAAGTAAGAGAAGAAGCCACCGAGAGCCTGGATCATTCCTGGAAGGAGGAGAGAGGAAGCCGAGGAGAGGCTCAGATTGGGGCCAGCAGCCAACCCAGGGCACCTCAGAGGGCCCGGAGGCCTCCTTGGAGAGGGGAGTATGCCCTCCTGGCCCTGTTATCTGGACATTGGTTCCCAGAGGGTGACCTGAGGTCTCACTTGGTGGTGAGGCCCTGAGATGGGTGGGCCACCTGGGACAGGGGCTTTGGAGAGAGGGCTCTCCCAGAGGGATAACCTGGAGCCCCTCTCTCACCTGACCTAGGCCACCTAAACATCATGAATTCTTGGGGGATCCCCAGCTTGAGCTCCCTACGCAGGAATGACCTCCCTGGGCCTGGAACCACTGCCATGAAGTCTCTGCTTGCTGGGACAGCCCCCAAGGGTGGCTGCTCCACTCCTCTGGGGATCCGCACACATCAACAGCAGAGAGGAGGAGGTGGAGAAGGATGGGGTGCAGACCCCCCCCACAGATAGCTCACTGGTTGGTCCTGCCCACGTCTGCTCCCCTGAGTCAATGCCAGGGTCCCAAGCACCCACGGTGGGCCAGGCACTGCTCTAGGCCCGGCACTGGGTGGTAAGGAGATGGAGTCCCCGGTGCCTCACCAATCTGCCCGTAGGCCATGCTGATGAGTCTCTCATTGACCAATTTGTCCGTCCGCGGGTTCCTGGGCTGTCTCTTCATGATGTCGCTTTCGGCAGCCTCGTACGCCAGTGAGATGGCAGGGACCTAGGCGGAGGAGGCCGGGTGAGCCGGAGAGGGGAGGACTCCACCCTCCTGGGCCCCAAGGGTGGCTGCCAGGGCTCACCATGTCAGTGCCCAGATCGATGCAGAGGATGGTGATGGTGCCCAGGGGCAGCGGGATGTTGGCCATGATGAACAGCAGGAAGGGCGTGATCTCCGGGATATTGCTGGTCAGGGTGTAGGCAATGGACTTCTTTAGGTTGTCGAAGATCAGGCGGCCTGTGGCACAGGCAGGCTCAGAGCAGGCGCCCATGCCAGGGAGCCCCACTCCCTCTGCCCCTCCTCTGCCCTCATCCAACGTCCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAGGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGCACTACAGGCACCTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTATTAGAGACGGGGTTTCACTGTGTTAGCCTGCATGGTCTCAATCTCCTGACCTCGTGATCTGCCCTCCTCGGCCTCCTGA
|
TAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGGGTGCCCGGAGAGATGGGAAGAGAGAGAAGAGTGGGAACCAGGTGGCAGAGCCATCCAGCAGGGCGAGGGGAGCCTGGGACCAGCTGCCTGAGACCCTGCTGCCCCCCGCCCCCCTCGGCTGCCTTGCCGAGCTCCCTCACCCCCTGGGTTCCTGCGCAGGATGAGTTTGCGGATTTCGTCGTAGACGAAGATGAGGAAACTGTAGGGGAAGGCACAGAACCACCAGCTGGGCCTGCAGAGGGGAGAGCAGGAGGGCTTGAGTGCGGGGCCCTAACGAGAGGCAGAGTTTCAGGGGACTGGAGGGGACGCAGAGGGGCAGTCTCCCAGGATCCTTCGTGCTCACAGGTGGAGGGTGCCCTGGGCGGGGCTGGGGCCTGGGGTCTTCGGAGTAATCCGTGGTGGGAGCAGCCTATGGGGGAGGCTCGGGGGCATCAGAATGGGGACTGCAGTGGGGACACCAGGGGAGGTGGGGCCTGAGGTTCAGGCTGAGTCTAAGGGAAGGCTCCATGGCAGGCGCTGGTGTGGGCAGGGCTGGGGGCAGCGGGGCACTCACTTGAGAGGGTACATGCGCAGGGCCACGTCCATGCCGGGGCAGTAGGACAGGAAGGCAGCCAGGGCCGTCTCCTCAAACAGCCCGAAGATCAGGATCTTGTTCCTGGAGGCACAGAAGGGCAGGGCTGGGCCCAGAGAGCACCCACCCTGCACCTGCCACCCCGCAGAGACAGGGGGAGGCACAGTGCAGACACCCAGAGACAGCAGCACAGACACAGAGACAGAGAGGCAGAGACATAGGGAGAGACAGAGATGGGGAGACATGCCCCGACAGAGAGAGACAAAGATAGAGGCAGAGCGATGGTGACACAGAAAGAGACAAAAGACAGGGACAGACACAGAGACAGGGACAGACACAGAGACAGACAGGGACAGACAGAGAGACAGACACAGGGACAGACACAGAGACAGGGACAGAAACAGACACAGAGACAGGGACAGACACAGAGAGGCACTGGTATAAAAAGAAAAGGCCAGGGGCACCTCCACCACACACACAGAGGCTGAGAGAGAATCTAGGACACACAGGACCCCTTGAGAGAAAATCAGTGCAGTGGCAAAACCCAAAATGGGCTGGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCAACAAAACAACAAAAAACCAAAGCAAGGACACAAGAGGAAGTACACAGACAGACAGACACTCGGACAGGACAGATGGCTGTCCAGTCACCATGTGCCCCCGGCCCTCACTTCATGCCCTGCTGGAAGACCGAGTTCCTCCGGGTCTTGCAGATGATCAGATCGGCCCACTGGACAACGATGCTCACAAAGAAGGCCGTGTGGCAGGTGAACTCCACCACCTTCCTCTGCTCGTATGTCTGCAGGAGCGGTGACCAGGGCACGGGACGTCAGTTAGTGGCACTGCAGCCCTAGCCGCCACCCCGACGTTCCGGTGCTCTTTGCCCCGCCCCATCCTGCATGGGGTCCTCAGGGCCTCAGGTGTGTCTTCCTTCTGCGGGCTCATAGTCCCGAGGGAGGAGTCAGGAGACGTACAAGGAAGAAGAAAGGTTAATGGTGATCTCACCATCCACCAGGGGCCAGGGAGGAGGATAAGGACCCTGTGGGCCTCCCAAGGAGGACAGACAGCAACTGGGCTTTGAAGGGACAGACAGAGGTGGGGAAGAAGGCCTGGCAGGGCAGAGAGCTCCAGCAGTGGGACACAAGGCTCCAGATGGGCTGGGCCAAGGGCATCCAGGAAGCCCCAGGTGCCCAGCAAAGGCCTTGATGCTGCCATGGGAGACTGAGGGGGCCATCGTAGGAAGTGGCCATGCATGGCTGGAACAGCTCACCCCGGGGATCTTACGGTGGGCAGAGACACAGCACCCTGCCCTACTCACCCACTGCTGCCCGTAACTGTCTTCCAGGTCATTGACGGTGCGGTCATCCCAGTTCAGCCGGATGCCCACCAGGTTGCCGGGCAAGAAGCCATTTTCTGCCAGGATCACAAAGTAAGAGAAGAAGCCACCGAGAGCCTGGATCATTCCTGGAAGGAGGAGAGAGGAAGCCGAGGAGAGGCTCAGATTGGGGCCAGCAGCCAACCCAGGGCACCTCAGAGGGCCCGGAGGCCTCCTTGGAGAGGGGAGTATGCCCTCCTGGCCCTGTTATCTGGACATTGGTTCCCAGAGGGTGACCTGAGGTCTCACTTGGTGGTGAGGCCCTGAGATGGGTGGGCCACCTGGGACAGGGGCTTTGGAGAGAGGGCTCTCCCAGAGGGATAACCTGGAGCCCCTCTCTCACCTGACCTAGGCCACCTAAACATCATGAATTCTTGGGGGATCCCCAGCTTGAGCTCCCTACGCAGGAATGACCTCCCTGGGCCTGGAACCACTGCCATGAAGTCTCTGCTTGCTGGGACAGCCCCCAAGGGTGGCTGCTCCACTCCTCTGGGGATCCGCACACATCAACAGCAGAGAGGAGGAGGTGGAGAAGGATGGGGTGCAGACCCCCCCCACAGATAGCTCACTGGTTGGTCCTGCCCACGTCTGCTCCCCTGAGTCAATGCCAGGGTCCCAAGCACCCACGGTGGGCCAGGCACTGCTCTAGGCCCGGCACTGGGTGGTAAGGAGATGGAGTCCCCGGTGCCTCACCAATCTGCCCGTAGGCCATGCTGATGAGTCTCTCATTGACCAATTTGTCCGTCCGCGGGTTCCTGGGCTGTCTCTTCATGATGTCGCTTTCGGCAGCCTCGTACGCCAGTGAGATGGCAGGGACCTAGGCGGAGGAGGCCGGGTGAGCCGGAGAGGGGAGGACTCCACCCTCCTGGGCCCCAAGGGTGGCTGCCAGGGCTCACCATGTCAGTGCCCAGATCGATGCAGAGGATGGTGATGGTGCCCAGGGGCAGCGGGATGTTGGCCATGATGAACAGCAGGAAGGGCGTGATCTCCGGGATATTGCTGGTCAGGGTGTAGGCAATGGACTTCTTTAGGTTGTCGAAGATCAGGCGGCCTGTGGCACAGGCAGGCTCAGAGCAGGCGCCCATGCCAGGGAGCCCCACTCCCTCTGCCCCTCCTCTGCCCTCATCCAACGTCCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAGGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGCACTACAGGCACCTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTATTAGAGACGGGGTTTCACTGTGTTAGCCTGCATGGTCTCAATCTCCTGACCTCGTGATCTGCCCTCCTCGGCCTCCTGANNN
|
pathogenic
| 305,571 |
Clinical significance of chromosome 19, position 41969417, gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3): benign or pathogenic? Name the disease(s) if pathogenic.
|
benign
|
GTGCGGGGCCCTAACGAGAGGCAGAGTTTCAGGGGACTGGAGGGGACGCAGAGGGGCAGTCTCCCAGGATCCTTCGTGCTCACAGGTGGAGGGTGCCCTGGGCGGGGCTGGGGCCTGGGGTCTTCGGAGTAATCCGTGGTGGGAGCAGCCTATGGGGGAGGCTCGGGGGCATCAGAATGGGGACTGCAGTGGGGACACCAGGGGAGGTGGGGCCTGAGGTTCAGGCTGAGTCTAAGGGAAGGCTCCATGGCAGGCGCTGGTGTGGGCAGGGCTGGGGGCAGCGGGGCACTCACTTGAGAGGGTACATGCGCAGGGCCACGTCCATGCCGGGGCAGTAGGACAGGAAGGCAGCCAGGGCCGTCTCCTCAAACAGCCCGAAGATCAGGATCTTGTTCCTGGAGGCACAGAAGGGCAGGGCTGGGCCCAGAGAGCACCCACCCTGCACCTGCCACCCCGCAGAGACAGGGGGAGGCACAGTGCAGACACCCAGAGACAGCAGCACAGACACAGAGACAGAGAGGCAGAGACATAGGGAGAGACAGAGATGGGGAGACATGCCCCGACAGAGAGAGACAAAGATAGAGGCAGAGCGATGGTGACACAGAAAGAGACAAAAGACAGGGACAGACACAGAGACAGGGACAGACACAGAGACAGACAGGGACAGACAGAGAGACAGACACAGGGACAGACACAGAGACAGGGACAGAAACAGACACAGAGACAGGGACAGACACAGAGAGGCACTGGTATAAAAAGAAAAGGCCAGGGGCACCTCCACCACACACACAGAGGCTGAGAGAGAATCTAGGACACACAGGACCCCTTGAGAGAAAATCAGTGCAGTGGCAAAACCCAAAATGGGCTGGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCAACAAAACAACAAAAAACCAAAGCAAGGACACAAGAGGAAGTACACAGACAGACAGACACTCGGACAGGACAGATGGCTGTCCAGTCACCATGTGCCCCCGGCCCTCACTTCATGCCCTGCTGGAAGACCGAGTTCCTCCGGGTCTTGCAGATGATCAGATCGGCCCACTGGACGACAACGATGCTCACAAAGAAGGCCGTGTGGCAGGTGAACTCCACCACCTTCCTCTGCTCGTATGTCTGCAGGAGCGGTGACCAGGGCACGGGACGTCAGTTAGTGGCACTGCAGCCCTAGCCGCCACCCCGACGTTCCGGTGCTCTTTGCCCCGCCCCATCCTGCATGGGGTCCTCAGGGCCTCAGGTGTGTCTTCCTTCTGCGGGCTCATAGTCCCGAGGGAGGAGTCAGGAGACGTACAAGGAAGAAGAAAGGTTAATGGTGATCTCACCATCCACCAGGGGCCAGGGAGGAGGATAAGGACCCTGTGGGCCTCCCAAGGAGGACAGACAGCAACTGGGCTTTGAAGGGACAGACAGAGGTGGGGAAGAAGGCCTGGCAGGGCAGAGAGCTCCAGCAGTGGGACACAAGGCTCCAGATGGGCTGGGCCAAGGGCATCCAGGAAGCCCCAGGTGCCCAGCAAAGGCCTTGATGCTGCCATGGGAGACTGAGGGGGCCATCGTAGGAAGTGGCCATGCATGGCTGGAACAGCTCACCCCGGGGATCTTACGGTGGGCAGAGACACAGCACCCTGCCCTACTCACCCACTGCTGCCCGTAACTGTCTTCCAGGTCATTGACGGTGCGGTCATCCCAGTTCAGCCGGATGCCCACCAGGTTGCCGGGCAAGAAGCCATTTTCTGCCAGGATCACAAAGTAAGAGAAGAAGCCACCGAGAGCCTGGATCATTCCTGGAAGGAGGAGAGAGGAAGCCGAGGAGAGGCTCAGATTGGGGCCAGCAGCCAACCCAGGGCACCTCAGAGGGCCCGGAGGCCTCCTTGGAGAGGGGAGTATGCCCTCCTGGCCCTGTTATCTGGACATTGGTTCCCAGAGGGTGACCTGAGGTCTCACTTGGTGGTGAGGCCCTGAGATGGGTGGGCCACCTGGGACAGGGGCTTTGGAGAGAGGGCTCTCCCAGAGGGATAACCTGGAGCCCCTCTCTCACCTGACCTAGGCCACCTAAACATCATGAATTCTTGGGGGATCCCCAGCTTGAGCTCCCTACGCAGGAATGACCTCCCTGGGCCTGGAACCACTGCCATGAAGTCTCTGCTTGCTGGGACAGCCCCCAAGGGTGGCTGCTCCACTCCTCTGGGGATCCGCACACATCAACAGCAGAGAGGAGGAGGTGGAGAAGGATGGGGTGCAGACCCCCCCCACAGATAGCTCACTGGTTGGTCCTGCCCACGTCTGCTCCCCTGAGTCAATGCCAGGGTCCCAAGCACCCACGGTGGGCCAGGCACTGCTCTAGGCCCGGCACTGGGTGGTAAGGAGATGGAGTCCCCGGTGCCTCACCAATCTGCCCGTAGGCCATGCTGATGAGTCTCTCATTGACCAATTTGTCCGTCCGCGGGTTCCTGGGCTGTCTCTTCATGATGTCGCTTTCGGCAGCCTCGTACGCCAGTGAGATGGCAGGGACCTAGGCGGAGGAGGCCGGGTGAGCCGGAGAGGGGAGGACTCCACCCTCCTGGGCCCCAAGGGTGGCTGCCAGGGCTCACCATGTCAGTGCCCAGATCGATGCAGAGGATGGTGATGGTGCCCAGGGGCAGCGGGATGTTGGCCATGATGAACAGCAGGAAGGGCGTGATCTCCGGGATATTGCTGGTCAGGGTGTAGGCAATGGACTTCTTTAGGTTGTCGAAGATCAGGCGGCCTGTGGCACAGGCAGGCTCAGAGCAGGCGCCCATGCCAGGGAGCCCCACTCCCTCTGCCCCTCCTCTGCCCTCATCCAACGTCCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAGGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGCACTACAGGCACCTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTATTAGAGACGGGGTTTCACTGTGTTAGCCTGCATGGTCTCAATCTCCTGACCTCGTGATCTGCCCTCCTCGGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTCCAGCGTCCTTTTCTACCCCCCAGCCCACCCACCATTATTTTCTTTTTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGCAGTGCAGTGGCATGATCACGGCTCACTGCAACCTCGACTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCATGTAGCTGAGACTACAGTCACGCGCCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTCTCACCACTTTTCCTAGGCTTGTCTAATTTCTGGGCTGTGATTCCATCTCAGCCTCCCGAAGTGCTGGGATTACAGGCATAAGTCTCCACACCTGGCCCCTCACCCACCTACCTTTCCACATAAACATCCAACCACATCGCCTTTGTGGAAACATTCTTGAAATAACCACTTTGGAAGATGGTTTCGGAGTTGCTATCAAACATCCCCCACCCCACCGACCGAGTAATCCGACTCCTAGGTTTTATACCCAAAAGAGAGGAGGACTGTTTATGCCCAGCGAAAAGCAAGTACGAGAATGTTCACCAT
|
GTGCGGGGCCCTAACGAGAGGCAGAGTTTCAGGGGACTGGAGGGGACGCAGAGGGGCAGTCTCCCAGGATCCTTCGTGCTCACAGGTGGAGGGTGCCCTGGGCGGGGCTGGGGCCTGGGGTCTTCGGAGTAATCCGTGGTGGGAGCAGCCTATGGGGGAGGCTCGGGGGCATCAGAATGGGGACTGCAGTGGGGACACCAGGGGAGGTGGGGCCTGAGGTTCAGGCTGAGTCTAAGGGAAGGCTCCATGGCAGGCGCTGGTGTGGGCAGGGCTGGGGGCAGCGGGGCACTCACTTGAGAGGGTACATGCGCAGGGCCACGTCCATGCCGGGGCAGTAGGACAGGAAGGCAGCCAGGGCCGTCTCCTCAAACAGCCCGAAGATCAGGATCTTGTTCCTGGAGGCACAGAAGGGCAGGGCTGGGCCCAGAGAGCACCCACCCTGCACCTGCCACCCCGCAGAGACAGGGGGAGGCACAGTGCAGACACCCAGAGACAGCAGCACAGACACAGAGACAGAGAGGCAGAGACATAGGGAGAGACAGAGATGGGGAGACATGCCCCGACAGAGAGAGACAAAGATAGAGGCAGAGCGATGGTGACACAGAAAGAGACAAAAGACAGGGACAGACACAGAGACAGGGACAGACACAGAGACAGACAGGGACAGACAGAGAGACAGACACAGGGACAGACACAGAGACAGGGACAGAAACAGACACAGAGACAGGGACAGACACAGAGAGGCACTGGTATAAAAAGAAAAGGCCAGGGGCACCTCCACCACACACACAGAGGCTGAGAGAGAATCTAGGACACACAGGACCCCTTGAGAGAAAATCAGTGCAGTGGCAAAACCCAAAATGGGCTGGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCAACAAAACAACAAAAAACCAAAGCAAGGACACAAGAGGAAGTACACAGACAGACAGACACTCGGACAGGACAGATGGCTGTCCAGTCACCATGTGCCCCCGGCCCTCACTTCATGCCCTGCTGGAAGACCGAGTTCCTCCGGGTCTTGCAGATGATCAGATCGGCCCACTGGACGACAACGATGCTCACAAAGAAGGCCGTGTGGCAGGTGAACTCCACCACCTTCCTCTGCTCGTATGTCTGCAGGAGCGGTGACCAGGGCACGGGACGTCAGTTAGTGGCACTGCAGCCCTAGCCGCCACCCCGACGTTCCGGTGCTCTTTGCCCCGCCCCATCCTGCATGGGGTCCTCAGGGCCTCAGGTGTGTCTTCCTTCTGCGGGCTCATAGTCCCGAGGGAGGAGTCAGGAGACGTACAAGGAAGAAGAAAGGTTAATGGTGATCTCACCATCCACCAGGGGCCAGGGAGGAGGATAAGGACCCTGTGGGCCTCCCAAGGAGGACAGACAGCAACTGGGCTTTGAAGGGACAGACAGAGGTGGGGAAGAAGGCCTGGCAGGGCAGAGAGCTCCAGCAGTGGGACACAAGGCTCCAGATGGGCTGGGCCAAGGGCATCCAGGAAGCCCCAGGTGCCCAGCAAAGGCCTTGATGCTGCCATGGGAGACTGAGGGGGCCATCGTAGGAAGTGGCCATGCATGGCTGGAACAGCTCACCCCGGGGATCTTACGGTGGGCAGAGACACAGACCCTGCCCTACTCACCCACTGCTGCCCGTAACTGTCTTCCAGGTCATTGACGGTGCGGTCATCCCAGTTCAGCCGGATGCCCACCAGGTTGCCGGGCAAGAAGCCATTTTCTGCCAGGATCACAAAGTAAGAGAAGAAGCCACCGAGAGCCTGGATCATTCCTGGAAGGAGGAGAGAGGAAGCCGAGGAGAGGCTCAGATTGGGGCCAGCAGCCAACCCAGGGCACCTCAGAGGGCCCGGAGGCCTCCTTGGAGAGGGGAGTATGCCCTCCTGGCCCTGTTATCTGGACATTGGTTCCCAGAGGGTGACCTGAGGTCTCACTTGGTGGTGAGGCCCTGAGATGGGTGGGCCACCTGGGACAGGGGCTTTGGAGAGAGGGCTCTCCCAGAGGGATAACCTGGAGCCCCTCTCTCACCTGACCTAGGCCACCTAAACATCATGAATTCTTGGGGGATCCCCAGCTTGAGCTCCCTACGCAGGAATGACCTCCCTGGGCCTGGAACCACTGCCATGAAGTCTCTGCTTGCTGGGACAGCCCCCAAGGGTGGCTGCTCCACTCCTCTGGGGATCCGCACACATCAACAGCAGAGAGGAGGAGGTGGAGAAGGATGGGGTGCAGACCCCCCCCACAGATAGCTCACTGGTTGGTCCTGCCCACGTCTGCTCCCCTGAGTCAATGCCAGGGTCCCAAGCACCCACGGTGGGCCAGGCACTGCTCTAGGCCCGGCACTGGGTGGTAAGGAGATGGAGTCCCCGGTGCCTCACCAATCTGCCCGTAGGCCATGCTGATGAGTCTCTCATTGACCAATTTGTCCGTCCGCGGGTTCCTGGGCTGTCTCTTCATGATGTCGCTTTCGGCAGCCTCGTACGCCAGTGAGATGGCAGGGACCTAGGCGGAGGAGGCCGGGTGAGCCGGAGAGGGGAGGACTCCACCCTCCTGGGCCCCAAGGGTGGCTGCCAGGGCTCACCATGTCAGTGCCCAGATCGATGCAGAGGATGGTGATGGTGCCCAGGGGCAGCGGGATGTTGGCCATGATGAACAGCAGGAAGGGCGTGATCTCCGGGATATTGCTGGTCAGGGTGTAGGCAATGGACTTCTTTAGGTTGTCGAAGATCAGGCGGCCTGTGGCACAGGCAGGCTCAGAGCAGGCGCCCATGCCAGGGAGCCCCACTCCCTCTGCCCCTCCTCTGCCCTCATCCAACGTCCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAGGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGCACTACAGGCACCTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTATTAGAGACGGGGTTTCACTGTGTTAGCCTGCATGGTCTCAATCTCCTGACCTCGTGATCTGCCCTCCTCGGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTCCAGCGTCCTTTTCTACCCCCCAGCCCACCCACCATTATTTTCTTTTTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGCAGTGCAGTGGCATGATCACGGCTCACTGCAACCTCGACTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCATGTAGCTGAGACTACAGTCACGCGCCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTCTCACCACTTTTCCTAGGCTTGTCTAATTTCTGGGCTGTGATTCCATCTCAGCCTCCCGAAGTGCTGGGATTACAGGCATAAGTCTCCACACCTGGCCCCTCACCCACCTACCTTTCCACATAAACATCCAACCACATCGCCTTTGTGGAAACATTCTTGAAATAACCACTTTGGAAGATGGTTTCGGAGTTGCTATCAAACATCCCCCACCCCACCGACCGAGTAATCCGACTCCTAGGTTTTATACCCAAAAGAGAGGAGGACTGTTTATGCCCAGCGAAAAGCAAGTACGAGAATGTTCACCATN
|
benign
| 305,575 |
Clinical classification of chromosome 19, position 41975801, gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3): benign or pathogenic? Disease(s) if pathogenic?
|
benign
|
TGCTCACAGCTGCCTCCCAGGCTTCCAGCATGATGCACAAGATTCGGAAGGAGCAGACGGCTGTATCTGAGACAGTGTGTGTACTGTGTATGCATAGATGTCTTGGGGAGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCAAATTGGGAGGCCAAGGTGGGAGGATTGCTTGAGCCCAGGAGTTGAAGACCTCGCTGGGCGAGGTGGCTCACCCCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGCGGGGATCACTTCAGGTCAGGAGATCAAGACCAGCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCTGGTGTGGTGGCATGCACCTGTAATTCTAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGCTACAGTAAGCCGAGATTGCATGCCTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAGAAAGACTAGTCTGGGCAACATGGCGAAACCCCATCTCTACAAAATCTTAAAAATCAGCCAGGTGTGATGGTGCATACCTGTAGTCTCAGCTACTTAGGGGCCTGAGGCAGGAGGATCGATTAAGTCCCGGAGGTGGAGGCTGCAGTTAGCCGTGATTGTGCCACTGCACTCCATCCTGGGTGACAGATTGAGACTCTATCCCCGCCCCCAGCCCCCAAAAAAAGATGTCTCTTGGGAGATAAGAAGGTGTTAACCATGGTTTCCTCTGGGATATAGGAGACAAGGGCTGAGGACATTTAATCTGTTACTCTGGGCTCGGCTTTGCCGTTTGAATTCTCTTTTACCATGAACTACTTTTTACACCAGAGACATTTCAAATAGGAGAGAGAAATTGGAAGAAAATCCACCAAGGCATGAACCGTGATTATTTCTGGATGGCGAGGTTACGGGTGATTCTACTTTTTTCCTGAATGCTTTTCTGCATTTGTCTATGATTATCATGAATTAATTTGATGATCAAAATAAATCTGAATGTGAACCAACCCTTCTGTGGCCTTGTCTGGGCCTGTCAGGAGGTGGTGCCTGTCGGCTCAGCAGCACCAGCCTCAGACCCAGCCCCTCACACCGCCTTGCCTGTGTACCGGTTCCTCTGCCTGCGACTCCCTGGCACTAGTCTATGTGGACGTCACAGCATGGCCCCTGACTTGGCTCAGCCATCCCTGTCCACTCTGGGAAGCTCCCTTGACCCCCAGCCCAGGCTGGCAGAGGGGGTATCCCCCAGGGTCCCTGGCTTCCCCCTGGTTGGGCTTGAGAATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCAACCGCCACAATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTTCTGACCTCATGATCTGCCTGCTTCAGCCTTCCAAAGTGCTGGGATTACAGGCGTGGCTGCCGCCCCTGGCTGAGAATATCTTTAAAAAGCCTCCAAGTCAGCTTCACCCACCAGATGGGGCCTGGGCTGGATGACGCAGGGACCCTGAAGTGTGTCAGCTCAGTCCTGCCCAGGGGAGCTCCCGACCCCACAGGGGAGGAAGACAGAAAAGGACAGGCTCAGGCTCCTCCAGGGCCAGGGGGCCTGTGGTCTCTGCCACACATCCCCCTGCAGCCCTGGCCAGTTCCCCTTGCTGGTCTCAGGCCTCCGGTAGTGACCCTGGTCTCCAGGGCCACCCCTGGCCAACTCACCCTCCTCCACCCCTGTGACGATGGAGGCAAAGTTGTCGTCCAGCAGGATCATGTCAGCTGCCTGCTTGGAGACGTCAGAGCCAGCGATGCCCATGGCCACCCCAATGTCGGCCTTCTTCAGAGCGGGGGAGTCGTTCACACCATCCCCGGTCACAGCCACAATTGCACCCTGGAGGGAGAGAGGGTAAGGATGACACCCAGAGGCCAGTCCCCAGAGTCCCCTCCCTCAGATCCAGAAGCCCAGGACCCCAGCCCCCTCCTCCTTCAGACCTAGAAGTTCAGGTCCCCAACCTCCTCTTCCCCTCAGACCTAGGAGTTCAGGCCTCCAGACCTTCCTCCCTCAGACCCAGGGGTCCAGACCCCCAGACCCTCCTCCCTCAGACCCAGAGGTCCAGGCCCCCAGCCTCCTTCTCCCTCAGACTCAGCAGTCCAGGCCCCCAGACCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAAGGGTCCAGGCCCCCACCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCTATCCCCTCTTCCCTCATACCCAGAAGTCCAGGCCCCCTCCCTCAGACCCAAGGGTCCAGGTCCCCAGCCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGACCCTCCTCTCTCAGACCCAGGGGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAAACCAGGCCCCGGCCTCAGTGAGGACCCAGGAGTCAAGGCCCCGTCCCCTCCTCTGCGGGAGCGCAGCCCACCTGTCTCTGACAGCCCTCCACAATGATGAGCTTCTGCTGGGGGGATGTGCGGGCGAAGACGATCTCGGTGTGATTCTGCAGGATCTCGTCGATTTGCTCGGAGGTGAAGTCCTTGAGGTCGGTGCCGTGGATCACGCAGGCCTTGGCATCCCTGGGAAGAGCAGAGAGAGCGATGGCTGAGGTCAGGGTGTGTGAGGAGTGGCAAAGTGATCCCTGAAAGACAGAGAAACAGAGGGGCCAGCCCCACAACCAGGAGAGCCAGAGGACCAGGGGCTGGGGGAAGAGGCCTCTGGGAGAAGCAGGGGAGAAGGGGGCTACTGCAGCAGGGCGTGCGGGCAGACCTGAGGAAGGACTTTGGGGCAGTGGATTTATTTATTTATTTATTTATTATTTATTTATTTATTTTTGAGATGGAGTCTCGCTCTGTCACCCAAGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTTTGCTTCTTGGGTTCAAGTGATTTTCCTGTCTCAGCCTCCCTAGTAGATAGGATTACAGGTGCCCACCACCACGCCTGGCTAATTTTTTTTTAATTTTTAGTGCAGATGGGGTTTTGCCATGTTGGCCAGGCTGCTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCAAGACACAGTGGATTCAGAGGAACGGAGATAAATGGACAAGCTGAAGGAAGGCAGAGTCAGAGATAGGTATGAGGATGGGAAAGTTGAAGAAGTCAGAAAAACAGAACAGAAAAGAGAGACAATGACAGACAGACAGGAAAAAAGAGAGACAGACACAGAAGTACTGGATTCTACTGAATCCTCTGAGATAGGAATTATTAGTAGCCCATTTTAGAGATGGGCAAACTGAAGTTCATGGATGCTAAAGGACTTGCCCAATGTCACACAGCTTGTGAGCGGTATAAGCTGGAATGCAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGACCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAATTAGCGGGGCATGGTGGAGGGCCCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGATAATTGCTTGAACCCGGGAGGCGGAGGCTGCAGTGAGCTGAGGTTGCCCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAACATAAATAAATAAATAAAATAAAATAAAGGCTGGGATGCAAACCTATGCCTGGCTACCTCTGTGGCTGCAATGTCCCCACACCGGAGGGAGGGCCAGACCCAGGGCCTGGTCCATGGAGGAGTCCCAGAAAGAATGGGACAGGCA
|
TGCTCACAGCTGCCTCCCAGGCTTCCAGCATGATGCACAAGATTCGGAAGGAGCAGACGGCTGTATCTGAGACAGTGTGTGTACTGTGTATGCATAGATGTCTTGGGGAGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCAAATTGGGAGGCCAAGGTGGGAGGATTGCTTGAGCCCAGGAGTTGAAGACCTCGCTGGGCGAGGTGGCTCACCCCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGCGGGGATCACTTCAGGTCAGGAGATCAAGACCAGCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCTGGTGTGGTGGCATGCACCTGTAATTCTAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGCTACAGTAAGCCGAGATTGCATGCCTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAGAAAGACTAGTCTGGGCAACATGGCGAAACCCCATCTCTACAAAATCTTAAAAATCAGCCAGGTGTGATGGTGCATACCTGTAGTCTCAGCTACTTAGGGGCCTGAGGCAGGAGGATCGATTAAGTCCCGGAGGTGGAGGCTGCAGTTAGCCGTGATTGTGCCACTGCACTCCATCCTGGGTGACAGATTGAGACTCTATCCCCGCCCCCAGCCCCCAAAAAAAGATGTCTCTTGGGAGATAAGAAGGTGTTAACCATGGTTTCCTCTGGGATATAGGAGACAAGGGCTGAGGACATTTAATCTGTTACTCTGGGCTCGGCTTTGCCGTTTGAATTCTCTTTTACCATGAACTACTTTTTACACCAGAGACATTTCAAATAGGAGAGAGAAATTGGAAGAAAATCCACCAAGGCATGAACCGTGATTATTTCTGGATGGCGAGGTTACGGGTGATTCTACTTTTTTCCTGAATGCTTTTCTGCATTTGTCTATGATTATCATGAATTAATTTGATGATCAAAATAAATCTGAATGTGAACCAACCCTTCTGTGGCCTTGTCTGGGCCTGTCAGGAGGTGGTGCCTGTCGGCTCAGCAGCACCAGCCTCAGACCCAGCCCCTCACACCGCCTTGCCTGTGTACCGGTTCCTCTGCCTGCGACTCCCTGGCACTAGTCTATGTGGACGTCACAGCATGGCCCCTGACTTGGCTCAGCCATCCCTGTCCACTCTGGGAAGCTCCCTTGACCCCCAGCCCAGGCTGGCAGAGGGGGTATCCCCCAGGGTCCCTGGCTTCCCCCTGGTTGGGCTTGAGAATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCAACCGCCACAATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTTCTGACCTCATGATCTGCCTGCTTCAGCCTTCCAAAGTGCTGGGATTACAGGCGTGGCTGCCGCCCCTGGCTGAGAATATCTTTAAAAAGCCTCCAAGTCAGCTTCACCCACCAGATGGGGCCTGGGCTGGATGACGCAGGGACCCTGAAGTGTGTCAGCTCAGTCCTGCCCAGGGGAGCTCCCGACCCCACAGGGGAGGAAGACAGAAAAGGACAGGCTCAGGCTCCTCCAGGGCCAGGGGGCCTGTGGTCTCTGCCACACATCCCCCTGCAGCCCTGGCCAGTTCCCCTTGCTGGTCTCAGGCCTCCGGTAGTGACCCTGGTCTCCAGGGCCACCCCTGGCCAACTCACCCTCCTCCACCCCTGTGACGATGGAGGCAAAGTTGTCGTCCAGCAGGATCATGTCAGCTGCCTGCTTGGAGACGTCAGAGCCAGCGATGCCCATGGCCACCCCAATGTCGGCCTTCTTCAGAGCGGGGGAGTCGTTCACACCATCCCCGGTCACAGCCACAATTGCACCCTGGAGGGTGCAGGGTAAGGGAGAGAGGGTAAGGATGACACCCAGAGGCCAGTCCCCAGAGTCCCCTCCCTCAGATCCAGAAGCCCAGGACCCCAGCCCCCTCCTCCTTCAGACCTAGAAGTTCAGGTCCCCAACCTCCTCTTCCCCTCAGACCTAGGAGTTCAGGCCTCCAGACCTTCCTCCCTCAGACCCAGGGGTCCAGACCCCCAGACCCTCCTCCCTCAGACCCAGAGGTCCAGGCCCCCAGCCTCCTTCTCCCTCAGACTCAGCAGTCCAGGCCCCCAGACCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAAGGGTCCAGGCCCCCACCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCTATCCCCTCTTCCCTCATACCCAGAAGTCCAGGCCCCCTCCCTCAGACCCAAGGGTCCAGGTCCCCAGCCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGACCCTCCTCTCTCAGACCCAGGGGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAAACCAGGCCCCGGCCTCAGTGAGGACCCAGGAGTCAAGGCCCCGTCCCCTCCTCTGCGGGAGCGCAGCCCACCTGTCTCTGACAGCCCTCCACAATGATGAGCTTCTGCTGGGGGGATGTGCGGGCGAAGACGATCTCGGTGTGATTCTGCAGGATCTCGTCGATTTGCTCGGAGGTGAAGTCCTTGAGGTCGGTGCCGTGGATCACGCAGGCCTTGGCATCCCTGGGAAGAGCAGAGAGAGCGATGGCTGAGGTCAGGGTGTGTGAGGAGTGGCAAAGTGATCCCTGAAAGACAGAGAAACAGAGGGGCCAGCCCCACAACCAGGAGAGCCAGAGGACCAGGGGCTGGGGGAAGAGGCCTCTGGGAGAAGCAGGGGAGAAGGGGGCTACTGCAGCAGGGCGTGCGGGCAGACCTGAGGAAGGACTTTGGGGCAGTGGATTTATTTATTTATTTATTTATTATTTATTTATTTATTTTTGAGATGGAGTCTCGCTCTGTCACCCAAGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTTTGCTTCTTGGGTTCAAGTGATTTTCCTGTCTCAGCCTCCCTAGTAGATAGGATTACAGGTGCCCACCACCACGCCTGGCTAATTTTTTTTTAATTTTTAGTGCAGATGGGGTTTTGCCATGTTGGCCAGGCTGCTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCAAGACACAGTGGATTCAGAGGAACGGAGATAAATGGACAAGCTGAAGGAAGGCAGAGTCAGAGATAGGTATGAGGATGGGAAAGTTGAAGAAGTCAGAAAAACAGAACAGAAAAGAGAGACAATGACAGACAGACAGGAAAAAAGAGAGACAGACACAGAAGTACTGGATTCTACTGAATCCTCTGAGATAGGAATTATTAGTAGCCCATTTTAGAGATGGGCAAACTGAAGTTCATGGATGCTAAAGGACTTGCCCAATGTCACACAGCTTGTGAGCGGTATAAGCTGGAATGCAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGACCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAATTAGCGGGGCATGGTGGAGGGCCCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGATAATTGCTTGAACCCGGGAGGCGGAGGCTGCAGTGAGCTGAGGTTGCCCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAACATAAATAAATAAATAAAATAAAATAAAGGCTGGGATGCAAACCTATGCCTGGCTACCTCTGTGGCTGCAATGTCCCCACACCGGAGGGAGGGCCAGACCCAGGGCCTGGTCCATGGAGGAGTCCCAGAAAG
|
benign
| 305,614 |
The genetic variant at chromosome 19, position 42248909, affecting gene ERF (ETS2 repressor factor): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Chitayat_syndrome', 'Craniosynostosis_4', 'ERF-related_disorder', 'Neurodevelopmental_disorder', 'Noonan_Syndrome-like_developmental_disorder', 'TWIST1-related_craniosynostosis']
|
CACAGGGCCCTGGGCAAGTCACTTAGCAGCACTGGTTGCCCCTACCTTACTGGATACTGAAGGAGCTACAACACTGCAGCTCTTAAGTATTGGACACACAGTAGGTCAACAGCATCGATGACTAGTGAGCCAGTCCCTTGGCTGTGTGCTGGCTGGGGGTGTTCCCATACCTGGACCTGAAGATCACCAAGTTACCTTGCAAGGTCTACATTTCAAGAGACACCACAGGCTGTTCTCCAAAGGACTCCCAGCTGAACTCAGAGCAACAAGAGAGGGGTGTGGGCAGGGTGCGAGGGGCAGTGCAAAAGGGAGCTCCTGGTCTTCACTGGGGACCTGGGGTGTGGGAAGAATTCCTAGCCACAAGTGGGAAGGCATCCAGGCAATCAGAAGAGCAAGGGCAGTGGGGTTGTGGTGAAAAACAGTGGGAAGAGCTTTCAAGGACAAGGTCCCCATGGAACAGAGGAGCAGTCTGATGAAGCCGGCGCATGCCTGAGACCACTATCATCAAGCTCTGGGGCTCATGTGCCTCTGAGGTCAGGAGACGGTTTCCCAGGCCTGGATTTGGCCCATTCTGATTAGGGTTAGGCCCTCTATACTGATCTGGCCACAGACCCACTAGCAGCCAGGGTGGGGCCCCTCCTTCAGAATCAAGCAAAAGCTGTGGCCCTCAGGGGGCTGCACCGAGCACCTAGGACATTGATCACTGCATCCAAAGGTCCAAAGTTTTATTGTTTTGAATACATTCTCCAGCGGCCCCTCTACTCCCCCCACCCTCAGTCCCCAATACAGAATAAGGCTTGACCACAGCCCCCCACCCCACCCCAGAGGCCCCAGCTGGGAGGCAGAGGGGGCTTCCAGTTTGGTTTCAGGGCACCCCCTTCCCATCCCCCCACCCGCCTGCCCATGGGCCAGTCCTAGGAGCAGCTGGGGATGAAGGGGTTGGACCGGTGCTGGGGTGGGGAGTGGGAGAGGGATAGCAGGCACTTGTAGAGATTTGTGGCCCATGGGCGGCACCCCTCACCCTCCTCCGCCCCCCACCCCCCAACACATGGAATTTTTGGTTCATTATAAAATTGTCCCTCCCTCCCCTGCTGTGACCTTGTGGGGTATGAGAAACCTAGGCACTCATGGCCCCCTGGAGGGGCAGGGCAGGCAGGGCTGGGGCTGAGGAGGGCTGGGAGTGGGGCAGAGCGGGTGGGTCAGAGGGGTACAAGAGGCAGAGAACAGGGAGGGAGACAAGGCTTTACTTCCTAAGCGATTGTAATAGAAAAGTTCCTGGGTGTTAAGGCCAAAGCCTCAATTCAAATATAAATTCCCCAGAATGGAGGTGACCCCCTTAACTTCCCCCTCCCTCCCCCTACCACCACTTTGCCCAGAGCTTAGAAACCCACAGAGACAGGGAATAGCCCCTAGCCCTGGGCACCCACCCACCCCCACCATTTTTAAAAAAAAGAAATTAAAGTTTTATACAAAATGTGGGGAGGGAAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAGCCCCCAGCGGGGCCCCCACCCCCTTCGAGGCGACAGTCTTCACTCCAGCGCCGCTTAAAGCGTAGCTTGAGGGGCATGCACTGGGATGCCCCGGGTGCCTCGCCGGGCTCAGGCTTAGGGGGTGCAGGTGGGGCACGGGGCGTCTTGAACACCTCCCCGTCTTCCTCATCCTCATCACTGATGTCAGTCACCTCTACCTCCTCCGACTCGCCTTCCGAGATGGGCTCCACCTTGATCTGTGGTGGCGGGGGCGGTGGGGCTAGCGCCCCTGCCCCCTCAGCCAGCCCGCCTGCACTGCCACCGCTCTTGTCAGCACCGGCTACGGCCTTCTCCCCAGCTGCCCGCTGCCGGCGTCCGAGTGGGGGCGGCTGGAGCTTAAACTTGAATGGGGAGGAAGAAGAAGAAGAGGATGACGAGGCCGAGGAGGGGACCGGTGGGGTCTCGGGTGCCATGGGCGGCAGCGGGCACTTGTCAGGGCGCTGGGGCTGGGGCACCACCAGCCCAGGGTAGTGCAGGAAGGCGCGGGGGCTGAGGTGGTAGTTGTAGACGCTTTGGGTGTGGGCCTGCAGGTACCGTTTCATGTCCTCAGGGCTGAAGGAGAAGTGGGAGCCTCCCCCTGAGCCGCTGGGCCCCCCGCCACCACTGGGGTACATCGGGCTCAGCGTGGGCGAGGGAGTGTAGGCCAGGTGGGTGGGCGTCATGGGCAGAGCCGGGGAGAGCTGAGGGGGCAGCAGGGATCCAGGACCGGCCAGAGGCGACACAGGGAAGGGGCTGAGGGGTTCAGGGCCACCCCGAGGCCGGGGATAGACTCGGAAGACACCAGGGTCATGGGGCAGGCGGGCCAGCGGGGGCCCTCGGAAGGCACCCAGATCCGGAGGGCCGGGTGGTCGGGCGCGGGGATCCTCTCCCAGCGGTTCCTCCAGCTCTGACGTGCCATCACTACAGTCACTGACTGAGCCTCGGCCCAGGCGGCGGGCCACCACAGCCGAGAAGAGGGAAGATGAAGATGAAGAGCAGGCTGGTGGTGAGCGGGGGTCCTCGGTGGGGGACAGCACCTCGGAGGGCGTTGAGGGAGGGAAGCGGAAGTGGCTACCACCCGACGGCACTGGCGGGGCACTCTGGGGCACTGCACCCCCTGGCAGAAGGGAGACAGTGTCAAGGCCCCTGGCCTAGCCTGAAGGGGCATGTAGACCCTCTCCACACCAACCATCCCTGGTACTCACCAGCCAACCCCACATCAATGAATGGGTAATTGACCAGCACCAGTTTGTTGAAATTGAACTTGTAGGTGAACCGTTTCCCCTTGGTCTTGTGCAGAATGCGCTTGTTATAGTAATAGCTGTGGGTACAGAAATGCCATTGGGAAGGTCAGGTACGTGGGACCCAGGTCTAGACTCCACACCTTAACACGCACTTAGGTGTGGTTCCCAAAGGCCAACTGAGGAACGTAGGCCACAAAAGACAAATCAAGTGCCCAGAGGGTGGGTACCAGCTCTCTCCTCACATCTAAGGCAGGACTAGAGGATCCACTGGTGACTGTAATCTCTCCTCAGGATACGTCTGTGTTACCAAGGGGCTCAGGGAAGGGCTGGGAGTGGCCCAAGGTCACACAGCTAGGATTTGGCAAAGCCAGGGGTCAGACCCAATGCTTGTTCCCACAGGCAAGGGGCTGTGCAACCCCGGGGGGGCACTCCACATGTGCTCAGGGGTCCCCAGCCCGTCCTCACCGCAGGGCCCGGCTCAGCTTGTCGTAATTCATCTGGGGCTTGCACTTGCGAACGCCCCACAGCCGGGCCACCTCATCAGGGTCTTTGATGACGAATTCCCCGTAGTCCCCCTGCCAGGCAATGACGCCCTGGTACTCCTCCTTCCGCAGCAGCTCCAGGATAAAGTGCCACAGCTGGATCTGCCTTGAGCCAGGGGACGACTCTGGCTTGTAGGCCCAATCCGGGAAGGCAAACCCTGGGGACGGGAGGCAGGGAGTGGCCTGGGGTCAGGCTGCCAAGTCCAGGGCTCTGGGTCCCATCCCAGGGTCCACCTCTGCCCTGCCTTCAACATGGGGAAATCTGTCTCACCTCAGCCAAGTCAAGATCTGATTTAAGAGAAGACAGTGCGTGTCTGTCTGTCTGCATGTGAGGGGCTAGACAGGAGCTGGGGGGGAGGGGAAGCTGGAGCCCGCTCCAGCGACACCGGGAGAAACAGGAAACCGTCGGCGGTGGGTCCCGGGGCCAGTGCCAGGGGGCCAGGCACCAAGCCAGGCTGGCGGGCAGGGCTGCCAGTGGGGGAGGGGCAGGAAGGGGCACACGTGGCCAGCCGGGTTGGGGTACAGCCCCCCAGCTTACCCCCACTCCCA
|
CACAGGGCCCTGGGCAAGTCACTTAGCAGCACTGGTTGCCCCTACCTTACTGGATACTGAAGGAGCTACAACACTGCAGCTCTTAAGTATTGGACACACAGTAGGTCAACAGCATCGATGACTAGTGAGCCAGTCCCTTGGCTGTGTGCTGGCTGGGGGTGTTCCCATACCTGGACCTGAAGATCACCAAGTTACCTTGCAAGGTCTACATTTCAAGAGACACCACAGGCTGTTCTCCAAAGGACTCCCAGCTGAACTCAGAGCAACAAGAGAGGGGTGTGGGCAGGGTGCGAGGGGCAGTGCAAAAGGGAGCTCCTGGTCTTCACTGGGGACCTGGGGTGTGGGAAGAATTCCTAGCCACAAGTGGGAAGGCATCCAGGCAATCAGAAGAGCAAGGGCAGTGGGGTTGTGGTGAAAAACAGTGGGAAGAGCTTTCAAGGACAAGGTCCCCATGGAACAGAGGAGCAGTCTGATGAAGCCGGCGCATGCCTGAGACCACTATCATCAAGCTCTGGGGCTCATGTGCCTCTGAGGTCAGGAGACGGTTTCCCAGGCCTGGATTTGGCCCATTCTGATTAGGGTTAGGCCCTCTATACTGATCTGGCCACAGACCCACTAGCAGCCAGGGTGGGGCCCCTCCTTCAGAATCAAGCAAAAGCTGTGGCCCTCAGGGGGCTGCACCGAGCACCTAGGACATTGATCACTGCATCCAAAGGTCCAAAGTTTTATTGTTTTGAATACATTCTCCAGCGGCCCCTCTACTCCCCCCACCCTCAGTCCCCAATACAGAATAAGGCTTGACCACAGCCCCCCACCCCACCCCAGAGGCCCCAGCTGGGAGGCAGAGGGGGCTTCCAGTTTGGTTTCAGGGCACCCCCTTCCCATCCCCCCACCCGCCTGCCCATGGGCCAGTCCTAGGAGCAGCTGGGGATGAAGGGGTTGGACCGGTGCTGGGGTGGGGAGTGGGAGAGGGATAGCAGGCACTTGTAGAGATTTGTGGCCCATGGGCGGCACCCCTCACCCTCCTCCGCCCCCCACCCCCCAACACATGGAATTTTTGGTTCATTATAAAATTGTCCCTCCCTCCCCTGCTGTGACCTTGTGGGGTATGAGAAACCTAGGCACTCATGGCCCCCTGGAGGGGCAGGGCAGGCAGGGCTGGGGCTGAGGAGGGCTGGGAGTGGGGCAGAGCGGGTGGGTCAGAGGGGTACAAGAGGCAGAGAACAGGGAGGGAGACAAGGCTTTACTTCCTAAGCGATTGTAATAGAAAAGTTCCTGGGTGTTAAGGCCAAAGCCTCAATTCAAATATAAATTCCCCAGAATGGAGGTGACCCCCTTAACTTCCCCCTCCCTCCCCCTACCACCACTTTGCCCAGAGCTTAGAAACCCACAGAGACAGGGAATAGCCCCTAGCCCTGGGCACCCACCCACCCCCACCATTTTTAAAAAAAAGAAATTAAAGTTTTATACAAAATGTGGGGAGGGAAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAGCCCCCAGCGGGGCCCCCACCCCCTTCGAGGCGACAGTCTTCACTCCAGCGCCGCTTAAAGCGTAGCTTGAGGGGCATGCACTGGGATGCCCCGGGTGCCTCGCCGGGCTCAGGCTTAGGGGGTGCAGGTGGGGCACGGGGCGTCTTGAACACCTCCCCGTCTTCCTCATCCTCATCACTGATGTCAGTCACCTCTACCTCCTCCGACTCGCCTTCCGAGATGGGCTCCACCTTGATCTGTGGTGGCGGGGGCGGTGGGGCTAGCGCCCCTGCCCCCTCAGCCAGCCCGCCTGCACTGCCACCGCTCGTCAGCACCGGCTACGGCCTTCTCCCCAGCTGCCCGCTGCCGGCGTCCGAGTGGGGGCGGCTGGAGCTTAAACTTGAATGGGGAGGAAGAAGAAGAAGAGGATGACGAGGCCGAGGAGGGGACCGGTGGGGTCTCGGGTGCCATGGGCGGCAGCGGGCACTTGTCAGGGCGCTGGGGCTGGGGCACCACCAGCCCAGGGTAGTGCAGGAAGGCGCGGGGGCTGAGGTGGTAGTTGTAGACGCTTTGGGTGTGGGCCTGCAGGTACCGTTTCATGTCCTCAGGGCTGAAGGAGAAGTGGGAGCCTCCCCCTGAGCCGCTGGGCCCCCCGCCACCACTGGGGTACATCGGGCTCAGCGTGGGCGAGGGAGTGTAGGCCAGGTGGGTGGGCGTCATGGGCAGAGCCGGGGAGAGCTGAGGGGGCAGCAGGGATCCAGGACCGGCCAGAGGCGACACAGGGAAGGGGCTGAGGGGTTCAGGGCCACCCCGAGGCCGGGGATAGACTCGGAAGACACCAGGGTCATGGGGCAGGCGGGCCAGCGGGGGCCCTCGGAAGGCACCCAGATCCGGAGGGCCGGGTGGTCGGGCGCGGGGATCCTCTCCCAGCGGTTCCTCCAGCTCTGACGTGCCATCACTACAGTCACTGACTGAGCCTCGGCCCAGGCGGCGGGCCACCACAGCCGAGAAGAGGGAAGATGAAGATGAAGAGCAGGCTGGTGGTGAGCGGGGGTCCTCGGTGGGGGACAGCACCTCGGAGGGCGTTGAGGGAGGGAAGCGGAAGTGGCTACCACCCGACGGCACTGGCGGGGCACTCTGGGGCACTGCACCCCCTGGCAGAAGGGAGACAGTGTCAAGGCCCCTGGCCTAGCCTGAAGGGGCATGTAGACCCTCTCCACACCAACCATCCCTGGTACTCACCAGCCAACCCCACATCAATGAATGGGTAATTGACCAGCACCAGTTTGTTGAAATTGAACTTGTAGGTGAACCGTTTCCCCTTGGTCTTGTGCAGAATGCGCTTGTTATAGTAATAGCTGTGGGTACAGAAATGCCATTGGGAAGGTCAGGTACGTGGGACCCAGGTCTAGACTCCACACCTTAACACGCACTTAGGTGTGGTTCCCAAAGGCCAACTGAGGAACGTAGGCCACAAAAGACAAATCAAGTGCCCAGAGGGTGGGTACCAGCTCTCTCCTCACATCTAAGGCAGGACTAGAGGATCCACTGGTGACTGTAATCTCTCCTCAGGATACGTCTGTGTTACCAAGGGGCTCAGGGAAGGGCTGGGAGTGGCCCAAGGTCACACAGCTAGGATTTGGCAAAGCCAGGGGTCAGACCCAATGCTTGTTCCCACAGGCAAGGGGCTGTGCAACCCCGGGGGGGCACTCCACATGTGCTCAGGGGTCCCCAGCCCGTCCTCACCGCAGGGCCCGGCTCAGCTTGTCGTAATTCATCTGGGGCTTGCACTTGCGAACGCCCCACAGCCGGGCCACCTCATCAGGGTCTTTGATGACGAATTCCCCGTAGTCCCCCTGCCAGGCAATGACGCCCTGGTACTCCTCCTTCCGCAGCAGCTCCAGGATAAAGTGCCACAGCTGGATCTGCCTTGAGCCAGGGGACGACTCTGGCTTGTAGGCCCAATCCGGGAAGGCAAACCCTGGGGACGGGAGGCAGGGAGTGGCCTGGGGTCAGGCTGCCAAGTCCAGGGCTCTGGGTCCCATCCCAGGGTCCACCTCTGCCCTGCCTTCAACATGGGGAAATCTGTCTCACCTCAGCCAAGTCAAGATCTGATTTAAGAGAAGACAGTGCGTGTCTGTCTGTCTGCATGTGAGGGGCTAGACAGGAGCTGGGGGGGAGGGGAAGCTGGAGCCCGCTCCAGCGACACCGGGAGAAACAGGAAACCGTCGGCGGTGGGTCCCGGGGCCAGTGCCAGGGGGCCAGGCACCAAGCCAGGCTGGCGGGCAGGGCTGCCAGTGGGGGAGGGGCAGGAAGGGGCACACGTGGCCAGCCGGGTTGGGGTACAGCCCCCCAGCTTACCCCCACTCCCANN
|
pathogenic
| 305,710 |
Does the variant impacting ERF (ETS2 repressor factor) on chromosome 19, position 42248996, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
benign
|
TATTGGACACACAGTAGGTCAACAGCATCGATGACTAGTGAGCCAGTCCCTTGGCTGTGTGCTGGCTGGGGGTGTTCCCATACCTGGACCTGAAGATCACCAAGTTACCTTGCAAGGTCTACATTTCAAGAGACACCACAGGCTGTTCTCCAAAGGACTCCCAGCTGAACTCAGAGCAACAAGAGAGGGGTGTGGGCAGGGTGCGAGGGGCAGTGCAAAAGGGAGCTCCTGGTCTTCACTGGGGACCTGGGGTGTGGGAAGAATTCCTAGCCACAAGTGGGAAGGCATCCAGGCAATCAGAAGAGCAAGGGCAGTGGGGTTGTGGTGAAAAACAGTGGGAAGAGCTTTCAAGGACAAGGTCCCCATGGAACAGAGGAGCAGTCTGATGAAGCCGGCGCATGCCTGAGACCACTATCATCAAGCTCTGGGGCTCATGTGCCTCTGAGGTCAGGAGACGGTTTCCCAGGCCTGGATTTGGCCCATTCTGATTAGGGTTAGGCCCTCTATACTGATCTGGCCACAGACCCACTAGCAGCCAGGGTGGGGCCCCTCCTTCAGAATCAAGCAAAAGCTGTGGCCCTCAGGGGGCTGCACCGAGCACCTAGGACATTGATCACTGCATCCAAAGGTCCAAAGTTTTATTGTTTTGAATACATTCTCCAGCGGCCCCTCTACTCCCCCCACCCTCAGTCCCCAATACAGAATAAGGCTTGACCACAGCCCCCCACCCCACCCCAGAGGCCCCAGCTGGGAGGCAGAGGGGGCTTCCAGTTTGGTTTCAGGGCACCCCCTTCCCATCCCCCCACCCGCCTGCCCATGGGCCAGTCCTAGGAGCAGCTGGGGATGAAGGGGTTGGACCGGTGCTGGGGTGGGGAGTGGGAGAGGGATAGCAGGCACTTGTAGAGATTTGTGGCCCATGGGCGGCACCCCTCACCCTCCTCCGCCCCCCACCCCCCAACACATGGAATTTTTGGTTCATTATAAAATTGTCCCTCCCTCCCCTGCTGTGACCTTGTGGGGTATGAGAAACCTAGGCACTCATGGCCCCCTGGAGGGGCAGGGCAGGCAGGGCTGGGGCTGAGGAGGGCTGGGAGTGGGGCAGAGCGGGTGGGTCAGAGGGGTACAAGAGGCAGAGAACAGGGAGGGAGACAAGGCTTTACTTCCTAAGCGATTGTAATAGAAAAGTTCCTGGGTGTTAAGGCCAAAGCCTCAATTCAAATATAAATTCCCCAGAATGGAGGTGACCCCCTTAACTTCCCCCTCCCTCCCCCTACCACCACTTTGCCCAGAGCTTAGAAACCCACAGAGACAGGGAATAGCCCCTAGCCCTGGGCACCCACCCACCCCCACCATTTTTAAAAAAAAGAAATTAAAGTTTTATACAAAATGTGGGGAGGGAAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAGCCCCCAGCGGGGCCCCCACCCCCTTCGAGGCGACAGTCTTCACTCCAGCGCCGCTTAAAGCGTAGCTTGAGGGGCATGCACTGGGATGCCCCGGGTGCCTCGCCGGGCTCAGGCTTAGGGGGTGCAGGTGGGGCACGGGGCGTCTTGAACACCTCCCCGTCTTCCTCATCCTCATCACTGATGTCAGTCACCTCTACCTCCTCCGACTCGCCTTCCGAGATGGGCTCCACCTTGATCTGTGGTGGCGGGGGCGGTGGGGCTAGCGCCCCTGCCCCCTCAGCCAGCCCGCCTGCACTGCCACCGCTCTTGTCAGCACCGGCTACGGCCTTCTCCCCAGCTGCCCGCTGCCGGCGTCCGAGTGGGGGCGGCTGGAGCTTAAACTTGAATGGGGAGGAAGAAGAAGAAGAGGATGACGAGGCCGAGGAGGGGACCGGTGGGGTCTCGGGTGCCATGGGCGGCAGCGGGCACTTGTCAGGGCGCTGGGGCTGGGGCACCACCAGCCCAGGGTAGTGCAGGAAGGCGCGGGGGCTGAGGTGGTAGTTGTAGACGCTTTGGGTGTGGGCCTGCAGGTACCGTTTCATGTCCTCAGGGCTGAAGGAGAAGTGGGAGCCTCCCCCTGAGCCGCTGGGCCCCCCGCCACCACTGGGGTACATCGGGCTCAGCGTGGGCGAGGGAGTGTAGGCCAGGTGGGTGGGCGTCATGGGCAGAGCCGGGGAGAGCTGAGGGGGCAGCAGGGATCCAGGACCGGCCAGAGGCGACACAGGGAAGGGGCTGAGGGGTTCAGGGCCACCCCGAGGCCGGGGATAGACTCGGAAGACACCAGGGTCATGGGGCAGGCGGGCCAGCGGGGGCCCTCGGAAGGCACCCAGATCCGGAGGGCCGGGTGGTCGGGCGCGGGGATCCTCTCCCAGCGGTTCCTCCAGCTCTGACGTGCCATCACTACAGTCACTGACTGAGCCTCGGCCCAGGCGGCGGGCCACCACAGCCGAGAAGAGGGAAGATGAAGATGAAGAGCAGGCTGGTGGTGAGCGGGGGTCCTCGGTGGGGGACAGCACCTCGGAGGGCGTTGAGGGAGGGAAGCGGAAGTGGCTACCACCCGACGGCACTGGCGGGGCACTCTGGGGCACTGCACCCCCTGGCAGAAGGGAGACAGTGTCAAGGCCCCTGGCCTAGCCTGAAGGGGCATGTAGACCCTCTCCACACCAACCATCCCTGGTACTCACCAGCCAACCCCACATCAATGAATGGGTAATTGACCAGCACCAGTTTGTTGAAATTGAACTTGTAGGTGAACCGTTTCCCCTTGGTCTTGTGCAGAATGCGCTTGTTATAGTAATAGCTGTGGGTACAGAAATGCCATTGGGAAGGTCAGGTACGTGGGACCCAGGTCTAGACTCCACACCTTAACACGCACTTAGGTGTGGTTCCCAAAGGCCAACTGAGGAACGTAGGCCACAAAAGACAAATCAAGTGCCCAGAGGGTGGGTACCAGCTCTCTCCTCACATCTAAGGCAGGACTAGAGGATCCACTGGTGACTGTAATCTCTCCTCAGGATACGTCTGTGTTACCAAGGGGCTCAGGGAAGGGCTGGGAGTGGCCCAAGGTCACACAGCTAGGATTTGGCAAAGCCAGGGGTCAGACCCAATGCTTGTTCCCACAGGCAAGGGGCTGTGCAACCCCGGGGGGGCACTCCACATGTGCTCAGGGGTCCCCAGCCCGTCCTCACCGCAGGGCCCGGCTCAGCTTGTCGTAATTCATCTGGGGCTTGCACTTGCGAACGCCCCACAGCCGGGCCACCTCATCAGGGTCTTTGATGACGAATTCCCCGTAGTCCCCCTGCCAGGCAATGACGCCCTGGTACTCCTCCTTCCGCAGCAGCTCCAGGATAAAGTGCCACAGCTGGATCTGCCTTGAGCCAGGGGACGACTCTGGCTTGTAGGCCCAATCCGGGAAGGCAAACCCTGGGGACGGGAGGCAGGGAGTGGCCTGGGGTCAGGCTGCCAAGTCCAGGGCTCTGGGTCCCATCCCAGGGTCCACCTCTGCCCTGCCTTCAACATGGGGAAATCTGTCTCACCTCAGCCAAGTCAAGATCTGATTTAAGAGAAGACAGTGCGTGTCTGTCTGTCTGCATGTGAGGGGCTAGACAGGAGCTGGGGGGGAGGGGAAGCTGGAGCCCGCTCCAGCGACACCGGGAGAAACAGGAAACCGTCGGCGGTGGGTCCCGGGGCCAGTGCCAGGGGGCCAGGCACCAAGCCAGGCTGGCGGGCAGGGCTGCCAGTGGGGGAGGGGCAGGAAGGGGCACACGTGGCCAGCCGGGTTGGGGTACAGCCCCCCAGCTTACCCCCACTCCCATTCAGAGCCAGTTGCACCACCCCAGCTCCTCGGATGTCCTCCTTAGAAACATGCACTGTCTCCTCCGAAGACCCAACAGAGCCCCTA
|
TATTGGACACACAGTAGGTCAACAGCATCGATGACTAGTGAGCCAGTCCCTTGGCTGTGTGCTGGCTGGGGGTGTTCCCATACCTGGACCTGAAGATCACCAAGTTACCTTGCAAGGTCTACATTTCAAGAGACACCACAGGCTGTTCTCCAAAGGACTCCCAGCTGAACTCAGAGCAACAAGAGAGGGGTGTGGGCAGGGTGCGAGGGGCAGTGCAAAAGGGAGCTCCTGGTCTTCACTGGGGACCTGGGGTGTGGGAAGAATTCCTAGCCACAAGTGGGAAGGCATCCAGGCAATCAGAAGAGCAAGGGCAGTGGGGTTGTGGTGAAAAACAGTGGGAAGAGCTTTCAAGGACAAGGTCCCCATGGAACAGAGGAGCAGTCTGATGAAGCCGGCGCATGCCTGAGACCACTATCATCAAGCTCTGGGGCTCATGTGCCTCTGAGGTCAGGAGACGGTTTCCCAGGCCTGGATTTGGCCCATTCTGATTAGGGTTAGGCCCTCTATACTGATCTGGCCACAGACCCACTAGCAGCCAGGGTGGGGCCCCTCCTTCAGAATCAAGCAAAAGCTGTGGCCCTCAGGGGGCTGCACCGAGCACCTAGGACATTGATCACTGCATCCAAAGGTCCAAAGTTTTATTGTTTTGAATACATTCTCCAGCGGCCCCTCTACTCCCCCCACCCTCAGTCCCCAATACAGAATAAGGCTTGACCACAGCCCCCCACCCCACCCCAGAGGCCCCAGCTGGGAGGCAGAGGGGGCTTCCAGTTTGGTTTCAGGGCACCCCCTTCCCATCCCCCCACCCGCCTGCCCATGGGCCAGTCCTAGGAGCAGCTGGGGATGAAGGGGTTGGACCGGTGCTGGGGTGGGGAGTGGGAGAGGGATAGCAGGCACTTGTAGAGATTTGTGGCCCATGGGCGGCACCCCTCACCCTCCTCCGCCCCCCACCCCCCAACACATGGAATTTTTGGTTCATTATAAAATTGTCCCTCCCTCCCCTGCTGTGACCTTGTGGGGTATGAGAAACCTAGGCACTCATGGCCCCCTGGAGGGGCAGGGCAGGCAGGGCTGGGGCTGAGGAGGGCTGGGAGTGGGGCAGAGCGGGTGGGTCAGAGGGGTACAAGAGGCAGAGAACAGGGAGGGAGACAAGGCTTTACTTCCTAAGCGATTGTAATAGAAAAGTTCCTGGGTGTTAAGGCCAAAGCCTCAATTCAAATATAAATTCCCCAGAATGGAGGTGACCCCCTTAACTTCCCCCTCCCTCCCCCTACCACCACTTTGCCCAGAGCTTAGAAACCCACAGAGACAGGGAATAGCCCCTAGCCCTGGGCACCCACCCACCCCCACCATTTTTAAAAAAAAGAAATTAAAGTTTTATACAAAATGTGGGGAGGGAAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAGCCCCCAGCGGGGCCCCCACCCCCTTCGAGGCGACAGTCTTCACTCCAGCGCCGCTTAAAGCGTAGCTTGAGGGGCATGCACTGGGATGCCCCGGGTGCCTCGCCGGGCTCAGGCTTAGGGGGTGCAGGTGGGGCACGGGGCGTCTTGAACACCTCCCCGTCTTCCTCATCCTCATCACTGATGTCAGTCACCTCTACCTCCTCCGACTCGCCTTCCGAGATGGGCTCCACCTTGATCTGTGGTGGCGGGGGCGGTGGGGCTAGCGCCCCTGCCCCCTCAGCCAGCCCGCCTGCACTGCCACCGCTCTTGTCAGCACCGGCTACGGCCTTCTCCCCAGCTGCCCGCTGCCGGCGTCCGAGTGGGGGCGGCTGGAGCTTAAACTTGAATGGGGAGGAAGAAGAAGAGGATGACGAGGCCGAGGAGGGGACCGGTGGGGTCTCGGGTGCCATGGGCGGCAGCGGGCACTTGTCAGGGCGCTGGGGCTGGGGCACCACCAGCCCAGGGTAGTGCAGGAAGGCGCGGGGGCTGAGGTGGTAGTTGTAGACGCTTTGGGTGTGGGCCTGCAGGTACCGTTTCATGTCCTCAGGGCTGAAGGAGAAGTGGGAGCCTCCCCCTGAGCCGCTGGGCCCCCCGCCACCACTGGGGTACATCGGGCTCAGCGTGGGCGAGGGAGTGTAGGCCAGGTGGGTGGGCGTCATGGGCAGAGCCGGGGAGAGCTGAGGGGGCAGCAGGGATCCAGGACCGGCCAGAGGCGACACAGGGAAGGGGCTGAGGGGTTCAGGGCCACCCCGAGGCCGGGGATAGACTCGGAAGACACCAGGGTCATGGGGCAGGCGGGCCAGCGGGGGCCCTCGGAAGGCACCCAGATCCGGAGGGCCGGGTGGTCGGGCGCGGGGATCCTCTCCCAGCGGTTCCTCCAGCTCTGACGTGCCATCACTACAGTCACTGACTGAGCCTCGGCCCAGGCGGCGGGCCACCACAGCCGAGAAGAGGGAAGATGAAGATGAAGAGCAGGCTGGTGGTGAGCGGGGGTCCTCGGTGGGGGACAGCACCTCGGAGGGCGTTGAGGGAGGGAAGCGGAAGTGGCTACCACCCGACGGCACTGGCGGGGCACTCTGGGGCACTGCACCCCCTGGCAGAAGGGAGACAGTGTCAAGGCCCCTGGCCTAGCCTGAAGGGGCATGTAGACCCTCTCCACACCAACCATCCCTGGTACTCACCAGCCAACCCCACATCAATGAATGGGTAATTGACCAGCACCAGTTTGTTGAAATTGAACTTGTAGGTGAACCGTTTCCCCTTGGTCTTGTGCAGAATGCGCTTGTTATAGTAATAGCTGTGGGTACAGAAATGCCATTGGGAAGGTCAGGTACGTGGGACCCAGGTCTAGACTCCACACCTTAACACGCACTTAGGTGTGGTTCCCAAAGGCCAACTGAGGAACGTAGGCCACAAAAGACAAATCAAGTGCCCAGAGGGTGGGTACCAGCTCTCTCCTCACATCTAAGGCAGGACTAGAGGATCCACTGGTGACTGTAATCTCTCCTCAGGATACGTCTGTGTTACCAAGGGGCTCAGGGAAGGGCTGGGAGTGGCCCAAGGTCACACAGCTAGGATTTGGCAAAGCCAGGGGTCAGACCCAATGCTTGTTCCCACAGGCAAGGGGCTGTGCAACCCCGGGGGGGCACTCCACATGTGCTCAGGGGTCCCCAGCCCGTCCTCACCGCAGGGCCCGGCTCAGCTTGTCGTAATTCATCTGGGGCTTGCACTTGCGAACGCCCCACAGCCGGGCCACCTCATCAGGGTCTTTGATGACGAATTCCCCGTAGTCCCCCTGCCAGGCAATGACGCCCTGGTACTCCTCCTTCCGCAGCAGCTCCAGGATAAAGTGCCACAGCTGGATCTGCCTTGAGCCAGGGGACGACTCTGGCTTGTAGGCCCAATCCGGGAAGGCAAACCCTGGGGACGGGAGGCAGGGAGTGGCCTGGGGTCAGGCTGCCAAGTCCAGGGCTCTGGGTCCCATCCCAGGGTCCACCTCTGCCCTGCCTTCAACATGGGGAAATCTGTCTCACCTCAGCCAAGTCAAGATCTGATTTAAGAGAAGACAGTGCGTGTCTGTCTGTCTGCATGTGAGGGGCTAGACAGGAGCTGGGGGGGAGGGGAAGCTGGAGCCCGCTCCAGCGACACCGGGAGAAACAGGAAACCGTCGGCGGTGGGTCCCGGGGCCAGTGCCAGGGGGCCAGGCACCAAGCCAGGCTGGCGGGCAGGGCTGCCAGTGGGGGAGGGGCAGGAAGGGGCACACGTGGCCAGCCGGGTTGGGGTACAGCCCCCCAGCTTACCCCCACTCCCATTCAGAGCCAGTTGCACCACCCCAGCTCCTCGGATGTCCTCCTTAGAAACATGCACTGTCTCCTCCGAAGACCCAACAGAGCCCCTANNN
|
benign
| 305,712 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 42249038, gene ERF (ETS2 repressor factor): what disease(s) if pathogenic?
|
pathogenic; ['TWIST1-related_craniosynostosis']
|
CCAGTCCCTTGGCTGTGTGCTGGCTGGGGGTGTTCCCATACCTGGACCTGAAGATCACCAAGTTACCTTGCAAGGTCTACATTTCAAGAGACACCACAGGCTGTTCTCCAAAGGACTCCCAGCTGAACTCAGAGCAACAAGAGAGGGGTGTGGGCAGGGTGCGAGGGGCAGTGCAAAAGGGAGCTCCTGGTCTTCACTGGGGACCTGGGGTGTGGGAAGAATTCCTAGCCACAAGTGGGAAGGCATCCAGGCAATCAGAAGAGCAAGGGCAGTGGGGTTGTGGTGAAAAACAGTGGGAAGAGCTTTCAAGGACAAGGTCCCCATGGAACAGAGGAGCAGTCTGATGAAGCCGGCGCATGCCTGAGACCACTATCATCAAGCTCTGGGGCTCATGTGCCTCTGAGGTCAGGAGACGGTTTCCCAGGCCTGGATTTGGCCCATTCTGATTAGGGTTAGGCCCTCTATACTGATCTGGCCACAGACCCACTAGCAGCCAGGGTGGGGCCCCTCCTTCAGAATCAAGCAAAAGCTGTGGCCCTCAGGGGGCTGCACCGAGCACCTAGGACATTGATCACTGCATCCAAAGGTCCAAAGTTTTATTGTTTTGAATACATTCTCCAGCGGCCCCTCTACTCCCCCCACCCTCAGTCCCCAATACAGAATAAGGCTTGACCACAGCCCCCCACCCCACCCCAGAGGCCCCAGCTGGGAGGCAGAGGGGGCTTCCAGTTTGGTTTCAGGGCACCCCCTTCCCATCCCCCCACCCGCCTGCCCATGGGCCAGTCCTAGGAGCAGCTGGGGATGAAGGGGTTGGACCGGTGCTGGGGTGGGGAGTGGGAGAGGGATAGCAGGCACTTGTAGAGATTTGTGGCCCATGGGCGGCACCCCTCACCCTCCTCCGCCCCCCACCCCCCAACACATGGAATTTTTGGTTCATTATAAAATTGTCCCTCCCTCCCCTGCTGTGACCTTGTGGGGTATGAGAAACCTAGGCACTCATGGCCCCCTGGAGGGGCAGGGCAGGCAGGGCTGGGGCTGAGGAGGGCTGGGAGTGGGGCAGAGCGGGTGGGTCAGAGGGGTACAAGAGGCAGAGAACAGGGAGGGAGACAAGGCTTTACTTCCTAAGCGATTGTAATAGAAAAGTTCCTGGGTGTTAAGGCCAAAGCCTCAATTCAAATATAAATTCCCCAGAATGGAGGTGACCCCCTTAACTTCCCCCTCCCTCCCCCTACCACCACTTTGCCCAGAGCTTAGAAACCCACAGAGACAGGGAATAGCCCCTAGCCCTGGGCACCCACCCACCCCCACCATTTTTAAAAAAAAGAAATTAAAGTTTTATACAAAATGTGGGGAGGGAAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAGCCCCCAGCGGGGCCCCCACCCCCTTCGAGGCGACAGTCTTCACTCCAGCGCCGCTTAAAGCGTAGCTTGAGGGGCATGCACTGGGATGCCCCGGGTGCCTCGCCGGGCTCAGGCTTAGGGGGTGCAGGTGGGGCACGGGGCGTCTTGAACACCTCCCCGTCTTCCTCATCCTCATCACTGATGTCAGTCACCTCTACCTCCTCCGACTCGCCTTCCGAGATGGGCTCCACCTTGATCTGTGGTGGCGGGGGCGGTGGGGCTAGCGCCCCTGCCCCCTCAGCCAGCCCGCCTGCACTGCCACCGCTCTTGTCAGCACCGGCTACGGCCTTCTCCCCAGCTGCCCGCTGCCGGCGTCCGAGTGGGGGCGGCTGGAGCTTAAACTTGAATGGGGAGGAAGAAGAAGAAGAGGATGACGAGGCCGAGGAGGGGACCGGTGGGGTCTCGGGTGCCATGGGCGGCAGCGGGCACTTGTCAGGGCGCTGGGGCTGGGGCACCACCAGCCCAGGGTAGTGCAGGAAGGCGCGGGGGCTGAGGTGGTAGTTGTAGACGCTTTGGGTGTGGGCCTGCAGGTACCGTTTCATGTCCTCAGGGCTGAAGGAGAAGTGGGAGCCTCCCCCTGAGCCGCTGGGCCCCCCGCCACCACTGGGGTACATCGGGCTCAGCGTGGGCGAGGGAGTGTAGGCCAGGTGGGTGGGCGTCATGGGCAGAGCCGGGGAGAGCTGAGGGGGCAGCAGGGATCCAGGACCGGCCAGAGGCGACACAGGGAAGGGGCTGAGGGGTTCAGGGCCACCCCGAGGCCGGGGATAGACTCGGAAGACACCAGGGTCATGGGGCAGGCGGGCCAGCGGGGGCCCTCGGAAGGCACCCAGATCCGGAGGGCCGGGTGGTCGGGCGCGGGGATCCTCTCCCAGCGGTTCCTCCAGCTCTGACGTGCCATCACTACAGTCACTGACTGAGCCTCGGCCCAGGCGGCGGGCCACCACAGCCGAGAAGAGGGAAGATGAAGATGAAGAGCAGGCTGGTGGTGAGCGGGGGTCCTCGGTGGGGGACAGCACCTCGGAGGGCGTTGAGGGAGGGAAGCGGAAGTGGCTACCACCCGACGGCACTGGCGGGGCACTCTGGGGCACTGCACCCCCTGGCAGAAGGGAGACAGTGTCAAGGCCCCTGGCCTAGCCTGAAGGGGCATGTAGACCCTCTCCACACCAACCATCCCTGGTACTCACCAGCCAACCCCACATCAATGAATGGGTAATTGACCAGCACCAGTTTGTTGAAATTGAACTTGTAGGTGAACCGTTTCCCCTTGGTCTTGTGCAGAATGCGCTTGTTATAGTAATAGCTGTGGGTACAGAAATGCCATTGGGAAGGTCAGGTACGTGGGACCCAGGTCTAGACTCCACACCTTAACACGCACTTAGGTGTGGTTCCCAAAGGCCAACTGAGGAACGTAGGCCACAAAAGACAAATCAAGTGCCCAGAGGGTGGGTACCAGCTCTCTCCTCACATCTAAGGCAGGACTAGAGGATCCACTGGTGACTGTAATCTCTCCTCAGGATACGTCTGTGTTACCAAGGGGCTCAGGGAAGGGCTGGGAGTGGCCCAAGGTCACACAGCTAGGATTTGGCAAAGCCAGGGGTCAGACCCAATGCTTGTTCCCACAGGCAAGGGGCTGTGCAACCCCGGGGGGGCACTCCACATGTGCTCAGGGGTCCCCAGCCCGTCCTCACCGCAGGGCCCGGCTCAGCTTGTCGTAATTCATCTGGGGCTTGCACTTGCGAACGCCCCACAGCCGGGCCACCTCATCAGGGTCTTTGATGACGAATTCCCCGTAGTCCCCCTGCCAGGCAATGACGCCCTGGTACTCCTCCTTCCGCAGCAGCTCCAGGATAAAGTGCCACAGCTGGATCTGCCTTGAGCCAGGGGACGACTCTGGCTTGTAGGCCCAATCCGGGAAGGCAAACCCTGGGGACGGGAGGCAGGGAGTGGCCTGGGGTCAGGCTGCCAAGTCCAGGGCTCTGGGTCCCATCCCAGGGTCCACCTCTGCCCTGCCTTCAACATGGGGAAATCTGTCTCACCTCAGCCAAGTCAAGATCTGATTTAAGAGAAGACAGTGCGTGTCTGTCTGTCTGCATGTGAGGGGCTAGACAGGAGCTGGGGGGGAGGGGAAGCTGGAGCCCGCTCCAGCGACACCGGGAGAAACAGGAAACCGTCGGCGGTGGGTCCCGGGGCCAGTGCCAGGGGGCCAGGCACCAAGCCAGGCTGGCGGGCAGGGCTGCCAGTGGGGGAGGGGCAGGAAGGGGCACACGTGGCCAGCCGGGTTGGGGTACAGCCCCCCAGCTTACCCCCACTCCCATTCAGAGCCAGTTGCACCACCCCAGCTCCTCGGATGTCCTCCTTAGAAACATGCACTGTCTCCTCCGAAGACCCAACAGAGCCCCTACTCCCAACCCCAAGACCTGAGAGGAAGATTTTTTTTTTTTTT
|
CCAGTCCCTTGGCTGTGTGCTGGCTGGGGGTGTTCCCATACCTGGACCTGAAGATCACCAAGTTACCTTGCAAGGTCTACATTTCAAGAGACACCACAGGCTGTTCTCCAAAGGACTCCCAGCTGAACTCAGAGCAACAAGAGAGGGGTGTGGGCAGGGTGCGAGGGGCAGTGCAAAAGGGAGCTCCTGGTCTTCACTGGGGACCTGGGGTGTGGGAAGAATTCCTAGCCACAAGTGGGAAGGCATCCAGGCAATCAGAAGAGCAAGGGCAGTGGGGTTGTGGTGAAAAACAGTGGGAAGAGCTTTCAAGGACAAGGTCCCCATGGAACAGAGGAGCAGTCTGATGAAGCCGGCGCATGCCTGAGACCACTATCATCAAGCTCTGGGGCTCATGTGCCTCTGAGGTCAGGAGACGGTTTCCCAGGCCTGGATTTGGCCCATTCTGATTAGGGTTAGGCCCTCTATACTGATCTGGCCACAGACCCACTAGCAGCCAGGGTGGGGCCCCTCCTTCAGAATCAAGCAAAAGCTGTGGCCCTCAGGGGGCTGCACCGAGCACCTAGGACATTGATCACTGCATCCAAAGGTCCAAAGTTTTATTGTTTTGAATACATTCTCCAGCGGCCCCTCTACTCCCCCCACCCTCAGTCCCCAATACAGAATAAGGCTTGACCACAGCCCCCCACCCCACCCCAGAGGCCCCAGCTGGGAGGCAGAGGGGGCTTCCAGTTTGGTTTCAGGGCACCCCCTTCCCATCCCCCCACCCGCCTGCCCATGGGCCAGTCCTAGGAGCAGCTGGGGATGAAGGGGTTGGACCGGTGCTGGGGTGGGGAGTGGGAGAGGGATAGCAGGCACTTGTAGAGATTTGTGGCCCATGGGCGGCACCCCTCACCCTCCTCCGCCCCCCACCCCCCAACACATGGAATTTTTGGTTCATTATAAAATTGTCCCTCCCTCCCCTGCTGTGACCTTGTGGGGTATGAGAAACCTAGGCACTCATGGCCCCCTGGAGGGGCAGGGCAGGCAGGGCTGGGGCTGAGGAGGGCTGGGAGTGGGGCAGAGCGGGTGGGTCAGAGGGGTACAAGAGGCAGAGAACAGGGAGGGAGACAAGGCTTTACTTCCTAAGCGATTGTAATAGAAAAGTTCCTGGGTGTTAAGGCCAAAGCCTCAATTCAAATATAAATTCCCCAGAATGGAGGTGACCCCCTTAACTTCCCCCTCCCTCCCCCTACCACCACTTTGCCCAGAGCTTAGAAACCCACAGAGACAGGGAATAGCCCCTAGCCCTGGGCACCCACCCACCCCCACCATTTTTAAAAAAAAGAAATTAAAGTTTTATACAAAATGTGGGGAGGGAAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAGCCCCCAGCGGGGCCCCCACCCCCTTCGAGGCGACAGTCTTCACTCCAGCGCCGCTTAAAGCGTAGCTTGAGGGGCATGCACTGGGATGCCCCGGGTGCCTCGCCGGGCTCAGGCTTAGGGGGTGCAGGTGGGGCACGGGGCGTCTTGAACACCTCCCCGTCTTCCTCATCCTCATCACTGATGTCAGTCACCTCTACCTCCTCCGACTCGCCTTCCGAGATGGGCTCCACCTTGATCTGTGGTGGCGGGGGCGGTGGGGCTAGCGCCCCTGCCCCCTCAGCCAGCCCGCCTGCACTGCCACCGCTCTTGTCAGCACCGGCTACGGCCTTCTCCCCAGCTGCCCGCTGCCGGCGTCCGAGTGGGGGCGGCTGGAGCTTAAACTTGAATGGGGAGGAAGAAGAAGAAGAGGATGACGAGGCCGAGGAGGGGACCGGTGGTCTCGGGTGCCATGGGCGGCAGCGGGCACTTGTCAGGGCGCTGGGGCTGGGGCACCACCAGCCCAGGGTAGTGCAGGAAGGCGCGGGGGCTGAGGTGGTAGTTGTAGACGCTTTGGGTGTGGGCCTGCAGGTACCGTTTCATGTCCTCAGGGCTGAAGGAGAAGTGGGAGCCTCCCCCTGAGCCGCTGGGCCCCCCGCCACCACTGGGGTACATCGGGCTCAGCGTGGGCGAGGGAGTGTAGGCCAGGTGGGTGGGCGTCATGGGCAGAGCCGGGGAGAGCTGAGGGGGCAGCAGGGATCCAGGACCGGCCAGAGGCGACACAGGGAAGGGGCTGAGGGGTTCAGGGCCACCCCGAGGCCGGGGATAGACTCGGAAGACACCAGGGTCATGGGGCAGGCGGGCCAGCGGGGGCCCTCGGAAGGCACCCAGATCCGGAGGGCCGGGTGGTCGGGCGCGGGGATCCTCTCCCAGCGGTTCCTCCAGCTCTGACGTGCCATCACTACAGTCACTGACTGAGCCTCGGCCCAGGCGGCGGGCCACCACAGCCGAGAAGAGGGAAGATGAAGATGAAGAGCAGGCTGGTGGTGAGCGGGGGTCCTCGGTGGGGGACAGCACCTCGGAGGGCGTTGAGGGAGGGAAGCGGAAGTGGCTACCACCCGACGGCACTGGCGGGGCACTCTGGGGCACTGCACCCCCTGGCAGAAGGGAGACAGTGTCAAGGCCCCTGGCCTAGCCTGAAGGGGCATGTAGACCCTCTCCACACCAACCATCCCTGGTACTCACCAGCCAACCCCACATCAATGAATGGGTAATTGACCAGCACCAGTTTGTTGAAATTGAACTTGTAGGTGAACCGTTTCCCCTTGGTCTTGTGCAGAATGCGCTTGTTATAGTAATAGCTGTGGGTACAGAAATGCCATTGGGAAGGTCAGGTACGTGGGACCCAGGTCTAGACTCCACACCTTAACACGCACTTAGGTGTGGTTCCCAAAGGCCAACTGAGGAACGTAGGCCACAAAAGACAAATCAAGTGCCCAGAGGGTGGGTACCAGCTCTCTCCTCACATCTAAGGCAGGACTAGAGGATCCACTGGTGACTGTAATCTCTCCTCAGGATACGTCTGTGTTACCAAGGGGCTCAGGGAAGGGCTGGGAGTGGCCCAAGGTCACACAGCTAGGATTTGGCAAAGCCAGGGGTCAGACCCAATGCTTGTTCCCACAGGCAAGGGGCTGTGCAACCCCGGGGGGGCACTCCACATGTGCTCAGGGGTCCCCAGCCCGTCCTCACCGCAGGGCCCGGCTCAGCTTGTCGTAATTCATCTGGGGCTTGCACTTGCGAACGCCCCACAGCCGGGCCACCTCATCAGGGTCTTTGATGACGAATTCCCCGTAGTCCCCCTGCCAGGCAATGACGCCCTGGTACTCCTCCTTCCGCAGCAGCTCCAGGATAAAGTGCCACAGCTGGATCTGCCTTGAGCCAGGGGACGACTCTGGCTTGTAGGCCCAATCCGGGAAGGCAAACCCTGGGGACGGGAGGCAGGGAGTGGCCTGGGGTCAGGCTGCCAAGTCCAGGGCTCTGGGTCCCATCCCAGGGTCCACCTCTGCCCTGCCTTCAACATGGGGAAATCTGTCTCACCTCAGCCAAGTCAAGATCTGATTTAAGAGAAGACAGTGCGTGTCTGTCTGTCTGCATGTGAGGGGCTAGACAGGAGCTGGGGGGGAGGGGAAGCTGGAGCCCGCTCCAGCGACACCGGGAGAAACAGGAAACCGTCGGCGGTGGGTCCCGGGGCCAGTGCCAGGGGGCCAGGCACCAAGCCAGGCTGGCGGGCAGGGCTGCCAGTGGGGGAGGGGCAGGAAGGGGCACACGTGGCCAGCCGGGTTGGGGTACAGCCCCCCAGCTTACCCCCACTCCCATTCAGAGCCAGTTGCACCACCCCAGCTCCTCGGATGTCCTCCTTAGAAACATGCACTGTCTCCTCCGAAGACCCAACAGAGCCCCTACTCCCAACCCCAAGACCTGAGAGGAAGATTTTTTTTTTTTTTNN
|
pathogenic
| 305,714 |
Gene mutation in ERF (ETS2 repressor factor) at chromosome 19, position 42249219—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Chitayat_syndrome', 'Craniosynostosis_4', 'Inborn_genetic_diseases', 'TWIST1-related_craniosynostosis']
|
AGCTCCTGGTCTTCACTGGGGACCTGGGGTGTGGGAAGAATTCCTAGCCACAAGTGGGAAGGCATCCAGGCAATCAGAAGAGCAAGGGCAGTGGGGTTGTGGTGAAAAACAGTGGGAAGAGCTTTCAAGGACAAGGTCCCCATGGAACAGAGGAGCAGTCTGATGAAGCCGGCGCATGCCTGAGACCACTATCATCAAGCTCTGGGGCTCATGTGCCTCTGAGGTCAGGAGACGGTTTCCCAGGCCTGGATTTGGCCCATTCTGATTAGGGTTAGGCCCTCTATACTGATCTGGCCACAGACCCACTAGCAGCCAGGGTGGGGCCCCTCCTTCAGAATCAAGCAAAAGCTGTGGCCCTCAGGGGGCTGCACCGAGCACCTAGGACATTGATCACTGCATCCAAAGGTCCAAAGTTTTATTGTTTTGAATACATTCTCCAGCGGCCCCTCTACTCCCCCCACCCTCAGTCCCCAATACAGAATAAGGCTTGACCACAGCCCCCCACCCCACCCCAGAGGCCCCAGCTGGGAGGCAGAGGGGGCTTCCAGTTTGGTTTCAGGGCACCCCCTTCCCATCCCCCCACCCGCCTGCCCATGGGCCAGTCCTAGGAGCAGCTGGGGATGAAGGGGTTGGACCGGTGCTGGGGTGGGGAGTGGGAGAGGGATAGCAGGCACTTGTAGAGATTTGTGGCCCATGGGCGGCACCCCTCACCCTCCTCCGCCCCCCACCCCCCAACACATGGAATTTTTGGTTCATTATAAAATTGTCCCTCCCTCCCCTGCTGTGACCTTGTGGGGTATGAGAAACCTAGGCACTCATGGCCCCCTGGAGGGGCAGGGCAGGCAGGGCTGGGGCTGAGGAGGGCTGGGAGTGGGGCAGAGCGGGTGGGTCAGAGGGGTACAAGAGGCAGAGAACAGGGAGGGAGACAAGGCTTTACTTCCTAAGCGATTGTAATAGAAAAGTTCCTGGGTGTTAAGGCCAAAGCCTCAATTCAAATATAAATTCCCCAGAATGGAGGTGACCCCCTTAACTTCCCCCTCCCTCCCCCTACCACCACTTTGCCCAGAGCTTAGAAACCCACAGAGACAGGGAATAGCCCCTAGCCCTGGGCACCCACCCACCCCCACCATTTTTAAAAAAAAGAAATTAAAGTTTTATACAAAATGTGGGGAGGGAAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAGCCCCCAGCGGGGCCCCCACCCCCTTCGAGGCGACAGTCTTCACTCCAGCGCCGCTTAAAGCGTAGCTTGAGGGGCATGCACTGGGATGCCCCGGGTGCCTCGCCGGGCTCAGGCTTAGGGGGTGCAGGTGGGGCACGGGGCGTCTTGAACACCTCCCCGTCTTCCTCATCCTCATCACTGATGTCAGTCACCTCTACCTCCTCCGACTCGCCTTCCGAGATGGGCTCCACCTTGATCTGTGGTGGCGGGGGCGGTGGGGCTAGCGCCCCTGCCCCCTCAGCCAGCCCGCCTGCACTGCCACCGCTCTTGTCAGCACCGGCTACGGCCTTCTCCCCAGCTGCCCGCTGCCGGCGTCCGAGTGGGGGCGGCTGGAGCTTAAACTTGAATGGGGAGGAAGAAGAAGAAGAGGATGACGAGGCCGAGGAGGGGACCGGTGGGGTCTCGGGTGCCATGGGCGGCAGCGGGCACTTGTCAGGGCGCTGGGGCTGGGGCACCACCAGCCCAGGGTAGTGCAGGAAGGCGCGGGGGCTGAGGTGGTAGTTGTAGACGCTTTGGGTGTGGGCCTGCAGGTACCGTTTCATGTCCTCAGGGCTGAAGGAGAAGTGGGAGCCTCCCCCTGAGCCGCTGGGCCCCCCGCCACCACTGGGGTACATCGGGCTCAGCGTGGGCGAGGGAGTGTAGGCCAGGTGGGTGGGCGTCATGGGCAGAGCCGGGGAGAGCTGAGGGGGCAGCAGGGATCCAGGACCGGCCAGAGGCGACACAGGGAAGGGGCTGAGGGGTTCAGGGCCACCCCGAGGCCGGGGATAGACTCGGAAGACACCAGGGTCATGGGGCAGGCGGGCCAGCGGGGGCCCTCGGAAGGCACCCAGATCCGGAGGGCCGGGTGGTCGGGCGCGGGGATCCTCTCCCAGCGGTTCCTCCAGCTCTGACGTGCCATCACTACAGTCACTGACTGAGCCTCGGCCCAGGCGGCGGGCCACCACAGCCGAGAAGAGGGAAGATGAAGATGAAGAGCAGGCTGGTGGTGAGCGGGGGTCCTCGGTGGGGGACAGCACCTCGGAGGGCGTTGAGGGAGGGAAGCGGAAGTGGCTACCACCCGACGGCACTGGCGGGGCACTCTGGGGCACTGCACCCCCTGGCAGAAGGGAGACAGTGTCAAGGCCCCTGGCCTAGCCTGAAGGGGCATGTAGACCCTCTCCACACCAACCATCCCTGGTACTCACCAGCCAACCCCACATCAATGAATGGGTAATTGACCAGCACCAGTTTGTTGAAATTGAACTTGTAGGTGAACCGTTTCCCCTTGGTCTTGTGCAGAATGCGCTTGTTATAGTAATAGCTGTGGGTACAGAAATGCCATTGGGAAGGTCAGGTACGTGGGACCCAGGTCTAGACTCCACACCTTAACACGCACTTAGGTGTGGTTCCCAAAGGCCAACTGAGGAACGTAGGCCACAAAAGACAAATCAAGTGCCCAGAGGGTGGGTACCAGCTCTCTCCTCACATCTAAGGCAGGACTAGAGGATCCACTGGTGACTGTAATCTCTCCTCAGGATACGTCTGTGTTACCAAGGGGCTCAGGGAAGGGCTGGGAGTGGCCCAAGGTCACACAGCTAGGATTTGGCAAAGCCAGGGGTCAGACCCAATGCTTGTTCCCACAGGCAAGGGGCTGTGCAACCCCGGGGGGGCACTCCACATGTGCTCAGGGGTCCCCAGCCCGTCCTCACCGCAGGGCCCGGCTCAGCTTGTCGTAATTCATCTGGGGCTTGCACTTGCGAACGCCCCACAGCCGGGCCACCTCATCAGGGTCTTTGATGACGAATTCCCCGTAGTCCCCCTGCCAGGCAATGACGCCCTGGTACTCCTCCTTCCGCAGCAGCTCCAGGATAAAGTGCCACAGCTGGATCTGCCTTGAGCCAGGGGACGACTCTGGCTTGTAGGCCCAATCCGGGAAGGCAAACCCTGGGGACGGGAGGCAGGGAGTGGCCTGGGGTCAGGCTGCCAAGTCCAGGGCTCTGGGTCCCATCCCAGGGTCCACCTCTGCCCTGCCTTCAACATGGGGAAATCTGTCTCACCTCAGCCAAGTCAAGATCTGATTTAAGAGAAGACAGTGCGTGTCTGTCTGTCTGCATGTGAGGGGCTAGACAGGAGCTGGGGGGGAGGGGAAGCTGGAGCCCGCTCCAGCGACACCGGGAGAAACAGGAAACCGTCGGCGGTGGGTCCCGGGGCCAGTGCCAGGGGGCCAGGCACCAAGCCAGGCTGGCGGGCAGGGCTGCCAGTGGGGGAGGGGCAGGAAGGGGCACACGTGGCCAGCCGGGTTGGGGTACAGCCCCCCAGCTTACCCCCACTCCCATTCAGAGCCAGTTGCACCACCCCAGCTCCTCGGATGTCCTCCTTAGAAACATGCACTGTCTCCTCCGAAGACCCAACAGAGCCCCTACTCCCAACCCCAAGACCTGAGAGGAAGATTTTTTTTTTTTTTCTTAAAAGGACCAGGAGGGGTGGGGTGACTCGGTTGCCGATGAGGTCAGCGCTTGCACACACAGAGGCTTCTGTCTTCCCTGGAGAGTGAAACCCAGACTGTCTGAGAGGCCCCCCAAGCCCTGGACCCTCTGAGCTACACTGCCCTCCCCAGACCCAGGCATCCAGGCCCCACCTGGCTG
|
AGCTCCTGGTCTTCACTGGGGACCTGGGGTGTGGGAAGAATTCCTAGCCACAAGTGGGAAGGCATCCAGGCAATCAGAAGAGCAAGGGCAGTGGGGTTGTGGTGAAAAACAGTGGGAAGAGCTTTCAAGGACAAGGTCCCCATGGAACAGAGGAGCAGTCTGATGAAGCCGGCGCATGCCTGAGACCACTATCATCAAGCTCTGGGGCTCATGTGCCTCTGAGGTCAGGAGACGGTTTCCCAGGCCTGGATTTGGCCCATTCTGATTAGGGTTAGGCCCTCTATACTGATCTGGCCACAGACCCACTAGCAGCCAGGGTGGGGCCCCTCCTTCAGAATCAAGCAAAAGCTGTGGCCCTCAGGGGGCTGCACCGAGCACCTAGGACATTGATCACTGCATCCAAAGGTCCAAAGTTTTATTGTTTTGAATACATTCTCCAGCGGCCCCTCTACTCCCCCCACCCTCAGTCCCCAATACAGAATAAGGCTTGACCACAGCCCCCCACCCCACCCCAGAGGCCCCAGCTGGGAGGCAGAGGGGGCTTCCAGTTTGGTTTCAGGGCACCCCCTTCCCATCCCCCCACCCGCCTGCCCATGGGCCAGTCCTAGGAGCAGCTGGGGATGAAGGGGTTGGACCGGTGCTGGGGTGGGGAGTGGGAGAGGGATAGCAGGCACTTGTAGAGATTTGTGGCCCATGGGCGGCACCCCTCACCCTCCTCCGCCCCCCACCCCCCAACACATGGAATTTTTGGTTCATTATAAAATTGTCCCTCCCTCCCCTGCTGTGACCTTGTGGGGTATGAGAAACCTAGGCACTCATGGCCCCCTGGAGGGGCAGGGCAGGCAGGGCTGGGGCTGAGGAGGGCTGGGAGTGGGGCAGAGCGGGTGGGTCAGAGGGGTACAAGAGGCAGAGAACAGGGAGGGAGACAAGGCTTTACTTCCTAAGCGATTGTAATAGAAAAGTTCCTGGGTGTTAAGGCCAAAGCCTCAATTCAAATATAAATTCCCCAGAATGGAGGTGACCCCCTTAACTTCCCCCTCCCTCCCCCTACCACCACTTTGCCCAGAGCTTAGAAACCCACAGAGACAGGGAATAGCCCCTAGCCCTGGGCACCCACCCACCCCCACCATTTTTAAAAAAAAGAAATTAAAGTTTTATACAAAATGTGGGGAGGGAAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAGCCCCCAGCGGGGCCCCCACCCCCTTCGAGGCGACAGTCTTCACTCCAGCGCCGCTTAAAGCGTAGCTTGAGGGGCATGCACTGGGATGCCCCGGGTGCCTCGCCGGGCTCAGGCTTAGGGGGTGCAGGTGGGGCACGGGGCGTCTTGAACACCTCCCCGTCTTCCTCATCCTCATCACTGATGTCAGTCACCTCTACCTCCTCCGACTCGCCTTCCGAGATGGGCTCCACCTTGATCTGTGGTGGCGGGGGCGGTGGGGCTAGCGCCCCTGCCCCCTCAGCCAGCCCGCCTGCACTGCCACCGCTCTTGTCAGCACCGGCTACGGCCTTCTCCCCAGCTGCCCGCTGCCGGCGTCCGAGTGGGGGCGGCTGGAGCTTAAACTTGAATGGGGAGGAAGAAGAAGAAGAGGATGACGAGGCCGAGGAGGGGACCGGTGGGGTCTCGGGTGCCATGGGCGGCAGCGGGCACTTGTCAGGGCGCTGGGGCTGGGGCACCACCAGCCCAGGGTAGTGCAGGAAGGCGCGGGGGCTGAGGTGGTAGTTGTAGACGCTTTGGGTGTGGGCCTGCAGGTACCGTTTCATGTCCTCAGGGCTGAAGGAGAAGTGGGAGCCTCCCCGAGCCGCTGGGCCCCCCGCCACCACTGGGGTACATCGGGCTCAGCGTGGGCGAGGGAGTGTAGGCCAGGTGGGTGGGCGTCATGGGCAGAGCCGGGGAGAGCTGAGGGGGCAGCAGGGATCCAGGACCGGCCAGAGGCGACACAGGGAAGGGGCTGAGGGGTTCAGGGCCACCCCGAGGCCGGGGATAGACTCGGAAGACACCAGGGTCATGGGGCAGGCGGGCCAGCGGGGGCCCTCGGAAGGCACCCAGATCCGGAGGGCCGGGTGGTCGGGCGCGGGGATCCTCTCCCAGCGGTTCCTCCAGCTCTGACGTGCCATCACTACAGTCACTGACTGAGCCTCGGCCCAGGCGGCGGGCCACCACAGCCGAGAAGAGGGAAGATGAAGATGAAGAGCAGGCTGGTGGTGAGCGGGGGTCCTCGGTGGGGGACAGCACCTCGGAGGGCGTTGAGGGAGGGAAGCGGAAGTGGCTACCACCCGACGGCACTGGCGGGGCACTCTGGGGCACTGCACCCCCTGGCAGAAGGGAGACAGTGTCAAGGCCCCTGGCCTAGCCTGAAGGGGCATGTAGACCCTCTCCACACCAACCATCCCTGGTACTCACCAGCCAACCCCACATCAATGAATGGGTAATTGACCAGCACCAGTTTGTTGAAATTGAACTTGTAGGTGAACCGTTTCCCCTTGGTCTTGTGCAGAATGCGCTTGTTATAGTAATAGCTGTGGGTACAGAAATGCCATTGGGAAGGTCAGGTACGTGGGACCCAGGTCTAGACTCCACACCTTAACACGCACTTAGGTGTGGTTCCCAAAGGCCAACTGAGGAACGTAGGCCACAAAAGACAAATCAAGTGCCCAGAGGGTGGGTACCAGCTCTCTCCTCACATCTAAGGCAGGACTAGAGGATCCACTGGTGACTGTAATCTCTCCTCAGGATACGTCTGTGTTACCAAGGGGCTCAGGGAAGGGCTGGGAGTGGCCCAAGGTCACACAGCTAGGATTTGGCAAAGCCAGGGGTCAGACCCAATGCTTGTTCCCACAGGCAAGGGGCTGTGCAACCCCGGGGGGGCACTCCACATGTGCTCAGGGGTCCCCAGCCCGTCCTCACCGCAGGGCCCGGCTCAGCTTGTCGTAATTCATCTGGGGCTTGCACTTGCGAACGCCCCACAGCCGGGCCACCTCATCAGGGTCTTTGATGACGAATTCCCCGTAGTCCCCCTGCCAGGCAATGACGCCCTGGTACTCCTCCTTCCGCAGCAGCTCCAGGATAAAGTGCCACAGCTGGATCTGCCTTGAGCCAGGGGACGACTCTGGCTTGTAGGCCCAATCCGGGAAGGCAAACCCTGGGGACGGGAGGCAGGGAGTGGCCTGGGGTCAGGCTGCCAAGTCCAGGGCTCTGGGTCCCATCCCAGGGTCCACCTCTGCCCTGCCTTCAACATGGGGAAATCTGTCTCACCTCAGCCAAGTCAAGATCTGATTTAAGAGAAGACAGTGCGTGTCTGTCTGTCTGCATGTGAGGGGCTAGACAGGAGCTGGGGGGGAGGGGAAGCTGGAGCCCGCTCCAGCGACACCGGGAGAAACAGGAAACCGTCGGCGGTGGGTCCCGGGGCCAGTGCCAGGGGGCCAGGCACCAAGCCAGGCTGGCGGGCAGGGCTGCCAGTGGGGGAGGGGCAGGAAGGGGCACACGTGGCCAGCCGGGTTGGGGTACAGCCCCCCAGCTTACCCCCACTCCCATTCAGAGCCAGTTGCACCACCCCAGCTCCTCGGATGTCCTCCTTAGAAACATGCACTGTCTCCTCCGAAGACCCAACAGAGCCCCTACTCCCAACCCCAAGACCTGAGAGGAAGATTTTTTTTTTTTTTCTTAAAAGGACCAGGAGGGGTGGGGTGACTCGGTTGCCGATGAGGTCAGCGCTTGCACACACAGAGGCTTCTGTCTTCCCTGGAGAGTGAAACCCAGACTGTCTGAGAGGCCCCCCAAGCCCTGGACCCTCTGAGCTACACTGCCCTCCCCAGACCCAGGCATCCAGGCCCCACCTGGCTGNN
|
pathogenic
| 305,717 |
Located at chromosome 19 position 42249544, the variant affecting gene ERF (ETS2 repressor factor)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Craniosynostosis_4', 'TWIST1-related_craniosynostosis']
|
CCTCCTTCAGAATCAAGCAAAAGCTGTGGCCCTCAGGGGGCTGCACCGAGCACCTAGGACATTGATCACTGCATCCAAAGGTCCAAAGTTTTATTGTTTTGAATACATTCTCCAGCGGCCCCTCTACTCCCCCCACCCTCAGTCCCCAATACAGAATAAGGCTTGACCACAGCCCCCCACCCCACCCCAGAGGCCCCAGCTGGGAGGCAGAGGGGGCTTCCAGTTTGGTTTCAGGGCACCCCCTTCCCATCCCCCCACCCGCCTGCCCATGGGCCAGTCCTAGGAGCAGCTGGGGATGAAGGGGTTGGACCGGTGCTGGGGTGGGGAGTGGGAGAGGGATAGCAGGCACTTGTAGAGATTTGTGGCCCATGGGCGGCACCCCTCACCCTCCTCCGCCCCCCACCCCCCAACACATGGAATTTTTGGTTCATTATAAAATTGTCCCTCCCTCCCCTGCTGTGACCTTGTGGGGTATGAGAAACCTAGGCACTCATGGCCCCCTGGAGGGGCAGGGCAGGCAGGGCTGGGGCTGAGGAGGGCTGGGAGTGGGGCAGAGCGGGTGGGTCAGAGGGGTACAAGAGGCAGAGAACAGGGAGGGAGACAAGGCTTTACTTCCTAAGCGATTGTAATAGAAAAGTTCCTGGGTGTTAAGGCCAAAGCCTCAATTCAAATATAAATTCCCCAGAATGGAGGTGACCCCCTTAACTTCCCCCTCCCTCCCCCTACCACCACTTTGCCCAGAGCTTAGAAACCCACAGAGACAGGGAATAGCCCCTAGCCCTGGGCACCCACCCACCCCCACCATTTTTAAAAAAAAGAAATTAAAGTTTTATACAAAATGTGGGGAGGGAAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAGCCCCCAGCGGGGCCCCCACCCCCTTCGAGGCGACAGTCTTCACTCCAGCGCCGCTTAAAGCGTAGCTTGAGGGGCATGCACTGGGATGCCCCGGGTGCCTCGCCGGGCTCAGGCTTAGGGGGTGCAGGTGGGGCACGGGGCGTCTTGAACACCTCCCCGTCTTCCTCATCCTCATCACTGATGTCAGTCACCTCTACCTCCTCCGACTCGCCTTCCGAGATGGGCTCCACCTTGATCTGTGGTGGCGGGGGCGGTGGGGCTAGCGCCCCTGCCCCCTCAGCCAGCCCGCCTGCACTGCCACCGCTCTTGTCAGCACCGGCTACGGCCTTCTCCCCAGCTGCCCGCTGCCGGCGTCCGAGTGGGGGCGGCTGGAGCTTAAACTTGAATGGGGAGGAAGAAGAAGAAGAGGATGACGAGGCCGAGGAGGGGACCGGTGGGGTCTCGGGTGCCATGGGCGGCAGCGGGCACTTGTCAGGGCGCTGGGGCTGGGGCACCACCAGCCCAGGGTAGTGCAGGAAGGCGCGGGGGCTGAGGTGGTAGTTGTAGACGCTTTGGGTGTGGGCCTGCAGGTACCGTTTCATGTCCTCAGGGCTGAAGGAGAAGTGGGAGCCTCCCCCTGAGCCGCTGGGCCCCCCGCCACCACTGGGGTACATCGGGCTCAGCGTGGGCGAGGGAGTGTAGGCCAGGTGGGTGGGCGTCATGGGCAGAGCCGGGGAGAGCTGAGGGGGCAGCAGGGATCCAGGACCGGCCAGAGGCGACACAGGGAAGGGGCTGAGGGGTTCAGGGCCACCCCGAGGCCGGGGATAGACTCGGAAGACACCAGGGTCATGGGGCAGGCGGGCCAGCGGGGGCCCTCGGAAGGCACCCAGATCCGGAGGGCCGGGTGGTCGGGCGCGGGGATCCTCTCCCAGCGGTTCCTCCAGCTCTGACGTGCCATCACTACAGTCACTGACTGAGCCTCGGCCCAGGCGGCGGGCCACCACAGCCGAGAAGAGGGAAGATGAAGATGAAGAGCAGGCTGGTGGTGAGCGGGGGTCCTCGGTGGGGGACAGCACCTCGGAGGGCGTTGAGGGAGGGAAGCGGAAGTGGCTACCACCCGACGGCACTGGCGGGGCACTCTGGGGCACTGCACCCCCTGGCAGAAGGGAGACAGTGTCAAGGCCCCTGGCCTAGCCTGAAGGGGCATGTAGACCCTCTCCACACCAACCATCCCTGGTACTCACCAGCCAACCCCACATCAATGAATGGGTAATTGACCAGCACCAGTTTGTTGAAATTGAACTTGTAGGTGAACCGTTTCCCCTTGGTCTTGTGCAGAATGCGCTTGTTATAGTAATAGCTGTGGGTACAGAAATGCCATTGGGAAGGTCAGGTACGTGGGACCCAGGTCTAGACTCCACACCTTAACACGCACTTAGGTGTGGTTCCCAAAGGCCAACTGAGGAACGTAGGCCACAAAAGACAAATCAAGTGCCCAGAGGGTGGGTACCAGCTCTCTCCTCACATCTAAGGCAGGACTAGAGGATCCACTGGTGACTGTAATCTCTCCTCAGGATACGTCTGTGTTACCAAGGGGCTCAGGGAAGGGCTGGGAGTGGCCCAAGGTCACACAGCTAGGATTTGGCAAAGCCAGGGGTCAGACCCAATGCTTGTTCCCACAGGCAAGGGGCTGTGCAACCCCGGGGGGGCACTCCACATGTGCTCAGGGGTCCCCAGCCCGTCCTCACCGCAGGGCCCGGCTCAGCTTGTCGTAATTCATCTGGGGCTTGCACTTGCGAACGCCCCACAGCCGGGCCACCTCATCAGGGTCTTTGATGACGAATTCCCCGTAGTCCCCCTGCCAGGCAATGACGCCCTGGTACTCCTCCTTCCGCAGCAGCTCCAGGATAAAGTGCCACAGCTGGATCTGCCTTGAGCCAGGGGACGACTCTGGCTTGTAGGCCCAATCCGGGAAGGCAAACCCTGGGGACGGGAGGCAGGGAGTGGCCTGGGGTCAGGCTGCCAAGTCCAGGGCTCTGGGTCCCATCCCAGGGTCCACCTCTGCCCTGCCTTCAACATGGGGAAATCTGTCTCACCTCAGCCAAGTCAAGATCTGATTTAAGAGAAGACAGTGCGTGTCTGTCTGTCTGCATGTGAGGGGCTAGACAGGAGCTGGGGGGGAGGGGAAGCTGGAGCCCGCTCCAGCGACACCGGGAGAAACAGGAAACCGTCGGCGGTGGGTCCCGGGGCCAGTGCCAGGGGGCCAGGCACCAAGCCAGGCTGGCGGGCAGGGCTGCCAGTGGGGGAGGGGCAGGAAGGGGCACACGTGGCCAGCCGGGTTGGGGTACAGCCCCCCAGCTTACCCCCACTCCCATTCAGAGCCAGTTGCACCACCCCAGCTCCTCGGATGTCCTCCTTAGAAACATGCACTGTCTCCTCCGAAGACCCAACAGAGCCCCTACTCCCAACCCCAAGACCTGAGAGGAAGATTTTTTTTTTTTTTCTTAAAAGGACCAGGAGGGGTGGGGTGACTCGGTTGCCGATGAGGTCAGCGCTTGCACACACAGAGGCTTCTGTCTTCCCTGGAGAGTGAAACCCAGACTGTCTGAGAGGCCCCCCAAGCCCTGGACCCTCTGAGCTACACTGCCCTCCCCAGACCCAGGCATCCAGGCCCCACCTGGCTGGAGGGCCCAGCCCAGGCCTGGAGCTTGAGCAGGCACCCTGGAGCTGTCACCCTCTTCCCACTTCTGCCTTCTCATCTTCAGCTCCTTCCCTGCCCACCTGCCTGCCCACCCCCAGCATTAACCTTGGGTAGAGGTTGGCGGTGGGCTGGCTGGTCTCTGGAGGGGGTGGGCAGCCTGGGGTGGGGGGTGGGGGGTGGGGGGACTGCGGTTGTTGTCATTTCCCAACAACAGGGGCCATCAATAATTCAGCACCAGGCAGCCGGTAATGGAGGGGTGGGAGGAGGGAAAGGGGAGGAAGGGAAGGAGTGGGGAGGCAGAGCAGGGT
|
CCTCCTTCAGAATCAAGCAAAAGCTGTGGCCCTCAGGGGGCTGCACCGAGCACCTAGGACATTGATCACTGCATCCAAAGGTCCAAAGTTTTATTGTTTTGAATACATTCTCCAGCGGCCCCTCTACTCCCCCCACCCTCAGTCCCCAATACAGAATAAGGCTTGACCACAGCCCCCCACCCCACCCCAGAGGCCCCAGCTGGGAGGCAGAGGGGGCTTCCAGTTTGGTTTCAGGGCACCCCCTTCCCATCCCCCCACCCGCCTGCCCATGGGCCAGTCCTAGGAGCAGCTGGGGATGAAGGGGTTGGACCGGTGCTGGGGTGGGGAGTGGGAGAGGGATAGCAGGCACTTGTAGAGATTTGTGGCCCATGGGCGGCACCCCTCACCCTCCTCCGCCCCCCACCCCCCAACACATGGAATTTTTGGTTCATTATAAAATTGTCCCTCCCTCCCCTGCTGTGACCTTGTGGGGTATGAGAAACCTAGGCACTCATGGCCCCCTGGAGGGGCAGGGCAGGCAGGGCTGGGGCTGAGGAGGGCTGGGAGTGGGGCAGAGCGGGTGGGTCAGAGGGGTACAAGAGGCAGAGAACAGGGAGGGAGACAAGGCTTTACTTCCTAAGCGATTGTAATAGAAAAGTTCCTGGGTGTTAAGGCCAAAGCCTCAATTCAAATATAAATTCCCCAGAATGGAGGTGACCCCCTTAACTTCCCCCTCCCTCCCCCTACCACCACTTTGCCCAGAGCTTAGAAACCCACAGAGACAGGGAATAGCCCCTAGCCCTGGGCACCCACCCACCCCCACCATTTTTAAAAAAAAGAAATTAAAGTTTTATACAAAATGTGGGGAGGGAAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAGCCCCCAGCGGGGCCCCCACCCCCTTCGAGGCGACAGTCTTCACTCCAGCGCCGCTTAAAGCGTAGCTTGAGGGGCATGCACTGGGATGCCCCGGGTGCCTCGCCGGGCTCAGGCTTAGGGGGTGCAGGTGGGGCACGGGGCGTCTTGAACACCTCCCCGTCTTCCTCATCCTCATCACTGATGTCAGTCACCTCTACCTCCTCCGACTCGCCTTCCGAGATGGGCTCCACCTTGATCTGTGGTGGCGGGGGCGGTGGGGCTAGCGCCCCTGCCCCCTCAGCCAGCCCGCCTGCACTGCCACCGCTCTTGTCAGCACCGGCTACGGCCTTCTCCCCAGCTGCCCGCTGCCGGCGTCCGAGTGGGGGCGGCTGGAGCTTAAACTTGAATGGGGAGGAAGAAGAAGAAGAGGATGACGAGGCCGAGGAGGGGACCGGTGGGGTCTCGGGTGCCATGGGCGGCAGCGGGCACTTGTCAGGGCGCTGGGGCTGGGGCACCACCAGCCCAGGGTAGTGCAGGAAGGCGCGGGGGCTGAGGTGGTAGTTGTAGACGCTTTGGGTGTGGGCCTGCAGGTACCGTTTCATGTCCTCAGGGCTGAAGGAGAAGTGGGAGCCTCCCCCTGAGCCGCTGGGCCCCCCGCCACCACTGGGGTACATCGGGCTCAGCGTGGGCGAGGGAGTGTAGGCCAGGTGGGTGGGCGTCATGGGCAGAGCCGGGGAGAGCTGAGGGGGCAGCAGGGATCCAGGACCGGCCAGAGGCGACACAGGGAAGGGGCTGAGGGGTTCAGGGCCACCCCGAGGCCGGGGATAGACTCGGAAGACACCAGGGTCATGGGGCAGGCGGGCCAGCGGGGGCCCTCGGAAGGCACCCAGATCCGGAGGGCCGGGTGGTCGGGCGCGGGGATCCTCTCCCAGCGGTTCCTCCAGCTCTGACGTGCCATCACTAGTCACTGACTGAGCCTCGGCCCAGGCGGCGGGCCACCACAGCCGAGAAGAGGGAAGATGAAGATGAAGAGCAGGCTGGTGGTGAGCGGGGGTCCTCGGTGGGGGACAGCACCTCGGAGGGCGTTGAGGGAGGGAAGCGGAAGTGGCTACCACCCGACGGCACTGGCGGGGCACTCTGGGGCACTGCACCCCCTGGCAGAAGGGAGACAGTGTCAAGGCCCCTGGCCTAGCCTGAAGGGGCATGTAGACCCTCTCCACACCAACCATCCCTGGTACTCACCAGCCAACCCCACATCAATGAATGGGTAATTGACCAGCACCAGTTTGTTGAAATTGAACTTGTAGGTGAACCGTTTCCCCTTGGTCTTGTGCAGAATGCGCTTGTTATAGTAATAGCTGTGGGTACAGAAATGCCATTGGGAAGGTCAGGTACGTGGGACCCAGGTCTAGACTCCACACCTTAACACGCACTTAGGTGTGGTTCCCAAAGGCCAACTGAGGAACGTAGGCCACAAAAGACAAATCAAGTGCCCAGAGGGTGGGTACCAGCTCTCTCCTCACATCTAAGGCAGGACTAGAGGATCCACTGGTGACTGTAATCTCTCCTCAGGATACGTCTGTGTTACCAAGGGGCTCAGGGAAGGGCTGGGAGTGGCCCAAGGTCACACAGCTAGGATTTGGCAAAGCCAGGGGTCAGACCCAATGCTTGTTCCCACAGGCAAGGGGCTGTGCAACCCCGGGGGGGCACTCCACATGTGCTCAGGGGTCCCCAGCCCGTCCTCACCGCAGGGCCCGGCTCAGCTTGTCGTAATTCATCTGGGGCTTGCACTTGCGAACGCCCCACAGCCGGGCCACCTCATCAGGGTCTTTGATGACGAATTCCCCGTAGTCCCCCTGCCAGGCAATGACGCCCTGGTACTCCTCCTTCCGCAGCAGCTCCAGGATAAAGTGCCACAGCTGGATCTGCCTTGAGCCAGGGGACGACTCTGGCTTGTAGGCCCAATCCGGGAAGGCAAACCCTGGGGACGGGAGGCAGGGAGTGGCCTGGGGTCAGGCTGCCAAGTCCAGGGCTCTGGGTCCCATCCCAGGGTCCACCTCTGCCCTGCCTTCAACATGGGGAAATCTGTCTCACCTCAGCCAAGTCAAGATCTGATTTAAGAGAAGACAGTGCGTGTCTGTCTGTCTGCATGTGAGGGGCTAGACAGGAGCTGGGGGGGAGGGGAAGCTGGAGCCCGCTCCAGCGACACCGGGAGAAACAGGAAACCGTCGGCGGTGGGTCCCGGGGCCAGTGCCAGGGGGCCAGGCACCAAGCCAGGCTGGCGGGCAGGGCTGCCAGTGGGGGAGGGGCAGGAAGGGGCACACGTGGCCAGCCGGGTTGGGGTACAGCCCCCCAGCTTACCCCCACTCCCATTCAGAGCCAGTTGCACCACCCCAGCTCCTCGGATGTCCTCCTTAGAAACATGCACTGTCTCCTCCGAAGACCCAACAGAGCCCCTACTCCCAACCCCAAGACCTGAGAGGAAGATTTTTTTTTTTTTTCTTAAAAGGACCAGGAGGGGTGGGGTGACTCGGTTGCCGATGAGGTCAGCGCTTGCACACACAGAGGCTTCTGTCTTCCCTGGAGAGTGAAACCCAGACTGTCTGAGAGGCCCCCCAAGCCCTGGACCCTCTGAGCTACACTGCCCTCCCCAGACCCAGGCATCCAGGCCCCACCTGGCTGGAGGGCCCAGCCCAGGCCTGGAGCTTGAGCAGGCACCCTGGAGCTGTCACCCTCTTCCCACTTCTGCCTTCTCATCTTCAGCTCCTTCCCTGCCCACCTGCCTGCCCACCCCCAGCATTAACCTTGGGTAGAGGTTGGCGGTGGGCTGGCTGGTCTCTGGAGGGGGTGGGCAGCCTGGGGTGGGGGGTGGGGGGTGGGGGGACTGCGGTTGTTGTCATTTCCCAACAACAGGGGCCATCAATAATTCAGCACCAGGCAGCCGGTAATGGAGGGGTGGGAGGAGGGAAAGGGGAGGAAGGGAAGGAGTGGGGAGGCAGAGCAGGGTNN
|
pathogenic
| 305,725 |
The mutation in gene ERF (ETS2 repressor factor) at chromosome 19, position 42249704—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic
|
GCTTGACCACAGCCCCCCACCCCACCCCAGAGGCCCCAGCTGGGAGGCAGAGGGGGCTTCCAGTTTGGTTTCAGGGCACCCCCTTCCCATCCCCCCACCCGCCTGCCCATGGGCCAGTCCTAGGAGCAGCTGGGGATGAAGGGGTTGGACCGGTGCTGGGGTGGGGAGTGGGAGAGGGATAGCAGGCACTTGTAGAGATTTGTGGCCCATGGGCGGCACCCCTCACCCTCCTCCGCCCCCCACCCCCCAACACATGGAATTTTTGGTTCATTATAAAATTGTCCCTCCCTCCCCTGCTGTGACCTTGTGGGGTATGAGAAACCTAGGCACTCATGGCCCCCTGGAGGGGCAGGGCAGGCAGGGCTGGGGCTGAGGAGGGCTGGGAGTGGGGCAGAGCGGGTGGGTCAGAGGGGTACAAGAGGCAGAGAACAGGGAGGGAGACAAGGCTTTACTTCCTAAGCGATTGTAATAGAAAAGTTCCTGGGTGTTAAGGCCAAAGCCTCAATTCAAATATAAATTCCCCAGAATGGAGGTGACCCCCTTAACTTCCCCCTCCCTCCCCCTACCACCACTTTGCCCAGAGCTTAGAAACCCACAGAGACAGGGAATAGCCCCTAGCCCTGGGCACCCACCCACCCCCACCATTTTTAAAAAAAAGAAATTAAAGTTTTATACAAAATGTGGGGAGGGAAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAGCCCCCAGCGGGGCCCCCACCCCCTTCGAGGCGACAGTCTTCACTCCAGCGCCGCTTAAAGCGTAGCTTGAGGGGCATGCACTGGGATGCCCCGGGTGCCTCGCCGGGCTCAGGCTTAGGGGGTGCAGGTGGGGCACGGGGCGTCTTGAACACCTCCCCGTCTTCCTCATCCTCATCACTGATGTCAGTCACCTCTACCTCCTCCGACTCGCCTTCCGAGATGGGCTCCACCTTGATCTGTGGTGGCGGGGGCGGTGGGGCTAGCGCCCCTGCCCCCTCAGCCAGCCCGCCTGCACTGCCACCGCTCTTGTCAGCACCGGCTACGGCCTTCTCCCCAGCTGCCCGCTGCCGGCGTCCGAGTGGGGGCGGCTGGAGCTTAAACTTGAATGGGGAGGAAGAAGAAGAAGAGGATGACGAGGCCGAGGAGGGGACCGGTGGGGTCTCGGGTGCCATGGGCGGCAGCGGGCACTTGTCAGGGCGCTGGGGCTGGGGCACCACCAGCCCAGGGTAGTGCAGGAAGGCGCGGGGGCTGAGGTGGTAGTTGTAGACGCTTTGGGTGTGGGCCTGCAGGTACCGTTTCATGTCCTCAGGGCTGAAGGAGAAGTGGGAGCCTCCCCCTGAGCCGCTGGGCCCCCCGCCACCACTGGGGTACATCGGGCTCAGCGTGGGCGAGGGAGTGTAGGCCAGGTGGGTGGGCGTCATGGGCAGAGCCGGGGAGAGCTGAGGGGGCAGCAGGGATCCAGGACCGGCCAGAGGCGACACAGGGAAGGGGCTGAGGGGTTCAGGGCCACCCCGAGGCCGGGGATAGACTCGGAAGACACCAGGGTCATGGGGCAGGCGGGCCAGCGGGGGCCCTCGGAAGGCACCCAGATCCGGAGGGCCGGGTGGTCGGGCGCGGGGATCCTCTCCCAGCGGTTCCTCCAGCTCTGACGTGCCATCACTACAGTCACTGACTGAGCCTCGGCCCAGGCGGCGGGCCACCACAGCCGAGAAGAGGGAAGATGAAGATGAAGAGCAGGCTGGTGGTGAGCGGGGGTCCTCGGTGGGGGACAGCACCTCGGAGGGCGTTGAGGGAGGGAAGCGGAAGTGGCTACCACCCGACGGCACTGGCGGGGCACTCTGGGGCACTGCACCCCCTGGCAGAAGGGAGACAGTGTCAAGGCCCCTGGCCTAGCCTGAAGGGGCATGTAGACCCTCTCCACACCAACCATCCCTGGTACTCACCAGCCAACCCCACATCAATGAATGGGTAATTGACCAGCACCAGTTTGTTGAAATTGAACTTGTAGGTGAACCGTTTCCCCTTGGTCTTGTGCAGAATGCGCTTGTTATAGTAATAGCTGTGGGTACAGAAATGCCATTGGGAAGGTCAGGTACGTGGGACCCAGGTCTAGACTCCACACCTTAACACGCACTTAGGTGTGGTTCCCAAAGGCCAACTGAGGAACGTAGGCCACAAAAGACAAATCAAGTGCCCAGAGGGTGGGTACCAGCTCTCTCCTCACATCTAAGGCAGGACTAGAGGATCCACTGGTGACTGTAATCTCTCCTCAGGATACGTCTGTGTTACCAAGGGGCTCAGGGAAGGGCTGGGAGTGGCCCAAGGTCACACAGCTAGGATTTGGCAAAGCCAGGGGTCAGACCCAATGCTTGTTCCCACAGGCAAGGGGCTGTGCAACCCCGGGGGGGCACTCCACATGTGCTCAGGGGTCCCCAGCCCGTCCTCACCGCAGGGCCCGGCTCAGCTTGTCGTAATTCATCTGGGGCTTGCACTTGCGAACGCCCCACAGCCGGGCCACCTCATCAGGGTCTTTGATGACGAATTCCCCGTAGTCCCCCTGCCAGGCAATGACGCCCTGGTACTCCTCCTTCCGCAGCAGCTCCAGGATAAAGTGCCACAGCTGGATCTGCCTTGAGCCAGGGGACGACTCTGGCTTGTAGGCCCAATCCGGGAAGGCAAACCCTGGGGACGGGAGGCAGGGAGTGGCCTGGGGTCAGGCTGCCAAGTCCAGGGCTCTGGGTCCCATCCCAGGGTCCACCTCTGCCCTGCCTTCAACATGGGGAAATCTGTCTCACCTCAGCCAAGTCAAGATCTGATTTAAGAGAAGACAGTGCGTGTCTGTCTGTCTGCATGTGAGGGGCTAGACAGGAGCTGGGGGGGAGGGGAAGCTGGAGCCCGCTCCAGCGACACCGGGAGAAACAGGAAACCGTCGGCGGTGGGTCCCGGGGCCAGTGCCAGGGGGCCAGGCACCAAGCCAGGCTGGCGGGCAGGGCTGCCAGTGGGGGAGGGGCAGGAAGGGGCACACGTGGCCAGCCGGGTTGGGGTACAGCCCCCCAGCTTACCCCCACTCCCATTCAGAGCCAGTTGCACCACCCCAGCTCCTCGGATGTCCTCCTTAGAAACATGCACTGTCTCCTCCGAAGACCCAACAGAGCCCCTACTCCCAACCCCAAGACCTGAGAGGAAGATTTTTTTTTTTTTTCTTAAAAGGACCAGGAGGGGTGGGGTGACTCGGTTGCCGATGAGGTCAGCGCTTGCACACACAGAGGCTTCTGTCTTCCCTGGAGAGTGAAACCCAGACTGTCTGAGAGGCCCCCCAAGCCCTGGACCCTCTGAGCTACACTGCCCTCCCCAGACCCAGGCATCCAGGCCCCACCTGGCTGGAGGGCCCAGCCCAGGCCTGGAGCTTGAGCAGGCACCCTGGAGCTGTCACCCTCTTCCCACTTCTGCCTTCTCATCTTCAGCTCCTTCCCTGCCCACCTGCCTGCCCACCCCCAGCATTAACCTTGGGTAGAGGTTGGCGGTGGGCTGGCTGGTCTCTGGAGGGGGTGGGCAGCCTGGGGTGGGGGGTGGGGGGTGGGGGGACTGCGGTTGTTGTCATTTCCCAACAACAGGGGCCATCAATAATTCAGCACCAGGCAGCCGGTAATGGAGGGGTGGGAGGAGGGAAAGGGGAGGAAGGGAAGGAGTGGGGAGGCAGAGCAGGGTCCCTGGTGCCACTAGAGAGAGAAGGCCAAGGTGGCCAGCTAAAGATGGGCGGCTCCCAAATCCAGTCAGGCTGCAGGGGTCAATCCGCCTCCCTTGGCCCCAGCTCAAACAGGTACCAACAAGGCCTCCAGGCAACACATCCACCCTCAAAGACTCCACC
|
GCTTGACCACAGCCCCCCACCCCACCCCAGAGGCCCCAGCTGGGAGGCAGAGGGGGCTTCCAGTTTGGTTTCAGGGCACCCCCTTCCCATCCCCCCACCCGCCTGCCCATGGGCCAGTCCTAGGAGCAGCTGGGGATGAAGGGGTTGGACCGGTGCTGGGGTGGGGAGTGGGAGAGGGATAGCAGGCACTTGTAGAGATTTGTGGCCCATGGGCGGCACCCCTCACCCTCCTCCGCCCCCCACCCCCCAACACATGGAATTTTTGGTTCATTATAAAATTGTCCCTCCCTCCCCTGCTGTGACCTTGTGGGGTATGAGAAACCTAGGCACTCATGGCCCCCTGGAGGGGCAGGGCAGGCAGGGCTGGGGCTGAGGAGGGCTGGGAGTGGGGCAGAGCGGGTGGGTCAGAGGGGTACAAGAGGCAGAGAACAGGGAGGGAGACAAGGCTTTACTTCCTAAGCGATTGTAATAGAAAAGTTCCTGGGTGTTAAGGCCAAAGCCTCAATTCAAATATAAATTCCCCAGAATGGAGGTGACCCCCTTAACTTCCCCCTCCCTCCCCCTACCACCACTTTGCCCAGAGCTTAGAAACCCACAGAGACAGGGAATAGCCCCTAGCCCTGGGCACCCACCCACCCCCACCATTTTTAAAAAAAAGAAATTAAAGTTTTATACAAAATGTGGGGAGGGAAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAGCCCCCAGCGGGGCCCCCACCCCCTTCGAGGCGACAGTCTTCACTCCAGCGCCGCTTAAAGCGTAGCTTGAGGGGCATGCACTGGGATGCCCCGGGTGCCTCGCCGGGCTCAGGCTTAGGGGGTGCAGGTGGGGCACGGGGCGTCTTGAACACCTCCCCGTCTTCCTCATCCTCATCACTGATGTCAGTCACCTCTACCTCCTCCGACTCGCCTTCCGAGATGGGCTCCACCTTGATCTGTGGTGGCGGGGGCGGTGGGGCTAGCGCCCCTGCCCCCTCAGCCAGCCCGCCTGCACTGCCACCGCTCTTGTCAGCACCGGCTACGGCCTTCTCCCCAGCTGCCCGCTGCCGGCGTCCGAGTGGGGGCGGCTGGAGCTTAAACTTGAATGGGGAGGAAGAAGAAGAAGAGGATGACGAGGCCGAGGAGGGGACCGGTGGGGTCTCGGGTGCCATGGGCGGCAGCGGGCACTTGTCAGGGCGCTGGGGCTGGGGCACCACCAGCCCAGGGTAGTGCAGGAAGGCGCGGGGGCTGAGGTGGTAGTTGTAGACGCTTTGGGTGTGGGCCTGCAGGTACCGTTTCATGTCCTCAGGGCTGAAGGAGAAGTGGGAGCCTCCCCCTGAGCCGCTGGGCCCCCCGCCACCACTGGGGTACATCGGGCTCAGCGTGGGCGAGGGAGTGTAGGCCAGGTGGGTGGGCGTCATGGGCAGAGCCGGGGAGAGCTGAGGGGGCAGCAGGGATCCAGGACCGGCCAGAGGCGACACAGGGAAGGGGCTGAGGGGTTCAGGGCCACCCCGAGGCCGGGGATAGACTCGGAAGACACCAGGGTCATGGGGCAGGCGGGCCAGCGGGGGCCCTCGGAAGGCACCCAGATCCGGAGGGCCGGGTGGTCGGGCGCGGGGATCCTCTCCCAGCGGTTCCTCCAGCTCTGACGTGCCATCACTACAGTCACTGACTGAGCCTCGGCCCAGGCGGCGGGCCACCACAGCCGAGAAGAGGGAAGATGAAGATGAAGAGCAGGCTGGTGGTGAGCGGGGGTCCTCGGTGGGGGACAGCACCTCGGAGGGCGTTGAGGGAGGGAAGCGGAAGTGGCTACCACCCGACGGCACTCTGGGGCACTGCACCCCCTGGCAGAAGGGAGACAGTGTCAAGGCCCCTGGCCTAGCCTGAAGGGGCATGTAGACCCTCTCCACACCAACCATCCCTGGTACTCACCAGCCAACCCCACATCAATGAATGGGTAATTGACCAGCACCAGTTTGTTGAAATTGAACTTGTAGGTGAACCGTTTCCCCTTGGTCTTGTGCAGAATGCGCTTGTTATAGTAATAGCTGTGGGTACAGAAATGCCATTGGGAAGGTCAGGTACGTGGGACCCAGGTCTAGACTCCACACCTTAACACGCACTTAGGTGTGGTTCCCAAAGGCCAACTGAGGAACGTAGGCCACAAAAGACAAATCAAGTGCCCAGAGGGTGGGTACCAGCTCTCTCCTCACATCTAAGGCAGGACTAGAGGATCCACTGGTGACTGTAATCTCTCCTCAGGATACGTCTGTGTTACCAAGGGGCTCAGGGAAGGGCTGGGAGTGGCCCAAGGTCACACAGCTAGGATTTGGCAAAGCCAGGGGTCAGACCCAATGCTTGTTCCCACAGGCAAGGGGCTGTGCAACCCCGGGGGGGCACTCCACATGTGCTCAGGGGTCCCCAGCCCGTCCTCACCGCAGGGCCCGGCTCAGCTTGTCGTAATTCATCTGGGGCTTGCACTTGCGAACGCCCCACAGCCGGGCCACCTCATCAGGGTCTTTGATGACGAATTCCCCGTAGTCCCCCTGCCAGGCAATGACGCCCTGGTACTCCTCCTTCCGCAGCAGCTCCAGGATAAAGTGCCACAGCTGGATCTGCCTTGAGCCAGGGGACGACTCTGGCTTGTAGGCCCAATCCGGGAAGGCAAACCCTGGGGACGGGAGGCAGGGAGTGGCCTGGGGTCAGGCTGCCAAGTCCAGGGCTCTGGGTCCCATCCCAGGGTCCACCTCTGCCCTGCCTTCAACATGGGGAAATCTGTCTCACCTCAGCCAAGTCAAGATCTGATTTAAGAGAAGACAGTGCGTGTCTGTCTGTCTGCATGTGAGGGGCTAGACAGGAGCTGGGGGGGAGGGGAAGCTGGAGCCCGCTCCAGCGACACCGGGAGAAACAGGAAACCGTCGGCGGTGGGTCCCGGGGCCAGTGCCAGGGGGCCAGGCACCAAGCCAGGCTGGCGGGCAGGGCTGCCAGTGGGGGAGGGGCAGGAAGGGGCACACGTGGCCAGCCGGGTTGGGGTACAGCCCCCCAGCTTACCCCCACTCCCATTCAGAGCCAGTTGCACCACCCCAGCTCCTCGGATGTCCTCCTTAGAAACATGCACTGTCTCCTCCGAAGACCCAACAGAGCCCCTACTCCCAACCCCAAGACCTGAGAGGAAGATTTTTTTTTTTTTTCTTAAAAGGACCAGGAGGGGTGGGGTGACTCGGTTGCCGATGAGGTCAGCGCTTGCACACACAGAGGCTTCTGTCTTCCCTGGAGAGTGAAACCCAGACTGTCTGAGAGGCCCCCCAAGCCCTGGACCCTCTGAGCTACACTGCCCTCCCCAGACCCAGGCATCCAGGCCCCACCTGGCTGGAGGGCCCAGCCCAGGCCTGGAGCTTGAGCAGGCACCCTGGAGCTGTCACCCTCTTCCCACTTCTGCCTTCTCATCTTCAGCTCCTTCCCTGCCCACCTGCCTGCCCACCCCCAGCATTAACCTTGGGTAGAGGTTGGCGGTGGGCTGGCTGGTCTCTGGAGGGGGTGGGCAGCCTGGGGTGGGGGGTGGGGGGTGGGGGGACTGCGGTTGTTGTCATTTCCCAACAACAGGGGCCATCAATAATTCAGCACCAGGCAGCCGGTAATGGAGGGGTGGGAGGAGGGAAAGGGGAGGAAGGGAAGGAGTGGGGAGGCAGAGCAGGGTCCCTGGTGCCACTAGAGAGAGAAGGCCAAGGTGGCCAGCTAAAGATGGGCGGCTCCCAAATCCAGTCAGGCTGCAGGGGTCAATCCGCCTCCCTTGGCCCCAGCTCAAACAGGTACCAACAAGGCCTCCAGGCAACACATCCACCCTCAAAGACTCCACCNNNNNNNNNNN
|
pathogenic
| 305,728 |
Variant chromosome 19, position 42349479, gene MEGF8 (multiple EGF like domains 8): benign or pathogenic? Disease(s)?
|
benign
|
CCTTAGCCTCCCAAGTAGCTGGGATTACAAACATGCACCACCATGCCTGGCTGTTTTTTGTATTTTTTTTGTTTGTTTTGAGACGGAGTTTTGCTCTTGTTGCACAGGCTGGAGTGCAATGGCGCAATCTCGGCTCAGTGCAACCTCTGCCTCCCGGGTTTGAACGATTCTCCTGCCTCAGGCTCCCAAGTAGCTGGGATTACAAGTGCACGCTACCACTCCCGGCTAATTTTTTGTATTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCCCGCCGTGCCCAGCCTTCATTCTTCTTTTTTTTTTTAAGTTGTATAATATTCCATTTACATTTGTAGTTTATTTAAATAGCCTCCCACTGGTGAACACTTGGACTGTTCCACTCTTCTGCTATTACAAAATCACACACCAGGAAAATAAATCTTGCACTTTGTCTGCCACTTTGAATATTAGATCTGGGCTTTGAAGTGCTTAGCTGGAAAGGTGAGGAGTTGGATAAGAAGACACTGAAGTGTCCAGTCCTGGAGTTTTAATGTGAGATGGAAATGGCTAGAGGCCAGGGGTAAAGGTGGGCTCTGGGACCCTGTCGTCTATTGTCTGAATTTAGGTCTTGCCTCTTTTCCCAGAGTGACCTTTGACAAGCCACCTAACCCCTGTCCCTCTGCCTCAGTCTCTCATTTGGTAAAATGGGGAAGAAGGTTGGGTTGACCAGTCTTTTCTGGCTCTGATGTGGCCTGTGAGTCCAGAAAGGGACTCACACATACACCCATCCCTGGTGGCACAGGTCTCAATTGTCCGCAGCACGACCATCACCCTAACACCCAGCGCAGAGACAGATGTGTCCCTGGTCTACCGTGGCTTCATCTACCCAATGCTGCCTGGAGGGCCAGGTGGACCAGGGGCTGAGGACGTGGCCGTGTGGACGCGGGCCCAGCGCCTACACGTCCTGGCCCGGATGGCCCGTGGCCCTGACACGGAGAACATGGTGAGGCCGCCTGGGACATTCAGGGGGTTGTTTATGGTAAATAGGGAGTTAGGGGTGTGGTATAGAGCATCTGTGGTGATTTGAAGGTTCTGGGGAAGGGCTGGGGAGAAATTAGAGGCAGGAGATGGATTTTTTGTGTGTGTGTAAGACAGAGTCTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCTACCTTCACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCACGTAGCTGGGATTACAGATGTGCATCAGCACTCCTGGCTAATTTTTTTGCATTTTAAGTAAAGATGGGTTTTCACCATGTTGGCCAGGCTGGTTTGGAACTCCTGACCTCAGATGATCCGCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCGCCTGGCTGGGAATGGATCTTTCGTAGAGGAGGGAGGGTGCTGAGGTTTTCAATTGTGAGCAGAATTTGAGGGAAACTTTGAAGCAGGTGAGGAAGGTCTGAGTCAGACTTGAAAGGCCCCTGAAGGCTGGGCATGGAGGTGTACACCTGTAATCCCAGCCCTTTGGGAGGTAGGGGCAGGTGGATTGCCTGAACCCAGAAGTTTGGGACTAGCCTGGGAAACATGGCGAGACATCATCTCTCCAAAAAATACAAAAATTAGCTGGCCATGGTAGCATGCACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAAGTTGAGGCTGCAGTGAGCCATGATCGCATCACTGCACTTCAGCCTGAGTGATGGAATGAGACCCTGTCTCAAGAAAAAAAAAAAAAAAAAAGCCCCTGAGGAGGAGGGTCCCTGGGGGTCTCACCTCTGAGGTTCTCAGGATCTAAGGAGCTCTGAGGCCCTCTTCTTAGGAGGGGGTGGGGTACAGGGTGGGTTTGGAGGTATCAGGGGTCTGAGGAAGGAATGGGAAGGGTTCTGAGGCCCCTGCCTATCACTCACACCTACCCCAGGAGGAGGTGGGGCGCTGGGTGGCTCATCAGGAGAAGGAGACGCGGCGGCTGCAGCGCCCTGGGTCTGCTCGCCTCTTCCCTCTGCCTGGGCGGGACCACAAGTATGCAGTAGAGATCCAGGGCCAGCTCAATGGCTCGGCAGGCCCTGGGCACAGCGAGCTAACTCTGCTGTGGGATCGGACTGGTGTGCCAGGAGGCAGCGTGAGTACCCAGGACCTACCTCCAACCCTAGCCGCAGGCCCCAGCCTCAGATCACCTGGGCTTTCTGAACCCCAGGCCACAAACTCTGAAATCCCTAGATTCTGGCCTCGGACTCCTTAACTCTTGGCCTCTGAACTCTGGACCTCCTCTTGAACCCTGTGGCCCCTGACCTCTGCCTATAGACCCTAACCTGATCCCATATTTTGACCCCCATCTTCTGACTCCTCACCCTTGACCCTGCTGACCCTGACCTCTGCCCTCCATACTTTGACCTATAATAATCTCCAGATTCCTCCAGACCTTGGACCTCTTTACTGATTTCCTAAATCCTGACTTCCTATGTGCCTGAGTTCTCAACCTGGGCTCCAAACCCTTACTTTCAGTTAGCGCCAGACTCTGACCCCTGCCCCAGACCTTGACTGCTGCCTTCCTGTGACCCCTTCCCCAGGAGATCTCCTTCTTCTTCCTGGAGCCCTACCGCTCGTCGTCCTGCACCTCCTATTCTTCCTGCCTGGGCTGCTTGGCAGACCAGGGCTGTGGCTGGTGCCTGACCAGTGCCACCTGCCACCTGCGCCAGGGCGGAGCCCATTGCGGGGATGACGGGGCTGGTGGGTCCCTGCTGGTGCTGGTGCCTACCCTCTGCCCACTCTGCGAGGAGCATCGGGACTGCCACGCCTGCACCCAGGTGCCTGTGGGGCCACCAGGGGAGGTCACAAGGTGGAGGGAGCCACAGCAGGCAATGGGCAGTCAAGGGAACCCCTGGTGGGGGGTGTGGGGGAAACAGCAAGGGCTTTTGGCCTTGATCTGCAGAGCCTGGTGGGGAGGGTGAGATGGAGCTGTAGAGAGAGGCACCTGGGGAGTCAGGACTCTCCCTGTTGTAGGGGCCAGAGAATGCAACTCCATCCTTTTCCACTAGCGGGGAGTTTCTCAGCATAGGCACTGGAGCCCAGGAGTAGGCCTTCAGGCCTGCCACCTCCAAGTGATGTCAGGCAGCCCTCGACACCCTGCTTCCTCTTGTTCCCTGGGAGGGTTTGTTTCCTTGTGAGTGGCAAGGGAGCCGTTAAGGGTCCAGGCTCTAAGTCCCTGCTCTGTCTCAAACAGAGTGAGGCTTCCTATTTCTCTCCCCCCACCCCACCACCATCCAGGAGCTCAACAGAAGTCCCAGAATTGCACTTCTGTGGCTCTGGTTGGGCCTTGTACAGGCTCCTGGGCCAATGACTGGAGTTGTGGGGAGGGAATGTGGCCCCTTGCCCACCTCTGGATCCTGAGGATTGAATAAGCCCCACCCGGACCACACAGAAGGGGTGCTATTGCCTAAAGGAGACAGTGGGTGCTGGGCGGGCCGACCCATGGGTGTCTGTGGTCGAAGGGAGGGGTCCAGAGACGCAGGCAGCTGGGGAGGGAGATGGCCTTACAGGGACAGTCTGCAGGGTGGGGCAGGGGGTGGGATGGGCACTGGGAGTCCAAAGGAAAGGGCTGAGTGGGGTTCTGACTCCTCTGCCCAACTGACCCCCAGGACCCCTTCTGTGAGTGGCATCAGAGCACCAGCCGCAAAGGGGACGCGGCATGCAGCCGGCGGGGCCGGGGTCGGGGTGCCCTGAAGAGTCCAGAGGAGTGTCCCCCGCTCTGCAGCCAGTGAGTCAGGCTGGGTGCAGGGAGTGGGTGGGTGGATGTGCCTGGGGATGTGTGCTGGCTGTGGAGTGACCTGGCCCCCTGCTCCCCACCCCAGGCGACTGACCTGTGAGGACTGCCTGGCCAACTCTAGCCAGTGCGCCTGGTGCCAGTCCACCCACACCTGCTTCCTGTTTGCTGCCTACTTGGCCCGGT
|
CCTTAGCCTCCCAAGTAGCTGGGATTACAAACATGCACCACCATGCCTGGCTGTTTTTTGTATTTTTTTTGTTTGTTTTGAGACGGAGTTTTGCTCTTGTTGCACAGGCTGGAGTGCAATGGCGCAATCTCGGCTCAGTGCAACCTCTGCCTCCCGGGTTTGAACGATTCTCCTGCCTCAGGCTCCCAAGTAGCTGGGATTACAAGTGCACGCTACCACTCCCGGCTAATTTTTTGTATTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCCCGCCGTGCCCAGCCTTCATTCTTCTTTTTTTTTTTAAGTTGTATAATATTCCATTTACATTTGTAGTTTATTTAAATAGCCTCCCACTGGTGAACACTTGGACTGTTCCACTCTTCTGCTATTACAAAATCACACACCAGGAAAATAAATCTTGCACTTTGTCTGCCACTTTGAATATTAGATCTGGGCTTTGAAGTGCTTAGCTGGAAAGGTGAGGAGTTGGATAAGAAGACACTGAAGTGTCCAGTCCTGGAGTTTTAATGTGAGATGGAAATGGCTAGAGGCCAGGGGTAAAGGTGGGCTCTGGGACCCTGTCGTCTATTGTCTGAATTTAGGTCTTGCCTCTTTTCCCAGAGTGACCTTTGACAAGCCACCTAACCCCTGTCCCTCTGCCTCAGTCTCTCATTTGGTAAAATGGGGAAGAAGGTTGGGTTGACCAGTCTTTTCTGGCTCTGATGTGGCCTGTGAGTCCAGAAAGGGACTCACACATACACCCATCCCTGGTGGCACAGGTCTCAATTGTCCGCAGCACGACCATCACCCTAACACCCAGCGCAGAGACAGATGTGTCCCTGGTCTACCGTGGCTTCATCTACCCAATGCTGCCTGGAGGGCCAGGTGGACCAGGGGCTGAGGACGTGGCCGTGTGGACGCGGGCCCAGCGCCTACACGTCCTGGCCCGGATGGCCCGTGGCCCTGACACGGAGAACATGGTGAGGCCGCCTGGGACATTCAGGGGGTTGTTTATGGTAAATAGGGAGTTAGGGGTGTGGTATAGAGCATCTGTGGTGATTTGAAGGTTCTGGGGAAGGGCTGGGGAGAAATTAGAGGCAGGAGATGGATTTTTTGTGTGTGTGTAAGACAGAGTCTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCTACCTTCACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCACGTAGCTGGGATTACAGATGTGCATCAGCACTCCTGGCTAATTTTTTTGCATTTTAAGTAAAGATGGGTTTTCACCATGTTGGCCAGGCTGGTTTGGAACTCCTGACCTCAGATGATCCGCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCGCCTGGCTGGGAATGGATCTTTCGTAGAGGAGGGAGGGTGCTGAGGTTTTCAATTGTGAGCAGAATTTGAGGGAAACTTTGAAGCAGGTGAGGAAGGTCTGAGTCAGACTTGAAAGGCCCCTGAAGGCTGGGCATGGAGGTGTACACCTGTAATCCCAGCCCTTTGGGAGGTAGGGGCAGGTGGATTGCCTGAACCCAGAAGTTTGGGACTAGCCTGGGAAACATGGCGAGACATCATCTCTCCAAAAAATACAAAAATTAGCTGGCCATGGTAGCATGCACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAAGTTGAGGCTGCAGTGAGCCATGATCGCATCACTGCACTTCAGCCTGAGTGATGGAATGAGACCCTGTCTCAAGAAAAAAAAAAAAAAAAAAGCCCCTGAGGAGGAGGGTCCCTGGGGGTCTCACCTCTGAGGTTCTCAGGATCTAAGGAGCTCTGAGGCCCTCTTCTTAGGAGGGGGTGGGGTACAGGGTGGGTTTGGAGGTATCAGGGGTCTGAGGAAGGAATGGGAAGGGTTCTGAGGCCCCTGCCTATCACACCTACCCCAGGAGGAGGTGGGGCGCTGGGTGGCTCATCAGGAGAAGGAGACGCGGCGGCTGCAGCGCCCTGGGTCTGCTCGCCTCTTCCCTCTGCCTGGGCGGGACCACAAGTATGCAGTAGAGATCCAGGGCCAGCTCAATGGCTCGGCAGGCCCTGGGCACAGCGAGCTAACTCTGCTGTGGGATCGGACTGGTGTGCCAGGAGGCAGCGTGAGTACCCAGGACCTACCTCCAACCCTAGCCGCAGGCCCCAGCCTCAGATCACCTGGGCTTTCTGAACCCCAGGCCACAAACTCTGAAATCCCTAGATTCTGGCCTCGGACTCCTTAACTCTTGGCCTCTGAACTCTGGACCTCCTCTTGAACCCTGTGGCCCCTGACCTCTGCCTATAGACCCTAACCTGATCCCATATTTTGACCCCCATCTTCTGACTCCTCACCCTTGACCCTGCTGACCCTGACCTCTGCCCTCCATACTTTGACCTATAATAATCTCCAGATTCCTCCAGACCTTGGACCTCTTTACTGATTTCCTAAATCCTGACTTCCTATGTGCCTGAGTTCTCAACCTGGGCTCCAAACCCTTACTTTCAGTTAGCGCCAGACTCTGACCCCTGCCCCAGACCTTGACTGCTGCCTTCCTGTGACCCCTTCCCCAGGAGATCTCCTTCTTCTTCCTGGAGCCCTACCGCTCGTCGTCCTGCACCTCCTATTCTTCCTGCCTGGGCTGCTTGGCAGACCAGGGCTGTGGCTGGTGCCTGACCAGTGCCACCTGCCACCTGCGCCAGGGCGGAGCCCATTGCGGGGATGACGGGGCTGGTGGGTCCCTGCTGGTGCTGGTGCCTACCCTCTGCCCACTCTGCGAGGAGCATCGGGACTGCCACGCCTGCACCCAGGTGCCTGTGGGGCCACCAGGGGAGGTCACAAGGTGGAGGGAGCCACAGCAGGCAATGGGCAGTCAAGGGAACCCCTGGTGGGGGGTGTGGGGGAAACAGCAAGGGCTTTTGGCCTTGATCTGCAGAGCCTGGTGGGGAGGGTGAGATGGAGCTGTAGAGAGAGGCACCTGGGGAGTCAGGACTCTCCCTGTTGTAGGGGCCAGAGAATGCAACTCCATCCTTTTCCACTAGCGGGGAGTTTCTCAGCATAGGCACTGGAGCCCAGGAGTAGGCCTTCAGGCCTGCCACCTCCAAGTGATGTCAGGCAGCCCTCGACACCCTGCTTCCTCTTGTTCCCTGGGAGGGTTTGTTTCCTTGTGAGTGGCAAGGGAGCCGTTAAGGGTCCAGGCTCTAAGTCCCTGCTCTGTCTCAAACAGAGTGAGGCTTCCTATTTCTCTCCCCCCACCCCACCACCATCCAGGAGCTCAACAGAAGTCCCAGAATTGCACTTCTGTGGCTCTGGTTGGGCCTTGTACAGGCTCCTGGGCCAATGACTGGAGTTGTGGGGAGGGAATGTGGCCCCTTGCCCACCTCTGGATCCTGAGGATTGAATAAGCCCCACCCGGACCACACAGAAGGGGTGCTATTGCCTAAAGGAGACAGTGGGTGCTGGGCGGGCCGACCCATGGGTGTCTGTGGTCGAAGGGAGGGGTCCAGAGACGCAGGCAGCTGGGGAGGGAGATGGCCTTACAGGGACAGTCTGCAGGGTGGGGCAGGGGGTGGGATGGGCACTGGGAGTCCAAAGGAAAGGGCTGAGTGGGGTTCTGACTCCTCTGCCCAACTGACCCCCAGGACCCCTTCTGTGAGTGGCATCAGAGCACCAGCCGCAAAGGGGACGCGGCATGCAGCCGGCGGGGCCGGGGTCGGGGTGCCCTGAAGAGTCCAGAGGAGTGTCCCCCGCTCTGCAGCCAGTGAGTCAGGCTGGGTGCAGGGAGTGGGTGGGTGGATGTGCCTGGGGATGTGTGCTGGCTGTGGAGTGACCTGGCCCCCTGCTCCCCACCCCAGGCGACTGACCTGTGAGGACTGCCTGGCCAACTCTAGCCAGTGCGCCTGGTGCCAGTCCACCCACACCTGCTTCCTGTTTGCTGCCTACTTGGCCCGGTNNNN
|
benign
| 305,792 |
A genetic variant at chromosome 19, position 43507952, affecting gene ETHE1 (ETHE1 persulfide dioxygenase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Ethylmalonic_encephalopathy']
|
AAAAAAAATGTAGCCAACATCTACACATGTTGTAAGTGGTAAAATGCAGGCTTCATTCTCTCAAAAGTCCATGTTCTTAACCATTGCGTATACTGTCACTACAAGCCAGGAAGTACCCAAAAGATCATTCTAAATGATAGTAACTTTAATGGTGAACACTGATAGGCCATGTGCCAGGCACTCACACACATTGACTCATCAGAGCATCACAACACCCCATTATTATTCCTTCCATTTTAGAGATAAGAAAACTGAGGCCTAGAGAAGTGAAGTAACTTACCCCAGGGCTAAGTGGGAAGTGGCTCAAAAGCAAGCCGGTGTTCTAATCCAAGGTGATGAGAAGACCTGCCCCAGATAGCTGTGTTTGTTTTTGATCTTGTGAGTTAGAAATCTTGTGGGCTCCCGGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACGAGGTCAGGAGATCAAGATCATATTGGCTAACATGGTCAAACCCTGTCTCTACTAAAAATATGAAAAAATTAGCCGGGCATGGTGGCACGCGCCTGTAGTCCCAGCTACTTGGGAAGCTGATGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAATGGAGGGAGACTCCATCTCAAAAAAAAAAAGAAAAGAAAAAGAAAACAAATCTTGCAGGCTCCCTGGCCTCTCCATAGGACCAGAACCCCACCCCTTTCGGCCCAGAAACCCAATTGGTTCCCCCAGAAAATAGGTAGAAGTCAGACTCACGTTAAAAAAAGTTTTATTTAGGGAGCTCCAGGGAATGCGGTGGGAAAGGAGAGGTGCAGTGTCATTGCCGCCCTCTCCTCCCACCTAGTGCATTAATAGTGGATGGGAGCATCTGACAGAAGTGAGATCAGGCAGTGGGTGTCTGCACCCCACAGCGCATGTTGGCTGGAACAGCAAAGTCTGAAAGGAAGAAATCAAGGTTAAAACTAAGGGGCCTAGGTAGAGTTCCAGGCCCCACTGGAGACCCAGAAATCCTAGGAACCTTTCCTCTTCAGGAAACTAGAGTTTTGGTCCTGAGCCCACTCCTTCCCTCAGACCCAGGAGTCCAGTACCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCTTCCCTCAGACCCAGGAGCCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGTCCCCCAGCCCTTCCTTCCTCAGACCCAGGAGTCCAGTCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGTCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGTTCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGTCCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCTCCTCCTCCCCCAGTCCCTCCTCCCTCAGACCCAGGAGCCCAGGTCCCCAGTCCCTCCTCCCTCAGATCCAGGAGTCCAGGCCCCCAGTTCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGTTCTTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCAGCCCCTCCTCCTTCAGACCCAGGAGTCCAGGCCCCCAGCTCCTCCTCCCTCAGACCCAGGACCCCAGGCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCCAGCCCAGCCCCTACTCCCTCAGAGCCAGGAGTCCAGGCCCCCAGCCCCTACTGCCTCAGACCCAGGAGTCCAGTCCCCCAGCCCCTCCTCCCTTAGACCCAGGAGTCCAGGCCCCCAGCCTCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCTCTCAGACCCAGGAGTCCAAGACCCCAGCCCCTCCTCTCTCAGACCCAGAAGTCCAGGTCCCCAGCTGCTCACCTATCTGCTGAGGTTTAGGCAAGTTCAGGTTGCCCATGATTTTGACAAACTCCTCACAGCTGAGGGTGAGCCGAGGGTTCAGAGTCCTCTCCTCCTCCACGGTGGACACTGTGAACCCTAGGGGCCAAGGGAGGGGAAGGAAAGTCAAGGAGTCTAGTGCCTCAGGCCTCTCAGAACTACATTCCCCAGGAGGCCTTGGGTGCCTCTCTGGCAGGGGCTCTTCCCAGAATATTCCTAAAATTGCTTTCCCTCCTCCATGGACACTATGGGAAATTTAGTTTTCCCCCAGTTCCCTAAGCTCCACAAGTAAGGCCCAGGAAAACCCATGCCCTGCAGAATTCTAGGCATCTGGCAGTCACATAGTTTCTACATCCACACACAGCAGGCTCAAGCACTTTATCTCTTTTTTTTTTTTTTTTTTTGAGACAGGGGCTTGCTGTGTCACCCAGGCTGGAATATAGTGGTACAATCATAGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGCAATCCTTCTACCACAGCCTCCCAAGTAGCTGGCAGCATGCCACCATGCCTGGCTAATTTCTTGTATTTTGTAGAGGCAGGGTTTTGCCATGTTACTCCAGCTGGTCTCGAACTCACTCCTGGGCTCAAATGAGCCTCCTGCCTTGGCCTCCCAAAGTGCTAGGATTACAAGTGTGAGCCCCCTTGCCCAGCCTCAAACACTTAATTTTTTTTGGCCAGAGAAATTTCTGAGACTGGTCGTCTTCATGCCCTACAAGGATTACAGAGATTTACACTCCACTTTCAAAGTTATGTACGCCCCACACCTCTTCCAGGAAGCCCTCACCATGGTAATCGTGAGCAGGGTAGATCAGACAGTCTCCTGGAAGTGTGAAGATCTTTTCATGGACCGAGTGGTACAAGGTCTTGGCACAGCCTGGGGAAGGAAAGATCAGAGGTCAGTGGATCAACAGGACAGAAGACTCTAACCCCTTCCTTCAAGAAAAGGGTAGGAGGATAAAATCACTATAGCTAAACCCTCTCCTTCGTGTCCTGCCAATATCCCTTTGTCTAAGTAGAGAACAGGGAAAGGCATTCTAGGCAGATGGAACAGCATATACAAAGAATTGAGGAATGTCAAGAAATTCAGCATGGCTGTAAATAGGGTTGGAATGACACCGTGAAGCACCAAAGAGTGTCATTTGTGACCTTGGCTGTCACCCAGGGGATGTCAAGTAAGGGTTCTGAACAAGGAAGGTGGACTAGAAGGTAAGAAACTGAAGACAAAGCCAGGTGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACCCATGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCCCTCCAGCCTGGGAGATAGAGCGCGGCTCTGTCTCAAGAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCTGGCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAGAAGAAGAAGAAGAAAGAAACTGCAGACATGAGGACATGAGGCCCAGGAGGAGAGTGTGAAGCCATGGTCCCCACAAGCAGCTCTGAGTCCTAAGTAGGGGGCAAACCTCTATTCCACCTTGCATTTCGGCCTAAATCCTTCAGCTTCCTGACTGTACTGTGAATGGATAAATGGGAGATTGGGAGCCTTGGAGAG
|
AAAAAAAATGTAGCCAACATCTACACATGTTGTAAGTGGTAAAATGCAGGCTTCATTCTCTCAAAAGTCCATGTTCTTAACCATTGCGTATACTGTCACTACAAGCCAGGAAGTACCCAAAAGATCATTCTAAATGATAGTAACTTTAATGGTGAACACTGATAGGCCATGTGCCAGGCACTCACACACATTGACTCATCAGAGCATCACAACACCCCATTATTATTCCTTCCATTTTAGAGATAAGAAAACTGAGGCCTAGAGAAGTGAAGTAACTTACCCCAGGGCTAAGTGGGAAGTGGCTCAAAAGCAAGCCGGTGTTCTAATCCAAGGTGATGAGAAGACCTGCCCCAGATAGCTGTGTTTGTTTTTGATCTTGTGAGTTAGAAATCTTGTGGGCTCCCGGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACGAGGTCAGGAGATCAAGATCATATTGGCTAACATGGTCAAACCCTGTCTCTACTAAAAATATGAAAAAATTAGCCGGGCATGGTGGCACGCGCCTGTAGTCCCAGCTACTTGGGAAGCTGATGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAATGGAGGGAGACTCCATCTCAAAAAAAAAAAGAAAAGAAAAAGAAAACAAATCTTGCAGGCTCCCTGGCCTCTCCATAGGACCAGAACCCCACCCCTTTCGGCCCAGAAACCCAATTGGTTCCCCCAGAAAATAGGTAGAAGTCAGACTCACGTTAAAAAAAGTTTTATTTAGGGAGCTCCAGGGAATGCGGTGGGAAAGGAGAGGTGCAGTGTCATTGCCGCCCTCTCCTCCCACCTAGTGCATTAATAGTGGATGGGAGCATCTGACAGAAGTGAGATCAGGCAGTGGGTGTCTGCACCCCACAGCGCATGTTGGCTGGAACAGCAAAGTCTGAAAGGAAGAAATCAAGGTTAAAACTAAGGGGCCTAGGTAGAGTTCCAGGCCCCACTGGAGACCCAGAAATCCTAGGAACCTTTCCTCTTCAGGAAACTAGAGTTTTGGTCCTGAGCCCACTCCTTCCCTCAGACCCAGGAGTCCAGTACCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCTTCCCTCAGACCCAGGAGCCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGTCCCCCAGCCCTTCCTTCCTCAGACCCAGGAGTCCAGTCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGTCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGTTCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGTCCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCTCCTCCTCCCCCAGTCCCTCCTCCCTCAGACCCAGGAGCCCAGGTCCCCAGTCCCTCCTCCCTCAGATCCAGGAGTCCAGGCCCCCAGTTCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGTTCTTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCAGCCCCTCCTCCTTCAGACCCAGGAGTCCAGGCCCCCAGCTCCTCCTCCCTCAGACCCAGGACCCCAGGCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCCAGCCCAGCCCCTACTCCCTCAGAGCCAGGAGTCCAGGCCCCCAGCCCCTACTGCCTCAGACCCAGGAGTCCAGTCCCCCAGCCCCTCCTCCCTTAGACCCAGGAGTCCAGGCCCCCAGCCTCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCTCTCAGACCCAGGAGTCCAAGACCCCAGCCCCTCCTCTCTCAGACCCAGAAGTCCAGGTCCCCAGCTGCTCACCTATCTGCTGGTTTAGGCAAGTTCAGGTTGCCCATGATTTTGACAAACTCCTCACAGCTGAGGGTGAGCCGAGGGTTCAGAGTCCTCTCCTCCTCCACGGTGGACACTGTGAACCCTAGGGGCCAAGGGAGGGGAAGGAAAGTCAAGGAGTCTAGTGCCTCAGGCCTCTCAGAACTACATTCCCCAGGAGGCCTTGGGTGCCTCTCTGGCAGGGGCTCTTCCCAGAATATTCCTAAAATTGCTTTCCCTCCTCCATGGACACTATGGGAAATTTAGTTTTCCCCCAGTTCCCTAAGCTCCACAAGTAAGGCCCAGGAAAACCCATGCCCTGCAGAATTCTAGGCATCTGGCAGTCACATAGTTTCTACATCCACACACAGCAGGCTCAAGCACTTTATCTCTTTTTTTTTTTTTTTTTTTGAGACAGGGGCTTGCTGTGTCACCCAGGCTGGAATATAGTGGTACAATCATAGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGCAATCCTTCTACCACAGCCTCCCAAGTAGCTGGCAGCATGCCACCATGCCTGGCTAATTTCTTGTATTTTGTAGAGGCAGGGTTTTGCCATGTTACTCCAGCTGGTCTCGAACTCACTCCTGGGCTCAAATGAGCCTCCTGCCTTGGCCTCCCAAAGTGCTAGGATTACAAGTGTGAGCCCCCTTGCCCAGCCTCAAACACTTAATTTTTTTTGGCCAGAGAAATTTCTGAGACTGGTCGTCTTCATGCCCTACAAGGATTACAGAGATTTACACTCCACTTTCAAAGTTATGTACGCCCCACACCTCTTCCAGGAAGCCCTCACCATGGTAATCGTGAGCAGGGTAGATCAGACAGTCTCCTGGAAGTGTGAAGATCTTTTCATGGACCGAGTGGTACAAGGTCTTGGCACAGCCTGGGGAAGGAAAGATCAGAGGTCAGTGGATCAACAGGACAGAAGACTCTAACCCCTTCCTTCAAGAAAAGGGTAGGAGGATAAAATCACTATAGCTAAACCCTCTCCTTCGTGTCCTGCCAATATCCCTTTGTCTAAGTAGAGAACAGGGAAAGGCATTCTAGGCAGATGGAACAGCATATACAAAGAATTGAGGAATGTCAAGAAATTCAGCATGGCTGTAAATAGGGTTGGAATGACACCGTGAAGCACCAAAGAGTGTCATTTGTGACCTTGGCTGTCACCCAGGGGATGTCAAGTAAGGGTTCTGAACAAGGAAGGTGGACTAGAAGGTAAGAAACTGAAGACAAAGCCAGGTGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACCCATGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCCCTCCAGCCTGGGAGATAGAGCGCGGCTCTGTCTCAAGAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCTGGCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAGAAGAAGAAGAAGAAAGAAACTGCAGACATGAGGACATGAGGCCCAGGAGGAGAGTGTGAAGCCATGGTCCCCACAAGCAGCTCTGAGTCCTAAGTAGGGGGCAAACCTCTATTCCACCTTGCATTTCGGCCTAAATCCTTCAGCTTCCTGACTGTACTGTGAATGGATAAATGGGAGATTGGGAGCCTTGGAGAGNN
|
pathogenic
| 305,930 |
Clinical significance of chromosome 19, position 43508051, gene ETHE1 (ETHE1 persulfide dioxygenase): benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Ethylmalonic_encephalopathy']
|
TACAAGCCAGGAAGTACCCAAAAGATCATTCTAAATGATAGTAACTTTAATGGTGAACACTGATAGGCCATGTGCCAGGCACTCACACACATTGACTCATCAGAGCATCACAACACCCCATTATTATTCCTTCCATTTTAGAGATAAGAAAACTGAGGCCTAGAGAAGTGAAGTAACTTACCCCAGGGCTAAGTGGGAAGTGGCTCAAAAGCAAGCCGGTGTTCTAATCCAAGGTGATGAGAAGACCTGCCCCAGATAGCTGTGTTTGTTTTTGATCTTGTGAGTTAGAAATCTTGTGGGCTCCCGGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACGAGGTCAGGAGATCAAGATCATATTGGCTAACATGGTCAAACCCTGTCTCTACTAAAAATATGAAAAAATTAGCCGGGCATGGTGGCACGCGCCTGTAGTCCCAGCTACTTGGGAAGCTGATGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAATGGAGGGAGACTCCATCTCAAAAAAAAAAAGAAAAGAAAAAGAAAACAAATCTTGCAGGCTCCCTGGCCTCTCCATAGGACCAGAACCCCACCCCTTTCGGCCCAGAAACCCAATTGGTTCCCCCAGAAAATAGGTAGAAGTCAGACTCACGTTAAAAAAAGTTTTATTTAGGGAGCTCCAGGGAATGCGGTGGGAAAGGAGAGGTGCAGTGTCATTGCCGCCCTCTCCTCCCACCTAGTGCATTAATAGTGGATGGGAGCATCTGACAGAAGTGAGATCAGGCAGTGGGTGTCTGCACCCCACAGCGCATGTTGGCTGGAACAGCAAAGTCTGAAAGGAAGAAATCAAGGTTAAAACTAAGGGGCCTAGGTAGAGTTCCAGGCCCCACTGGAGACCCAGAAATCCTAGGAACCTTTCCTCTTCAGGAAACTAGAGTTTTGGTCCTGAGCCCACTCCTTCCCTCAGACCCAGGAGTCCAGTACCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCTTCCCTCAGACCCAGGAGCCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGTCCCCCAGCCCTTCCTTCCTCAGACCCAGGAGTCCAGTCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGTCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGTTCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGTCCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCTCCTCCTCCCCCAGTCCCTCCTCCCTCAGACCCAGGAGCCCAGGTCCCCAGTCCCTCCTCCCTCAGATCCAGGAGTCCAGGCCCCCAGTTCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGTTCTTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCAGCCCCTCCTCCTTCAGACCCAGGAGTCCAGGCCCCCAGCTCCTCCTCCCTCAGACCCAGGACCCCAGGCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCCAGCCCAGCCCCTACTCCCTCAGAGCCAGGAGTCCAGGCCCCCAGCCCCTACTGCCTCAGACCCAGGAGTCCAGTCCCCCAGCCCCTCCTCCCTTAGACCCAGGAGTCCAGGCCCCCAGCCTCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCTCTCAGACCCAGGAGTCCAAGACCCCAGCCCCTCCTCTCTCAGACCCAGAAGTCCAGGTCCCCAGCTGCTCACCTATCTGCTGAGGTTTAGGCAAGTTCAGGTTGCCCATGATTTTGACAAACTCCTCACAGCTGAGGGTGAGCCGAGGGTTCAGAGTCCTCTCCTCCTCCACGGTGGACACTGTGAACCCTAGGGGCCAAGGGAGGGGAAGGAAAGTCAAGGAGTCTAGTGCCTCAGGCCTCTCAGAACTACATTCCCCAGGAGGCCTTGGGTGCCTCTCTGGCAGGGGCTCTTCCCAGAATATTCCTAAAATTGCTTTCCCTCCTCCATGGACACTATGGGAAATTTAGTTTTCCCCCAGTTCCCTAAGCTCCACAAGTAAGGCCCAGGAAAACCCATGCCCTGCAGAATTCTAGGCATCTGGCAGTCACATAGTTTCTACATCCACACACAGCAGGCTCAAGCACTTTATCTCTTTTTTTTTTTTTTTTTTTGAGACAGGGGCTTGCTGTGTCACCCAGGCTGGAATATAGTGGTACAATCATAGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGCAATCCTTCTACCACAGCCTCCCAAGTAGCTGGCAGCATGCCACCATGCCTGGCTAATTTCTTGTATTTTGTAGAGGCAGGGTTTTGCCATGTTACTCCAGCTGGTCTCGAACTCACTCCTGGGCTCAAATGAGCCTCCTGCCTTGGCCTCCCAAAGTGCTAGGATTACAAGTGTGAGCCCCCTTGCCCAGCCTCAAACACTTAATTTTTTTTGGCCAGAGAAATTTCTGAGACTGGTCGTCTTCATGCCCTACAAGGATTACAGAGATTTACACTCCACTTTCAAAGTTATGTACGCCCCACACCTCTTCCAGGAAGCCCTCACCATGGTAATCGTGAGCAGGGTAGATCAGACAGTCTCCTGGAAGTGTGAAGATCTTTTCATGGACCGAGTGGTACAAGGTCTTGGCACAGCCTGGGGAAGGAAAGATCAGAGGTCAGTGGATCAACAGGACAGAAGACTCTAACCCCTTCCTTCAAGAAAAGGGTAGGAGGATAAAATCACTATAGCTAAACCCTCTCCTTCGTGTCCTGCCAATATCCCTTTGTCTAAGTAGAGAACAGGGAAAGGCATTCTAGGCAGATGGAACAGCATATACAAAGAATTGAGGAATGTCAAGAAATTCAGCATGGCTGTAAATAGGGTTGGAATGACACCGTGAAGCACCAAAGAGTGTCATTTGTGACCTTGGCTGTCACCCAGGGGATGTCAAGTAAGGGTTCTGAACAAGGAAGGTGGACTAGAAGGTAAGAAACTGAAGACAAAGCCAGGTGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACCCATGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCCCTCCAGCCTGGGAGATAGAGCGCGGCTCTGTCTCAAGAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCTGGCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAGAAGAAGAAGAAGAAAGAAACTGCAGACATGAGGACATGAGGCCCAGGAGGAGAGTGTGAAGCCATGGTCCCCACAAGCAGCTCTGAGTCCTAAGTAGGGGGCAAACCTCTATTCCACCTTGCATTTCGGCCTAAATCCTTCAGCTTCCTGACTGTACTGTGAATGGATAAATGGGAGATTGGGAGCCTTGGAGAGAAAAAGACAGAGACTGAGATGCAGAGATAAGGAGAGAGGGAAGAGGGAGGAAGAGGCCTGGGGATGTGGCTTCCACGGCCATCTCATCATGGCTTCTGT
|
TACAAGCCAGGAAGTACCCAAAAGATCATTCTAAATGATAGTAACTTTAATGGTGAACACTGATAGGCCATGTGCCAGGCACTCACACACATTGACTCATCAGAGCATCACAACACCCCATTATTATTCCTTCCATTTTAGAGATAAGAAAACTGAGGCCTAGAGAAGTGAAGTAACTTACCCCAGGGCTAAGTGGGAAGTGGCTCAAAAGCAAGCCGGTGTTCTAATCCAAGGTGATGAGAAGACCTGCCCCAGATAGCTGTGTTTGTTTTTGATCTTGTGAGTTAGAAATCTTGTGGGCTCCCGGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACGAGGTCAGGAGATCAAGATCATATTGGCTAACATGGTCAAACCCTGTCTCTACTAAAAATATGAAAAAATTAGCCGGGCATGGTGGCACGCGCCTGTAGTCCCAGCTACTTGGGAAGCTGATGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAATGGAGGGAGACTCCATCTCAAAAAAAAAAAGAAAAGAAAAAGAAAACAAATCTTGCAGGCTCCCTGGCCTCTCCATAGGACCAGAACCCCACCCCTTTCGGCCCAGAAACCCAATTGGTTCCCCCAGAAAATAGGTAGAAGTCAGACTCACGTTAAAAAAAGTTTTATTTAGGGAGCTCCAGGGAATGCGGTGGGAAAGGAGAGGTGCAGTGTCATTGCCGCCCTCTCCTCCCACCTAGTGCATTAATAGTGGATGGGAGCATCTGACAGAAGTGAGATCAGGCAGTGGGTGTCTGCACCCCACAGCGCATGTTGGCTGGAACAGCAAAGTCTGAAAGGAAGAAATCAAGGTTAAAACTAAGGGGCCTAGGTAGAGTTCCAGGCCCCACTGGAGACCCAGAAATCCTAGGAACCTTTCCTCTTCAGGAAACTAGAGTTTTGGTCCTGAGCCCACTCCTTCCCTCAGACCCAGGAGTCCAGTACCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCTTCCCTCAGACCCAGGAGCCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGTCCCCCAGCCCTTCCTTCCTCAGACCCAGGAGTCCAGTCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGTCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGTTCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGTCCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCTCCTCCTCCCCCAGTCCCTCCTCCCTCAGACCCAGGAGCCCAGGTCCCCAGTCCCTCCTCCCTCAGATCCAGGAGTCCAGGCCCCCAGTTCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGTTCTTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCAGCCCCTCCTCCTTCAGACCCAGGAGTCCAGGCCCCCAGCTCCTCCTCCCTCAGACCCAGGACCCCAGGCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCCAGCCCAGCCCCTACTCCCTCAGAGCCAGGAGTCCAGGCCCCCAGCCCCTACTGCCTCAGACCCAGGAGTCCAGTCCCCCAGCCCCTCCTCCCTTAGACCCAGGAGTCCAGGCCCCCAGCCTCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCTCTCAGACCCAGGAGTCCAAGACCCCAGCCCCTCCTCTCTCAGACCCAGAAGTCCAGGTCCCCAGCTGCTCACCTATCTGCTGAGGTTTAGGCAAGTTCAGGTTGCCCATGATTTTGACAAACTCCTCACAGCTGAGGGTGAGCCGAGGGTTCAGAGTCCTCTCCTCCTCCACGGTGGACACCTGTGAACCCTAGGGGCCAAGGGAGGGGAAGGAAAGTCAAGGAGTCTAGTGCCTCAGGCCTCTCAGAACTACATTCCCCAGGAGGCCTTGGGTGCCTCTCTGGCAGGGGCTCTTCCCAGAATATTCCTAAAATTGCTTTCCCTCCTCCATGGACACTATGGGAAATTTAGTTTTCCCCCAGTTCCCTAAGCTCCACAAGTAAGGCCCAGGAAAACCCATGCCCTGCAGAATTCTAGGCATCTGGCAGTCACATAGTTTCTACATCCACACACAGCAGGCTCAAGCACTTTATCTCTTTTTTTTTTTTTTTTTTTGAGACAGGGGCTTGCTGTGTCACCCAGGCTGGAATATAGTGGTACAATCATAGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGCAATCCTTCTACCACAGCCTCCCAAGTAGCTGGCAGCATGCCACCATGCCTGGCTAATTTCTTGTATTTTGTAGAGGCAGGGTTTTGCCATGTTACTCCAGCTGGTCTCGAACTCACTCCTGGGCTCAAATGAGCCTCCTGCCTTGGCCTCCCAAAGTGCTAGGATTACAAGTGTGAGCCCCCTTGCCCAGCCTCAAACACTTAATTTTTTTTGGCCAGAGAAATTTCTGAGACTGGTCGTCTTCATGCCCTACAAGGATTACAGAGATTTACACTCCACTTTCAAAGTTATGTACGCCCCACACCTCTTCCAGGAAGCCCTCACCATGGTAATCGTGAGCAGGGTAGATCAGACAGTCTCCTGGAAGTGTGAAGATCTTTTCATGGACCGAGTGGTACAAGGTCTTGGCACAGCCTGGGGAAGGAAAGATCAGAGGTCAGTGGATCAACAGGACAGAAGACTCTAACCCCTTCCTTCAAGAAAAGGGTAGGAGGATAAAATCACTATAGCTAAACCCTCTCCTTCGTGTCCTGCCAATATCCCTTTGTCTAAGTAGAGAACAGGGAAAGGCATTCTAGGCAGATGGAACAGCATATACAAAGAATTGAGGAATGTCAAGAAATTCAGCATGGCTGTAAATAGGGTTGGAATGACACCGTGAAGCACCAAAGAGTGTCATTTGTGACCTTGGCTGTCACCCAGGGGATGTCAAGTAAGGGTTCTGAACAAGGAAGGTGGACTAGAAGGTAAGAAACTGAAGACAAAGCCAGGTGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACCCATGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCCCTCCAGCCTGGGAGATAGAGCGCGGCTCTGTCTCAAGAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCTGGCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAGAAGAAGAAGAAGAAAGAAACTGCAGACATGAGGACATGAGGCCCAGGAGGAGAGTGTGAAGCCATGGTCCCCACAAGCAGCTCTGAGTCCTAAGTAGGGGGCAAACCTCTATTCCACCTTGCATTTCGGCCTAAATCCTTCAGCTTCCTGACTGTACTGTGAATGGATAAATGGGAGATTGGGAGCCTTGGAGAGAAAAAGACAGAGACTGAGATGCAGAGATAAGGAGAGAGGGAAGAGGGAGGAAGAGGCCTGGGGATGTGGCTTCCACGGCCATCTCATCATGGCTTCTG
|
pathogenic
| 305,932 |
A genetic alteration at chromosome 19, position 43511553, in gene ETHE1 (ETHE1 persulfide dioxygenase)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Ethylmalonic_encephalopathy']
|
AAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCTGGCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAGAAGAAGAAGAAGAAAGAAACTGCAGACATGAGGACATGAGGCCCAGGAGGAGAGTGTGAAGCCATGGTCCCCACAAGCAGCTCTGAGTCCTAAGTAGGGGGCAAACCTCTATTCCACCTTGCATTTCGGCCTAAATCCTTCAGCTTCCTGACTGTACTGTGAATGGATAAATGGGAGATTGGGAGCCTTGGAGAGAAAAAGACAGAGACTGAGATGCAGAGATAAGGAGAGAGGGAAGAGGGAGGAAGAGGCCTGGGGATGTGGCTTCCACGGCCATCTCATCATGGCTTCTGTCTTTCCCTCTCATCCAGCCTCACCTCTCCCCACAAGACAGCTAAATTCCAGGCCTAGTGTTAACCCCACATTCACACACATGCTCAAAGGATGGCCCAACCCTGAGATTCTGAAACTATACTCGCTTTCTACAGGGAAGCTCCTAAATCTAACTGCCCCTAGCAGCTAGACTCCAAATGGATCATTCATTGCTCCCTGGCAATTAAACCGCTGGCTTTAACAACTTCTTTTTTTATCTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTAAATCTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCATGGCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCATGCCCAGCCCTTTGTTTTTTTTTTTTTTTTAGCTATATTTGTTTCTTAGAGAGGGAGTCTCACTATGTTGCCCAAGCTGGGCTCAAATAGGTAACTAACACACCCCTGAATCTAACTGTCCCCCAACAGCTAAGCCCCTGAATCTAACTCTTCCCATACTCTAGCATGGGGGTCCTTAACCCTGGGTACCGGTCCGTGGTCTGTTAGGAACTGGGCTGTGCAGAAGGTGGTGAGCGGTGGGTGAGTGAGCAAAGCTTCATCTGTAGTTACAGCCACTCCCCATCACTCCCGTTACCACCTGAGCTCTGCCTCCTGTCAGATCCGCAGCAGCATTAGATTCTCATAGGAGCACAAACTCTATTGCGAACTGCACATGCGAGGGATCTAGGTTGCGTTCTCCTTATGAGAATCTAATGCCTGATGATCTGTCACTATCTTCCGTCTCTCCCAGATGTGACCATCTAGTTGCAGGAAAACAAGTTCAGGGCTCCCACTGATTCTACATGATGGTGAGTTACATAATTATTTCATTATCTATTGCAATGTAATAATAAAGTGCACAATAAATGTAATGCATTTGAATCCCCGAAACTATGCCCTGCCATGGTCCATGGAAAAATTGTCTTCCACGAAACCGGTCCCTGGTGCCAAAAAGGTTGGGGACCACTGTTCTAGCAGGTAAACTCCTTGAATTTAATACTGAAGCCCCCTAAAAGTCTAATGTCCATCCATTCATTCTTGTAACAGATACTTCAACACTTGACACACACGTAACTATATGAAGATCTTGGGCTGGATAAAGGAGCTGGTCACCTTGCTGGAAGTCTGTCCGCCCACACCCACGGATCAACAGGGCATCTCCAGTGAAGGCCATGCTGTGGTCATTCAGGACGAAGGTGACACAGCCTGGGGTGTGGCCAGGGCTGGCCCTGGTCTCCAACGCCTGGCAGGGGTGGAAGAGTACAGAGATAGTCACCAAGAAGCCTTCTAGATGAAACTGGCCCCCAAAGCCCCACCCTACCCCAGGGTCTTATCTAGATAAACATTTTGGTAAAAAATGTAGATTCCCAGGCTGTAATCTTATATTATCAGAGTAAACTCCAAGTGGATTAAAGATTTAAATGCATGAAAAATAAAACCGCAAAGCTGTGACACACAACAACAAAAATACAAATAATATCTGACCTCTGGTTAGGAAGGTGATATGGTTTGGCTGTGTCCCCACCCAAATCTCATCTTGAATTGTAGCTCCCATAATCCTCATATGTCATGGGAGGGACCAGGCAGGAGGTAATTGAATAATGGGGGCAGGTTTTTCCCATGCTGTCTCGTGATGATGAATAAGTCTCACGAGATCTGATGGTTTTATAAAGGGCAGTTCCCCTGCACACTCTCTCTTGCCTGCTGCCATGTAAGACAGGTCTTTGCTCCTCCTTCGCCTTCCACCATGATTGTGAGGCCTCCCCAGCCATGTGGAACTATGAGTCCATTAAACCTCTTTTTCTTTATAAATGACCCAGTCTTAGGGATGTCTTTATTAGCAGCATGAGAAAAGACTAATACAGTAAATTGGTACCAGTAAAGTGGGGTGCTGCTATAAGGAGATGTGAAAATGTGACTTTGGAACTGGGTAACAAGCAGAGGTTTGAACAGTTTGGAAGGCTCAGAAGAAGACAGAAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTGAGTGGCTTTGACCAATATGCCGAGAGTGATATGAACAATGAAGTCCAGGCTGACATGGTCTTACATGGAGATGAGGAACTTTTTGGGAACTGGGGTAAAGGTCACTTTTGTTATGTGTTAGCAAAGAGACTGGCAGCATTTTGCCCCTGCCCTAGAGATCTGTGGAACTTTGAACTTGAGAGAGATGACTTAGGGTACCTAGTAGAAGAAATTTCTCAGCAGGAAAGCATTCAAGAGGTGACTTGAGTGCTGTTAAAAGCATTCAAGAGGTGACTTGAGTGCTGTTAAAAGCATTCACTTCAGTTTTATGTATTCACAATGATATGGTTTGGAATTGGAACCTATGTTTAAAAGGGAAATAGAGCATAAATGTTTGGAAAATTTGCAGCCTGACAATGTGATAGAAAAAAAAACCCATTTTCTGAGGAAAAATTCAAGCCTGCTGCAGAAATTTGTATAAGTAACGAGGAGCCAAATGTTAATCACCAAGACAATGGGAAAAATGTCTCCAGGGCATGTCAGAGGTTTTCACAGCAGCCTCTCCCAACACAGGTCCAAAGGACTAGGAGAAAAAATGGTTTCATGGGCAGGGCCCATGGCCTTGCTGTTTTGTGCAGTCTCAGGACTTGGTGCCCTGCATCCCAGTCGGGGCTAAAAGGGGCCAAGTACAGCTCAGGCCATTGCTTCAGAGGGTGCAAGCCCCAAGCCTTGGTGGCTTACACGTGGTGCTGGGCCTGCTGGTGAACAGAAGTCAAGAACAGAGGTTTGGGAGCCTCCAGCTAGATTTGAGAGGCTGTATGGAAATGCCTGGATGTCCAGGCAGAGGTGTGCTGCAGGGGTGAAGCCTTCATAGGGAACCTCTGCTAGGACAGTGCAGAAGGGAAATGTGGAGTGGGAGCCCCCACAGAGAGTTCCCACTGGGGCACTGCCCCTAGTGGAGCTGTGAGAAGAGGGCCATCGCCCTCCAGAACCCAGAGTGTTAGATCCACCGAGAGCTTGCACCATGTGCCTGGAAAAGCCACAGATACTCCACACCAGCCCGTGAAAGCAGCCAGGAGTGGGGCTGTACCCTGCAAAGCCAGAGGGGCAGAGCTGCCCAAGACCATGGGAACCCACCTCTTGCATCAGCATGACCTGGATTTGAGACATGGAGTAAAAGATCTTTTTGGAGCTTTAAGATTTGACTGCCCCACTGGATTTAGGACTTGCACGGAGCCTGCAGCCCCTTCATTTTGGCCAATTTCTTCCATTTAGAATGGA
|
AAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCTGGCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAGAAGAAGAAGAAGAAAGAAACTGCAGACATGAGGACATGAGGCCCAGGAGGAGAGTGTGAAGCCATGGTCCCCACAAGCAGCTCTGAGTCCTAAGTAGGGGGCAAACCTCTATTCCACCTTGCATTTCGGCCTAAATCCTTCAGCTTCCTGACTGTACTGTGAATGGATAAATGGGAGATTGGGAGCCTTGGAGAGAAAAAGACAGAGACTGAGATGCAGAGATAAGGAGAGAGGGAAGAGGGAGGAAGAGGCCTGGGGATGTGGCTTCCACGGCCATCTCATCATGGCTTCTGTCTTTCCCTCTCATCCAGCCTCACCTCTCCCCACAAGACAGCTAAATTCCAGGCCTAGTGTTAACCCCACATTCACACACATGCTCAAAGGATGGCCCAACCCTGAGATTCTGAAACTATACTCGCTTTCTACAGGGAAGCTCCTAAATCTAACTGCCCCTAGCAGCTAGACTCCAAATGGATCATTCATTGCTCCCTGGCAATTAAACCGCTGGCTTTAACAACTTCTTTTTTTATCTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTAAATCTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCATGGCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCATGCCCAGCCCTTTGTTTTTTTTTTTTTTTTAGCTATATTTGTTTCTTAGAGAGGGAGTCTCACTATGTTGCCCAAGCTGGGCTCAAATAGGTAACTAACACACCCCTGAATCTAACTGTCCCCCAACAGCTAAGCCCCTGAATCTAACTCTTCCCATACTCTAGCATGGGGGTCCTTAACCCTGGGTACCGGTCCGTGGTCTGTTAGGAACTGGGCTGTGCAGAAGGTGGTGAGCGGTGGGTGAGTGAGCAAAGCTTCATCTGTAGTTACAGCCACTCCCCATCACTCCCGTTACCACCTGAGCTCTGCCTCCTGTCAGATCCGCAGCAGCATTAGATTCTCATAGGAGCACAAACTCTATTGCGAACTGCACATGCGAGGGATCTAGGTTGCGTTCTCCTTATGAGAATCTAATGCCTGATGATCTGTCACTATCTTCCGTCTCTCCCAGATGTGACCATCTAGTTGCAGGAAAACAAGTTCAGGGCTCCCACTGATTCTACATGATGGTGAGTTACATAATTATTTCATTATCTATTGCAATGTAATAATAAAGTGCACAATAAATGTAATGCATTTGAATCCCCGAAACTATGCCCTGCCATGGTCCATGGAAAAATTGTCTTCCACGAAACCGGTCCCTGGTGCCAAAAAGGTTGGGGACCACTGTTCTAGCAGGTAAACTCCTTGAATTTAATACTGAAGCCCCCTAAAAGTCTAATGTCCATCCATTCATTCTTGTAACAGATACTTCAACACTTGACACACACGTAACTATATGAAGATCTTGGGCTGGATAAAGGAGCTGGTCACCTTGCTGGAAGTCTGTCCGCCCACACCCACGGATCAACAGGGCATCTCCAGTGAAGGCCATGCTGTGGTCATTCAGGACGAAGGTGACACAGCCTGGGGTGTGGCCAGGGCTGGCCCGGTCTCCAACGCCTGGCAGGGGTGGAAGAGTACAGAGATAGTCACCAAGAAGCCTTCTAGATGAAACTGGCCCCCAAAGCCCCACCCTACCCCAGGGTCTTATCTAGATAAACATTTTGGTAAAAAATGTAGATTCCCAGGCTGTAATCTTATATTATCAGAGTAAACTCCAAGTGGATTAAAGATTTAAATGCATGAAAAATAAAACCGCAAAGCTGTGACACACAACAACAAAAATACAAATAATATCTGACCTCTGGTTAGGAAGGTGATATGGTTTGGCTGTGTCCCCACCCAAATCTCATCTTGAATTGTAGCTCCCATAATCCTCATATGTCATGGGAGGGACCAGGCAGGAGGTAATTGAATAATGGGGGCAGGTTTTTCCCATGCTGTCTCGTGATGATGAATAAGTCTCACGAGATCTGATGGTTTTATAAAGGGCAGTTCCCCTGCACACTCTCTCTTGCCTGCTGCCATGTAAGACAGGTCTTTGCTCCTCCTTCGCCTTCCACCATGATTGTGAGGCCTCCCCAGCCATGTGGAACTATGAGTCCATTAAACCTCTTTTTCTTTATAAATGACCCAGTCTTAGGGATGTCTTTATTAGCAGCATGAGAAAAGACTAATACAGTAAATTGGTACCAGTAAAGTGGGGTGCTGCTATAAGGAGATGTGAAAATGTGACTTTGGAACTGGGTAACAAGCAGAGGTTTGAACAGTTTGGAAGGCTCAGAAGAAGACAGAAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTGAGTGGCTTTGACCAATATGCCGAGAGTGATATGAACAATGAAGTCCAGGCTGACATGGTCTTACATGGAGATGAGGAACTTTTTGGGAACTGGGGTAAAGGTCACTTTTGTTATGTGTTAGCAAAGAGACTGGCAGCATTTTGCCCCTGCCCTAGAGATCTGTGGAACTTTGAACTTGAGAGAGATGACTTAGGGTACCTAGTAGAAGAAATTTCTCAGCAGGAAAGCATTCAAGAGGTGACTTGAGTGCTGTTAAAAGCATTCAAGAGGTGACTTGAGTGCTGTTAAAAGCATTCACTTCAGTTTTATGTATTCACAATGATATGGTTTGGAATTGGAACCTATGTTTAAAAGGGAAATAGAGCATAAATGTTTGGAAAATTTGCAGCCTGACAATGTGATAGAAAAAAAAACCCATTTTCTGAGGAAAAATTCAAGCCTGCTGCAGAAATTTGTATAAGTAACGAGGAGCCAAATGTTAATCACCAAGACAATGGGAAAAATGTCTCCAGGGCATGTCAGAGGTTTTCACAGCAGCCTCTCCCAACACAGGTCCAAAGGACTAGGAGAAAAAATGGTTTCATGGGCAGGGCCCATGGCCTTGCTGTTTTGTGCAGTCTCAGGACTTGGTGCCCTGCATCCCAGTCGGGGCTAAAAGGGGCCAAGTACAGCTCAGGCCATTGCTTCAGAGGGTGCAAGCCCCAAGCCTTGGTGGCTTACACGTGGTGCTGGGCCTGCTGGTGAACAGAAGTCAAGAACAGAGGTTTGGGAGCCTCCAGCTAGATTTGAGAGGCTGTATGGAAATGCCTGGATGTCCAGGCAGAGGTGTGCTGCAGGGGTGAAGCCTTCATAGGGAACCTCTGCTAGGACAGTGCAGAAGGGAAATGTGGAGTGGGAGCCCCCACAGAGAGTTCCCACTGGGGCACTGCCCCTAGTGGAGCTGTGAGAAGAGGGCCATCGCCCTCCAGAACCCAGAGTGTTAGATCCACCGAGAGCTTGCACCATGTGCCTGGAAAAGCCACAGATACTCCACACCAGCCCGTGAAAGCAGCCAGGAGTGGGGCTGTACCCTGCAAAGCCAGAGGGGCAGAGCTGCCCAAGACCATGGGAACCCACCTCTTGCATCAGCATGACCTGGATTTGAGACATGGAGTAAAAGATCTTTTTGGAGCTTTAAGATTTGACTGCCCCACTGGATTTAGGACTTGCACGGAGCCTGCAGCCCCTTCATTTTGGCCAATTTCTTCCATTTAGAATGGAN
|
pathogenic
| 305,953 |
A genetic alteration at chromosome 19, position 43526519, in gene ETHE1 (ETHE1 persulfide dioxygenase)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Ethylmalonic_encephalopathy']
|
CTTTTTGGAGTAATGGAAACATTTTCCAATTAATGGTAGTAATGGATGTACAACTCTGAATATACTAAAAGTCATTGAATTGTGCACTCGAAATAGATAAATTATATGGTATGTGGGTTATATCAATAAAGCTATTAAGCCTGGGCAACATAGTGAGATTACAGCTCAACAAAAAATTAAAAAATTAGCCAGGTATGGTGGCAGGTGCTTGTAGTCCCAGCTACTTAGGAGGCTGAGGCATGAGGATCACCTGAGCCCAGAAGGTCAAGGCTGCAGTAAGCTATGATCCCACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACCTTTTCTCAAAAACAAACAAACAAACAACAACAACAAAAAAGGGTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTCAGAAGCCCTGTAATCCTAGCACTTTAGGAGGCCAAGGTAGGAGGATCACTTGTGCCCAGTAGTTCAAGACCAGCCTGGGCAACATAACAAAACCCTGTCTCTACAAGAACATACACAAATCAGCCAGGCGTGCTGGTGCATGCCTGTGGTCCCAGCTACCAGGGAGGCTAAGGTGGGAGGATCACCTGAGCCTGGGAGGTCAAGGCTGACTGCACTCCAGCCTAGGTGACAGAGACCCAGTCTCAAATAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAAAAAAAAAACACTGAAGCTAAATCTACCATAGCTAAACCCTTCGTTCATTTCAAGACATGTTTGTTAGCACCTATTATGTACAATGTACATACATGTACAATGCATTTTTGCCTGCTTCCAGAGAAAGGCTTGAAATAAAGCTTCTGTAACCATTGTAGCTGAACTCTCTTCCCACACACAGCCCTCATTTCCTCTAAACACTCTGACTCAAATGAACTGTCCCTATTTGGCAAAACTCTCTAACCTGGAGGCTGTCTTCTGTCACCTGACATTCTGTCCCCAAAGTCAGCCAAACTTTATTATACATCTTTAGCAATTGATCAGAAGAATGCCCTGCCAGCTGTTTCCCTCTCTCTGAGGGCAACTCCCCTGGCCCTCCCTCCTTCGGCCTGGTTGCAATTCTGGCCGGAAACCCGCTGGTGCCTGTGGCAAATAAAGTGAGGAAGGCAGGAACCTTTAGACTTCCCAGTGTGAGGCAACGGCAGGGCTAGGACTAGGGTGAGGCTGTTGGTGCAAGATTTAAGGAGGCGCTCACTCACAGGTGCGGACCCTGCACTTACAGGACCCTGAGAGCGAGTGCCTCCTTAAATGTTGCACTCCAGGGTCCTCACCGTCCTTTTCCTAGTCCTGGGCTCCGGGTTCTAAGCACCCAGATGCTCCTTCCTCAAACGGAGGTTTCCGCAAGACAGGACTGGGTCTCTTTCCTTCTCAGCCCTGCCCTCAGAATTCCAGCCCCTAATCAACTTTTATGGAGATGCATGCCAGGCCAAAGGGCTGCCCCTAAGCTTTAGGAAGGAAACTCCTTAAATGCTGTTGACTTAGGAGTTCCGCCAGTGCCCCACCTGCCCAGAGCCTCTTGCCCCAGTGCCCCACCTGGGTTTATGGTGCCCCCCTCCCAGAAATATGAGCTCAGGGGTCAGAAACCCAGGTCCTGAGGTCCCTCCTCCCCAAGGACTCAGGATCCCAGGCCCCCAGTCCCCTCTTCCCTTAAGTTTAAGAAGTCCAGGCCACCACCCTCTTGGGGACCCAGCACCCAACTCACGAAGCGCCCGAAGCGGATGGAGTCTCCATCCTCAATGTGTAAGTCAGCCTGGGCCCCACTAAGGCGGGAGATGACAGACTGGCAGCCAGGGAGGAGGGAACGGAGCAGCCCCGAGCCTGTAATGTGGTCCGCGTGGCAGTGGGTATTCACTGGGAGAGAGAGGAGGGACAGGTCCGGAGGGTACAGAAAGGACCTGGGAGTCCCAGCCCAGATCCTTCTCCCTCAGACTCAGGAGTTCTGGGCCCCAGCTTCCCATTCCACTGACGCTGCAGCCCAGCCCCGCTGGGATCCATGAGTTTGGTCCCCGGACTGACCAGCATAGAGCAGCCGCAGCCCCAGCTCCTTGATCAGCTGGGCATCCCGAGGCGCTGTTTCCAGGACTGGGTCGATCAGAACGGCCTCCCGGGACTCTCTGTCACCCAGCAGGTACGTGAAGGTGCAGCTCACAGGCTCGAACATCTGGGAACGGGGGACCCAGGTGAGGGCGCAGAACCGGACTTCCACCCACTGGAGGCCAAGTAGTCCAGACTGACCCTATCCTCTTCCTAAGATCCAGAAGCAGAAACCCCAGCCCACTCTTTCCCCGGGAGTCGGGAGTCCGGAGCCCCACTACCTTCCCCTATCAGAACAAAAGAGTTCCAACTTCCTAACATCCCAAAATCAGGGTCCCCAGCACGTTCTTTCATAGAGGACCCAGGGGTCTGGCCCCAAGCCCAGAGGCCCCCAGACCACTCACCTTTAAAGGACCCAAGAGTCCAGCCCTAAACCTCCACCCCGCTTTCCGCAAGATGCAGGCGTGGGTCCCCCCGGATCTCTCCCTATTAAGAGACCCCGGAGTTCCGTCCTTGCTGCCGCCTAGTGCCCAGCAGTCCCCTCCTAGGTCCAGCCACCCGCACCTGCCGCAGGAGGATGGGGGCTCCAGACCCGCCGCGCTGGCTCAGCTGCCGCCGGGCGACCCTCAGTACAGCCTCCGCCATCGCGCCCACTGCGGGGTCAGGAATGAGCGGAGGCCGAGCGCCTGCAGGAGCCGGGCGCTACGGCACTGACCCCGGGAAGGGCGGGGCGGGGGCGGAGCACGCCTTAAAGGGGCCACGGACGCCTGGGGCAGAGGGCGGGGGACCGCCGAGCGGGACTGGGGCGAGGGCGAGACCGAGGAAAGCCAGAGTGCAATGCCTGGACGCTTTGAGACCCAGAAAAAACAGAGAACAGGGAGACACTCAAAGTGCGAGGGACAGACGCTCAGAGACACACAGACATACTCATGTAGGAACAGAGATAGGGAGAGAAGTAGAAACCCAGGGAGAGGCCCCAGTACACTCATAGCCTCGGGGCCGTTTTTTTTCCTTTTTCTTTTGTTTTATTTTGAGACAGAGTCTCGCTCTGTCACGCAGGCTTGAGTGCAGTGACTCGATCTCAGCTTACTACAGCCTTAAACTCCCGGGTTCAAGCGATCCTCCAACCTCAGCCTCCCGAGTAGCTGGGACTATGGCACGTTGCCACCACACCCGACATTTTATATATATATATTTATATCTATATATATATTTATATACATATATATATATACACACACACACACACATACATGTATATAAAATTTGTTTTTTGCAGAGACGGAGTTCTCACTATGTTGCCCAGGCTGATCTCGAACTCCTGAGCTCAAGCGTTCCTCCCACCTTGTCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGTCCCGTGGGGCCGTTTTCTAGCAGGTGGTAGGATAGTCATGGTTAGAAAAAGATGTTCGGTTCCGGGAGGCAGAGGTTGCAGTGAGTAGAGATGACGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCTGTCTCAAAAAAAAAAGATATTCGTTCGGTTCCAGGTCATTAATATCTTGAGGGACTTTTGAGTGGGTGCCTGGTTACCAGAACAACACTTGATCCCATTAAAGTTCATCCAGAAATTGCATAAGCATTTTATCAGGAATGTTTCTCTCTTTCCAGGAAGAAATCTTAAAAAAAAAAAAAAAGATAATTTTGCATTATCTCTTGAATAATCAGATTGGGGATTATTCATCTTCTGTTGGGGTGTGAACCTCTGAAAAGAGCTTGTGTTCATTTACACCAAGGACCTGGGGCTGAAAAACTGTAGTCTCAAGTCATGAGCTGTCAGAAAGTCTGCTCTTTGTAATCGTAGCAGTAGTGAGAATAGGACATCCCACTCTCATCTGGAGGATCTATGTCACTTTGTGACATCAGAGCAGCCTTGATTTCCAGCCTAGGGGCAGAGCTTTTTTTTTTTTTTTTAATTGTTAGAATTTTTTTTGTAGAAACAGGGGTCTTGCTATGTTGCCTAGGCTG
|
CTTTTTGGAGTAATGGAAACATTTTCCAATTAATGGTAGTAATGGATGTACAACTCTGAATATACTAAAAGTCATTGAATTGTGCACTCGAAATAGATAAATTATATGGTATGTGGGTTATATCAATAAAGCTATTAAGCCTGGGCAACATAGTGAGATTACAGCTCAACAAAAAATTAAAAAATTAGCCAGGTATGGTGGCAGGTGCTTGTAGTCCCAGCTACTTAGGAGGCTGAGGCATGAGGATCACCTGAGCCCAGAAGGTCAAGGCTGCAGTAAGCTATGATCCCACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACCTTTTCTCAAAAACAAACAAACAAACAACAACAACAAAAAAGGGTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTCAGAAGCCCTGTAATCCTAGCACTTTAGGAGGCCAAGGTAGGAGGATCACTTGTGCCCAGTAGTTCAAGACCAGCCTGGGCAACATAACAAAACCCTGTCTCTACAAGAACATACACAAATCAGCCAGGCGTGCTGGTGCATGCCTGTGGTCCCAGCTACCAGGGAGGCTAAGGTGGGAGGATCACCTGAGCCTGGGAGGTCAAGGCTGACTGCACTCCAGCCTAGGTGACAGAGACCCAGTCTCAAATAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAAAAAAAAAACACTGAAGCTAAATCTACCATAGCTAAACCCTTCGTTCATTTCAAGACATGTTTGTTAGCACCTATTATGTACAATGTACATACATGTACAATGCATTTTTGCCTGCTTCCAGAGAAAGGCTTGAAATAAAGCTTCTGTAACCATTGTAGCTGAACTCTCTTCCCACACACAGCCCTCATTTCCTCTAAACACTCTGACTCAAATGAACTGTCCCTATTTGGCAAAACTCTCTAACCTGGAGGCTGTCTTCTGTCACCTGACATTCTGTCCCCAAAGTCAGCCAAACTTTATTATACATCTTTAGCAATTGATCAGAAGAATGCCCTGCCAGCTGTTTCCCTCTCTCTGAGGGCAACTCCCCTGGCCCTCCCTCCTTCGGCCTGGTTGCAATTCTGGCCGGAAACCCGCTGGTGCCTGTGGCAAATAAAGTGAGGAAGGCAGGAACCTTTAGACTTCCCAGTGTGAGGCAACGGCAGGGCTAGGACTAGGGTGAGGCTGTTGGTGCAAGATTTAAGGAGGCGCTCACTCACAGGTGCGGACCCTGCACTTACAGGACCCTGAGAGCGAGTGCCTCCTTAAATGTTGCACTCCAGGGTCCTCACCGTCCTTTTCCTAGTCCTGGGCTCCGGGTTCTAAGCACCCAGATGCTCCTTCCTCAAACGGAGGTTTCCGCAAGACAGGACTGGGTCTCTTTCCTTCTCAGCCCTGCCCTCAGAATTCCAGCCCCTAATCAACTTTTATGGAGATGCATGCCAGGCCAAAGGGCTGCCCCTAAGCTTTAGGAAGGAAACTCCTTAAATGCTGTTGACTTAGGAGTTCCGCCAGTGCCCCACCTGCCCAGAGCCTCTTGCCCCAGTGCCCCACCTGGGTTTATGGTGCCCCCCTCCCAGAAATATGAGCTCAGGGGTCAGAAACCCAGGTCCTGAGGTCCCTCCTCCCCAAGGACTCAGGATCCCAGGCCCCCAGTCCCCTCTTCCCTTAAGTTTAAGAAGTCCAGGCCACCACCCTCTTGGGGACCCAGCACCCAACTCACGAAGCGCCCGAAGCGGATGGAGTCTCCATCCTCAATGTGTAAGTCAGCCTGGGCCCCACTAAGGCGGGAGATGACAGACTGGCAGCCAGGGAGGAGGGAACGGAGCAGCCCCGAGCCTGTAATGTGGTCCGCGTGGCAGTGGGTATTCACTGGGAGAGAGAGGAGGGACAGGTCCGGAGGGTACAGAAAGGACCTGGGAGTCCCAGCCCAGATCCTTCTCCCTCAGACTCAGGAGTTCTGGGCCCCAGCTTCCCATTCCACTGACGCTGCAGCCCAGCCCCGCTGGGATCCATGAGTTTGGTCCCCGGACTGACCAGCATTAGAGCAGCCGCAGCCCCAGCTCCTTGATCAGCTGGGCATCCCGAGGCGCTGTTTCCAGGACTGGGTCGATCAGAACGGCCTCCCGGGACTCTCTGTCACCCAGCAGGTACGTGAAGGTGCAGCTCACAGGCTCGAACATCTGGGAACGGGGGACCCAGGTGAGGGCGCAGAACCGGACTTCCACCCACTGGAGGCCAAGTAGTCCAGACTGACCCTATCCTCTTCCTAAGATCCAGAAGCAGAAACCCCAGCCCACTCTTTCCCCGGGAGTCGGGAGTCCGGAGCCCCACTACCTTCCCCTATCAGAACAAAAGAGTTCCAACTTCCTAACATCCCAAAATCAGGGTCCCCAGCACGTTCTTTCATAGAGGACCCAGGGGTCTGGCCCCAAGCCCAGAGGCCCCCAGACCACTCACCTTTAAAGGACCCAAGAGTCCAGCCCTAAACCTCCACCCCGCTTTCCGCAAGATGCAGGCGTGGGTCCCCCCGGATCTCTCCCTATTAAGAGACCCCGGAGTTCCGTCCTTGCTGCCGCCTAGTGCCCAGCAGTCCCCTCCTAGGTCCAGCCACCCGCACCTGCCGCAGGAGGATGGGGGCTCCAGACCCGCCGCGCTGGCTCAGCTGCCGCCGGGCGACCCTCAGTACAGCCTCCGCCATCGCGCCCACTGCGGGGTCAGGAATGAGCGGAGGCCGAGCGCCTGCAGGAGCCGGGCGCTACGGCACTGACCCCGGGAAGGGCGGGGCGGGGGCGGAGCACGCCTTAAAGGGGCCACGGACGCCTGGGGCAGAGGGCGGGGGACCGCCGAGCGGGACTGGGGCGAGGGCGAGACCGAGGAAAGCCAGAGTGCAATGCCTGGACGCTTTGAGACCCAGAAAAAACAGAGAACAGGGAGACACTCAAAGTGCGAGGGACAGACGCTCAGAGACACACAGACATACTCATGTAGGAACAGAGATAGGGAGAGAAGTAGAAACCCAGGGAGAGGCCCCAGTACACTCATAGCCTCGGGGCCGTTTTTTTTCCTTTTTCTTTTGTTTTATTTTGAGACAGAGTCTCGCTCTGTCACGCAGGCTTGAGTGCAGTGACTCGATCTCAGCTTACTACAGCCTTAAACTCCCGGGTTCAAGCGATCCTCCAACCTCAGCCTCCCGAGTAGCTGGGACTATGGCACGTTGCCACCACACCCGACATTTTATATATATATATTTATATCTATATATATATTTATATACATATATATATATACACACACACACACACATACATGTATATAAAATTTGTTTTTTGCAGAGACGGAGTTCTCACTATGTTGCCCAGGCTGATCTCGAACTCCTGAGCTCAAGCGTTCCTCCCACCTTGTCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGTCCCGTGGGGCCGTTTTCTAGCAGGTGGTAGGATAGTCATGGTTAGAAAAAGATGTTCGGTTCCGGGAGGCAGAGGTTGCAGTGAGTAGAGATGACGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCTGTCTCAAAAAAAAAAGATATTCGTTCGGTTCCAGGTCATTAATATCTTGAGGGACTTTTGAGTGGGTGCCTGGTTACCAGAACAACACTTGATCCCATTAAAGTTCATCCAGAAATTGCATAAGCATTTTATCAGGAATGTTTCTCTCTTTCCAGGAAGAAATCTTAAAAAAAAAAAAAAAGATAATTTTGCATTATCTCTTGAATAATCAGATTGGGGATTATTCATCTTCTGTTGGGGTGTGAACCTCTGAAAAGAGCTTGTGTTCATTTACACCAAGGACCTGGGGCTGAAAAACTGTAGTCTCAAGTCATGAGCTGTCAGAAAGTCTGCTCTTTGTAATCGTAGCAGTAGTGAGAATAGGACATCCCACTCTCATCTGGAGGATCTATGTCACTTTGTGACATCAGAGCAGCCTTGATTTCCAGCCTAGGGGCAGAGCTTTTTTTTTTTTTTTTAATTGTTAGAATTTTTTTTGTAGAAACAGGGGTCTTGCTATGTTGCCTAGGCT
|
pathogenic
| 305,964 |
Evaluate this variant at chromosome 19, position 43526608, gene ETHE1 (ETHE1 persulfide dioxygenase): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Ethylmalonic_encephalopathy']
|
GAAATAGATAAATTATATGGTATGTGGGTTATATCAATAAAGCTATTAAGCCTGGGCAACATAGTGAGATTACAGCTCAACAAAAAATTAAAAAATTAGCCAGGTATGGTGGCAGGTGCTTGTAGTCCCAGCTACTTAGGAGGCTGAGGCATGAGGATCACCTGAGCCCAGAAGGTCAAGGCTGCAGTAAGCTATGATCCCACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACCTTTTCTCAAAAACAAACAAACAAACAACAACAACAAAAAAGGGTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTCAGAAGCCCTGTAATCCTAGCACTTTAGGAGGCCAAGGTAGGAGGATCACTTGTGCCCAGTAGTTCAAGACCAGCCTGGGCAACATAACAAAACCCTGTCTCTACAAGAACATACACAAATCAGCCAGGCGTGCTGGTGCATGCCTGTGGTCCCAGCTACCAGGGAGGCTAAGGTGGGAGGATCACCTGAGCCTGGGAGGTCAAGGCTGACTGCACTCCAGCCTAGGTGACAGAGACCCAGTCTCAAATAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAAAAAAAAAACACTGAAGCTAAATCTACCATAGCTAAACCCTTCGTTCATTTCAAGACATGTTTGTTAGCACCTATTATGTACAATGTACATACATGTACAATGCATTTTTGCCTGCTTCCAGAGAAAGGCTTGAAATAAAGCTTCTGTAACCATTGTAGCTGAACTCTCTTCCCACACACAGCCCTCATTTCCTCTAAACACTCTGACTCAAATGAACTGTCCCTATTTGGCAAAACTCTCTAACCTGGAGGCTGTCTTCTGTCACCTGACATTCTGTCCCCAAAGTCAGCCAAACTTTATTATACATCTTTAGCAATTGATCAGAAGAATGCCCTGCCAGCTGTTTCCCTCTCTCTGAGGGCAACTCCCCTGGCCCTCCCTCCTTCGGCCTGGTTGCAATTCTGGCCGGAAACCCGCTGGTGCCTGTGGCAAATAAAGTGAGGAAGGCAGGAACCTTTAGACTTCCCAGTGTGAGGCAACGGCAGGGCTAGGACTAGGGTGAGGCTGTTGGTGCAAGATTTAAGGAGGCGCTCACTCACAGGTGCGGACCCTGCACTTACAGGACCCTGAGAGCGAGTGCCTCCTTAAATGTTGCACTCCAGGGTCCTCACCGTCCTTTTCCTAGTCCTGGGCTCCGGGTTCTAAGCACCCAGATGCTCCTTCCTCAAACGGAGGTTTCCGCAAGACAGGACTGGGTCTCTTTCCTTCTCAGCCCTGCCCTCAGAATTCCAGCCCCTAATCAACTTTTATGGAGATGCATGCCAGGCCAAAGGGCTGCCCCTAAGCTTTAGGAAGGAAACTCCTTAAATGCTGTTGACTTAGGAGTTCCGCCAGTGCCCCACCTGCCCAGAGCCTCTTGCCCCAGTGCCCCACCTGGGTTTATGGTGCCCCCCTCCCAGAAATATGAGCTCAGGGGTCAGAAACCCAGGTCCTGAGGTCCCTCCTCCCCAAGGACTCAGGATCCCAGGCCCCCAGTCCCCTCTTCCCTTAAGTTTAAGAAGTCCAGGCCACCACCCTCTTGGGGACCCAGCACCCAACTCACGAAGCGCCCGAAGCGGATGGAGTCTCCATCCTCAATGTGTAAGTCAGCCTGGGCCCCACTAAGGCGGGAGATGACAGACTGGCAGCCAGGGAGGAGGGAACGGAGCAGCCCCGAGCCTGTAATGTGGTCCGCGTGGCAGTGGGTATTCACTGGGAGAGAGAGGAGGGACAGGTCCGGAGGGTACAGAAAGGACCTGGGAGTCCCAGCCCAGATCCTTCTCCCTCAGACTCAGGAGTTCTGGGCCCCAGCTTCCCATTCCACTGACGCTGCAGCCCAGCCCCGCTGGGATCCATGAGTTTGGTCCCCGGACTGACCAGCATAGAGCAGCCGCAGCCCCAGCTCCTTGATCAGCTGGGCATCCCGAGGCGCTGTTTCCAGGACTGGGTCGATCAGAACGGCCTCCCGGGACTCTCTGTCACCCAGCAGGTACGTGAAGGTGCAGCTCACAGGCTCGAACATCTGGGAACGGGGGACCCAGGTGAGGGCGCAGAACCGGACTTCCACCCACTGGAGGCCAAGTAGTCCAGACTGACCCTATCCTCTTCCTAAGATCCAGAAGCAGAAACCCCAGCCCACTCTTTCCCCGGGAGTCGGGAGTCCGGAGCCCCACTACCTTCCCCTATCAGAACAAAAGAGTTCCAACTTCCTAACATCCCAAAATCAGGGTCCCCAGCACGTTCTTTCATAGAGGACCCAGGGGTCTGGCCCCAAGCCCAGAGGCCCCCAGACCACTCACCTTTAAAGGACCCAAGAGTCCAGCCCTAAACCTCCACCCCGCTTTCCGCAAGATGCAGGCGTGGGTCCCCCCGGATCTCTCCCTATTAAGAGACCCCGGAGTTCCGTCCTTGCTGCCGCCTAGTGCCCAGCAGTCCCCTCCTAGGTCCAGCCACCCGCACCTGCCGCAGGAGGATGGGGGCTCCAGACCCGCCGCGCTGGCTCAGCTGCCGCCGGGCGACCCTCAGTACAGCCTCCGCCATCGCGCCCACTGCGGGGTCAGGAATGAGCGGAGGCCGAGCGCCTGCAGGAGCCGGGCGCTACGGCACTGACCCCGGGAAGGGCGGGGCGGGGGCGGAGCACGCCTTAAAGGGGCCACGGACGCCTGGGGCAGAGGGCGGGGGACCGCCGAGCGGGACTGGGGCGAGGGCGAGACCGAGGAAAGCCAGAGTGCAATGCCTGGACGCTTTGAGACCCAGAAAAAACAGAGAACAGGGAGACACTCAAAGTGCGAGGGACAGACGCTCAGAGACACACAGACATACTCATGTAGGAACAGAGATAGGGAGAGAAGTAGAAACCCAGGGAGAGGCCCCAGTACACTCATAGCCTCGGGGCCGTTTTTTTTCCTTTTTCTTTTGTTTTATTTTGAGACAGAGTCTCGCTCTGTCACGCAGGCTTGAGTGCAGTGACTCGATCTCAGCTTACTACAGCCTTAAACTCCCGGGTTCAAGCGATCCTCCAACCTCAGCCTCCCGAGTAGCTGGGACTATGGCACGTTGCCACCACACCCGACATTTTATATATATATATTTATATCTATATATATATTTATATACATATATATATATACACACACACACACACATACATGTATATAAAATTTGTTTTTTGCAGAGACGGAGTTCTCACTATGTTGCCCAGGCTGATCTCGAACTCCTGAGCTCAAGCGTTCCTCCCACCTTGTCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGTCCCGTGGGGCCGTTTTCTAGCAGGTGGTAGGATAGTCATGGTTAGAAAAAGATGTTCGGTTCCGGGAGGCAGAGGTTGCAGTGAGTAGAGATGACGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCTGTCTCAAAAAAAAAAGATATTCGTTCGGTTCCAGGTCATTAATATCTTGAGGGACTTTTGAGTGGGTGCCTGGTTACCAGAACAACACTTGATCCCATTAAAGTTCATCCAGAAATTGCATAAGCATTTTATCAGGAATGTTTCTCTCTTTCCAGGAAGAAATCTTAAAAAAAAAAAAAAAGATAATTTTGCATTATCTCTTGAATAATCAGATTGGGGATTATTCATCTTCTGTTGGGGTGTGAACCTCTGAAAAGAGCTTGTGTTCATTTACACCAAGGACCTGGGGCTGAAAAACTGTAGTCTCAAGTCATGAGCTGTCAGAAAGTCTGCTCTTTGTAATCGTAGCAGTAGTGAGAATAGGACATCCCACTCTCATCTGGAGGATCTATGTCACTTTGTGACATCAGAGCAGCCTTGATTTCCAGCCTAGGGGCAGAGCTTTTTTTTTTTTTTTTAATTGTTAGAATTTTTTTTGTAGAAACAGGGGTCTTGCTATGTTGCCTAGGCTGGTCTCCAGCTCCTGGCCTCAAATGGTCCTCCCACCTGGGCCTCCCAAAATGCTGGGATTACAGGTATGAACCACTGAGTTATCCTGTCC
|
GAAATAGATAAATTATATGGTATGTGGGTTATATCAATAAAGCTATTAAGCCTGGGCAACATAGTGAGATTACAGCTCAACAAAAAATTAAAAAATTAGCCAGGTATGGTGGCAGGTGCTTGTAGTCCCAGCTACTTAGGAGGCTGAGGCATGAGGATCACCTGAGCCCAGAAGGTCAAGGCTGCAGTAAGCTATGATCCCACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACCTTTTCTCAAAAACAAACAAACAAACAACAACAACAAAAAAGGGTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTCAGAAGCCCTGTAATCCTAGCACTTTAGGAGGCCAAGGTAGGAGGATCACTTGTGCCCAGTAGTTCAAGACCAGCCTGGGCAACATAACAAAACCCTGTCTCTACAAGAACATACACAAATCAGCCAGGCGTGCTGGTGCATGCCTGTGGTCCCAGCTACCAGGGAGGCTAAGGTGGGAGGATCACCTGAGCCTGGGAGGTCAAGGCTGACTGCACTCCAGCCTAGGTGACAGAGACCCAGTCTCAAATAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAAAAAAAAAACACTGAAGCTAAATCTACCATAGCTAAACCCTTCGTTCATTTCAAGACATGTTTGTTAGCACCTATTATGTACAATGTACATACATGTACAATGCATTTTTGCCTGCTTCCAGAGAAAGGCTTGAAATAAAGCTTCTGTAACCATTGTAGCTGAACTCTCTTCCCACACACAGCCCTCATTTCCTCTAAACACTCTGACTCAAATGAACTGTCCCTATTTGGCAAAACTCTCTAACCTGGAGGCTGTCTTCTGTCACCTGACATTCTGTCCCCAAAGTCAGCCAAACTTTATTATACATCTTTAGCAATTGATCAGAAGAATGCCCTGCCAGCTGTTTCCCTCTCTCTGAGGGCAACTCCCCTGGCCCTCCCTCCTTCGGCCTGGTTGCAATTCTGGCCGGAAACCCGCTGGTGCCTGTGGCAAATAAAGTGAGGAAGGCAGGAACCTTTAGACTTCCCAGTGTGAGGCAACGGCAGGGCTAGGACTAGGGTGAGGCTGTTGGTGCAAGATTTAAGGAGGCGCTCACTCACAGGTGCGGACCCTGCACTTACAGGACCCTGAGAGCGAGTGCCTCCTTAAATGTTGCACTCCAGGGTCCTCACCGTCCTTTTCCTAGTCCTGGGCTCCGGGTTCTAAGCACCCAGATGCTCCTTCCTCAAACGGAGGTTTCCGCAAGACAGGACTGGGTCTCTTTCCTTCTCAGCCCTGCCCTCAGAATTCCAGCCCCTAATCAACTTTTATGGAGATGCATGCCAGGCCAAAGGGCTGCCCCTAAGCTTTAGGAAGGAAACTCCTTAAATGCTGTTGACTTAGGAGTTCCGCCAGTGCCCCACCTGCCCAGAGCCTCTTGCCCCAGTGCCCCACCTGGGTTTATGGTGCCCCCCTCCCAGAAATATGAGCTCAGGGGTCAGAAACCCAGGTCCTGAGGTCCCTCCTCCCCAAGGACTCAGGATCCCAGGCCCCCAGTCCCCTCTTCCCTTAAGTTTAAGAAGTCCAGGCCACCACCCTCTTGGGGACCCAGCACCCAACTCACGAAGCGCCCGAAGCGGATGGAGTCTCCATCCTCAATGTGTAAGTCAGCCTGGGCCCCACTAAGGCGGGAGATGACAGACTGGCAGCCAGGGAGGAGGGAACGGAGCAGCCCCGAGCCTGTAATGTGGTCCGCGTGGCAGTGGGTATTCACTGGGAGAGAGAGGAGGGACAGGTCCGGAGGGTACAGAAAGGACCTGGGAGTCCCAGCCCAGATCCTTCTCCCTCAGACTCAGGAGTTCTGGGCCCCAGCTTCCCATTCCACTGACGCTGCAGCCCAGCCCCGCTGGGATCCATGAGTTTGGTCCCCGGACTGACCAGCATAGAGCAGCCGCAGCCCCAGCTCCTTGATCAGCTGGGCATCCCGAGGCGCTGTTTCCAGGACTGGGTCGATCAGAACGGCCTCCCGGGACTCTGTCACCCAGCAGGTACGTGAAGGTGCAGCTCACAGGCTCGAACATCTGGGAACGGGGGACCCAGGTGAGGGCGCAGAACCGGACTTCCACCCACTGGAGGCCAAGTAGTCCAGACTGACCCTATCCTCTTCCTAAGATCCAGAAGCAGAAACCCCAGCCCACTCTTTCCCCGGGAGTCGGGAGTCCGGAGCCCCACTACCTTCCCCTATCAGAACAAAAGAGTTCCAACTTCCTAACATCCCAAAATCAGGGTCCCCAGCACGTTCTTTCATAGAGGACCCAGGGGTCTGGCCCCAAGCCCAGAGGCCCCCAGACCACTCACCTTTAAAGGACCCAAGAGTCCAGCCCTAAACCTCCACCCCGCTTTCCGCAAGATGCAGGCGTGGGTCCCCCCGGATCTCTCCCTATTAAGAGACCCCGGAGTTCCGTCCTTGCTGCCGCCTAGTGCCCAGCAGTCCCCTCCTAGGTCCAGCCACCCGCACCTGCCGCAGGAGGATGGGGGCTCCAGACCCGCCGCGCTGGCTCAGCTGCCGCCGGGCGACCCTCAGTACAGCCTCCGCCATCGCGCCCACTGCGGGGTCAGGAATGAGCGGAGGCCGAGCGCCTGCAGGAGCCGGGCGCTACGGCACTGACCCCGGGAAGGGCGGGGCGGGGGCGGAGCACGCCTTAAAGGGGCCACGGACGCCTGGGGCAGAGGGCGGGGGACCGCCGAGCGGGACTGGGGCGAGGGCGAGACCGAGGAAAGCCAGAGTGCAATGCCTGGACGCTTTGAGACCCAGAAAAAACAGAGAACAGGGAGACACTCAAAGTGCGAGGGACAGACGCTCAGAGACACACAGACATACTCATGTAGGAACAGAGATAGGGAGAGAAGTAGAAACCCAGGGAGAGGCCCCAGTACACTCATAGCCTCGGGGCCGTTTTTTTTCCTTTTTCTTTTGTTTTATTTTGAGACAGAGTCTCGCTCTGTCACGCAGGCTTGAGTGCAGTGACTCGATCTCAGCTTACTACAGCCTTAAACTCCCGGGTTCAAGCGATCCTCCAACCTCAGCCTCCCGAGTAGCTGGGACTATGGCACGTTGCCACCACACCCGACATTTTATATATATATATTTATATCTATATATATATTTATATACATATATATATATACACACACACACACACATACATGTATATAAAATTTGTTTTTTGCAGAGACGGAGTTCTCACTATGTTGCCCAGGCTGATCTCGAACTCCTGAGCTCAAGCGTTCCTCCCACCTTGTCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGTCCCGTGGGGCCGTTTTCTAGCAGGTGGTAGGATAGTCATGGTTAGAAAAAGATGTTCGGTTCCGGGAGGCAGAGGTTGCAGTGAGTAGAGATGACGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCTGTCTCAAAAAAAAAAGATATTCGTTCGGTTCCAGGTCATTAATATCTTGAGGGACTTTTGAGTGGGTGCCTGGTTACCAGAACAACACTTGATCCCATTAAAGTTCATCCAGAAATTGCATAAGCATTTTATCAGGAATGTTTCTCTCTTTCCAGGAAGAAATCTTAAAAAAAAAAAAAAAGATAATTTTGCATTATCTCTTGAATAATCAGATTGGGGATTATTCATCTTCTGTTGGGGTGTGAACCTCTGAAAAGAGCTTGTGTTCATTTACACCAAGGACCTGGGGCTGAAAAACTGTAGTCTCAAGTCATGAGCTGTCAGAAAGTCTGCTCTTTGTAATCGTAGCAGTAGTGAGAATAGGACATCCCACTCTCATCTGGAGGATCTATGTCACTTTGTGACATCAGAGCAGCCTTGATTTCCAGCCTAGGGGCAGAGCTTTTTTTTTTTTTTTTAATTGTTAGAATTTTTTTTGTAGAAACAGGGGTCTTGCTATGTTGCCTAGGCTGGTCTCCAGCTCCTGGCCTCAAATGGTCCTCCCACCTGGGCCTCCCAAAATGCTGGGATTACAGGTATGAACCACTGAGTTATCCTGTCCNN
|
pathogenic
| 305,968 |
Evaluate this variant at chromosome 19, position 44908791, gene APOE (apolipoprotein E): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['APOE-related_disorder', 'Cardiovascular_phenotype', 'Sea-blue_histiocyte_syndrome']
|
AGGCAGACCCTGGGCCCCCTCTTCTGAGGCTTCTGTGCTGCTTCCTGGCTCTGAACAGCGATTTGACGCTCTCTGGGCCTCGGTTTCCCCCATCCTTGAGATAGGAGTTAGAAGTTGTTTTGTTGTTGTTGTTTGTTGTTGTTGTTTTGTTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTCCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCTGCCCGTTTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAATACATGCTTTTCCGCTGGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGCCACACACCTGTGCTCTCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGAAGGTCAAGGTTGCAGTGAACCATGTTCAGGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTATAAATACATAATGCTTTCCAAGTGATTAAACCGACTCCCCCCTCACCCTGCCCACCATGGCTCCAAAGAAGCATTTGTGGAGCACCTTCTGTGTGCCCCTAGGTACTAGATGCCTGGACGGGGTCAGAAGGACCCTGACCCACCTTGAACTTGTTCCACACAGGATGCCAGGCCAAGGTGGAGCAAGCGGTGGAGACAGAGCCGGAGCCCGAGCTGCGCCAGCAGACCGAGTGGCAGAGCGGCCAGCGCTGGGAACTGGCACTGGGTCGCTTTTGGGATTACCTGCGCTGGGTGCAGACACTGTCTGAGCAGGTGCAGGAGGAGCTGCTCAGCTCCCAGGTCACCCAGGAACTGAGGTGAGTGTCCCCATCCTGGCCCTTGACCCTCCTGGTGGGCGGCTATACCTCCCCAGGTCCAGGTTTCATTCTGCCCCTGTCGCTAAGTCTTGGGGGGCCTGGGTCTCTGCTGGTTCTAGCTTCCTCTTCCCATTTCTGACTCCTGGCTTTAGCTCTCTGGAATTCTCTCTCTCAGCTTTGTCTCTCTCTCTTCCCTTCTGACTCAGTCTCTCACACTCGTCCTGGCTCTGTCTCTGTCCTTCCCTAGCTCTTTTATATAGAGACAGAGAGATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTTCTGGGCTCAAGCGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACCTTGCCCGGCCTCCTAGCTCCTTCTTCGTCTCTGCCTCTGCCCTCTGCATCTGCTCTCTGCATCTGTCTCTGTCTCCTTCTCTCGGCCTCTGCCCCGTTCCTTCTCTCCCTCTTGGGTCTCTCTGGCTCATCCCCATCTCGCCCGCCCCATCCCAGCCCTTCTCCCCGCCTCCCACTGTGCGACACCCTCCCGCCCTCTCGGCCGCAGGGCGCTGATGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGAGGAACAACTGACCCCGGTGGCGGAGGAGACGCGGGCACGGCTGTCCAAGGAGCTGCAGGCGGCGCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCCGCCTGGTGCAGTACCGCGGCGAGGTGCAGGCCATGCTCGGCCAGAGCACCGAGGAGCTGCGGGTGCGCCTCGCCTCCCACCTGCGCAAGCTGCGTAAGCGGCTCCTCCGCGATGCCGATGACCTGCAGAAGCGCCTGGCAGTGTACCAGGCCGGGGCCCGCGAGGGCGCCGAGCGCGGCCTCAGCGCCATCCGCGAGCGCCTGGGGCCCCTGGTGGAACAGGGCCGCGTGCGGGCCGCCACTGTGGGCTCCCTGGCCGGCCAGCCGCTACAGGAGCGGGCCCAGGCCTGGGGCGAGCGGCTGCGCGCGCGGATGGAGGAGATGGGCAGCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGGCGGAGGTGCGCGCCAAGCTGGAGGAGCAGGCCCAGCAGATACGCCTGCAGGCCGAGGCCTTCCAGGCCCGCCTCAAGAGCTGGTTCGAGCCCCTGGTGGAAGACATGCAGCGCCAGTGGGCCGGGCTGGTGGAGAAGGTGCAGGCTGCCGTGGGCACCAGCGCCGCCCCTGTGCCCAGCGACAATCACTGAACGCCGAAGCCTGCAGCCATGCGACCCCACGCCACCCCGTGCCTCCTGCCTCCGCGCAGCCTGCAGCGGGAGACCCTGTCCCCGCCCCAGCCGTCCTCCTGGGGTGGACCCTAGTTTAATAAAGATTCACCAAGTTTCACGCATCTGCTGGCCTCCCCCTGTGATTTCCTCTAAGCCCCAGCCTCAGTTTCTCTTTCTGCCCACATACTGGCCACACAATTCTCAGCCCCCTCCTCTCCATCTGTGTCTGTGTGTATCTTTCTCTCTGCCCTTTTTTTTTTTTTTAGACGGAGTCTGGCTCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGCGATTCTGCTGCCTCAGTAGCTGGGATTACAGGCTCACACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGCTTTCACCATGTTGGCCAGGCAGGTCTCAAACTCCTGACCAAGTGATCCACCCGCCGGCCTCCCAAAGTGCTGAGATTACAGGCCTGAGCCACCATGCCCGGCCTCTGCCCCTCTTTCTTTTTTAGGGGGCAGGGAAAGGTCTCACCCTGTCACCCGCCATCACAGCTCACTGCAGCCTCCACCTCCTGGACTCAAGTGATAAGTGATCCTCCCGCCTCAGCCTTTCCAGTAGCTGAGACTACAGGCGCATACCACTAGGATTAATTTGGGGGGGGGGGTGGTGTGTGTGGAGATGGGGTCTGGCTTTGTTGGCCAGGCTGATGTGGAATTCCTGGGCTCAAGCGATACTCCCACCTTGGCCTCCTGAGTAGCTGAGACTACTGGCTAGCACCACCACACCCAGCTTTTTATTATTATTTGTAGAGACAAGGTCTCAATATGTTGCCCAGGCTAGTCTCAAACCCCTGGGCTCAAGAGATCCTCCGCCATCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGGGGCTCCGAGCCCGGCCTGCCCAACTTAATAATACTTGTTCCTCAGAGTTGCAACTCCAAATGACCTGAGATTGGTGCCTTTATTCTAAGCTATTTTCATTTTTTTTCTGCTGTCATTATTCTCCCCCTTCTCTCCTCCAGTCTTATCTGATATCTGCCTCCTTCCCACCCACCCTGCACCCCATCCCACCCCTCTGTCTCTCCCTGTTCTCCTCAGGAGACTCTGGCTTCCTGTTTTCCTCCACTTCTATCTTTTATCTCTCCCTCCTACGGTTTCTTTTCTTTCTCCCCGGCCTGCTTGTTTCTCCCCCAACCCCCTTCATCTGGATTTCTTCTTCTGCCATTCAGTTTGGTTTGAGCTCTCTGCTTCTCCGGTTCCCTCTGAGCTAGCTGTCCCTTCACCCACTGTGAACTGGGTTTCCCTGCCCAACCCTCATTCTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGCCTGGAGTGCAGTGGTGCAATCTTGGTTCACTGCAACCTCCACTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGTGTCC
|
AGGCAGACCCTGGGCCCCCTCTTCTGAGGCTTCTGTGCTGCTTCCTGGCTCTGAACAGCGATTTGACGCTCTCTGGGCCTCGGTTTCCCCCATCCTTGAGATAGGAGTTAGAAGTTGTTTTGTTGTTGTTGTTTGTTGTTGTTGTTTTGTTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTCCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCTGCCCGTTTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAATACATGCTTTTCCGCTGGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGCCACACACCTGTGCTCTCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGAAGGTCAAGGTTGCAGTGAACCATGTTCAGGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTATAAATACATAATGCTTTCCAAGTGATTAAACCGACTCCCCCCTCACCCTGCCCACCATGGCTCCAAAGAAGCATTTGTGGAGCACCTTCTGTGTGCCCCTAGGTACTAGATGCCTGGACGGGGTCAGAAGGACCCTGACCCACCTTGAACTTGTTCCACACAGGATGCCAGGCCAAGGTGGAGCAAGCGGTGGAGACAGAGCCGGAGCCCGAGCTGCGCCAGCAGACCGAGTGGCAGAGCGGCCAGCGCTGGGAACTGGCACTGGGTCGCTTTTGGGATTACCTGCGCTGGGTGCAGACACTGTCTGAGCAGGTGCAGGAGGAGCTGCTCAGCTCCCAGGTCACCCAGGAACTGAGGTGAGTGTCCCCATCCTGGCCCTTGACCCTCCTGGTGGGCGGCTATACCTCCCCAGGTCCAGGTTTCATTCTGCCCCTGTCGCTAAGTCTTGGGGGGCCTGGGTCTCTGCTGGTTCTAGCTTCCTCTTCCCATTTCTGACTCCTGGCTTTAGCTCTCTGGAATTCTCTCTCTCAGCTTTGTCTCTCTCTCTTCCCTTCTGACTCAGTCTCTCACACTCGTCCTGGCTCTGTCTCTGTCCTTCCCTAGCTCTTTTATATAGAGACAGAGAGATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTTCTGGGCTCAAGCGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACCTTGCCCGGCCTCCTAGCTCCTTCTTCGTCTCTGCCTCTGCCCTCTGCATCTGCTCTCTGCATCTGTCTCTGTCTCCTTCTCTCGGCCTCTGCCCCGTTCCTTCTCTCCCTCTTGGGTCTCTCTGGCTCATCCCCATCTCGCCCGCCCCATCCCAGCCCTTCTCCCCGCCTCCCACTGTGCGACACCCTCCCGCCCTCTCGGCCGCAGGGCGCTGATGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGAGGAACAACTGACCCCGGTGGCGGAGGAGACGCGGGCACGGCTGTCCAAGGAGCTGCAGGCGGCGCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCCGCCTGGTGCAGTACCGCGGCGAGGTGCAGGCCATGCTCGGCCAGAGCACCGAGGAGCTGCGGGTGCGCCTCGCCTCCCACCTGCGCAAGCTGCGTAAGCGGCTCCGCGATGCCGATGACCTGCAGAAGCGCCTGGCAGTGTACCAGGCCGGGGCCCGCGAGGGCGCCGAGCGCGGCCTCAGCGCCATCCGCGAGCGCCTGGGGCCCCTGGTGGAACAGGGCCGCGTGCGGGCCGCCACTGTGGGCTCCCTGGCCGGCCAGCCGCTACAGGAGCGGGCCCAGGCCTGGGGCGAGCGGCTGCGCGCGCGGATGGAGGAGATGGGCAGCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGGCGGAGGTGCGCGCCAAGCTGGAGGAGCAGGCCCAGCAGATACGCCTGCAGGCCGAGGCCTTCCAGGCCCGCCTCAAGAGCTGGTTCGAGCCCCTGGTGGAAGACATGCAGCGCCAGTGGGCCGGGCTGGTGGAGAAGGTGCAGGCTGCCGTGGGCACCAGCGCCGCCCCTGTGCCCAGCGACAATCACTGAACGCCGAAGCCTGCAGCCATGCGACCCCACGCCACCCCGTGCCTCCTGCCTCCGCGCAGCCTGCAGCGGGAGACCCTGTCCCCGCCCCAGCCGTCCTCCTGGGGTGGACCCTAGTTTAATAAAGATTCACCAAGTTTCACGCATCTGCTGGCCTCCCCCTGTGATTTCCTCTAAGCCCCAGCCTCAGTTTCTCTTTCTGCCCACATACTGGCCACACAATTCTCAGCCCCCTCCTCTCCATCTGTGTCTGTGTGTATCTTTCTCTCTGCCCTTTTTTTTTTTTTTAGACGGAGTCTGGCTCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGCGATTCTGCTGCCTCAGTAGCTGGGATTACAGGCTCACACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGCTTTCACCATGTTGGCCAGGCAGGTCTCAAACTCCTGACCAAGTGATCCACCCGCCGGCCTCCCAAAGTGCTGAGATTACAGGCCTGAGCCACCATGCCCGGCCTCTGCCCCTCTTTCTTTTTTAGGGGGCAGGGAAAGGTCTCACCCTGTCACCCGCCATCACAGCTCACTGCAGCCTCCACCTCCTGGACTCAAGTGATAAGTGATCCTCCCGCCTCAGCCTTTCCAGTAGCTGAGACTACAGGCGCATACCACTAGGATTAATTTGGGGGGGGGGGTGGTGTGTGTGGAGATGGGGTCTGGCTTTGTTGGCCAGGCTGATGTGGAATTCCTGGGCTCAAGCGATACTCCCACCTTGGCCTCCTGAGTAGCTGAGACTACTGGCTAGCACCACCACACCCAGCTTTTTATTATTATTTGTAGAGACAAGGTCTCAATATGTTGCCCAGGCTAGTCTCAAACCCCTGGGCTCAAGAGATCCTCCGCCATCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGGGGCTCCGAGCCCGGCCTGCCCAACTTAATAATACTTGTTCCTCAGAGTTGCAACTCCAAATGACCTGAGATTGGTGCCTTTATTCTAAGCTATTTTCATTTTTTTTCTGCTGTCATTATTCTCCCCCTTCTCTCCTCCAGTCTTATCTGATATCTGCCTCCTTCCCACCCACCCTGCACCCCATCCCACCCCTCTGTCTCTCCCTGTTCTCCTCAGGAGACTCTGGCTTCCTGTTTTCCTCCACTTCTATCTTTTATCTCTCCCTCCTACGGTTTCTTTTCTTTCTCCCCGGCCTGCTTGTTTCTCCCCCAACCCCCTTCATCTGGATTTCTTCTTCTGCCATTCAGTTTGGTTTGAGCTCTCTGCTTCTCCGGTTCCCTCTGAGCTAGCTGTCCCTTCACCCACTGTGAACTGGGTTTCCCTGCCCAACCCTCATTCTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGCCTGGAGTGCAGTGGTGCAATCTTGGTTCACTGCAACCTCCACTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGTGTCCNNN
|
pathogenic
| 306,083 |
Determine if the mutation at chromosome 19, position 44948839 in gene APOC2 is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Cardiovascular_phenotype']
|
TAGCCTGGGTGACAGAGCAAGACTCAGTCTTGGCGGAAAAAAAGAATGAAAAAATTTAAAAAACTAAAAAAGAACTGTAGGCTGGGCGTGGTGGCTTACACTTGTAATCCAAACGCTTTGGGAGGCCAAGGCAAACGGATCACTTGATGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGACAGGCATGGTGGTGCATGCTTGTATTTCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCGCTCGAACCCGGAAGACAGAGGTTGCGGTGAGCCAAAATTGCGCCATCGCACTCCAGCCTGGGCGAGAGAACAAGACCTTGTCTTGGAAAAAAAAAAAGAATTGTAGACCATTTGCTTGTGTTCTTTCTCCGGGGATCAGATCTCACCCTCTTTCTGCCGTACTTCCTCATCTCCTACGTGTGGATGATGATATTGTGCCCTGTGCATGTTCTTCGTCACCAAAAGTGCCTCTCTCATAGAGCAGGTGAGAACTCAGTGAGGAGATGCAGGGACATGAGGTCTGACTTAGGGCAGAGCCCTAAGGTAACACATTTGATCTACTGTAGGTCCTTAATGGTGTCTGCAGAGCACCTCCCTGCACTGACTCAGCCTTAGCAAAGGGCAGAGGCTTTGCTGTGTTCCCTGCTGGGCCCAGAACTGTTTAGGTGCTCAAGAAAGCCTTCTAGGCTGGGCTCAGTGGCTCACACCTGTACTCCCAGCACCCTGGGGAGGCCGAGATGGGAGGATCGCTTGAGCCCAGGAGTTCCAGACCAGCCTGGGCAACAAAACAAGTCTCCCATCTCTACAAAAGAATAAAAATTAGCAGCTGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGCAAATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGGTGGGGCACAGTGGCTCAAGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGAAGTTCGAGACCAGCCTGGCCAGCATGGTGAAACCCCATCTCTACTAAAAATACAAAATATTAGCCGGGCATGGTGGCAGGTGCTTGTGATTCCAGCTCCTTGGGAGGCTGAGGCAGAAGAATTGCTAGAACCCTGGAGGCAGAGGTTGCAGTGAGCCGAGAACACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAATACGAAAACAAAAATCAGCCGGGTGGTGGCGGGTGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGGGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCATCTCAAAAAAGAAAAAAATAATAATTAAAATGTTAAAATCAGGAGTAGAATCACAGAATGTTGGAAAGTGAGGCCCAAGAAGGGGGCTGTGTCCAAGTCCATGCATGGGAAACTTGACTGGGACACCGAGCTCACACAGAGCAGGATCTCAGTCCCCCCCACCAGAGTGGGGCGTGACCACAGGAACAGCCGCCTCCAGTCAGCCTGCCACATGACACCCCCTCAATGTTCCAGGTCTCTGGACACTATGGGCACACGACTCCTCCCAGCTCTGTTTCTTGTCCTCCTGGTATTGGGATTTGGTGAGTGTGGGCTTCCGGGGAGGGAAGCCTTGGGGAGGGGAATGAGCTCCAAGCATCTTCCCAGCCCAGGCCCTTCTTACCTCTGCCTCTGCCCTCTCCTCTTCTTCCTTCCTCCTTTCCCCCTGCTGCAGCCCCACGGGCTCTCCTGACACACTCTCCCCCTGCAGAGGTCCAGGGGACCCAACAGCCCCAGCAAGATGAGATGCCTAGCCCGACCTTCCTCACCCAGGTGAAGGAATCTCTCTCCAGTTACTGGGAGTCAGCAAAGACAGCCGCCCAGAACCTGTACGAGAAGACATACCTGCCCGCTGTAGATGAGAAACTCAGGTAGCACCTGCCCCTGGAGAAATGGGGTCTGGCCCATACCACCGACTGCATCCAGGACCCAGAAGTTCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCGTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGACCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCTAACCATCTGTGCTTTCTCCCCAGGGACTTGTACAGCAAAAGCACAGCAGCCATGAGCACTTACACAGGCATTTTTACTGACCAAGTTCTTTCTGTGCTGAAGGGAGAGGAGTAACAGCCAGACCCCCCATCAGTGGACAAGGGGAGAGTCCCCTACTCCCCTGATCCCCCAGGTTCAGACTGAGCTCCCCCTTCCCAGTAGCTCTTGCATCCTCCTCCCAACTCTAGCCTGAATTCTTTTCAATAAAAAATACAATTCAAGTTGCTTCTCATGGATGGCACTGCTTTTCTGAGGACTCAAGGGCCAAGATGGAGGGGCTGACTCAGTCCAGCCAACATTTAATGAGCACCTACTTTATGTATGGAGCTCTAACCCATGGGTCCATGGGAATAAAGCAGTGAATAGTAACAATAAATAATCGTAACAGCAATTAGAGACTAATCTTTATTGAAGTCCGGCTTTCTCTCTTTTATTTTTTTATTTTTTGAGACAGGGTTTCACTCTGTCACCCAGGCTGGACAGCAGTGGTGCAATCTCGGCTCACTGCACCCTCCGCCTCCCAGGTTCCAGCGATTCTGTGTGCCTCAGCCTCTGGAGTAGCTGGGATTATGGGCATGTGCCACTGTGCACGGCTAATGTTTGTATTTTTAGTAGGGTTTTGCCAGTTGGCTAGGCTGGTCTCAAACTTCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTACTGGGGTGACAGGCATGAGCCACCGCGCCATGCCAAAATCCAGCCTTCTCATTTGTAAAATAACAAATCATAGACACAGCTAGTCCACAGTGGCCTCTGACAGTCTCCAGTTGTTAACGGTGAATGGTGTCCAGGTTTTTGGCGTCCTGAACAAAGAACTGGACAAAACGCACAAACAAAGCAAGGAAGGAATGAAGGGATTTATTGAAAACGAACATACACTAAACAGTGTGGGAGCGGGCCCAAGCATATGGGTTCAAAAGCCCTGTTACAGAATTTTTGGGAGTTTAAATTCCCCCTAGAGGATTCCCCTTCCACTGGTTACTTCTGGTACACCCTATGTAAATGGAGAGGATGAAGAAAAGTTACAAAGTCATTTATGGCCTACCGGAGAGGATGTTTCCTGTTATAGCTGAAGTGAATTGGCCTTATGTTCCCTGCCTCCCTATTTTCCTGCCTTACAGTTGCTGGACTGACACATTTTTTATTTTATTTATTTTGTTTTGAGATAAGGTCTTGCTCTGTCGCCCAGGCTGAAGTGCAGTGGTGAGATCTTGGCTTACTGTAGCCTTGACCTTTTGGGCTCAAGAGATCCTCCCATCTCAGCCTCCCAAGTAGTTGGGACTAGGGATGCCCACTGCCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGTCAAGTTGCCTAGGCTAGTCTCCAATTCCTGGGCTCAAGCGATCTGCCCACCTTGCCCTTCCAAAGTGTTGGGATTACGGGTGTGAACCACCGCACCAGGCCTGGGCTGACACTTTAAACGTGCCATTGCAATCAGTGTATAATGGTCCCGTGGCAGAGGGAGAATGGTGCCCAAGTCAGTACTTCTTGGCTGGGACCCAAGAAGACAAACCTCTAGGGCCGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGTTGGCTGAGGTGGGCAGATCATCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTAATA
|
TAGCCTGGGTGACAGAGCAAGACTCAGTCTTGGCGGAAAAAAAGAATGAAAAAATTTAAAAAACTAAAAAAGAACTGTAGGCTGGGCGTGGTGGCTTACACTTGTAATCCAAACGCTTTGGGAGGCCAAGGCAAACGGATCACTTGATGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGACAGGCATGGTGGTGCATGCTTGTATTTCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCGCTCGAACCCGGAAGACAGAGGTTGCGGTGAGCCAAAATTGCGCCATCGCACTCCAGCCTGGGCGAGAGAACAAGACCTTGTCTTGGAAAAAAAAAAAGAATTGTAGACCATTTGCTTGTGTTCTTTCTCCGGGGATCAGATCTCACCCTCTTTCTGCCGTACTTCCTCATCTCCTACGTGTGGATGATGATATTGTGCCCTGTGCATGTTCTTCGTCACCAAAAGTGCCTCTCTCATAGAGCAGGTGAGAACTCAGTGAGGAGATGCAGGGACATGAGGTCTGACTTAGGGCAGAGCCCTAAGGTAACACATTTGATCTACTGTAGGTCCTTAATGGTGTCTGCAGAGCACCTCCCTGCACTGACTCAGCCTTAGCAAAGGGCAGAGGCTTTGCTGTGTTCCCTGCTGGGCCCAGAACTGTTTAGGTGCTCAAGAAAGCCTTCTAGGCTGGGCTCAGTGGCTCACACCTGTACTCCCAGCACCCTGGGGAGGCCGAGATGGGAGGATCGCTTGAGCCCAGGAGTTCCAGACCAGCCTGGGCAACAAAACAAGTCTCCCATCTCTACAAAAGAATAAAAATTAGCAGCTGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGCAAATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGGTGGGGCACAGTGGCTCAAGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGAAGTTCGAGACCAGCCTGGCCAGCATGGTGAAACCCCATCTCTACTAAAAATACAAAATATTAGCCGGGCATGGTGGCAGGTGCTTGTGATTCCAGCTCCTTGGGAGGCTGAGGCAGAAGAATTGCTAGAACCCTGGAGGCAGAGGTTGCAGTGAGCCGAGAACACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAATACGAAAACAAAAATCAGCCGGGTGGTGGCGGGTGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGGGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCATCTCAAAAAAGAAAAAAATAATAATTAAAATGTTAAAATCAGGAGTAGAATCACAGAATGTTGGAAAGTGAGGCCCAAGAAGGGGGCTGTGTCCAAGTCCATGCATGGGAAACTTGACTGGGACACCGAGCTCACACAGAGCAGGATCTCAGTCCCCCCCACCAGAGTGGGGCGTGACCACAGGAACAGCCGCCTCCAGTCAGCCTGCCACATGACACCCCCTCAATGTTCCAGGTCTCTGGACACTATGGGCACACGACTCCTCCCAGCTCTGTTTCTTGTCCTCCTGGTATTGGGATTTGGTGAGTGTGGGCTTCCGGGGAGGGAAGCCTTGGGGAGGGGAATGAGCTCCAAGCATCTTCCCAGCCCAGGCCCTTCTTACCTCTGCCTCTGCCCTCTCCTCTTCTTCCTTCCTCCTTTCCCCCTGCTGCAGCCCCACGGGCTCTCCTGACACACTCTCCCCCTGCAGAGGTCCAGGGGACCCAACAGCCCCAGCAAGATGAGATGCCTAGCCCGACCTTCCTCACCCAGGTGAAGGAATCTCTCTCCAGTTACTGGGAGTCAGCAAAGACAGCCGCCCAGAACCTGTACGAGAAGACATACCTGCCCTGTAGATGAGAAACTCAGGTAGCACCTGCCCCTGGAGAAATGGGGTCTGGCCCATACCACCGACTGCATCCAGGACCCAGAAGTTCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCGTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGACCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCTAACCATCTGTGCTTTCTCCCCAGGGACTTGTACAGCAAAAGCACAGCAGCCATGAGCACTTACACAGGCATTTTTACTGACCAAGTTCTTTCTGTGCTGAAGGGAGAGGAGTAACAGCCAGACCCCCCATCAGTGGACAAGGGGAGAGTCCCCTACTCCCCTGATCCCCCAGGTTCAGACTGAGCTCCCCCTTCCCAGTAGCTCTTGCATCCTCCTCCCAACTCTAGCCTGAATTCTTTTCAATAAAAAATACAATTCAAGTTGCTTCTCATGGATGGCACTGCTTTTCTGAGGACTCAAGGGCCAAGATGGAGGGGCTGACTCAGTCCAGCCAACATTTAATGAGCACCTACTTTATGTATGGAGCTCTAACCCATGGGTCCATGGGAATAAAGCAGTGAATAGTAACAATAAATAATCGTAACAGCAATTAGAGACTAATCTTTATTGAAGTCCGGCTTTCTCTCTTTTATTTTTTTATTTTTTGAGACAGGGTTTCACTCTGTCACCCAGGCTGGACAGCAGTGGTGCAATCTCGGCTCACTGCACCCTCCGCCTCCCAGGTTCCAGCGATTCTGTGTGCCTCAGCCTCTGGAGTAGCTGGGATTATGGGCATGTGCCACTGTGCACGGCTAATGTTTGTATTTTTAGTAGGGTTTTGCCAGTTGGCTAGGCTGGTCTCAAACTTCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTACTGGGGTGACAGGCATGAGCCACCGCGCCATGCCAAAATCCAGCCTTCTCATTTGTAAAATAACAAATCATAGACACAGCTAGTCCACAGTGGCCTCTGACAGTCTCCAGTTGTTAACGGTGAATGGTGTCCAGGTTTTTGGCGTCCTGAACAAAGAACTGGACAAAACGCACAAACAAAGCAAGGAAGGAATGAAGGGATTTATTGAAAACGAACATACACTAAACAGTGTGGGAGCGGGCCCAAGCATATGGGTTCAAAAGCCCTGTTACAGAATTTTTGGGAGTTTAAATTCCCCCTAGAGGATTCCCCTTCCACTGGTTACTTCTGGTACACCCTATGTAAATGGAGAGGATGAAGAAAAGTTACAAAGTCATTTATGGCCTACCGGAGAGGATGTTTCCTGTTATAGCTGAAGTGAATTGGCCTTATGTTCCCTGCCTCCCTATTTTCCTGCCTTACAGTTGCTGGACTGACACATTTTTTATTTTATTTATTTTGTTTTGAGATAAGGTCTTGCTCTGTCGCCCAGGCTGAAGTGCAGTGGTGAGATCTTGGCTTACTGTAGCCTTGACCTTTTGGGCTCAAGAGATCCTCCCATCTCAGCCTCCCAAGTAGTTGGGACTAGGGATGCCCACTGCCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGTCAAGTTGCCTAGGCTAGTCTCCAATTCCTGGGCTCAAGCGATCTGCCCACCTTGCCCTTCCAAAGTGTTGGGATTACGGGTGTGAACCACCGCACCAGGCCTGGGCTGACACTTTAAACGTGCCATTGCAATCAGTGTATAATGGTCCCGTGGCAGAGGGAGAATGGTGCCCAAGTCAGTACTTCTTGGCTGGGACCCAAGAAGACAAACCTCTAGGGCCGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGTTGGCTGAGGTGGGCAGATCATCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTAATANN
|
pathogenic
| 306,103 |
Regarding the variant at chromosome 19 and position 44949437, affecting gene APOC2: benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
benign
|
TGTAGGTCCTTAATGGTGTCTGCAGAGCACCTCCCTGCACTGACTCAGCCTTAGCAAAGGGCAGAGGCTTTGCTGTGTTCCCTGCTGGGCCCAGAACTGTTTAGGTGCTCAAGAAAGCCTTCTAGGCTGGGCTCAGTGGCTCACACCTGTACTCCCAGCACCCTGGGGAGGCCGAGATGGGAGGATCGCTTGAGCCCAGGAGTTCCAGACCAGCCTGGGCAACAAAACAAGTCTCCCATCTCTACAAAAGAATAAAAATTAGCAGCTGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGCAAATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGGTGGGGCACAGTGGCTCAAGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGAAGTTCGAGACCAGCCTGGCCAGCATGGTGAAACCCCATCTCTACTAAAAATACAAAATATTAGCCGGGCATGGTGGCAGGTGCTTGTGATTCCAGCTCCTTGGGAGGCTGAGGCAGAAGAATTGCTAGAACCCTGGAGGCAGAGGTTGCAGTGAGCCGAGAACACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAATACGAAAACAAAAATCAGCCGGGTGGTGGCGGGTGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGGGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCATCTCAAAAAAGAAAAAAATAATAATTAAAATGTTAAAATCAGGAGTAGAATCACAGAATGTTGGAAAGTGAGGCCCAAGAAGGGGGCTGTGTCCAAGTCCATGCATGGGAAACTTGACTGGGACACCGAGCTCACACAGAGCAGGATCTCAGTCCCCCCCACCAGAGTGGGGCGTGACCACAGGAACAGCCGCCTCCAGTCAGCCTGCCACATGACACCCCCTCAATGTTCCAGGTCTCTGGACACTATGGGCACACGACTCCTCCCAGCTCTGTTTCTTGTCCTCCTGGTATTGGGATTTGGTGAGTGTGGGCTTCCGGGGAGGGAAGCCTTGGGGAGGGGAATGAGCTCCAAGCATCTTCCCAGCCCAGGCCCTTCTTACCTCTGCCTCTGCCCTCTCCTCTTCTTCCTTCCTCCTTTCCCCCTGCTGCAGCCCCACGGGCTCTCCTGACACACTCTCCCCCTGCAGAGGTCCAGGGGACCCAACAGCCCCAGCAAGATGAGATGCCTAGCCCGACCTTCCTCACCCAGGTGAAGGAATCTCTCTCCAGTTACTGGGAGTCAGCAAAGACAGCCGCCCAGAACCTGTACGAGAAGACATACCTGCCCGCTGTAGATGAGAAACTCAGGTAGCACCTGCCCCTGGAGAAATGGGGTCTGGCCCATACCACCGACTGCATCCAGGACCCAGAAGTTCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCGTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGACCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCTAACCATCTGTGCTTTCTCCCCAGGGACTTGTACAGCAAAAGCACAGCAGCCATGAGCACTTACACAGGCATTTTTACTGACCAAGTTCTTTCTGTGCTGAAGGGAGAGGAGTAACAGCCAGACCCCCCATCAGTGGACAAGGGGAGAGTCCCCTACTCCCCTGATCCCCCAGGTTCAGACTGAGCTCCCCCTTCCCAGTAGCTCTTGCATCCTCCTCCCAACTCTAGCCTGAATTCTTTTCAATAAAAAATACAATTCAAGTTGCTTCTCATGGATGGCACTGCTTTTCTGAGGACTCAAGGGCCAAGATGGAGGGGCTGACTCAGTCCAGCCAACATTTAATGAGCACCTACTTTATGTATGGAGCTCTAACCCATGGGTCCATGGGAATAAAGCAGTGAATAGTAACAATAAATAATCGTAACAGCAATTAGAGACTAATCTTTATTGAAGTCCGGCTTTCTCTCTTTTATTTTTTTATTTTTTGAGACAGGGTTTCACTCTGTCACCCAGGCTGGACAGCAGTGGTGCAATCTCGGCTCACTGCACCCTCCGCCTCCCAGGTTCCAGCGATTCTGTGTGCCTCAGCCTCTGGAGTAGCTGGGATTATGGGCATGTGCCACTGTGCACGGCTAATGTTTGTATTTTTAGTAGGGTTTTGCCAGTTGGCTAGGCTGGTCTCAAACTTCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTACTGGGGTGACAGGCATGAGCCACCGCGCCATGCCAAAATCCAGCCTTCTCATTTGTAAAATAACAAATCATAGACACAGCTAGTCCACAGTGGCCTCTGACAGTCTCCAGTTGTTAACGGTGAATGGTGTCCAGGTTTTTGGCGTCCTGAACAAAGAACTGGACAAAACGCACAAACAAAGCAAGGAAGGAATGAAGGGATTTATTGAAAACGAACATACACTAAACAGTGTGGGAGCGGGCCCAAGCATATGGGTTCAAAAGCCCTGTTACAGAATTTTTGGGAGTTTAAATTCCCCCTAGAGGATTCCCCTTCCACTGGTTACTTCTGGTACACCCTATGTAAATGGAGAGGATGAAGAAAAGTTACAAAGTCATTTATGGCCTACCGGAGAGGATGTTTCCTGTTATAGCTGAAGTGAATTGGCCTTATGTTCCCTGCCTCCCTATTTTCCTGCCTTACAGTTGCTGGACTGACACATTTTTTATTTTATTTATTTTGTTTTGAGATAAGGTCTTGCTCTGTCGCCCAGGCTGAAGTGCAGTGGTGAGATCTTGGCTTACTGTAGCCTTGACCTTTTGGGCTCAAGAGATCCTCCCATCTCAGCCTCCCAAGTAGTTGGGACTAGGGATGCCCACTGCCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGTCAAGTTGCCTAGGCTAGTCTCCAATTCCTGGGCTCAAGCGATCTGCCCACCTTGCCCTTCCAAAGTGTTGGGATTACGGGTGTGAACCACCGCACCAGGCCTGGGCTGACACTTTAAACGTGCCATTGCAATCAGTGTATAATGGTCCCGTGGCAGAGGGAGAATGGTGCCCAAGTCAGTACTTCTTGGCTGGGACCCAAGAAGACAAACCTCTAGGGCCGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGTTGGCTGAGGTGGGCAGATCATCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTAATAAAAACACAAAAATTAGCTAGGGGTGGCCCGCGCCTGTAATCCCAGTTACCTGGAGGCTGAGGCAGGAGAATTGCTTGTACCCTGGAGGCGGAGATAGTGCCACTGCACTCCAGCCTGGGCAGCAGAGTGAGACTCCGTCTCTAAAAAAAAAAAAGAAAAACTTATTAAAAAAAAATTGCAAGCAAAAAGCACAGAAGGCAGAAGGTGCAAATAAGCAGAGGCTCCATGGTCTGAAGGAGGCCAGTGCTGGGACCATGAATGAAGGGGGCTGGGGGCCAAGATTCCTGTATCCTGAGGGAGTCCAGGGTGGTACTGCTCCCCAAGTCCCATGGGTGGGGCTATTGGTCTCTGGGGATCCACTGCTTGTATTTCTCCTAATCTGCTTGGCATTAACCTCCTGCCAGGCTTTCAACACCCTTGGGGCAGTTTTCCCAGGTCCTGAGGCTGGGCAGCTGAGTCCAGTAAAAAACAGGGGCCCTGGAGAGGGACTGTGGGCAATGCCCCCGAGTCCCCGGGGCCTGGGAAGAACAGAGGCTGCCAAGTGCAGGGGGTGGTGGGGAGGGGAAGACCCTGGAGTAACAATCCCTGCTGTGTCCAC
|
TGTAGGTCCTTAATGGTGTCTGCAGAGCACCTCCCTGCACTGACTCAGCCTTAGCAAAGGGCAGAGGCTTTGCTGTGTTCCCTGCTGGGCCCAGAACTGTTTAGGTGCTCAAGAAAGCCTTCTAGGCTGGGCTCAGTGGCTCACACCTGTACTCCCAGCACCCTGGGGAGGCCGAGATGGGAGGATCGCTTGAGCCCAGGAGTTCCAGACCAGCCTGGGCAACAAAACAAGTCTCCCATCTCTACAAAAGAATAAAAATTAGCAGCTGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGCAAATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGGTGGGGCACAGTGGCTCAAGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGAAGTTCGAGACCAGCCTGGCCAGCATGGTGAAACCCCATCTCTACTAAAAATACAAAATATTAGCCGGGCATGGTGGCAGGTGCTTGTGATTCCAGCTCCTTGGGAGGCTGAGGCAGAAGAATTGCTAGAACCCTGGAGGCAGAGGTTGCAGTGAGCCGAGAACACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAATACGAAAACAAAAATCAGCCGGGTGGTGGCGGGTGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGGGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCATCTCAAAAAAGAAAAAAATAATAATTAAAATGTTAAAATCAGGAGTAGAATCACAGAATGTTGGAAAGTGAGGCCCAAGAAGGGGGCTGTGTCCAAGTCCATGCATGGGAAACTTGACTGGGACACCGAGCTCACACAGAGCAGGATCTCAGTCCCCCCCACCAGAGTGGGGCGTGACCACAGGAACAGCCGCCTCCAGTCAGCCTGCCACATGACACCCCCTCAATGTTCCAGGTCTCTGGACACTATGGGCACACGACTCCTCCCAGCTCTGTTTCTTGTCCTCCTGGTATTGGGATTTGGTGAGTGTGGGCTTCCGGGGAGGGAAGCCTTGGGGAGGGGAATGAGCTCCAAGCATCTTCCCAGCCCAGGCCCTTCTTACCTCTGCCTCTGCCCTCTCCTCTTCTTCCTTCCTCCTTTCCCCCTGCTGCAGCCCCACGGGCTCTCCTGACACACTCTCCCCCTGCAGAGGTCCAGGGGACCCAACAGCCCCAGCAAGATGAGATGCCTAGCCCGACCTTCCTCACCCAGGTGAAGGAATCTCTCTCCAGTTACTGGGAGTCAGCAAAGACAGCCGCCCAGAACCTGTACGAGAAGACATACCTGCCCGCTGTAGATGAGAAACTCAGGTAGCACCTGCCCCTGGAGAAATGGGGTCTGGCCCATACCACCGACTGCATCCAGGACCCAGAAGTTCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCGTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGACCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCTAACCATCTGTGCTTTCTCCCCAGGGACTTGTACAGCAAAAGCACAGCAGCCATGAGCACTTACACAGGCATTTTTACTGACCAAGTTCTTTCTGTGCTGAAGGGAGAGGAGTAACAGCCAGACCCCCCATCAGTGGACAAGGGGAGAGTCCCCTACTCCCCTGATCCCCCAGGTTCAGACTGAGCTCCCCCTTCCCAGTAGCTCTTGCATCCTCCTCCCAACTCTAGCCTGAATTCTTTTCAATAAAAAATACAATTCAAGTTGCTTCTCATGGATGGCACTGCTTTTCTGAGGACTCAAGGTGCCAAGATGGAGGGGCTGACTCAGTCCAGCCAACATTTAATGAGCACCTACTTTATGTATGGAGCTCTAACCCATGGGTCCATGGGAATAAAGCAGTGAATAGTAACAATAAATAATCGTAACAGCAATTAGAGACTAATCTTTATTGAAGTCCGGCTTTCTCTCTTTTATTTTTTTATTTTTTGAGACAGGGTTTCACTCTGTCACCCAGGCTGGACAGCAGTGGTGCAATCTCGGCTCACTGCACCCTCCGCCTCCCAGGTTCCAGCGATTCTGTGTGCCTCAGCCTCTGGAGTAGCTGGGATTATGGGCATGTGCCACTGTGCACGGCTAATGTTTGTATTTTTAGTAGGGTTTTGCCAGTTGGCTAGGCTGGTCTCAAACTTCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTACTGGGGTGACAGGCATGAGCCACCGCGCCATGCCAAAATCCAGCCTTCTCATTTGTAAAATAACAAATCATAGACACAGCTAGTCCACAGTGGCCTCTGACAGTCTCCAGTTGTTAACGGTGAATGGTGTCCAGGTTTTTGGCGTCCTGAACAAAGAACTGGACAAAACGCACAAACAAAGCAAGGAAGGAATGAAGGGATTTATTGAAAACGAACATACACTAAACAGTGTGGGAGCGGGCCCAAGCATATGGGTTCAAAAGCCCTGTTACAGAATTTTTGGGAGTTTAAATTCCCCCTAGAGGATTCCCCTTCCACTGGTTACTTCTGGTACACCCTATGTAAATGGAGAGGATGAAGAAAAGTTACAAAGTCATTTATGGCCTACCGGAGAGGATGTTTCCTGTTATAGCTGAAGTGAATTGGCCTTATGTTCCCTGCCTCCCTATTTTCCTGCCTTACAGTTGCTGGACTGACACATTTTTTATTTTATTTATTTTGTTTTGAGATAAGGTCTTGCTCTGTCGCCCAGGCTGAAGTGCAGTGGTGAGATCTTGGCTTACTGTAGCCTTGACCTTTTGGGCTCAAGAGATCCTCCCATCTCAGCCTCCCAAGTAGTTGGGACTAGGGATGCCCACTGCCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGTCAAGTTGCCTAGGCTAGTCTCCAATTCCTGGGCTCAAGCGATCTGCCCACCTTGCCCTTCCAAAGTGTTGGGATTACGGGTGTGAACCACCGCACCAGGCCTGGGCTGACACTTTAAACGTGCCATTGCAATCAGTGTATAATGGTCCCGTGGCAGAGGGAGAATGGTGCCCAAGTCAGTACTTCTTGGCTGGGACCCAAGAAGACAAACCTCTAGGGCCGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGTTGGCTGAGGTGGGCAGATCATCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTAATAAAAACACAAAAATTAGCTAGGGGTGGCCCGCGCCTGTAATCCCAGTTACCTGGAGGCTGAGGCAGGAGAATTGCTTGTACCCTGGAGGCGGAGATAGTGCCACTGCACTCCAGCCTGGGCAGCAGAGTGAGACTCCGTCTCTAAAAAAAAAAAAGAAAAACTTATTAAAAAAAAATTGCAAGCAAAAAGCACAGAAGGCAGAAGGTGCAAATAAGCAGAGGCTCCATGGTCTGAAGGAGGCCAGTGCTGGGACCATGAATGAAGGGGGCTGGGGGCCAAGATTCCTGTATCCTGAGGGAGTCCAGGGTGGTACTGCTCCCCAAGTCCCATGGGTGGGGCTATTGGTCTCTGGGGATCCACTGCTTGTATTTCTCCTAATCTGCTTGGCATTAACCTCCTGCCAGGCTTTCAACACCCTTGGGGCAGTTTTCCCAGGTCCTGAGGCTGGGCAGCTGAGTCCAGTAAAAAACAGGGGCCCTGGAGAGGGACTGTGGGCAATGCCCCCGAGTCCCCGGGGCCTGGGAAGAACAGAGGCTGCCAAGTGCAGGGGGTGGTGGGGAGGGGAAGACCCTGGAGTAACAATCCCTGCTGTGTCCA
|
benign
| 306,112 |
Chromosome 19, position 45352207, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Xeroderma_pigmentosum']
|
CGCTTGTAACCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGA
|
CGCTTGTAACCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAN
|
pathogenic
| 306,176 |
Mutation found at chromosome 19 position 45352239, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2']
|
GCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTG
|
GCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTC
|
pathogenic
| 306,184 |
Is the genetic change at chromosome 19, position 45352250, within gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum', 'Xeroderma_pigmentosum,_group_D']
|
ACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCT
|
ACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTNNNNNNNN
|
pathogenic
| 306,186 |
Chromosome 19, position 45352350, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum,_group_D']
|
TGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCA
|
TGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCANNNNNNNNNNNNNNN
|
pathogenic
| 306,203 |
A genetic variant on chromosome 19, position 45352542, affects the gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2']
|
TCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACC
|
TCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCN
|
pathogenic
| 306,213 |
Chromosome 19, position 45352545, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum,_group_D']
|
CCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCA
|
CCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCTCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCC
|
pathogenic
| 306,214 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 45352545, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): what disease(s) if pathogenic?
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2']
|
CCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCA
|
CCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCANN
|
pathogenic
| 306,215 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 45352546, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum', 'Xeroderma_pigmentosum,_group_D']
|
CCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCAT
|
CCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATN
|
pathogenic
| 306,216 |
For chromosome 19, position 45352566, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum,_group_D']
|
CCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACT
|
CCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTNN
|
pathogenic
| 306,220 |
Variant on chromosome 19, at position 45352758, affecting ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2']
|
TCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACC
|
TCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCNN
|
pathogenic
| 306,235 |
Determine whether the variant at chromosome 19, position 45352776, in gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum', 'Xeroderma_pigmentosum,_group_D']
|
GCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGC
|
GCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGA
|
pathogenic
| 306,238 |
Considering the variant on chromosome 19, location 45352780, involving gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Trichothiodystrophy', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum,_group_D']
|
CGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGA
|
CGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACCGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGG
|
pathogenic
| 306,239 |
Clinical significance of chromosome 19, position 45352782, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2']
|
GCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGG
|
GCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGN
|
pathogenic
| 306,240 |
The mutation in gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) at chromosome 19, position 45352788—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2']
|
GCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCA
|
GCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCANNN
|
pathogenic
| 306,241 |
Variant on chromosome 19, at position 45352797, affecting ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum,_group_D']
|
TGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCATAGTTCCGG
|
TGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCATAGTTCCGGNNNN
|
pathogenic
| 306,243 |
Variant at chromosome position 45353086, chromosome 19, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2']
|
AAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCATAGTTCCGGATCACAGCTGCAAGGGGTCAGAGGTTGGGCCCTCTCCTGGCCCAGGTCCTCCTCCCTTCTCTGTCTTAGAACTAGGAGTTTCTGGAAACCCCACTGAGGCTGCCTGTCAGGCTTTTCACACATATCCCCCTCCTCCTCCTCCCGGGCGTGTCTGAGGACCCGCCTTGCCACTTCCTGAAGTCACACCTGGCTATGTGATTTGCCATGGCCAATGAAATGAGTGCAGAAGGGGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGG
|
AAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAATCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCATAGTTCCGGATCACAGCTGCAAGGGGTCAGAGGTTGGGCCCTCTCCTGGCCCAGGTCCTCCTCCCTTCTCTGTCTTAGAACTAGGAGTTTCTGGAAACCCCACTGAGGCTGCCTGTCAGGCTTTTCACACATATCCCCCTCCTCCTCCTCCCGGGCGTGTCTGAGGACCCGCCTTGCCACTTCCTGAAGTCACACCTGGCTATGTGATTTGCCATGGCCAATGAAATGAGTGCAGAAGGGGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGN
|
pathogenic
| 306,254 |
Considering the genetic mutation at chromosome 19, position 45353258, impacting ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2']
|
TGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCATAGTTCCGGATCACAGCTGCAAGGGGTCAGAGGTTGGGCCCTCTCCTGGCCCAGGTCCTCCTCCCTTCTCTGTCTTAGAACTAGGAGTTTCTGGAAACCCCACTGAGGCTGCCTGTCAGGCTTTTCACACATATCCCCCTCCTCCTCCTCCCGGGCGTGTCTGAGGACCCGCCTTGCCACTTCCTGAAGTCACACCTGGCTATGTGATTTGCCATGGCCAATGAAATGAGTGCAGAAGGGGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATCTGAAGTCAGGAGTTTGAGATCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCCAGCGTGGCGGCAGAGGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGCAAGGCAGAGACTGCAGTGAGCC
|
TGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCATAGTTCCGGATCACAGCTGCAAGGGGTCAGAGGTTGGGCCCTCTCCTGGCCCAGGTCCTCCTCCCTTCTCTGTCTTAGAACTAGGAGTTTCTGGAAACCCCACTGAGGCTGCCTGTCAGGCTTTTCACACATATCCCCCTCCTCCTCCTCCCGGGCGTGTCTGAGGACCCGCCTTGCCACTTCCTGAAGTCACACCTGGCTATGTGATTTGCCATGGCCAATGAAATGAGTGCAGAAGGGGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATCTGAAGTCAGGAGTTTGAGATCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCCAGCGTGGCGGCAGAGGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGCAAGGCAGAGACTGCAGTGAGCCNNNNNNNNNN
|
pathogenic
| 306,273 |
A genetic variant at chromosome 19, position 45353292, affecting gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic
|
CCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCATAGTTCCGGATCACAGCTGCAAGGGGTCAGAGGTTGGGCCCTCTCCTGGCCCAGGTCCTCCTCCCTTCTCTGTCTTAGAACTAGGAGTTTCTGGAAACCCCACTGAGGCTGCCTGTCAGGCTTTTCACACATATCCCCCTCCTCCTCCTCCCGGGCGTGTCTGAGGACCCGCCTTGCCACTTCCTGAAGTCACACCTGGCTATGTGATTTGCCATGGCCAATGAAATGAGTGCAGAAGGGGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATCTGAAGTCAGGAGTTTGAGATCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCCAGCGTGGCGGCAGAGGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGCAAGGCAGAGACTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTAGGCAACA
|
CCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCATAGTTCCGGATCACAGCTGCAAGGGGTCAGAGGTTGGGCCCTCTCCTGGCCCAGGTCCTCCTCCCTTCTCTGTCTTAGAACTAGGAGTTTCTGGAAACCCCACTGAGGCTGCCTGTCAGGCTTTTCACACATATCCCCCTCCTCCTCCTCCCGGGCGTGTCTGAGGACCCGCCTTGCCACTTCCTGAAGTCACACCTGGCTATGTGATTTGCCATGGCCAATGAAATGAGTGCAGAAGGGGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATCTGAAGTCAGGAGTTTGAGATCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCCAGCGTGGCGGCAGAGGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGCAAGGCAGAGACTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTAGGCAACAN
|
pathogenic
| 306,280 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 45353295, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): what disease(s) if pathogenic?
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'ERCC2-related_disorder', 'Inborn_genetic_diseases', 'Leukodystrophy', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum', 'Xeroderma_pigmentosum,_group_D', 'likely other unspecified diseases']
|
CTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCATAGTTCCGGATCACAGCTGCAAGGGGTCAGAGGTTGGGCCCTCTCCTGGCCCAGGTCCTCCTCCCTTCTCTGTCTTAGAACTAGGAGTTTCTGGAAACCCCACTGAGGCTGCCTGTCAGGCTTTTCACACATATCCCCCTCCTCCTCCTCCCGGGCGTGTCTGAGGACCCGCCTTGCCACTTCCTGAAGTCACACCTGGCTATGTGATTTGCCATGGCCAATGAAATGAGTGCAGAAGGGGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATCTGAAGTCAGGAGTTTGAGATCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCCAGCGTGGCGGCAGAGGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGCAAGGCAGAGACTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTAGGCAACAGAG
|
CTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCATAGTTCCGGATCACAGCTGCAAGGGGTCAGAGGTTGGGCCCTCTCCTGGCCCAGGTCCTCCTCCCTTCTCTGTCTTAGAACTAGGAGTTTCTGGAAACCCCACTGAGGCTGCCTGTCAGGCTTTTCACACATATCCCCCTCCTCCTCCTCCCGGGCGTGTCTGAGGACCCGCCTTGCCACTTCCTGAAGTCACACCTGGCTATGTGATTTGCCATGGCCAATGAAATGAGTGCAGAAGGGGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATCTGAAGTCAGGAGTTTGAGATCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCCAGCGTGGCGGCAGAGGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGCAAGGCAGAGACTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTAGGCAACAGAGNN
|
pathogenic
| 306,281 |
Gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) variant at chromosome 19, position 45357472—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2']
|
CTGTGATCCCACCTGTCACATTATGCTGCCTCTGACACACCCAGCGGTGGAGGTTCCCAGGTGAGGAGACACAGGGCAGGCCCCTACCAGCTCACAGTGGACGTGTACCACGGGCAAGAAGGAAACTCTGGGCTGAGCAACTAAGGCCAGGGATATTTGTTACAGCAGCATGACTCAGCCCACCTGACTGATACACCTCCCCTCTTGGAACCCACAGAAACCAGCCCCACTGGCAGCATACCAATATCCTCCCGGGTCTCAAATTTGGAGCTGATGGCCACCTGGTCATTGCCACGGCCGATGATCTGGAGAGCAACAGAGGTCACGATAAGCGAGGCAGCAGCAACTGCTCCAGCGTGAGTGCTGACCACCTGCTGGTGCTGTTCTAAGCTTTTTTTTTTTTTTTTTTTAAAGAGAGACAGGGTGTCACCATGTTGCCCAGGCTGATCTTGAACACCTGGCCTCAAGTGACCATCCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAAGCATGAGCCACCACACCCAGTCTGCTCTAAACTTTTTATAAACACAGTGTCATTGAATGAACCCTCAGCAACCCTGTTATCTGCATTGCACAAATGACCTGGGCTCAGAGAAGGTGAGTTGCCTGCCCAAGGTCACACAGCAAACAGGTGGCAAAGATGGAACCGGACCCGAGTCTGTCCACACTCTCCAACAGCAGCTACACTCTAGCCAGCCCCAGGCCCTGGGCCAGCCGGATCCCGAAGAACACCCCTCGCCATGCCGGCGGGCATCCCACCAGCCGGCAACCTCACACAACCACCATGCAGTGGGGGTCATTACCGGTCCACAACCTCTGACAGGCAACTCCAAAAGCCAAAAGCTCTGAACACATTTCTTTTTCAAGTTTGGCACAAACTCATGAAGCAGCAAAACCTGCCCTGCCCCGAGTCTCTCCAGAGGCCTGACTTACTCCTTAGTGTGATGCTTCCCAATCTTTTACTGCCGAAATGGGAGTTTGACTCGGGGGAGCTGCCCAGACCCCACTGTGGGCATCACACACCACACAGCATAGGCCTTGTCTCTAAAGGCTGGAAAATTCTGAATTCCAAAACAAATGGCTGCGCGCAGTGGCTTACACCTGTAATCCCAGCACTTCGGGAGGACCAGGCGGGCGGATCACTTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAATTACAAAAATTAGCTGGGCATCGTGGCACATGCCTGTACCAGCTACTCAGGAGGCTGAAGCATCAGAATCACCTGAATCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCGCACAACAAAAACAAAAAACCACATCCAGCCTGGGGACTTCAGATAAGGGACTGAGGGCTCATGTTGACATGCACGTGTTACAGAGACGGAGACGGAGAGGAAGGCTCACTTACCTGGGTCACAGCCAGACCACGTACTCGGCAAGATGCTAAGATGCTGACTAAGCGCCTACCTGTGCCAGGCCCTGGGCGACCTAAGTGGTTTACCCCAGTTCTCTCTCTCAATCCTCTCAACCACCCTGGGAGATCAGGGAGGATACATTCCCATTTCACAGATGAGAAAACTGAGGCTTGAGAGTCGAGCCCACAGAGAAGCAGAATCAAGCCTAAGTCTGTCTGAATCCCGAACCCAGCCTCTTCGCTGTAAAGCTCTCCTGCCTGAGCAGTGGGGGAAGCCAAGGAAGGAGGGCGGCCCCTTGCCCCCATCTCCCCTCCCGGCCCCAGCCCTAGCCTCTCCCACTCACCATAGGGCAGAGGCAGACCCGTGCCAGCGTCATGGTGAAGGTTGCCATGGTGACGGGGTGGAAGTCCAGGATCTTGGGGTAGATGTCCAGCGGGGACAGTGTCTGTGGCGGGACAGTGGGAGGGATCTCAGCAGGACTGGGCAGGGACCAGGAGGCCCATGGAGGGAGGTCAGGGACTAGGAGGGGACGGGGAAGGGTCCTTACCCCAGATGTGATGATGACAGACTGGAAACGCTCAAATACGGGTTTGATGGCCAGCGAGGCGTCCATGCAGCTGGAGAGAGATGAGGGCAGTGAGGGCCCGGGGGGCTGGGCCCCCGACCCACAGAGCATTCACACCCTCACCGGGCAGGGTCCCACCTGAAGTGCAGGATGGGGTTGGCAATGGTCGGGGTTCTGTCGTCAAAGGGCTCGATGATGATGGTGAAGCCTGCAGAGGGCAGGCAAGGAGGGGTGAGATTACCCCACTACAGCCACAGCTGCACCCACTCAGTCATTCCCTCTCCTGCTCCCTCGCTTCACCCCAATCTCCACCCCGTACTGCCTGGGAGTAAATGCGACCAAACATGACTGCTTAAGCCCCAAACCAGGCATCTGAGTCCAAAATACACCCCAACCTGTCCGCTTCGGGCCCACACCTGTGCAAACTTTCACGAAGGATCCCAAGTAGAGAGCCCACAGCCCCGCCCACTGCTCACTCTCCCAGCACCGCATGGGCTGCCCAGCACCCACGCCAAAGCCAGGAGCCAGAGCCTCAAGCTTTCTCCCATGACCTTTTCTTGTTTTTGTTTTTTGAGATGGAGCCTCGCGCTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCAGCCTCCTGGGTTCAAGTGATTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTATAGGGACACCCCCCTACAACACACCCAGCTAATTTCTACATTTTTAGTAGAGATGGGGGACCTGCAGTGGTCCACCCGCCTCAGGCTCCCAAAGTGCCAGGATTACAAGTATGAGCCACTGCACCTGGCCTCCCACGACCTTTCTACCTAAGCCATCAGCAAAGCCGGGCAGCTCTGCCTCCAAAACCTACCTGCAATTCGCCCACTGCCCCCGACCCCACGCGGGGCCAGCCACCATCACCTCCTGCCTGGACCCATCATCCCCTGCTCGCTTCACGGCAGCCAGAGGGACCCTAGGGAAACCTGAGTCCCTGAGTCCAGCCATGTCACCTCCCCGCCCCAAGAAGCCTCCCATGGCCCCCACATGCCTCCAGTGGCCTGGTGCCTGACCTTCAAAAATCAGCAGGCTCAGTCCCCCCAGGGCCTTTATACTTGCTGGTCCCATGTGGCCTGGAAAACCTCCCAAGGCTGCTCCATTTGGTCATCTGAGACTGCTCAAAAGTCAGCCCCTCCGAGAGGCCCTCCCCAGCCACCTTTTCTACGCAGACATATTCCAACACAACAATGTATTTTTTTTCATGATAACTGTCACTTTCTGGAATTATTTCCTTGTTTATTTGGCTGCATCTTTGCTACTGGTTTTCCCATCTGGAATATAAGTTCTGGGGGGTTAGGGATGAGATCTTTTTTGGTTCCTGCTGCTTCCACAGTGCTGAGCCTGGCCTGTTTGTTGAAGAAATAAATGAATGAATGAATTTACATATTCGGTTTCACACAGTGAAAAAAAATCAAGTCCTCTGTGCTGGGGACACAGTGGTGACCAAGCCAGCCTTGCCCCTGCTCGCATGGGTTCGCAGTCCAGTAGGAGACAGACTTGTCCTCAGATAGTGATGACTGAGAGTGGGCAGTGCTGGGACAGAGGTGCCCAGAGGAGGGGCCTGACTCAGCCTGGGGGTCAGGGAGGGCTTCCTGGAGGACAAGACATCTCTACTAAGCTGAGAACCTAAGGATGAGGGGGAGGTGGTTGGGGGATGAGGAAGATGAGGAAGGATGATCCAGGTGAAAGACCATGAGGTGTTGGCAGATGGGAAATAGTGGGTAGAGAATGACAAAGGTAGGGATGGAAGATGGGGCAGGACAGAGAGACAGAGGCAGAAGCAGCAGCCAGCCGGCCTCGCTACCCAGCCCCAGGGCAAGGGCCCAGATCTCCATCCTCCTGTCAGGCCCTGCCGCAGGACATGAGGCCCGATCTGGTTTCCTGGGTACAGGAGAAACCCCCAGGAGGCAGACTGAGCCCCTGGTCAGCTTCACGCTGAGGATGGGGAGGGAA
|
CTGTGATCCCACCTGTCACATTATGCTGCCTCTGACACACCCAGCGGTGGAGGTTCCCAGGTGAGGAGACACAGGGCAGGCCCCTACCAGCTCACAGTGGACGTGTACCACGGGCAAGAAGGAAACTCTGGGCTGAGCAACTAAGGCCAGGGATATTTGTTACAGCAGCATGACTCAGCCCACCTGACTGATACACCTCCCCTCTTGGAACCCACAGAAACCAGCCCCACTGGCAGCATACCAATATCCTCCCGGGTCTCAAATTTGGAGCTGATGGCCACCTGGTCATTGCCACGGCCGATGATCTGGAGAGCAACAGAGGTCACGATAAGCGAGGCAGCAGCAACTGCTCCAGCGTGAGTGCTGACCACCTGCTGGTGCTGTTCTAAGCTTTTTTTTTTTTTTTTTTTAAAGAGAGACAGGGTGTCACCATGTTGCCCAGGCTGATCTTGAACACCTGGCCTCAAGTGACCATCCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAAGCATGAGCCACCACACCCAGTCTGCTCTAAACTTTTTATAAACACAGTGTCATTGAATGAACCCTCAGCAACCCTGTTATCTGCATTGCACAAATGACCTGGGCTCAGAGAAGGTGAGTTGCCTGCCCAAGGTCACACAGCAAACAGGTGGCAAAGATGGAACCGGACCCGAGTCTGTCCACACTCTCCAACAGCAGCTACACTCTAGCCAGCCCCAGGCCCTGGGCCAGCCGGATCCCGAAGAACACCCCTCGCCATGCCGGCGGGCATCCCACCAGCCGGCAACCTCACACAACCACCATGCAGTGGGGGTCATTACCGGTCCACAACCTCTGACAGGCAACTCCAAAAGCCAAAAGCTCTGAACACATTTCTTTTTCAAGTTTGGCACAAACTCATGAAGCAGCAAAACCTGCCCTGCCCCGAGTCTCTCCAGAGGCCTGACTTACTCCTTAGTGTGATGCTTCCCAATCTTTTACTGCCGAAATGGGAGTTTGACTCGGGGGAGCTGCCCAGACCCCACTGTGGGCATCACACACCACACAGCATAGGCCTTGTCTCTAAAGGCTGGAAAATTCTGAATTCCAAAACAAATGGCTGCGCGCAGTGGCTTACACCTGTAATCCCAGCACTTCGGGAGGACCAGGCGGGCGGATCACTTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAATTACAAAAATTAGCTGGGCATCGTGGCACATGCCTGTACCAGCTACTCAGGAGGCTGAAGCATCAGAATCACCTGAATCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCGCACAACAAAAACAAAAAACCACATCCAGCCTGGGGACTTCAGATAAGGGACTGAGGGCTCATGTTGACATGCACGTGTTACAGAGACGGAGACGGAGAGGAAGGCTCACTTACCTGGGTCACAGCCAGACCACGTACTCGGCAAGATGCTAAGATGCTGACTAAGCGCCTACCTGTGCCAGGCCCTGGGCGACCTAAGTGGTTTACCCCAGTTCTCTCTCTCAATCCTCTCAACCACCCTGGGAGATCAGGGAGGATACATTCCCATTTCACAGATGAGAAAACTGAGGCTTGAGAGTCGAGCCCACAGAGAAGCAGAATCAAGCCTAAGTCTGTCTGAATCCCGAACCCAGCCTCTTCGCTGTAAAGCTCTCCTGCCTGAGCAGTGGGGGAAGCCAAGGAAGGAGGGCGGCCCCTTGCCCCCATCTCCCCTCCCGGCCCCAGCCCTAGCCTCTCCCACTCACCATAGGGCAGAGGCAGACCCGTGCCAGCGTCATGGTGAAGGTTGCCATGGTGACGGGGTGGAAGTCCAGGATCTTGGGGTAGATGTCCAGCGGGGACAGTGTCTGTGGCGGGACAGTGGGAGGGATCTCAGCAGGACTGGGCAGGGACCAGGAGGCCCATGGAGGGAGGTCAGGGACTAGGAGGGGACGGGGAAGGGTCCTTACCCCCAGATGTGATGATGACAGACTGGAAACGCTCAAATACGGGTTTGATGGCCAGCGAGGCGTCCATGCAGCTGGAGAGAGATGAGGGCAGTGAGGGCCCGGGGGGCTGGGCCCCCGACCCACAGAGCATTCACACCCTCACCGGGCAGGGTCCCACCTGAAGTGCAGGATGGGGTTGGCAATGGTCGGGGTTCTGTCGTCAAAGGGCTCGATGATGATGGTGAAGCCTGCAGAGGGCAGGCAAGGAGGGGTGAGATTACCCCACTACAGCCACAGCTGCACCCACTCAGTCATTCCCTCTCCTGCTCCCTCGCTTCACCCCAATCTCCACCCCGTACTGCCTGGGAGTAAATGCGACCAAACATGACTGCTTAAGCCCCAAACCAGGCATCTGAGTCCAAAATACACCCCAACCTGTCCGCTTCGGGCCCACACCTGTGCAAACTTTCACGAAGGATCCCAAGTAGAGAGCCCACAGCCCCGCCCACTGCTCACTCTCCCAGCACCGCATGGGCTGCCCAGCACCCACGCCAAAGCCAGGAGCCAGAGCCTCAAGCTTTCTCCCATGACCTTTTCTTGTTTTTGTTTTTTGAGATGGAGCCTCGCGCTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCAGCCTCCTGGGTTCAAGTGATTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTATAGGGACACCCCCCTACAACACACCCAGCTAATTTCTACATTTTTAGTAGAGATGGGGGACCTGCAGTGGTCCACCCGCCTCAGGCTCCCAAAGTGCCAGGATTACAAGTATGAGCCACTGCACCTGGCCTCCCACGACCTTTCTACCTAAGCCATCAGCAAAGCCGGGCAGCTCTGCCTCCAAAACCTACCTGCAATTCGCCCACTGCCCCCGACCCCACGCGGGGCCAGCCACCATCACCTCCTGCCTGGACCCATCATCCCCTGCTCGCTTCACGGCAGCCAGAGGGACCCTAGGGAAACCTGAGTCCCTGAGTCCAGCCATGTCACCTCCCCGCCCCAAGAAGCCTCCCATGGCCCCCACATGCCTCCAGTGGCCTGGTGCCTGACCTTCAAAAATCAGCAGGCTCAGTCCCCCCAGGGCCTTTATACTTGCTGGTCCCATGTGGCCTGGAAAACCTCCCAAGGCTGCTCCATTTGGTCATCTGAGACTGCTCAAAAGTCAGCCCCTCCGAGAGGCCCTCCCCAGCCACCTTTTCTACGCAGACATATTCCAACACAACAATGTATTTTTTTTCATGATAACTGTCACTTTCTGGAATTATTTCCTTGTTTATTTGGCTGCATCTTTGCTACTGGTTTTCCCATCTGGAATATAAGTTCTGGGGGGTTAGGGATGAGATCTTTTTTGGTTCCTGCTGCTTCCACAGTGCTGAGCCTGGCCTGTTTGTTGAAGAAATAAATGAATGAATGAATTTACATATTCGGTTTCACACAGTGAAAAAAAATCAAGTCCTCTGTGCTGGGGACACAGTGGTGACCAAGCCAGCCTTGCCCCTGCTCGCATGGGTTCGCAGTCCAGTAGGAGACAGACTTGTCCTCAGATAGTGATGACTGAGAGTGGGCAGTGCTGGGACAGAGGTGCCCAGAGGAGGGGCCTGACTCAGCCTGGGGGTCAGGGAGGGCTTCCTGGAGGACAAGACATCTCTACTAAGCTGAGAACCTAAGGATGAGGGGGAGGTGGTTGGGGGATGAGGAAGATGAGGAAGGATGATCCAGGTGAAAGACCATGAGGTGTTGGCAGATGGGAAATAGTGGGTAGAGAATGACAAAGGTAGGGATGGAAGATGGGGCAGGACAGAGAGACAGAGGCAGAAGCAGCAGCCAGCCGGCCTCGCTACCCAGCCCCAGGGCAAGGGCCCAGATCTCCATCCTCCTGTCAGGCCCTGCCGCAGGACATGAGGCCCGATCTGGTTTCCTGGGTACAGGAGAAACCCCCAGGAGGCAGACTGAGCCCCTGGTCAGCTTCACGCTGAGGATGGGGAGGGA
|
pathogenic
| 306,337 |
Gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) variant at chromosome 19, position 45357481—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Craniopharyngioma', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum', 'Xeroderma_pigmentosum,_group_D']
|
CACCTGTCACATTATGCTGCCTCTGACACACCCAGCGGTGGAGGTTCCCAGGTGAGGAGACACAGGGCAGGCCCCTACCAGCTCACAGTGGACGTGTACCACGGGCAAGAAGGAAACTCTGGGCTGAGCAACTAAGGCCAGGGATATTTGTTACAGCAGCATGACTCAGCCCACCTGACTGATACACCTCCCCTCTTGGAACCCACAGAAACCAGCCCCACTGGCAGCATACCAATATCCTCCCGGGTCTCAAATTTGGAGCTGATGGCCACCTGGTCATTGCCACGGCCGATGATCTGGAGAGCAACAGAGGTCACGATAAGCGAGGCAGCAGCAACTGCTCCAGCGTGAGTGCTGACCACCTGCTGGTGCTGTTCTAAGCTTTTTTTTTTTTTTTTTTTAAAGAGAGACAGGGTGTCACCATGTTGCCCAGGCTGATCTTGAACACCTGGCCTCAAGTGACCATCCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAAGCATGAGCCACCACACCCAGTCTGCTCTAAACTTTTTATAAACACAGTGTCATTGAATGAACCCTCAGCAACCCTGTTATCTGCATTGCACAAATGACCTGGGCTCAGAGAAGGTGAGTTGCCTGCCCAAGGTCACACAGCAAACAGGTGGCAAAGATGGAACCGGACCCGAGTCTGTCCACACTCTCCAACAGCAGCTACACTCTAGCCAGCCCCAGGCCCTGGGCCAGCCGGATCCCGAAGAACACCCCTCGCCATGCCGGCGGGCATCCCACCAGCCGGCAACCTCACACAACCACCATGCAGTGGGGGTCATTACCGGTCCACAACCTCTGACAGGCAACTCCAAAAGCCAAAAGCTCTGAACACATTTCTTTTTCAAGTTTGGCACAAACTCATGAAGCAGCAAAACCTGCCCTGCCCCGAGTCTCTCCAGAGGCCTGACTTACTCCTTAGTGTGATGCTTCCCAATCTTTTACTGCCGAAATGGGAGTTTGACTCGGGGGAGCTGCCCAGACCCCACTGTGGGCATCACACACCACACAGCATAGGCCTTGTCTCTAAAGGCTGGAAAATTCTGAATTCCAAAACAAATGGCTGCGCGCAGTGGCTTACACCTGTAATCCCAGCACTTCGGGAGGACCAGGCGGGCGGATCACTTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAATTACAAAAATTAGCTGGGCATCGTGGCACATGCCTGTACCAGCTACTCAGGAGGCTGAAGCATCAGAATCACCTGAATCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCGCACAACAAAAACAAAAAACCACATCCAGCCTGGGGACTTCAGATAAGGGACTGAGGGCTCATGTTGACATGCACGTGTTACAGAGACGGAGACGGAGAGGAAGGCTCACTTACCTGGGTCACAGCCAGACCACGTACTCGGCAAGATGCTAAGATGCTGACTAAGCGCCTACCTGTGCCAGGCCCTGGGCGACCTAAGTGGTTTACCCCAGTTCTCTCTCTCAATCCTCTCAACCACCCTGGGAGATCAGGGAGGATACATTCCCATTTCACAGATGAGAAAACTGAGGCTTGAGAGTCGAGCCCACAGAGAAGCAGAATCAAGCCTAAGTCTGTCTGAATCCCGAACCCAGCCTCTTCGCTGTAAAGCTCTCCTGCCTGAGCAGTGGGGGAAGCCAAGGAAGGAGGGCGGCCCCTTGCCCCCATCTCCCCTCCCGGCCCCAGCCCTAGCCTCTCCCACTCACCATAGGGCAGAGGCAGACCCGTGCCAGCGTCATGGTGAAGGTTGCCATGGTGACGGGGTGGAAGTCCAGGATCTTGGGGTAGATGTCCAGCGGGGACAGTGTCTGTGGCGGGACAGTGGGAGGGATCTCAGCAGGACTGGGCAGGGACCAGGAGGCCCATGGAGGGAGGTCAGGGACTAGGAGGGGACGGGGAAGGGTCCTTACCCCAGATGTGATGATGACAGACTGGAAACGCTCAAATACGGGTTTGATGGCCAGCGAGGCGTCCATGCAGCTGGAGAGAGATGAGGGCAGTGAGGGCCCGGGGGGCTGGGCCCCCGACCCACAGAGCATTCACACCCTCACCGGGCAGGGTCCCACCTGAAGTGCAGGATGGGGTTGGCAATGGTCGGGGTTCTGTCGTCAAAGGGCTCGATGATGATGGTGAAGCCTGCAGAGGGCAGGCAAGGAGGGGTGAGATTACCCCACTACAGCCACAGCTGCACCCACTCAGTCATTCCCTCTCCTGCTCCCTCGCTTCACCCCAATCTCCACCCCGTACTGCCTGGGAGTAAATGCGACCAAACATGACTGCTTAAGCCCCAAACCAGGCATCTGAGTCCAAAATACACCCCAACCTGTCCGCTTCGGGCCCACACCTGTGCAAACTTTCACGAAGGATCCCAAGTAGAGAGCCCACAGCCCCGCCCACTGCTCACTCTCCCAGCACCGCATGGGCTGCCCAGCACCCACGCCAAAGCCAGGAGCCAGAGCCTCAAGCTTTCTCCCATGACCTTTTCTTGTTTTTGTTTTTTGAGATGGAGCCTCGCGCTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCAGCCTCCTGGGTTCAAGTGATTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTATAGGGACACCCCCCTACAACACACCCAGCTAATTTCTACATTTTTAGTAGAGATGGGGGACCTGCAGTGGTCCACCCGCCTCAGGCTCCCAAAGTGCCAGGATTACAAGTATGAGCCACTGCACCTGGCCTCCCACGACCTTTCTACCTAAGCCATCAGCAAAGCCGGGCAGCTCTGCCTCCAAAACCTACCTGCAATTCGCCCACTGCCCCCGACCCCACGCGGGGCCAGCCACCATCACCTCCTGCCTGGACCCATCATCCCCTGCTCGCTTCACGGCAGCCAGAGGGACCCTAGGGAAACCTGAGTCCCTGAGTCCAGCCATGTCACCTCCCCGCCCCAAGAAGCCTCCCATGGCCCCCACATGCCTCCAGTGGCCTGGTGCCTGACCTTCAAAAATCAGCAGGCTCAGTCCCCCCAGGGCCTTTATACTTGCTGGTCCCATGTGGCCTGGAAAACCTCCCAAGGCTGCTCCATTTGGTCATCTGAGACTGCTCAAAAGTCAGCCCCTCCGAGAGGCCCTCCCCAGCCACCTTTTCTACGCAGACATATTCCAACACAACAATGTATTTTTTTTCATGATAACTGTCACTTTCTGGAATTATTTCCTTGTTTATTTGGCTGCATCTTTGCTACTGGTTTTCCCATCTGGAATATAAGTTCTGGGGGGTTAGGGATGAGATCTTTTTTGGTTCCTGCTGCTTCCACAGTGCTGAGCCTGGCCTGTTTGTTGAAGAAATAAATGAATGAATGAATTTACATATTCGGTTTCACACAGTGAAAAAAAATCAAGTCCTCTGTGCTGGGGACACAGTGGTGACCAAGCCAGCCTTGCCCCTGCTCGCATGGGTTCGCAGTCCAGTAGGAGACAGACTTGTCCTCAGATAGTGATGACTGAGAGTGGGCAGTGCTGGGACAGAGGTGCCCAGAGGAGGGGCCTGACTCAGCCTGGGGGTCAGGGAGGGCTTCCTGGAGGACAAGACATCTCTACTAAGCTGAGAACCTAAGGATGAGGGGGAGGTGGTTGGGGGATGAGGAAGATGAGGAAGGATGATCCAGGTGAAAGACCATGAGGTGTTGGCAGATGGGAAATAGTGGGTAGAGAATGACAAAGGTAGGGATGGAAGATGGGGCAGGACAGAGAGACAGAGGCAGAAGCAGCAGCCAGCCGGCCTCGCTACCCAGCCCCAGGGCAAGGGCCCAGATCTCCATCCTCCTGTCAGGCCCTGCCGCAGGACATGAGGCCCGATCTGGTTTCCTGGGTACAGGAGAAACCCCCAGGAGGCAGACTGAGCCCCTGGTCAGCTTCACGCTGAGGATGGGGAGGGAACACCGGCCC
|
CACCTGTCACATTATGCTGCCTCTGACACACCCAGCGGTGGAGGTTCCCAGGTGAGGAGACACAGGGCAGGCCCCTACCAGCTCACAGTGGACGTGTACCACGGGCAAGAAGGAAACTCTGGGCTGAGCAACTAAGGCCAGGGATATTTGTTACAGCAGCATGACTCAGCCCACCTGACTGATACACCTCCCCTCTTGGAACCCACAGAAACCAGCCCCACTGGCAGCATACCAATATCCTCCCGGGTCTCAAATTTGGAGCTGATGGCCACCTGGTCATTGCCACGGCCGATGATCTGGAGAGCAACAGAGGTCACGATAAGCGAGGCAGCAGCAACTGCTCCAGCGTGAGTGCTGACCACCTGCTGGTGCTGTTCTAAGCTTTTTTTTTTTTTTTTTTTAAAGAGAGACAGGGTGTCACCATGTTGCCCAGGCTGATCTTGAACACCTGGCCTCAAGTGACCATCCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAAGCATGAGCCACCACACCCAGTCTGCTCTAAACTTTTTATAAACACAGTGTCATTGAATGAACCCTCAGCAACCCTGTTATCTGCATTGCACAAATGACCTGGGCTCAGAGAAGGTGAGTTGCCTGCCCAAGGTCACACAGCAAACAGGTGGCAAAGATGGAACCGGACCCGAGTCTGTCCACACTCTCCAACAGCAGCTACACTCTAGCCAGCCCCAGGCCCTGGGCCAGCCGGATCCCGAAGAACACCCCTCGCCATGCCGGCGGGCATCCCACCAGCCGGCAACCTCACACAACCACCATGCAGTGGGGGTCATTACCGGTCCACAACCTCTGACAGGCAACTCCAAAAGCCAAAAGCTCTGAACACATTTCTTTTTCAAGTTTGGCACAAACTCATGAAGCAGCAAAACCTGCCCTGCCCCGAGTCTCTCCAGAGGCCTGACTTACTCCTTAGTGTGATGCTTCCCAATCTTTTACTGCCGAAATGGGAGTTTGACTCGGGGGAGCTGCCCAGACCCCACTGTGGGCATCACACACCACACAGCATAGGCCTTGTCTCTAAAGGCTGGAAAATTCTGAATTCCAAAACAAATGGCTGCGCGCAGTGGCTTACACCTGTAATCCCAGCACTTCGGGAGGACCAGGCGGGCGGATCACTTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAATTACAAAAATTAGCTGGGCATCGTGGCACATGCCTGTACCAGCTACTCAGGAGGCTGAAGCATCAGAATCACCTGAATCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCGCACAACAAAAACAAAAAACCACATCCAGCCTGGGGACTTCAGATAAGGGACTGAGGGCTCATGTTGACATGCACGTGTTACAGAGACGGAGACGGAGAGGAAGGCTCACTTACCTGGGTCACAGCCAGACCACGTACTCGGCAAGATGCTAAGATGCTGACTAAGCGCCTACCTGTGCCAGGCCCTGGGCGACCTAAGTGGTTTACCCCAGTTCTCTCTCTCAATCCTCTCAACCACCCTGGGAGATCAGGGAGGATACATTCCCATTTCACAGATGAGAAAACTGAGGCTTGAGAGTCGAGCCCACAGAGAAGCAGAATCAAGCCTAAGTCTGTCTGAATCCCGAACCCAGCCTCTTCGCTGTAAAGCTCTCCTGCCTGAGCAGTGGGGGAAGCCAAGGAAGGAGGGCGGCCCCTTGCCCCCATCTCCCCTCCCGGCCCCAGCCCTAGCCTCTCCCACTCACCATAGGGCAGAGGCAGACCCGTGCCAGCGTCATGGTGAAGGTTGCCATGGTGACGGGGTGGAAGTCCAGGATCTTGGGGTAGATGTCCAGCGGGGACAGTGTCTGTGGCGGGACAGTGGGAGGGATCTCAGCAGGACTGGGCAGGGACCAGGAGGCCCATGGAGGGAGGTCAGGGACTAGGAGGGGACGGGGAAGGGTCCTTACCCCAGATGTGATGACAGACTGGAAACGCTCAAATACGGGTTTGATGGCCAGCGAGGCGTCCATGCAGCTGGAGAGAGATGAGGGCAGTGAGGGCCCGGGGGGCTGGGCCCCCGACCCACAGAGCATTCACACCCTCACCGGGCAGGGTCCCACCTGAAGTGCAGGATGGGGTTGGCAATGGTCGGGGTTCTGTCGTCAAAGGGCTCGATGATGATGGTGAAGCCTGCAGAGGGCAGGCAAGGAGGGGTGAGATTACCCCACTACAGCCACAGCTGCACCCACTCAGTCATTCCCTCTCCTGCTCCCTCGCTTCACCCCAATCTCCACCCCGTACTGCCTGGGAGTAAATGCGACCAAACATGACTGCTTAAGCCCCAAACCAGGCATCTGAGTCCAAAATACACCCCAACCTGTCCGCTTCGGGCCCACACCTGTGCAAACTTTCACGAAGGATCCCAAGTAGAGAGCCCACAGCCCCGCCCACTGCTCACTCTCCCAGCACCGCATGGGCTGCCCAGCACCCACGCCAAAGCCAGGAGCCAGAGCCTCAAGCTTTCTCCCATGACCTTTTCTTGTTTTTGTTTTTTGAGATGGAGCCTCGCGCTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCAGCCTCCTGGGTTCAAGTGATTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTATAGGGACACCCCCCTACAACACACCCAGCTAATTTCTACATTTTTAGTAGAGATGGGGGACCTGCAGTGGTCCACCCGCCTCAGGCTCCCAAAGTGCCAGGATTACAAGTATGAGCCACTGCACCTGGCCTCCCACGACCTTTCTACCTAAGCCATCAGCAAAGCCGGGCAGCTCTGCCTCCAAAACCTACCTGCAATTCGCCCACTGCCCCCGACCCCACGCGGGGCCAGCCACCATCACCTCCTGCCTGGACCCATCATCCCCTGCTCGCTTCACGGCAGCCAGAGGGACCCTAGGGAAACCTGAGTCCCTGAGTCCAGCCATGTCACCTCCCCGCCCCAAGAAGCCTCCCATGGCCCCCACATGCCTCCAGTGGCCTGGTGCCTGACCTTCAAAAATCAGCAGGCTCAGTCCCCCCAGGGCCTTTATACTTGCTGGTCCCATGTGGCCTGGAAAACCTCCCAAGGCTGCTCCATTTGGTCATCTGAGACTGCTCAAAAGTCAGCCCCTCCGAGAGGCCCTCCCCAGCCACCTTTTCTACGCAGACATATTCCAACACAACAATGTATTTTTTTTCATGATAACTGTCACTTTCTGGAATTATTTCCTTGTTTATTTGGCTGCATCTTTGCTACTGGTTTTCCCATCTGGAATATAAGTTCTGGGGGGTTAGGGATGAGATCTTTTTTGGTTCCTGCTGCTTCCACAGTGCTGAGCCTGGCCTGTTTGTTGAAGAAATAAATGAATGAATGAATTTACATATTCGGTTTCACACAGTGAAAAAAAATCAAGTCCTCTGTGCTGGGGACACAGTGGTGACCAAGCCAGCCTTGCCCCTGCTCGCATGGGTTCGCAGTCCAGTAGGAGACAGACTTGTCCTCAGATAGTGATGACTGAGAGTGGGCAGTGCTGGGACAGAGGTGCCCAGAGGAGGGGCCTGACTCAGCCTGGGGGTCAGGGAGGGCTTCCTGGAGGACAAGACATCTCTACTAAGCTGAGAACCTAAGGATGAGGGGGAGGTGGTTGGGGGATGAGGAAGATGAGGAAGGATGATCCAGGTGAAAGACCATGAGGTGTTGGCAGATGGGAAATAGTGGGTAGAGAATGACAAAGGTAGGGATGGAAGATGGGGCAGGACAGAGAGACAGAGGCAGAAGCAGCAGCCAGCCGGCCTCGCTACCCAGCCCCAGGGCAAGGGCCCAGATCTCCATCCTCCTGTCAGGCCCTGCCGCAGGACATGAGGCCCGATCTGGTTTCCTGGGTACAGGAGAAACCCCCAGGAGGCAGACTGAGCCCCTGGTCAGCTTCACGCTGAGGATGGGGAGGGAACACCGGCCCNNN
|
pathogenic
| 306,339 |
Does the variant on chromosome 19 at location 45357643 affecting gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2']
|
GACTCAGCCCACCTGACTGATACACCTCCCCTCTTGGAACCCACAGAAACCAGCCCCACTGGCAGCATACCAATATCCTCCCGGGTCTCAAATTTGGAGCTGATGGCCACCTGGTCATTGCCACGGCCGATGATCTGGAGAGCAACAGAGGTCACGATAAGCGAGGCAGCAGCAACTGCTCCAGCGTGAGTGCTGACCACCTGCTGGTGCTGTTCTAAGCTTTTTTTTTTTTTTTTTTTAAAGAGAGACAGGGTGTCACCATGTTGCCCAGGCTGATCTTGAACACCTGGCCTCAAGTGACCATCCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAAGCATGAGCCACCACACCCAGTCTGCTCTAAACTTTTTATAAACACAGTGTCATTGAATGAACCCTCAGCAACCCTGTTATCTGCATTGCACAAATGACCTGGGCTCAGAGAAGGTGAGTTGCCTGCCCAAGGTCACACAGCAAACAGGTGGCAAAGATGGAACCGGACCCGAGTCTGTCCACACTCTCCAACAGCAGCTACACTCTAGCCAGCCCCAGGCCCTGGGCCAGCCGGATCCCGAAGAACACCCCTCGCCATGCCGGCGGGCATCCCACCAGCCGGCAACCTCACACAACCACCATGCAGTGGGGGTCATTACCGGTCCACAACCTCTGACAGGCAACTCCAAAAGCCAAAAGCTCTGAACACATTTCTTTTTCAAGTTTGGCACAAACTCATGAAGCAGCAAAACCTGCCCTGCCCCGAGTCTCTCCAGAGGCCTGACTTACTCCTTAGTGTGATGCTTCCCAATCTTTTACTGCCGAAATGGGAGTTTGACTCGGGGGAGCTGCCCAGACCCCACTGTGGGCATCACACACCACACAGCATAGGCCTTGTCTCTAAAGGCTGGAAAATTCTGAATTCCAAAACAAATGGCTGCGCGCAGTGGCTTACACCTGTAATCCCAGCACTTCGGGAGGACCAGGCGGGCGGATCACTTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAATTACAAAAATTAGCTGGGCATCGTGGCACATGCCTGTACCAGCTACTCAGGAGGCTGAAGCATCAGAATCACCTGAATCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCGCACAACAAAAACAAAAAACCACATCCAGCCTGGGGACTTCAGATAAGGGACTGAGGGCTCATGTTGACATGCACGTGTTACAGAGACGGAGACGGAGAGGAAGGCTCACTTACCTGGGTCACAGCCAGACCACGTACTCGGCAAGATGCTAAGATGCTGACTAAGCGCCTACCTGTGCCAGGCCCTGGGCGACCTAAGTGGTTTACCCCAGTTCTCTCTCTCAATCCTCTCAACCACCCTGGGAGATCAGGGAGGATACATTCCCATTTCACAGATGAGAAAACTGAGGCTTGAGAGTCGAGCCCACAGAGAAGCAGAATCAAGCCTAAGTCTGTCTGAATCCCGAACCCAGCCTCTTCGCTGTAAAGCTCTCCTGCCTGAGCAGTGGGGGAAGCCAAGGAAGGAGGGCGGCCCCTTGCCCCCATCTCCCCTCCCGGCCCCAGCCCTAGCCTCTCCCACTCACCATAGGGCAGAGGCAGACCCGTGCCAGCGTCATGGTGAAGGTTGCCATGGTGACGGGGTGGAAGTCCAGGATCTTGGGGTAGATGTCCAGCGGGGACAGTGTCTGTGGCGGGACAGTGGGAGGGATCTCAGCAGGACTGGGCAGGGACCAGGAGGCCCATGGAGGGAGGTCAGGGACTAGGAGGGGACGGGGAAGGGTCCTTACCCCAGATGTGATGATGACAGACTGGAAACGCTCAAATACGGGTTTGATGGCCAGCGAGGCGTCCATGCAGCTGGAGAGAGATGAGGGCAGTGAGGGCCCGGGGGGCTGGGCCCCCGACCCACAGAGCATTCACACCCTCACCGGGCAGGGTCCCACCTGAAGTGCAGGATGGGGTTGGCAATGGTCGGGGTTCTGTCGTCAAAGGGCTCGATGATGATGGTGAAGCCTGCAGAGGGCAGGCAAGGAGGGGTGAGATTACCCCACTACAGCCACAGCTGCACCCACTCAGTCATTCCCTCTCCTGCTCCCTCGCTTCACCCCAATCTCCACCCCGTACTGCCTGGGAGTAAATGCGACCAAACATGACTGCTTAAGCCCCAAACCAGGCATCTGAGTCCAAAATACACCCCAACCTGTCCGCTTCGGGCCCACACCTGTGCAAACTTTCACGAAGGATCCCAAGTAGAGAGCCCACAGCCCCGCCCACTGCTCACTCTCCCAGCACCGCATGGGCTGCCCAGCACCCACGCCAAAGCCAGGAGCCAGAGCCTCAAGCTTTCTCCCATGACCTTTTCTTGTTTTTGTTTTTTGAGATGGAGCCTCGCGCTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCAGCCTCCTGGGTTCAAGTGATTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTATAGGGACACCCCCCTACAACACACCCAGCTAATTTCTACATTTTTAGTAGAGATGGGGGACCTGCAGTGGTCCACCCGCCTCAGGCTCCCAAAGTGCCAGGATTACAAGTATGAGCCACTGCACCTGGCCTCCCACGACCTTTCTACCTAAGCCATCAGCAAAGCCGGGCAGCTCTGCCTCCAAAACCTACCTGCAATTCGCCCACTGCCCCCGACCCCACGCGGGGCCAGCCACCATCACCTCCTGCCTGGACCCATCATCCCCTGCTCGCTTCACGGCAGCCAGAGGGACCCTAGGGAAACCTGAGTCCCTGAGTCCAGCCATGTCACCTCCCCGCCCCAAGAAGCCTCCCATGGCCCCCACATGCCTCCAGTGGCCTGGTGCCTGACCTTCAAAAATCAGCAGGCTCAGTCCCCCCAGGGCCTTTATACTTGCTGGTCCCATGTGGCCTGGAAAACCTCCCAAGGCTGCTCCATTTGGTCATCTGAGACTGCTCAAAAGTCAGCCCCTCCGAGAGGCCCTCCCCAGCCACCTTTTCTACGCAGACATATTCCAACACAACAATGTATTTTTTTTCATGATAACTGTCACTTTCTGGAATTATTTCCTTGTTTATTTGGCTGCATCTTTGCTACTGGTTTTCCCATCTGGAATATAAGTTCTGGGGGGTTAGGGATGAGATCTTTTTTGGTTCCTGCTGCTTCCACAGTGCTGAGCCTGGCCTGTTTGTTGAAGAAATAAATGAATGAATGAATTTACATATTCGGTTTCACACAGTGAAAAAAAATCAAGTCCTCTGTGCTGGGGACACAGTGGTGACCAAGCCAGCCTTGCCCCTGCTCGCATGGGTTCGCAGTCCAGTAGGAGACAGACTTGTCCTCAGATAGTGATGACTGAGAGTGGGCAGTGCTGGGACAGAGGTGCCCAGAGGAGGGGCCTGACTCAGCCTGGGGGTCAGGGAGGGCTTCCTGGAGGACAAGACATCTCTACTAAGCTGAGAACCTAAGGATGAGGGGGAGGTGGTTGGGGGATGAGGAAGATGAGGAAGGATGATCCAGGTGAAAGACCATGAGGTGTTGGCAGATGGGAAATAGTGGGTAGAGAATGACAAAGGTAGGGATGGAAGATGGGGCAGGACAGAGAGACAGAGGCAGAAGCAGCAGCCAGCCGGCCTCGCTACCCAGCCCCAGGGCAAGGGCCCAGATCTCCATCCTCCTGTCAGGCCCTGCCGCAGGACATGAGGCCCGATCTGGTTTCCTGGGTACAGGAGAAACCCCCAGGAGGCAGACTGAGCCCCTGGTCAGCTTCACGCTGAGGATGGGGAGGGAACACCGGCCCATAAAGCCTCCAGAATGATGTCCCTCTCTCGTAACCTGAAAATCTGAACATCAGCCTCTACTCCTCTTGTCCCTGGTCCCAAAACCCAGGCACCACGCTCCCCATATCCCAGCCTCTCTACCTCCCACATCTCTCTCCAAACCATACCTTTCTCTCTCCCCA
|
GACTCAGCCCACCTGACTGATACACCTCCCCTCTTGGAACCCACAGAAACCAGCCCCACTGGCAGCATACCAATATCCTCCCGGGTCTCAAATTTGGAGCTGATGGCCACCTGGTCATTGCCACGGCCGATGATCTGGAGAGCAACAGAGGTCACGATAAGCGAGGCAGCAGCAACTGCTCCAGCGTGAGTGCTGACCACCTGCTGGTGCTGTTCTAAGCTTTTTTTTTTTTTTTTTTTAAAGAGAGACAGGGTGTCACCATGTTGCCCAGGCTGATCTTGAACACCTGGCCTCAAGTGACCATCCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAAGCATGAGCCACCACACCCAGTCTGCTCTAAACTTTTTATAAACACAGTGTCATTGAATGAACCCTCAGCAACCCTGTTATCTGCATTGCACAAATGACCTGGGCTCAGAGAAGGTGAGTTGCCTGCCCAAGGTCACACAGCAAACAGGTGGCAAAGATGGAACCGGACCCGAGTCTGTCCACACTCTCCAACAGCAGCTACACTCTAGCCAGCCCCAGGCCCTGGGCCAGCCGGATCCCGAAGAACACCCCTCGCCATGCCGGCGGGCATCCCACCAGCCGGCAACCTCACACAACCACCATGCAGTGGGGGTCATTACCGGTCCACAACCTCTGACAGGCAACTCCAAAAGCCAAAAGCTCTGAACACATTTCTTTTTCAAGTTTGGCACAAACTCATGAAGCAGCAAAACCTGCCCTGCCCCGAGTCTCTCCAGAGGCCTGACTTACTCCTTAGTGTGATGCTTCCCAATCTTTTACTGCCGAAATGGGAGTTTGACTCGGGGGAGCTGCCCAGACCCCACTGTGGGCATCACACACCACACAGCATAGGCCTTGTCTCTAAAGGCTGGAAAATTCTGAATTCCAAAACAAATGGCTGCGCGCAGTGGCTTACACCTGTAATCCCAGCACTTCGGGAGGACCAGGCGGGCGGATCACTTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAATTACAAAAATTAGCTGGGCATCGTGGCACATGCCTGTACCAGCTACTCAGGAGGCTGAAGCATCAGAATCACCTGAATCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCGCACAACAAAAACAAAAAACCACATCCAGCCTGGGGACTTCAGATAAGGGACTGAGGGCTCATGTTGACATGCACGTGTTACAGAGACGGAGACGGAGAGGAAGGCTCACTTACCTGGGTCACAGCCAGACCACGTACTCGGCAAGATGCTAAGATGCTGACTAAGCGCCTACCTGTGCCAGGCCCTGGGCGACCTAAGTGGTTTACCCCAGTTCTCTCTCTCAATCCTCTCAACCACCCTGGGAGATCAGGGAGGATACATTCCCATTTCACAGATGAGAAAACTGAGGCTTGAGAGTCGAGCCCACAGAGAAGCAGAATCAAGCCTAAGTCTGTCTGAATCCCGAACCCAGCCTCTTCGCTGTAAAGCTCTCCTGCCTGAGCAGTGGGGGAAGCCAAGGAAGGAGGGCGGCCCCTTGCCCCCATCTCCCCTCCCGGCCCCAGCCCTAGCCTCTCCCACTCACCATAGGGCAGAGGCAGACCCGTGCCAGCGTCATGGTGAAGGTTGCCATGGTGACGGGGTGGAAGTCCAGGATCTTGGGGTAGATGTCCAGCGGGGACAGTGTCTGTGGCGGGACAGTGGGAGGGATCTCAGCAGGACTGGGCAGGGACCAGGAGGCCCATGGAGGGAGGTCAGGGACTAGGAGGGGACGGGGAAGGGTCCTTACCCCAGATGTGATGATGACAGACTGGAAACGCTCAAATACGGGTTTGATGGCCAGCGAGGCGTCCATGCAGCTGGAGAGAGATGAGGGCAGTGAGGGCCCGGGGGGCTGGGCCCCCGACCCACAGAGCATTCACACCCTCACCGGGCAGGGTCCCACCTGAAGTGCAGGATGGGGGTTGGCAATGGTCGGGGTTCTGTCGTCAAAGGGCTCGATGATGATGGTGAAGCCTGCAGAGGGCAGGCAAGGAGGGGTGAGATTACCCCACTACAGCCACAGCTGCACCCACTCAGTCATTCCCTCTCCTGCTCCCTCGCTTCACCCCAATCTCCACCCCGTACTGCCTGGGAGTAAATGCGACCAAACATGACTGCTTAAGCCCCAAACCAGGCATCTGAGTCCAAAATACACCCCAACCTGTCCGCTTCGGGCCCACACCTGTGCAAACTTTCACGAAGGATCCCAAGTAGAGAGCCCACAGCCCCGCCCACTGCTCACTCTCCCAGCACCGCATGGGCTGCCCAGCACCCACGCCAAAGCCAGGAGCCAGAGCCTCAAGCTTTCTCCCATGACCTTTTCTTGTTTTTGTTTTTTGAGATGGAGCCTCGCGCTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCAGCCTCCTGGGTTCAAGTGATTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTATAGGGACACCCCCCTACAACACACCCAGCTAATTTCTACATTTTTAGTAGAGATGGGGGACCTGCAGTGGTCCACCCGCCTCAGGCTCCCAAAGTGCCAGGATTACAAGTATGAGCCACTGCACCTGGCCTCCCACGACCTTTCTACCTAAGCCATCAGCAAAGCCGGGCAGCTCTGCCTCCAAAACCTACCTGCAATTCGCCCACTGCCCCCGACCCCACGCGGGGCCAGCCACCATCACCTCCTGCCTGGACCCATCATCCCCTGCTCGCTTCACGGCAGCCAGAGGGACCCTAGGGAAACCTGAGTCCCTGAGTCCAGCCATGTCACCTCCCCGCCCCAAGAAGCCTCCCATGGCCCCCACATGCCTCCAGTGGCCTGGTGCCTGACCTTCAAAAATCAGCAGGCTCAGTCCCCCCAGGGCCTTTATACTTGCTGGTCCCATGTGGCCTGGAAAACCTCCCAAGGCTGCTCCATTTGGTCATCTGAGACTGCTCAAAAGTCAGCCCCTCCGAGAGGCCCTCCCCAGCCACCTTTTCTACGCAGACATATTCCAACACAACAATGTATTTTTTTTCATGATAACTGTCACTTTCTGGAATTATTTCCTTGTTTATTTGGCTGCATCTTTGCTACTGGTTTTCCCATCTGGAATATAAGTTCTGGGGGGTTAGGGATGAGATCTTTTTTGGTTCCTGCTGCTTCCACAGTGCTGAGCCTGGCCTGTTTGTTGAAGAAATAAATGAATGAATGAATTTACATATTCGGTTTCACACAGTGAAAAAAAATCAAGTCCTCTGTGCTGGGGACACAGTGGTGACCAAGCCAGCCTTGCCCCTGCTCGCATGGGTTCGCAGTCCAGTAGGAGACAGACTTGTCCTCAGATAGTGATGACTGAGAGTGGGCAGTGCTGGGACAGAGGTGCCCAGAGGAGGGGCCTGACTCAGCCTGGGGGTCAGGGAGGGCTTCCTGGAGGACAAGACATCTCTACTAAGCTGAGAACCTAAGGATGAGGGGGAGGTGGTTGGGGGATGAGGAAGATGAGGAAGGATGATCCAGGTGAAAGACCATGAGGTGTTGGCAGATGGGAAATAGTGGGTAGAGAATGACAAAGGTAGGGATGGAAGATGGGGCAGGACAGAGAGACAGAGGCAGAAGCAGCAGCCAGCCGGCCTCGCTACCCAGCCCCAGGGCAAGGGCCCAGATCTCCATCCTCCTGTCAGGCCCTGCCGCAGGACATGAGGCCCGATCTGGTTTCCTGGGTACAGGAGAAACCCCCAGGAGGCAGACTGAGCCCCTGGTCAGCTTCACGCTGAGGATGGGGAGGGAACACCGGCCCATAAAGCCTCCAGAATGATGTCCCTCTCTCGTAACCTGAAAATCTGAACATCAGCCTCTACTCCTCTTGTCCCTGGTCCCAAAACCCAGGCACCACGCTCCCCATATCCCAGCCTCTCTACCTCCCACATCTCTCTCCAAACCATACCTTTCTCTCTCCCC
|
pathogenic
| 306,351 |
Gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) variant at chromosome 19, position 45361573—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2']
|
GCCCATAAAGCCTCCAGAATGATGTCCCTCTCTCGTAACCTGAAAATCTGAACATCAGCCTCTACTCCTCTTGTCCCTGGTCCCAAAACCCAGGCACCACGCTCCCCATATCCCAGCCTCTCTACCTCCCACATCTCTCTCCAAACCATACCTTTCTCTCTCCCCATGGCCACATCCTGGCCAAGGCCCCTCCCCTCCTGCTCAGGTCCCTGCCTGCCACCCAGTCTCCTGCCTCTAGTCCCTGCCAGAAGAACTCTTTTTTTTTTTTTGAGACAGACTCTCATTTTCACCCAGGCTGGAGTGCAGCTGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGGCTCCTGAGTAGTTGGAACTATAGGTGCGTGCCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACTATGCCAGGCCTATTTTTTTTCTTTTTTTTTTTTGAGACGGAGTCTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAACTTTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGAGATCCGCCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTAAACCACCACGCCCGGCCTTTTTTTTTTTTTTGAGACGAAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGCCACAATCTTGGCTCACTGTAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGAGCCCACCATCACACCTGGCAAATTGTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCACCTCGGCCCCCCAAACTGCTGGGATTATGGGCGTGAGCCACCATGTCTGGCCCCAGCTAATTTTTGTATTTTTAGTAAAGATGGGGTTTCGCCATGTTCACCAGGCCAGTCTCGAACTCCTGACCTCAGGTCATCTGCCTGCCTAACCATTCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGTTCAGCACCCAGAAGAAATCTTTCCAAAGCACAACTCTGGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGGTGGATCATGAGGTCAGGAGATCGAGACCGTCCTGGCCAACATGGTGAAACCCCACCTCTACTAAAAATACAAAAATTAGCTGGGTATAGTGGCATGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAGCACAAATCTGACCTGGCACCTTGCTTGCTAGAATCTGCCATGGCTCCCCAGTGCCCTCAGGAGCACAAAGATCAACTCATTACCGTGCCCTCTAGTGTGAGCTGACCCCATAGAATTTCTCTGGCCTCCTCCCTTACCACTGCCCATGCCATCCTTCTCCACTCTGCAGCCCGAGGAAGTCTGTGAAAATGTAAATCTGAGCACAAGGCTTACTCAAGAACTATGTATGGCTCCCCACTGCCTTCAAAATAGGGCCCACACTTCCAAGCCAAACCCCACAAAGCCCTGTGTGTCCTGCCAACAACCCTCTAGACCCTGCTGGGACCCTGATTCCAGCTGCTAGGAGGCCCAGCAGGGACAGAAAAAGGTGAGCTTACCTTTGGCGTAGGTGCTGACAAGGGTGGCAAAGTTAGCAAGGAGGGTGAGCGGGGAGAAGTCAGCAAGGTCGGTGATCTCCAGAGTATGCAGCAGGGACCGGAGGCGTTCAGCACAGAATCTGGCGGGGAGGAGAGACGGGGTCGGGGGGCAGACGGAAGCATGAGCAGGACCAGCAGCCCTGCCTCCGCCATCACGACGGTCACGTGCCTGTCTCCCCAGCCAATGAGCACTCAGTGAGGGTGGGCACTGGGCCTGTTTTGGAAACTTGCACCCCCACGCTGTACACCTGCATGTCACAAATAGCCATTGCCGCATAATGGCACAGACAGAGCAATAATCAGACACTCCAGAGTCATGTGGTCACTTGTCACACCTGCTAGCACGACCTCCTAAGTGGGTTCTTTTTTTCTTTTTCTTTTTTTTCTTTGTTCAGATGGAGTCTTGCCCTGTCATCCAGGCTGGAGAGCACTGGTACCATCTCGACTCCGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACTCAGCTAATTTTTGTACTTTTAGTAGAGACGGACTTTCACTATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGTGTGAGCCACTGCACCTGGCCCTAAGTGGGTTCTGATCAAAACAAGAGACGCACAATCACACCCAGAACCCCCCAGTCATGGCATTAATCCCGCATGGCCACATGGTCACGCATTCACACCCAGAGCCTCTCCCACTGCCTCTCACGCACCTATGGGGACACACACGGTGTCGGAACCCCATGGGCTCACAGAGGAATGCAGTCAACACCCACATCCCACAGAGTCCCACGGATACCACGTCCACACACTCACGCATGTGCAGGGCCACTCGGCCACAACCACACACAGGCAGGGCCGAGGCAGGGTCATAGAGCAGCTGGCTTTGAAGCCAGGTGGGCAGTCACACTTGCAAACCTGCCTCCCGCACGTCAGCCCTCCCAGCCTGGCTCCTCTAACCCCAGGCGCCTACCCCGGCTGGTCGCTAGCTGAGGATGAGTCTGTCCCCTCCACTGGGCCATGGAGCCTCTACGGCTGTGTCCCCAGCATGAAGCAGGCACTTGGGGAATGTGTGTTGAGTGACTGAGATCCCCTCTTTGCCCTCACAAGTCTCCAATCCTGGGGAAGATGGGCAAACCCACATGGAAGGTGGCCTCACCCACAGAGGCAGGGCAGCCAGGGCCTTTGGAGCCCACAGGCATGGCTTCAAGCCCCAACTACCGGGCACAGTGCTGTGTGGCTCTGGGCAAAGGCTTCCCCTCTGGGAGTCCCAGTGTCCTCATTTGCAGGGTGGGGATGCTGTACTGGGGGTGCAACTGAGGTAAGGAACATAAAGGGCTTAGCTCCTCCTTAGTGCTCAGGGCAGGGTAGGTGATTGGCTTCGCTGCTCTCTCATTAACCCACCAAAGAACCCTGTGAAGTAAAGACCCGACTCCTTGGCCATTTTACAAAGGAGGAAACTGCAGTTCAAAGAAGACCCATGACTTACCCAAAGGAAAAGCCCCCTCGTATCCCTTGGTCATTCTCTGCCTGCCCTGTGCCTCAAGAGACTGACTCCCCCAAAATGCGCCCAGACTACTCCATGGGGACGCCCCTGCCCTCAGGTTTGGAAGATTAGAGGCATCGGTGGGAAGATACATGGGCCGGGGACACCTCCTCCAGCTCCCAGCCTGCGAGGCCCTGGTACTGGTTTCTGCTCCCAGCAGAAGCCCCTGTCCAGGCCCCCACCAGTTGGTTCTCAACACACTCCCTCCCTGCCGCTGTGGCCTGGCTTAGCTCCCAGCTCTCACCTCCCACCCTCCTTGGCTCCTCCCCCAGCCCGCCCCTCTGTAAATGGTGCTCCCACTCTCTCTTGGGTGGGGGAGATTCTCCAATCCAGCCAGGTGTTGCCTGCCAGGCCCCTGCCCGACGCACGGACCCAGGATCAGCTCCAACCTTGCTCCCGGACCTCCCAGGTCAGACCAGACAAGGTCCCACGTGC
|
GCCCATAAAGCCTCCAGAATGATGTCCCTCTCTCGTAACCTGAAAATCTGAACATCAGCCTCTACTCCTCTTGTCCCTGGTCCCAAAACCCAGGCACCACGCTCCCCATATCCCAGCCTCTCTACCTCCCACATCTCTCTCCAAACCATACCTTTCTCTCTCCCCATGGCCACATCCTGGCCAAGGCCCCTCCCCTCCTGCTCAGGTCCCTGCCTGCCACCCAGTCTCCTGCCTCTAGTCCCTGCCAGAAGAACTCTTTTTTTTTTTTTGAGACAGACTCTCATTTTCACCCAGGCTGGAGTGCAGCTGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGGCTCCTGAGTAGTTGGAACTATAGGTGCGTGCCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACTATGCCAGGCCTATTTTTTTTCTTTTTTTTTTTTGAGACGGAGTCTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAACTTTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGAGATCCGCCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTAAACCACCACGCCCGGCCTTTTTTTTTTTTTTGAGACGAAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGCCACAATCTTGGCTCACTGTAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGAGCCCACCATCACACCTGGCAAATTGTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCACCTCGGCCCCCCAAACTGCTGGGATTATGGGCGTGAGCCACCATGTCTGGCCCCAGCTAATTTTTGTATTTTTAGTAAAGATGGGGTTTCGCCATGTTCACCAGGCCAGTCTCGAACTCCTGACCTCAGGTCATCTGCCTGCCTAACCATTCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGTTCAGCACCCAGAAGAAATCTTTCCAAAGCACAACTCTGGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGGTGGATCATGAGGTCAGGAGATCGAGACCGTCCTGGCCAACATGGTGAAACCCCACCTCTACTAAAAATACAAAAATTAGCTGGGTATAGTGGCATGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAGCACAAATCTGACCTGGCACCTTGCTTGCTAGAATCTGCCATGGCTCCCCAGTGCCCTCAGGAGCACAAAGATCAACTCATTACCGTGCCCTCTAGTGTGAGCTGACCCCATAGAATTTCTCTGGCCTCCTCCCTTACCACTGCCCATGCCATCCTTCTCCACTCTGCAGCCCGAGGAAGTCTGTGAAAATGTAAATCTGAGCACAAGGCTTACTCAAGAACTATGTATGGCTCCCCACTGCCTTCAAAATAGGGCCCACACTTCCAAGCCAAACCCCACAAAGCCCTGTGTGTCCTGCCAACAACCCTCTAGACCCTGCTGGGACCCTGATTCCAGCTGCTAGGAGGCCCAGCAGGGACAGAAAAAGGTGAGCTTACCTTTGGCGTAGGTGCTGACAAGGGTGGCAAAGTTAGCAAGGAGGGTGAGCGGGGGAGAAGTCAGCAAGGTCGGTGATCTCCAGAGTATGCAGCAGGGACCGGAGGCGTTCAGCACAGAATCTGGCGGGGAGGAGAGACGGGGTCGGGGGGCAGACGGAAGCATGAGCAGGACCAGCAGCCCTGCCTCCGCCATCACGACGGTCACGTGCCTGTCTCCCCAGCCAATGAGCACTCAGTGAGGGTGGGCACTGGGCCTGTTTTGGAAACTTGCACCCCCACGCTGTACACCTGCATGTCACAAATAGCCATTGCCGCATAATGGCACAGACAGAGCAATAATCAGACACTCCAGAGTCATGTGGTCACTTGTCACACCTGCTAGCACGACCTCCTAAGTGGGTTCTTTTTTTCTTTTTCTTTTTTTTCTTTGTTCAGATGGAGTCTTGCCCTGTCATCCAGGCTGGAGAGCACTGGTACCATCTCGACTCCGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACTCAGCTAATTTTTGTACTTTTAGTAGAGACGGACTTTCACTATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGTGTGAGCCACTGCACCTGGCCCTAAGTGGGTTCTGATCAAAACAAGAGACGCACAATCACACCCAGAACCCCCCAGTCATGGCATTAATCCCGCATGGCCACATGGTCACGCATTCACACCCAGAGCCTCTCCCACTGCCTCTCACGCACCTATGGGGACACACACGGTGTCGGAACCCCATGGGCTCACAGAGGAATGCAGTCAACACCCACATCCCACAGAGTCCCACGGATACCACGTCCACACACTCACGCATGTGCAGGGCCACTCGGCCACAACCACACACAGGCAGGGCCGAGGCAGGGTCATAGAGCAGCTGGCTTTGAAGCCAGGTGGGCAGTCACACTTGCAAACCTGCCTCCCGCACGTCAGCCCTCCCAGCCTGGCTCCTCTAACCCCAGGCGCCTACCCCGGCTGGTCGCTAGCTGAGGATGAGTCTGTCCCCTCCACTGGGCCATGGAGCCTCTACGGCTGTGTCCCCAGCATGAAGCAGGCACTTGGGGAATGTGTGTTGAGTGACTGAGATCCCCTCTTTGCCCTCACAAGTCTCCAATCCTGGGGAAGATGGGCAAACCCACATGGAAGGTGGCCTCACCCACAGAGGCAGGGCAGCCAGGGCCTTTGGAGCCCACAGGCATGGCTTCAAGCCCCAACTACCGGGCACAGTGCTGTGTGGCTCTGGGCAAAGGCTTCCCCTCTGGGAGTCCCAGTGTCCTCATTTGCAGGGTGGGGATGCTGTACTGGGGGTGCAACTGAGGTAAGGAACATAAAGGGCTTAGCTCCTCCTTAGTGCTCAGGGCAGGGTAGGTGATTGGCTTCGCTGCTCTCTCATTAACCCACCAAAGAACCCTGTGAAGTAAAGACCCGACTCCTTGGCCATTTTACAAAGGAGGAAACTGCAGTTCAAAGAAGACCCATGACTTACCCAAAGGAAAAGCCCCCTCGTATCCCTTGGTCATTCTCTGCCTGCCCTGTGCCTCAAGAGACTGACTCCCCCAAAATGCGCCCAGACTACTCCATGGGGACGCCCCTGCCCTCAGGTTTGGAAGATTAGAGGCATCGGTGGGAAGATACATGGGCCGGGGACACCTCCTCCAGCTCCCAGCCTGCGAGGCCCTGGTACTGGTTTCTGCTCCCAGCAGAAGCCCCTGTCCAGGCCCCCACCAGTTGGTTCTCAACACACTCCCTCCCTGCCGCTGTGGCCTGGCTTAGCTCCCAGCTCTCACCTCCCACCCTCCTTGGCTCCTCCCCCAGCCCGCCCCTCTGTAAATGGTGCTCCCACTCTCTCTTGGGTGGGGGAGATTCTCCAATCCAGCCAGGTGTTGCCTGCCAGGCCCCTGCCCGACGCACGGACCCAGGATCAGCTCCAACCTTGCTCCCGGACCTCCCAGGTCAGACCAGACAAGGTCCCACGTG
|
pathogenic
| 306,370 |
A genetic alteration at chromosome 19, position 45363853, in gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum,_group_D']
|
GTACACCTGCATGTCACAAATAGCCATTGCCGCATAATGGCACAGACAGAGCAATAATCAGACACTCCAGAGTCATGTGGTCACTTGTCACACCTGCTAGCACGACCTCCTAAGTGGGTTCTTTTTTTCTTTTTCTTTTTTTTCTTTGTTCAGATGGAGTCTTGCCCTGTCATCCAGGCTGGAGAGCACTGGTACCATCTCGACTCCGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACTCAGCTAATTTTTGTACTTTTAGTAGAGACGGACTTTCACTATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGTGTGAGCCACTGCACCTGGCCCTAAGTGGGTTCTGATCAAAACAAGAGACGCACAATCACACCCAGAACCCCCCAGTCATGGCATTAATCCCGCATGGCCACATGGTCACGCATTCACACCCAGAGCCTCTCCCACTGCCTCTCACGCACCTATGGGGACACACACGGTGTCGGAACCCCATGGGCTCACAGAGGAATGCAGTCAACACCCACATCCCACAGAGTCCCACGGATACCACGTCCACACACTCACGCATGTGCAGGGCCACTCGGCCACAACCACACACAGGCAGGGCCGAGGCAGGGTCATAGAGCAGCTGGCTTTGAAGCCAGGTGGGCAGTCACACTTGCAAACCTGCCTCCCGCACGTCAGCCCTCCCAGCCTGGCTCCTCTAACCCCAGGCGCCTACCCCGGCTGGTCGCTAGCTGAGGATGAGTCTGTCCCCTCCACTGGGCCATGGAGCCTCTACGGCTGTGTCCCCAGCATGAAGCAGGCACTTGGGGAATGTGTGTTGAGTGACTGAGATCCCCTCTTTGCCCTCACAAGTCTCCAATCCTGGGGAAGATGGGCAAACCCACATGGAAGGTGGCCTCACCCACAGAGGCAGGGCAGCCAGGGCCTTTGGAGCCCACAGGCATGGCTTCAAGCCCCAACTACCGGGCACAGTGCTGTGTGGCTCTGGGCAAAGGCTTCCCCTCTGGGAGTCCCAGTGTCCTCATTTGCAGGGTGGGGATGCTGTACTGGGGGTGCAACTGAGGTAAGGAACATAAAGGGCTTAGCTCCTCCTTAGTGCTCAGGGCAGGGTAGGTGATTGGCTTCGCTGCTCTCTCATTAACCCACCAAAGAACCCTGTGAAGTAAAGACCCGACTCCTTGGCCATTTTACAAAGGAGGAAACTGCAGTTCAAAGAAGACCCATGACTTACCCAAAGGAAAAGCCCCCTCGTATCCCTTGGTCATTCTCTGCCTGCCCTGTGCCTCAAGAGACTGACTCCCCCAAAATGCGCCCAGACTACTCCATGGGGACGCCCCTGCCCTCAGGTTTGGAAGATTAGAGGCATCGGTGGGAAGATACATGGGCCGGGGACACCTCCTCCAGCTCCCAGCCTGCGAGGCCCTGGTACTGGTTTCTGCTCCCAGCAGAAGCCCCTGTCCAGGCCCCCACCAGTTGGTTCTCAACACACTCCCTCCCTGCCGCTGTGGCCTGGCTTAGCTCCCAGCTCTCACCTCCCACCCTCCTTGGCTCCTCCCCCAGCCCGCCCCTCTGTAAATGGTGCTCCCACTCTCTCTTGGGTGGGGGAGATTCTCCAATCCAGCCAGGTGTTGCCTGCCAGGCCCCTGCCCGACGCACGGACCCAGGATCAGCTCCAACCTTGCTCCCGGACCTCCCAGGTCAGACCAGACAAGGTCCCACGTGCCTCGCCCAGCTCACTCACTCCTGATGCTGCAGTGGTGACCTGGGGCTACAGGCGTGGAGGACACGGCTCTGCATAACCGGGACCTGCCGGGCCCCCACCCCGCGCGCTGTCTGGGGCCGCACCTGAGGGGCTTGCGCTGGATGCACACGCGCTGGGCCAGGCCGCTCAGGAAGGCGGGCGGGCTCTCCTGCACCACATGCTGCACACGCAGCCGCCACTTCACGTACTCCAGCAGCCGCCTCAGGAAGCCCAGGAAATGCTCGGCCGTGCGGATGGAGCCAGGCACTGCCTCTGCGAGGAGACGCTATCAGCGGCGACGGGGAGGCGGGAAAGGGACTGGGGGGCAGCGGGGGGTCGGGGCTCACCCTGCAGCACTTCGTCGGGCAGCACGGGGTTGGCCAGGTGGGCGTCCGTCTCCCGGGCGGCGCTGGCCTCCCGCAGCCCCTCCACCAGACGCCGGTACTCGTCCCGCAGGCGCTGCTCGTCTGTCTCTTTGATCCTGCGGAGAGATGAGCTGGGGCTGGGAGGGGGCTGGCAACCCTGGGGACAAGTCAGACAGGGGCCAGGGTCCCAGGGGCAGGGCGGGCACCACCGCCAGACGTCCCCGGCCCCACCTGAGCACCGTCTTCTGCAGGGTCTCCAGGTTGCCCTGGCACCGGTCAAGGGTCCGGCGGGTGAGGTTGACGCTCATGGAGTCGATGCAGACGTTGTCTGGAGAAGGGGGAGAGAGCCGGCTCAGGCAGGCCTGCAGGGGCCTCACTCAGAGGGGCTGGCATCCCTTTGGCCCCTGGCGCCCCCCTCACCAATGTTGTGGGCCTCGTCGAAGACCACGACGGCCTTGCGGGCCAGTTCCTTGGACACCAGGTCTGCAATCTTGGGGTCCAGGAGGTAGTGGTAGCTATAAACCACCACATTGGCATGCAGGATCTGGGGGGCCGGGGAGCAGGGTTACCAGGGCCCTGCCACCCCAACCCCTACCCCTACCCCTGGCCACACTGGCCCGTCACTCCCACACAGGCCTGCACAGGCAGACACAGGCCAGGCAGAAGTATGAGCAGATGGATAGAGACAGACCAACAGATACGGGCACCCACCAACAGGGAGATGCAGACAGGCAGACTCACAGCAAGCAACAGACAGACATGGGCAGACAGGAGACGGGCGGGCAGCCCACACCCTCACACTCGCCCCTCTGCCCATCCCACCAGCCTCCTCACTGAGTATCGAGCAAGGAAGTATGGGCACCAGCCCTGGCGCCGCCCCAGGGCCTTCAGGTCATCCAGGTTGTAGATGCCAGCGGGGAGGGGCACCTCACGCCCATGGGCATCAAATTCCTGGGACAAGAGTGCCAGGGGTCAGGGAGGCTGCCTGCCCCAGGCTACCTGTCCTGCCTCCCTCCCTCAGCCCTGCCCTCCAGTAACCTCATAGAATCGGCAGTGGGGCAGGCTGGTGTCATGCTGGTACTGCGCCCGCACATAGGAGGCTGTGAGGCTGTGGCATTTCCCATCGACGTCCTTCCCAAAGCGCAGGGGTGTCACCTGGGGGTGTGGGGCATCTTAGCACCCAGACAGGGTGGAAACCCAACCACTCTTCAAACCCTGGTCTCCACACCTCCCAGCTGGCTGGGGTTTTGGACAACTTGAACCTCAGTCTGTTGCATTATTAGTTAAGACGCGTGGGAACTTAATGCAGGGATACAAGAGTAGTAAAATTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGTGAGGCTGAGGTGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGTATCCGGGAGGTGGAGGTTGCAGTGAGCAGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGTGAGACACCATCTCAAAAAAATAAGTAAAAATAAAAATACAAAAATGAGCCAGGTGTGGTGGTGCACACCTGGAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGTACTCCACCCTGGGCCACGGAGCCAGACTCCCTCTCAAAAAAAAAAAGAGTAGCAAAATTGTTACATTCTTACAACTACAAGTTATACATACATATTTTTGGAGACAAGTCCCTCTGCTACTCAGGCTGGAATGCAGTGGCCCAAT
|
GTACACCTGCATGTCACAAATAGCCATTGCCGCATAATGGCACAGACAGAGCAATAATCAGACACTCCAGAGTCATGTGGTCACTTGTCACACCTGCTAGCACGACCTCCTAAGTGGGTTCTTTTTTTCTTTTTCTTTTTTTTCTTTGTTCAGATGGAGTCTTGCCCTGTCATCCAGGCTGGAGAGCACTGGTACCATCTCGACTCCGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACTCAGCTAATTTTTGTACTTTTAGTAGAGACGGACTTTCACTATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGTGTGAGCCACTGCACCTGGCCCTAAGTGGGTTCTGATCAAAACAAGAGACGCACAATCACACCCAGAACCCCCCAGTCATGGCATTAATCCCGCATGGCCACATGGTCACGCATTCACACCCAGAGCCTCTCCCACTGCCTCTCACGCACCTATGGGGACACACACGGTGTCGGAACCCCATGGGCTCACAGAGGAATGCAGTCAACACCCACATCCCACAGAGTCCCACGGATACCACGTCCACACACTCACGCATGTGCAGGGCCACTCGGCCACAACCACACACAGGCAGGGCCGAGGCAGGGTCATAGAGCAGCTGGCTTTGAAGCCAGGTGGGCAGTCACACTTGCAAACCTGCCTCCCGCACGTCAGCCCTCCCAGCCTGGCTCCTCTAACCCCAGGCGCCTACCCCGGCTGGTCGCTAGCTGAGGATGAGTCTGTCCCCTCCACTGGGCCATGGAGCCTCTACGGCTGTGTCCCCAGCATGAAGCAGGCACTTGGGGAATGTGTGTTGAGTGACTGAGATCCCCTCTTTGCCCTCACAAGTCTCCAATCCTGGGGAAGATGGGCAAACCCACATGGAAGGTGGCCTCACCCACAGAGGCAGGGCAGCCAGGGCCTTTGGAGCCCACAGGCATGGCTTCAAGCCCCAACTACCGGGCACAGTGCTGTGTGGCTCTGGGCAAAGGCTTCCCCTCTGGGAGTCCCAGTGTCCTCATTTGCAGGGTGGGGATGCTGTACTGGGGGTGCAACTGAGGTAAGGAACATAAAGGGCTTAGCTCCTCCTTAGTGCTCAGGGCAGGGTAGGTGATTGGCTTCGCTGCTCTCTCATTAACCCACCAAAGAACCCTGTGAAGTAAAGACCCGACTCCTTGGCCATTTTACAAAGGAGGAAACTGCAGTTCAAAGAAGACCCATGACTTACCCAAAGGAAAAGCCCCCTCGTATCCCTTGGTCATTCTCTGCCTGCCCTGTGCCTCAAGAGACTGACTCCCCCAAAATGCGCCCAGACTACTCCATGGGGACGCCCCTGCCCTCAGGTTTGGAAGATTAGAGGCATCGGTGGGAAGATACATGGGCCGGGGACACCTCCTCCAGCTCCCAGCCTGCGAGGCCCTGGTACTGGTTTCTGCTCCCAGCAGAAGCCCCTGTCCAGGCCCCCACCAGTTGGTTCTCAACACACTCCCTCCCTGCCGCTGTGGCCTGGCTTAGCTCCCAGCTCTCACCTCCCACCCTCCTTGGCTCCTCCCCCAGCCCGCCCCTCTGTAAATGGTGCTCCCACTCTCTCTTGGGTGGGGGAGATTCTCCAATCCAGCCAGGTGTTGCCTGCCAGGCCCCTGCCCGACGCACGGACCCAGGATCAGCTCCAACCTTGCTCCCGGACCTCCCAGGTCAGACCAGACAAGGTCCCACGTGCCTCGCCCAGCTCACTCACTCCTGATGCTGCAGTGGTGACCTGGGGCTACAGGCGTGGAGGACACGGCTCTGCATAACCGGGACCTGCCGGGCCCCCACCCCGCGCGCTGTCTGGGGCCGCACCTGAGGGGCTTGCGCTGGATGCACACGCGCTGGGCCAGGCCGCTCAGGAAGGCGGGCGGGCTCTCCTGCACCACATGCTGCACACGCAGCCGCCACTTCACGTACTCCAGCAAGCCGCCTCAGGAAGCCCAGGAAATGCTCGGCCGTGCGGATGGAGCCAGGCACTGCCTCTGCGAGGAGACGCTATCAGCGGCGACGGGGAGGCGGGAAAGGGACTGGGGGGCAGCGGGGGGTCGGGGCTCACCCTGCAGCACTTCGTCGGGCAGCACGGGGTTGGCCAGGTGGGCGTCCGTCTCCCGGGCGGCGCTGGCCTCCCGCAGCCCCTCCACCAGACGCCGGTACTCGTCCCGCAGGCGCTGCTCGTCTGTCTCTTTGATCCTGCGGAGAGATGAGCTGGGGCTGGGAGGGGGCTGGCAACCCTGGGGACAAGTCAGACAGGGGCCAGGGTCCCAGGGGCAGGGCGGGCACCACCGCCAGACGTCCCCGGCCCCACCTGAGCACCGTCTTCTGCAGGGTCTCCAGGTTGCCCTGGCACCGGTCAAGGGTCCGGCGGGTGAGGTTGACGCTCATGGAGTCGATGCAGACGTTGTCTGGAGAAGGGGGAGAGAGCCGGCTCAGGCAGGCCTGCAGGGGCCTCACTCAGAGGGGCTGGCATCCCTTTGGCCCCTGGCGCCCCCCTCACCAATGTTGTGGGCCTCGTCGAAGACCACGACGGCCTTGCGGGCCAGTTCCTTGGACACCAGGTCTGCAATCTTGGGGTCCAGGAGGTAGTGGTAGCTATAAACCACCACATTGGCATGCAGGATCTGGGGGGCCGGGGAGCAGGGTTACCAGGGCCCTGCCACCCCAACCCCTACCCCTACCCCTGGCCACACTGGCCCGTCACTCCCACACAGGCCTGCACAGGCAGACACAGGCCAGGCAGAAGTATGAGCAGATGGATAGAGACAGACCAACAGATACGGGCACCCACCAACAGGGAGATGCAGACAGGCAGACTCACAGCAAGCAACAGACAGACATGGGCAGACAGGAGACGGGCGGGCAGCCCACACCCTCACACTCGCCCCTCTGCCCATCCCACCAGCCTCCTCACTGAGTATCGAGCAAGGAAGTATGGGCACCAGCCCTGGCGCCGCCCCAGGGCCTTCAGGTCATCCAGGTTGTAGATGCCAGCGGGGAGGGGCACCTCACGCCCATGGGCATCAAATTCCTGGGACAAGAGTGCCAGGGGTCAGGGAGGCTGCCTGCCCCAGGCTACCTGTCCTGCCTCCCTCCCTCAGCCCTGCCCTCCAGTAACCTCATAGAATCGGCAGTGGGGCAGGCTGGTGTCATGCTGGTACTGCGCCCGCACATAGGAGGCTGTGAGGCTGTGGCATTTCCCATCGACGTCCTTCCCAAAGCGCAGGGGTGTCACCTGGGGGTGTGGGGCATCTTAGCACCCAGACAGGGTGGAAACCCAACCACTCTTCAAACCCTGGTCTCCACACCTCCCAGCTGGCTGGGGTTTTGGACAACTTGAACCTCAGTCTGTTGCATTATTAGTTAAGACGCGTGGGAACTTAATGCAGGGATACAAGAGTAGTAAAATTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGTGAGGCTGAGGTGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGTATCCGGGAGGTGGAGGTTGCAGTGAGCAGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGTGAGACACCATCTCAAAAAAATAAGTAAAAATAAAAATACAAAAATGAGCCAGGTGTGGTGGTGCACACCTGGAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGTACTCCACCCTGGGCCACGGAGCCAGACTCCCTCTCAAAAAAAAAAAGAGTAGCAAAATTGTTACATTCTTACAACTACAAGTTATACATACATATTTTTGGAGACAAGTCCCTCTGCTACTCAGGCTGGAATGCAGTGGCCCAA
|
pathogenic
| 306,399 |
Does the genetic variant at chromosome 19, position 45363958, impacting gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
benign
|
CCTCCTAAGTGGGTTCTTTTTTTCTTTTTCTTTTTTTTCTTTGTTCAGATGGAGTCTTGCCCTGTCATCCAGGCTGGAGAGCACTGGTACCATCTCGACTCCGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACTCAGCTAATTTTTGTACTTTTAGTAGAGACGGACTTTCACTATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGTGTGAGCCACTGCACCTGGCCCTAAGTGGGTTCTGATCAAAACAAGAGACGCACAATCACACCCAGAACCCCCCAGTCATGGCATTAATCCCGCATGGCCACATGGTCACGCATTCACACCCAGAGCCTCTCCCACTGCCTCTCACGCACCTATGGGGACACACACGGTGTCGGAACCCCATGGGCTCACAGAGGAATGCAGTCAACACCCACATCCCACAGAGTCCCACGGATACCACGTCCACACACTCACGCATGTGCAGGGCCACTCGGCCACAACCACACACAGGCAGGGCCGAGGCAGGGTCATAGAGCAGCTGGCTTTGAAGCCAGGTGGGCAGTCACACTTGCAAACCTGCCTCCCGCACGTCAGCCCTCCCAGCCTGGCTCCTCTAACCCCAGGCGCCTACCCCGGCTGGTCGCTAGCTGAGGATGAGTCTGTCCCCTCCACTGGGCCATGGAGCCTCTACGGCTGTGTCCCCAGCATGAAGCAGGCACTTGGGGAATGTGTGTTGAGTGACTGAGATCCCCTCTTTGCCCTCACAAGTCTCCAATCCTGGGGAAGATGGGCAAACCCACATGGAAGGTGGCCTCACCCACAGAGGCAGGGCAGCCAGGGCCTTTGGAGCCCACAGGCATGGCTTCAAGCCCCAACTACCGGGCACAGTGCTGTGTGGCTCTGGGCAAAGGCTTCCCCTCTGGGAGTCCCAGTGTCCTCATTTGCAGGGTGGGGATGCTGTACTGGGGGTGCAACTGAGGTAAGGAACATAAAGGGCTTAGCTCCTCCTTAGTGCTCAGGGCAGGGTAGGTGATTGGCTTCGCTGCTCTCTCATTAACCCACCAAAGAACCCTGTGAAGTAAAGACCCGACTCCTTGGCCATTTTACAAAGGAGGAAACTGCAGTTCAAAGAAGACCCATGACTTACCCAAAGGAAAAGCCCCCTCGTATCCCTTGGTCATTCTCTGCCTGCCCTGTGCCTCAAGAGACTGACTCCCCCAAAATGCGCCCAGACTACTCCATGGGGACGCCCCTGCCCTCAGGTTTGGAAGATTAGAGGCATCGGTGGGAAGATACATGGGCCGGGGACACCTCCTCCAGCTCCCAGCCTGCGAGGCCCTGGTACTGGTTTCTGCTCCCAGCAGAAGCCCCTGTCCAGGCCCCCACCAGTTGGTTCTCAACACACTCCCTCCCTGCCGCTGTGGCCTGGCTTAGCTCCCAGCTCTCACCTCCCACCCTCCTTGGCTCCTCCCCCAGCCCGCCCCTCTGTAAATGGTGCTCCCACTCTCTCTTGGGTGGGGGAGATTCTCCAATCCAGCCAGGTGTTGCCTGCCAGGCCCCTGCCCGACGCACGGACCCAGGATCAGCTCCAACCTTGCTCCCGGACCTCCCAGGTCAGACCAGACAAGGTCCCACGTGCCTCGCCCAGCTCACTCACTCCTGATGCTGCAGTGGTGACCTGGGGCTACAGGCGTGGAGGACACGGCTCTGCATAACCGGGACCTGCCGGGCCCCCACCCCGCGCGCTGTCTGGGGCCGCACCTGAGGGGCTTGCGCTGGATGCACACGCGCTGGGCCAGGCCGCTCAGGAAGGCGGGCGGGCTCTCCTGCACCACATGCTGCACACGCAGCCGCCACTTCACGTACTCCAGCAGCCGCCTCAGGAAGCCCAGGAAATGCTCGGCCGTGCGGATGGAGCCAGGCACTGCCTCTGCGAGGAGACGCTATCAGCGGCGACGGGGAGGCGGGAAAGGGACTGGGGGGCAGCGGGGGGTCGGGGCTCACCCTGCAGCACTTCGTCGGGCAGCACGGGGTTGGCCAGGTGGGCGTCCGTCTCCCGGGCGGCGCTGGCCTCCCGCAGCCCCTCCACCAGACGCCGGTACTCGTCCCGCAGGCGCTGCTCGTCTGTCTCTTTGATCCTGCGGAGAGATGAGCTGGGGCTGGGAGGGGGCTGGCAACCCTGGGGACAAGTCAGACAGGGGCCAGGGTCCCAGGGGCAGGGCGGGCACCACCGCCAGACGTCCCCGGCCCCACCTGAGCACCGTCTTCTGCAGGGTCTCCAGGTTGCCCTGGCACCGGTCAAGGGTCCGGCGGGTGAGGTTGACGCTCATGGAGTCGATGCAGACGTTGTCTGGAGAAGGGGGAGAGAGCCGGCTCAGGCAGGCCTGCAGGGGCCTCACTCAGAGGGGCTGGCATCCCTTTGGCCCCTGGCGCCCCCCTCACCAATGTTGTGGGCCTCGTCGAAGACCACGACGGCCTTGCGGGCCAGTTCCTTGGACACCAGGTCTGCAATCTTGGGGTCCAGGAGGTAGTGGTAGCTATAAACCACCACATTGGCATGCAGGATCTGGGGGGCCGGGGAGCAGGGTTACCAGGGCCCTGCCACCCCAACCCCTACCCCTACCCCTGGCCACACTGGCCCGTCACTCCCACACAGGCCTGCACAGGCAGACACAGGCCAGGCAGAAGTATGAGCAGATGGATAGAGACAGACCAACAGATACGGGCACCCACCAACAGGGAGATGCAGACAGGCAGACTCACAGCAAGCAACAGACAGACATGGGCAGACAGGAGACGGGCGGGCAGCCCACACCCTCACACTCGCCCCTCTGCCCATCCCACCAGCCTCCTCACTGAGTATCGAGCAAGGAAGTATGGGCACCAGCCCTGGCGCCGCCCCAGGGCCTTCAGGTCATCCAGGTTGTAGATGCCAGCGGGGAGGGGCACCTCACGCCCATGGGCATCAAATTCCTGGGACAAGAGTGCCAGGGGTCAGGGAGGCTGCCTGCCCCAGGCTACCTGTCCTGCCTCCCTCCCTCAGCCCTGCCCTCCAGTAACCTCATAGAATCGGCAGTGGGGCAGGCTGGTGTCATGCTGGTACTGCGCCCGCACATAGGAGGCTGTGAGGCTGTGGCATTTCCCATCGACGTCCTTCCCAAAGCGCAGGGGTGTCACCTGGGGGTGTGGGGCATCTTAGCACCCAGACAGGGTGGAAACCCAACCACTCTTCAAACCCTGGTCTCCACACCTCCCAGCTGGCTGGGGTTTTGGACAACTTGAACCTCAGTCTGTTGCATTATTAGTTAAGACGCGTGGGAACTTAATGCAGGGATACAAGAGTAGTAAAATTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGTGAGGCTGAGGTGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGTATCCGGGAGGTGGAGGTTGCAGTGAGCAGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGTGAGACACCATCTCAAAAAAATAAGTAAAAATAAAAATACAAAAATGAGCCAGGTGTGGTGGTGCACACCTGGAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGTACTCCACCCTGGGCCACGGAGCCAGACTCCCTCTCAAAAAAAAAAAGAGTAGCAAAATTGTTACATTCTTACAACTACAAGTTATACATACATATTTTTGGAGACAAGTCCCTCTGCTACTCAGGCTGGAATGCAGTGGCCCAATCACGGCTCACTACATCCTTGACCTCCCAGGCTCAAGTGATCCTTCCCCCACTCAGCCTCCCGAGTAGCTGCGGCCACAGGTGTGCACCACCATGCCCGGCTAATT
|
CCTCCTAAGTGGGTTCTTTTTTTCTTTTTCTTTTTTTTCTTTGTTCAGATGGAGTCTTGCCCTGTCATCCAGGCTGGAGAGCACTGGTACCATCTCGACTCCGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACTCAGCTAATTTTTGTACTTTTAGTAGAGACGGACTTTCACTATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGTGTGAGCCACTGCACCTGGCCCTAAGTGGGTTCTGATCAAAACAAGAGACGCACAATCACACCCAGAACCCCCCAGTCATGGCATTAATCCCGCATGGCCACATGGTCACGCATTCACACCCAGAGCCTCTCCCACTGCCTCTCACGCACCTATGGGGACACACACGGTGTCGGAACCCCATGGGCTCACAGAGGAATGCAGTCAACACCCACATCCCACAGAGTCCCACGGATACCACGTCCACACACTCACGCATGTGCAGGGCCACTCGGCCACAACCACACACAGGCAGGGCCGAGGCAGGGTCATAGAGCAGCTGGCTTTGAAGCCAGGTGGGCAGTCACACTTGCAAACCTGCCTCCCGCACGTCAGCCCTCCCAGCCTGGCTCCTCTAACCCCAGGCGCCTACCCCGGCTGGTCGCTAGCTGAGGATGAGTCTGTCCCCTCCACTGGGCCATGGAGCCTCTACGGCTGTGTCCCCAGCATGAAGCAGGCACTTGGGGAATGTGTGTTGAGTGACTGAGATCCCCTCTTTGCCCTCACAAGTCTCCAATCCTGGGGAAGATGGGCAAACCCACATGGAAGGTGGCCTCACCCACAGAGGCAGGGCAGCCAGGGCCTTTGGAGCCCACAGGCATGGCTTCAAGCCCCAACTACCGGGCACAGTGCTGTGTGGCTCTGGGCAAAGGCTTCCCCTCTGGGAGTCCCAGTGTCCTCATTTGCAGGGTGGGGATGCTGTACTGGGGGTGCAACTGAGGTAAGGAACATAAAGGGCTTAGCTCCTCCTTAGTGCTCAGGGCAGGGTAGGTGATTGGCTTCGCTGCTCTCTCATTAACCCACCAAAGAACCCTGTGAAGTAAAGACCCGACTCCTTGGCCATTTTACAAAGGAGGAAACTGCAGTTCAAAGAAGACCCATGACTTACCCAAAGGAAAAGCCCCCTCGTATCCCTTGGTCATTCTCTGCCTGCCCTGTGCCTCAAGAGACTGACTCCCCCAAAATGCGCCCAGACTACTCCATGGGGACGCCCCTGCCCTCAGGTTTGGAAGATTAGAGGCATCGGTGGGAAGATACATGGGCCGGGGACACCTCCTCCAGCTCCCAGCCTGCGAGGCCCTGGTACTGGTTTCTGCTCCCAGCAGAAGCCCCTGTCCAGGCCCCCACCAGTTGGTTCTCAACACACTCCCTCCCTGCCGCTGTGGCCTGGCTTAGCTCCCAGCTCTCACCTCCCACCCTCCTTGGCTCCTCCCCCAGCCCGCCCCTCTGTAAATGGTGCTCCCACTCTCTCTTGGGTGGGGGAGATTCTCCAATCCAGCCAGGTGTTGCCTGCCAGGCCCCTGCCCGACGCACGGACCCAGGATCAGCTCCAACCTTGCTCCCGGACCTCCCAGGTCAGACCAGACAAGGTCCCACGTGCCTCGCCCAGCTCACTCACTCCTGATGCTGCAGTGGTGACCTGGGGCTACAGGCGTGGAGGACACGGCTCTGCATAACCGGGACCTGCCGGGCCCCCACCCCGCGCGCTGTCTGGGGCCGCACCTGAGGGGCTTGCGCTGGATGCACACGCGCTGGGCCAGGCCGCTCAGGAAGGCGGGCGGGCTCTCCTGCACCACATGCTGCACACGCAGCCGCCACTTCACGTACTCCAGCAGCCGCCTCAGGAAGCCCAGGAAATGCTCGGCCGTGCGGATGGAGCCAGGCACTGCCTCTGCGAGGAGACGCTATCAGCGGCGACGGGGAGGCGGGAAAGGGACTGGGGGGGCAGCGGGGGGTCGGGGCTCACCCTGCAGCACTTCGTCGGGCAGCACGGGGTTGGCCAGGTGGGCGTCCGTCTCCCGGGCGGCGCTGGCCTCCCGCAGCCCCTCCACCAGACGCCGGTACTCGTCCCGCAGGCGCTGCTCGTCTGTCTCTTTGATCCTGCGGAGAGATGAGCTGGGGCTGGGAGGGGGCTGGCAACCCTGGGGACAAGTCAGACAGGGGCCAGGGTCCCAGGGGCAGGGCGGGCACCACCGCCAGACGTCCCCGGCCCCACCTGAGCACCGTCTTCTGCAGGGTCTCCAGGTTGCCCTGGCACCGGTCAAGGGTCCGGCGGGTGAGGTTGACGCTCATGGAGTCGATGCAGACGTTGTCTGGAGAAGGGGGAGAGAGCCGGCTCAGGCAGGCCTGCAGGGGCCTCACTCAGAGGGGCTGGCATCCCTTTGGCCCCTGGCGCCCCCCTCACCAATGTTGTGGGCCTCGTCGAAGACCACGACGGCCTTGCGGGCCAGTTCCTTGGACACCAGGTCTGCAATCTTGGGGTCCAGGAGGTAGTGGTAGCTATAAACCACCACATTGGCATGCAGGATCTGGGGGGCCGGGGAGCAGGGTTACCAGGGCCCTGCCACCCCAACCCCTACCCCTACCCCTGGCCACACTGGCCCGTCACTCCCACACAGGCCTGCACAGGCAGACACAGGCCAGGCAGAAGTATGAGCAGATGGATAGAGACAGACCAACAGATACGGGCACCCACCAACAGGGAGATGCAGACAGGCAGACTCACAGCAAGCAACAGACAGACATGGGCAGACAGGAGACGGGCGGGCAGCCCACACCCTCACACTCGCCCCTCTGCCCATCCCACCAGCCTCCTCACTGAGTATCGAGCAAGGAAGTATGGGCACCAGCCCTGGCGCCGCCCCAGGGCCTTCAGGTCATCCAGGTTGTAGATGCCAGCGGGGAGGGGCACCTCACGCCCATGGGCATCAAATTCCTGGGACAAGAGTGCCAGGGGTCAGGGAGGCTGCCTGCCCCAGGCTACCTGTCCTGCCTCCCTCCCTCAGCCCTGCCCTCCAGTAACCTCATAGAATCGGCAGTGGGGCAGGCTGGTGTCATGCTGGTACTGCGCCCGCACATAGGAGGCTGTGAGGCTGTGGCATTTCCCATCGACGTCCTTCCCAAAGCGCAGGGGTGTCACCTGGGGGTGTGGGGCATCTTAGCACCCAGACAGGGTGGAAACCCAACCACTCTTCAAACCCTGGTCTCCACACCTCCCAGCTGGCTGGGGTTTTGGACAACTTGAACCTCAGTCTGTTGCATTATTAGTTAAGACGCGTGGGAACTTAATGCAGGGATACAAGAGTAGTAAAATTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGTGAGGCTGAGGTGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGTATCCGGGAGGTGGAGGTTGCAGTGAGCAGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGTGAGACACCATCTCAAAAAAATAAGTAAAAATAAAAATACAAAAATGAGCCAGGTGTGGTGGTGCACACCTGGAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGTACTCCACCCTGGGCCACGGAGCCAGACTCCCTCTCAAAAAAAAAAAGAGTAGCAAAATTGTTACATTCTTACAACTACAAGTTATACATACATATTTTTGGAGACAAGTCCCTCTGCTACTCAGGCTGGAATGCAGTGGCCCAATCACGGCTCACTACATCCTTGACCTCCCAGGCTCAAGTGATCCTTCCCCCACTCAGCCTCCCGAGTAGCTGCGGCCACAGGTGTGCACCACCATGCCCGGCTAAT
|
benign
| 306,409 |
Chromosome 19, position 45364082, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum,_group_D']
|
TCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACTCAGCTAATTTTTGTACTTTTAGTAGAGACGGACTTTCACTATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGTGTGAGCCACTGCACCTGGCCCTAAGTGGGTTCTGATCAAAACAAGAGACGCACAATCACACCCAGAACCCCCCAGTCATGGCATTAATCCCGCATGGCCACATGGTCACGCATTCACACCCAGAGCCTCTCCCACTGCCTCTCACGCACCTATGGGGACACACACGGTGTCGGAACCCCATGGGCTCACAGAGGAATGCAGTCAACACCCACATCCCACAGAGTCCCACGGATACCACGTCCACACACTCACGCATGTGCAGGGCCACTCGGCCACAACCACACACAGGCAGGGCCGAGGCAGGGTCATAGAGCAGCTGGCTTTGAAGCCAGGTGGGCAGTCACACTTGCAAACCTGCCTCCCGCACGTCAGCCCTCCCAGCCTGGCTCCTCTAACCCCAGGCGCCTACCCCGGCTGGTCGCTAGCTGAGGATGAGTCTGTCCCCTCCACTGGGCCATGGAGCCTCTACGGCTGTGTCCCCAGCATGAAGCAGGCACTTGGGGAATGTGTGTTGAGTGACTGAGATCCCCTCTTTGCCCTCACAAGTCTCCAATCCTGGGGAAGATGGGCAAACCCACATGGAAGGTGGCCTCACCCACAGAGGCAGGGCAGCCAGGGCCTTTGGAGCCCACAGGCATGGCTTCAAGCCCCAACTACCGGGCACAGTGCTGTGTGGCTCTGGGCAAAGGCTTCCCCTCTGGGAGTCCCAGTGTCCTCATTTGCAGGGTGGGGATGCTGTACTGGGGGTGCAACTGAGGTAAGGAACATAAAGGGCTTAGCTCCTCCTTAGTGCTCAGGGCAGGGTAGGTGATTGGCTTCGCTGCTCTCTCATTAACCCACCAAAGAACCCTGTGAAGTAAAGACCCGACTCCTTGGCCATTTTACAAAGGAGGAAACTGCAGTTCAAAGAAGACCCATGACTTACCCAAAGGAAAAGCCCCCTCGTATCCCTTGGTCATTCTCTGCCTGCCCTGTGCCTCAAGAGACTGACTCCCCCAAAATGCGCCCAGACTACTCCATGGGGACGCCCCTGCCCTCAGGTTTGGAAGATTAGAGGCATCGGTGGGAAGATACATGGGCCGGGGACACCTCCTCCAGCTCCCAGCCTGCGAGGCCCTGGTACTGGTTTCTGCTCCCAGCAGAAGCCCCTGTCCAGGCCCCCACCAGTTGGTTCTCAACACACTCCCTCCCTGCCGCTGTGGCCTGGCTTAGCTCCCAGCTCTCACCTCCCACCCTCCTTGGCTCCTCCCCCAGCCCGCCCCTCTGTAAATGGTGCTCCCACTCTCTCTTGGGTGGGGGAGATTCTCCAATCCAGCCAGGTGTTGCCTGCCAGGCCCCTGCCCGACGCACGGACCCAGGATCAGCTCCAACCTTGCTCCCGGACCTCCCAGGTCAGACCAGACAAGGTCCCACGTGCCTCGCCCAGCTCACTCACTCCTGATGCTGCAGTGGTGACCTGGGGCTACAGGCGTGGAGGACACGGCTCTGCATAACCGGGACCTGCCGGGCCCCCACCCCGCGCGCTGTCTGGGGCCGCACCTGAGGGGCTTGCGCTGGATGCACACGCGCTGGGCCAGGCCGCTCAGGAAGGCGGGCGGGCTCTCCTGCACCACATGCTGCACACGCAGCCGCCACTTCACGTACTCCAGCAGCCGCCTCAGGAAGCCCAGGAAATGCTCGGCCGTGCGGATGGAGCCAGGCACTGCCTCTGCGAGGAGACGCTATCAGCGGCGACGGGGAGGCGGGAAAGGGACTGGGGGGCAGCGGGGGGTCGGGGCTCACCCTGCAGCACTTCGTCGGGCAGCACGGGGTTGGCCAGGTGGGCGTCCGTCTCCCGGGCGGCGCTGGCCTCCCGCAGCCCCTCCACCAGACGCCGGTACTCGTCCCGCAGGCGCTGCTCGTCTGTCTCTTTGATCCTGCGGAGAGATGAGCTGGGGCTGGGAGGGGGCTGGCAACCCTGGGGACAAGTCAGACAGGGGCCAGGGTCCCAGGGGCAGGGCGGGCACCACCGCCAGACGTCCCCGGCCCCACCTGAGCACCGTCTTCTGCAGGGTCTCCAGGTTGCCCTGGCACCGGTCAAGGGTCCGGCGGGTGAGGTTGACGCTCATGGAGTCGATGCAGACGTTGTCTGGAGAAGGGGGAGAGAGCCGGCTCAGGCAGGCCTGCAGGGGCCTCACTCAGAGGGGCTGGCATCCCTTTGGCCCCTGGCGCCCCCCTCACCAATGTTGTGGGCCTCGTCGAAGACCACGACGGCCTTGCGGGCCAGTTCCTTGGACACCAGGTCTGCAATCTTGGGGTCCAGGAGGTAGTGGTAGCTATAAACCACCACATTGGCATGCAGGATCTGGGGGGCCGGGGAGCAGGGTTACCAGGGCCCTGCCACCCCAACCCCTACCCCTACCCCTGGCCACACTGGCCCGTCACTCCCACACAGGCCTGCACAGGCAGACACAGGCCAGGCAGAAGTATGAGCAGATGGATAGAGACAGACCAACAGATACGGGCACCCACCAACAGGGAGATGCAGACAGGCAGACTCACAGCAAGCAACAGACAGACATGGGCAGACAGGAGACGGGCGGGCAGCCCACACCCTCACACTCGCCCCTCTGCCCATCCCACCAGCCTCCTCACTGAGTATCGAGCAAGGAAGTATGGGCACCAGCCCTGGCGCCGCCCCAGGGCCTTCAGGTCATCCAGGTTGTAGATGCCAGCGGGGAGGGGCACCTCACGCCCATGGGCATCAAATTCCTGGGACAAGAGTGCCAGGGGTCAGGGAGGCTGCCTGCCCCAGGCTACCTGTCCTGCCTCCCTCCCTCAGCCCTGCCCTCCAGTAACCTCATAGAATCGGCAGTGGGGCAGGCTGGTGTCATGCTGGTACTGCGCCCGCACATAGGAGGCTGTGAGGCTGTGGCATTTCCCATCGACGTCCTTCCCAAAGCGCAGGGGTGTCACCTGGGGGTGTGGGGCATCTTAGCACCCAGACAGGGTGGAAACCCAACCACTCTTCAAACCCTGGTCTCCACACCTCCCAGCTGGCTGGGGTTTTGGACAACTTGAACCTCAGTCTGTTGCATTATTAGTTAAGACGCGTGGGAACTTAATGCAGGGATACAAGAGTAGTAAAATTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGTGAGGCTGAGGTGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGTATCCGGGAGGTGGAGGTTGCAGTGAGCAGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGTGAGACACCATCTCAAAAAAATAAGTAAAAATAAAAATACAAAAATGAGCCAGGTGTGGTGGTGCACACCTGGAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGTACTCCACCCTGGGCCACGGAGCCAGACTCCCTCTCAAAAAAAAAAAGAGTAGCAAAATTGTTACATTCTTACAACTACAAGTTATACATACATATTTTTGGAGACAAGTCCCTCTGCTACTCAGGCTGGAATGCAGTGGCCCAATCACGGCTCACTACATCCTTGACCTCCCAGGCTCAAGTGATCCTTCCCCCACTCAGCCTCCCGAGTAGCTGCGGCCACAGGTGTGCACCACCATGCCCGGCTAATTTTTGTCTTCTTAGTTGAGATGAGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGTCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTGAGCCACTGCGC
|
TCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACTCAGCTAATTTTTGTACTTTTAGTAGAGACGGACTTTCACTATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGTGTGAGCCACTGCACCTGGCCCTAAGTGGGTTCTGATCAAAACAAGAGACGCACAATCACACCCAGAACCCCCCAGTCATGGCATTAATCCCGCATGGCCACATGGTCACGCATTCACACCCAGAGCCTCTCCCACTGCCTCTCACGCACCTATGGGGACACACACGGTGTCGGAACCCCATGGGCTCACAGAGGAATGCAGTCAACACCCACATCCCACAGAGTCCCACGGATACCACGTCCACACACTCACGCATGTGCAGGGCCACTCGGCCACAACCACACACAGGCAGGGCCGAGGCAGGGTCATAGAGCAGCTGGCTTTGAAGCCAGGTGGGCAGTCACACTTGCAAACCTGCCTCCCGCACGTCAGCCCTCCCAGCCTGGCTCCTCTAACCCCAGGCGCCTACCCCGGCTGGTCGCTAGCTGAGGATGAGTCTGTCCCCTCCACTGGGCCATGGAGCCTCTACGGCTGTGTCCCCAGCATGAAGCAGGCACTTGGGGAATGTGTGTTGAGTGACTGAGATCCCCTCTTTGCCCTCACAAGTCTCCAATCCTGGGGAAGATGGGCAAACCCACATGGAAGGTGGCCTCACCCACAGAGGCAGGGCAGCCAGGGCCTTTGGAGCCCACAGGCATGGCTTCAAGCCCCAACTACCGGGCACAGTGCTGTGTGGCTCTGGGCAAAGGCTTCCCCTCTGGGAGTCCCAGTGTCCTCATTTGCAGGGTGGGGATGCTGTACTGGGGGTGCAACTGAGGTAAGGAACATAAAGGGCTTAGCTCCTCCTTAGTGCTCAGGGCAGGGTAGGTGATTGGCTTCGCTGCTCTCTCATTAACCCACCAAAGAACCCTGTGAAGTAAAGACCCGACTCCTTGGCCATTTTACAAAGGAGGAAACTGCAGTTCAAAGAAGACCCATGACTTACCCAAAGGAAAAGCCCCCTCGTATCCCTTGGTCATTCTCTGCCTGCCCTGTGCCTCAAGAGACTGACTCCCCCAAAATGCGCCCAGACTACTCCATGGGGACGCCCCTGCCCTCAGGTTTGGAAGATTAGAGGCATCGGTGGGAAGATACATGGGCCGGGGACACCTCCTCCAGCTCCCAGCCTGCGAGGCCCTGGTACTGGTTTCTGCTCCCAGCAGAAGCCCCTGTCCAGGCCCCCACCAGTTGGTTCTCAACACACTCCCTCCCTGCCGCTGTGGCCTGGCTTAGCTCCCAGCTCTCACCTCCCACCCTCCTTGGCTCCTCCCCCAGCCCGCCCCTCTGTAAATGGTGCTCCCACTCTCTCTTGGGTGGGGGAGATTCTCCAATCCAGCCAGGTGTTGCCTGCCAGGCCCCTGCCCGACGCACGGACCCAGGATCAGCTCCAACCTTGCTCCCGGACCTCCCAGGTCAGACCAGACAAGGTCCCACGTGCCTCGCCCAGCTCACTCACTCCTGATGCTGCAGTGGTGACCTGGGGCTACAGGCGTGGAGGACACGGCTCTGCATAACCGGGACCTGCCGGGCCCCCACCCCGCGCGCTGTCTGGGGCCGCACCTGAGGGGCTTGCGCTGGATGCACACGCGCTGGGCCAGGCCGCTCAGGAAGGCGGGCGGGCTCTCCTGCACCACATGCTGCACACGCAGCCGCCACTTCACGTACTCCAGCAGCCGCCTCAGGAAGCCCAGGAAATGCTCGGCCGTGCGGATGGAGCCAGGCACTGCCTCTGCGAGGAGACGCTATCAGCGGCGACGGGGAGGCGGGAAAGGGACTGGGGGGCAGCGGGGGGTCGGGGCTCACCCTGCAGCACTTCGTCGGGCAGCACGGGGTTGGCCAGGTGGGCGTCCGTCTCCCGGGCGGCGCTGGCCTCCCGCAGCCCCTCCACCAGACGCCGGTATCGTCCCGCAGGCGCTGCTCGTCTGTCTCTTTGATCCTGCGGAGAGATGAGCTGGGGCTGGGAGGGGGCTGGCAACCCTGGGGACAAGTCAGACAGGGGCCAGGGTCCCAGGGGCAGGGCGGGCACCACCGCCAGACGTCCCCGGCCCCACCTGAGCACCGTCTTCTGCAGGGTCTCCAGGTTGCCCTGGCACCGGTCAAGGGTCCGGCGGGTGAGGTTGACGCTCATGGAGTCGATGCAGACGTTGTCTGGAGAAGGGGGAGAGAGCCGGCTCAGGCAGGCCTGCAGGGGCCTCACTCAGAGGGGCTGGCATCCCTTTGGCCCCTGGCGCCCCCCTCACCAATGTTGTGGGCCTCGTCGAAGACCACGACGGCCTTGCGGGCCAGTTCCTTGGACACCAGGTCTGCAATCTTGGGGTCCAGGAGGTAGTGGTAGCTATAAACCACCACATTGGCATGCAGGATCTGGGGGGCCGGGGAGCAGGGTTACCAGGGCCCTGCCACCCCAACCCCTACCCCTACCCCTGGCCACACTGGCCCGTCACTCCCACACAGGCCTGCACAGGCAGACACAGGCCAGGCAGAAGTATGAGCAGATGGATAGAGACAGACCAACAGATACGGGCACCCACCAACAGGGAGATGCAGACAGGCAGACTCACAGCAAGCAACAGACAGACATGGGCAGACAGGAGACGGGCGGGCAGCCCACACCCTCACACTCGCCCCTCTGCCCATCCCACCAGCCTCCTCACTGAGTATCGAGCAAGGAAGTATGGGCACCAGCCCTGGCGCCGCCCCAGGGCCTTCAGGTCATCCAGGTTGTAGATGCCAGCGGGGAGGGGCACCTCACGCCCATGGGCATCAAATTCCTGGGACAAGAGTGCCAGGGGTCAGGGAGGCTGCCTGCCCCAGGCTACCTGTCCTGCCTCCCTCCCTCAGCCCTGCCCTCCAGTAACCTCATAGAATCGGCAGTGGGGCAGGCTGGTGTCATGCTGGTACTGCGCCCGCACATAGGAGGCTGTGAGGCTGTGGCATTTCCCATCGACGTCCTTCCCAAAGCGCAGGGGTGTCACCTGGGGGTGTGGGGCATCTTAGCACCCAGACAGGGTGGAAACCCAACCACTCTTCAAACCCTGGTCTCCACACCTCCCAGCTGGCTGGGGTTTTGGACAACTTGAACCTCAGTCTGTTGCATTATTAGTTAAGACGCGTGGGAACTTAATGCAGGGATACAAGAGTAGTAAAATTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGTGAGGCTGAGGTGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGTATCCGGGAGGTGGAGGTTGCAGTGAGCAGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGTGAGACACCATCTCAAAAAAATAAGTAAAAATAAAAATACAAAAATGAGCCAGGTGTGGTGGTGCACACCTGGAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGTACTCCACCCTGGGCCACGGAGCCAGACTCCCTCTCAAAAAAAAAAAGAGTAGCAAAATTGTTACATTCTTACAACTACAAGTTATACATACATATTTTTGGAGACAAGTCCCTCTGCTACTCAGGCTGGAATGCAGTGGCCCAATCACGGCTCACTACATCCTTGACCTCCCAGGCTCAAGTGATCCTTCCCCCACTCAGCCTCCCGAGTAGCTGCGGCCACAGGTGTGCACCACCATGCCCGGCTAATTTTTGTCTTCTTAGTTGAGATGAGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGTCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTGAGCCACTGCGCN
|
pathogenic
| 306,425 |
The chromosome 19, position 45364085 genetic variant in gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum,_group_D']
|
TGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACTCAGCTAATTTTTGTACTTTTAGTAGAGACGGACTTTCACTATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGTGTGAGCCACTGCACCTGGCCCTAAGTGGGTTCTGATCAAAACAAGAGACGCACAATCACACCCAGAACCCCCCAGTCATGGCATTAATCCCGCATGGCCACATGGTCACGCATTCACACCCAGAGCCTCTCCCACTGCCTCTCACGCACCTATGGGGACACACACGGTGTCGGAACCCCATGGGCTCACAGAGGAATGCAGTCAACACCCACATCCCACAGAGTCCCACGGATACCACGTCCACACACTCACGCATGTGCAGGGCCACTCGGCCACAACCACACACAGGCAGGGCCGAGGCAGGGTCATAGAGCAGCTGGCTTTGAAGCCAGGTGGGCAGTCACACTTGCAAACCTGCCTCCCGCACGTCAGCCCTCCCAGCCTGGCTCCTCTAACCCCAGGCGCCTACCCCGGCTGGTCGCTAGCTGAGGATGAGTCTGTCCCCTCCACTGGGCCATGGAGCCTCTACGGCTGTGTCCCCAGCATGAAGCAGGCACTTGGGGAATGTGTGTTGAGTGACTGAGATCCCCTCTTTGCCCTCACAAGTCTCCAATCCTGGGGAAGATGGGCAAACCCACATGGAAGGTGGCCTCACCCACAGAGGCAGGGCAGCCAGGGCCTTTGGAGCCCACAGGCATGGCTTCAAGCCCCAACTACCGGGCACAGTGCTGTGTGGCTCTGGGCAAAGGCTTCCCCTCTGGGAGTCCCAGTGTCCTCATTTGCAGGGTGGGGATGCTGTACTGGGGGTGCAACTGAGGTAAGGAACATAAAGGGCTTAGCTCCTCCTTAGTGCTCAGGGCAGGGTAGGTGATTGGCTTCGCTGCTCTCTCATTAACCCACCAAAGAACCCTGTGAAGTAAAGACCCGACTCCTTGGCCATTTTACAAAGGAGGAAACTGCAGTTCAAAGAAGACCCATGACTTACCCAAAGGAAAAGCCCCCTCGTATCCCTTGGTCATTCTCTGCCTGCCCTGTGCCTCAAGAGACTGACTCCCCCAAAATGCGCCCAGACTACTCCATGGGGACGCCCCTGCCCTCAGGTTTGGAAGATTAGAGGCATCGGTGGGAAGATACATGGGCCGGGGACACCTCCTCCAGCTCCCAGCCTGCGAGGCCCTGGTACTGGTTTCTGCTCCCAGCAGAAGCCCCTGTCCAGGCCCCCACCAGTTGGTTCTCAACACACTCCCTCCCTGCCGCTGTGGCCTGGCTTAGCTCCCAGCTCTCACCTCCCACCCTCCTTGGCTCCTCCCCCAGCCCGCCCCTCTGTAAATGGTGCTCCCACTCTCTCTTGGGTGGGGGAGATTCTCCAATCCAGCCAGGTGTTGCCTGCCAGGCCCCTGCCCGACGCACGGACCCAGGATCAGCTCCAACCTTGCTCCCGGACCTCCCAGGTCAGACCAGACAAGGTCCCACGTGCCTCGCCCAGCTCACTCACTCCTGATGCTGCAGTGGTGACCTGGGGCTACAGGCGTGGAGGACACGGCTCTGCATAACCGGGACCTGCCGGGCCCCCACCCCGCGCGCTGTCTGGGGCCGCACCTGAGGGGCTTGCGCTGGATGCACACGCGCTGGGCCAGGCCGCTCAGGAAGGCGGGCGGGCTCTCCTGCACCACATGCTGCACACGCAGCCGCCACTTCACGTACTCCAGCAGCCGCCTCAGGAAGCCCAGGAAATGCTCGGCCGTGCGGATGGAGCCAGGCACTGCCTCTGCGAGGAGACGCTATCAGCGGCGACGGGGAGGCGGGAAAGGGACTGGGGGGCAGCGGGGGGTCGGGGCTCACCCTGCAGCACTTCGTCGGGCAGCACGGGGTTGGCCAGGTGGGCGTCCGTCTCCCGGGCGGCGCTGGCCTCCCGCAGCCCCTCCACCAGACGCCGGTACTCGTCCCGCAGGCGCTGCTCGTCTGTCTCTTTGATCCTGCGGAGAGATGAGCTGGGGCTGGGAGGGGGCTGGCAACCCTGGGGACAAGTCAGACAGGGGCCAGGGTCCCAGGGGCAGGGCGGGCACCACCGCCAGACGTCCCCGGCCCCACCTGAGCACCGTCTTCTGCAGGGTCTCCAGGTTGCCCTGGCACCGGTCAAGGGTCCGGCGGGTGAGGTTGACGCTCATGGAGTCGATGCAGACGTTGTCTGGAGAAGGGGGAGAGAGCCGGCTCAGGCAGGCCTGCAGGGGCCTCACTCAGAGGGGCTGGCATCCCTTTGGCCCCTGGCGCCCCCCTCACCAATGTTGTGGGCCTCGTCGAAGACCACGACGGCCTTGCGGGCCAGTTCCTTGGACACCAGGTCTGCAATCTTGGGGTCCAGGAGGTAGTGGTAGCTATAAACCACCACATTGGCATGCAGGATCTGGGGGGCCGGGGAGCAGGGTTACCAGGGCCCTGCCACCCCAACCCCTACCCCTACCCCTGGCCACACTGGCCCGTCACTCCCACACAGGCCTGCACAGGCAGACACAGGCCAGGCAGAAGTATGAGCAGATGGATAGAGACAGACCAACAGATACGGGCACCCACCAACAGGGAGATGCAGACAGGCAGACTCACAGCAAGCAACAGACAGACATGGGCAGACAGGAGACGGGCGGGCAGCCCACACCCTCACACTCGCCCCTCTGCCCATCCCACCAGCCTCCTCACTGAGTATCGAGCAAGGAAGTATGGGCACCAGCCCTGGCGCCGCCCCAGGGCCTTCAGGTCATCCAGGTTGTAGATGCCAGCGGGGAGGGGCACCTCACGCCCATGGGCATCAAATTCCTGGGACAAGAGTGCCAGGGGTCAGGGAGGCTGCCTGCCCCAGGCTACCTGTCCTGCCTCCCTCCCTCAGCCCTGCCCTCCAGTAACCTCATAGAATCGGCAGTGGGGCAGGCTGGTGTCATGCTGGTACTGCGCCCGCACATAGGAGGCTGTGAGGCTGTGGCATTTCCCATCGACGTCCTTCCCAAAGCGCAGGGGTGTCACCTGGGGGTGTGGGGCATCTTAGCACCCAGACAGGGTGGAAACCCAACCACTCTTCAAACCCTGGTCTCCACACCTCCCAGCTGGCTGGGGTTTTGGACAACTTGAACCTCAGTCTGTTGCATTATTAGTTAAGACGCGTGGGAACTTAATGCAGGGATACAAGAGTAGTAAAATTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGTGAGGCTGAGGTGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGTATCCGGGAGGTGGAGGTTGCAGTGAGCAGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGTGAGACACCATCTCAAAAAAATAAGTAAAAATAAAAATACAAAAATGAGCCAGGTGTGGTGGTGCACACCTGGAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGTACTCCACCCTGGGCCACGGAGCCAGACTCCCTCTCAAAAAAAAAAAGAGTAGCAAAATTGTTACATTCTTACAACTACAAGTTATACATACATATTTTTGGAGACAAGTCCCTCTGCTACTCAGGCTGGAATGCAGTGGCCCAATCACGGCTCACTACATCCTTGACCTCCCAGGCTCAAGTGATCCTTCCCCCACTCAGCCTCCCGAGTAGCTGCGGCCACAGGTGTGCACCACCATGCCCGGCTAATTTTTGTCTTCTTAGTTGAGATGAGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGTCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTGAGCCACTGCGCCCA
|
TGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACTCAGCTAATTTTTGTACTTTTAGTAGAGACGGACTTTCACTATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGTGTGAGCCACTGCACCTGGCCCTAAGTGGGTTCTGATCAAAACAAGAGACGCACAATCACACCCAGAACCCCCCAGTCATGGCATTAATCCCGCATGGCCACATGGTCACGCATTCACACCCAGAGCCTCTCCCACTGCCTCTCACGCACCTATGGGGACACACACGGTGTCGGAACCCCATGGGCTCACAGAGGAATGCAGTCAACACCCACATCCCACAGAGTCCCACGGATACCACGTCCACACACTCACGCATGTGCAGGGCCACTCGGCCACAACCACACACAGGCAGGGCCGAGGCAGGGTCATAGAGCAGCTGGCTTTGAAGCCAGGTGGGCAGTCACACTTGCAAACCTGCCTCCCGCACGTCAGCCCTCCCAGCCTGGCTCCTCTAACCCCAGGCGCCTACCCCGGCTGGTCGCTAGCTGAGGATGAGTCTGTCCCCTCCACTGGGCCATGGAGCCTCTACGGCTGTGTCCCCAGCATGAAGCAGGCACTTGGGGAATGTGTGTTGAGTGACTGAGATCCCCTCTTTGCCCTCACAAGTCTCCAATCCTGGGGAAGATGGGCAAACCCACATGGAAGGTGGCCTCACCCACAGAGGCAGGGCAGCCAGGGCCTTTGGAGCCCACAGGCATGGCTTCAAGCCCCAACTACCGGGCACAGTGCTGTGTGGCTCTGGGCAAAGGCTTCCCCTCTGGGAGTCCCAGTGTCCTCATTTGCAGGGTGGGGATGCTGTACTGGGGGTGCAACTGAGGTAAGGAACATAAAGGGCTTAGCTCCTCCTTAGTGCTCAGGGCAGGGTAGGTGATTGGCTTCGCTGCTCTCTCATTAACCCACCAAAGAACCCTGTGAAGTAAAGACCCGACTCCTTGGCCATTTTACAAAGGAGGAAACTGCAGTTCAAAGAAGACCCATGACTTACCCAAAGGAAAAGCCCCCTCGTATCCCTTGGTCATTCTCTGCCTGCCCTGTGCCTCAAGAGACTGACTCCCCCAAAATGCGCCCAGACTACTCCATGGGGACGCCCCTGCCCTCAGGTTTGGAAGATTAGAGGCATCGGTGGGAAGATACATGGGCCGGGGACACCTCCTCCAGCTCCCAGCCTGCGAGGCCCTGGTACTGGTTTCTGCTCCCAGCAGAAGCCCCTGTCCAGGCCCCCACCAGTTGGTTCTCAACACACTCCCTCCCTGCCGCTGTGGCCTGGCTTAGCTCCCAGCTCTCACCTCCCACCCTCCTTGGCTCCTCCCCCAGCCCGCCCCTCTGTAAATGGTGCTCCCACTCTCTCTTGGGTGGGGGAGATTCTCCAATCCAGCCAGGTGTTGCCTGCCAGGCCCCTGCCCGACGCACGGACCCAGGATCAGCTCCAACCTTGCTCCCGGACCTCCCAGGTCAGACCAGACAAGGTCCCACGTGCCTCGCCCAGCTCACTCACTCCTGATGCTGCAGTGGTGACCTGGGGCTACAGGCGTGGAGGACACGGCTCTGCATAACCGGGACCTGCCGGGCCCCCACCCCGCGCGCTGTCTGGGGCCGCACCTGAGGGGCTTGCGCTGGATGCACACGCGCTGGGCCAGGCCGCTCAGGAAGGCGGGCGGGCTCTCCTGCACCACATGCTGCACACGCAGCCGCCACTTCACGTACTCCAGCAGCCGCCTCAGGAAGCCCAGGAAATGCTCGGCCGTGCGGATGGAGCCAGGCACTGCCTCTGCGAGGAGACGCTATCAGCGGCGACGGGGAGGCGGGAAAGGGACTGGGGGGCAGCGGGGGGTCGGGGCTCACCCTGCAGCACTTCGTCGGGCAGCACGGGGTTGGCCAGGTGGGCGTCCGTCTCCCGGGCGGCGCTGGCCTCCCGCAGCCCCTCCACCAGACGCCGGTACTCGGTCCCGCAGGCGCTGCTCGTCTGTCTCTTTGATCCTGCGGAGAGATGAGCTGGGGCTGGGAGGGGGCTGGCAACCCTGGGGACAAGTCAGACAGGGGCCAGGGTCCCAGGGGCAGGGCGGGCACCACCGCCAGACGTCCCCGGCCCCACCTGAGCACCGTCTTCTGCAGGGTCTCCAGGTTGCCCTGGCACCGGTCAAGGGTCCGGCGGGTGAGGTTGACGCTCATGGAGTCGATGCAGACGTTGTCTGGAGAAGGGGGAGAGAGCCGGCTCAGGCAGGCCTGCAGGGGCCTCACTCAGAGGGGCTGGCATCCCTTTGGCCCCTGGCGCCCCCCTCACCAATGTTGTGGGCCTCGTCGAAGACCACGACGGCCTTGCGGGCCAGTTCCTTGGACACCAGGTCTGCAATCTTGGGGTCCAGGAGGTAGTGGTAGCTATAAACCACCACATTGGCATGCAGGATCTGGGGGGCCGGGGAGCAGGGTTACCAGGGCCCTGCCACCCCAACCCCTACCCCTACCCCTGGCCACACTGGCCCGTCACTCCCACACAGGCCTGCACAGGCAGACACAGGCCAGGCAGAAGTATGAGCAGATGGATAGAGACAGACCAACAGATACGGGCACCCACCAACAGGGAGATGCAGACAGGCAGACTCACAGCAAGCAACAGACAGACATGGGCAGACAGGAGACGGGCGGGCAGCCCACACCCTCACACTCGCCCCTCTGCCCATCCCACCAGCCTCCTCACTGAGTATCGAGCAAGGAAGTATGGGCACCAGCCCTGGCGCCGCCCCAGGGCCTTCAGGTCATCCAGGTTGTAGATGCCAGCGGGGAGGGGCACCTCACGCCCATGGGCATCAAATTCCTGGGACAAGAGTGCCAGGGGTCAGGGAGGCTGCCTGCCCCAGGCTACCTGTCCTGCCTCCCTCCCTCAGCCCTGCCCTCCAGTAACCTCATAGAATCGGCAGTGGGGCAGGCTGGTGTCATGCTGGTACTGCGCCCGCACATAGGAGGCTGTGAGGCTGTGGCATTTCCCATCGACGTCCTTCCCAAAGCGCAGGGGTGTCACCTGGGGGTGTGGGGCATCTTAGCACCCAGACAGGGTGGAAACCCAACCACTCTTCAAACCCTGGTCTCCACACCTCCCAGCTGGCTGGGGTTTTGGACAACTTGAACCTCAGTCTGTTGCATTATTAGTTAAGACGCGTGGGAACTTAATGCAGGGATACAAGAGTAGTAAAATTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGTGAGGCTGAGGTGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGTATCCGGGAGGTGGAGGTTGCAGTGAGCAGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGTGAGACACCATCTCAAAAAAATAAGTAAAAATAAAAATACAAAAATGAGCCAGGTGTGGTGGTGCACACCTGGAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGTACTCCACCCTGGGCCACGGAGCCAGACTCCCTCTCAAAAAAAAAAAGAGTAGCAAAATTGTTACATTCTTACAACTACAAGTTATACATACATATTTTTGGAGACAAGTCCCTCTGCTACTCAGGCTGGAATGCAGTGGCCCAATCACGGCTCACTACATCCTTGACCTCCCAGGCTCAAGTGATCCTTCCCCCACTCAGCCTCCCGAGTAGCTGCGGCCACAGGTGTGCACCACCATGCCCGGCTAATTTTTGTCTTCTTAGTTGAGATGAGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGTCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTGAGCCACTGCGCCC
|
pathogenic
| 306,427 |
The genetic variant at chromosome 19, position 45364832, affecting gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum', 'Xeroderma_pigmentosum,_group_D']
|
GGAAGGTGGCCTCACCCACAGAGGCAGGGCAGCCAGGGCCTTTGGAGCCCACAGGCATGGCTTCAAGCCCCAACTACCGGGCACAGTGCTGTGTGGCTCTGGGCAAAGGCTTCCCCTCTGGGAGTCCCAGTGTCCTCATTTGCAGGGTGGGGATGCTGTACTGGGGGTGCAACTGAGGTAAGGAACATAAAGGGCTTAGCTCCTCCTTAGTGCTCAGGGCAGGGTAGGTGATTGGCTTCGCTGCTCTCTCATTAACCCACCAAAGAACCCTGTGAAGTAAAGACCCGACTCCTTGGCCATTTTACAAAGGAGGAAACTGCAGTTCAAAGAAGACCCATGACTTACCCAAAGGAAAAGCCCCCTCGTATCCCTTGGTCATTCTCTGCCTGCCCTGTGCCTCAAGAGACTGACTCCCCCAAAATGCGCCCAGACTACTCCATGGGGACGCCCCTGCCCTCAGGTTTGGAAGATTAGAGGCATCGGTGGGAAGATACATGGGCCGGGGACACCTCCTCCAGCTCCCAGCCTGCGAGGCCCTGGTACTGGTTTCTGCTCCCAGCAGAAGCCCCTGTCCAGGCCCCCACCAGTTGGTTCTCAACACACTCCCTCCCTGCCGCTGTGGCCTGGCTTAGCTCCCAGCTCTCACCTCCCACCCTCCTTGGCTCCTCCCCCAGCCCGCCCCTCTGTAAATGGTGCTCCCACTCTCTCTTGGGTGGGGGAGATTCTCCAATCCAGCCAGGTGTTGCCTGCCAGGCCCCTGCCCGACGCACGGACCCAGGATCAGCTCCAACCTTGCTCCCGGACCTCCCAGGTCAGACCAGACAAGGTCCCACGTGCCTCGCCCAGCTCACTCACTCCTGATGCTGCAGTGGTGACCTGGGGCTACAGGCGTGGAGGACACGGCTCTGCATAACCGGGACCTGCCGGGCCCCCACCCCGCGCGCTGTCTGGGGCCGCACCTGAGGGGCTTGCGCTGGATGCACACGCGCTGGGCCAGGCCGCTCAGGAAGGCGGGCGGGCTCTCCTGCACCACATGCTGCACACGCAGCCGCCACTTCACGTACTCCAGCAGCCGCCTCAGGAAGCCCAGGAAATGCTCGGCCGTGCGGATGGAGCCAGGCACTGCCTCTGCGAGGAGACGCTATCAGCGGCGACGGGGAGGCGGGAAAGGGACTGGGGGGCAGCGGGGGGTCGGGGCTCACCCTGCAGCACTTCGTCGGGCAGCACGGGGTTGGCCAGGTGGGCGTCCGTCTCCCGGGCGGCGCTGGCCTCCCGCAGCCCCTCCACCAGACGCCGGTACTCGTCCCGCAGGCGCTGCTCGTCTGTCTCTTTGATCCTGCGGAGAGATGAGCTGGGGCTGGGAGGGGGCTGGCAACCCTGGGGACAAGTCAGACAGGGGCCAGGGTCCCAGGGGCAGGGCGGGCACCACCGCCAGACGTCCCCGGCCCCACCTGAGCACCGTCTTCTGCAGGGTCTCCAGGTTGCCCTGGCACCGGTCAAGGGTCCGGCGGGTGAGGTTGACGCTCATGGAGTCGATGCAGACGTTGTCTGGAGAAGGGGGAGAGAGCCGGCTCAGGCAGGCCTGCAGGGGCCTCACTCAGAGGGGCTGGCATCCCTTTGGCCCCTGGCGCCCCCCTCACCAATGTTGTGGGCCTCGTCGAAGACCACGACGGCCTTGCGGGCCAGTTCCTTGGACACCAGGTCTGCAATCTTGGGGTCCAGGAGGTAGTGGTAGCTATAAACCACCACATTGGCATGCAGGATCTGGGGGGCCGGGGAGCAGGGTTACCAGGGCCCTGCCACCCCAACCCCTACCCCTACCCCTGGCCACACTGGCCCGTCACTCCCACACAGGCCTGCACAGGCAGACACAGGCCAGGCAGAAGTATGAGCAGATGGATAGAGACAGACCAACAGATACGGGCACCCACCAACAGGGAGATGCAGACAGGCAGACTCACAGCAAGCAACAGACAGACATGGGCAGACAGGAGACGGGCGGGCAGCCCACACCCTCACACTCGCCCCTCTGCCCATCCCACCAGCCTCCTCACTGAGTATCGAGCAAGGAAGTATGGGCACCAGCCCTGGCGCCGCCCCAGGGCCTTCAGGTCATCCAGGTTGTAGATGCCAGCGGGGAGGGGCACCTCACGCCCATGGGCATCAAATTCCTGGGACAAGAGTGCCAGGGGTCAGGGAGGCTGCCTGCCCCAGGCTACCTGTCCTGCCTCCCTCCCTCAGCCCTGCCCTCCAGTAACCTCATAGAATCGGCAGTGGGGCAGGCTGGTGTCATGCTGGTACTGCGCCCGCACATAGGAGGCTGTGAGGCTGTGGCATTTCCCATCGACGTCCTTCCCAAAGCGCAGGGGTGTCACCTGGGGGTGTGGGGCATCTTAGCACCCAGACAGGGTGGAAACCCAACCACTCTTCAAACCCTGGTCTCCACACCTCCCAGCTGGCTGGGGTTTTGGACAACTTGAACCTCAGTCTGTTGCATTATTAGTTAAGACGCGTGGGAACTTAATGCAGGGATACAAGAGTAGTAAAATTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGTGAGGCTGAGGTGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGTATCCGGGAGGTGGAGGTTGCAGTGAGCAGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGTGAGACACCATCTCAAAAAAATAAGTAAAAATAAAAATACAAAAATGAGCCAGGTGTGGTGGTGCACACCTGGAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGTACTCCACCCTGGGCCACGGAGCCAGACTCCCTCTCAAAAAAAAAAAGAGTAGCAAAATTGTTACATTCTTACAACTACAAGTTATACATACATATTTTTGGAGACAAGTCCCTCTGCTACTCAGGCTGGAATGCAGTGGCCCAATCACGGCTCACTACATCCTTGACCTCCCAGGCTCAAGTGATCCTTCCCCCACTCAGCCTCCCGAGTAGCTGCGGCCACAGGTGTGCACCACCATGCCCGGCTAATTTTTGTCTTCTTAGTTGAGATGAGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGTCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTGAGCCACTGCGCCCAGCCAGCCAAAACTAATATTTTATTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCACAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGTGCCACCACACCCGGCTAATTTTGTCTTTTTAGTAGAGACAGGGTTTCTCCATGTTGATCAAGCTGGTCTCGAACTCCTGATCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGTGCCCAGCCCAAAACTAATATTTTAAAACAATAAGCCTGAAAAATCTTTAGCATATAGGTTGAAGATAACTACTTCATCCTTGGAAATGCCAAAACGCATGGAACCTTGGCAGGGCCTAAGAATCAAAGGAGGTTCCACACAGTCTGGGACTCCCCTTACCCCTGACCTGCTCTGTACCCTCTAAGGCACCATCACAGCCTAAGGCTTTTTCTGAAGAACAAATCCTTTTCCTACGCCAAAAGGAAAGCTCCAAGGCAGCCAGCCCTTCCTTCTCCATTTCCCCTTTCATCAGTCACCGAGGCCTGTGCTCTTTGTCATCCACTAGATGTATTATTTCTCACATATTCTTACAAATAATGTGATATAATATATAGTCTGTGGGCCCAGTGTGGGAGTTTGAGACCAGCCCGGCCAACATGATGAAACCCCATCTCTACTAAAAATAC
|
GGAAGGTGGCCTCACCCACAGAGGCAGGGCAGCCAGGGCCTTTGGAGCCCACAGGCATGGCTTCAAGCCCCAACTACCGGGCACAGTGCTGTGTGGCTCTGGGCAAAGGCTTCCCCTCTGGGAGTCCCAGTGTCCTCATTTGCAGGGTGGGGATGCTGTACTGGGGGTGCAACTGAGGTAAGGAACATAAAGGGCTTAGCTCCTCCTTAGTGCTCAGGGCAGGGTAGGTGATTGGCTTCGCTGCTCTCTCATTAACCCACCAAAGAACCCTGTGAAGTAAAGACCCGACTCCTTGGCCATTTTACAAAGGAGGAAACTGCAGTTCAAAGAAGACCCATGACTTACCCAAAGGAAAAGCCCCCTCGTATCCCTTGGTCATTCTCTGCCTGCCCTGTGCCTCAAGAGACTGACTCCCCCAAAATGCGCCCAGACTACTCCATGGGGACGCCCCTGCCCTCAGGTTTGGAAGATTAGAGGCATCGGTGGGAAGATACATGGGCCGGGGACACCTCCTCCAGCTCCCAGCCTGCGAGGCCCTGGTACTGGTTTCTGCTCCCAGCAGAAGCCCCTGTCCAGGCCCCCACCAGTTGGTTCTCAACACACTCCCTCCCTGCCGCTGTGGCCTGGCTTAGCTCCCAGCTCTCACCTCCCACCCTCCTTGGCTCCTCCCCCAGCCCGCCCCTCTGTAAATGGTGCTCCCACTCTCTCTTGGGTGGGGGAGATTCTCCAATCCAGCCAGGTGTTGCCTGCCAGGCCCCTGCCCGACGCACGGACCCAGGATCAGCTCCAACCTTGCTCCCGGACCTCCCAGGTCAGACCAGACAAGGTCCCACGTGCCTCGCCCAGCTCACTCACTCCTGATGCTGCAGTGGTGACCTGGGGCTACAGGCGTGGAGGACACGGCTCTGCATAACCGGGACCTGCCGGGCCCCCACCCCGCGCGCTGTCTGGGGCCGCACCTGAGGGGCTTGCGCTGGATGCACACGCGCTGGGCCAGGCCGCTCAGGAAGGCGGGCGGGCTCTCCTGCACCACATGCTGCACACGCAGCCGCCACTTCACGTACTCCAGCAGCCGCCTCAGGAAGCCCAGGAAATGCTCGGCCGTGCGGATGGAGCCAGGCACTGCCTCTGCGAGGAGACGCTATCAGCGGCGACGGGGAGGCGGGAAAGGGACTGGGGGGCAGCGGGGGGTCGGGGCTCACCCTGCAGCACTTCGTCGGGCAGCACGGGGTTGGCCAGGTGGGCGTCCGTCTCCCGGGCGGCGCTGGCCTCCCGCAGCCCCTCCACCAGACGCCGGTACTCGTCCCGCAGGCGCTGCTCGTCTGTCTCTTTGATCCTGCGGAGAGATGAGCTGGGGCTGGGAGGGGGCTGGCAACCCTGGGGACAAGTCAGACAGGGGCCAGGGTCCCAGGGGCAGGGCGGGCACCACCGCCAGACGTCCCCGGCCCCACCTGAGCACCGTCTTCTGCAGGGTCTCCAGGTTGCCCTGGCACCGGTCAAGGGTCCGGCGGGTGAGGTTGACGCTCATGGAGTCGATGCAGACGTTGTCTGGAGAAGGGGGAGAGAGCCGGCTCAGGCAGGCCTGCAGGGGCCTCACTCAGAGGGGCTGGCATCCCTTTGGCCCCTGGCGCCCCCCTCACCAATGTTGTGGGCCTCGTCGAAGACCACGACGGCCTTGCGGGCCAGTTCCTTGGACACCAGGTCTGCAATCTTGGGGTCCAGGAGGTAGTGGTAGCTATAAACCACCACATTGGCATGCAGGATCTGGGGGGCCGGGGAGCAGGGTTACCAGGGCCCTGCCACCCCAACCCCTACCCCTACCCCTGGCCACACTGGCCCGTCACTCCCACACAGGCCTGCACAGGCAGACACAGGCCAGGCAGAAGTATGAGCAGATGGATAGAGACAGACCAACAGATACGGGCACCCACCAACAGGGAGATGCAGACAGGCAGACTCACAGCAAGCAACAGACAGACATGGGCAGACAGGAGACGGGCGGGCAGCCCACACCCTCACACTCGCCCCTCTGCCCATCCCACCAGCCTCCTGAGTATCGAGCAAGGAAGTATGGGCACCAGCCCTGGCGCCGCCCCAGGGCCTTCAGGTCATCCAGGTTGTAGATGCCAGCGGGGAGGGGCACCTCACGCCCATGGGCATCAAATTCCTGGGACAAGAGTGCCAGGGGTCAGGGAGGCTGCCTGCCCCAGGCTACCTGTCCTGCCTCCCTCCCTCAGCCCTGCCCTCCAGTAACCTCATAGAATCGGCAGTGGGGCAGGCTGGTGTCATGCTGGTACTGCGCCCGCACATAGGAGGCTGTGAGGCTGTGGCATTTCCCATCGACGTCCTTCCCAAAGCGCAGGGGTGTCACCTGGGGGTGTGGGGCATCTTAGCACCCAGACAGGGTGGAAACCCAACCACTCTTCAAACCCTGGTCTCCACACCTCCCAGCTGGCTGGGGTTTTGGACAACTTGAACCTCAGTCTGTTGCATTATTAGTTAAGACGCGTGGGAACTTAATGCAGGGATACAAGAGTAGTAAAATTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGTGAGGCTGAGGTGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGTATCCGGGAGGTGGAGGTTGCAGTGAGCAGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGTGAGACACCATCTCAAAAAAATAAGTAAAAATAAAAATACAAAAATGAGCCAGGTGTGGTGGTGCACACCTGGAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGTACTCCACCCTGGGCCACGGAGCCAGACTCCCTCTCAAAAAAAAAAAGAGTAGCAAAATTGTTACATTCTTACAACTACAAGTTATACATACATATTTTTGGAGACAAGTCCCTCTGCTACTCAGGCTGGAATGCAGTGGCCCAATCACGGCTCACTACATCCTTGACCTCCCAGGCTCAAGTGATCCTTCCCCCACTCAGCCTCCCGAGTAGCTGCGGCCACAGGTGTGCACCACCATGCCCGGCTAATTTTTGTCTTCTTAGTTGAGATGAGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGTCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTGAGCCACTGCGCCCAGCCAGCCAAAACTAATATTTTATTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCACAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGTGCCACCACACCCGGCTAATTTTGTCTTTTTAGTAGAGACAGGGTTTCTCCATGTTGATCAAGCTGGTCTCGAACTCCTGATCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGTGCCCAGCCCAAAACTAATATTTTAAAACAATAAGCCTGAAAAATCTTTAGCATATAGGTTGAAGATAACTACTTCATCCTTGGAAATGCCAAAACGCATGGAACCTTGGCAGGGCCTAAGAATCAAAGGAGGTTCCACACAGTCTGGGACTCCCCTTACCCCTGACCTGCTCTGTACCCTCTAAGGCACCATCACAGCCTAAGGCTTTTTCTGAAGAACAAATCCTTTTCCTACGCCAAAAGGAAAGCTCCAAGGCAGCCAGCCCTTCCTTCTCCATTTCCCCTTTCATCAGTCACCGAGGCCTGTGCTCTTTGTCATCCACTAGATGTATTATTTCTCACATATTCTTACAAATAATGTGATATAATATATAGTCTGTGGGCCCAGTGTGGGAGTTTGAGACCAGCCCGGCCAACATGATGAAACCCCATCTCTACTAAAAATACNNNN
|
pathogenic
| 306,460 |
Mutation found at chromosome 19 position 45364837, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Xeroderma_pigmentosum,_group_D']
|
GTGGCCTCACCCACAGAGGCAGGGCAGCCAGGGCCTTTGGAGCCCACAGGCATGGCTTCAAGCCCCAACTACCGGGCACAGTGCTGTGTGGCTCTGGGCAAAGGCTTCCCCTCTGGGAGTCCCAGTGTCCTCATTTGCAGGGTGGGGATGCTGTACTGGGGGTGCAACTGAGGTAAGGAACATAAAGGGCTTAGCTCCTCCTTAGTGCTCAGGGCAGGGTAGGTGATTGGCTTCGCTGCTCTCTCATTAACCCACCAAAGAACCCTGTGAAGTAAAGACCCGACTCCTTGGCCATTTTACAAAGGAGGAAACTGCAGTTCAAAGAAGACCCATGACTTACCCAAAGGAAAAGCCCCCTCGTATCCCTTGGTCATTCTCTGCCTGCCCTGTGCCTCAAGAGACTGACTCCCCCAAAATGCGCCCAGACTACTCCATGGGGACGCCCCTGCCCTCAGGTTTGGAAGATTAGAGGCATCGGTGGGAAGATACATGGGCCGGGGACACCTCCTCCAGCTCCCAGCCTGCGAGGCCCTGGTACTGGTTTCTGCTCCCAGCAGAAGCCCCTGTCCAGGCCCCCACCAGTTGGTTCTCAACACACTCCCTCCCTGCCGCTGTGGCCTGGCTTAGCTCCCAGCTCTCACCTCCCACCCTCCTTGGCTCCTCCCCCAGCCCGCCCCTCTGTAAATGGTGCTCCCACTCTCTCTTGGGTGGGGGAGATTCTCCAATCCAGCCAGGTGTTGCCTGCCAGGCCCCTGCCCGACGCACGGACCCAGGATCAGCTCCAACCTTGCTCCCGGACCTCCCAGGTCAGACCAGACAAGGTCCCACGTGCCTCGCCCAGCTCACTCACTCCTGATGCTGCAGTGGTGACCTGGGGCTACAGGCGTGGAGGACACGGCTCTGCATAACCGGGACCTGCCGGGCCCCCACCCCGCGCGCTGTCTGGGGCCGCACCTGAGGGGCTTGCGCTGGATGCACACGCGCTGGGCCAGGCCGCTCAGGAAGGCGGGCGGGCTCTCCTGCACCACATGCTGCACACGCAGCCGCCACTTCACGTACTCCAGCAGCCGCCTCAGGAAGCCCAGGAAATGCTCGGCCGTGCGGATGGAGCCAGGCACTGCCTCTGCGAGGAGACGCTATCAGCGGCGACGGGGAGGCGGGAAAGGGACTGGGGGGCAGCGGGGGGTCGGGGCTCACCCTGCAGCACTTCGTCGGGCAGCACGGGGTTGGCCAGGTGGGCGTCCGTCTCCCGGGCGGCGCTGGCCTCCCGCAGCCCCTCCACCAGACGCCGGTACTCGTCCCGCAGGCGCTGCTCGTCTGTCTCTTTGATCCTGCGGAGAGATGAGCTGGGGCTGGGAGGGGGCTGGCAACCCTGGGGACAAGTCAGACAGGGGCCAGGGTCCCAGGGGCAGGGCGGGCACCACCGCCAGACGTCCCCGGCCCCACCTGAGCACCGTCTTCTGCAGGGTCTCCAGGTTGCCCTGGCACCGGTCAAGGGTCCGGCGGGTGAGGTTGACGCTCATGGAGTCGATGCAGACGTTGTCTGGAGAAGGGGGAGAGAGCCGGCTCAGGCAGGCCTGCAGGGGCCTCACTCAGAGGGGCTGGCATCCCTTTGGCCCCTGGCGCCCCCCTCACCAATGTTGTGGGCCTCGTCGAAGACCACGACGGCCTTGCGGGCCAGTTCCTTGGACACCAGGTCTGCAATCTTGGGGTCCAGGAGGTAGTGGTAGCTATAAACCACCACATTGGCATGCAGGATCTGGGGGGCCGGGGAGCAGGGTTACCAGGGCCCTGCCACCCCAACCCCTACCCCTACCCCTGGCCACACTGGCCCGTCACTCCCACACAGGCCTGCACAGGCAGACACAGGCCAGGCAGAAGTATGAGCAGATGGATAGAGACAGACCAACAGATACGGGCACCCACCAACAGGGAGATGCAGACAGGCAGACTCACAGCAAGCAACAGACAGACATGGGCAGACAGGAGACGGGCGGGCAGCCCACACCCTCACACTCGCCCCTCTGCCCATCCCACCAGCCTCCTCACTGAGTATCGAGCAAGGAAGTATGGGCACCAGCCCTGGCGCCGCCCCAGGGCCTTCAGGTCATCCAGGTTGTAGATGCCAGCGGGGAGGGGCACCTCACGCCCATGGGCATCAAATTCCTGGGACAAGAGTGCCAGGGGTCAGGGAGGCTGCCTGCCCCAGGCTACCTGTCCTGCCTCCCTCCCTCAGCCCTGCCCTCCAGTAACCTCATAGAATCGGCAGTGGGGCAGGCTGGTGTCATGCTGGTACTGCGCCCGCACATAGGAGGCTGTGAGGCTGTGGCATTTCCCATCGACGTCCTTCCCAAAGCGCAGGGGTGTCACCTGGGGGTGTGGGGCATCTTAGCACCCAGACAGGGTGGAAACCCAACCACTCTTCAAACCCTGGTCTCCACACCTCCCAGCTGGCTGGGGTTTTGGACAACTTGAACCTCAGTCTGTTGCATTATTAGTTAAGACGCGTGGGAACTTAATGCAGGGATACAAGAGTAGTAAAATTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGTGAGGCTGAGGTGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGTATCCGGGAGGTGGAGGTTGCAGTGAGCAGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGTGAGACACCATCTCAAAAAAATAAGTAAAAATAAAAATACAAAAATGAGCCAGGTGTGGTGGTGCACACCTGGAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGTACTCCACCCTGGGCCACGGAGCCAGACTCCCTCTCAAAAAAAAAAAGAGTAGCAAAATTGTTACATTCTTACAACTACAAGTTATACATACATATTTTTGGAGACAAGTCCCTCTGCTACTCAGGCTGGAATGCAGTGGCCCAATCACGGCTCACTACATCCTTGACCTCCCAGGCTCAAGTGATCCTTCCCCCACTCAGCCTCCCGAGTAGCTGCGGCCACAGGTGTGCACCACCATGCCCGGCTAATTTTTGTCTTCTTAGTTGAGATGAGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGTCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTGAGCCACTGCGCCCAGCCAGCCAAAACTAATATTTTATTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCACAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGTGCCACCACACCCGGCTAATTTTGTCTTTTTAGTAGAGACAGGGTTTCTCCATGTTGATCAAGCTGGTCTCGAACTCCTGATCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGTGCCCAGCCCAAAACTAATATTTTAAAACAATAAGCCTGAAAAATCTTTAGCATATAGGTTGAAGATAACTACTTCATCCTTGGAAATGCCAAAACGCATGGAACCTTGGCAGGGCCTAAGAATCAAAGGAGGTTCCACACAGTCTGGGACTCCCCTTACCCCTGACCTGCTCTGTACCCTCTAAGGCACCATCACAGCCTAAGGCTTTTTCTGAAGAACAAATCCTTTTCCTACGCCAAAAGGAAAGCTCCAAGGCAGCCAGCCCTTCCTTCTCCATTTCCCCTTTCATCAGTCACCGAGGCCTGTGCTCTTTGTCATCCACTAGATGTATTATTTCTCACATATTCTTACAAATAATGTGATATAATATATAGTCTGTGGGCCCAGTGTGGGAGTTTGAGACCAGCCCGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAA
|
GTGGCCTCACCCACAGAGGCAGGGCAGCCAGGGCCTTTGGAGCCCACAGGCATGGCTTCAAGCCCCAACTACCGGGCACAGTGCTGTGTGGCTCTGGGCAAAGGCTTCCCCTCTGGGAGTCCCAGTGTCCTCATTTGCAGGGTGGGGATGCTGTACTGGGGGTGCAACTGAGGTAAGGAACATAAAGGGCTTAGCTCCTCCTTAGTGCTCAGGGCAGGGTAGGTGATTGGCTTCGCTGCTCTCTCATTAACCCACCAAAGAACCCTGTGAAGTAAAGACCCGACTCCTTGGCCATTTTACAAAGGAGGAAACTGCAGTTCAAAGAAGACCCATGACTTACCCAAAGGAAAAGCCCCCTCGTATCCCTTGGTCATTCTCTGCCTGCCCTGTGCCTCAAGAGACTGACTCCCCCAAAATGCGCCCAGACTACTCCATGGGGACGCCCCTGCCCTCAGGTTTGGAAGATTAGAGGCATCGGTGGGAAGATACATGGGCCGGGGACACCTCCTCCAGCTCCCAGCCTGCGAGGCCCTGGTACTGGTTTCTGCTCCCAGCAGAAGCCCCTGTCCAGGCCCCCACCAGTTGGTTCTCAACACACTCCCTCCCTGCCGCTGTGGCCTGGCTTAGCTCCCAGCTCTCACCTCCCACCCTCCTTGGCTCCTCCCCCAGCCCGCCCCTCTGTAAATGGTGCTCCCACTCTCTCTTGGGTGGGGGAGATTCTCCAATCCAGCCAGGTGTTGCCTGCCAGGCCCCTGCCCGACGCACGGACCCAGGATCAGCTCCAACCTTGCTCCCGGACCTCCCAGGTCAGACCAGACAAGGTCCCACGTGCCTCGCCCAGCTCACTCACTCCTGATGCTGCAGTGGTGACCTGGGGCTACAGGCGTGGAGGACACGGCTCTGCATAACCGGGACCTGCCGGGCCCCCACCCCGCGCGCTGTCTGGGGCCGCACCTGAGGGGCTTGCGCTGGATGCACACGCGCTGGGCCAGGCCGCTCAGGAAGGCGGGCGGGCTCTCCTGCACCACATGCTGCACACGCAGCCGCCACTTCACGTACTCCAGCAGCCGCCTCAGGAAGCCCAGGAAATGCTCGGCCGTGCGGATGGAGCCAGGCACTGCCTCTGCGAGGAGACGCTATCAGCGGCGACGGGGAGGCGGGAAAGGGACTGGGGGGCAGCGGGGGGTCGGGGCTCACCCTGCAGCACTTCGTCGGGCAGCACGGGGTTGGCCAGGTGGGCGTCCGTCTCCCGGGCGGCGCTGGCCTCCCGCAGCCCCTCCACCAGACGCCGGTACTCGTCCCGCAGGCGCTGCTCGTCTGTCTCTTTGATCCTGCGGAGAGATGAGCTGGGGCTGGGAGGGGGCTGGCAACCCTGGGGACAAGTCAGACAGGGGCCAGGGTCCCAGGGGCAGGGCGGGCACCACCGCCAGACGTCCCCGGCCCCACCTGAGCACCGTCTTCTGCAGGGTCTCCAGGTTGCCCTGGCACCGGTCAAGGGTCCGGCGGGTGAGGTTGACGCTCATGGAGTCGATGCAGACGTTGTCTGGAGAAGGGGGAGAGAGCCGGCTCAGGCAGGCCTGCAGGGGCCTCACTCAGAGGGGCTGGCATCCCTTTGGCCCCTGGCGCCCCCCTCACCAATGTTGTGGGCCTCGTCGAAGACCACGACGGCCTTGCGGGCCAGTTCCTTGGACACCAGGTCTGCAATCTTGGGGTCCAGGAGGTAGTGGTAGCTATAAACCACCACATTGGCATGCAGGATCTGGGGGGCCGGGGAGCAGGGTTACCAGGGCCCTGCCACCCCAACCCCTACCCCTACCCCTGGCCACACTGGCCCGTCACTCCCACACAGGCCTGCACAGGCAGACACAGGCCAGGCAGAAGTATGAGCAGATGGATAGAGACAGACCAACAGATACGGGCACCCACCAACAGGGAGATGCAGACAGGCAGACTCACAGCAAGCAACAGACAGACATGGGCAGACAGGAGACGGGCGGGCAGCCCACACCCTCACACTCGCCCCTCTGCCCATCCCACCAGCCTCCTCACTATCGAGCAAGGAAGTATGGGCACCAGCCCTGGCGCCGCCCCAGGGCCTTCAGGTCATCCAGGTTGTAGATGCCAGCGGGGAGGGGCACCTCACGCCCATGGGCATCAAATTCCTGGGACAAGAGTGCCAGGGGTCAGGGAGGCTGCCTGCCCCAGGCTACCTGTCCTGCCTCCCTCCCTCAGCCCTGCCCTCCAGTAACCTCATAGAATCGGCAGTGGGGCAGGCTGGTGTCATGCTGGTACTGCGCCCGCACATAGGAGGCTGTGAGGCTGTGGCATTTCCCATCGACGTCCTTCCCAAAGCGCAGGGGTGTCACCTGGGGGTGTGGGGCATCTTAGCACCCAGACAGGGTGGAAACCCAACCACTCTTCAAACCCTGGTCTCCACACCTCCCAGCTGGCTGGGGTTTTGGACAACTTGAACCTCAGTCTGTTGCATTATTAGTTAAGACGCGTGGGAACTTAATGCAGGGATACAAGAGTAGTAAAATTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGTGAGGCTGAGGTGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGTATCCGGGAGGTGGAGGTTGCAGTGAGCAGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGTGAGACACCATCTCAAAAAAATAAGTAAAAATAAAAATACAAAAATGAGCCAGGTGTGGTGGTGCACACCTGGAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGTACTCCACCCTGGGCCACGGAGCCAGACTCCCTCTCAAAAAAAAAAAGAGTAGCAAAATTGTTACATTCTTACAACTACAAGTTATACATACATATTTTTGGAGACAAGTCCCTCTGCTACTCAGGCTGGAATGCAGTGGCCCAATCACGGCTCACTACATCCTTGACCTCCCAGGCTCAAGTGATCCTTCCCCCACTCAGCCTCCCGAGTAGCTGCGGCCACAGGTGTGCACCACCATGCCCGGCTAATTTTTGTCTTCTTAGTTGAGATGAGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGTCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTGAGCCACTGCGCCCAGCCAGCCAAAACTAATATTTTATTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCACAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGTGCCACCACACCCGGCTAATTTTGTCTTTTTAGTAGAGACAGGGTTTCTCCATGTTGATCAAGCTGGTCTCGAACTCCTGATCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGTGCCCAGCCCAAAACTAATATTTTAAAACAATAAGCCTGAAAAATCTTTAGCATATAGGTTGAAGATAACTACTTCATCCTTGGAAATGCCAAAACGCATGGAACCTTGGCAGGGCCTAAGAATCAAAGGAGGTTCCACACAGTCTGGGACTCCCCTTACCCCTGACCTGCTCTGTACCCTCTAAGGCACCATCACAGCCTAAGGCTTTTTCTGAAGAACAAATCCTTTTCCTACGCCAAAAGGAAAGCTCCAAGGCAGCCAGCCCTTCCTTCTCCATTTCCCCTTTCATCAGTCACCGAGGCCTGTGCTCTTTGTCATCCACTAGATGTATTATTTCTCACATATTCTTACAAATAATGTGATATAATATATAGTCTGTGGGCCCAGTGTGGGAGTTTGAGACCAGCCCGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAANNNN
|
pathogenic
| 306,461 |
For chromosome 19, position 45368980, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum', 'Xeroderma_pigmentosum,_group_D']
|
AGCTGAGGCAGAAGAATCACTTGAACCTCGGAGGTGGAGGTTGTGGTGAACCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATTTCAAAAATAATAATAATAAATAAGGCTGGGCACGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGTAGTAAGCCAAGATCACTCCCCTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAACAAAACAAAACAAAAATATATATATATATACACACACACACACACACACACACACACACACATATAAAAACATATATACACACACATATATATGTAAGTATAATATATACACATATATACATTCTGTGGGTTACCACATGTAAAGTATTCAGAACAGTGCCTGGCACACAGTGAGTACAATTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCCCCTCGGGAGTTCGAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCCAGCTAATTTTTCAATTTTTTTTCAGTAGAGACGGGGTTTCTCCATATTGGCCAGGCTGGTCTCAAACTCCCGACCTCAGGTGTCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGTCGTGAGTCACCATGCCCAGCCAAGTACAATGATTTTATAGCATAATTTAATGATAACTAATATTGTATTTGTCATATATCATTATGCATATAAATATCATGACAATTTCTTTTTTTTTTTTTTTAAGACAGAGTCTCACTCTGTCACCCAGGCTGGAATGCAGTGGCATGACCTCAGCTCACTGCAACCTCTGCCTCCTGGGTACAAGCGATTGGCATTACCGACGTGTACACCACCACCCCCGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCGCCGTGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAAATGATCTGCCCACCTCAGACTCCCAAAGTGCTGGGACTACAAGCGTGAACCACTGCACCTGGCCTATCATGAGAATTTCTAACATTCTTTTAGCTCTTTGTACATGCTAAGGGCATCGGCTGCAACATTTCACCCAATTTTATCATCAGCAACCTTATGAAGCAGGTACATAATTATCCCCATTTTACAGAAAGGAAGACTGAGGCCCAGGTGGCAGAAAATGCCTCTCCATAAATACTGGGCTAGTAAGTTTCAGAGCCAGGAAACCAGGCTTGCCAGAGACTCTAAGAGCTGCCTTTTTAACCTCTCCTAGGCCTGGGTAGAATTTGAAGACTCCCTGGAGGAAGTGTGCTTGCCTGGGCCACGATGAATGAGAATTTGACCACTGAGACGGGAATTCTGTGTGTAGCCACTGCATGCCTTTGCAAGAGATATGGCCTGGGGATCCAGGACTTGTGGTTGGACGAAAGAGTTTTCTCTACCTCTGGGCTAAGGGCAAGGAGAAGGAACAGGTGCTCACCTCAGGGTGAATACACAAGTTTTTGCGGGAGCTCAGAGCCAGTCCCAGAAACGGCAGCTTCTCGCCCTCCTGCTTCTCATAGAAGTTGAGCAACTTTCGAAGCTCTTCAATCACCTACTCCAAAGTTGGGGGGCAGGGGGAGCTTGTGCTCATTGGAGGCACAAACCCCTGCCCTGCCAGGTCCCAGTCTCTTCCCCAGCTTCCCAAACACCCCCGAAAGCTGGTGACGGCCACCGCCAGGGGGACCAATAGGGCCTAGGGAACAGTGGGGCTGGAGCACCAGGATGAGTCCCAGCTTACCTTCTCAATCTCTGGCACAGTTCTTGAGCAGTAGATGAGTTTGGTCACCTCCAGCGGATATGCCTGCCGATAACAAGCGGACTCAGTCCCTGTCCCGCCCCTTCCTTTGTCTGCCTTTACGGGTTCAGCGCATCACTCACTCTCTGGTATGCCATGATCAGGGCCAACAGGGATACTGTCTTCCCGGTGCCTGAGGGCATCTCCAGGACTCCATGACCCTGCATGTTGGGGACCAGAGGGGCAACACACAGGGTCTCAGAACCTTGGGCACACAAACTCTGGGGACTCTCCCCGACCCCCAATGCCACCAACTCAGAACAGCAGGATAACACAGCAGCAGTTAAGATTGGGCAGTGGGTTTGAACCTCACTTCTGCCTCCTCCTTGTTGAGTGGTCTTAGGCAAGTACCTTCACCTCCCCAGACCTCAGTATCCCTATCTCTAAAATGAGCCTAAAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGAACCACCTGAGGTCAGAAGTTCAAGACCAGCTGGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGATGTGGTGGCGCGCACCTGTAATTCAATCTCAAAAATAAATAAATAAAATAAAATGGGCCTAATAATAAAACCTTCCTCATAACATGACTATGAGGATTGTGAGAAATTGCAGGTTAAATATTTGGCACAGTAGCTGATATATAGTGAACTTTTCTCCCTTCTTTTTTAAGAGACAAGTGTCACTATTGCCCAGGCTGGAATGCAGTGGCACAATCATGGCTCACTGCAGCCTCCAACTCCTGGCCTCAAGCGATCCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGTCCTCCCAAAGCTCTGGGATTACAGGCGCGAGCCACCGCGCCCAGCCTATTCACCATTATTGTTTTAGATAACGGAAGATTATGGGGTCCTGGATTCCCAGGGACCTCGGACTTCTAAAATCCAGACGTCCTGCAATCTGTCTTAGGCCCAGGCGTGGCAGCCCCACCGGTCGAGTGGGCGGGTCGGGCCCACCGGCCACCCACCTTGGCGTCCAGCGTGCGTTTGAGCTCCCGCATGTAGGAGAACTGCTCGGGGTAGATGTAGTCGTACGGGAAGTAGACCAGGAGCCCGTCCACGTTGAGCCTGGCGGCAGGGGCTGCTGGGTCAGTTCCCGTCCCCTCAGCCCCTCTCCCGCCTCCACAGTGCCCGGTCGTCGAGCCCAGAGAAGGGTGACGGGCCCGGCGCCCCCGGTAACCCTCAGGTCCTCAGGAGCCTCGGGGCCCCCTCAGTGTCTCCTCGCTATCACTGCTGCTCCCTGCGGCTGCCCCCGTCCCACCCCTTCACCCTCCCCTCGCCCCCTTGGGGACCCAGGCGCGCCCACCGATGACCCCATCTTCAAGACCCCCCGCGCCCGCTAGCGAGCGCGACCCCCAGCCCCCTTCTCACTTCATGGCGCCGGCCGGACTGTGCAGCGGGGTCGACCCGCCTCCCTCATGAATATTCAGCGAGAGGCCGGGTCGTGGACATCCTCGAGGGCTCGCTCCACCTATATTACGAGACCATTGGCTAACCTGCCCGTCAATCCGCTAGGGCAGAGCCAATCGGGATACTGCGCGTGCGCACGGAAAAGCGAGGGCGGCTGACTCTCGGGTGAGGCGGTGCGGGAGGCGTCACTGAGGATCGTCGAGGGCCAATCAAAAAGAAAACATGGAAGGGAAAGAGCCGAGAGACTCGATCTCATTCACTAGAATTTGGTCCTCCTGCGCCTGCCAAGATTGTCTGAGTATTGATCGAACCCAGGAGTTCGAGATCAGCTTGAGCAAGATAGCGAGAACCCCCGCCCCTCCACCTCGTCTCAAAAAAAAAAAAAAATCGTCTCAGTAGCGAATAGTCTAACGGAGAATGACAGGGAAATTGGTGATCCTTTCTGGGCCCAAG
|
AGCTGAGGCAGAAGAATCACTTGAACCTCGGAGGTGGAGGTTGTGGTGAACCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATTTCAAAAATAATAATAATAAATAAGGCTGGGCACGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGTAGTAAGCCAAGATCACTCCCCTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAACAAAACAAAACAAAAATATATATATATATACACACACACACACACACACACACACACACACATATAAAAACATATATACACACACATATATATGTAAGTATAATATATACACATATATACATTCTGTGGGTTACCACATGTAAAGTATTCAGAACAGTGCCTGGCACACAGTGAGTACAATTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCCCCTCGGGAGTTCGAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCCAGCTAATTTTTCAATTTTTTTTCAGTAGAGACGGGGTTTCTCCATATTGGCCAGGCTGGTCTCAAACTCCCGACCTCAGGTGTCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGTCGTGAGTCACCATGCCCAGCCAAGTACAATGATTTTATAGCATAATTTAATGATAACTAATATTGTATTTGTCATATATCATTATGCATATAAATATCATGACAATTTCTTTTTTTTTTTTTTTAAGACAGAGTCTCACTCTGTCACCCAGGCTGGAATGCAGTGGCATGACCTCAGCTCACTGCAACCTCTGCCTCCTGGGTACAAGCGATTGGCATTACCGACGTGTACACCACCACCCCCGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCGCCGTGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAAATGATCTGCCCACCTCAGACTCCCAAAGTGCTGGGACTACAAGCGTGAACCACTGCACCTGGCCTATCATGAGAATTTCTAACATTCTTTTAGCTCTTTGTACATGCTAAGGGCATCGGCTGCAACATTTCACCCAATTTTATCATCAGCAACCTTATGAAGCAGGTACATAATTATCCCCATTTTACAGAAAGGAAGACTGAGGCCCAGGTGGCAGAAAATGCCTCTCCATAAATACTGGGCTAGTAAGTTTCAGAGCCAGGAAACCAGGCTTGCCAGAGACTCTAAGAGCTGCCTTTTTAACCTCTCCTAGGCCTGGGTAGAATTTGAAGACTCCCTGGAGGAAGTGTGCTTGCCTGGGCCACGATGAATGAGAATTTGACCACTGAGACGGGAATTCTGTGTGTAGCCACTGCATGCCTTTGCAAGAGATATGGCCTGGGGATCCAGGACTTGTGGTTGGACGAAAGAGTTTTCTCTACCTCTGGGCTAAGGGCAAGGAGAAGGAACAGGTGCTCACCTCAGGGTGAATACACAAGTTTTTGCGGGAGCTCAGAGCCAGTCCCAGAAACGGCAGCTTCTCGCCCTCCTGCTTCTCATAGAAGTTGAGCAACTTTCGAAGCTCTTCAATCACCTACTCCAAAGTTGGGGGGCAGGGGGAGCTTGTGCTCATTGGAGGCACAAACCCCTGCCCTGCCAGGTCCCAGTCTCTTCCCCAGCTTCCCAAACACCCCCGAAAGCTGGTGACGGCCACCGCCAGGGGGACCAATAGGGCCTAGGGAACAGTGGGGCTGGAGCACCAGGATGAGTCCCAGCTTACCTTCTCAATCTCTGGCACAGTTCTTGAGCAGTAGATGAGTTTGGTCACCTAAAGCGGATATGCCTGCCGATAACAAGCGGACTCAGTCCCTGTCCCGCCCCTTCCTTTGTCTGCCTTTACGGGTTCAGCGCATCACTCACTCTCTGGTATGCCATGATCAGGGCCAACAGGGATACTGTCTTCCCGGTGCCTGAGGGCATCTCCAGGACTCCATGACCCTGCATGTTGGGGACCAGAGGGGCAACACACAGGGTCTCAGAACCTTGGGCACACAAACTCTGGGGACTCTCCCCGACCCCCAATGCCACCAACTCAGAACAGCAGGATAACACAGCAGCAGTTAAGATTGGGCAGTGGGTTTGAACCTCACTTCTGCCTCCTCCTTGTTGAGTGGTCTTAGGCAAGTACCTTCACCTCCCCAGACCTCAGTATCCCTATCTCTAAAATGAGCCTAAAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGAACCACCTGAGGTCAGAAGTTCAAGACCAGCTGGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGATGTGGTGGCGCGCACCTGTAATTCAATCTCAAAAATAAATAAATAAAATAAAATGGGCCTAATAATAAAACCTTCCTCATAACATGACTATGAGGATTGTGAGAAATTGCAGGTTAAATATTTGGCACAGTAGCTGATATATAGTGAACTTTTCTCCCTTCTTTTTTAAGAGACAAGTGTCACTATTGCCCAGGCTGGAATGCAGTGGCACAATCATGGCTCACTGCAGCCTCCAACTCCTGGCCTCAAGCGATCCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGTCCTCCCAAAGCTCTGGGATTACAGGCGCGAGCCACCGCGCCCAGCCTATTCACCATTATTGTTTTAGATAACGGAAGATTATGGGGTCCTGGATTCCCAGGGACCTCGGACTTCTAAAATCCAGACGTCCTGCAATCTGTCTTAGGCCCAGGCGTGGCAGCCCCACCGGTCGAGTGGGCGGGTCGGGCCCACCGGCCACCCACCTTGGCGTCCAGCGTGCGTTTGAGCTCCCGCATGTAGGAGAACTGCTCGGGGTAGATGTAGTCGTACGGGAAGTAGACCAGGAGCCCGTCCACGTTGAGCCTGGCGGCAGGGGCTGCTGGGTCAGTTCCCGTCCCCTCAGCCCCTCTCCCGCCTCCACAGTGCCCGGTCGTCGAGCCCAGAGAAGGGTGACGGGCCCGGCGCCCCCGGTAACCCTCAGGTCCTCAGGAGCCTCGGGGCCCCCTCAGTGTCTCCTCGCTATCACTGCTGCTCCCTGCGGCTGCCCCCGTCCCACCCCTTCACCCTCCCCTCGCCCCCTTGGGGACCCAGGCGCGCCCACCGATGACCCCATCTTCAAGACCCCCCGCGCCCGCTAGCGAGCGCGACCCCCAGCCCCCTTCTCACTTCATGGCGCCGGCCGGACTGTGCAGCGGGGTCGACCCGCCTCCCTCATGAATATTCAGCGAGAGGCCGGGTCGTGGACATCCTCGAGGGCTCGCTCCACCTATATTACGAGACCATTGGCTAACCTGCCCGTCAATCCGCTAGGGCAGAGCCAATCGGGATACTGCGCGTGCGCACGGAAAAGCGAGGGCGGCTGACTCTCGGGTGAGGCGGTGCGGGAGGCGTCACTGAGGATCGTCGAGGGCCAATCAAAAAGAAAACATGGAAGGGAAAGAGCCGAGAGACTCGATCTCATTCACTAGAATTTGGTCCTCCTGCGCCTGCCAAGATTGTCTGAGTATTGATCGAACCCAGGAGTTCGAGATCAGCTTGAGCAAGATAGCGAGAACCCCCGCCCCTCCACCTCGTCTCAAAAAAAAAAAAAAATCGTCTCAGTAGCGAATAGTCTAACGGAGAATGACAGGGAAATTGGTGATCCTTTCTGGGCCCAAG
|
pathogenic
| 306,511 |
Mutation found at chromosome 19 position 45369110, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Cerebrooculofacioskeletal_syndrome_2']
|
GGCACGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGTAGTAAGCCAAGATCACTCCCCTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAACAAAACAAAACAAAAATATATATATATATACACACACACACACACACACACACACACACACATATAAAAACATATATACACACACATATATATGTAAGTATAATATATACACATATATACATTCTGTGGGTTACCACATGTAAAGTATTCAGAACAGTGCCTGGCACACAGTGAGTACAATTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCCCCTCGGGAGTTCGAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCCAGCTAATTTTTCAATTTTTTTTCAGTAGAGACGGGGTTTCTCCATATTGGCCAGGCTGGTCTCAAACTCCCGACCTCAGGTGTCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGTCGTGAGTCACCATGCCCAGCCAAGTACAATGATTTTATAGCATAATTTAATGATAACTAATATTGTATTTGTCATATATCATTATGCATATAAATATCATGACAATTTCTTTTTTTTTTTTTTTAAGACAGAGTCTCACTCTGTCACCCAGGCTGGAATGCAGTGGCATGACCTCAGCTCACTGCAACCTCTGCCTCCTGGGTACAAGCGATTGGCATTACCGACGTGTACACCACCACCCCCGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCGCCGTGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAAATGATCTGCCCACCTCAGACTCCCAAAGTGCTGGGACTACAAGCGTGAACCACTGCACCTGGCCTATCATGAGAATTTCTAACATTCTTTTAGCTCTTTGTACATGCTAAGGGCATCGGCTGCAACATTTCACCCAATTTTATCATCAGCAACCTTATGAAGCAGGTACATAATTATCCCCATTTTACAGAAAGGAAGACTGAGGCCCAGGTGGCAGAAAATGCCTCTCCATAAATACTGGGCTAGTAAGTTTCAGAGCCAGGAAACCAGGCTTGCCAGAGACTCTAAGAGCTGCCTTTTTAACCTCTCCTAGGCCTGGGTAGAATTTGAAGACTCCCTGGAGGAAGTGTGCTTGCCTGGGCCACGATGAATGAGAATTTGACCACTGAGACGGGAATTCTGTGTGTAGCCACTGCATGCCTTTGCAAGAGATATGGCCTGGGGATCCAGGACTTGTGGTTGGACGAAAGAGTTTTCTCTACCTCTGGGCTAAGGGCAAGGAGAAGGAACAGGTGCTCACCTCAGGGTGAATACACAAGTTTTTGCGGGAGCTCAGAGCCAGTCCCAGAAACGGCAGCTTCTCGCCCTCCTGCTTCTCATAGAAGTTGAGCAACTTTCGAAGCTCTTCAATCACCTACTCCAAAGTTGGGGGGCAGGGGGAGCTTGTGCTCATTGGAGGCACAAACCCCTGCCCTGCCAGGTCCCAGTCTCTTCCCCAGCTTCCCAAACACCCCCGAAAGCTGGTGACGGCCACCGCCAGGGGGACCAATAGGGCCTAGGGAACAGTGGGGCTGGAGCACCAGGATGAGTCCCAGCTTACCTTCTCAATCTCTGGCACAGTTCTTGAGCAGTAGATGAGTTTGGTCACCTCCAGCGGATATGCCTGCCGATAACAAGCGGACTCAGTCCCTGTCCCGCCCCTTCCTTTGTCTGCCTTTACGGGTTCAGCGCATCACTCACTCTCTGGTATGCCATGATCAGGGCCAACAGGGATACTGTCTTCCCGGTGCCTGAGGGCATCTCCAGGACTCCATGACCCTGCATGTTGGGGACCAGAGGGGCAACACACAGGGTCTCAGAACCTTGGGCACACAAACTCTGGGGACTCTCCCCGACCCCCAATGCCACCAACTCAGAACAGCAGGATAACACAGCAGCAGTTAAGATTGGGCAGTGGGTTTGAACCTCACTTCTGCCTCCTCCTTGTTGAGTGGTCTTAGGCAAGTACCTTCACCTCCCCAGACCTCAGTATCCCTATCTCTAAAATGAGCCTAAAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGAACCACCTGAGGTCAGAAGTTCAAGACCAGCTGGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGATGTGGTGGCGCGCACCTGTAATTCAATCTCAAAAATAAATAAATAAAATAAAATGGGCCTAATAATAAAACCTTCCTCATAACATGACTATGAGGATTGTGAGAAATTGCAGGTTAAATATTTGGCACAGTAGCTGATATATAGTGAACTTTTCTCCCTTCTTTTTTAAGAGACAAGTGTCACTATTGCCCAGGCTGGAATGCAGTGGCACAATCATGGCTCACTGCAGCCTCCAACTCCTGGCCTCAAGCGATCCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGTCCTCCCAAAGCTCTGGGATTACAGGCGCGAGCCACCGCGCCCAGCCTATTCACCATTATTGTTTTAGATAACGGAAGATTATGGGGTCCTGGATTCCCAGGGACCTCGGACTTCTAAAATCCAGACGTCCTGCAATCTGTCTTAGGCCCAGGCGTGGCAGCCCCACCGGTCGAGTGGGCGGGTCGGGCCCACCGGCCACCCACCTTGGCGTCCAGCGTGCGTTTGAGCTCCCGCATGTAGGAGAACTGCTCGGGGTAGATGTAGTCGTACGGGAAGTAGACCAGGAGCCCGTCCACGTTGAGCCTGGCGGCAGGGGCTGCTGGGTCAGTTCCCGTCCCCTCAGCCCCTCTCCCGCCTCCACAGTGCCCGGTCGTCGAGCCCAGAGAAGGGTGACGGGCCCGGCGCCCCCGGTAACCCTCAGGTCCTCAGGAGCCTCGGGGCCCCCTCAGTGTCTCCTCGCTATCACTGCTGCTCCCTGCGGCTGCCCCCGTCCCACCCCTTCACCCTCCCCTCGCCCCCTTGGGGACCCAGGCGCGCCCACCGATGACCCCATCTTCAAGACCCCCCGCGCCCGCTAGCGAGCGCGACCCCCAGCCCCCTTCTCACTTCATGGCGCCGGCCGGACTGTGCAGCGGGGTCGACCCGCCTCCCTCATGAATATTCAGCGAGAGGCCGGGTCGTGGACATCCTCGAGGGCTCGCTCCACCTATATTACGAGACCATTGGCTAACCTGCCCGTCAATCCGCTAGGGCAGAGCCAATCGGGATACTGCGCGTGCGCACGGAAAAGCGAGGGCGGCTGACTCTCGGGTGAGGCGGTGCGGGAGGCGTCACTGAGGATCGTCGAGGGCCAATCAAAAAGAAAACATGGAAGGGAAAGAGCCGAGAGACTCGATCTCATTCACTAGAATTTGGTCCTCCTGCGCCTGCCAAGATTGTCTGAGTATTGATCGAACCCAGGAGTTCGAGATCAGCTTGAGCAAGATAGCGAGAACCCCCGCCCCTCCACCTCGTCTCAAAAAAAAAAAAAAATCGTCTCAGTAGCGAATAGTCTAACGGAGAATGACAGGGAAATTGGTGATCCTTTCTGGGCCCAAGAGTTAGAAATGGCTTTGCAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAAACCT
|
GGCACGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGTAGTAAGCCAAGATCACTCCCCTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAACAAAACAAAACAAAAATATATATATATATACACACACACACACACACACACACACACACACATATAAAAACATATATACACACACATATATATGTAAGTATAATATATACACATATATACATTCTGTGGGTTACCACATGTAAAGTATTCAGAACAGTGCCTGGCACACAGTGAGTACAATTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCCCCTCGGGAGTTCGAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCCAGCTAATTTTTCAATTTTTTTTCAGTAGAGACGGGGTTTCTCCATATTGGCCAGGCTGGTCTCAAACTCCCGACCTCAGGTGTCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGTCGTGAGTCACCATGCCCAGCCAAGTACAATGATTTTATAGCATAATTTAATGATAACTAATATTGTATTTGTCATATATCATTATGCATATAAATATCATGACAATTTCTTTTTTTTTTTTTTTAAGACAGAGTCTCACTCTGTCACCCAGGCTGGAATGCAGTGGCATGACCTCAGCTCACTGCAACCTCTGCCTCCTGGGTACAAGCGATTGGCATTACCGACGTGTACACCACCACCCCCGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCGCCGTGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAAATGATCTGCCCACCTCAGACTCCCAAAGTGCTGGGACTACAAGCGTGAACCACTGCACCTGGCCTATCATGAGAATTTCTAACATTCTTTTAGCTCTTTGTACATGCTAAGGGCATCGGCTGCAACATTTCACCCAATTTTATCATCAGCAACCTTATGAAGCAGGTACATAATTATCCCCATTTTACAGAAAGGAAGACTGAGGCCCAGGTGGCAGAAAATGCCTCTCCATAAATACTGGGCTAGTAAGTTTCAGAGCCAGGAAACCAGGCTTGCCAGAGACTCTAAGAGCTGCCTTTTTAACCTCTCCTAGGCCTGGGTAGAATTTGAAGACTCCCTGGAGGAAGTGTGCTTGCCTGGGCCACGATGAATGAGAATTTGACCACTGAGACGGGAATTCTGTGTGTAGCCACTGCATGCCTTTGCAAGAGATATGGCCTGGGGATCCAGGACTTGTGGTTGGACGAAAGAGTTTTCTCTACCTCTGGGCTAAGGGCAAGGAGAAGGAACAGGTGCTCACCTCAGGGTGAATACACAAGTTTTTGCGGGAGCTCAGAGCCAGTCCCAGAAACGGCAGCTTCTCGCCCTCCTGCTTCTCATAGAAGTTGAGCAACTTTCGAAGCTCTTCAATCACCTACTCCAAAGTTGGGGGGCAGGGGGAGCTTGTGCTCATTGGAGGCACAAACCCCTGCCCTGCCAGGTCCCAGTCTCTTCCCCAGCTTCCCAAACACCCCCGAAAGCTGGTGACGGCCACCGCCAGGGGGACCAATAGGGCCTAGGGAACAGTGGGGCTGGAGCACCAGGATGAGTCCCAGCTTACCTTCTCAATCTCTGGCACAGTTCTTGAGCAGTAGATGAGTTTGGTCACCTCCAGCGGATATGCCTGCCGATAACAAGCGGACTCAGTCCCTGTCCCGCCCCTTCCTTTGTCTGCCTTTACGGGTTCAGCGCATCACTCACTCTCTGGTATGCCATGATCAGGGCCAACAGGGATACTGTCTTGTTGGGGACCAGAGGGGCAACACACAGGGTCTCAGAACCTTGGGCACACAAACTCTGGGGACTCTCCCCGACCCCCAATGCCACCAACTCAGAACAGCAGGATAACACAGCAGCAGTTAAGATTGGGCAGTGGGTTTGAACCTCACTTCTGCCTCCTCCTTGTTGAGTGGTCTTAGGCAAGTACCTTCACCTCCCCAGACCTCAGTATCCCTATCTCTAAAATGAGCCTAAAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGAACCACCTGAGGTCAGAAGTTCAAGACCAGCTGGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGATGTGGTGGCGCGCACCTGTAATTCAATCTCAAAAATAAATAAATAAAATAAAATGGGCCTAATAATAAAACCTTCCTCATAACATGACTATGAGGATTGTGAGAAATTGCAGGTTAAATATTTGGCACAGTAGCTGATATATAGTGAACTTTTCTCCCTTCTTTTTTAAGAGACAAGTGTCACTATTGCCCAGGCTGGAATGCAGTGGCACAATCATGGCTCACTGCAGCCTCCAACTCCTGGCCTCAAGCGATCCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGTCCTCCCAAAGCTCTGGGATTACAGGCGCGAGCCACCGCGCCCAGCCTATTCACCATTATTGTTTTAGATAACGGAAGATTATGGGGTCCTGGATTCCCAGGGACCTCGGACTTCTAAAATCCAGACGTCCTGCAATCTGTCTTAGGCCCAGGCGTGGCAGCCCCACCGGTCGAGTGGGCGGGTCGGGCCCACCGGCCACCCACCTTGGCGTCCAGCGTGCGTTTGAGCTCCCGCATGTAGGAGAACTGCTCGGGGTAGATGTAGTCGTACGGGAAGTAGACCAGGAGCCCGTCCACGTTGAGCCTGGCGGCAGGGGCTGCTGGGTCAGTTCCCGTCCCCTCAGCCCCTCTCCCGCCTCCACAGTGCCCGGTCGTCGAGCCCAGAGAAGGGTGACGGGCCCGGCGCCCCCGGTAACCCTCAGGTCCTCAGGAGCCTCGGGGCCCCCTCAGTGTCTCCTCGCTATCACTGCTGCTCCCTGCGGCTGCCCCCGTCCCACCCCTTCACCCTCCCCTCGCCCCCTTGGGGACCCAGGCGCGCCCACCGATGACCCCATCTTCAAGACCCCCCGCGCCCGCTAGCGAGCGCGACCCCCAGCCCCCTTCTCACTTCATGGCGCCGGCCGGACTGTGCAGCGGGGTCGACCCGCCTCCCTCATGAATATTCAGCGAGAGGCCGGGTCGTGGACATCCTCGAGGGCTCGCTCCACCTATATTACGAGACCATTGGCTAACCTGCCCGTCAATCCGCTAGGGCAGAGCCAATCGGGATACTGCGCGTGCGCACGGAAAAGCGAGGGCGGCTGACTCTCGGGTGAGGCGGTGCGGGAGGCGTCACTGAGGATCGTCGAGGGCCAATCAAAAAGAAAACATGGAAGGGAAAGAGCCGAGAGACTCGATCTCATTCACTAGAATTTGGTCCTCCTGCGCCTGCCAAGATTGTCTGAGTATTGATCGAACCCAGGAGTTCGAGATCAGCTTGAGCAAGATAGCGAGAACCCCCGCCCCTCCACCTCGTCTCAAAAAAAAAAAAAAATCGTCTCAGTAGCGAATAGTCTAACGGAGAATGACAGGGAAATTGGTGATCCTTTCTGGGCCCAAGAGTTAGAAATGGCTTTGCAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAAACCTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 306,520 |
Considering the genetic mutation at chromosome 19, position 45396384, impacting PPP1R13L (protein phosphatase 1 regulatory subunit 13 like): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Arrhythmogenic_cardiomyopathy_with_variable_ectodermal_abnormalities', 'Orofacial_cleft', 'Primary_dilated_cardiomyopathy']
|
TTTCACTATGTTGCCCAGGCTGGTCTTGAACTCCAGAGCTCAAGCAATCCTGTCTGCATTAGCCCACCAAACTGCTAGGATTACAAGGGTGAGCCACGGTGCCTGGCTAATATGGTAGCTATTGATAGCTTACTATGTATCAGATCCTATTTATTTATTTATTTTTGAGACAGAGTCTCACCCTGTCACCTGTGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCCACCTCCGCCTCCTTGGCTCAAGCTGAGTAGCTAGGACTACAGTGGTGAGCCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTGATAGAGATGGGATTTCATCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCAACTGCACCTGGCCCATCAGGTGCTGTTTTAAAGGCTTTATATGAATTTAATAACATATGTCAATAGGATCGATTCTATCATTATTTGCCTTTTTTTTTTTTTTTTTTTTTGAGGCAGAGTCTCCCCGTCACCCAGGATGGACTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCATATTGGCCAGGCTGGTCTCGAACTTCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCATTATTTCCCTTTTACACTCAAGAAAATTGAGGCCCAGTGAGGTTAAGTGACTTGCCCAAGGTCACACAGCGTGGAACCAGGCAGTCTGGCTTCAGGGTCCACACTTAACCTTTGAGCTATCCCTGGCTCCTACCCAAATTCCCAAACTCACCTGGCCTAGCTCTCTGCAGGGACAGTGCTTGTAAAGAGGCATTTGGCTGTGATCTCCCCACCTCCCAGGGCTGGTCTGGTCCCCCTGCCATTTGTCCTCCCTTCACCCAGTCCTCTAGGGCCCTCATTGCTGACTCACCTTCGTTCACAGGGGGCCATGTCTGTTGGGGATGCTGGGGGGCTGGGGTAGGGGTTTGGGGTTGGGTCTGGGGCTGTGGGGGCAGCTGGGGCTGTGGTTGTGATTGTGGCTGGGGCTGTGGTTGTGGTTGGGGCTGCAGCTTAGGCGGGGGTGCTCGGGTGAAGAGGGGGGACCCAGGGAGCATGGCGCGGCTGGCCCCGTGCTCCCAGAAGGCGTTCTGCAGCTTGAAGATCATGCTGAGGGGGATGGGACGCTGGCGCGGGGCCCCGCGGGGCTGGGGGCTGGAGGGGGGCATGGGGATGCGGCTGACGGGCTGCCAGCTGCGAGGCAAAGTGCCCGACGGCCCCGCGGAGCCCAGCGAGCGCCGGTAGCTGCCCGCGTCTGAACGCCGGTCGCTGGCCAGAGGAGAGACCTTGTAATTGCGCGGCAGGGTGGCGCTAGTGAGGTTGTCCTGGGGAAGAGGGAAGGGAGAAGGGGATCGGGTGAGAGAGGGAAGGTGGAGGGGAGGTAAAGACAAAAGACGAGAAGGGAGAGGAGGTGAGGGAAGCCCTGGGAGTGAGGGAGAAGAAAGGGTGAGGAAGGAGCAGAAACCCAGCACAGTGAAGGGAGAGCGTGGGAACGGGCGCCGAGACCCAGATCGCAGCCCCGAGGGGGAGACTGGCCTTGACCCCGCTCCCCCACCCCACTCCTCGACCTTCCCCAGCCTCTCCTCCCCAGGCGTCGCCTCCTCACCTTGCCGGTGCCCCCCAGTCCATCCAGGCTGCTCTCCCTCCAAGGCAACAGCTGCAGGCTCGGCGAGGCAGGCCTTGCGAAGACGTCCAGGCCTGCGGGGCGGGAATCATTAGGGTCTGTGGGGCTGCCTCTCCTCCGGGTCCTCCATTCCCCGGGCCTCCACCACTCACGTTCATAGCTCGCTGTCTGCGAAGGCTTCTTCTCGTACGCCACGTCCAGGTCAGACTCGTTCCAGGCTTTCGGAGGCCGCCGGCGCAGCGTCAGGTCGTCTGGGGAGAAGTTTCCAGGGAGGATGAGACGGGAGGGGTGGCGAGCCCCGGATCCTGCCCGCTTTGACCCCGCGAGTCAAAGGCCCCGCGAGGGGCCCCTGGGTTCACCTTGCGCGCGCAGAGGCGGGGCGAATGCGCTGCCGCCGGAGCCTAGCAGGGAGCTCCCGAAGGCGGACGCTGGCGCGTCGTAGGCTGTGGCAGGGGGGCGCGGTGACGGCCCACGCTCGGGGAAGAAGGCCTGGGGCCCCTCCGCCAGGGGGCTGCCGCGGGGGGAGCCTGCGCGGCCCAGGAAGTCGAAAGGCGTGGGGGGACCCTGCTGGCGGAGCGGGCCTGGCCCGGGCCGCGGGGAGGGCGCACGGCCGAGGGAGCTGCCTGCGCCATCGAAGGCGCGGGGCCGGGGCGAGGTCGCGCGGTCCAGGCTGCCGTAGGCGTCCGGCTGCAGGTAGAGCGGGGTGCGCGGCGACGACGGCCGTCCCTTGGGGGACAGCGGGCTGTAGGGGTGTAGGGTTGGGGCACTCTCTGATCGTCCGAACGGGGTGTCTGCGCCGTCGGTGGCCGCCTTCCGGGGGGACCCTCGGCTGCCGAAGGGCTCAGGGATCGAGCTGGAGCTGTACCGGGGCGGCTGTGGGGAGGCCAGGGCATTGAGGGATGGATCAAAGGAGACATTAGTGGAAGGGTTGGTGTGTGGGCGGGGGTGTCAAGAGAGATCACTGGAGGTCAACCCAGAGGAGGCTGACCGGCCATGGAAATTCAGGCACAGAGAGCCCAGGTGAGTAGTGGTGGGGAGACAGCCCTGAATCAGCACTGTGGCTAGCCCATTACTCTATGTCACCTTTATGCCACTTAGGTAAACACCTCTTTCCTTCTGAGGGTCCCTTTAGATGTCCACTTCCACTGGTCCCCTCTTTTCTATTTCTTTCTTTCTTTCTTTCTCTCTCTTTCTTTTCTTTCTTTCTTTCCTCTCTCTCCTTCCTTCCTTTCTCTCTCTCTCCTTCCCTCCCTCCCTCCCTCCCTGCTTGCTTGCTTTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTATCTCGGCTCATTGCAGCCTCAACCTCCCTGGCTTAGTGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGGATTACAGGTATGCACCACCACACCTGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCTGTCTCTGAAAGTGTTGAGATTACAGGCGTGAACCACCGTGCCCAGCCAGATTTTTAAAAAATCATTTGTAGAGGCTGGTCTCAAACTCTTAGTCTCAAGCAATTCTCTCACCTCGCCTTCCAAAGTGCTGGGATTCCAGGTCTGAGCCATCGCGCCTGGCCTGGTCCCCTTTTTTCAAGTTCCCTTGAAGAGCCCACAACCTGCATAACTATATGGGGCAATTTTGCCTGAAATCCAGGCCTCTGGTCTGGACTGTGGCGAGAGGCTGGCTTTGGAGATCAAGGTGGGAACCAGGCTTACCCTAGAAGGGGGTCCGGCCTGCGGGCCAGGAGGCGCGGGAGAGTCTGACCACAGCGACTCCAGCTGCTTGGTCAGTTCATCCACCTTGGCCGCCGCCGTGTCCAGCTCCATCTGCTTCAGATCCATGTGTTTCATGGCCAGCGCTGGGAAGGTGGGAGTGGAGGTAAGGACCTGGCCTCCTGGCAGGGGCCGGCCTCAGCACCCCTCGCCCGCTGCCGAGGTCCCCGCCTCGCCAGCCCCGCCCCCTACTCCAGCTTACACTGGAAGTTCATGTCCAGAAAGTCCCGCGCGCTCTGGAATGCCTCGCTGTCCATGGTGCCGGCCGGAGCGGGCGCCTGCATGGTGGGGAGGGAGGGAGCTGGCTAAGACCCCGCCCCTCTAGACCCCGCCCTCAGGGAGTCAGACGCCGTCAGGAGCGGGACAACGC
|
TTTCACTATGTTGCCCAGGCTGGTCTTGAACTCCAGAGCTCAAGCAATCCTGTCTGCATTAGCCCACCAAACTGCTAGGATTACAAGGGTGAGCCACGGTGCCTGGCTAATATGGTAGCTATTGATAGCTTACTATGTATCAGATCCTATTTATTTATTTATTTTTGAGACAGAGTCTCACCCTGTCACCTGTGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCCACCTCCGCCTCCTTGGCTCAAGCTGAGTAGCTAGGACTACAGTGGTGAGCCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTGATAGAGATGGGATTTCATCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCAACTGCACCTGGCCCATCAGGTGCTGTTTTAAAGGCTTTATATGAATTTAATAACATATGTCAATAGGATCGATTCTATCATTATTTGCCTTTTTTTTTTTTTTTTTTTTTGAGGCAGAGTCTCCCCGTCACCCAGGATGGACTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCATATTGGCCAGGCTGGTCTCGAACTTCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCATTATTTCCCTTTTACACTCAAGAAAATTGAGGCCCAGTGAGGTTAAGTGACTTGCCCAAGGTCACACAGCGTGGAACCAGGCAGTCTGGCTTCAGGGTCCACACTTAACCTTTGAGCTATCCCTGGCTCCTACCCAAATTCCCAAACTCACCTGGCCTAGCTCTCTGCAGGGACAGTGCTTGTAAAGAGGCATTTGGCTGTGATCTCCCCACCTCCCAGGGCTGGTCTGGTCCCCCTGCCATTTGTCCTCCCTTCACCCAGTCCTCTAGGGCCCTCATTGCTGACTCACCTTCGTTCACAGGGGGCCATGTCTGTTGGGGATGCTGGGGGGCTGGGGTAGGGGTTTGGGGTTGGGTCTGGGGCTGTGGGGGCAGCTGGGGCTGTGGTTGTGATTGTGGCTGGGGCTGTGGTTGTGGTTGGGGCTGCAGCTTAGGCGGGGGTGCTCGGGTGAAGAGGGGGGACCCAGGGAGCATGGCGCGGCTGGCCCCGTGCTCCCAGAAGGCGTTCTGCAGCTTGAAGATCATGCTGAGGGGGATGGGACGCTGGCGCGGGGCCCCGCGGGGCTGGGGGCTGGAGGGGGGCATGGGGATGCGGCTGACGGGCTGCCAGCTGCGAGGCAAAGTGCCCGACGGCCCCGCGGAGCCCAGCGAGCGCCGGTAGCTGCCCGCGTCTGAACGCCGGTCGCTGGCCAGAGGAGAGACCTTGTAATTGCGCGGCAGGGTGGCGCTAGTGAGGTTGTCCTGGGGAAGAGGGAAGGGAGAAGGGGATCGGGTGAGAGAGGGAAGGTGGAGGGGAGGTAAAGACAAAAGACGAGAAGGGAGAGGAGGTGAGGGAAGCCCTGGGAGTGAGGGAGAAGAAAGGGTGAGGAAGGAGCAGAAACCCAGCACAGTGAAGGGAGAGCGTGGGAACGGGCGCCGAGACCCAGATCGCAGCCCCGAGGGGGAGACTGGCCTTGACCCCGCTCCCCCACCCCACTCCTCGACCTTCCCCAGCCTCTCCTCCCCAGGCGTCGCCTCCTCACCTTGCCGGTGCCCCCCAGTCCATCCAGGCTGCTCTCCCTCCAAGGCAACAGCTGCAGGCTCGGCGAGGCAGGCCTTGCGAAGACGTCCAGGCCTGCGGGGCGGGAATCATTAGGGTCTGTGGGGCTGCCTCTCCTCCGGGTCCTCCATTCCCCGGGCCTCCACCACTCACGTTCATAGCTCGCTGTCTGCGAAGGCTTCTTCTCGTACGCCACGTCCCCGCCGGCGCAGCGTCAGGTCGTCTGGGGAGAAGTTTCCAGGGAGGATGAGACGGGAGGGGTGGCGAGCCCCGGATCCTGCCCGCTTTGACCCCGCGAGTCAAAGGCCCCGCGAGGGGCCCCTGGGTTCACCTTGCGCGCGCAGAGGCGGGGCGAATGCGCTGCCGCCGGAGCCTAGCAGGGAGCTCCCGAAGGCGGACGCTGGCGCGTCGTAGGCTGTGGCAGGGGGGCGCGGTGACGGCCCACGCTCGGGGAAGAAGGCCTGGGGCCCCTCCGCCAGGGGGCTGCCGCGGGGGGAGCCTGCGCGGCCCAGGAAGTCGAAAGGCGTGGGGGGACCCTGCTGGCGGAGCGGGCCTGGCCCGGGCCGCGGGGAGGGCGCACGGCCGAGGGAGCTGCCTGCGCCATCGAAGGCGCGGGGCCGGGGCGAGGTCGCGCGGTCCAGGCTGCCGTAGGCGTCCGGCTGCAGGTAGAGCGGGGTGCGCGGCGACGACGGCCGTCCCTTGGGGGACAGCGGGCTGTAGGGGTGTAGGGTTGGGGCACTCTCTGATCGTCCGAACGGGGTGTCTGCGCCGTCGGTGGCCGCCTTCCGGGGGGACCCTCGGCTGCCGAAGGGCTCAGGGATCGAGCTGGAGCTGTACCGGGGCGGCTGTGGGGAGGCCAGGGCATTGAGGGATGGATCAAAGGAGACATTAGTGGAAGGGTTGGTGTGTGGGCGGGGGTGTCAAGAGAGATCACTGGAGGTCAACCCAGAGGAGGCTGACCGGCCATGGAAATTCAGGCACAGAGAGCCCAGGTGAGTAGTGGTGGGGAGACAGCCCTGAATCAGCACTGTGGCTAGCCCATTACTCTATGTCACCTTTATGCCACTTAGGTAAACACCTCTTTCCTTCTGAGGGTCCCTTTAGATGTCCACTTCCACTGGTCCCCTCTTTTCTATTTCTTTCTTTCTTTCTTTCTCTCTCTTTCTTTTCTTTCTTTCTTTCCTCTCTCTCCTTCCTTCCTTTCTCTCTCTCTCCTTCCCTCCCTCCCTCCCTCCCTGCTTGCTTGCTTTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTATCTCGGCTCATTGCAGCCTCAACCTCCCTGGCTTAGTGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGGATTACAGGTATGCACCACCACACCTGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCTGTCTCTGAAAGTGTTGAGATTACAGGCGTGAACCACCGTGCCCAGCCAGATTTTTAAAAAATCATTTGTAGAGGCTGGTCTCAAACTCTTAGTCTCAAGCAATTCTCTCACCTCGCCTTCCAAAGTGCTGGGATTCCAGGTCTGAGCCATCGCGCCTGGCCTGGTCCCCTTTTTTCAAGTTCCCTTGAAGAGCCCACAACCTGCATAACTATATGGGGCAATTTTGCCTGAAATCCAGGCCTCTGGTCTGGACTGTGGCGAGAGGCTGGCTTTGGAGATCAAGGTGGGAACCAGGCTTACCCTAGAAGGGGGTCCGGCCTGCGGGCCAGGAGGCGCGGGAGAGTCTGACCACAGCGACTCCAGCTGCTTGGTCAGTTCATCCACCTTGGCCGCCGCCGTGTCCAGCTCCATCTGCTTCAGATCCATGTGTTTCATGGCCAGCGCTGGGAAGGTGGGAGTGGAGGTAAGGACCTGGCCTCCTGGCAGGGGCCGGCCTCAGCACCCCTCGCCCGCTGCCGAGGTCCCCGCCTCGCCAGCCCCGCCCCCTACTCCAGCTTACACTGGAAGTTCATGTCCAGAAAGTCCCGCGCGCTCTGGAATGCCTCGCTGTCCATGGTGCCGGCCGGAGCGGGCGCCTGCATGGTGGGGAGGGAGGGAGCTGGCTAAGACCCCGCCCCTCTAGACCCCGCCCTCAGGGAGTCAGACGCCGTCAGGAGCGGGACAACGCNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 306,551 |
The genetic variant at chromosome 19, position 45488717, affecting gene RTN2 (reticulon 2): benign or pathogenic? Disease name(s) if pathogenic?
|
benign
|
GCCCGGCTAATTTTTGGATTATTTATTTATTTTTTTCTTGTTCTTTTTTTTTTCTTTTTCTTTCTTTCTTTTTTTTTTTTTCCTGAGACGGAGTCTTGTTCTGTGGCCCAGGCTGGACTGCAGTGGTGCAATCTCAGCTCACTGCCACCACTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGGACACCACCAAGCCTTGCTAATTTTTGGATTTTTAATACAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCTGCCTCAGCCTCCCAAAGCTGGGATCACAAGCGTGAGCCACCATGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGATAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCTCTACCTCCTAGGGTTCAACTCATCCTCTTGCTTCAGCTTTCAGAGTAACTGGGACTATAGGTGTGTGCCACCACACCTGGCTAGTTTTTAACCTTTTTGTAGAGATGGGGGTCTTACTATGTTGCCGAGGCTGGTCTTGAACTTCTGGCCTCAAGCAATTCTCCTGTCTCAACCTCCCAAAGTGCCGGGATTACAGTTGTGAGCCACTGTGCCTGGCCTGATTTAAATACAGTTTAATTGTGAGTCTTGGTGATTCCAGCCTGTGAAGGACAGAGTTAGGACTAACTGGCAGGGCATATTATCATGTGGCTCCCAGCTGTGCTGGAGAAGGGGCTGTCAGTCCATCCGCCTGTCTCTGGATAGGATGGATGTCAGCAGTCCTGCTAATGTCAGTCTTGTGGGCAACAGCCATCCCACTCTTGATTTTATTTTTATGTTTTTATTTTTTATTTTTTGGTTTTTTTTTTTTTTTTTTTTGAGACAGACTCTTGCTCTGTCACCCAGGCTGGAATGCAGTAGCATTTAACTGACATGTCAGTTAAAATCAAGAGTGAAGGCCAATCTCAGCACTTTGGGAGGCCAACGCGGGCAGATCACCTGAGGTCGGGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTGATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGTCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGGCAGCAAAGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTTAGGAGTTTGAGACCAGCCTGGCCAGCATGGCAAAACTCCGTCTCTGCTAAAAATACAAAAATTAGCCGGGCACGGTGGCCATATGCCTGTAATCCCAGCTACTCAGAGATTGAGGCAGGAGACTTGCTTGAGCCCAGGAAACGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAGAAAACCCAAAACAAAACAAAAACAAACAAAAAGCCTGTCCCTGGCTGATGCTGATAAGACATGTTACTTAGACTCTGGTTGTATTGGGAAGGTGCTGCAGCCAGGACACCTGTGTCTGGCCGGGACATCTGTCAATGGGACCCCGGTTCTGGAAGGAGATGGTCAGACCCCCATGTTTAGCTGGGGTGCTGACAACTGAGGGTGTCACACTCACCTGGTGCTGCCGGTACAGCAGGGGGATGGTGAATAGACCAATCACTCCTGTGGGTACAGAGATGGGGGCGTCAGGGTGTTCCCAAGAGATGAACAGTTCCATCTGGAGCCCTGTCCCCCACCAGACTCCAAGTCCCCATTTGCCCCTTACGGCCTTCCCAGCTCACCCAGAATGAGAAGAGTCAAACCATTGAAGATGGCACCCACGAAGGTCAAGATGTAGAAGAGGAGGGCCAGCTGGGGGTGAAGGTCAGGGTCAGCAGAGCCCACCGGGAATTCCCTCTCATGCTGTGAATTTACCCAACAGTCGCCCTCCCACCCCCTAGCCATGCAGAGGTGAATGGGGGAACCCAGGAGGGGCTGAGAGCTCCAGGCCACCTTGAGGGAATCCACGAGGTCTTCTACCAGGAAGAAGTGCCGCAGCTGCGTGGCCGCCGAGACCACGCGGGAGGTGATCTGGTGGGACAAACGTTCCGTCTGCTCCCGAGTCAGGGTGAGGTCCACATCCAGGTAGGCCCTGCGGGGACAAAGGAGTGTGGGGCGACTCAGTGGGTGACCAGCTCAGACTGGTGCAGGGGCAGCTGAAACAAGGGAGAGGAATGGCGGTTGGGAGAAGACCAGAGTTAGGACTGAGGGGCAGCTCAGAGGAATCATATGTAGAGGGCTGGGGTCAGGGTCAGGGTCAGGGGAAGGGATCGAGGATGAAGGGTACCAGGTTAGGATCAGAGATTAGGATTGAAGGGTAGGTTAGGGGATCGGGATGAAAAATGATCAAGATGAGTCGGGGTCCGGGTGGGAGTCGGTGCCTGATTTGAGGTCGTGGGTCATGCTTTAGGGTCAGGACAGGGGCTCAGGTCAGGGGCCGGGGGTTCTCACTGGAAAGGGTTGGCTCCATCCCCCCGGTGCACGGCCTGCAGCACTTTGCGGTAAACCCTGAGAGAGATGGTGCCGCAGAGCAGCAACAGAGCCAAGTGCGCGGCCACGGACACGATGCTAAAGTGCAGGAGGCAGAGGAGGGAGACCATCAGGCCTGTGAAGACCACTCCTGACGTCCTCGTGTCCTTCCAGTACAGCAGGTCCGCCACTGTGGAGGGGTGGGGGGCATCAGGGCTTGTACCTGACCTGGCTGGTCTCCTCACCTCCCTTTCCCTGTCCTACAGCTGAAAATGACTTCTCGACACACCTGTTTGAGCATAACCTGATTTCCTTTTTTTTTTTTTTTTTTTGAGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGGCAGTGGTGCAATCATAGCTCACTGCAGCCTCGATCTCCTGGGCTCAAGTGATCCTCCCACGTCAGCCTCCTCAGTAGCTGGGACTACAGGTGTGCACCACCACTCAGCTAATTTTTGTTTTTGTTTCTGTTTTTAGAGGTAGGTGGCTCTCACTGTGTTGCCCAGGCTAGTCTCGAACTCCTGGCCTCAAGTTATCCTCCTGCATCAGCCCTCCAAAGTGCTGGGATTATACGTGTGAGGCACAGCACACAGCCCGATTTGCAATTTTTTAAAAATTATTTTATTTTATTTTTATTTTTTTCTCTATTGCCCAGGCTGGAGTGCAGTGGCGCAATCACGACTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTTCTAAGTAGCTGGGATTACAGGCATGTGCCACCATTCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGGTCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGTGCTACCGCGCCTGGCCTTAATTCATTATTTTAAAGAGCTGCATAGTATTCTGTGTTGTGGCTGTGCTCCTGTGCTCTCATTCATTTTATTTAACCATGTACCTATTGCTGGGTCATTCAGTTTGTTTCCTAACCCCTTCACCGCAAGCAGGGCTGCAAGCAACATCCTCCAACAGATATTCTCACCTCCTGGAGTGACTATTTCTGAGACAGATTCCCAGGGTGGAATTGCTGGGTGGACTGGTTGTGTGTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGTTTTTGTTTTTATTTTTTTTGAGACGGATTCTCGCTCTATTGCCTAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGAGGGCTCCACCACACCCGGCTAATTTTTTATATTTTGGTAGAGA
|
GCCCGGCTAATTTTTGGATTATTTATTTATTTTTTTCTTGTTCTTTTTTTTTTCTTTTTCTTTCTTTCTTTTTTTTTTTTTCCTGAGACGGAGTCTTGTTCTGTGGCCCAGGCTGGACTGCAGTGGTGCAATCTCAGCTCACTGCCACCACTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGGACACCACCAAGCCTTGCTAATTTTTGGATTTTTAATACAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCTGCCTCAGCCTCCCAAAGCTGGGATCACAAGCGTGAGCCACCATGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGATAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCTCTACCTCCTAGGGTTCAACTCATCCTCTTGCTTCAGCTTTCAGAGTAACTGGGACTATAGGTGTGTGCCACCACACCTGGCTAGTTTTTAACCTTTTTGTAGAGATGGGGGTCTTACTATGTTGCCGAGGCTGGTCTTGAACTTCTGGCCTCAAGCAATTCTCCTGTCTCAACCTCCCAAAGTGCCGGGATTACAGTTGTGAGCCACTGTGCCTGGCCTGATTTAAATACAGTTTAATTGTGAGTCTTGGTGATTCCAGCCTGTGAAGGACAGAGTTAGGACTAACTGGCAGGGCATATTATCATGTGGCTCCCAGCTGTGCTGGAGAAGGGGCTGTCAGTCCATCCGCCTGTCTCTGGATAGGATGGATGTCAGCAGTCCTGCTAATGTCAGTCTTGTGGGCAACAGCCATCCCACTCTTGATTTTATTTTTATGTTTTTATTTTTTATTTTTTGGTTTTTTTTTTTTTTTTTTTTGAGACAGACTCTTGCTCTGTCACCCAGGCTGGAATGCAGTAGCATTTAACTGACATGTCAGTTAAAATCAAGAGTGAAGGCCAATCTCAGCACTTTGGGAGGCCAACGCGGGCAGATCACCTGAGGTCGGGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTGATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGTCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGGCAGCAAAGGCTAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTTAGGAGTTTGAGACCAGCCTGGCCAGCATGGCAAAACTCCGTCTCTGCTAAAAATACAAAAATTAGCCGGGCACGGTGGCCATATGCCTGTAATCCCAGCTACTCAGAGATTGAGGCAGGAGACTTGCTTGAGCCCAGGAAACGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAGAAAACCCAAAACAAAACAAAAACAAACAAAAAGCCTGTCCCTGGCTGATGCTGATAAGACATGTTACTTAGACTCTGGTTGTATTGGGAAGGTGCTGCAGCCAGGACACCTGTGTCTGGCCGGGACATCTGTCAATGGGACCCCGGTTCTGGAAGGAGATGGTCAGACCCCCATGTTTAGCTGGGGTGCTGACAACTGAGGGTGTCACACTCACCTGGTGCTGCCGGTACAGCAGGGGGATGGTGAATAGACCAATCACTCCTGTGGGTACAGAGATGGGGGCGTCAGGGTGTTCCCAAGAGATGAACAGTTCCATCTGGAGCCCTGTCCCCCACCAGACTCCAAGTCCCCATTTGCCCCTTACGGCCTTCCCAGCTCACCCAGAATGAGAAGAGTCAAACCATTGAAGATGGCACCCACGAAGGTCAAGATGTAGAAGAGGAGGGCCAGCTGGGGGTGAAGTCAGGGTCAGCAGAGCCCACCGGGAATTCCCTCTCATGCTGTGAATTTACCCAACAGTCGCCCTCCCACCCCCTAGCCATGCAGAGGTGAATGGGGGAACCCAGGAGGGGCTGAGAGCTCCAGGCCACCTTGAGGGAATCCACGAGGTCTTCTACCAGGAAGAAGTGCCGCAGCTGCGTGGCCGCCGAGACCACGCGGGAGGTGATCTGGTGGGACAAACGTTCCGTCTGCTCCCGAGTCAGGGTGAGGTCCACATCCAGGTAGGCCCTGCGGGGACAAAGGAGTGTGGGGCGACTCAGTGGGTGACCAGCTCAGACTGGTGCAGGGGCAGCTGAAACAAGGGAGAGGAATGGCGGTTGGGAGAAGACCAGAGTTAGGACTGAGGGGCAGCTCAGAGGAATCATATGTAGAGGGCTGGGGTCAGGGTCAGGGTCAGGGGAAGGGATCGAGGATGAAGGGTACCAGGTTAGGATCAGAGATTAGGATTGAAGGGTAGGTTAGGGGATCGGGATGAAAAATGATCAAGATGAGTCGGGGTCCGGGTGGGAGTCGGTGCCTGATTTGAGGTCGTGGGTCATGCTTTAGGGTCAGGACAGGGGCTCAGGTCAGGGGCCGGGGGTTCTCACTGGAAAGGGTTGGCTCCATCCCCCCGGTGCACGGCCTGCAGCACTTTGCGGTAAACCCTGAGAGAGATGGTGCCGCAGAGCAGCAACAGAGCCAAGTGCGCGGCCACGGACACGATGCTAAAGTGCAGGAGGCAGAGGAGGGAGACCATCAGGCCTGTGAAGACCACTCCTGACGTCCTCGTGTCCTTCCAGTACAGCAGGTCCGCCACTGTGGAGGGGTGGGGGGCATCAGGGCTTGTACCTGACCTGGCTGGTCTCCTCACCTCCCTTTCCCTGTCCTACAGCTGAAAATGACTTCTCGACACACCTGTTTGAGCATAACCTGATTTCCTTTTTTTTTTTTTTTTTTTGAGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGGCAGTGGTGCAATCATAGCTCACTGCAGCCTCGATCTCCTGGGCTCAAGTGATCCTCCCACGTCAGCCTCCTCAGTAGCTGGGACTACAGGTGTGCACCACCACTCAGCTAATTTTTGTTTTTGTTTCTGTTTTTAGAGGTAGGTGGCTCTCACTGTGTTGCCCAGGCTAGTCTCGAACTCCTGGCCTCAAGTTATCCTCCTGCATCAGCCCTCCAAAGTGCTGGGATTATACGTGTGAGGCACAGCACACAGCCCGATTTGCAATTTTTTAAAAATTATTTTATTTTATTTTTATTTTTTTCTCTATTGCCCAGGCTGGAGTGCAGTGGCGCAATCACGACTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTTCTAAGTAGCTGGGATTACAGGCATGTGCCACCATTCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGGTCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGTGCTACCGCGCCTGGCCTTAATTCATTATTTTAAAGAGCTGCATAGTATTCTGTGTTGTGGCTGTGCTCCTGTGCTCTCATTCATTTTATTTAACCATGTACCTATTGCTGGGTCATTCAGTTTGTTTCCTAACCCCTTCACCGCAAGCAGGGCTGCAAGCAACATCCTCCAACAGATATTCTCACCTCCTGGAGTGACTATTTCTGAGACAGATTCCCAGGGTGGAATTGCTGGGTGGACTGGTTGTGTGTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGTTTTTGTTTTTATTTTTTTTGAGACGGATTCTCGCTCTATTGCCTAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGAGGGCTCCACCACACCCGGCTAATTTTTTATATTTTGGTAGAGAN
|
benign
| 306,596 |
Evaluate the clinical significance of the mutation at chromosome 19, position 45493266 in gene RTN2 (reticulon 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Hereditary_spastic_paraplegia_12', 'Spastic_paraplegia']
|
CAGAGTCTCACTCTGTCACCCTGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTACAGCCTCTACCTCCCAGAGTCAAGCAAACCTCCTACCTCGGCCTCCTAGCAGCTGGGACTACAGGTGGCACCACGATATCGTGCTAATTTTTTTTTTTTTTTTTTTGGACAAAGTCTTCCTCTGTCACCCAGGCTGGAGTACAGTGGCATGATCTCAGCTCACTGCAGCCTCTGCCTCCCGAGTTCAAGAGATTCTTGTGCCTCAGCCTCCCAACTAGCTGGGATCACAGGCATGAGCTGCCATGCCTGGCCTGGCTAATTTTTTTTTTTTTTTTTGAGGCAGAATCTCGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGTCACCATGCCCGGCTAATTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCACCTCGACCTCCTAAACCTGGCTAATTTTTAAATGTTTTGTAGAGATAGGGTCTCGCTATGTTGCCCAGGTTGAATTCCTGGCTTCAAGTGATCCTCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGCGCTCGGTCATATATATTTTTTTAATGTCATAAATTTTGAAACACTGCTTACTAGTAAGACCATAACAGTTCTTATTTCCACAAGAAGCAAGAGAAAGATCTTTTCCCAGCATCCTGCCCTGCAGTGGGTTGCAGTTCTTTTTAACTTTTGCCAATCTGTCAGGTGTAAAGTGATATCCCCTTGATACCCTTAGCAACACATGTTTCTAAGTCCTAAATGTATTAATCACGCCATACTCCTTTCCAGGGCCTAACTCAAATTTCTGACCCCTTTCTGAGACCCTAAAACACACCTCCTAAACCCAACCTCAGCCCTGACCAGTGACCTTTGTACCCCAACCTTCATCTCATCTGTCTAAACTTTAGGCTCACTCCTGTAATCACAACACTTTGGGAGGCCGAGGCGGGAGGATCACCTGAGGCCTGGACAACATAGTGAGACCCTGTCTCTACAAACAAAATAAGAAAATTAGCAGGGCGTGGTGGCCTGTGGCTCTAGTCCCAACTACTTGGGAGGCTGAGGTGGGAGGATCACTTGTGCCCAGGTGTTGGAGGCTGCAGTGAGCTATGATCCCACCACTGCACTCCAGAAAGGGCGACAGAGGGAGACTCTGTGGCTTAAAAAGAAAAAGAAACTTTAGTAATCTGCTTTCCTTTGAGTCCTGAAAACCAGGAACTCAGTACCTTTCTATTTCTTTCCAGATCCTCTCTATCCTCCCACACTCCCTCCAACTGACCCCTCCGACCGGTCCCTCTTAGAGGCTCACCCCTCACTTCCGTCTCCTTCCAATGCATCTCCTCTCATTTACCTCCAAATAGGGCAGCCCCTCCCTCCCCATAGCAGGGCCCTCCCAGGCAGGCTCCTAGTGGCCGGCGCCGGTGGATGGGGGAGGGGCCAGGTCGCCTGAGGCGGGGGCTAAGTTTAGGCACGCTGGGGGGAGGGGGCCTCCCCGCAGCTGTTCTGGCCCGTCTGGCCCCTGAGTGACAGCGCTGCCTGGGGCCGAGGCTGGGGGAGGGGGTCCTCCCTGCTCCTGGGCCCCAAAGTGCTGGCTCGAAGGAGAAGGGACCCCATGCTCCCTCTGGGTCCTCCCTATACTGCCCCTCGGCCCCCTAGCCCCAGCCTGCAGCGCTGCGGAAGCAGATCAGTAATAAAAATGCTCCGGATGTGCAGGAGATAAGGGCGAGTTTGGACCCCGTTCCGCCGACCTCAGCCCCCGTCCAGCCCGTTCCGCAAGCCCACCTTTACTCCCCATATCGGCTCCGAGTGAGAGGCTGGGGACACCGCTGCTTCTCGGGGATTTTGCCCACTTCAGTAGAACCCGGAGGACAGGAGTAGGGGGGGTGGGGCCCCTTTGGACCCAGCCAATGGCTGTCCACAGAGGTGGGGACAATTCCAAAATTGGAACCGTCTTGTAAACAGCCAAAAGCAATGATGTCTTTAACCATTCCATAGCTGTTCCTGGAGGCGGAGCATATTTTAAAGTAAGGCTGGGTCATTTTACAACTGGCCAATAGATGTGGTCAGGAAAAAGAGGGTTTTTGTTTGTTTTTTCAAATAGAGATCGAGTCTCCCTATGTTGCCCAGGCTGGTCTTGCACTCTTGGCTTCAAAGGATCCTCCCGCCTCGGCCTCCCAAAGTGTTTAGGATTACAGGCATGAGCCACTGCGCCCGGCCAAAAAGAAGAGTTTTTAAAAGGCACAGAGTTTACTTATAAATATTCTACGGCCACATCTAAATAAGGAGAGAACTGTATTTTTTCAGGGATTTGGCCTGTCCAAAATCAGCCACTAGGAGGAGCACTCCAGAAGAGGGAGGATTATTTTATTTTATTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTTCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTACAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTCACCTCAAGTGATCCGCCCGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCGGGGAAATTTTTTTAAAAAGCGGAGTTTATCACGTCTAGCCAGATGTGATATCACGTCTATCTCTTCCCTTTTCCACTATGTACTGTTCCTTTGCGAGGTTGGTCCCTTTAATTCAAAATCCTCTCACCTTTTGCCTTCTGTGGGCCAATGCAGCATCTTCATACACGTTGCTTACCTAGAAGGCGTGGCTCCACCGTGAATTCTAATTGGTCCGTGCTATCGAGGCACTGTCCCCTTACTGGCTCTCGCTCCAGTGGCCCCCACTGCTTTTCTTCCTCTTCCAGCAATGGCTCTTCGGGCCCAGAGTTCGAATCTCGCGATCGGGATGGGGACGGAGTACCGGCCTGGGGTGTCCCAGAGCCCGGACTGAGCTGGGGAGTCAAGACCTCGGGCGATGAGGGCTGAGCAAGTCGGAGTCGTAGGTCCAGTTCTGATACGGTAGAGAGAGGAGGCCGTGAGCTTTCTTCTTGGAGGTGCCCCAAGGAGAAACCACCCACCCCTCTTGGCTTTGGTCCCAGCACCTCGGACATCTCACCTTCCCCAGCTTCTCCTGTCTCCAATCTGTTGGGTTCTTGGGGTTCTTCGTCTTCCAGCGGGGTGGAGCTGCTGGTGGAAGAGTCCTCCCCGGATCCCGTTCCCCGGGCCACCCAGCCCAGATGGTCCAACCGAAGCCTCAGGTCTTCCAGAGGGCGCTCGGATGGAGGCGCGGTGTCAGGATCACCCCGTCGTCCAGGCTCCGGGGATTGGCTCAGGCTGGGGATGCTCTCCAAGCTGTCGCCCAGGCTGGGCTGAGGGTGCTGGTCTCGTGGTTCCGAGACTGAGCGGCCCTGGGGGCGGGGGCGGCGGGCAGTTGAATCCCTGCGGCCCCCGGAGCCCACTACACCATCAAAGGCGATGTAGGAGAAGGTCAGCTCCCGGGGGGTGCCCCAGTCCTGCGACGTGGTCTCCTCCTCGTCCTCCTCTGAGAATTCCCGGGCTGTGTGCAGCTCTCGAAAATCAGAGTCGTCGTTCCCTCCTGCAGTGGGTGAAGGAGAGCCTTGTTTCCCTCAGCAGGTCCCTGAGCTGCCCAGCCCTGAGCCCCTTCACATGCTCCCCACCACTTACCTTCTGTGGAATCAGGAGTTGAGGAGGCTGTAGACGGAGCTTCTTCTGCGAGAGGGAAAGAATCGAAGACTCTTAGAAGCTTAGACTGTCCGAATCACAGAAGTGTCCCAGTCCTGGAATCTTAGAATATTTGAATCACGGGATTTTTAGAACATTCTGCACACAGACTCTAAAACCTAGCATCACTGCCTGATGAAGCTCAGAGTCTTTGAAGTCCAA
|
CAGAGTCTCACTCTGTCACCCTGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTACAGCCTCTACCTCCCAGAGTCAAGCAAACCTCCTACCTCGGCCTCCTAGCAGCTGGGACTACAGGTGGCACCACGATATCGTGCTAATTTTTTTTTTTTTTTTTTTGGACAAAGTCTTCCTCTGTCACCCAGGCTGGAGTACAGTGGCATGATCTCAGCTCACTGCAGCCTCTGCCTCCCGAGTTCAAGAGATTCTTGTGCCTCAGCCTCCCAACTAGCTGGGATCACAGGCATGAGCTGCCATGCCTGGCCTGGCTAATTTTTTTTTTTTTTTTTGAGGCAGAATCTCGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGTCACCATGCCCGGCTAATTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCACCTCGACCTCCTAAACCTGGCTAATTTTTAAATGTTTTGTAGAGATAGGGTCTCGCTATGTTGCCCAGGTTGAATTCCTGGCTTCAAGTGATCCTCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGCGCTCGGTCATATATATTTTTTTAATGTCATAAATTTTGAAACACTGCTTACTAGTAAGACCATAACAGTTCTTATTTCCACAAGAAGCAAGAGAAAGATCTTTTCCCAGCATCCTGCCCTGCAGTGGGTTGCAGTTCTTTTTAACTTTTGCCAATCTGTCAGGTGTAAAGTGATATCCCCTTGATACCCTTAGCAACACATGTTTCTAAGTCCTAAATGTATTAATCACGCCATACTCCTTTCCAGGGCCTAACTCAAATTTCTGACCCCTTTCTGAGACCCTAAAACACACCTCCTAAACCCAACCTCAGCCCTGACCAGTGACCTTTGTACCCCAACCTTCATCTCATCTGTCTAAACTTTAGGCTCACTCCTGTAATCACAACACTTTGGGAGGCCGAGGCGGGAGGATCACCTGAGGCCTGGACAACATAGTGAGACCCTGTCTCTACAAACAAAATAAGAAAATTAGCAGGGCGTGGTGGCCTGTGGCTCTAGTCCCAACTACTTGGGAGGCTGAGGTGGGAGGATCACTTGTGCCCAGGTGTTGGAGGCTGCAGTGAGCTATGATCCCACCACTGCACTCCAGAAAGGGCGACAGAGGGAGACTCTGTGGCTTAAAAAGAAAAAGAAACTTTAGTAATCTGCTTTCCTTTGAGTCCTGAAAACCAGGAACTCAGTACCTTTCTATTTCTTTCCAGATCCTCTCTATCCTCCCACACTCCCTCCAACTGACCCCTCCGACCGGTCCCTCTTAGAGGCTCACCCCTCACTTCCGTCTCCTTCCAATGCATCTCCTCTCATTTACCTCCAAATAGGGCAGCCCCTCCCTCCCCATAGCAGGGCCCTCCCAGGCAGGCTCCTAGTGGCCGGCGCCGGTGGATGGGGGAGGGGCCAGGTCGCCTGAGGCGGGGGCTAAGTTTAGGCACGCTGGGGGGAGGGGGCCTCCCCGCAGCTGTTCTGGCCCGTCTGGCCCCTGAGTGACAGCGCTGCCTGGGGCCGAGGCTGGGGGAGGGGGTCCTCCCTGCTCCTGGGCCCCAAAGTGCTGGCTCGAAGGAGAAGGGACCCCATGCTCCCTCTGGGTCCTCCCTATACTGCCCCTCGGCCCCCTAGCCCCAGCCTGCAGCGCTGCGGAAGCAGATCAGTAATAAAAATGCTCCGGATGTGCAGGAGATAAGGGCGAGTTTGGACCCCGTTCCGCCGACCTCAGCCCCCGTCCAGCCCGTTCCGCAAGCCCACCTTTACTCCCCATATCGGCTCCGAGTGAGAGGCTGGGGACACCGCTGCTTCTCGGGGATTTTGCCCACTTCAGTAGAACCCGGAGGACAGGAGTAGGGGGGGTGGGGCCCTTTGGACCCAGCCAATGGCTGTCCACAGAGGTGGGGACAATTCCAAAATTGGAACCGTCTTGTAAACAGCCAAAAGCAATGATGTCTTTAACCATTCCATAGCTGTTCCTGGAGGCGGAGCATATTTTAAAGTAAGGCTGGGTCATTTTACAACTGGCCAATAGATGTGGTCAGGAAAAAGAGGGTTTTTGTTTGTTTTTTCAAATAGAGATCGAGTCTCCCTATGTTGCCCAGGCTGGTCTTGCACTCTTGGCTTCAAAGGATCCTCCCGCCTCGGCCTCCCAAAGTGTTTAGGATTACAGGCATGAGCCACTGCGCCCGGCCAAAAAGAAGAGTTTTTAAAAGGCACAGAGTTTACTTATAAATATTCTACGGCCACATCTAAATAAGGAGAGAACTGTATTTTTTCAGGGATTTGGCCTGTCCAAAATCAGCCACTAGGAGGAGCACTCCAGAAGAGGGAGGATTATTTTATTTTATTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTTCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTACAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTCACCTCAAGTGATCCGCCCGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCGGGGAAATTTTTTTAAAAAGCGGAGTTTATCACGTCTAGCCAGATGTGATATCACGTCTATCTCTTCCCTTTTCCACTATGTACTGTTCCTTTGCGAGGTTGGTCCCTTTAATTCAAAATCCTCTCACCTTTTGCCTTCTGTGGGCCAATGCAGCATCTTCATACACGTTGCTTACCTAGAAGGCGTGGCTCCACCGTGAATTCTAATTGGTCCGTGCTATCGAGGCACTGTCCCCTTACTGGCTCTCGCTCCAGTGGCCCCCACTGCTTTTCTTCCTCTTCCAGCAATGGCTCTTCGGGCCCAGAGTTCGAATCTCGCGATCGGGATGGGGACGGAGTACCGGCCTGGGGTGTCCCAGAGCCCGGACTGAGCTGGGGAGTCAAGACCTCGGGCGATGAGGGCTGAGCAAGTCGGAGTCGTAGGTCCAGTTCTGATACGGTAGAGAGAGGAGGCCGTGAGCTTTCTTCTTGGAGGTGCCCCAAGGAGAAACCACCCACCCCTCTTGGCTTTGGTCCCAGCACCTCGGACATCTCACCTTCCCCAGCTTCTCCTGTCTCCAATCTGTTGGGTTCTTGGGGTTCTTCGTCTTCCAGCGGGGTGGAGCTGCTGGTGGAAGAGTCCTCCCCGGATCCCGTTCCCCGGGCCACCCAGCCCAGATGGTCCAACCGAAGCCTCAGGTCTTCCAGAGGGCGCTCGGATGGAGGCGCGGTGTCAGGATCACCCCGTCGTCCAGGCTCCGGGGATTGGCTCAGGCTGGGGATGCTCTCCAAGCTGTCGCCCAGGCTGGGCTGAGGGTGCTGGTCTCGTGGTTCCGAGACTGAGCGGCCCTGGGGGCGGGGGCGGCGGGCAGTTGAATCCCTGCGGCCCCCGGAGCCCACTACACCATCAAAGGCGATGTAGGAGAAGGTCAGCTCCCGGGGGGTGCCCCAGTCCTGCGACGTGGTCTCCTCCTCGTCCTCCTCTGAGAATTCCCGGGCTGTGTGCAGCTCTCGAAAATCAGAGTCGTCGTTCCCTCCTGCAGTGGGTGAAGGAGAGCCTTGTTTCCCTCAGCAGGTCCCTGAGCTGCCCAGCCCTGAGCCCCTTCACATGCTCCCCACCACTTACCTTCTGTGGAATCAGGAGTTGAGGAGGCTGTAGACGGAGCTTCTTCTGCGAGAGGGAAAGAATCGAAGACTCTTAGAAGCTTAGACTGTCCGAATCACAGAAGTGTCCCAGTCCTGGAATCTTAGAATATTTGAATCACGGGATTTTTAGAACATTCTGCACACAGACTCTAAAACCTAGCATCACTGCCTGATGAAGCTCAGAGTCTTTGAAGTCCAAN
|
pathogenic
| 306,607 |
The chromosome 19, position 45494914 genetic variant in gene RTN2 (reticulon 2): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Hereditary_spastic_paraplegia_12', 'Spastic_paraplegia']
|
CTCCCCGCAGCTGTTCTGGCCCGTCTGGCCCCTGAGTGACAGCGCTGCCTGGGGCCGAGGCTGGGGGAGGGGGTCCTCCCTGCTCCTGGGCCCCAAAGTGCTGGCTCGAAGGAGAAGGGACCCCATGCTCCCTCTGGGTCCTCCCTATACTGCCCCTCGGCCCCCTAGCCCCAGCCTGCAGCGCTGCGGAAGCAGATCAGTAATAAAAATGCTCCGGATGTGCAGGAGATAAGGGCGAGTTTGGACCCCGTTCCGCCGACCTCAGCCCCCGTCCAGCCCGTTCCGCAAGCCCACCTTTACTCCCCATATCGGCTCCGAGTGAGAGGCTGGGGACACCGCTGCTTCTCGGGGATTTTGCCCACTTCAGTAGAACCCGGAGGACAGGAGTAGGGGGGGTGGGGCCCCTTTGGACCCAGCCAATGGCTGTCCACAGAGGTGGGGACAATTCCAAAATTGGAACCGTCTTGTAAACAGCCAAAAGCAATGATGTCTTTAACCATTCCATAGCTGTTCCTGGAGGCGGAGCATATTTTAAAGTAAGGCTGGGTCATTTTACAACTGGCCAATAGATGTGGTCAGGAAAAAGAGGGTTTTTGTTTGTTTTTTCAAATAGAGATCGAGTCTCCCTATGTTGCCCAGGCTGGTCTTGCACTCTTGGCTTCAAAGGATCCTCCCGCCTCGGCCTCCCAAAGTGTTTAGGATTACAGGCATGAGCCACTGCGCCCGGCCAAAAAGAAGAGTTTTTAAAAGGCACAGAGTTTACTTATAAATATTCTACGGCCACATCTAAATAAGGAGAGAACTGTATTTTTTCAGGGATTTGGCCTGTCCAAAATCAGCCACTAGGAGGAGCACTCCAGAAGAGGGAGGATTATTTTATTTTATTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTTCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTACAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTCACCTCAAGTGATCCGCCCGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCGGGGAAATTTTTTTAAAAAGCGGAGTTTATCACGTCTAGCCAGATGTGATATCACGTCTATCTCTTCCCTTTTCCACTATGTACTGTTCCTTTGCGAGGTTGGTCCCTTTAATTCAAAATCCTCTCACCTTTTGCCTTCTGTGGGCCAATGCAGCATCTTCATACACGTTGCTTACCTAGAAGGCGTGGCTCCACCGTGAATTCTAATTGGTCCGTGCTATCGAGGCACTGTCCCCTTACTGGCTCTCGCTCCAGTGGCCCCCACTGCTTTTCTTCCTCTTCCAGCAATGGCTCTTCGGGCCCAGAGTTCGAATCTCGCGATCGGGATGGGGACGGAGTACCGGCCTGGGGTGTCCCAGAGCCCGGACTGAGCTGGGGAGTCAAGACCTCGGGCGATGAGGGCTGAGCAAGTCGGAGTCGTAGGTCCAGTTCTGATACGGTAGAGAGAGGAGGCCGTGAGCTTTCTTCTTGGAGGTGCCCCAAGGAGAAACCACCCACCCCTCTTGGCTTTGGTCCCAGCACCTCGGACATCTCACCTTCCCCAGCTTCTCCTGTCTCCAATCTGTTGGGTTCTTGGGGTTCTTCGTCTTCCAGCGGGGTGGAGCTGCTGGTGGAAGAGTCCTCCCCGGATCCCGTTCCCCGGGCCACCCAGCCCAGATGGTCCAACCGAAGCCTCAGGTCTTCCAGAGGGCGCTCGGATGGAGGCGCGGTGTCAGGATCACCCCGTCGTCCAGGCTCCGGGGATTGGCTCAGGCTGGGGATGCTCTCCAAGCTGTCGCCCAGGCTGGGCTGAGGGTGCTGGTCTCGTGGTTCCGAGACTGAGCGGCCCTGGGGGCGGGGGCGGCGGGCAGTTGAATCCCTGCGGCCCCCGGAGCCCACTACACCATCAAAGGCGATGTAGGAGAAGGTCAGCTCCCGGGGGGTGCCCCAGTCCTGCGACGTGGTCTCCTCCTCGTCCTCCTCTGAGAATTCCCGGGCTGTGTGCAGCTCTCGAAAATCAGAGTCGTCGTTCCCTCCTGCAGTGGGTGAAGGAGAGCCTTGTTTCCCTCAGCAGGTCCCTGAGCTGCCCAGCCCTGAGCCCCTTCACATGCTCCCCACCACTTACCTTCTGTGGAATCAGGAGTTGAGGAGGCTGTAGACGGAGCTTCTTCTGCGAGAGGGAAAGAATCGAAGACTCTTAGAAGCTTAGACTGTCCGAATCACAGAAGTGTCCCAGTCCTGGAATCTTAGAATATTTGAATCACGGGATTTTTAGAACATTCTGCACACAGACTCTAAAACCTAGCATCACTGCCTGATGAAGCTCAGAGTCTTTGAAGTCCAAATCCAGGAATCTTAATCTTAGAGTCTTCAAAGTAGGAATCTTAGGAGGTTTCAATTCATTCATTCGTTCAACAACCACTTATTGAGCACCTACTATGTGCCAGGCACTGTTCTAGGTCCTGGGGATACAGCTGTGAAGAAAACAGACAAAATCCCTGCCCTCCTAGAGCTGACACTCTTTGGGATAGACAAACAATAAACAAGTGAATATATGACGTCGGGTGCAGATGAGCATAGGGAGCAAAGTAAAGAAGGGTAGGGGAAGAGAAAGTGAAGGGGTGCTGTTTCTCATAGGGTGGTCAAGAAGGCTTCTCTGATAAGATGACGTTTGAGCAGAGATCTGAAGGAAGTGAGGAAGCCATGCAGATGTTCAGGGACGTCTTCCAGGTAGAGAAGAAAGCCAGTGCAAAGGCCCTGAGCCAGGCACCATGCTTGGCATCTGAGGAACTGAGAGGTGCGAAGATATGACTGGAGAAGAGTGACTGAGGAGGAGAGGAGTGGGAGGTGAGAACAGAGAGGTAAGGGCGGTGGGGAGAGACAGACGAGGTGGTCCTCCCTTTGTAATCTGAAGTTAACGACAAGATCATAGAATGTTGGGATGATACTCGAAAATGCTGAAATCACCAATTCTTAGAATTTTGGCATCTGGACACGCGAGACATGGAAATGGCTAGATCTAAGGGTGTTGAAATCCCCAGCTGTCAGAACCCCCATGTGTGGGACAGAGAACGGTAGACATGGACTGTTATAGCTGTGAGCTCAGAGATTGTGAGGCTAGGCGTTTTCAGCTGGGAATCCAGCCCCTTAGAGCTAGTTCAGAGCTTTGCACATAGATGATGCTCAATGCGGTTTGGAAATTGAAATCTGACGCCCTGTGCCCTCACCTCGTTTCCTCAGCTGGGGAATAGGAGGCCTGGAATGGTGTGGGTCTTCCCCAGGATTACCATTAACCAGTGGTAAAGACCGCTAAGAACCCATGAGTCCTTGCCCCCAAACCACGGATGGCTGTTTTCCCGGGACAGGGTTGGACAGTTTGGGCGAGGTCGGGGCTGCCTCTTGGACAGAAAACGGGGATGGGATGCGAAGGCAAGTGATTGGGAGCCAGACCCCTGTTTTCCATCCTGGCTCTACCCTCCGTTCAACCCCCTCCCCGCCAGCTGCGGCCAGCACCAGAGCCAGGGGACAGCTCCCCGCGCGCGTCCTCGCTCCCGGGCGGGGCCGGGCGGTACGTCCCAGAGCGCAGCGCGCCCCCCGCCTGCTGTCTCAGTGCCCCCTCACCTCCGCCCTGTTTCGTCCAGGTCCTCCGGGTCAGGCTACCCCCGTCGCCGCCAGAGCGCGGGGGAGGGGAGAGCTTCCTTTGTCTCCTATGCCTCCTCCCCCCATCCCGGCTCTCCTGCGGGCAAGCGCCGAGGGGACACCGGGGAGTACCCCACCTGAACCTCTGGGGCCCACACCAGGCCCCAGTCTTCCTCTACTCACTGCAGTGGGCGAAGACCGGCAGGACCTGCCCCATGGCCCCCCTCGGGCCTGCATCGGGACCCCCGCCCACTCCGGCTGTGCCGCCCTGGGCCCGGGGTCGCGGGCGCTCATCTCCGCCGCGCCCACGACGCCGCTGCCATTCTCGCCGCCTCCTCCTCCCGGGCTGCTCC
|
CTCCCCGCAGCTGTTCTGGCCCGTCTGGCCCCTGAGTGACAGCGCTGCCTGGGGCCGAGGCTGGGGGAGGGGGTCCTCCCTGCTCCTGGGCCCCAAAGTGCTGGCTCGAAGGAGAAGGGACCCCATGCTCCCTCTGGGTCCTCCCTATACTGCCCCTCGGCCCCCTAGCCCCAGCCTGCAGCGCTGCGGAAGCAGATCAGTAATAAAAATGCTCCGGATGTGCAGGAGATAAGGGCGAGTTTGGACCCCGTTCCGCCGACCTCAGCCCCCGTCCAGCCCGTTCCGCAAGCCCACCTTTACTCCCCATATCGGCTCCGAGTGAGAGGCTGGGGACACCGCTGCTTCTCGGGGATTTTGCCCACTTCAGTAGAACCCGGAGGACAGGAGTAGGGGGGGTGGGGCCCCTTTGGACCCAGCCAATGGCTGTCCACAGAGGTGGGGACAATTCCAAAATTGGAACCGTCTTGTAAACAGCCAAAAGCAATGATGTCTTTAACCATTCCATAGCTGTTCCTGGAGGCGGAGCATATTTTAAAGTAAGGCTGGGTCATTTTACAACTGGCCAATAGATGTGGTCAGGAAAAAGAGGGTTTTTGTTTGTTTTTTCAAATAGAGATCGAGTCTCCCTATGTTGCCCAGGCTGGTCTTGCACTCTTGGCTTCAAAGGATCCTCCCGCCTCGGCCTCCCAAAGTGTTTAGGATTACAGGCATGAGCCACTGCGCCCGGCCAAAAAGAAGAGTTTTTAAAAGGCACAGAGTTTACTTATAAATATTCTACGGCCACATCTAAATAAGGAGAGAACTGTATTTTTTCAGGGATTTGGCCTGTCCAAAATCAGCCACTAGGAGGAGCACTCCAGAAGAGGGAGGATTATTTTATTTTATTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTTCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTACAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTCACCTCAAGTGATCCGCCCGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCGGGGAAATTTTTTTAAAAAGCGGAGTTTATCACGTCTAGCCAGATGTGATATCACGTCTATCTCTTCCCTTTTCCACTATGTACTGTTCCTTTGCGAGGTTGGTCCCTTTAATTCAAAATCCTCTCACCTTTTGCCTTCTGTGGGCCAATGCAGCATCTTCATACACGTTGCTTACCTAGAAGGCGTGGCTCCACCGTGAATTCTAATTGGTCCGTGCTATCGAGGCACTGTCCCCTTACTGGCTCTCGCTCCAGTGGCCCCCACTGCTTTTCTTCCTCTTCCAGCAATGGCTCTTCGGGCCCAGAGTTCGAATCTCGCGATCGGGATGGGGACGGAGTACCGGCCTGGGGTGTCCCAGAGCCCGGACTGAGCTGGGGAGTCAAGACCTCGGGCGATGAGGGCTGAGCAAGTCGGAGTCGTAGGTCCAGTTCTGATACGGTAGAGAGAGGAGGCCGTGAGCTTTCTTCTTGGAGGTGCCCCAAGGAGAAACCACCCACCCCTCTTGGCTTTGGTCCCAGCACCTCGGACATCTCACCTTCCCCAGCTTCTCCTGTCTCCAATCTGTTGGGTTCTTGGGGTTCTTCGTCTTCCAGCGGGGTGGAGCTGCTGGTGGAAGAGTCCTCCCCGGATCCCGTTCCCCGGGCCACCCAGCCCAGATGGTCCAACCGAAGCCTCAGGTCTTCCAGAGGGCGCTCGGATGGAGGCGCGGTGTCAGGATCACCCCGTCGTCCAGGCTCCGGGGATTGGCTCAGGCTGGGGATGCTCTCCAAGCTGTCGCCCAGGCTGGGCTGAGGGTGCTGGTCTCGTGGTTCCGAGACTGAGCGGCCCTGGGGGCGGGGGCGGCGGGCAGTTGAATCCCTGCGGCCCCCGGAGCCCACTACACCATCAAAGGCGATGTAGGAGAAGGTCAGCTCCCGGGGGGTGCCCAGTCCTGCGACGTGGTCTCCTCCTCGTCCTCCTCTGAGAATTCCCGGGCTGTGTGCAGCTCTCGAAAATCAGAGTCGTCGTTCCCTCCTGCAGTGGGTGAAGGAGAGCCTTGTTTCCCTCAGCAGGTCCCTGAGCTGCCCAGCCCTGAGCCCCTTCACATGCTCCCCACCACTTACCTTCTGTGGAATCAGGAGTTGAGGAGGCTGTAGACGGAGCTTCTTCTGCGAGAGGGAAAGAATCGAAGACTCTTAGAAGCTTAGACTGTCCGAATCACAGAAGTGTCCCAGTCCTGGAATCTTAGAATATTTGAATCACGGGATTTTTAGAACATTCTGCACACAGACTCTAAAACCTAGCATCACTGCCTGATGAAGCTCAGAGTCTTTGAAGTCCAAATCCAGGAATCTTAATCTTAGAGTCTTCAAAGTAGGAATCTTAGGAGGTTTCAATTCATTCATTCGTTCAACAACCACTTATTGAGCACCTACTATGTGCCAGGCACTGTTCTAGGTCCTGGGGATACAGCTGTGAAGAAAACAGACAAAATCCCTGCCCTCCTAGAGCTGACACTCTTTGGGATAGACAAACAATAAACAAGTGAATATATGACGTCGGGTGCAGATGAGCATAGGGAGCAAAGTAAAGAAGGGTAGGGGAAGAGAAAGTGAAGGGGTGCTGTTTCTCATAGGGTGGTCAAGAAGGCTTCTCTGATAAGATGACGTTTGAGCAGAGATCTGAAGGAAGTGAGGAAGCCATGCAGATGTTCAGGGACGTCTTCCAGGTAGAGAAGAAAGCCAGTGCAAAGGCCCTGAGCCAGGCACCATGCTTGGCATCTGAGGAACTGAGAGGTGCGAAGATATGACTGGAGAAGAGTGACTGAGGAGGAGAGGAGTGGGAGGTGAGAACAGAGAGGTAAGGGCGGTGGGGAGAGACAGACGAGGTGGTCCTCCCTTTGTAATCTGAAGTTAACGACAAGATCATAGAATGTTGGGATGATACTCGAAAATGCTGAAATCACCAATTCTTAGAATTTTGGCATCTGGACACGCGAGACATGGAAATGGCTAGATCTAAGGGTGTTGAAATCCCCAGCTGTCAGAACCCCCATGTGTGGGACAGAGAACGGTAGACATGGACTGTTATAGCTGTGAGCTCAGAGATTGTGAGGCTAGGCGTTTTCAGCTGGGAATCCAGCCCCTTAGAGCTAGTTCAGAGCTTTGCACATAGATGATGCTCAATGCGGTTTGGAAATTGAAATCTGACGCCCTGTGCCCTCACCTCGTTTCCTCAGCTGGGGAATAGGAGGCCTGGAATGGTGTGGGTCTTCCCCAGGATTACCATTAACCAGTGGTAAAGACCGCTAAGAACCCATGAGTCCTTGCCCCCAAACCACGGATGGCTGTTTTCCCGGGACAGGGTTGGACAGTTTGGGCGAGGTCGGGGCTGCCTCTTGGACAGAAAACGGGGATGGGATGCGAAGGCAAGTGATTGGGAGCCAGACCCCTGTTTTCCATCCTGGCTCTACCCTCCGTTCAACCCCCTCCCCGCCAGCTGCGGCCAGCACCAGAGCCAGGGGACAGCTCCCCGCGCGCGTCCTCGCTCCCGGGCGGGGCCGGGCGGTACGTCCCAGAGCGCAGCGCGCCCCCCGCCTGCTGTCTCAGTGCCCCCTCACCTCCGCCCTGTTTCGTCCAGGTCCTCCGGGTCAGGCTACCCCCGTCGCCGCCAGAGCGCGGGGGAGGGGAGAGCTTCCTTTGTCTCCTATGCCTCCTCCCCCCATCCCGGCTCTCCTGCGGGCAAGCGCCGAGGGGACACCGGGGAGTACCCCACCTGAACCTCTGGGGCCCACACCAGGCCCCAGTCTTCCTCTACTCACTGCAGTGGGCGAAGACCGGCAGGACCTGCCCCATGGCCCCCCTCGGGCCTGCATCGGGACCCCCGCCCACTCCGGCTGTGCCGCCCTGGGCCCGGGGTCGCGGGCGCTCATCTCCGCCGCGCCCACGACGCCGCTGCCATTCTCGCCGCCTCCTCCTCCCGGGCTGCTCCN
|
pathogenic
| 306,619 |
Evaluate this variant at chromosome 19, position 45496962, gene RTN2: benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
benign
|
GCCCCAGTCCTGCGACGTGGTCTCCTCCTCGTCCTCCTCTGAGAATTCCCGGGCTGTGTGCAGCTCTCGAAAATCAGAGTCGTCGTTCCCTCCTGCAGTGGGTGAAGGAGAGCCTTGTTTCCCTCAGCAGGTCCCTGAGCTGCCCAGCCCTGAGCCCCTTCACATGCTCCCCACCACTTACCTTCTGTGGAATCAGGAGTTGAGGAGGCTGTAGACGGAGCTTCTTCTGCGAGAGGGAAAGAATCGAAGACTCTTAGAAGCTTAGACTGTCCGAATCACAGAAGTGTCCCAGTCCTGGAATCTTAGAATATTTGAATCACGGGATTTTTAGAACATTCTGCACACAGACTCTAAAACCTAGCATCACTGCCTGATGAAGCTCAGAGTCTTTGAAGTCCAAATCCAGGAATCTTAATCTTAGAGTCTTCAAAGTAGGAATCTTAGGAGGTTTCAATTCATTCATTCGTTCAACAACCACTTATTGAGCACCTACTATGTGCCAGGCACTGTTCTAGGTCCTGGGGATACAGCTGTGAAGAAAACAGACAAAATCCCTGCCCTCCTAGAGCTGACACTCTTTGGGATAGACAAACAATAAACAAGTGAATATATGACGTCGGGTGCAGATGAGCATAGGGAGCAAAGTAAAGAAGGGTAGGGGAAGAGAAAGTGAAGGGGTGCTGTTTCTCATAGGGTGGTCAAGAAGGCTTCTCTGATAAGATGACGTTTGAGCAGAGATCTGAAGGAAGTGAGGAAGCCATGCAGATGTTCAGGGACGTCTTCCAGGTAGAGAAGAAAGCCAGTGCAAAGGCCCTGAGCCAGGCACCATGCTTGGCATCTGAGGAACTGAGAGGTGCGAAGATATGACTGGAGAAGAGTGACTGAGGAGGAGAGGAGTGGGAGGTGAGAACAGAGAGGTAAGGGCGGTGGGGAGAGACAGACGAGGTGGTCCTCCCTTTGTAATCTGAAGTTAACGACAAGATCATAGAATGTTGGGATGATACTCGAAAATGCTGAAATCACCAATTCTTAGAATTTTGGCATCTGGACACGCGAGACATGGAAATGGCTAGATCTAAGGGTGTTGAAATCCCCAGCTGTCAGAACCCCCATGTGTGGGACAGAGAACGGTAGACATGGACTGTTATAGCTGTGAGCTCAGAGATTGTGAGGCTAGGCGTTTTCAGCTGGGAATCCAGCCCCTTAGAGCTAGTTCAGAGCTTTGCACATAGATGATGCTCAATGCGGTTTGGAAATTGAAATCTGACGCCCTGTGCCCTCACCTCGTTTCCTCAGCTGGGGAATAGGAGGCCTGGAATGGTGTGGGTCTTCCCCAGGATTACCATTAACCAGTGGTAAAGACCGCTAAGAACCCATGAGTCCTTGCCCCCAAACCACGGATGGCTGTTTTCCCGGGACAGGGTTGGACAGTTTGGGCGAGGTCGGGGCTGCCTCTTGGACAGAAAACGGGGATGGGATGCGAAGGCAAGTGATTGGGAGCCAGACCCCTGTTTTCCATCCTGGCTCTACCCTCCGTTCAACCCCCTCCCCGCCAGCTGCGGCCAGCACCAGAGCCAGGGGACAGCTCCCCGCGCGCGTCCTCGCTCCCGGGCGGGGCCGGGCGGTACGTCCCAGAGCGCAGCGCGCCCCCCGCCTGCTGTCTCAGTGCCCCCTCACCTCCGCCCTGTTTCGTCCAGGTCCTCCGGGTCAGGCTACCCCCGTCGCCGCCAGAGCGCGGGGGAGGGGAGAGCTTCCTTTGTCTCCTATGCCTCCTCCCCCCATCCCGGCTCTCCTGCGGGCAAGCGCCGAGGGGACACCGGGGAGTACCCCACCTGAACCTCTGGGGCCCACACCAGGCCCCAGTCTTCCTCTACTCACTGCAGTGGGCGAAGACCGGCAGGACCTGCCCCATGGCCCCCCTCGGGCCTGCATCGGGACCCCCGCCCACTCCGGCTGTGCCGCCCTGGGCCCGGGGTCGCGGGCGCTCATCTCCGCCGCGCCCACGACGCCGCTGCCATTCTCGCCGCCTCCTCCTCCCGGGCTGCTCCAGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCCTGGTGCTCGGCTCGGCGGGGGCGGGCGGGGCCGAGGTGGGGAAGGCACTGCAGCGCGCGGCCGGGGGCGGGGCCAGAAGACGGGCGGGGCGGTACCAGAGGGAGGGTGAGGGGCGGGGAAACGCCGAGGATCAGGCGGAGGGGCGTGGCCTTCTTACTAAAGGGGCGGAACCAAGAGGGTGGGCTACGGAGCCAGGAAGGAGGGGAAAGCGGCCTGAAGGGCGGGGCCTAGATCGCAGAGGGCGCAGCCTTTAGGGGAAGAGGGAAGGAGGCCTGGAGTCTGGCGAGGGACTTGGGAGAGGATGGTGAACGAGCCACGGCAGAGAGGATGAGAGCGTGGATCCCTGGGTGGGTTGGGGTGGTGCTCGGGGTGCCATTGAGGAGGGGGTGGAAAGATTCTAATGCTCTGAGGTAGGGTCCGAGCCTAGATTTGCAGAGGGAGCGAGAAAGGGGGCCGAATGAAACGATTCAGAAACTTTTGGGGCACGCGGAGGAGCTCAAACGTGGGCAGGGCTAAAGCAACAGGGAATTATTCAAATATAACTGGGTGGGGTCGGATTCCAGGCGATTCCAGGTCTGCGAAAATTAGAAGGGTCTGGAGCTGTGTGCCTGAATCCTGGATGGGCGGGGCCTGGAAGAGAAAATAAGCGAAGCCCCAGAGGGGAGGGGTCGAACTAAAAACAGTAAAGAAAAAAAAAATATGTATATATATATATATATATATATATATATATATATATATATATCTTTTTGAGACAGGGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGATACGATCACGGCTCACTGCAGCCTCGACCTCCCGGGCTCAGGTGATCCTCCCACCTAAGCCTCCTGAGTAGCTGGGATCACAGGTGTGTTCCACCGCGCCTGGCTAAATGTTAATTTTTGTAGAGACGGGGTCTCGCTATGTTTCCCAGGCTGGTCTCAAACTCCTGGGCTTAAGCGATCCGCCTGCCTCGGCCTCCCTAAGTGCTGGGGTTATAGGCGTGAGCCACCGCGCCCGGCCAAGTATGGTATTTACAGGTTTTGAGGCTGGGGGCTGTACCACTGAGGTGGGAGGAGCTTGGACTGAGTGTTGTGTTGAGAACACAGATTCTAGAATTAGTTTCCCTGGAACACCGGTTACTTCTGTGACTCTGTTTCTTCTTCCATATGTAAACTGGAGATGATGATGTATAACAGTGTGTGACACATTAGTACTATGTAATAGTTTGCCACTGGTACAGTATTATCTTTTTTCTTTTTTTTTCCTGATTCAGATCCCAAACCCCGCTTTGTAGGTGCAGGAAACAGGAGACCCAGAAGTGTAATTCCTTCTAGTGACCCGCCTAAAGAGCAGGTCAAAGGACAGGAAGGAGATTTAGATGGTTTAAAATCTCACAGCGGAGGGGATTAATGGAGGGGGCGGGCAGGTGTACAGGGTGGAGCCTTCCTGATCCCAGGGCTGAAGGATGGCGGTCCTGGCCCGCCAGCTGCAGCGTCTCCTCTGGACCGCTTGCAAGAAAAAGGAGAGGGAGAAGGAGGGGAGGGAGGAAGAGGAGGAGGAGGAGGCGGGGCGCAGGGCCCCCGAAGGGCCTCGGTCTCTGTTGACAGCGCCGCGCCGCGCCCAGCGGCCGCACGGGGGTGCCGAGGCGTCTGGGGGCCTGCGCTTCGGGGCGAGCGCAGCGCAAGGCTGGCGCGCGCGCATGGAGGATGCTCACTGCACTTGGCTTTCGTTACCTGGTCTGCCCCCGGGCTGGGCCTTGTTTGCCGTCCTCGACGGCCACGGTGGGGCTCGAGCTGCCCGCTTCGGTGCACGCCATTTGCCAGGCCATGTGCTCCAGGAGCTGGGCCCGGAGCCTAGCGAGCCCGAGGGCGTGCGCGAGGCGCTGCGCCGAGCCTTCTTGAGCGCCGACGAGCGCCTGCGCTCCCTCTGGCCCCGCGTGGAAACGGGCGGCTGCACGGCCGTGGTGTTGCTGGTCTCCCCGCGGTTTCTGTACCTGGCGCAC
|
GCCCCAGTCCTGCGACGTGGTCTCCTCCTCGTCCTCCTCTGAGAATTCCCGGGCTGTGTGCAGCTCTCGAAAATCAGAGTCGTCGTTCCCTCCTGCAGTGGGTGAAGGAGAGCCTTGTTTCCCTCAGCAGGTCCCTGAGCTGCCCAGCCCTGAGCCCCTTCACATGCTCCCCACCACTTACCTTCTGTGGAATCAGGAGTTGAGGAGGCTGTAGACGGAGCTTCTTCTGCGAGAGGGAAAGAATCGAAGACTCTTAGAAGCTTAGACTGTCCGAATCACAGAAGTGTCCCAGTCCTGGAATCTTAGAATATTTGAATCACGGGATTTTTAGAACATTCTGCACACAGACTCTAAAACCTAGCATCACTGCCTGATGAAGCTCAGAGTCTTTGAAGTCCAAATCCAGGAATCTTAATCTTAGAGTCTTCAAAGTAGGAATCTTAGGAGGTTTCAATTCATTCATTCGTTCAACAACCACTTATTGAGCACCTACTATGTGCCAGGCACTGTTCTAGGTCCTGGGGATACAGCTGTGAAGAAAACAGACAAAATCCCTGCCCTCCTAGAGCTGACACTCTTTGGGATAGACAAACAATAAACAAGTGAATATATGACGTCGGGTGCAGATGAGCATAGGGAGCAAAGTAAAGAAGGGTAGGGGAAGAGAAAGTGAAGGGGTGCTGTTTCTCATAGGGTGGTCAAGAAGGCTTCTCTGATAAGATGACGTTTGAGCAGAGATCTGAAGGAAGTGAGGAAGCCATGCAGATGTTCAGGGACGTCTTCCAGGTAGAGAAGAAAGCCAGTGCAAAGGCCCTGAGCCAGGCACCATGCTTGGCATCTGAGGAACTGAGAGGTGCGAAGATATGACTGGAGAAGAGTGACTGAGGAGGAGAGGAGTGGGAGGTGAGAACAGAGAGGTAAGGGCGGTGGGGAGAGACAGACGAGGTGGTCCTCCCTTTGTAATCTGAAGTTAACGACAAGATCATAGAATGTTGGGATGATACTCGAAAATGCTGAAATCACCAATTCTTAGAATTTTGGCATCTGGACACGCGAGACATGGAAATGGCTAGATCTAAGGGTGTTGAAATCCCCAGCTGTCAGAACCCCCATGTGTGGGACAGAGAACGGTAGACATGGACTGTTATAGCTGTGAGCTCAGAGATTGTGAGGCTAGGCGTTTTCAGCTGGGAATCCAGCCCCTTAGAGCTAGTTCAGAGCTTTGCACATAGATGATGCTCAATGCGGTTTGGAAATTGAAATCTGACGCCCTGTGCCCTCACCTCGTTTCCTCAGCTGGGGAATAGGAGGCCTGGAATGGTGTGGGTCTTCCCCAGGATTACCATTAACCAGTGGTAAAGACCGCTAAGAACCCATGAGTCCTTGCCCCCAAACCACGGATGGCTGTTTTCCCGGGACAGGGTTGGACAGTTTGGGCGAGGTCGGGGCTGCCTCTTGGACAGAAAACGGGGATGGGATGCGAAGGCAAGTGATTGGGAGCCAGACCCCTGTTTTCCATCCTGGCTCTACCCTCCGTTCAACCCCCTCCCCGCCAGCTGCGGCCAGCACCAGAGCCAGGGGACAGCTCCCCGCGCGCGTCCTCGCTCCCGGGCGGGGCCGGGCGGTACGTCCCAGAGCGCAGCGCGCCCCCCGCCTGCTGTCTCAGTGCCCCCTCACCTCCGCCCTGTTTCGTCCAGGTCCTCCGGGTCAGGCTACCCCCGTCGCCGCCAGAGCGCGGGGGAGGGGAGAGCTTCCTTTGTCTCCTATGCCTCCTCCCCCCATCCCGGCTCTCCTGCGGGCAAGCGCCGAGGGGACACCGGGGAGTACCCCACCTGAACCTCTGGGGCCCACACCAGGCCCCAGTCTTCCTCTACTCACTGCAGTGGGCGAAGACCGGCAGGACCTGCCCCATGGCCCCCCTCGGGCCTGCATCGGGACCCCCGCCCACTCCGGCTGTGCCGCCCTGGGCCCGGGGTCGCGGGCGCTCATCTCCGCCGCGCCCACGACGCCGCTGCCATTCTCGCCGCCTCCTCCTCCCGGGCTGCTCCAGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCCTGGTGCTCGGCTCGGCGGGGGCGGGCGGGGCCGAGGTGGGGAAGGCACTGCAGCGCGCGGCCGGGGGCGGGGCCAGAAGACGGGCGGGGCGGTACCAGAGGGAGGGTGAGGGGCGGGGAAACGCCGAGGATCAGGCGGAGGGGCGTGGCCTTCTTACTAAAGGGGCGGAACCAAGAGGGTGGGCTACGGAGCCAGGAAGGAGGGGAAAGCGGCCTGAAGGGCGGGGCCTAGATCGCAGAGGGCGCAGCCTTTAGGGGAAGAGGGAAGGAGGCCTGGAGTCTGGCGAGGGACTTGGGAGAGGATGGTGAACGAGCCACGGCAGAGAGGATGAGAGCGTGGATCCCTGGGTGGGTTGGGGTGGTGCTCGGGGTGCCATTGAGGAGGGGGTGGAAAGATTCTAATGCTCTGAGGTAGGGTCCGAGCCTAGATTTGCAGAGGGAGCGAGAAAGGGGGCCGAATGAAACGATTCAGAAACTTTTGGGGCACGCGGAGGAGCTCAAACGTGGGCAGGGCTAAAGCAACAGGGAATTATTCAAATATAACTGGGTGGGGTCGGATTCCAGGCGATTCCAGGTCTGCGAAAATTAGAAGGGTCTGGAGCTGTGTGCCTGAATCCTGGATGGGCGGGGCCTGGAAGAGAAAATAAGCGAAGCCCCAGAGGGGAGGGGTCGAACTAAAAACAGTAAAGAAAAAAAAAATATGTATATATATATATATATATATATATATATATATATATATATATCTTTTTGAGACAGGGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGATACGATCACGGCTCACTGCAGCCTCGACCTCCCGGGCTCAGGTGATCCTCCCACCTAAGCCTCCTGAGTAGCTGGGATCACAGGTGTGTTCCACCGCGCCTGGCTAAATGTTAATTTTTGTAGAGACGGGGTCTCGCTATGTTTCCCAGGCTGGTCTCAAACTCCTGGGCTTAAGCGATCCGCCTGCCTCGGCCTCCCTAAGTGCTGGGGTTATAGGCGTGAGCCACCGCGCCCGGCCAAGTATGGTATTTACAGGTTTTGAGGCTGGGGGCTGTACCACTGAGGTGGGAGGAGCTTGGACTGAGTGTTGTGTTGAGAACACAGATTCTAGAATTAGTTTCCCTGGAACACCGGTTACTTCTGTGACTCTGTTTCTTCTTCCATATGTAAACTGGAGATGATGATGTATAACAGTGTGTGACACATTAGTACTATGTAATAGTTTGCCACTGGTACAGTATTATCTTTTTTCTTTTTTTTTCCTGATTCAGATCCCAAACCCCGCTTTGTAGGTGCAGGAAACAGGAGACCCAGAAGTGTAATTCCTTCTAGTGACCCGCCTAAAGAGCAGGTCAAAGGACAGGAAGGAGATTTAGATGGTTTAAAATCTCACAGCGGAGGGGATTAATGGAGGGGGCGGGCAGGTGTACAGGGTGGAGCCTTCCTGATCCCAGGGCTGAAGGATGGCGGTCCTGGCCCGCCAGCTGCAGCGTCTCCTCTGGACCGCTTGCAAGAAAAAGGAGAGGGAGAAGGAGGGGAGGGAGGAAGAGGAGGAGGAGGAGGCGGGGCGCAGGGCCCCCGAAGGGCCTCGGTCTCTGTTGACAGCGCCGCGCCGCGCCCAGCGGCCGCACGGGGGTGCCGAGGCGTCTGGGGGCCTGCGCTTCGGGGCGAGCGCAGCGCAAGGCTGGCGCGCGCGCATGGAGGATGCTCACTGCACTTGGCTTTCGTTACCTGGTCTGCCCCCGGGCTGGGCCTTGTTTGCCGTCCTCGACGGCCACGGTGGGGCTCGAGCTGCCCGCTTCGGTGCACGCCATTTGCCAGGCCATGTGCTCCAGGAGCTGGGCCCGGAGCCTAGCGAGCCCGAGGGCGTGCGCGAGGCGCTGCGCCGAGCCTTCTTGAGCGCCGACGAGCGCCTGCGCTCCCTCTGGCCCCGCGTGGAAACGGGCGGCTGCACGGCCGTGGTGTTGCTGGTCTCCCCGCGGTTT
|
benign
| 306,624 |
A mutation at chromosome position 45547408 on chromosome 19 in gene OPA3 (outer mitochondrial membrane lipid metabolism regulator OPA3): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
benign
|
TCTCTACAAAAAATTAAGAAATTAGCTGAGTGTAGTGGTGGCACACCTCTATTCCCAGCTACTCTGGAGGCTGACATGGGAGGATTGCTTGAGCCTGGGAGGCTGAGGCTGCAGTGAGCCGTGATTGCACCACCGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCCAAAATGAAACAAACAAATGGAAAAAACAACAACAACAACCAGAGGCTGAGCACAGTGGCTCACACCTGTAATCCCAGCTTAAAAATCTCTTCCCAGAGTAAAAGTTAGTCTTCATGCTGGCCCAAGGCAGCCCACATTATACAGGTTTGTATAATACATACATCATATGTACATGCTTTTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGTCTCCTGGGTTCAAGTAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACTGGTGTGTGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGATTAAGCAATCCTCCCACCTCGGCCTCCCTAAATGCTGGGATTACAGGTGTGACAGGCCATGCTTTTCTTTAAGAAATAAAATAACGGAGAATAAAAAGTAACGAAGTTGCCCATCACACATAAGAACAATTATTATTCAGAGAAACTTGTTCTAACAAGACATATAATACATAATGTATGATATTAACATATCATCCAATGTGTTATGGAACACACTTAATGGGTTTCATATGTTTATAATATATATTAAGTATATAGAATGCATATATATCTGTAGTTATTCTTCATGAAATGGAATACAATAAAATAGGAAATATTAAACCGGGCTGCAAATATTAAGGGTAATTATTTAATGAAACTTTCATTCCAATGATATGTACATAAGCACATACACTACATATAATAGATGATGTTATGTTACACATGACATAAAATATATATTTTATATTCCATTATATATTGTGTCACATAATATATGAATTATACACTTTTAAAATACATAGAATTGTAAATTATTGTATAAATATGCACACGATGGATTACATAAACTCTGCTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCTCCCAGGTTGAGGTGCTGTGGCCTGATCTCAGTTCACTGCAGCCTTAAACACCCGGGTTCAAGCGATCCTCCTGCCTCAGCCCCCCAAGTAGCTGGGACTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTTGTTTTGTTTTGTTTTGAGACCAAGTCTCACTCTGGCACCTAGGCTGGAATGCAGTAGTGCAATCTTGGCTCACTGCAACGTCCACCTCCTGGGCTCAAGCAATTCTCCTATGTCAGCCTCTCATGTAGCTGGGATTACAGATGTGCACCACCACACCCGGCTAATTTTTGTATTCTTTTTATTAGAGACGGGGCTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCTCCCACCTTGGTCTTCCAAAGTACTGAGATTACAGGCGTGAGCCACCGCGCCTGGCCTAAAACTCTGCTTCTTATTGTGGCACGTGGCTGTAGATTGAGGTGGAGGTTCTGAGATCTGCGCGCAGTGGGGGTTACTGCTGAGCACTGGGGTCATTTCCTATGGGGAAGGAGGGAGGGAGGGAGGACTCCACAGAGGGGGAAGCTGAAGCCAGATGTGGTGGAAGCAGAGGCCTGAGTGATCCTGTTGGGGCTCCAGAGCTGGGATGACCTCCACAGTTGTGCCAATCAAGGCAAGGGGCAGCCTTTGCTTGCCTGGCCCCCTCACCTAACTTCTCCCCTCGCTTACTCTATTCCAGGGGATGGTAAACTTTTTCTGTAAAGGGCCAGAGAGTACGAGAGCCCTAGGATCTCTGTGCAAATACTCAGCTCTGTCACTGTACTGCAAAAGCAACTGTGGAAAATATGCAAACGAATGAGCGCCTGGGTTCCAATAAGTCTTTATTTACAAAGACAGGAAGCAAGGGTCCCCTTGATTTGGCCCAAAGGCCTTGGTCAGCGAGCCTCTGCTCTATTCTGACAGCCAGAAACTCTTGCTGTTCCAGGAACAGGCCAAGGCCACATCTGTCCTAGGACTTTCACAGATACTCACAGCCCTCTTCCTATCTCCCTCCATCTGAAGCGCTGCCTCCTCCCTGCCCACCTGTCTAGATCAGCGGTGCCCGTAAGTCCGGAACTCCTACCCTGCCTCCATTCCTCTCAGTCCTCATCACCCTATGCTGGATTAGCTTTTTCCTTTTTTTTTTGAGATGGAGTCTCGTTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATATTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCACAGCCTCCTGAGTGGCTGGGATTACAGGCATGCACCACCATGCCCTGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTCGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGGGATTGGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCACGCCTGGCCACTCTTTCCTTCTTTATTGCCGGTCTCTGGCACTAGAATGTCAGCTCCAGTGAGGGCCTCTGCTTGCTCCCAACTGGCTCCCAGCTACTAGAATGGAGCCTGGTGCAGTTGATCCTCAGTACACTCAGAGTTGCCATGCTTCTCCTCTCTCTGTCCACACCGACTCCAGCTACAAGCCATTGCCACTGGGGGACCCAAGCCTGCCACTCAGCAACACAGCGACCAGCCCAGGAGTAGCTCCGTGAGCCAATAGATCAGGTTGGGGCTTATGTAAAGCCCATTTTCTCCTGGGGTGGCTCTCAGCCATTTTGCCTCCCTCCAGGCAATGGCCTGCCCTACAGAGAAACCAACAAGAGGGACAGCAGGGCCTGCCAGGAGATGGGAGGGGCACAGCCCTCAGGGCACCTCCCAGGGTTTTGTGAGCTGGGATGAATGGGTTTATAGTCCTGAGTCACTCCAGAGGGAGGATTCCGGATTCAGCCCAGCCCCTGCTTCCTAAACAACTATGGGGTGGGGCAGGGAACACTGGAAAAGAAATGTACGTGTGAGCATCTGTAAGACCCGGTGACGGCAGGGCTGGGGCTGTCTCTGTCACCACTGTGACCCCAGCATAGGGTGGGGCAGAGAGTGGGTAACTCAGTGAGTTTTGTGTTTTATTTTTTTTATTTTTTTTTTTTTTGCGGGAGACGCCCTACCAAGGACACTGGGTCCATGTCCCGGTGCGGGACCACCTCAGTGAGTTTTTTGAGTGAAAGAATAAATAAAGGATATTTTTCCTAAGGTTGACATGGACCTTATTTATTTATTTATTTATTTATTTATTTAGAGATGAAGTCTCGCTCTGTCACCCAGGCTGGAGTATAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTCCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATTACAGGTGCACAACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGATCAGGTTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCCTGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCCAGTCCCAAGGACTTTTTAAATATGAAAAAAGAATGCATCAACTTGAAGATAATCAGCTTCATTTACAAATTTATTCTAACCCCTCTCCCCAAATTACAAGGTACACAGAATTCTAGCTAGCAGAACACACGAGCAGTGAACCATCCTCTGGCCTCTTGCATTTTGAGAGGACGTTCTTTCCACTTCCACACACTCTGGCCACCCCTGACGCCGCAGTGGGGGAAGTAGATGGCCCTGCTGCCCACGATGACTGGCTGCCTGTCAGGGCAGGGCAGGGCAGGGCTGAGTGCGAAGTCTCTGAGATGTGAGAGCAGCACTCCATCTGGGTCAGGACAGCGCTGGGGTCAGGAATTGG
|
TCTCTACAAAAAATTAAGAAATTAGCTGAGTGTAGTGGTGGCACACCTCTATTCCCAGCTACTCTGGAGGCTGACATGGGAGGATTGCTTGAGCCTGGGAGGCTGAGGCTGCAGTGAGCCGTGATTGCACCACCGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCCAAAATGAAACAAACAAATGGAAAAAACAACAACAACAACCAGAGGCTGAGCACAGTGGCTCACACCTGTAATCCCAGCTTAAAAATCTCTTCCCAGAGTAAAAGTTAGTCTTCATGCTGGCCCAAGGCAGCCCACATTATACAGGTTTGTATAATACATACATCATATGTACATGCTTTTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGTCTCCTGGGTTCAAGTAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACTGGTGTGTGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGATTAAGCAATCCTCCCACCTCGGCCTCCCTAAATGCTGGGATTACAGGTGTGACAGGCCATGCTTTTCTTTAAGAAATAAAATAACGGAGAATAAAAAGTAACGAAGTTGCCCATCACACATAAGAACAATTATTATTCAGAGAAACTTGTTCTAACAAGACATATAATACATAATGTATGATATTAACATATCATCCAATGTGTTATGGAACACACTTAATGGGTTTCATATGTTTATAATATATATTAAGTATATAGAATGCATATATATCTGTAGTTATTCTTCATGAAATGGAATACAATAAAATAGGAAATATTAAACCGGGCTGCAAATATTAAGGGTAATTATTTAATGAAACTTTCATTCCAATGATATGTACATAAGCACATACACTACATATAATAGATGATGTTATGTTACACATGACATAAAATATATATTTTATATTCCATTATATATTGTGTCACATAATATATGAATTATACACTTTTAAAATACATAGAATTGTAAATTATTGTATAAATATGCACACGATGGATTACATAAACTCTGCTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCTCCCAGGTTGAGGTGCTGTGGCCTGATCTCAGTTCACTGCAGCCTTAAACACCCGGGTTCAAGCGATCCTCCTGCCTCAGCCCCCCAAGTAGCTGGGACTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTTGTTTTGTTTTGTTTTGAGACCAAGTCTCACTCTGGCACCTAGGCTGGAATGCAGTAGTGCAATCTTGGCTCACTGCAACGTCCACCTCCTGGGCTCAAGCAATTCTCCTATGTCAGCCTCTCATGTAGCTGGGATTACAGATGTGCACCACCACACCCGGCTAATTTTTGTATTCTTTTTATTAGAGACGGGGCTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCTCCCACCTTGGTCTTCCAAAGTACTGAGATTACAGGCGTGAGCCACCGCGCCTGGCCTAAAACTCTGCTTCTTATTGTGGCACGTGGCTGTAGATTGAGGTGGAGGTTCTGAGATCTGCGCGCAGTGGGGGTTACTGCTGAGCACTGGGGTCATTTCCTATGGGGAAGGAGGGAGGGAGGGAGGACTCCACAGAGGGGGAAGCTGAAGCCAGATGTGGTGGAAGCAGAGGCCTGAGTGATCCTGTTGGGGCTCCAGAGCTGGGATGACCTCCACAGTTGTGCCAATCAAGGCAAGGGGCAGCCTTTGCTTGCCTGGCCCCCTCACCTAACTTCTCCCCTCGCTTACTCTATTCCAGGGGATGGTAAACTTTTTCTGTAAAGGGCCAGAGAGTACGAGAGCCCTAGGATCTCTGTGCAAATACTCAGCTCTGTCACTGTACTGCAAAAGCAACTGTGGAAAATATGCAAACGAATGAGCGCCTGGGTTCCAATAAGTCTATTTACAAAGACAGGAAGCAAGGGTCCCCTTGATTTGGCCCAAAGGCCTTGGTCAGCGAGCCTCTGCTCTATTCTGACAGCCAGAAACTCTTGCTGTTCCAGGAACAGGCCAAGGCCACATCTGTCCTAGGACTTTCACAGATACTCACAGCCCTCTTCCTATCTCCCTCCATCTGAAGCGCTGCCTCCTCCCTGCCCACCTGTCTAGATCAGCGGTGCCCGTAAGTCCGGAACTCCTACCCTGCCTCCATTCCTCTCAGTCCTCATCACCCTATGCTGGATTAGCTTTTTCCTTTTTTTTTTGAGATGGAGTCTCGTTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATATTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCACAGCCTCCTGAGTGGCTGGGATTACAGGCATGCACCACCATGCCCTGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTCGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGGGATTGGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCACGCCTGGCCACTCTTTCCTTCTTTATTGCCGGTCTCTGGCACTAGAATGTCAGCTCCAGTGAGGGCCTCTGCTTGCTCCCAACTGGCTCCCAGCTACTAGAATGGAGCCTGGTGCAGTTGATCCTCAGTACACTCAGAGTTGCCATGCTTCTCCTCTCTCTGTCCACACCGACTCCAGCTACAAGCCATTGCCACTGGGGGACCCAAGCCTGCCACTCAGCAACACAGCGACCAGCCCAGGAGTAGCTCCGTGAGCCAATAGATCAGGTTGGGGCTTATGTAAAGCCCATTTTCTCCTGGGGTGGCTCTCAGCCATTTTGCCTCCCTCCAGGCAATGGCCTGCCCTACAGAGAAACCAACAAGAGGGACAGCAGGGCCTGCCAGGAGATGGGAGGGGCACAGCCCTCAGGGCACCTCCCAGGGTTTTGTGAGCTGGGATGAATGGGTTTATAGTCCTGAGTCACTCCAGAGGGAGGATTCCGGATTCAGCCCAGCCCCTGCTTCCTAAACAACTATGGGGTGGGGCAGGGAACACTGGAAAAGAAATGTACGTGTGAGCATCTGTAAGACCCGGTGACGGCAGGGCTGGGGCTGTCTCTGTCACCACTGTGACCCCAGCATAGGGTGGGGCAGAGAGTGGGTAACTCAGTGAGTTTTGTGTTTTATTTTTTTTATTTTTTTTTTTTTTGCGGGAGACGCCCTACCAAGGACACTGGGTCCATGTCCCGGTGCGGGACCACCTCAGTGAGTTTTTTGAGTGAAAGAATAAATAAAGGATATTTTTCCTAAGGTTGACATGGACCTTATTTATTTATTTATTTATTTATTTATTTAGAGATGAAGTCTCGCTCTGTCACCCAGGCTGGAGTATAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTCCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATTACAGGTGCACAACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGATCAGGTTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCCTGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCCAGTCCCAAGGACTTTTTAAATATGAAAAAAGAATGCATCAACTTGAAGATAATCAGCTTCATTTACAAATTTATTCTAACCCCTCTCCCCAAATTACAAGGTACACAGAATTCTAGCTAGCAGAACACACGAGCAGTGAACCATCCTCTGGCCTCTTGCATTTTGAGAGGACGTTCTTTCCACTTCCACACACTCTGGCCACCCCTGACGCCGCAGTGGGGGAAGTAGATGGCCCTGCTGCCCACGATGACTGGCTGCCTGTCAGGGCAGGGCAGGGCAGGGCTGAGTGCGAAGTCTCTGAGATGTGAGAGCAGCACTCCATCTGGGTCAGGACAGCGCTGGGGTCAGGAATTGGNN
|
benign
| 306,638 |
Clinical classification of chromosome 19, position 45548661, gene OPA3 (outer mitochondrial membrane lipid metabolism regulator OPA3): benign or pathogenic? Disease(s) if pathogenic?
|
benign
|
AGCCCCCCAAGTAGCTGGGACTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTTGTTTTGTTTTGTTTTGAGACCAAGTCTCACTCTGGCACCTAGGCTGGAATGCAGTAGTGCAATCTTGGCTCACTGCAACGTCCACCTCCTGGGCTCAAGCAATTCTCCTATGTCAGCCTCTCATGTAGCTGGGATTACAGATGTGCACCACCACACCCGGCTAATTTTTGTATTCTTTTTATTAGAGACGGGGCTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCTCCCACCTTGGTCTTCCAAAGTACTGAGATTACAGGCGTGAGCCACCGCGCCTGGCCTAAAACTCTGCTTCTTATTGTGGCACGTGGCTGTAGATTGAGGTGGAGGTTCTGAGATCTGCGCGCAGTGGGGGTTACTGCTGAGCACTGGGGTCATTTCCTATGGGGAAGGAGGGAGGGAGGGAGGACTCCACAGAGGGGGAAGCTGAAGCCAGATGTGGTGGAAGCAGAGGCCTGAGTGATCCTGTTGGGGCTCCAGAGCTGGGATGACCTCCACAGTTGTGCCAATCAAGGCAAGGGGCAGCCTTTGCTTGCCTGGCCCCCTCACCTAACTTCTCCCCTCGCTTACTCTATTCCAGGGGATGGTAAACTTTTTCTGTAAAGGGCCAGAGAGTACGAGAGCCCTAGGATCTCTGTGCAAATACTCAGCTCTGTCACTGTACTGCAAAAGCAACTGTGGAAAATATGCAAACGAATGAGCGCCTGGGTTCCAATAAGTCTTTATTTACAAAGACAGGAAGCAAGGGTCCCCTTGATTTGGCCCAAAGGCCTTGGTCAGCGAGCCTCTGCTCTATTCTGACAGCCAGAAACTCTTGCTGTTCCAGGAACAGGCCAAGGCCACATCTGTCCTAGGACTTTCACAGATACTCACAGCCCTCTTCCTATCTCCCTCCATCTGAAGCGCTGCCTCCTCCCTGCCCACCTGTCTAGATCAGCGGTGCCCGTAAGTCCGGAACTCCTACCCTGCCTCCATTCCTCTCAGTCCTCATCACCCTATGCTGGATTAGCTTTTTCCTTTTTTTTTTGAGATGGAGTCTCGTTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATATTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCACAGCCTCCTGAGTGGCTGGGATTACAGGCATGCACCACCATGCCCTGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTCGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGGGATTGGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCACGCCTGGCCACTCTTTCCTTCTTTATTGCCGGTCTCTGGCACTAGAATGTCAGCTCCAGTGAGGGCCTCTGCTTGCTCCCAACTGGCTCCCAGCTACTAGAATGGAGCCTGGTGCAGTTGATCCTCAGTACACTCAGAGTTGCCATGCTTCTCCTCTCTCTGTCCACACCGACTCCAGCTACAAGCCATTGCCACTGGGGGACCCAAGCCTGCCACTCAGCAACACAGCGACCAGCCCAGGAGTAGCTCCGTGAGCCAATAGATCAGGTTGGGGCTTATGTAAAGCCCATTTTCTCCTGGGGTGGCTCTCAGCCATTTTGCCTCCCTCCAGGCAATGGCCTGCCCTACAGAGAAACCAACAAGAGGGACAGCAGGGCCTGCCAGGAGATGGGAGGGGCACAGCCCTCAGGGCACCTCCCAGGGTTTTGTGAGCTGGGATGAATGGGTTTATAGTCCTGAGTCACTCCAGAGGGAGGATTCCGGATTCAGCCCAGCCCCTGCTTCCTAAACAACTATGGGGTGGGGCAGGGAACACTGGAAAAGAAATGTACGTGTGAGCATCTGTAAGACCCGGTGACGGCAGGGCTGGGGCTGTCTCTGTCACCACTGTGACCCCAGCATAGGGTGGGGCAGAGAGTGGGTAACTCAGTGAGTTTTGTGTTTTATTTTTTTTATTTTTTTTTTTTTTGCGGGAGACGCCCTACCAAGGACACTGGGTCCATGTCCCGGTGCGGGACCACCTCAGTGAGTTTTTTGAGTGAAAGAATAAATAAAGGATATTTTTCCTAAGGTTGACATGGACCTTATTTATTTATTTATTTATTTATTTATTTAGAGATGAAGTCTCGCTCTGTCACCCAGGCTGGAGTATAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTCCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATTACAGGTGCACAACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGATCAGGTTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCCTGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCCAGTCCCAAGGACTTTTTAAATATGAAAAAAGAATGCATCAACTTGAAGATAATCAGCTTCATTTACAAATTTATTCTAACCCCTCTCCCCAAATTACAAGGTACACAGAATTCTAGCTAGCAGAACACACGAGCAGTGAACCATCCTCTGGCCTCTTGCATTTTGAGAGGACGTTCTTTCCACTTCCACACACTCTGGCCACCCCTGACGCCGCAGTGGGGGAAGTAGATGGCCCTGCTGCCCACGATGACTGGCTGCCTGTCAGGGCAGGGCAGGGCAGGGCTGAGTGCGAAGTCTCTGAGATGTGAGAGCAGCACTCCATCTGGGTCAGGACAGCGCTGGGGTCAGGAATTGGAGCTCCTGCCTGTGTTCACACTCCCACCTCTGTTTTTTTTTTTTGAGTTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTCAGGAATGTGCCAACATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGATCTCCTAACATCATGTGATCAGTCCACCTTGGCCTCTCAAAGTGCTGGGATGACAGGCGTGAGCTGGCCTGGGTCACTCCCAGTTTTAAACACAGCCCACTCAGGACCCACTCGGTCAGTTCCCTCTGCTCCAGCTTCTCCCCCTCTTCCAGAAGGAACTGAAATGCTGTTTCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATTACCTGAGGTCAGGAGTTCAAGATCAGCCTGGGCAACTTGGAGAAACCCCGTCTCCACTAAAATACAAAAATTAGCCAGGCGTGGGTGGTGGGCACATGTAATCCCAGCTACTTCGGAAGCTGAGGCAGGATCATTGGTTGAGCCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCGTCAGGGTGACGGAGCTAGACTGTCTCCGAAAGAAAAGAAAAGAAAAAAGAAGAGAAAAGAAGAAAAGAAAAGTTTCAGAACCTGTTTCTTGGCTTTCTATCTGGGCAGATCTTGGTCCAGGCCAGTTTTACCTCTTTAGAGAAGGGAGGTGAGGATGGAAGTCGGGGAAAGCCCGGCCCTCCCACTTTCACCTGCAGCTTCCCAAAAGCGGGCCCAGGTGGAATGGTCACCCAGTTTACACAATGCTATGATCTCTGGTGTGATCTGGGGCTGCTCTGAGAGGGGATAGAGAGGGTCTCCCACTATCAACGCCACCTCTGGGATGGTCTGGGCCTCTGTGTAGAGATCGTCACCCTCCCAGCCTCTGCTCAGCCATCGCCTCTCCCTCCTCACTCTGCAGCTGGGGTAATCCAAGCCTCTCACTCTGCCCCTACTACTTCACCACCCTGGGCAGTCAGCCCCTCACTGGCTGTGGCATCTCTGGCAAGTCCCTTTGCTTACCCCTGGCCTTAGTTTCCCCAGCTCATAGGGTGACTCTTGGGCCTCTCCCCATCAGAACCCTCCCAGTTTCCCTCCTGAT
|
AGCCCCCCAAGTAGCTGGGACTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTTGTTTTGTTTTGTTTTGAGACCAAGTCTCACTCTGGCACCTAGGCTGGAATGCAGTAGTGCAATCTTGGCTCACTGCAACGTCCACCTCCTGGGCTCAAGCAATTCTCCTATGTCAGCCTCTCATGTAGCTGGGATTACAGATGTGCACCACCACACCCGGCTAATTTTTGTATTCTTTTTATTAGAGACGGGGCTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCTCCCACCTTGGTCTTCCAAAGTACTGAGATTACAGGCGTGAGCCACCGCGCCTGGCCTAAAACTCTGCTTCTTATTGTGGCACGTGGCTGTAGATTGAGGTGGAGGTTCTGAGATCTGCGCGCAGTGGGGGTTACTGCTGAGCACTGGGGTCATTTCCTATGGGGAAGGAGGGAGGGAGGGAGGACTCCACAGAGGGGGAAGCTGAAGCCAGATGTGGTGGAAGCAGAGGCCTGAGTGATCCTGTTGGGGCTCCAGAGCTGGGATGACCTCCACAGTTGTGCCAATCAAGGCAAGGGGCAGCCTTTGCTTGCCTGGCCCCCTCACCTAACTTCTCCCCTCGCTTACTCTATTCCAGGGGATGGTAAACTTTTTCTGTAAAGGGCCAGAGAGTACGAGAGCCCTAGGATCTCTGTGCAAATACTCAGCTCTGTCACTGTACTGCAAAAGCAACTGTGGAAAATATGCAAACGAATGAGCGCCTGGGTTCCAATAAGTCTTTATTTACAAAGACAGGAAGCAAGGGTCCCCTTGATTTGGCCCAAAGGCCTTGGTCAGCGAGCCTCTGCTCTATTCTGACAGCCAGAAACTCTTGCTGTTCCAGGAACAGGCCAAGGCCACATCTGTCCTAGGACTTTCACAGATACTCACAGCCCTCTTCCTATCTCCCTCCATCTGAAGCGCTGCCTCCTCCCTGCCCACCTGTCTAGATCAGCGGTGCCCGTAAGTCCGGAACTCCTACCCTGCCTCCATTCCTCTCAGTCCTCATCACCCTATGCTGGATTAGCTTTTTCCTTTTTTTTTTGAGATGGAGTCTCGTTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATATTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCACAGCCTCCTGAGTGGCTGGGATTACAGGCATGCACCACCATGCCCTGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTCGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGGGATTGGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCACGCCTGGCCACTCTTTCCTTCTTTATTGCCGGTCTCTGGCACTAGAATGTCAGCTCCAGTGAGGGCCTCTGCTTGCTCCCAACTGGCTCCCAGCTACTAGAATGGAGCCTGGTGCAGTTGATCCTCAGTACACTCAGAGTTGCCATGCTTCTCCTCTCTCTGTCCACACCGACTCCAGCTACAAGCCATTGCCACTGGGGGACCCAAGCCTGCCACTCAGCAACACAGCGACCAGCCCAGGAGTAGCTCCGTGAGCCAATAGATCAGGTTGGGGCTTATGTAAAGCCCATTTTCTCCTGGGGTGGCTCTCAGCCATTTTGCCTCCCTCCAGGCAATGGCCTGCCCTACAGAGAAACCAACAAGAGGGACAGCAGGGCCTGCCAGGAGATGGGAGGGGCACAGCCCTCAGGGCACCTCCCAGGGTTTTGTGAGCTGGGATGAATGGGTTTATAGTCCTGAGTCACTCCAGAGGGAGGATTCCGGATTCAGCCCAGCCCCTGCTTCCTAAACAACTATGGGGTGGGGCAGGGAACACTGGAAAAGAAATGTACGTGTGAGCATCTGTAAGACCCGGTGACGGCAGGGCTGGGGCTGTCTCTGTCACCACTGTGACCCCAGCATAGGGTGGGGCAGAGAGTGGGTAACTCAGTGAGTTTTGTGTTTTATTTTTTTTATTTTTTTTTTTGCGGGAGACGCCCTACCAAGGACACTGGGTCCATGTCCCGGTGCGGGACCACCTCAGTGAGTTTTTTGAGTGAAAGAATAAATAAAGGATATTTTTCCTAAGGTTGACATGGACCTTATTTATTTATTTATTTATTTATTTATTTAGAGATGAAGTCTCGCTCTGTCACCCAGGCTGGAGTATAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTCCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATTACAGGTGCACAACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGATCAGGTTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCCTGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCCAGTCCCAAGGACTTTTTAAATATGAAAAAAGAATGCATCAACTTGAAGATAATCAGCTTCATTTACAAATTTATTCTAACCCCTCTCCCCAAATTACAAGGTACACAGAATTCTAGCTAGCAGAACACACGAGCAGTGAACCATCCTCTGGCCTCTTGCATTTTGAGAGGACGTTCTTTCCACTTCCACACACTCTGGCCACCCCTGACGCCGCAGTGGGGGAAGTAGATGGCCCTGCTGCCCACGATGACTGGCTGCCTGTCAGGGCAGGGCAGGGCAGGGCTGAGTGCGAAGTCTCTGAGATGTGAGAGCAGCACTCCATCTGGGTCAGGACAGCGCTGGGGTCAGGAATTGGAGCTCCTGCCTGTGTTCACACTCCCACCTCTGTTTTTTTTTTTTGAGTTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTCAGGAATGTGCCAACATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGATCTCCTAACATCATGTGATCAGTCCACCTTGGCCTCTCAAAGTGCTGGGATGACAGGCGTGAGCTGGCCTGGGTCACTCCCAGTTTTAAACACAGCCCACTCAGGACCCACTCGGTCAGTTCCCTCTGCTCCAGCTTCTCCCCCTCTTCCAGAAGGAACTGAAATGCTGTTTCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATTACCTGAGGTCAGGAGTTCAAGATCAGCCTGGGCAACTTGGAGAAACCCCGTCTCCACTAAAATACAAAAATTAGCCAGGCGTGGGTGGTGGGCACATGTAATCCCAGCTACTTCGGAAGCTGAGGCAGGATCATTGGTTGAGCCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCGTCAGGGTGACGGAGCTAGACTGTCTCCGAAAGAAAAGAAAAGAAAAAAGAAGAGAAAAGAAGAAAAGAAAAGTTTCAGAACCTGTTTCTTGGCTTTCTATCTGGGCAGATCTTGGTCCAGGCCAGTTTTACCTCTTTAGAGAAGGGAGGTGAGGATGGAAGTCGGGGAAAGCCCGGCCCTCCCACTTTCACCTGCAGCTTCCCAAAAGCGGGCCCAGGTGGAATGGTCACCCAGTTTACACAATGCTATGATCTCTGGTGTGATCTGGGGCTGCTCTGAGAGGGGATAGAGAGGGTCTCCCACTATCAACGCCACCTCTGGGATGGTCTGGGCCTCTGTGTAGAGATCGTCACCCTCCCAGCCTCTGCTCAGCCATCGCCTCTCCCTCCTCACTCTGCAGCTGGGGTAATCCAAGCCTCTCACTCTGCCCCTACTACTTCACCACCCTGGGCAGTCAGCCCCTCACTGGCTGTGGCATCTCTGGCAAGTCCCTTTGCTTACCCCTGGCCTTAGTTTCCCCAGCTCATAGGGTGACTCTTGGGCCTCTCCCCATCAGAACCCTCCCAGTTTCCCTCCTGATNNN
|
benign
| 306,644 |
Is the chromosome 19, position 45550397 variant in OPA3 (outer mitochondrial membrane lipid metabolism regulator OPA3) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
benign
|
AGAGGGACAGCAGGGCCTGCCAGGAGATGGGAGGGGCACAGCCCTCAGGGCACCTCCCAGGGTTTTGTGAGCTGGGATGAATGGGTTTATAGTCCTGAGTCACTCCAGAGGGAGGATTCCGGATTCAGCCCAGCCCCTGCTTCCTAAACAACTATGGGGTGGGGCAGGGAACACTGGAAAAGAAATGTACGTGTGAGCATCTGTAAGACCCGGTGACGGCAGGGCTGGGGCTGTCTCTGTCACCACTGTGACCCCAGCATAGGGTGGGGCAGAGAGTGGGTAACTCAGTGAGTTTTGTGTTTTATTTTTTTTATTTTTTTTTTTTTTGCGGGAGACGCCCTACCAAGGACACTGGGTCCATGTCCCGGTGCGGGACCACCTCAGTGAGTTTTTTGAGTGAAAGAATAAATAAAGGATATTTTTCCTAAGGTTGACATGGACCTTATTTATTTATTTATTTATTTATTTATTTAGAGATGAAGTCTCGCTCTGTCACCCAGGCTGGAGTATAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTCCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATTACAGGTGCACAACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGATCAGGTTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCCTGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCCAGTCCCAAGGACTTTTTAAATATGAAAAAAGAATGCATCAACTTGAAGATAATCAGCTTCATTTACAAATTTATTCTAACCCCTCTCCCCAAATTACAAGGTACACAGAATTCTAGCTAGCAGAACACACGAGCAGTGAACCATCCTCTGGCCTCTTGCATTTTGAGAGGACGTTCTTTCCACTTCCACACACTCTGGCCACCCCTGACGCCGCAGTGGGGGAAGTAGATGGCCCTGCTGCCCACGATGACTGGCTGCCTGTCAGGGCAGGGCAGGGCAGGGCTGAGTGCGAAGTCTCTGAGATGTGAGAGCAGCACTCCATCTGGGTCAGGACAGCGCTGGGGTCAGGAATTGGAGCTCCTGCCTGTGTTCACACTCCCACCTCTGTTTTTTTTTTTTGAGTTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTCAGGAATGTGCCAACATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGATCTCCTAACATCATGTGATCAGTCCACCTTGGCCTCTCAAAGTGCTGGGATGACAGGCGTGAGCTGGCCTGGGTCACTCCCAGTTTTAAACACAGCCCACTCAGGACCCACTCGGTCAGTTCCCTCTGCTCCAGCTTCTCCCCCTCTTCCAGAAGGAACTGAAATGCTGTTTCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATTACCTGAGGTCAGGAGTTCAAGATCAGCCTGGGCAACTTGGAGAAACCCCGTCTCCACTAAAATACAAAAATTAGCCAGGCGTGGGTGGTGGGCACATGTAATCCCAGCTACTTCGGAAGCTGAGGCAGGATCATTGGTTGAGCCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCGTCAGGGTGACGGAGCTAGACTGTCTCCGAAAGAAAAGAAAAGAAAAAAGAAGAGAAAAGAAGAAAAGAAAAGTTTCAGAACCTGTTTCTTGGCTTTCTATCTGGGCAGATCTTGGTCCAGGCCAGTTTTACCTCTTTAGAGAAGGGAGGTGAGGATGGAAGTCGGGGAAAGCCCGGCCCTCCCACTTTCACCTGCAGCTTCCCAAAAGCGGGCCCAGGTGGAATGGTCACCCAGTTTACACAATGCTATGATCTCTGGTGTGATCTGGGGCTGCTCTGAGAGGGGATAGAGAGGGTCTCCCACTATCAACGCCACCTCTGGGATGGTCTGGGCCTCTGTGTAGAGATCGTCACCCTCCCAGCCTCTGCTCAGCCATCGCCTCTCCCTCCTCACTCTGCAGCTGGGGTAATCCAAGCCTCTCACTCTGCCCCTACTACTTCACCACCCTGGGCAGTCAGCCCCTCACTGGCTGTGGCATCTCTGGCAAGTCCCTTTGCTTACCCCTGGCCTTAGTTTCCCCAGCTCATAGGGTGACTCTTGGGCCTCTCCCCATCAGAACCCTCCCAGTTTCCCTCCTGATTTTAATAAGCTCTGTACCCATTGTGGAGATCCACATGGTGGTTCAGGTACAGCCTCAGGATGCCTTCATCACCTTGCAGCTCCTCTAATGAGAGAGCTACAGTCGGAAGGACAGACTGCAGGCTACTGGGACCCACCCCCTCCCGCTTCAGTGGCAGATCCTGGAAGAGAAACCCAGTAGAAAAGGGTGGTTCCTAGACTGTTCCTCTCAGCTAGCAGGAAGGCCAAATGGCCCGCGGGGTTGGCAGGAGTCCCAGGGTACTTTTTTTCTGAGAAAGGGTCTCACTCTGTCATCCAGGCTGGAGTGTAGTGGCGCGATCACGGCTCGCTGCAGCCTCGACCTCCAGGGCTCAGGTGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCATCACCGCACCTGGCTAATTTTTTATTTTACTTTTGTAGAGATGGGGTCTCACTATGTTGCCCAGGCTGGTCTTCAGCTCCTGGGCTCAAAGAGATCCCTCCTGCCCTGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGACGCCAGCGTACTCTTGGGGTGAGGAGGAATAGTGGGCTGAATGGCTTGAATGGTGTGCCCCCAACAGACAAGTCCACATACTAACCCCCAGGACCTGTGCTTATGACAGTTTATTTGGAAAAAGTGTTTTTTCAGATGTAATTAAGGGTCTTGAGGTGGGATCATCCTGAACTTAAGATGGGCCCTAAATGCAATGACAGGTGTTCTTGTAAGAGACAAAATAGAAGAGGGAAAAGGCCATGTGAAGCTGCAGGCAGAGCCAAGGAAGGCCTGGAATCACCAGGAGCTGGAAGAGGGAGCGTGTCCCTGTCAGCACCTTGGTTTCAGACTTCTGGACTCCAGAACTGTGTGAATTAAATTCCTGTTGGACTTAAGCCATCAAGTTCACCACCCAATGGTGATCTGTTATGGCAGTCCAAGGAAATTAATCAAGCAGTTAAGGCCAACTGCTGGCCTAATTGGTAGGATGGGGGTGGGACCGGGGGCTATGGAGGCAGGAGGGTACTGCTACATGAAGACAGGCTGTCGGGTCAGTCCAGAGCTCCGAGGAAAGAAAGCAAGAGCACACAGATTAGGAGACACGGATGGAAGATGAAGGATGTGACAATTGAATCCATGGGCTTGGATTCGACTGGGTCCCTGAGAAATGCTACTGAGCAAGGTGGGGAAGGCAAGAAAGGACATGCCACACAGTACAAGCTCCAGGGACTCTGAGGACAGGAAAATAGGGGGCTGAGGCTGAAGGACAGGCTGGATTAGCCCTAGTTAGGATCAAATTTCCCACCACGGAAAGGGGGGTTGGAGGACATTCACAGAAAAGATCCTGTAGTGCCATTCCAGTGGGTTGTGCCATAGACTCAAGGATGAGGGGGTTCTGTTGGAATAGTCCACTTCGGGTCTCAAGGGAAGGTACAATGATTCCAGGGATTGACTGCAGGCCAGGACCTTTTGTGGGTTTTTTTAAGATGGAGTTTTGCTCGTTACCCAGGCTGGCATGCAATTGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCAGCTAATTTATGTATTTTTAGTAGAGACGGGGTTTCATCATATTGGTCAGGCTGGTCTCGAGCTCCCGATCTCCCG
|
AGAGGGACAGCAGGGCCTGCCAGGAGATGGGAGGGGCACAGCCCTCAGGGCACCTCCCAGGGTTTTGTGAGCTGGGATGAATGGGTTTATAGTCCTGAGTCACTCCAGAGGGAGGATTCCGGATTCAGCCCAGCCCCTGCTTCCTAAACAACTATGGGGTGGGGCAGGGAACACTGGAAAAGAAATGTACGTGTGAGCATCTGTAAGACCCGGTGACGGCAGGGCTGGGGCTGTCTCTGTCACCACTGTGACCCCAGCATAGGGTGGGGCAGAGAGTGGGTAACTCAGTGAGTTTTGTGTTTTATTTTTTTTATTTTTTTTTTTTTTGCGGGAGACGCCCTACCAAGGACACTGGGTCCATGTCCCGGTGCGGGACCACCTCAGTGAGTTTTTTGAGTGAAAGAATAAATAAAGGATATTTTTCCTAAGGTTGACATGGACCTTATTTATTTATTTATTTATTTATTTATTTAGAGATGAAGTCTCGCTCTGTCACCCAGGCTGGAGTATAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTCCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATTACAGGTGCACAACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGATCAGGTTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCCTGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCCAGTCCCAAGGACTTTTTAAATATGAAAAAAGAATGCATCAACTTGAAGATAATCAGCTTCATTTACAAATTTATTCTAACCCCTCTCCCCAAATTACAAGGTACACAGAATTCTAGCTAGCAGAACACACGAGCAGTGAACCATCCTCTGGCCTCTTGCATTTTGAGAGGACGTTCTTTCCACTTCCACACACTCTGGCCACCCCTGACGCCGCAGTGGGGGAAGTAGATGGCCCTGCTGCCCACGATGACTGGCTGCCTGTCAGGGCAGGGCAGGGCAGGGCTGAGTGCGAAGTCTCTGAGATGTGAGAGCAGCACTCCATCTGGGTCAGGACAGCGCTGGGGTCAGGAATTGGAGCTCCTGCCTGTGTTCACACTCCCACCTCTGTTTTTTTTTTTTGAGTTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTCAGGAATGTGCCAACATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGATCTCCTAACATCATGTGATCAGTCCACCTTGGCCTCTCAAAGTGCTGGGATGACAGGCGTGAGCTGGCCTGGGTCACTCCCAGTTTTAAACACAGCCCACTCAGGACCCACTCGGTCAGTTCCCTCTGCTCCAGCTTCTCCCCCTCTTCCAGAAGGAACTGAAATGCTGTTTCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATTACCTGAGGTCAGGAGTTCAAGATCAGCCTGGGCAACTTGGAGAAACCCCGTCTCCACTAAAATACAAAAATTAGCCAGGCGTGGGTGGTGGGCACATGTAATCCCAGCTACTTCGGAAGCTGAGGCAGGATCATTGGTTGAGCCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCGTCAGGGTGACGGAGCTAGACTGTCTCCGAAAGAAAAGAAAAGAAAAAAGAAGAGAAAAGAAGAAAAGAAAAGTTTCAGAACCTGTTTCTTGGCTTTCTATCTGGGCAGATCTTGGTCCAGGCCAGTTTTACCTCTTTAGAGAAGGGAGGTGAGGATGGAAGTCGGGGAAAGCCCGGCCCTCCCACTTTCACCTGCAGCTTCCCAAAAGCGGGCCCAGGTGGAATGGTCACCCAGTTTACACAATGCTATGATCTCTGGTGTGATCTGGGGCTGCTGCTCTGAGAGGGGATAGAGAGGGTCTCCCACTATCAACGCCACCTCTGGGATGGTCTGGGCCTCTGTGTAGAGATCGTCACCCTCCCAGCCTCTGCTCAGCCATCGCCTCTCCCTCCTCACTCTGCAGCTGGGGTAATCCAAGCCTCTCACTCTGCCCCTACTACTTCACCACCCTGGGCAGTCAGCCCCTCACTGGCTGTGGCATCTCTGGCAAGTCCCTTTGCTTACCCCTGGCCTTAGTTTCCCCAGCTCATAGGGTGACTCTTGGGCCTCTCCCCATCAGAACCCTCCCAGTTTCCCTCCTGATTTTAATAAGCTCTGTACCCATTGTGGAGATCCACATGGTGGTTCAGGTACAGCCTCAGGATGCCTTCATCACCTTGCAGCTCCTCTAATGAGAGAGCTACAGTCGGAAGGACAGACTGCAGGCTACTGGGACCCACCCCCTCCCGCTTCAGTGGCAGATCCTGGAAGAGAAACCCAGTAGAAAAGGGTGGTTCCTAGACTGTTCCTCTCAGCTAGCAGGAAGGCCAAATGGCCCGCGGGGTTGGCAGGAGTCCCAGGGTACTTTTTTTCTGAGAAAGGGTCTCACTCTGTCATCCAGGCTGGAGTGTAGTGGCGCGATCACGGCTCGCTGCAGCCTCGACCTCCAGGGCTCAGGTGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCATCACCGCACCTGGCTAATTTTTTATTTTACTTTTGTAGAGATGGGGTCTCACTATGTTGCCCAGGCTGGTCTTCAGCTCCTGGGCTCAAAGAGATCCCTCCTGCCCTGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGACGCCAGCGTACTCTTGGGGTGAGGAGGAATAGTGGGCTGAATGGCTTGAATGGTGTGCCCCCAACAGACAAGTCCACATACTAACCCCCAGGACCTGTGCTTATGACAGTTTATTTGGAAAAAGTGTTTTTTCAGATGTAATTAAGGGTCTTGAGGTGGGATCATCCTGAACTTAAGATGGGCCCTAAATGCAATGACAGGTGTTCTTGTAAGAGACAAAATAGAAGAGGGAAAAGGCCATGTGAAGCTGCAGGCAGAGCCAAGGAAGGCCTGGAATCACCAGGAGCTGGAAGAGGGAGCGTGTCCCTGTCAGCACCTTGGTTTCAGACTTCTGGACTCCAGAACTGTGTGAATTAAATTCCTGTTGGACTTAAGCCATCAAGTTCACCACCCAATGGTGATCTGTTATGGCAGTCCAAGGAAATTAATCAAGCAGTTAAGGCCAACTGCTGGCCTAATTGGTAGGATGGGGGTGGGACCGGGGGCTATGGAGGCAGGAGGGTACTGCTACATGAAGACAGGCTGTCGGGTCAGTCCAGAGCTCCGAGGAAAGAAAGCAAGAGCACACAGATTAGGAGACACGGATGGAAGATGAAGGATGTGACAATTGAATCCATGGGCTTGGATTCGACTGGGTCCCTGAGAAATGCTACTGAGCAAGGTGGGGAAGGCAAGAAAGGACATGCCACACAGTACAAGCTCCAGGGACTCTGAGGACAGGAAAATAGGGGGCTGAGGCTGAAGGACAGGCTGGATTAGCCCTAGTTAGGATCAAATTTCCCACCACGGAAAGGGGGGTTGGAGGACATTCACAGAAAAGATCCTGTAGTGCCATTCCAGTGGGTTGTGCCATAGACTCAAGGATGAGGGGGTTCTGTTGGAATAGTCCACTTCGGGTCTCAAGGGAAGGTACAATGATTCCAGGGATTGACTGCAGGCCAGGACCTTTTGTGGGTTTTTTTAAGATGGAGTTTTGCTCGTTACCCAGGCTGGCATGCAATTGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCAGCTAATTTATGTATTTTTAGTAGAGACGGGGTTTCATCATATTGGTCAGGCTGGTCTCGAGCTCCCGATCTC
|
benign
| 306,655 |
Regarding the variant at chromosome 19 and position 45553859, affecting gene OPA3 (outer mitochondrial membrane lipid metabolism regulator OPA3): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['3-Methylglutaconic_aciduria_type_3']
|
AGGAAAGAAAGCAAGAGCACACAGATTAGGAGACACGGATGGAAGATGAAGGATGTGACAATTGAATCCATGGGCTTGGATTCGACTGGGTCCCTGAGAAATGCTACTGAGCAAGGTGGGGAAGGCAAGAAAGGACATGCCACACAGTACAAGCTCCAGGGACTCTGAGGACAGGAAAATAGGGGGCTGAGGCTGAAGGACAGGCTGGATTAGCCCTAGTTAGGATCAAATTTCCCACCACGGAAAGGGGGGTTGGAGGACATTCACAGAAAAGATCCTGTAGTGCCATTCCAGTGGGTTGTGCCATAGACTCAAGGATGAGGGGGTTCTGTTGGAATAGTCCACTTCGGGTCTCAAGGGAAGGTACAATGATTCCAGGGATTGACTGCAGGCCAGGACCTTTTGTGGGTTTTTTTAAGATGGAGTTTTGCTCGTTACCCAGGCTGGCATGCAATTGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCAGCTAATTTATGTATTTTTAGTAGAGACGGGGTTTCATCATATTGGTCAGGCTGGTCTCGAGCTCCCGATCTCCCGACCTCCCGACTTCAAATGACCCGCCCACCTCGACCTTCCAAAGTGCTGGGATTGCAGGTGTGAGCCACCGTGCCCAGCCAGGATTTTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCACCCGGGCTGGAATACAGTGGTACAATCTTGGCCTCCACCTCCCAAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCACCCACCACCACGCCCGGTTAACTTTTGGTTTTAAGACGGTGTCTTGCTCTGTTGCCCAGGCTAGGGTGCAATGGTGCCATCTTGGCTCACCGCAACCTCCACCTCATGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGCACCCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCCCAAGGTGCTAGGATTACAGGCGTGAGCCACCGCTCCCAGCCGCACCGTTTTTTTCCTCCTTAAGAGAGCACTGATGCTCAGCTAGAGCTGACCTTAGAAGGTGAGGGGGAGAAAAGGCCACTGCAACACACTGCATTTCCTTACAGTGGTCTGTGCCGATTGACAAAAAGAAGAAGGTGTTCCAGTGTAACAGATGAGTGTCCCAGTAAAGGTTAACACTGATCAGGTAAACCGGGGGTGGGGGTAACAATAACACATTGATTCAGCTCAAGACCAGGTTCCATTTTTTCATTTGCCAGAGTGCCCACGGTGTCCTGCTGGCTGGGACCTTGCAGGTCGTCCTGGTTTGGAGTGGGGGATAGGAGGTGAAGGATGATGGAGGGGGCTATGTTGCAACGCTTCACCTGCTGGTCCCAGTGGCAGGTAACGGCTGCTCTTATCAGCAGGGGTAACCAAATGCCAAGTTGCATCAAGATCCTGGTGGTTTCCACTGGGCCAGCGCAGGCAAGGGTGGTGCGGGAAGAAGGCCACGTTAGGTACATAGGCCATGTCCAAATTCAGGTTCCATCCAGCAAGCTCCTATTTCTTGGACGCAGGCACTGCGTGGGAAGCGGACCGGCCGGGATTGCAGAGCTGGGCGCGCACCTCTTGCAGCTCTGTGCGCAGTTCCTCCAGGGCGCCCTGTGGCGGCGCCGCCTGCACCTGCGCCTGCAGCGCTTCCAGCGCCAGCGCCAGGTGGCCCACCTCGTCCCGCAGCGCGTTCCAGGCAGCACGCTGCTCCTCCTCCTTGTGGCGCTGCTGCGCCTGGTGGCGCCAGTACTCCAGCACTAGGCAGCCGCCGCCCACGATGAAGATGGTGGCTTCGCCCAGCAGCTCTGCGCCCAGCTCAGCTGCCGCCTCCTCGTTCAGCGGCTTGATGACCGTGCCCCGGAAGCCCATGATGCGCATCTTGGTCCGCATCTCCACCCAGTGATACACTGCGGGGGAAGAGAGGGGTCAGGCTGCGCTCTGGGAGCCCCCTGCAAGCCCCACCCCTCTCACCCAGGGAATGCAGTCACCTAGCCTGGGTAACCCAGGGGTCTTTTAAAAGACCAGATGATTCTAGCGAGCAGCCAGGAATAAGAAACACTGCCCCAGAAGGGAGGTCCTCGGACTTGAGGGGCCGCGCCCCAAGAGGGACACCAGGAGCTTCCACAGCGCCAAGTTCATGGACGGTGTAAAGGTCCAGTTGCCAGATGCTTAGTTCCCTGTGTTCCTCCCTTAAGCCACTGCCATCCTGGCTGTCCTGCCCTGGCACTGTCGCCCCACCCACTTCCCAGGAGAAAGACCAACCTCCTTTCTTGCCTTATTTTCCCAAAATGCAAAGTTGGGGCTACAGATGGGGGAGAGGGGGGCTCCTGGCTCCAAAGGGCAGCTTAAGGTGGCAGTCGATGCTAAGTGCCTCTGAACACTTAGATACACTTGTAATAATCAATCATTTTTGCAAGTCTGATGGCTCCAATCCTAGAATTTCATCAGCCCTGAAGGTGCAGCTAAGAGCTGCGAGCTCTTCACAGTGAGGTTTTGGGCACATACCTTGGTGGGAGCTCAAGAGGTGAGTGGTGCTGCTGGAACAAAAACTCCTTCCTTGCCTAGCTGCTTCTTTATGAAGGAAGGTTCTCAGCACTTGAGTCTTTAAAACCAATGCAGAATTGATGCTGCATCCTGACTCACTCCTGCAACAATTAATATTCATCCAAGGGCACATGAAACCACAGAGGGAACCCTTGTGTGGTGCCTTTGCAGACTCATTTGCAACATCTCCTTTTACTTTTAAGGTTTAGTAATTATTCATGAAAATGTATAAAAGATGAACTTTTTGTTGTTGTTGTTTTAGAGACGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAGTCTTGGCTCACTGCAACCTCCTCCTCCCAGGTTCAAGCAATTCCCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGTCTAATTTTTCGTATTTTTAGTAGAGAAGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGATCATCTGACCTCGTGATCCACCTGCGTTGGCCTCTCAAACTGCTGGGATTACAGCCATGAGCCACCATGTCCATCCAAAAGATGAACATTTTAAAGTAACTGCGCACTAATAATTTCAAAATTAACTCAATCCAGAAGAAAATAACTTAGCATTTAGAACCTTATGGTCACAGGAAATTAACATGTAAATTTCTGTATGTATTTTGGTTGCCGACATATAAATCACTAGATGGAATTCTGTGGGTATGTGGACTGTAAATACAAAAGTACATGAACAAAAAGAAACCATGTGAAATTTCTGACTGAAAAAGAAGAGCTTGTTTTTATTTGTATTATTTTCGAGACGGGGTCTTGCTTTGTCGCCCCGGCTGGAGTGTAGTGGCGCAATCATGGCTCACTGCAGCCTCGACCTTCCAGGCTCAAATGATCCTCCCACCTCAGTCCCTTGAGTAACTGGGACTACAGGTATGCCTGGCTAATATTTTTTTTTTTTTTGAGATGGAGTCACACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCACCCGGGTTCACACCATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCAGCTAATTTTTTTATATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCTAGTCATTTTTGTATTTTTTTTAAAATAGAGATGGGGTTTATCAGTATGTTGCCTAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCTGGCTGCCTCGGCCTCCCAAAGTGCTGGGATTG
|
AGGAAAGAAAGCAAGAGCACACAGATTAGGAGACACGGATGGAAGATGAAGGATGTGACAATTGAATCCATGGGCTTGGATTCGACTGGGTCCCTGAGAAATGCTACTGAGCAAGGTGGGGAAGGCAAGAAAGGACATGCCACACAGTACAAGCTCCAGGGACTCTGAGGACAGGAAAATAGGGGGCTGAGGCTGAAGGACAGGCTGGATTAGCCCTAGTTAGGATCAAATTTCCCACCACGGAAAGGGGGGTTGGAGGACATTCACAGAAAAGATCCTGTAGTGCCATTCCAGTGGGTTGTGCCATAGACTCAAGGATGAGGGGGTTCTGTTGGAATAGTCCACTTCGGGTCTCAAGGGAAGGTACAATGATTCCAGGGATTGACTGCAGGCCAGGACCTTTTGTGGGTTTTTTTAAGATGGAGTTTTGCTCGTTACCCAGGCTGGCATGCAATTGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCAGCTAATTTATGTATTTTTAGTAGAGACGGGGTTTCATCATATTGGTCAGGCTGGTCTCGAGCTCCCGATCTCCCGACCTCCCGACTTCAAATGACCCGCCCACCTCGACCTTCCAAAGTGCTGGGATTGCAGGTGTGAGCCACCGTGCCCAGCCAGGATTTTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCACCCGGGCTGGAATACAGTGGTACAATCTTGGCCTCCACCTCCCAAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCACCCACCACCACGCCCGGTTAACTTTTGGTTTTAAGACGGTGTCTTGCTCTGTTGCCCAGGCTAGGGTGCAATGGTGCCATCTTGGCTCACCGCAACCTCCACCTCATGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGCACCCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCCCAAGGTGCTAGGATTACAGGCGTGAGCCACCGCTCCCAGCCGCACCGTTTTTTTCCTCCTTAAGAGAGCACTGATGCTCAGCTAGAGCTGACCTTAGAAGGTGAGGGGGAGAAAAGGCCACTGCAACACACTGCATTTCCTTACAGTGGTCTGTGCCGATTGACAAAAAGAAGAAGGTGTTCCAGTGTAACAGATGAGTGTCCCAGTAAAGGTTAACACTGATCAGGTAAACCGGGGGTGGGGGTAACAATAACACATTGATTCAGCTCAAGACCAGGTTCCATTTTTTCATTTGCCAGAGTGCCCACGGTGTCCTGCTGGCTGGGACCTTGCAGGTCGTCCTGGTTTGGAGTGGGGGATAGGAGGTGAAGGATGATGGAGGGGGCTATGTTGCAACGCTTCACCTGCTGGTCCCAGTGGCAGGTAACGGCTGCTCTTATCAGCAGGGGTAACCAAATGCCAAGTTGCATCAAGATCCTGGTGGTTTCCACTGGGCCAGCGCAGGCAAGGGTGGTGCGGGAAGAAGGCCACGTTAGGTACATAGGCCATGTCCAAATTCAGGTTCCATCCAGCAAGCTCCTATTTCTTGGACGCAGGCACTGCGTGGGAAGCGGACCGGCCGGGATTGCAGAGCTGGGCGCGCACCTCTTGCAGCTCTGTGCGCAGTTCCTCCAGGGCGCCCTGTGGCGGCGCCGCCTGCACCTGCGCCTGCAGCGCTTCCAGCGCCAGCGCCAGGTGGCCCACCTCGTCCCGCAGCGCGTTCCAGGCAGCACGCTGCTCCTCCTCCTTGTGGCGCTGCTGCGCCTGGTGGCGCCAGTACTCCAGCACTAGGCAGCCGCCGCCCACGATGAAGATGGTGGCTTCGCCCAGCAGCTCTGCGCCCAGCTCAGCTGCCGCCTCCTCGTTCAGCGGCTTGATGACCGTGCCCGGAAGCCCATGATGCGCATCTTGGTCCGCATCTCCACCCAGTGATACACTGCGGGGGAAGAGAGGGGTCAGGCTGCGCTCTGGGAGCCCCCTGCAAGCCCCACCCCTCTCACCCAGGGAATGCAGTCACCTAGCCTGGGTAACCCAGGGGTCTTTTAAAAGACCAGATGATTCTAGCGAGCAGCCAGGAATAAGAAACACTGCCCCAGAAGGGAGGTCCTCGGACTTGAGGGGCCGCGCCCCAAGAGGGACACCAGGAGCTTCCACAGCGCCAAGTTCATGGACGGTGTAAAGGTCCAGTTGCCAGATGCTTAGTTCCCTGTGTTCCTCCCTTAAGCCACTGCCATCCTGGCTGTCCTGCCCTGGCACTGTCGCCCCACCCACTTCCCAGGAGAAAGACCAACCTCCTTTCTTGCCTTATTTTCCCAAAATGCAAAGTTGGGGCTACAGATGGGGGAGAGGGGGGCTCCTGGCTCCAAAGGGCAGCTTAAGGTGGCAGTCGATGCTAAGTGCCTCTGAACACTTAGATACACTTGTAATAATCAATCATTTTTGCAAGTCTGATGGCTCCAATCCTAGAATTTCATCAGCCCTGAAGGTGCAGCTAAGAGCTGCGAGCTCTTCACAGTGAGGTTTTGGGCACATACCTTGGTGGGAGCTCAAGAGGTGAGTGGTGCTGCTGGAACAAAAACTCCTTCCTTGCCTAGCTGCTTCTTTATGAAGGAAGGTTCTCAGCACTTGAGTCTTTAAAACCAATGCAGAATTGATGCTGCATCCTGACTCACTCCTGCAACAATTAATATTCATCCAAGGGCACATGAAACCACAGAGGGAACCCTTGTGTGGTGCCTTTGCAGACTCATTTGCAACATCTCCTTTTACTTTTAAGGTTTAGTAATTATTCATGAAAATGTATAAAAGATGAACTTTTTGTTGTTGTTGTTTTAGAGACGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAGTCTTGGCTCACTGCAACCTCCTCCTCCCAGGTTCAAGCAATTCCCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGTCTAATTTTTCGTATTTTTAGTAGAGAAGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGATCATCTGACCTCGTGATCCACCTGCGTTGGCCTCTCAAACTGCTGGGATTACAGCCATGAGCCACCATGTCCATCCAAAAGATGAACATTTTAAAGTAACTGCGCACTAATAATTTCAAAATTAACTCAATCCAGAAGAAAATAACTTAGCATTTAGAACCTTATGGTCACAGGAAATTAACATGTAAATTTCTGTATGTATTTTGGTTGCCGACATATAAATCACTAGATGGAATTCTGTGGGTATGTGGACTGTAAATACAAAAGTACATGAACAAAAAGAAACCATGTGAAATTTCTGACTGAAAAAGAAGAGCTTGTTTTTATTTGTATTATTTTCGAGACGGGGTCTTGCTTTGTCGCCCCGGCTGGAGTGTAGTGGCGCAATCATGGCTCACTGCAGCCTCGACCTTCCAGGCTCAAATGATCCTCCCACCTCAGTCCCTTGAGTAACTGGGACTACAGGTATGCCTGGCTAATATTTTTTTTTTTTTTGAGATGGAGTCACACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCACCCGGGTTCACACCATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCAGCTAATTTTTTTATATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCTAGTCATTTTTGTATTTTTTTTAAAATAGAGATGGGGTTTATCAGTATGTTGCCTAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCTGGCTGCCTCGGCCTCCCAAAGTGCTGGGATTGN
|
pathogenic
| 306,681 |
Classify the chromosome 19 variant at position 45768683 affecting gene SIX5 as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
benign
|
GGGGCAGAGGAAAGGTGGCAGCCGTCGGGGGGCCAGGCACCACTTGGGCCAGGGGCCCCAGGACCTCCTCTCCAAGGGCTGGTCCCGGAGCAGCCACCTGGGCCCCTTTGGTCTCAGGGGCCTCCGACTGAGCCTCCTCCAGCCGCACCTCCCCTGTCTGAGGGTCCAGGACCAGAGAGGTCTTGGTCTCGCTGGCCCCCTGAGGGCTGGGCTGCGGTGGAGGGGCACCCCCGCCCCCAGTGAGCAGCAGCGGGCCCAGGCTGGAGGCCTCGCCCAGGGCCAGGCCGTTGATGATGACGGGGCCCCCGTTGAGGAGCACTGCTGGGGAGCCGCTGGCTGCCAGGAAGCTCCCGTTCACCAGGATGGAGGAGGAAGCCGGGCAAGGCGCGGGAGGGCCGGTCCCTGCCAGGAATATGGAGCCCTGGGCAGCGGCCTCGGCGGACACTGGGGCCGCCCCTCTCTCCAGGTCCTCAGGACTTCGGCTGGACTCGTCCTCAGTCGTGGGATTCCCATCAGACTCGCTGGCCGGAGAAATGGCTGTCAGCTGGGGTCCCTTAGCCTGTGGGGCCTCCCGCATAGCCAGCCAGCTGCTCCCCCACCTTTCCCTGGCCCAAGTTTCGGTGGATCATTCCAGGGGTTATGACGCCTCTCTGAGACCACTCCAAACTCCAGGGCCTTTTGCAAGCCCTGCGTGGACACCACTGCAGAGAAGCGCTGGGGAGGGAAGAGGCCCTTGCTCTCCCCCACCTCGGCCTCGGGTCCCCAGAGGCTGAGCTCCCAGGTTGCCCTAAAAGTTCCTTGGTTGGGCGGAAAGCGGGCGAGTGGCCTGGAGAGAGGGAGCAGCAGCCGCCAGCCCAGTTCCCGGTGCCCTCCCCGCGGGGCGTCAGAGAAGGGAGAGGCCGGCGCTCAGGGTGGGAGGAGAAGGGTTTGGGTTACAGGGAAACCGGAGCTGGGAAAGGTTCACGTTTCACAACAAAGGCAGAAGACGGACCACGCCGTCCGGGCCCGGAGGGAGTGTGGGGGCGGGTGGGTAAGAGTAACGGTCAGTGAAGAAAGGGGGCTGGGAGGCAGCCCCTACGCGGAGTGGAGTGGCCACAGGCCCTGTCCTTTTTCCTCAGTCCCTCTAGTGCCCCCCGCAGTGTGATTCCCCAACACCGATGGGATTTGGGAAGGAGCTCGGAATGGAGCCGCTGGAAGAGGAGACGCGTGCGGGGAGAGGGCCCGGGCGGGTGCCTGTCCCGTCCACACTTAGTCCCCGCGCCCCGCGGGCGCCTGAGATTGTGAGCTGGTCCCGGGAGATGTCCGAGGACCTCGGCGCGCCGGCCCCAGCAGTGGGCACGGGGGAAGAGGGCTGGTGGACGGGATGTCCCCGGGAGAGCTGGACTTGCGCCGCCCGAGGCCCCTCACCTCTTGCAGGGCGCGCCGCCTCCGGCCCCGGTCCGGTCGCGCTGTCGCCGGTTCTTGAACCAGTTGCTGACCTGCGTGAGCGACAGGCCGGTGAGTGTGGCCAGGCGGCGCTTCTCGTCCGGCGTGGGGTAGCGGTTGCCGCGGTAGCAGGCCTTGAGCGCTGCGCGGGAGCGCTCCTTGAAGCAGTAGACTGTCTCCTCGCCGTCCCAGATGGTCTTGGGCAGCGGGAACTTCTTGCGCAGTCGATACTTGTCCACTGCGCCAAGCGCGCGGCCGCGGGCCCGCTCGGCCTCATGGTAGCGCGCGCGCAGGTAGAGGTCCTGCAGGAAGGCGTGGTGGGCGGCGGGGAAGGGGCGGCTCTCGAGTAGCCGGTAGAGCTCGGCGTACTCGCCCCGCTGGAAGGCCACCAGGGCCCGCGCGCGCAACACCGGGTCGCTGCCACGTAGGCGCTCGGCCGGGGGCAGTGCGCCCAGGAAGCGGCTCAAGCGGCCGGCGTGGCCCGCCTGGAGCAGCGCCTCGCAGACGCACGCCACCTGCTCGGGCGAGAAGCGGAGGCCCGTGGGCGGTTCGGAAGCGGCCTCGGGGGGCGACCCGGGGACGCCCGGGGATCCCGGGCCCTCAGCTCCCGCAGCCGCTGCGCCCGCCCCGGCCCCGGCCGCCGCCGCCGCCTCACCCTCGGCCGCCTGCAAAGTCTGCAAGAGCTGGCGCGCTTCCTCCTCCTCCTCTTCGGTCGCCGCCGCCGCCGCCACCGCCTCCCCCCCAGCCGCCGGCCCCGCGCTCGGCTCCGCAGGCAAGGTAGCCATGTTTTGCAACTTTGGGAAGTTCCTCCCTCCCTCTCTTCCTCCCTCGGGCTTTCCCCAGCCTCCTCCCCCACCTGTCCCCCCTTTTCGCCCCCACTCCCCGCTCTTCTCGATCTTCTTTCTGGCCGACCCTGCGCCCCACGCCGGGAAGGCGAGATCCAGCTCTCCACTCGGGTCTCTGTCCCCTTGTGTGTGTCCGTCCCCCTCCCGTCTGTCTGTGATTCTCCCTTTGTTTTCCCTCCGCCTCTGGCCGCGCTTTCTGCCTCCCCCCAGCGTGTGCTTCTGGCTCAGGGCCTCAGTTTCCCCATCGGGACAACGCAGAAGGTAACGGGCCGTCCAGGAGGACTAAGGGCGCGAAGCCTCCGCCCCGAGACTGAGCTTCTGCACGCCTCCGTCTCCAGGGTCCTCTGCAGGCCCCCACATTCCCCATCTCGGCCTGCGCTCCGCCCCTCGGAATTCCCGGCTCCGCAGGGGGGGCGGGTCTGGCCGGGAGGAGGGGCGGGGAACGGGCTAGAAAGTTTGCAGCAACTTTTCTCGAGCTTGCGTCCCAGGAGCGGATGCGCGTGGCGTGCGCAGGCGCAGTGGAAGGAGGATGGCCGCGCGCGCTGCCAGCCCAGCCCCCTCTTCTCGACGCTCGGTGGCACAGCTGGGCCACAGCTGGGCGGGGGCGGTGCCTCCGGGTGGCCCGCTCGCCCTCCTATTGGCCGGACGCCAAAGCCCCGCCCCGTGGCTTTTCCTCCCCCAACCCTGATTCGGCCGCTTCGCATCCCGCTAGCTCCTCCCAGACCTTCGGCCGCCTCCACACGCCTCCGGATTGGCCCGCTGCGGAGCCTCCGGCCCACAACGCAAACCGCGGACACTGTGGAGTCCAGAGCTTTGGGCAGATGGAGGGCCTTTTATTCGCGAGGGTCGGGGGTGGGGGTCCTAGGTGGGGACAGACAATAAATACCGAGGAATGTCGGGGTCTCAGTGCATCCAAAACGTGGATTGGGGTTGTTGGGGGTCCTGTAGCCTGTCAGCGAGTCGGAGGACGAGGTCAATAAATATCCAAACCGCCGAAGCGGGCGGAGCCGGCTGGGGCTCCGAGAGCAGCGCAAGTGAGGAGGGGGGCGCGGGATCCCCGAAAAAGCGGGTTTGGCAAAAGCAAATTTCCCGAGTAAGCAGGCAGAGATCGCGCCAGACGCTCCCCAGAGCAGGGCGTCATGCACAAGAAAGCTTTGCACTTTGCGAACCAACGATAGGTGGGGGTGCGTGGAGGATGGAACACGGACGGCCCGGCTTGCTGCCTTCCCAGGCCTGCAGTTTGCCCATCCACGTCAGGGCCTCAGCCTGGCCGAAAGAAAGAAATGGTCTGTGATCCCCCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCATTCCCGGCTACAAGGACCCTTCGAGCCCCGTTCGCCGGCCGCGGACCCGGCCCCTCCCTCCCCGGCCGCTAGGGGGCGGGCCCGGATCACAGGACTGGAGCTGGGCGGAGACCCACGCTCGGAGCGGTTGTGAACTGGCAGGCGGTGGGCGCGGCTTCTGTGCCGTGCCCCGGGCACTCAGTCTTCCAACGGGGCCCCGGAGTCGAAGACAGTTCTAGGGTTCAGGGAGCGCGGGCGGCTCCTGGGCGGCGCCAGACTGCGGTGAGTTGGCCGGCGTGGGCCACCAACCCAATGCAGCCCAGGGCGGCGGCACGAGACAGAACAACGGCGAACAGGAGCAGGGAAAGCGCCTCCGATAGGCCAGGCCTAGGGACCTGCGGGGAGAGGGCGAGGTCAACACCCGGCATGGGCCTCTGATTGGCTCCTGGGACTCGCCCCGCCTACGCCCATAGGTGGGCCCGCAC
|
GGGGCAGAGGAAAGGTGGCAGCCGTCGGGGGGCCAGGCACCACTTGGGCCAGGGGCCCCAGGACCTCCTCTCCAAGGGCTGGTCCCGGAGCAGCCACCTGGGCCCCTTTGGTCTCAGGGGCCTCCGACTGAGCCTCCTCCAGCCGCACCTCCCCTGTCTGAGGGTCCAGGACCAGAGAGGTCTTGGTCTCGCTGGCCCCCTGAGGGCTGGGCTGCGGTGGAGGGGCACCCCCGCCCCCAGTGAGCAGCAGCGGGCCCAGGCTGGAGGCCTCGCCCAGGGCCAGGCCGTTGATGATGACGGGGCCCCCGTTGAGGAGCACTGCTGGGGAGCCGCTGGCTGCCAGGAAGCTCCCGTTCACCAGGATGGAGGAGGAAGCCGGGCAAGGCGCGGGAGGGCCGGTCCCTGCCAGGAATATGGAGCCCTGGGCAGCGGCCTCGGCGGACACTGGGGCCGCCCCTCTCTCCAGGTCCTCAGGACTTCGGCTGGACTCGTCCTCAGTCGTGGGATTCCCATCAGACTCGCTGGCCGGAGAAATGGCTGTCAGCTGGGGTCCCTTAGCCTGTGGGGCCTCCCGCATAGCCAGCCAGCTGCTCCCCCACCTTTCCCTGGCCCAAGTTTCGGTGGATCATTCCAGGGGTTATGACGCCTCTCTGAGACCACTCCAAACTCCAGGGCCTTTTGCAAGCCCTGCGTGGACACCACTGCAGAGAAGCGCTGGGGAGGGAAGAGGCCCTTGCTCTCCCCCACCTCGGCCTCGGGTCCCCAGAGGCTGAGCTCCCAGGTTGCCCTAAAAGTTCCTTGGTTGGGCGGAAAGCGGGCGAGTGGCCTGGAGAGAGGGAGCAGCAGCCGCCAGCCCAGTTCCCGGTGCCCTCCCCGCGGGGCGTCAGAGAAGGGAGAGGCCGGCGCTCAGGGTGGGAGGAGAAGGGTTTGGGTTACAGGGAAACCGGAGCTGGGAAAGGTTCACGTTTCACAACAAAGGCAGAAGACGGACCACGCCGTCCGGGCCCGGAGGGAGTGTGGGGGCGGGTGGGTAAGAGTAACGGTCAGTGAAGAAAGGGGGCTGGGAGGCAGCCCCTACGCGGAGTGGAGTGGCCACAGGCCCTGTCCTTTTTCCTCAGTCCCTCTAGTGCCCCCCGCAGTGTGATTCCCCAACACCGATGGGATTTGGGAAGGAGCTCGGAATGGAGCCGCTGGAAGAGGAGACGCGTGCGGGGAGAGGGCCCGGGCGGGTGCCTGTCCCGTCCACACTTAGTCCCCGCGCCCCGCGGGCGCCTGAGATTGTGAGCTGGTCCCGGGAGATGTCCGAGGACCTCGGCGCGCCGGCCCCAGCAGTGGGCACGGGGGAAGAGGGCTGGTGGACGGGATGTCCCCGGGAGAGCTGGACTTGCGCCGCCCGAGGCCCCTCACCTCTTGCAGGGCGCGCCGCCTCCGGCCCCGGTCCGGTCGCGCTGTCGCCGGTTCTTGAACCAGTTGCTGACCTGCGTGAGCGACAGGCCGGTGAGTGTGGCCAGGCGGCGCTTCTCGTCCGGCGTGGGGTAGCGGTTGCCGCGGTAGCAGGCCTTGAGCGCTGCGCGGGAGCGCTCCTTGAAGCAGTAGACTGTCTCCTCGCCGTCCCAGATGGTCTTGGGCAGCGGGAACTTCTTGCGCAGTCGATACTTGTCCACTGCGCCAAGCGCGCGGCCGCGGGCCCGCTCGGCCTCATGGTAGCGCGCGCGCAGGTAGAGGTCCTGCAGGAAGGCGTGGTGGGCGGCGGGGAAGGGGCGGCTCTCGAGTAGCCGGTAGAGCTCGGCGTACTCGCCCCGCTGGAAGGCCACCAGGGCCCGCGCGCGCAACACCGGGTCGCTGCCACGTAGGCGCTCGGCCGGGGGCAGTGCGCCCAGGAAGCGGCTCAAGCGGCCGGCGTGGCCCGCCTGGAGCAGCGCCTCGCAGACGCACGCCACCTGCTCGGGCGAGAAGCGGAGGCCCGTGGGCGGTTCGGAAGCGGCCTCGGGGGGCGACCCGGGGACGCCCGGGGATCCCGGGCCCTCAGCTCCCGCAGCCGCTGCGCCCGCCCCGGCCCCGGCCCCGGCCGCCGCCGCCGCCTCACCCTCGGCCGCCTGCAAAGTCTGCAAGAGCTGGCGCGCTTCCTCCTCCTCCTCTTCGGTCGCCGCCGCCGCCGCCACCGCCTCCCCCCCAGCCGCCGGCCCCGCGCTCGGCTCCGCAGGCAAGGTAGCCATGTTTTGCAACTTTGGGAAGTTCCTCCCTCCCTCTCTTCCTCCCTCGGGCTTTCCCCAGCCTCCTCCCCCACCTGTCCCCCCTTTTCGCCCCCACTCCCCGCTCTTCTCGATCTTCTTTCTGGCCGACCCTGCGCCCCACGCCGGGAAGGCGAGATCCAGCTCTCCACTCGGGTCTCTGTCCCCTTGTGTGTGTCCGTCCCCCTCCCGTCTGTCTGTGATTCTCCCTTTGTTTTCCCTCCGCCTCTGGCCGCGCTTTCTGCCTCCCCCCAGCGTGTGCTTCTGGCTCAGGGCCTCAGTTTCCCCATCGGGACAACGCAGAAGGTAACGGGCCGTCCAGGAGGACTAAGGGCGCGAAGCCTCCGCCCCGAGACTGAGCTTCTGCACGCCTCCGTCTCCAGGGTCCTCTGCAGGCCCCCACATTCCCCATCTCGGCCTGCGCTCCGCCCCTCGGAATTCCCGGCTCCGCAGGGGGGGCGGGTCTGGCCGGGAGGAGGGGCGGGGAACGGGCTAGAAAGTTTGCAGCAACTTTTCTCGAGCTTGCGTCCCAGGAGCGGATGCGCGTGGCGTGCGCAGGCGCAGTGGAAGGAGGATGGCCGCGCGCGCTGCCAGCCCAGCCCCCTCTTCTCGACGCTCGGTGGCACAGCTGGGCCACAGCTGGGCGGGGGCGGTGCCTCCGGGTGGCCCGCTCGCCCTCCTATTGGCCGGACGCCAAAGCCCCGCCCCGTGGCTTTTCCTCCCCCAACCCTGATTCGGCCGCTTCGCATCCCGCTAGCTCCTCCCAGACCTTCGGCCGCCTCCACACGCCTCCGGATTGGCCCGCTGCGGAGCCTCCGGCCCACAACGCAAACCGCGGACACTGTGGAGTCCAGAGCTTTGGGCAGATGGAGGGCCTTTTATTCGCGAGGGTCGGGGGTGGGGGTCCTAGGTGGGGACAGACAATAAATACCGAGGAATGTCGGGGTCTCAGTGCATCCAAAACGTGGATTGGGGTTGTTGGGGGTCCTGTAGCCTGTCAGCGAGTCGGAGGACGAGGTCAATAAATATCCAAACCGCCGAAGCGGGCGGAGCCGGCTGGGGCTCCGAGAGCAGCGCAAGTGAGGAGGGGGGCGCGGGATCCCCGAAAAAGCGGGTTTGGCAAAAGCAAATTTCCCGAGTAAGCAGGCAGAGATCGCGCCAGACGCTCCCCAGAGCAGGGCGTCATGCACAAGAAAGCTTTGCACTTTGCGAACCAACGATAGGTGGGGGTGCGTGGAGGATGGAACACGGACGGCCCGGCTTGCTGCCTTCCCAGGCCTGCAGTTTGCCCATCCACGTCAGGGCCTCAGCCTGGCCGAAAGAAAGAAATGGTCTGTGATCCCCCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCATTCCCGGCTACAAGGACCCTTCGAGCCCCGTTCGCCGGCCGCGGACCCGGCCCCTCCCTCCCCGGCCGCTAGGGGGCGGGCCCGGATCACAGGACTGGAGCTGGGCGGAGACCCACGCTCGGAGCGGTTGTGAACTGGCAGGCGGTGGGCGCGGCTTCTGTGCCGTGCCCCGGGCACTCAGTCTTCCAACGGGGCCCCGGAGTCGAAGACAGTTCTAGGGTTCAGGGAGCGCGGGCGGCTCCTGGGCGGCGCCAGACTGCGGTGAGTTGGCCGGCGTGGGCCACCAACCCAATGCAGCCCAGGGCGGCGGCACGAGACAGAACAACGGCGAACAGGAGCAGGGAAAGCGCCTCCGATAGGCCAGGCCTAGGGACCTGCGGGGAGAGGGCGAGGTCAACACCCGGCATGGGCCTCTGATTGGCTCCTGGGACTCGCCCCGCCTACGCCCATAGGTGGGC
|
benign
| 306,739 |
Does the variant impacting CALM3 (calmodulin 3) on chromosome 19, position 46608465, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
benign
|
CCCATCTCAAGTACACAGCCTTCCTTTACTCTCCTTCACATCACTTTATTTTCTTCATAACCTTTCTCGCTGTCTGAAATTATTTTCTTATGTCTTCACCTGTTGTATCTCCTGTTACTAGATGTGAGTTCCATTGAGTTTGGGACTTGGTTTTGTTGGTCCCTGCTATAGCCTTAATGCCTGCCTAGAACGTAGTAGGTCCTCCGCAAACTTTTGCTGGCTAAACAAACATCTCTCTCTCAGCAAGCTAGAAGAAATCCCTGGATCCCATCTAATTCATTTTTCTAACCCCTCCAAAACCCCAGAAGGGTCAGCTACAGGAACTATTGTGTAATTACAGATCCGTGCCTGCCTACCCGCCCATACTGAGCTGCCCGAGGACAGAGAGCAACTCTTGGTTTATCTCCATAGCCAGGGGCCAGCACACAGTAGACCAGAGTAGCGATCCAGAGAATGGGCCTCTGCTCCCCACCAGCTACCCAGCCCCCAGCTCTGCTGTCAGGTTCAACCGGCTGTGTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGGCTCAGGGCCACAGCTTCCCAGCTGTGCATGTCCCTCCCAATGCACCTGCCACCCATCTCCCAACTCTGGCCTTGTGCAACATAAACGGTCTGCTTTTCACCCTGTCCCCATTAGCAAACTGTCCACCGCCTCACCCCAGCCCACACCCTCTGGGAATAGGCTGCCGGACATCTGTTTTTGGAGGGCTTGGGGGTAGAGGAGCACCAGGTGCCAAAATGGGCCCAGTGGGAGGGCAAGAGCCATGTGCTTTTCTCCCTGCCCCTGATGCGGCCCCAGCTGTGGCCTTCCCACTCAGCACTGCTAGCTCCTCATCCTCCTGGCTTGGCAGCCGTCCCCTCGCTTTCCATCCCCCCATCAACCCCACGCACTGTCCGTCAGCCATGTTCTGCTGCCGACCACCCCCACGCTCACCACACGCAGTGGCTCAGCTCCTTTGGAAGCTGGTAGCACCCACGGCAAGGAACAGGGCTGCCAGTCAGAAGGGAGTGGATGCCTGCATTTCCTCTTCAGGCCGGCCAGAGGCATTCTGCAGCCTCCCCTCCTCGTCCCAGCCAGCCAACCCTGGCTAACACACTCAGACAAAGAATCCTTTCGGCTCTCATTCACTCCATGACTTTGGTTCATTTCATCATTTCAAGGGAGAAGTCAAAGCCAGGGACCAAACAGAAATGTAGAATCATCTAAGGACAGCTGTCAGACCATTTTCCCCACTGTCTTCACTGGCTGGCCAGAAAAATAGCTTCACCTAGCACAGTGTTGATGTTCAATAACTGTTGAATGAAGGTTGGAAGGGCTTTGCCCTGAGCACTGAGGAGAGAGAGCTGGTTGCGTGGGACTTGAAGTCTGTCTCAGTTTCTTTAGGTGGGACTGATGCCCTTGGCCTTCCTCCAGGGAAGGCATCCAGCATCCAGAGGTAAGGATTCTCCTGTGGACCTTGTGACCTCTGACTCCTCCCCCTTCTTCCCCCAGAGTTCAAGGAGGCCTTCTCCCTCTTTGACAAGGATGGAGATGGCACTATCACCACCAAGGAGTTGGGGACAGTGATGAGATCCCTGGGACAGAACCCCACTGAAGCAGAGCTGCAGGATATGATCAATGAGGTGGATGCAGATGGTGAGCCCCACAGAGCGCGTGGGCAGCCCTGCTCCTGGTCACCCCGAGTGACTGCAGGGAGCCTCTCTCAGGGTGATGGATGAGCCCGTGTCTCTCAGGGCCCAGGCCAAGAGCATTCTCCATCCTTTCCCCACCTTCCAGGGAACGGGACCATTGACTTCCCGGAGTTCCTGACCATGATGGCCAGAAAGATGAAGGACACAGACAGTGAGGAGGAGATCCGAGAGGCGTTCCGTGTCTTTGACAAGGTAAGCAGCCCTCTCCAGGGGCGGCTCTGAGACTGACGCCAGCCTTCAGGCAGACAGGCGGAACTGGAGCCACGGAGCTACCACTTCCAGGAGGTCCGGGTCCCGGTGCCAGCCTCATTGCCAACCTGCTCTGCCACCTCAGGCAGCCTCCCTCACTGTGCTCACTGCTGAGGGATGGTGATGACAGCCACCCCTCTCACTGCCTCTCTCCCCACCGGGAGAAGTGCCCAGTGAAAGGCTTTATCCCCAACCCCCAGGATGGGAATGGCTACATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATGAGATGATCAGGGAGGCTGACATCGATGGAGATGGCCAGGTCAATTATGAAGGTGAGTCAAGGCCAGGCTTGATCTCTGGAACAAGAAGAGAATCGCAGCTTCAGGAACAAGCCCCCAGATCCCTCTTGTTGGGGAGGGCCGCTCGCCACTTAGCCTGCCCGCCTGACCTCCTCTCTCTCTGCTTCACTCCACAGAGTTTGTACAGATGATGACTGCAAAGTGAAGGCCCCCCGGGCAGCTGGCGATGCCCGTTCTCTTGATCTCTCTCTTCTCGCGCGCGCACTCTCTCTTCAACACTCCCCTGCGTACCCCGGTTCTAGCAAACACCAATTGATTGACTGAGAATCTGATAAAGCAACAAAAGATTTGTCCCAAGCTGCATGATTGCTCTTTCTCCTTCTTCCCTGAGTCTCTCTCCATGCCCCTCATCTCTTCCTTTTGCCCTCGCCTCTTCCATCCATGTCTTCCAAGGCCTGATGCATTCATAAGTTGAAGCCCTCCCCAGATCCCCTTGGGGAGCCTCTGCCCTCCTCCAGCCCGGATGGCTCTCCTCCATTTTGGTTTGTTTCCTCTTGTTTGTCATCTTATTTTGGGTGCTGGGGTGGCTGCCAGCCCTGTCCCGGGACCTGCTGGGAGGGACAAGAGGCCCTCCCCCAGGCAGAAGAGCATGCCCTTTGCCGTTGCATGCAACCAGCCCTGTGATTCCACGTGCAGATCCCAGCAGCCTGTTGGGGCAGGGGTGCCAAGAGAGGCATTCCAGAAGGACTGAGGGGGCGTTGAGGAATTGTGGCGTTGACTGGATGTGGCCCAGGAGGGGGTCGAGGGGGCCAACTCACAGAAGGGGACTGACAGTGGGCAACACTCACATCCCACTGGCTGCTGTTCTGAAACCATCTGATTGGCTTTCTGAGGTTTGGCTGGGTGGGGACTGCTCATTTGGCCACTCTGCAAATTGGACTTGCCCGCGTTCCTGAAGCGCTCTCGAGCTGTTCTGTAAATACCTGGTGCTAACATCCCATGCCGCTCCCTCCTCACGATGCACCCACCGCCCTGAGGGCCCGTCCTAGGAATGGATGTGGGGATGGTCGCTTTGTAATGTGCTGGTTCTCTTTTTTTTTCTTTCCCCTCTATGGCCCTTAAGACTTTCATTTTGTTCAGAACCATGCTGGGCTAGCTAAAGGGTGGGGAGAGGGAAGATGGGCCCCACCACGCTCTCAAGAGAACGCACCTGCAATAAAACAGTCTTGTCGGCCAGCTGCCCAGGGGACGGCAGCTACAGCAGCCTCTGCGTCCTGGTCCGCCAGCACCTCCCGCTTCTCCGTGGTGACTTGGCGCCGCTTCCTCACATCTGTGCTCCGTGCCCTCTTCCCTGCCTCTTCCCTCGCCCACCTGCCTGCCCCCATACTCCCCCAGCGGAGAGCATGATCCGTGCCCTTGCTTCTGACTTTCGCCTCTGGGACAAGTAAGTCAATGTGGGCAGTTCAGTCGTCTGGGTTTTTTCCCCTTTTCTGTTCATTTCATCTGGCTCCCCCCACCACCTCCCCACCCCACCCCCCACCCCCTGCTTCCCCTCACTGCCCAG
|
CCCATCTCAAGTACACAGCCTTCCTTTACTCTCCTTCACATCACTTTATTTTCTTCATAACCTTTCTCGCTGTCTGAAATTATTTTCTTATGTCTTCACCTGTTGTATCTCCTGTTACTAGATGTGAGTTCCATTGAGTTTGGGACTTGGTTTTGTTGGTCCCTGCTATAGCCTTAATGCCTGCCTAGAACGTAGTAGGTCCTCCGCAAACTTTTGCTGGCTAAACAAACATCTCTCTCTCAGCAAGCTAGAAGAAATCCCTGGATCCCATCTAATTCATTTTTCTAACCCCTCCAAAACCCCAGAAGGGTCAGCTACAGGAACTATTGTGTAATTACAGATCCGTGCCTGCCTACCCGCCCATACTGAGCTGCCCGAGGACAGAGAGCAACTCTTGGTTTATCTCCATAGCCAGGGGCCAGCACACAGTAGACCAGAGTAGCGATCCAGAGAATGGGCCTCTGCTCCCCACCAGCTACCCAGCCCCCAGCTCTGCTGTCAGGTTCAACCGGCTGTGTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGGCTCAGGGCCACAGCTTCCCAGCTGTGCATGTCCCTCCCAATGCACCTGCCACCCATCTCCCAACTCTGGCCTTGTGCAACATAAACGGTCTGCTTTTCACCCTGTCCCCATTAGCAAACTGTCCACCGCCTCACCCCAGCCCACACCCTCTGGGAATAGGCTGCCGGACATCTGTTTTTGGAGGGCTTGGGGGTAGAGGAGCACCAGGTGCCAAAATGGGCCCAGTGGGAGGGCAAGAGCCATGTGCTTTTCTCCCTGCCCCTGATGCGGCCCCAGCTGTGGCCTTCCCACTCAGCACTGCTAGCTCCTCATCCTCCTGGCTTGGCAGCCGTCCCCTCGCTTTCCATCCCCCCATCAACCCCACGCACTGTCCGTCAGCCATGTTCTGCTGCCGACCACCCCCACGCTCACCACACGCAGTGGCTCAGCTCCTTTGGAAGCTGGTAGCACCCACGGCAAGGAACAGGGCTGCCAGTCAGAAGGGAGTGGATGCCTGCATTTCCTCTTCAGGCCGGCCAGAGGCATTCTGCAGCCTCCCCTCCTCGTCCCAGCCAGCCAACCCTGGCTAACACACTCAGACAAAGAATCCTTTCGGCTCTCATTCACTCCATGACTTTGGTTCATTTCATCATTTCAAGGGAGAAGTCAAAGCCAGGGACCAAACAGAAATGTAGAATCATCTAAGGACAGCTGTCAGACCATTTTCCCCACTGTCTTCACTGGCTGGCCAGAAAAATAGCTTCACCTAGCACAGTGTTGATGTTCAATAACTGTTGAATGAAGGTTGGAAGGGCTTTGCCCTGAGCACTGAGGAGAGAGAGCTGGTTGCGTGGGACTTGAAGTCTGTCTCAGTTTCTTTAGGTGGGACTGATGCCCTTGGCCTTCCTCCAGGGAAGGCATCCAGCATCCAGAGGTAAGGATTCTCCTGTGGACCTTGTGACCTCTGACTCCTCCCCCTTCTTCCCCCAGAGTTCAAGGAGGCCTTCTCCCTCTTTGACAAGGATGGAGATGGCACTATCACCACCAAGGAGTTGGGGACAGTGATGAGATCCCTGGGACAGAACCCCACTGAAGCAGAGCTGCAGGATATGATCAATGAGGTGGATGCAGATGGTGAGCCCCACAGAGCGCGTGGGCAGCCCTGCTCCTGGTCACCCCGAGTGACTGCAGGGAGCCTCTCTCAGGGTGATGGATGAGCCCGTGTCTCTCAGGGCCCAGGCCAAGAGCATTCTCCATCCTTCCCCACCTTCCAGGGAACGGGACCATTGACTTCCCGGAGTTCCTGACCATGATGGCCAGAAAGATGAAGGACACAGACAGTGAGGAGGAGATCCGAGAGGCGTTCCGTGTCTTTGACAAGGTAAGCAGCCCTCTCCAGGGGCGGCTCTGAGACTGACGCCAGCCTTCAGGCAGACAGGCGGAACTGGAGCCACGGAGCTACCACTTCCAGGAGGTCCGGGTCCCGGTGCCAGCCTCATTGCCAACCTGCTCTGCCACCTCAGGCAGCCTCCCTCACTGTGCTCACTGCTGAGGGATGGTGATGACAGCCACCCCTCTCACTGCCTCTCTCCCCACCGGGAGAAGTGCCCAGTGAAAGGCTTTATCCCCAACCCCCAGGATGGGAATGGCTACATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATGAGATGATCAGGGAGGCTGACATCGATGGAGATGGCCAGGTCAATTATGAAGGTGAGTCAAGGCCAGGCTTGATCTCTGGAACAAGAAGAGAATCGCAGCTTCAGGAACAAGCCCCCAGATCCCTCTTGTTGGGGAGGGCCGCTCGCCACTTAGCCTGCCCGCCTGACCTCCTCTCTCTCTGCTTCACTCCACAGAGTTTGTACAGATGATGACTGCAAAGTGAAGGCCCCCCGGGCAGCTGGCGATGCCCGTTCTCTTGATCTCTCTCTTCTCGCGCGCGCACTCTCTCTTCAACACTCCCCTGCGTACCCCGGTTCTAGCAAACACCAATTGATTGACTGAGAATCTGATAAAGCAACAAAAGATTTGTCCCAAGCTGCATGATTGCTCTTTCTCCTTCTTCCCTGAGTCTCTCTCCATGCCCCTCATCTCTTCCTTTTGCCCTCGCCTCTTCCATCCATGTCTTCCAAGGCCTGATGCATTCATAAGTTGAAGCCCTCCCCAGATCCCCTTGGGGAGCCTCTGCCCTCCTCCAGCCCGGATGGCTCTCCTCCATTTTGGTTTGTTTCCTCTTGTTTGTCATCTTATTTTGGGTGCTGGGGTGGCTGCCAGCCCTGTCCCGGGACCTGCTGGGAGGGACAAGAGGCCCTCCCCCAGGCAGAAGAGCATGCCCTTTGCCGTTGCATGCAACCAGCCCTGTGATTCCACGTGCAGATCCCAGCAGCCTGTTGGGGCAGGGGTGCCAAGAGAGGCATTCCAGAAGGACTGAGGGGGCGTTGAGGAATTGTGGCGTTGACTGGATGTGGCCCAGGAGGGGGTCGAGGGGGCCAACTCACAGAAGGGGACTGACAGTGGGCAACACTCACATCCCACTGGCTGCTGTTCTGAAACCATCTGATTGGCTTTCTGAGGTTTGGCTGGGTGGGGACTGCTCATTTGGCCACTCTGCAAATTGGACTTGCCCGCGTTCCTGAAGCGCTCTCGAGCTGTTCTGTAAATACCTGGTGCTAACATCCCATGCCGCTCCCTCCTCACGATGCACCCACCGCCCTGAGGGCCCGTCCTAGGAATGGATGTGGGGATGGTCGCTTTGTAATGTGCTGGTTCTCTTTTTTTTTCTTTCCCCTCTATGGCCCTTAAGACTTTCATTTTGTTCAGAACCATGCTGGGCTAGCTAAAGGGTGGGGAGAGGGAAGATGGGCCCCACCACGCTCTCAAGAGAACGCACCTGCAATAAAACAGTCTTGTCGGCCAGCTGCCCAGGGGACGGCAGCTACAGCAGCCTCTGCGTCCTGGTCCGCCAGCACCTCCCGCTTCTCCGTGGTGACTTGGCGCCGCTTCCTCACATCTGTGCTCCGTGCCCTCTTCCCTGCCTCTTCCCTCGCCCACCTGCCTGCCCCCATACTCCCCCAGCGGAGAGCATGATCCGTGCCCTTGCTTCTGACTTTCGCCTCTGGGACAAGTAAGTCAATGTGGGCAGTTCAGTCGTCTGGGTTTTTTCCCCTTTTCTGTTCATTTCATCTGGCTCCCCCCACCACCTCCCCACCCCACCCCCCACCCCCTGCTTCCCCTCACTGCCCAGN
|
benign
| 306,797 |
Chromosome 19, position 46609100, gene CALM3 (calmodulin 3): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
benign
|
GGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGGCTCAGGGCCACAGCTTCCCAGCTGTGCATGTCCCTCCCAATGCACCTGCCACCCATCTCCCAACTCTGGCCTTGTGCAACATAAACGGTCTGCTTTTCACCCTGTCCCCATTAGCAAACTGTCCACCGCCTCACCCCAGCCCACACCCTCTGGGAATAGGCTGCCGGACATCTGTTTTTGGAGGGCTTGGGGGTAGAGGAGCACCAGGTGCCAAAATGGGCCCAGTGGGAGGGCAAGAGCCATGTGCTTTTCTCCCTGCCCCTGATGCGGCCCCAGCTGTGGCCTTCCCACTCAGCACTGCTAGCTCCTCATCCTCCTGGCTTGGCAGCCGTCCCCTCGCTTTCCATCCCCCCATCAACCCCACGCACTGTCCGTCAGCCATGTTCTGCTGCCGACCACCCCCACGCTCACCACACGCAGTGGCTCAGCTCCTTTGGAAGCTGGTAGCACCCACGGCAAGGAACAGGGCTGCCAGTCAGAAGGGAGTGGATGCCTGCATTTCCTCTTCAGGCCGGCCAGAGGCATTCTGCAGCCTCCCCTCCTCGTCCCAGCCAGCCAACCCTGGCTAACACACTCAGACAAAGAATCCTTTCGGCTCTCATTCACTCCATGACTTTGGTTCATTTCATCATTTCAAGGGAGAAGTCAAAGCCAGGGACCAAACAGAAATGTAGAATCATCTAAGGACAGCTGTCAGACCATTTTCCCCACTGTCTTCACTGGCTGGCCAGAAAAATAGCTTCACCTAGCACAGTGTTGATGTTCAATAACTGTTGAATGAAGGTTGGAAGGGCTTTGCCCTGAGCACTGAGGAGAGAGAGCTGGTTGCGTGGGACTTGAAGTCTGTCTCAGTTTCTTTAGGTGGGACTGATGCCCTTGGCCTTCCTCCAGGGAAGGCATCCAGCATCCAGAGGTAAGGATTCTCCTGTGGACCTTGTGACCTCTGACTCCTCCCCCTTCTTCCCCCAGAGTTCAAGGAGGCCTTCTCCCTCTTTGACAAGGATGGAGATGGCACTATCACCACCAAGGAGTTGGGGACAGTGATGAGATCCCTGGGACAGAACCCCACTGAAGCAGAGCTGCAGGATATGATCAATGAGGTGGATGCAGATGGTGAGCCCCACAGAGCGCGTGGGCAGCCCTGCTCCTGGTCACCCCGAGTGACTGCAGGGAGCCTCTCTCAGGGTGATGGATGAGCCCGTGTCTCTCAGGGCCCAGGCCAAGAGCATTCTCCATCCTTTCCCCACCTTCCAGGGAACGGGACCATTGACTTCCCGGAGTTCCTGACCATGATGGCCAGAAAGATGAAGGACACAGACAGTGAGGAGGAGATCCGAGAGGCGTTCCGTGTCTTTGACAAGGTAAGCAGCCCTCTCCAGGGGCGGCTCTGAGACTGACGCCAGCCTTCAGGCAGACAGGCGGAACTGGAGCCACGGAGCTACCACTTCCAGGAGGTCCGGGTCCCGGTGCCAGCCTCATTGCCAACCTGCTCTGCCACCTCAGGCAGCCTCCCTCACTGTGCTCACTGCTGAGGGATGGTGATGACAGCCACCCCTCTCACTGCCTCTCTCCCCACCGGGAGAAGTGCCCAGTGAAAGGCTTTATCCCCAACCCCCAGGATGGGAATGGCTACATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATGAGATGATCAGGGAGGCTGACATCGATGGAGATGGCCAGGTCAATTATGAAGGTGAGTCAAGGCCAGGCTTGATCTCTGGAACAAGAAGAGAATCGCAGCTTCAGGAACAAGCCCCCAGATCCCTCTTGTTGGGGAGGGCCGCTCGCCACTTAGCCTGCCCGCCTGACCTCCTCTCTCTCTGCTTCACTCCACAGAGTTTGTACAGATGATGACTGCAAAGTGAAGGCCCCCCGGGCAGCTGGCGATGCCCGTTCTCTTGATCTCTCTCTTCTCGCGCGCGCACTCTCTCTTCAACACTCCCCTGCGTACCCCGGTTCTAGCAAACACCAATTGATTGACTGAGAATCTGATAAAGCAACAAAAGATTTGTCCCAAGCTGCATGATTGCTCTTTCTCCTTCTTCCCTGAGTCTCTCTCCATGCCCCTCATCTCTTCCTTTTGCCCTCGCCTCTTCCATCCATGTCTTCCAAGGCCTGATGCATTCATAAGTTGAAGCCCTCCCCAGATCCCCTTGGGGAGCCTCTGCCCTCCTCCAGCCCGGATGGCTCTCCTCCATTTTGGTTTGTTTCCTCTTGTTTGTCATCTTATTTTGGGTGCTGGGGTGGCTGCCAGCCCTGTCCCGGGACCTGCTGGGAGGGACAAGAGGCCCTCCCCCAGGCAGAAGAGCATGCCCTTTGCCGTTGCATGCAACCAGCCCTGTGATTCCACGTGCAGATCCCAGCAGCCTGTTGGGGCAGGGGTGCCAAGAGAGGCATTCCAGAAGGACTGAGGGGGCGTTGAGGAATTGTGGCGTTGACTGGATGTGGCCCAGGAGGGGGTCGAGGGGGCCAACTCACAGAAGGGGACTGACAGTGGGCAACACTCACATCCCACTGGCTGCTGTTCTGAAACCATCTGATTGGCTTTCTGAGGTTTGGCTGGGTGGGGACTGCTCATTTGGCCACTCTGCAAATTGGACTTGCCCGCGTTCCTGAAGCGCTCTCGAGCTGTTCTGTAAATACCTGGTGCTAACATCCCATGCCGCTCCCTCCTCACGATGCACCCACCGCCCTGAGGGCCCGTCCTAGGAATGGATGTGGGGATGGTCGCTTTGTAATGTGCTGGTTCTCTTTTTTTTTCTTTCCCCTCTATGGCCCTTAAGACTTTCATTTTGTTCAGAACCATGCTGGGCTAGCTAAAGGGTGGGGAGAGGGAAGATGGGCCCCACCACGCTCTCAAGAGAACGCACCTGCAATAAAACAGTCTTGTCGGCCAGCTGCCCAGGGGACGGCAGCTACAGCAGCCTCTGCGTCCTGGTCCGCCAGCACCTCCCGCTTCTCCGTGGTGACTTGGCGCCGCTTCCTCACATCTGTGCTCCGTGCCCTCTTCCCTGCCTCTTCCCTCGCCCACCTGCCTGCCCCCATACTCCCCCAGCGGAGAGCATGATCCGTGCCCTTGCTTCTGACTTTCGCCTCTGGGACAAGTAAGTCAATGTGGGCAGTTCAGTCGTCTGGGTTTTTTCCCCTTTTCTGTTCATTTCATCTGGCTCCCCCCACCACCTCCCCACCCCACCCCCCACCCCCTGCTTCCCCTCACTGCCCAGGTCGATCAAGTGGCTTTTCCTGGGACCTGCCCAGCTTTGAGAATCTCTTCTCATCCACCCTCTGGCACCCAGCCTCTGAGGGAAGGAGGGATGGGGCATAGTGGGAGACCCAGCCAAGAGCTGAGGGTAAGGGCAGGTAGGCGTGAGGCTGTGGACATTTTCGGAATGTTTTGGTTTTGTTTTTTTTAAACCGGGCAATATTGTGTTCAGTTCAAGCTGTGAAGAAAAATATATATCAATGTTTTCCAATAAAATACAGTGACTACCTGATTTGGCTCCTCTCCTCCTGTCTCAGTTTCTGGCCTGCCCCCCTCCAACACACATACACACCAACCCCAGCACTGACTCCTTTGGCCCAGAGGTGGAAGAGCCTCTCCTCAAAGCTGGCTCTGAAGCTGTGTCCAGTCAGTGCAGCCCAGTGGACGCCTCTGAACCACAGTTCTGATCCCAGCTAGATCGCAGGGTCATCAACGGCAGGGTCCTGTCCTAGAGATAGTCGCACAAATGGACTGAAAGGCGGGGACTGAGAAGGCTCCTCTGAGGCAGGCCCATCATGCCATGGGAGCACACAGAGAAGGGGTCAGCCCAGTCAGGTGGCAGGACTGAGCTGAGACCTACCTGAAAGATGGGCAGTC
|
GGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGGCTCAGGGCCACAGCTTCCCAGCTGTGCATGTCCCTCCCAATGCACCTGCCACCCATCTCCCAACTCTGGCCTTGTGCAACATAAACGGTCTGCTTTTCACCCTGTCCCCATTAGCAAACTGTCCACCGCCTCACCCCAGCCCACACCCTCTGGGAATAGGCTGCCGGACATCTGTTTTTGGAGGGCTTGGGGGTAGAGGAGCACCAGGTGCCAAAATGGGCCCAGTGGGAGGGCAAGAGCCATGTGCTTTTCTCCCTGCCCCTGATGCGGCCCCAGCTGTGGCCTTCCCACTCAGCACTGCTAGCTCCTCATCCTCCTGGCTTGGCAGCCGTCCCCTCGCTTTCCATCCCCCCATCAACCCCACGCACTGTCCGTCAGCCATGTTCTGCTGCCGACCACCCCCACGCTCACCACACGCAGTGGCTCAGCTCCTTTGGAAGCTGGTAGCACCCACGGCAAGGAACAGGGCTGCCAGTCAGAAGGGAGTGGATGCCTGCATTTCCTCTTCAGGCCGGCCAGAGGCATTCTGCAGCCTCCCCTCCTCGTCCCAGCCAGCCAACCCTGGCTAACACACTCAGACAAAGAATCCTTTCGGCTCTCATTCACTCCATGACTTTGGTTCATTTCATCATTTCAAGGGAGAAGTCAAAGCCAGGGACCAAACAGAAATGTAGAATCATCTAAGGACAGCTGTCAGACCATTTTCCCCACTGTCTTCACTGGCTGGCCAGAAAAATAGCTTCACCTAGCACAGTGTTGATGTTCAATAACTGTTGAATGAAGGTTGGAAGGGCTTTGCCCTGAGCACTGAGGAGAGAGAGCTGGTTGCGTGGGACTTGAAGTCTGTCTCAGTTTCTTTAGGTGGGACTGATGCCCTTGGCCTTCCTCCAGGGAAGGCATCCAGCATCCAGAGGTAAGGATTCTCCTGTGGACCTTGTGACCTCTGACTCCTCCCCCTTCTTCCCCCAGAGTTCAAGGAGGCCTTCTCCCTCTTTGACAAGGATGGAGATGGCACTATCACCACCAAGGAGTTGGGGACAGTGATGAGATCCCTGGGACAGAACCCCACTGAAGCAGAGCTGCAGGATATGATCAATGAGGTGGATGCAGATGGTGAGCCCCACAGAGCGCGTGGGCAGCCCTGCTCCTGGTCACCCCGAGTGACTGCAGGGAGCCTCTCTCAGGGTGATGGATGAGCCCGTGTCTCTCAGGGCCCAGGCCAAGAGCATTCTCCATCCTTTCCCCACCTTCCAGGGAACGGGACCATTGACTTCCCGGAGTTCCTGACCATGATGGCCAGAAAGATGAAGGACACAGACAGTGAGGAGGAGATCCGAGAGGCGTTCCGTGTCTTTGACAAGGTAAGCAGCCCTCTCCAGGGGCGGCTCTGAGACTGACGCCAGCCTTCAGGCAGACAGGCGGAACTGGAGCCACGGAGCTACCACTTCCAGGAGGTCCGGGTCCCGGTGCCAGCCTCATTGCCAACCTGCTCTGCCACCTCAGGCAGCCTCCCTCACTGTGCTCACTGCTGAGGGATGGTGATGACAGCCACCCCTCTCACTGCCTCTCTCCCCACCGGGAGAAGTGCCCAGTGAAAGGCTTTATCCCCAACCCCCAGGATGGGAATGGCTACATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATGAGATGATCAGGGAGGCTGACATCGATGGAGATGGCCAGGTCAATTATGAAGGTGAGTCAAGGCCAGGCTTGATCTCTGGAACAAGAAGAGAATCGCAGCTTCAGGAACAAGCCCCCAGATCCCTCTTGTTGGGGAGGGCCGCTCGCCACTTAGCCTGCCCGCCTGACCTCCTCTCTCTGCTTCACTCCACAGAGTTTGTACAGATGATGACTGCAAAGTGAAGGCCCCCCGGGCAGCTGGCGATGCCCGTTCTCTTGATCTCTCTCTTCTCGCGCGCGCACTCTCTCTTCAACACTCCCCTGCGTACCCCGGTTCTAGCAAACACCAATTGATTGACTGAGAATCTGATAAAGCAACAAAAGATTTGTCCCAAGCTGCATGATTGCTCTTTCTCCTTCTTCCCTGAGTCTCTCTCCATGCCCCTCATCTCTTCCTTTTGCCCTCGCCTCTTCCATCCATGTCTTCCAAGGCCTGATGCATTCATAAGTTGAAGCCCTCCCCAGATCCCCTTGGGGAGCCTCTGCCCTCCTCCAGCCCGGATGGCTCTCCTCCATTTTGGTTTGTTTCCTCTTGTTTGTCATCTTATTTTGGGTGCTGGGGTGGCTGCCAGCCCTGTCCCGGGACCTGCTGGGAGGGACAAGAGGCCCTCCCCCAGGCAGAAGAGCATGCCCTTTGCCGTTGCATGCAACCAGCCCTGTGATTCCACGTGCAGATCCCAGCAGCCTGTTGGGGCAGGGGTGCCAAGAGAGGCATTCCAGAAGGACTGAGGGGGCGTTGAGGAATTGTGGCGTTGACTGGATGTGGCCCAGGAGGGGGTCGAGGGGGCCAACTCACAGAAGGGGACTGACAGTGGGCAACACTCACATCCCACTGGCTGCTGTTCTGAAACCATCTGATTGGCTTTCTGAGGTTTGGCTGGGTGGGGACTGCTCATTTGGCCACTCTGCAAATTGGACTTGCCCGCGTTCCTGAAGCGCTCTCGAGCTGTTCTGTAAATACCTGGTGCTAACATCCCATGCCGCTCCCTCCTCACGATGCACCCACCGCCCTGAGGGCCCGTCCTAGGAATGGATGTGGGGATGGTCGCTTTGTAATGTGCTGGTTCTCTTTTTTTTTCTTTCCCCTCTATGGCCCTTAAGACTTTCATTTTGTTCAGAACCATGCTGGGCTAGCTAAAGGGTGGGGAGAGGGAAGATGGGCCCCACCACGCTCTCAAGAGAACGCACCTGCAATAAAACAGTCTTGTCGGCCAGCTGCCCAGGGGACGGCAGCTACAGCAGCCTCTGCGTCCTGGTCCGCCAGCACCTCCCGCTTCTCCGTGGTGACTTGGCGCCGCTTCCTCACATCTGTGCTCCGTGCCCTCTTCCCTGCCTCTTCCCTCGCCCACCTGCCTGCCCCCATACTCCCCCAGCGGAGAGCATGATCCGTGCCCTTGCTTCTGACTTTCGCCTCTGGGACAAGTAAGTCAATGTGGGCAGTTCAGTCGTCTGGGTTTTTTCCCCTTTTCTGTTCATTTCATCTGGCTCCCCCCACCACCTCCCCACCCCACCCCCCACCCCCTGCTTCCCCTCACTGCCCAGGTCGATCAAGTGGCTTTTCCTGGGACCTGCCCAGCTTTGAGAATCTCTTCTCATCCACCCTCTGGCACCCAGCCTCTGAGGGAAGGAGGGATGGGGCATAGTGGGAGACCCAGCCAAGAGCTGAGGGTAAGGGCAGGTAGGCGTGAGGCTGTGGACATTTTCGGAATGTTTTGGTTTTGTTTTTTTTAAACCGGGCAATATTGTGTTCAGTTCAAGCTGTGAAGAAAAATATATATCAATGTTTTCCAATAAAATACAGTGACTACCTGATTTGGCTCCTCTCCTCCTGTCTCAGTTTCTGGCCTGCCCCCCTCCAACACACATACACACCAACCCCAGCACTGACTCCTTTGGCCCAGAGGTGGAAGAGCCTCTCCTCAAAGCTGGCTCTGAAGCTGTGTCCAGTCAGTGCAGCCCAGTGGACGCCTCTGAACCACAGTTCTGATCCCAGCTAGATCGCAGGGTCATCAACGGCAGGGTCCTGTCCTAGAGATAGTCGCACAAATGGACTGAAAGGCGGGGACTGAGAAGGCTCCTCTGAGGCAGGCCCATCATGCCATGGGAGCACACAGAGAAGGGGTCAGCCCAGTCAGGTGGCAGGACTGAGCTGAGACCTACCTGAAAGATGGGCAGTCNN
|
benign
| 306,816 |
Considering the variant on chromosome 19, location 46755605, involving gene FKRP (fukutin related protein), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Cardiovascular_phenotype', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy']
|
TGGAATGGGGGGCAGACAAGGGGAATGTCAGAAGCAGCTTCCACTTTCTCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTATTTGATCATCTGCTTGGAACCCAGAGCTATACCACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCC
|
TGGAATGGGGGGCAGACAAGGGGAATGTCAGAAGCAGCTTCCACTTTCTCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTATTTGATCATCTGCTTGGAACCCAGAGCTATACCACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGA
|
pathogenic
| 306,847 |
For chromosome 19, position 46755609, gene FKRP (fukutin related protein): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Walker-Warburg_congenital_muscular_dystrophy']
|
ATGGGGGGCAGACAAGGGGAATGTCAGAAGCAGCTTCCACTTTCTCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTATTTGATCATCTGCTTGGAACCCAGAGCTATACCACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCC
|
ATGGGGGGCAGACAAGGGGAATGTCAGAAGCAGCTTCCACTTTCTCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTATTTGATCATCTGCTTGGAACCCAGAGCTATACCACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTTTGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCC
|
pathogenic
| 306,848 |
Assess the variant on chromosome 19, position 46755610, impacting FKRP (fukutin related protein): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Cardiovascular_phenotype', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Muscular_dystrophy-dystroglycanopathy_type_B5', 'Walker-Warburg_congenital_muscular_dystrophy']
|
TGGGGGGCAGACAAGGGGAATGTCAGAAGCAGCTTCCACTTTCTCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTATTTGATCATCTGCTTGGAACCCAGAGCTATACCACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCC
|
TGGGGGGCAGACAAGGGGAATGTCAGAAGCAGCTTCCACTTTCTCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTATTTGATCATCTGCTTGGAACCCAGAGCTATACCACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCT
|
pathogenic
| 306,849 |
Evaluate the clinical significance of the mutation at chromosome 19, position 46755653 in gene FKRP (fukutin related protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy']
|
TCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTATTTGATCATCTGCTTGGAACCCAGAGCTATACCACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTC
|
TCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTATTTGATCATCTGCTTGGAACCCAGAGCTATACCACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCNNN
|
pathogenic
| 306,853 |
A genetic variant on chromosome 19, position 46755671, affects the gene FKRP (fukutin related protein). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Walker-Warburg_congenital_muscular_dystrophy']
|
CCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTATTTGATCATCTGCTTGGAACCCAGAGCTATACCACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGA
|
CCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTATTTGATCATCTGCTTGGAACCCAGAGCTATACCACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGA
|
pathogenic
| 306,858 |
Evaluate this variant at chromosome 19, position 46755895, gene FKRP (fukutin related protein): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy']
|
ACCTACAAAAAGCCTTCATGGGGAAATTATTTGATCATCTGCTTGGAACCCAGAGCTATACCACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATC
|
ACCTACAAAAAGCCTTCATGGGGAAATTATTTGATCATCTGCTTGGAACCCAGAGCTATACCACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCNNNNN
|
pathogenic
| 306,872 |
For chromosome 19, position 46755957, gene FKRP (fukutin related protein): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy']
|
ACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGC
|
ACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCNNNNNNNNNNNNN
|
pathogenic
| 306,878 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 46755985, gene FKRP (fukutin related protein). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Muscular_dystrophy-dystroglycanopathy_type_B5', 'Walker-Warburg_congenital_muscular_dystrophy']
|
CTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTC
|
CTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACT
|
pathogenic
| 306,882 |
Is the chromosome 19, position 46756100 variant in FKRP (fukutin related protein) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Cardiovascular_phenotype', 'Walker-Warburg_congenital_muscular_dystrophy']
|
GTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTAC
|
GTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATT
|
pathogenic
| 306,894 |
Is the chromosome 19, position 46756103 variant in FKRP (fukutin related protein) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Cardiovascular_phenotype', 'Walker-Warburg_congenital_muscular_dystrophy']
|
TTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACA
|
TTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAN
|
pathogenic
| 306,897 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 46756124, gene FKRP (fukutin related protein): what disease(s) if pathogenic?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Walker-Warburg_congenital_muscular_dystrophy']
|
TGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGA
|
TGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAN
|
pathogenic
| 306,898 |
Is the genetic change at chromosome 19, position 46756135, within gene FKRP (fukutin related protein) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Cardiovascular_phenotype', 'Walker-Warburg_congenital_muscular_dystrophy']
|
CTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTC
|
CTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCN
|
pathogenic
| 306,899 |
Gene FKRP (fukutin related protein) variant at chromosome 19, position 46756161—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy']
|
TGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGG
|
TGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGNN
|
pathogenic
| 306,902 |
Does the variant impacting FKRP (fukutin related protein) on chromosome 19, position 46756241, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy']
|
CACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAG
|
CACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGNNNNNNNNNNNNNNNNN
|
pathogenic
| 306,911 |
Located at chromosome 19 position 46756243, the variant affecting gene FKRP (fukutin related protein)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Walker-Warburg_congenital_muscular_dystrophy']
|
CACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTC
|
CACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCN
|
pathogenic
| 306,912 |
Determine whether the variant at chromosome 19, position 46756392, in gene FKRP (fukutin related protein) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Muscular_dystrophy-dystroglycanopathy_type_B5', 'Walker-Warburg_congenital_muscular_dystrophy']
|
ACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATT
|
ACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTN
|
pathogenic
| 306,933 |
Variant on chromosome 19, at position 46756398, affecting FKRP (fukutin related protein): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Muscular_dystrophy-dystroglycanopathy_type_B5', 'Walker-Warburg_congenital_muscular_dystrophy']
|
GTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGT
|
GTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTN
|
pathogenic
| 306,938 |
Located at chromosome 19 position 46756406, the variant affecting gene FKRP (fukutin related protein)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Walker-Warburg_congenital_muscular_dystrophy']
|
TTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGT
|
TTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTNN
|
pathogenic
| 306,939 |
Is the chromosome 19, position 46756585 variant in FKRP (fukutin related protein) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy']
|
GTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCA
|
GTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCC
|
pathogenic
| 306,964 |
Variant in FKRP (fukutin related protein), chromosome 19, position 46756585—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Walker-Warburg_congenital_muscular_dystrophy']
|
GTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCA
|
GTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAN
|
pathogenic
| 306,965 |
Subsets and Splits
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