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 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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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