Datasets:
wanglab
/
variant_effect_non_snv

Dataset card Data Studio Files
xet
Community
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
Variant in KCNQ1 (potassium voltage-gated channel subfamily Q member 1), chromosome 11, position 2570748—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Long_QT_syndrome', 'Long_QT_syndrome_1']
CTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGG
CTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGNNNNNNNNNNN
pathogenic
170,593
Does the variant on chromosome 11 at location 2571373 affecting gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
pathogenic; ['Long_QT_syndrome']
CCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGC
CCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGG
pathogenic
170,614
Clinical significance of chromosome 11, position 2572019, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1): benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Long_QT_syndrome']
TCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCA
TCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCT
pathogenic
170,629
A mutation at chromosome position 2572033 on chromosome 11 in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Long_QT_syndrome']
AAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAGGGCTGCTTCTAG
AAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAGGGCTGCTTCTAGN
pathogenic
170,634
Classify the chromosome 11 variant at position 2572061 affecting gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) as benign or pathogenic. If pathogenic, which disease(s) is associated?
pathogenic; ['Long_QT_syndrome']
GGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAGGGCTGCTTCTAGGGGGAACACGTGGGTACCCCGAGGGGAG
GGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAGGGCTGCTTCTAGGGGGAACACGTGGGTACCCCGAGGGGAGNNNNNNNNNN
pathogenic
170,645
Determine if the mutation at chromosome 11, position 2572068 in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) is benign or pathogenic. If pathogenic, what disease(s) is associated?
pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_1']
CAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAGGGCTGCTTCTAGGGGGAACACGTGGGTACCCCGAGGGGAGTAGCTGG
CAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAGGGCTGCTTCTAGGGGGAACACGTGGGTACCCCGAGGGGAGTAGCTGGNNNNNNNNNN
pathogenic
170,646
Clinical classification of chromosome 11, position 2572072, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1): benign or pathogenic? Disease(s) if pathogenic?
pathogenic; ['Cardiac_arrhythmia', 'Long_QT_syndrome']
CTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAGGGCTGCTTCTAGGGGGAACACGTGGGTACCCCGAGGGGAGTAGCTGGCTGG
CTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAGGGCTGCTTCTAGGGGGAACACGTGGGTACCCCGAGGGGAGTAGCTGGCT
pathogenic
170,648
The mutation in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) at chromosome 11, position 2572099—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Atrial_fibrillation,_familial,_3', 'Jervell_and_Lange-Nielsen_syndrome_1', 'Long_QT_syndrome', 'Long_QT_syndrome_1', 'Short_QT_syndrome_type_2']
GGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAGGGCTGCTTCTAGGGGGAACACGTGGGTACCCCGAGGGGAGTAGCTGGCTGGAGGCCAGAGTGCAGGGAGGGAATGACT
GGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAGGGCTGCTTCTAGGGGGAACACGTGGGTACCCCGAGGGGAGTAGCTGGCTGGAGGCCAGAGTGCAGGGAGGGAA
pathogenic
170,651
Does the genetic variant at chromosome 11, position 2572826, impacting gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), appear benign or pathogenic? If pathogenic, name the associated disease(s).
benign
GGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAGGGCTGCTTCTAGGGGGAACACGTGGGTACCCCGAGGGGAGTAGCTGGCTGGAGGCCAGAGTGCAGGGAGGGAATGACTCCATCCCATCTCCCCCCACAGCTGCAGGGCCAGGTGGGCCGTCCACAGGCCACTAAGGCCCAGGGTGGCACCATCACACCTTGGGGAGTGGCCCTGGGTGGGGACCGAGAAGCCCAAGTGCCGAGGTGACAGGGTGACCCCTACTCTGCCGCCACAAGCCTGCCCCCGCGTCTGCCCTTGTCTACCGACCTCCGGGCTCACTCAGTCCGATAACAGGTTAGATGGAATCGTGGTAGCAACAGGGGCTGGGGGCTGGGGAGGAGGCCGTCGAAGCCCACACAGGGTGGGAGCCAAGGCCTGGGGGCCGCACGGGGGCTGGAGGTGGGGGCGGGCAGGGCAGCCGTGGGAAACACGTGGTGGTGCCAGGACCCAGTCCGTCTGCCCCGAGTCCTCCTTCCAGAAAGGACCGGACTTGCTGGCTCTCGGGACCCCCCACCACCATCAGAGCATATCTGGGTGGGGTGAGAAGCCTCCCGGTGGCTCCCCAGGCAGGCACGTGTCCCTGCGATTGCTGTGCCTCCTCCCTCCCCCTCAACCGCCGCTTCCCCCATGAGGCCAGACACTCAGCAGTGGCTCCTGACGTAGGCCAAGTCAGCAGGTTTTCTGGAAGCTTCCAAAGTGCTGCAATGCTCAGGGATGGCAGGGGCATGCTGACACAGCTCCTGGGTTGGGGCAGGCCCCACTTTCGGCCTCTTCCCGCCTTCCTGGGGGCCTGTGTCCCCGAAGG
GGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAGGGCTGCTTCTAGGGGGAACACGTGGGTACCCCGAGGGGAGTAGCTGGCTGGAGGCCAGAGTGCAGGGAGGGAATGACTCCATCCCATCTCCCCCCACAGCTGCAGGGCCAGGTGGGCCGTCCACAGGCCACTAAGGCCCAGGGTGGCACCATCACACCTTGGGGAGTGGCCCTGGGTGGGGACCGAGAAGCCCAAGTGCCGAGGTGACAGGGTGACCCCTACTCTGCCGCCACAAGCCTGCCCCCGCGTCTGCCCTTGTCTACCGACCTCCGGGCTCACTCAGTCCGATAACAGGTTAGATGGAATCGTGGTAGCAACAGGGGCTGGGGGCTGGGGAGGAGGCCGTCGAAGCCCACACAGGGTGGGAGCCAAGGCCTGGGGGCCGCACGGGGGCTGGAGGTGGGGGCGGGCAGGGCAGCCGTGGGAAACACGTGGTGGTGCCAGGACCCAGTCCGTCTGCCCCGAGTCCTCCTTCCAGAAAGGACCGGACTTGCTGGCTCTCGGGACCCCCCACCACCATCAGAGCATATCTGGGTGGGGTGAGAAGCCTCCCGGTGGCTCCCCAGGCAGGCACGTGTCCCTGCGATTGCTGTGCCTCCTCCCTCCCCCTCAACCGCCGCTTCCCCCATGAGGCCAGACACTCAGCAGTGGCTCCTGACGTAGGCCAAGTCAGCAGGTTTTCTGGAAGCTTCCAAAGTGCTGCAATGCTCAGGGATGGCAGGGGCATGCTGACACAGCTCCTGGGTTGGGGCAGGCCCCACTTTCGGCCTCTTCCCGCCTTCCTGGGGGCCTGTGTCCCCGAAGGNN
benign
170,663
Evaluate the clinical significance of the mutation at chromosome 11, position 2572858 in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
pathogenic; ['Atrial_fibrillation,_familial,_3', 'Beckwith-Wiedemann_syndrome', 'Cardiovascular_phenotype', 'Jervell_and_Lange-Nielsen_syndrome_1', 'Long_QT_syndrome', 'Long_QT_syndrome_1', 'Short_QT_syndrome_type_2']
CCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAGGGCTGCTTCTAGGGGGAACACGTGGGTACCCCGAGGGGAGTAGCTGGCTGGAGGCCAGAGTGCAGGGAGGGAATGACTCCATCCCATCTCCCCCCACAGCTGCAGGGCCAGGTGGGCCGTCCACAGGCCACTAAGGCCCAGGGTGGCACCATCACACCTTGGGGAGTGGCCCTGGGTGGGGACCGAGAAGCCCAAGTGCCGAGGTGACAGGGTGACCCCTACTCTGCCGCCACAAGCCTGCCCCCGCGTCTGCCCTTGTCTACCGACCTCCGGGCTCACTCAGTCCGATAACAGGTTAGATGGAATCGTGGTAGCAACAGGGGCTGGGGGCTGGGGAGGAGGCCGTCGAAGCCCACACAGGGTGGGAGCCAAGGCCTGGGGGCCGCACGGGGGCTGGAGGTGGGGGCGGGCAGGGCAGCCGTGGGAAACACGTGGTGGTGCCAGGACCCAGTCCGTCTGCCCCGAGTCCTCCTTCCAGAAAGGACCGGACTTGCTGGCTCTCGGGACCCCCCACCACCATCAGAGCATATCTGGGTGGGGTGAGAAGCCTCCCGGTGGCTCCCCAGGCAGGCACGTGTCCCTGCGATTGCTGTGCCTCCTCCCTCCCCCTCAACCGCCGCTTCCCCCATGAGGCCAGACACTCAGCAGTGGCTCCTGACGTAGGCCAAGTCAGCAGGTTTTCTGGAAGCTTCCAAAGTGCTGCAATGCTCAGGGATGGCAGGGGCATGCTGACACAGCTCCTGGGTTGGGGCAGGCCCCACTTTCGGCCTCTTCCCGCCTTCCTGGGGGCCTGTGTCCCCGAAGGCCCCAGTGTGGCAGGCCTGAGCAGGTTTGGGC
CCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAGGGCTGCTTCTAGGGGGAACACGTGGGTACCCCGAGGGGAGTAGCTGGCTGGAGGCCAGAGTGCAGGGAGGGAATGACTCCATCCCATCTCCCCCCACAGCTGCAGGGCCAGGTGGGCCGTCCACAGGCCACTAAGGCCCAGGGTGGCACCATCACACCTTGGGGAGTGGCCCTGGGTGGGGACCGAGAAGCCCAAGTGCCGAGGTGACAGGGTGACCCCTACTCTGCCGCCACAAGCCTGCCCCCGCGTCTGCCCTTGTCTACCGACCTCCGGGCTCACTCAGTCCGATAACAGGTTAGATGGAATCGTGGTAGCAACAGGGGCTGGGGGCTGGGGAGGAGGCCGTCGAAGCCCACACAGGGTGGGAGCCAAGGCCTGGGGGCCGCACGGGGGCTGGAGGTGGGGGCGGGCAGGGCAGCCGTGGGAAACACGTGGTGGTGCCAGGACCCAGTCCGTCTGCCCCGAGTCCTCCTTCCAGAAAGGACCGGACTTGCTGGCTCTCGGGACCCCCCACCACCATCAGAGCATATCTGGGTGGGGTGAGAAGCCTCCCGGTGGCTCCCCAGGCAGGCACGTGTCCCTGCGATTGCTGTGCCTCCTCCCTCCCCCTCAACCGCCGCTTCCCCCATGAGGCCAGACACTCAGCAGTGGCTCCTGACGTAGGCCAAGTCAGCAGGTTTTCTGGAAGCTTCCAAAGTGCTGCAATGCTCAGGGATGGCAGGGGCATGCTGACACAGCTCCTGGGTTGGGGCAGGCCCCACTTTCGGCCTCTTCCCGCCTTCCTGGGGGCCTGTGTCCCCGAAGGCCCCAGTGTGGCAGGCCTGAGCAGGTTTGGGCN
pathogenic
170,667
Regarding the variant at chromosome 11 and position 2572885, affecting gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Long_QT_syndrome', 'Long_QT_syndrome_1']
AGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAGGGCTGCTTCTAGGGGGAACACGTGGGTACCCCGAGGGGAGTAGCTGGCTGGAGGCCAGAGTGCAGGGAGGGAATGACTCCATCCCATCTCCCCCCACAGCTGCAGGGCCAGGTGGGCCGTCCACAGGCCACTAAGGCCCAGGGTGGCACCATCACACCTTGGGGAGTGGCCCTGGGTGGGGACCGAGAAGCCCAAGTGCCGAGGTGACAGGGTGACCCCTACTCTGCCGCCACAAGCCTGCCCCCGCGTCTGCCCTTGTCTACCGACCTCCGGGCTCACTCAGTCCGATAACAGGTTAGATGGAATCGTGGTAGCAACAGGGGCTGGGGGCTGGGGAGGAGGCCGTCGAAGCCCACACAGGGTGGGAGCCAAGGCCTGGGGGCCGCACGGGGGCTGGAGGTGGGGGCGGGCAGGGCAGCCGTGGGAAACACGTGGTGGTGCCAGGACCCAGTCCGTCTGCCCCGAGTCCTCCTTCCAGAAAGGACCGGACTTGCTGGCTCTCGGGACCCCCCACCACCATCAGAGCATATCTGGGTGGGGTGAGAAGCCTCCCGGTGGCTCCCCAGGCAGGCACGTGTCCCTGCGATTGCTGTGCCTCCTCCCTCCCCCTCAACCGCCGCTTCCCCCATGAGGCCAGACACTCAGCAGTGGCTCCTGACGTAGGCCAAGTCAGCAGGTTTTCTGGAAGCTTCCAAAGTGCTGCAATGCTCAGGGATGGCAGGGGCATGCTGACACAGCTCCTGGGTTGGGGCAGGCCCCACTTTCGGCCTCTTCCCGCCTTCCTGGGGGCCTGTGTCCCCGAAGGCCCCAGTGTGGCAGGCCTGAGCAGGTTTGGGCAGCAGGGCCCAGCCCCCCTGCGGGAGC
AGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAGGGCTGCTTCTAGGGGGAACACGTGGGTACCCCGAGGGGAGTAGCTGGCTGGAGGCCAGAGTGCAGGGAGGGAATGACTCCATCCCATCTCCCCCCACAGCTGCAGGGCCAGGTGGGCCGTCCACAGGCCACTAAGGCCCAGGGTGGCACCATCACACCTTGGGGAGTGGCCCTGGGTGGGGACCGAGAAGCCCAAGTGCCGAGGTGACAGGGTGACCCCTACTCTGCCGCCACAAGCCTGCCCCCGCGTCTGCCCTTGTCTACCGACCTCCGGGCTCACTCAGTCCGATAACAGGTTAGATGGAATCGTGGTAGCAACAGGGGCTGGGGGCTGGGGAGGAGGCCGTCGAAGCCCACACAGGGTGGGAGCCAAGGCCTGGGGGCCGCACGGGGGCTGGAGGTGGGGGCGGGCAGGGCAGCCGTGGGAAACACGTGGTGGTGCCAGGACCCAGTCCGTCTGCCCCGAGTCCTCCTTCCAGAAAGGACCGGACTTGCTGGCTCTCGGGACCCCCCACCACCATCAGAGCATATCTGGGTGGGGTGAGAAGCCTCCCGGTGGCTCCCCAGGCAGGCACGTGTCCCTGCGATTGCTGTGCCTCCTCCCTCCCCCTCAACCGCCGCTTCCCCCATGAGGCCAGACACTCAGCAGTGGCTCCTGACGTAGGCCAAGTCAGCAGGTTTTCTGGAAGCTTCCAAAGTGCTGCAATGCTCAGGGATGGCAGGGGCATGCTGACACAGCTCCTGGGTTGGGGCAGGCCCCACTTTCGGCCTCTTCCCGCCTTCCTGGGGGCCTGTGTCCCCGAAGGCCCCAGTGTGGCAGGCCTGAGCAGGTTTGGGCAGCAGGGCCCAGCCCCCCTGCGGGAGCNNN
pathogenic
170,675
Evaluate if the mutation on chromosome 11 at position 2572889 in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['Long_QT_syndrome', 'Long_QT_syndrome_1', 'likely other unspecified diseases']
CCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAGGGCTGCTTCTAGGGGGAACACGTGGGTACCCCGAGGGGAGTAGCTGGCTGGAGGCCAGAGTGCAGGGAGGGAATGACTCCATCCCATCTCCCCCCACAGCTGCAGGGCCAGGTGGGCCGTCCACAGGCCACTAAGGCCCAGGGTGGCACCATCACACCTTGGGGAGTGGCCCTGGGTGGGGACCGAGAAGCCCAAGTGCCGAGGTGACAGGGTGACCCCTACTCTGCCGCCACAAGCCTGCCCCCGCGTCTGCCCTTGTCTACCGACCTCCGGGCTCACTCAGTCCGATAACAGGTTAGATGGAATCGTGGTAGCAACAGGGGCTGGGGGCTGGGGAGGAGGCCGTCGAAGCCCACACAGGGTGGGAGCCAAGGCCTGGGGGCCGCACGGGGGCTGGAGGTGGGGGCGGGCAGGGCAGCCGTGGGAAACACGTGGTGGTGCCAGGACCCAGTCCGTCTGCCCCGAGTCCTCCTTCCAGAAAGGACCGGACTTGCTGGCTCTCGGGACCCCCCACCACCATCAGAGCATATCTGGGTGGGGTGAGAAGCCTCCCGGTGGCTCCCCAGGCAGGCACGTGTCCCTGCGATTGCTGTGCCTCCTCCCTCCCCCTCAACCGCCGCTTCCCCCATGAGGCCAGACACTCAGCAGTGGCTCCTGACGTAGGCCAAGTCAGCAGGTTTTCTGGAAGCTTCCAAAGTGCTGCAATGCTCAGGGATGGCAGGGGCATGCTGACACAGCTCCTGGGTTGGGGCAGGCCCCACTTTCGGCCTCTTCCCGCCTTCCTGGGGGCCTGTGTCCCCGAAGGCCCCAGTGTGGCAGGCCTGAGCAGGTTTGGGCAGCAGGGCCCAGCCCCCCTGCGGGAGCCTGC
CCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAGGGCTGCTTCTAGGGGGAACACGTGGGTACCCCGAGGGGAGTAGCTGGCTGGAGGCCAGAGTGCAGGGAGGGAATGACTCCATCCCATCTCCCCCCACAGCTGCAGGGCCAGGTGGGCCGTCCACAGGCCACTAAGGCCCAGGGTGGCACCATCACACCTTGGGGAGTGGCCCTGGGTGGGGACCGAGAAGCCCAAGTGCCGAGGTGACAGGGTGACCCCTACTCTGCCGCCACAAGCCTGCCCCCGCGTCTGCCCTTGTCTACCGACCTCCGGGCTCACTCAGTCCGATAACAGGTTAGATGGAATCGTGGTAGCAACAGGGGCTGGGGGCTGGGGAGGAGGCCGTCGAAGCCCACACAGGGTGGGAGCCAAGGCCTGGGGGCCGCACGGGGGCTGGAGGTGGGGGCGGGCAGGGCAGCCGTGGGAAACACGTGGTGGTGCCAGGACCCAGTCCGTCTGCCCCGAGTCCTCCTTCCAGAAAGGACCGGACTTGCTGGCTCTCGGGACCCCCCACCACCATCAGAGCATATCTGGGTGGGGTGAGAAGCCTCCCGGTGGCTCCCCAGGCAGGCACGTGTCCCTGCGATTGCTGTGCCTCCTCCCTCCCCCTCAACCGCCGCTTCCCCCATGAGGCCAGACACTCAGCAGTGGCTCCTGACGTAGGCCAAGTCAGCAGGTTTTCTGGAAGCTTCCAAAGTGCTGCAATGCTCAGGGATGGCAGGGGCATGCTGACACAGCTCCTGGGTTGGGGCAGGCCCCACTTTCGGCCTCTTCCCGCCTTCCTGGGGGCCTGTGTCCCCGAAGGCCCCAGTGTGGCAGGCCTGAGCAGGTTTGGGCAGCAGGGCCCAGCCCCCCTGCGGGAGCCTGCNNN
pathogenic
170,676
Is the genetic change at chromosome 11, position 2572922, within gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Long_QT_syndrome']
GGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAGGGCTGCTTCTAGGGGGAACACGTGGGTACCCCGAGGGGAGTAGCTGGCTGGAGGCCAGAGTGCAGGGAGGGAATGACTCCATCCCATCTCCCCCCACAGCTGCAGGGCCAGGTGGGCCGTCCACAGGCCACTAAGGCCCAGGGTGGCACCATCACACCTTGGGGAGTGGCCCTGGGTGGGGACCGAGAAGCCCAAGTGCCGAGGTGACAGGGTGACCCCTACTCTGCCGCCACAAGCCTGCCCCCGCGTCTGCCCTTGTCTACCGACCTCCGGGCTCACTCAGTCCGATAACAGGTTAGATGGAATCGTGGTAGCAACAGGGGCTGGGGGCTGGGGAGGAGGCCGTCGAAGCCCACACAGGGTGGGAGCCAAGGCCTGGGGGCCGCACGGGGGCTGGAGGTGGGGGCGGGCAGGGCAGCCGTGGGAAACACGTGGTGGTGCCAGGACCCAGTCCGTCTGCCCCGAGTCCTCCTTCCAGAAAGGACCGGACTTGCTGGCTCTCGGGACCCCCCACCACCATCAGAGCATATCTGGGTGGGGTGAGAAGCCTCCCGGTGGCTCCCCAGGCAGGCACGTGTCCCTGCGATTGCTGTGCCTCCTCCCTCCCCCTCAACCGCCGCTTCCCCCATGAGGCCAGACACTCAGCAGTGGCTCCTGACGTAGGCCAAGTCAGCAGGTTTTCTGGAAGCTTCCAAAGTGCTGCAATGCTCAGGGATGGCAGGGGCATGCTGACACAGCTCCTGGGTTGGGGCAGGCCCCACTTTCGGCCTCTTCCCGCCTTCCTGGGGGCCTGTGTCCCCGAAGGCCCCAGTGTGGCAGGCCTGAGCAGGTTTGGGCAGCAGGGCCCAGCCCCCCTGCGGGAGCCTGCCTGCAGTGAGTGTGGATGGGTAGGGCGTGCTCG
GGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAGGGCTGCTTCTAGGGGGAACACGTGGGTACCCCGAGGGGAGTAGCTGGCTGGAGGCCAGAGTGCAGGGAGGGAATGACTCCATCCCATCTCCCCCCACAGCTGCAGGGCCAGGTGGGCCGTCCACAGGCCACTAAGGCCCAGGGTGGCACCATCACACCTTGGGGAGTGGCCCTGGGTGGGGACCGAGAAGCCCAAGTGCCGAGGTGACAGGGTGACCCCTACTCTGCCGCCACAAGCCTGCCCCCGCGTCTGCCCTTGTCTACCGACCTCCGGGCTCACTCAGTCCGATAACAGGTTAGATGGAATCGTGGTAGCAACAGGGGCTGGGGGCTGGGGAGGAGGCCGTCGAAGCCCACACAGGGTGGGAGCCAAGGCCTGGGGGCCGCACGGGGGCTGGAGGTGGGGGCGGGCAGGGCAGCCGTGGGAAACACGTGGTGGTGCCAGGACCCAGTCCGTCTGCCCCGAGTCCTCCTTCCAGAAAGGACCGGACTTGCTGGCTCTCGGGACCCCCCACCACCATCAGAGCATATCTGGGTGGGGTGAGAAGCCTCCCGGTGGCTCCCCAGGCAGGCACGTGTCCCTGCGATTGCTGTGCCTCCTCCCTCCCCCTCAACCGCCGCTTCCCCCATGAGGCCAGACACTCAGCAGTGGCTCCTGACGTAGGCCAAGTCAGCAGGTTTTCTGGAAGCTTCCAAAGTGCTGCAATGCTCAGGGATGGCAGGGGCATGCTGACACAGCTCCTGGGTTGGGGCAGGCCCCACTTTCGGCCTCTTCCCGCCTTCCTGGGGGCCTGTGTCCCCGAAGGCCCCAGTGTGGCAGGCCTGAGCAGGTTTGGGCAGCAGGGCCCAGCCCCCCTGCGGGAGCCTGCCTGCAGTGAGTGTGGATGGGTAGGGCGTGCTCGNNNNNNNNNNNNNNNNNNN
pathogenic
170,685
Does the chromosome 11 mutation at position 2572975 within gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Long_QT_syndrome']
GCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAGGGCTGCTTCTAGGGGGAACACGTGGGTACCCCGAGGGGAGTAGCTGGCTGGAGGCCAGAGTGCAGGGAGGGAATGACTCCATCCCATCTCCCCCCACAGCTGCAGGGCCAGGTGGGCCGTCCACAGGCCACTAAGGCCCAGGGTGGCACCATCACACCTTGGGGAGTGGCCCTGGGTGGGGACCGAGAAGCCCAAGTGCCGAGGTGACAGGGTGACCCCTACTCTGCCGCCACAAGCCTGCCCCCGCGTCTGCCCTTGTCTACCGACCTCCGGGCTCACTCAGTCCGATAACAGGTTAGATGGAATCGTGGTAGCAACAGGGGCTGGGGGCTGGGGAGGAGGCCGTCGAAGCCCACACAGGGTGGGAGCCAAGGCCTGGGGGCCGCACGGGGGCTGGAGGTGGGGGCGGGCAGGGCAGCCGTGGGAAACACGTGGTGGTGCCAGGACCCAGTCCGTCTGCCCCGAGTCCTCCTTCCAGAAAGGACCGGACTTGCTGGCTCTCGGGACCCCCCACCACCATCAGAGCATATCTGGGTGGGGTGAGAAGCCTCCCGGTGGCTCCCCAGGCAGGCACGTGTCCCTGCGATTGCTGTGCCTCCTCCCTCCCCCTCAACCGCCGCTTCCCCCATGAGGCCAGACACTCAGCAGTGGCTCCTGACGTAGGCCAAGTCAGCAGGTTTTCTGGAAGCTTCCAAAGTGCTGCAATGCTCAGGGATGGCAGGGGCATGCTGACACAGCTCCTGGGTTGGGGCAGGCCCCACTTTCGGCCTCTTCCCGCCTTCCTGGGGGCCTGTGTCCCCGAAGGCCCCAGTGTGGCAGGCCTGAGCAGGTTTGGGCAGCAGGGCCCAGCCCCCCTGCGGGAGCCTGCCTGCAGTGAGTGTGGATGGGTAGGGCGTGCTCGGGGGATGGACGGCCCAGAGCCAGGAGAGTTCCCGGGAGGCTGGTGGCAAGGTG
GCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAGGGCTGCTTCTAGGGGGAACACGTGGGTACCCCGAGGGGAGTAGCTGGCTGGAGGCCAGAGTGCAGGGAGGGAATGACTCCATCCCATCTCCCCCCACAGCTGCAGGGCCAGGTGGGCCGTCCACAGGCCACTAAGGCCCAGGGTGGCACCATCACACCTTGGGGAGTGGCCCTGGGTGGGGACCGAGAAGCCCAAGTGCCGAGGTGACAGGGTGACCCCTACTCTGCCGCCACAAGCCTGCCCCCGCGTCTGCCCTTGTCTACCGACCTCCGGGCTCACTCAGTCCGATAACAGGTTAGATGGAATCGTGGTAGCAACAGGGGCTGGGGGCTGGGGAGGAGGCCGTCGAAGCCCACACAGGGTGGGAGCCAAGGCCTGGGGGCCGCACGGGGGCTGGAGGTGGGGGCGGGCAGGGCAGCCGTGGGAAACACGTGGTGGTGCCAGGACCCAGTCCGTCTGCCCCGAGTCCTCCTTCCAGAAAGGACCGGACTTGCTGGCTCTCGGGACCCCCCACCACCATCAGAGCATATCTGGGTGGGGTGAGAAGCCTCCCGGTGGCTCCCCAGGCAGGCACGTGTCCCTGCGATTGCTGTGCCTCCTCCCTCCCCCTCAACCGCCGCTTCCCCCATGAGGCCAGACACTCAGCAGTGGCTCCTGACGTAGGCCAAGTCAGCAGGTTTTCTGGAAGCTTCCAAAGTGCTGCAATGCTCAGGGATGGCAGGGGCATGCTGACACAGCTCCTGGGTTGGGGCAGGCCCCACTTTCGGCCTCTTCCCGCCTTCCTGGGGGCCTGTGTCCCCGAAGGCCCCAGTGTGGCAGGCCTGAGCAGGTTTGGGCAGCAGGGCCCAGCCCCCCTGCGGGAGCCTGCCTGCAGTGAGTGTGGATGGGTAGGGCGTGCTCGGGGGATGGACGGCCCAGAGCCAGGAGAGTTCCCGGGAGGCTGGTGGCAA
pathogenic
170,701
Is the variant located on chromosome 11 at position 2572978, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), benign or pathogenic? If pathogenic, specify the disease(s) linked.
pathogenic; ['Cardiovascular_phenotype', 'Congenital_long_QT_syndrome', 'Long_QT_syndrome']
CTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAGGGCTGCTTCTAGGGGGAACACGTGGGTACCCCGAGGGGAGTAGCTGGCTGGAGGCCAGAGTGCAGGGAGGGAATGACTCCATCCCATCTCCCCCCACAGCTGCAGGGCCAGGTGGGCCGTCCACAGGCCACTAAGGCCCAGGGTGGCACCATCACACCTTGGGGAGTGGCCCTGGGTGGGGACCGAGAAGCCCAAGTGCCGAGGTGACAGGGTGACCCCTACTCTGCCGCCACAAGCCTGCCCCCGCGTCTGCCCTTGTCTACCGACCTCCGGGCTCACTCAGTCCGATAACAGGTTAGATGGAATCGTGGTAGCAACAGGGGCTGGGGGCTGGGGAGGAGGCCGTCGAAGCCCACACAGGGTGGGAGCCAAGGCCTGGGGGCCGCACGGGGGCTGGAGGTGGGGGCGGGCAGGGCAGCCGTGGGAAACACGTGGTGGTGCCAGGACCCAGTCCGTCTGCCCCGAGTCCTCCTTCCAGAAAGGACCGGACTTGCTGGCTCTCGGGACCCCCCACCACCATCAGAGCATATCTGGGTGGGGTGAGAAGCCTCCCGGTGGCTCCCCAGGCAGGCACGTGTCCCTGCGATTGCTGTGCCTCCTCCCTCCCCCTCAACCGCCGCTTCCCCCATGAGGCCAGACACTCAGCAGTGGCTCCTGACGTAGGCCAAGTCAGCAGGTTTTCTGGAAGCTTCCAAAGTGCTGCAATGCTCAGGGATGGCAGGGGCATGCTGACACAGCTCCTGGGTTGGGGCAGGCCCCACTTTCGGCCTCTTCCCGCCTTCCTGGGGGCCTGTGTCCCCGAAGGCCCCAGTGTGGCAGGCCTGAGCAGGTTTGGGCAGCAGGGCCCAGCCCCCCTGCGGGAGCCTGCCTGCAGTGAGTGTGGATGGGTAGGGCGTGCTCGGGGGATGGACGGCCCAGAGCCAGGAGAGTTCCCGGGAGGCTGGTGGCAAGGTGGGC
CTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAGGGCTGCTTCTAGGGGGAACACGTGGGTACCCCGAGGGGAGTAGCTGGCTGGAGGCCAGAGTGCAGGGAGGGAATGACTCCATCCCATCTCCCCCCACAGCTGCAGGGCCAGGTGGGCCGTCCACAGGCCACTAAGGCCCAGGGTGGCACCATCACACCTTGGGGAGTGGCCCTGGGTGGGGACCGAGAAGCCCAAGTGCCGAGGTGACAGGGTGACCCCTACTCTGCCGCCACAAGCCTGCCCCCGCGTCTGCCCTTGTCTACCGACCTCCGGGCTCACTCAGTCCGATAACAGGTTAGATGGAATCGTGGTAGCAACAGGGGCTGGGGGCTGGGGAGGAGGCCGTCGAAGCCCACACAGGGTGGGAGCCAAGGCCTGGGGGCCGCACGGGGGCTGGAGGTGGGGGCGGGCAGGGCAGCCGTGGGAAACACGTGGTGGTGCCAGGACCCAGTCCGTCTGCCCCGAGTCCTCCTTCCAGAAAGGACCGGACTTGCTGGCTCTCGGGACCCCCCACCACCATCAGAGCATATCTGGGTGGGGTGAGAAGCCTCCCGGTGGCTCCCCAGGCAGGCACGTGTCCCTGCGATTGCTGTGCCTCCTCCCTCCCCCTCAACCGCCGCTTCCCCCATGAGGCCAGACACTCAGCAGTGGCTCCTGACGTAGGCCAAGTCAGCAGGTTTTCTGGAAGCTTCCAAAGTGCTGCAATGCTCAGGGATGGCAGGGGCATGCTGACACAGCTCCTGGGTTGGGGCAGGCCCCACTTTCGGCCTCTTCCCGCCTTCCTGGGGGCCTGTGTCCCCGAAGGCCCCAGTGTGGCAGGCCTGAGCAGGTTTGGGCAGCAGGGCCCAGCCCCCCTGCGGGAGCCTGCCTGCAGTGAGTGTGGATGGGTAGGGCGTGCTCGGGGGATGGACGGCCCAGAGCCAGGAGAGTTCCCGGGAGGCTGGTGGCAAGGTGGGCN
pathogenic
170,702
Gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) variant at chromosome position 2572981 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic
AGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAGGGCTGCTTCTAGGGGGAACACGTGGGTACCCCGAGGGGAGTAGCTGGCTGGAGGCCAGAGTGCAGGGAGGGAATGACTCCATCCCATCTCCCCCCACAGCTGCAGGGCCAGGTGGGCCGTCCACAGGCCACTAAGGCCCAGGGTGGCACCATCACACCTTGGGGAGTGGCCCTGGGTGGGGACCGAGAAGCCCAAGTGCCGAGGTGACAGGGTGACCCCTACTCTGCCGCCACAAGCCTGCCCCCGCGTCTGCCCTTGTCTACCGACCTCCGGGCTCACTCAGTCCGATAACAGGTTAGATGGAATCGTGGTAGCAACAGGGGCTGGGGGCTGGGGAGGAGGCCGTCGAAGCCCACACAGGGTGGGAGCCAAGGCCTGGGGGCCGCACGGGGGCTGGAGGTGGGGGCGGGCAGGGCAGCCGTGGGAAACACGTGGTGGTGCCAGGACCCAGTCCGTCTGCCCCGAGTCCTCCTTCCAGAAAGGACCGGACTTGCTGGCTCTCGGGACCCCCCACCACCATCAGAGCATATCTGGGTGGGGTGAGAAGCCTCCCGGTGGCTCCCCAGGCAGGCACGTGTCCCTGCGATTGCTGTGCCTCCTCCCTCCCCCTCAACCGCCGCTTCCCCCATGAGGCCAGACACTCAGCAGTGGCTCCTGACGTAGGCCAAGTCAGCAGGTTTTCTGGAAGCTTCCAAAGTGCTGCAATGCTCAGGGATGGCAGGGGCATGCTGACACAGCTCCTGGGTTGGGGCAGGCCCCACTTTCGGCCTCTTCCCGCCTTCCTGGGGGCCTGTGTCCCCGAAGGCCCCAGTGTGGCAGGCCTGAGCAGGTTTGGGCAGCAGGGCCCAGCCCCCCTGCGGGAGCCTGCCTGCAGTGAGTGTGGATGGGTAGGGCGTGCTCGGGGGATGGACGGCCCAGAGCCAGGAGAGTTCCCGGGAGGCTGGTGGCAAGGTGGGCAGT
AGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAGGGCTGCTTCTAGGGGGAACACGTGGGTACCCCGAGGGGAGTAGCTGGCTGGAGGCCAGAGTGCAGGGAGGGAATGACTCCATCCCATCTCCCCCCACAGCTGCAGGGCCAGGTGGGCCGTCCACAGGCCACTAAGGCCCAGGGTGGCACCATCACACCTTGGGGAGTGGCCCTGGGTGGGGACCGAGAAGCCCAAGTGCCGAGGTGACAGGGTGACCCCTACTCTGCCGCCACAAGCCTGCCCCCGCGTCTGCCCTTGTCTACCGACCTCCGGGCTCACTCAGTCCGATAACAGGTTAGATGGAATCGTGGTAGCAACAGGGGCTGGGGGCTGGGGAGGAGGCCGTCGAAGCCCACACAGGGTGGGAGCCAAGGCCTGGGGGCCGCACGGGGGCTGGAGGTGGGGGCGGGCAGGGCAGCCGTGGGAAACACGTGGTGGTGCCAGGACCCAGTCCGTCTGCCCCGAGTCCTCCTTCCAGAAAGGACCGGACTTGCTGGCTCTCGGGACCCCCCACCACCATCAGAGCATATCTGGGTGGGGTGAGAAGCCTCCCGGTGGCTCCCCAGGCAGGCACGTGTCCCTGCGATTGCTGTGCCTCCTCCCTCCCCCTCAACCGCCGCTTCCCCCATGAGGCCAGACACTCAGCAGTGGCTCCTGACGTAGGCCAAGTCAGCAGGTTTTCTGGAAGCTTCCAAAGTGCTGCAATGCTCAGGGATGGCAGGGGCATGCTGACACAGCTCCTGGGTTGGGGCAGGCCCCACTTTCGGCCTCTTCCCGCCTTCCTGGGGGCCTGTGTCCCCGAAGGCCCCAGTGTGGCAGGCCTGAGCAGGTTTGGGCAGCAGGGCCCAGCCCCCCTGCGGGAGCCTGCCTGCAGTGAGTGTGGATGGGTAGGGCGTGCTCGGGGGATGGACGGCCCAGAGCCAGGAGAGTTCCCGGGAGGCTGGTGGCAAGGTGGGCAGTNNNNNNNNNNNN
pathogenic
170,708
Gene mutation in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) at chromosome 11, position 2583507—is it benign or pathogenic? If pathogenic, specify the disease(s).
pathogenic; ['Atrial_fibrillation,_familial,_3', 'Beckwith-Wiedemann_syndrome', 'Cardiovascular_phenotype', 'Jervell_and_Lange-Nielsen_syndrome_1', 'KCNQ1-related_disorder', 'Long_QT_syndrome', 'Long_QT_syndrome_1', 'Short_QT_syndrome_type_2']
TCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGAGCATCCCATCTCTGCATGGGGCACGCTTGTGAGTGTGCACCCACATACACAGAGCCGGGTGGTCCACTGAAAGGGCCTGGCAGTAAACAGCTTCCTGTGCACATTGTGTGTGTGGCAGGGGCATGGGGGCATGTGTGTGTCTCTTAAGGACAGTGGCGCTGCAGGGAGAGCTCCGTGTGCAGCTGTGGGAGGTAGCCTGCAAGCAGCCTCTGCAGAAGCATCCTGGCCATAAGCGAACGTGCGGTCAGGGCACTAGTGGGGCAGGGGCCTGGGTGGCGGCCAGGGCTCAGCAGAGGCCTGTCCCGCCCTGTGGCCTGGCGGCGGTGGCTGGCGTTCATCACTGTTCGTTAACGTGCTCATCGGTACAGCCTGGTTTCCCGCAATGTGGCCGCTTCTGCTACCTGAGCCTCCGAGCCTCCTGCTGTGGCAGTTCTGGGCAGTCGCGTGAGCCGTGTGCACCTGCCTCTCTGTCCGCGTGTGCGCCTGTGCACCCCTGCCCGGGGGTGGCCATGGGGCTTCTCCCCACCCTCCCTCCTCCTCAGTGGCTGGTGGAAACCACAGGGTGGCCCAGGGACCCTGGTCTCGTGGGGGCTCAGGTGGGCCGGGGTTTGTTCTTGCCTTCCATCAGAGTGTGTTAAACAGGCCTCAGGCCTTCCTGCCATCAGCACTGGGCCCATAGGGCTGGGAATCCAGTGGGGGTCTCCATGTGGTTCCCAGCTGGGGCATTCCTGGGCCTGCAAGCGGTGGCCGTCACTTGACCTTGACCAGAAGCCCCAAGCCGGTAAATGCTGTGCTGTCCTGAGTGTGGTGCCCAGAGCAGGGCTGCAAAGACCTCCCGCAGCCACAGCCATGGTCTGGGCCACCATGCCTGCTGTCCAGATGAGCCCAGGCAGGAGCCTGTGTGTCCACAGGGTGAGCTGTGCCTGAGGGCCACTCTGGGTCTCCTTGTTGGGCTCAGCGCCAGCTCCTGAAGAACCCAGCAGGCAGCCTGCACGGACCAGGCCCAGCCAGGGTAGGCTCCTACGTCCTGCAGAATGACATTTCCAGGCTCAGACTGGAATCCCCAGGAAGCAAACCTCAGATGCCAGCGCGGGGGAAAGGGTGGGGGGAGCCTTCTATTGTCCCACCACACGTCCTGGACGGATGGCTCTCCCACCAAGAAGAAGGCTTGAGCTGCATCTTGTACTCTCAGAAAAGAGGAAAATAAAACATCTGGTGCCCTGGAGTGGCGTCAGGAAGCAGCGCGTCATCCCAGCCCCTGCTCTTTGTTGACGACCAGCCTCAGTGGGAGCTCCCGGTCTCCTGGGGGCCGGCGCACAGCAACGTCGGTGGCCCAGGGGCCCAGCCTCCTGGGGACAGGCAGGCAGATGAGGCAGCCGGTGTGGGGCGAGCTCCCAGGCCCACGTTCCCAGCCAGCAGGCCTGGCCCTTCGTGGGTGCTGGGCTCCTTACATGTGCTGGTGGGACATACCTTGTGTGTGACGCCGAGAGCCTGGGAGACATGTGCCATCCCGCGGCTCTGTTCCTGGTGCTTTCGCCGAGTCACACGGGGTCGTCCTGGTGGTCAGGGTCTCTTGCCGGCCTCTCCGCTCATCAGAGTGGTGGGTTTGGGTTAGGCAGTTGGCCCTCCCGAGGCTCCAGTCCCATCCGTGGCTGACCACTGTCCCTCTCCCTGCAGGTCACAGTCACCACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGGTCGGGAAGACCATCGCCTCCTGCTTCTCTGTCTTTGCCATCTCCTTCTTTGCGCTCCCAGCGGTAGGTGCCCCGTGGGTGCGTTTTCCCTGGCTCCTTGGACAGCTGGGGTCCTGGGGTGGCTGCACGCCCCTCCCTGTGAGCAGACCCACTTACGTTCAGAACCAAGAGGGTGCTTCCCTTCTAGAAGGTGCTATACTCCAGAGCCCCACCTGCCCTCCCTGGGGCCCTGGATGCAGACTTCCCGTTTGCAGTCCCCACTGGGGTCCTTGCAGGCAGTGTGGGAGGCAGCCTGGAGTGGCTGTGCATGGGCGCAGTGTGGGGCAGGCCTGCTCACTCAGCCCTGGGTGGGTGGGCAATGCTGCTACCACGCCCCATGGAGGCAGAATCTTGTGCCTGGAGAGGGCACTTCCACGCTGTGGCTGGGGGGGTTTTGTTCCATGTCCTTTCCAGAAACCACAGATTGTAAGGTGATGTGTCTAGTTCACAATGCCTGTATGTGGGTGTGTGTGTGTGTGTTATGTGCGTATGTGCATAATATGTGTTTGTGTTGTGTGTGTATAATTTTATGTTACCTGTATACTATGGGTATGTGTATATGTATCACATGGGTGTGTATGTACTGTATGTGTGCGTGCATACTGTGTATACATATTGTATGTGCATATGTTGTATTTAGTATGTGTGCTGTGTTGTGTGCACATGTATGCATTATACATGTATATCAGTATGTTTGCATATGTGTATTTATGTATCTGTGTCACAGGTATGTATCCTATACATCTATGTGCGTATATGTGTGTGCACATGACATGTAGACATGTGTTAGTATGTGCTTGTGTTAGTGTTTGTGTGTTAGTGTGGGTTAGTGTATGTTTTAGTGTATGTTAGTGTGTTTGTGTGTTAGTGTGTGGGTTTGTGTTTGTGTTTCTGTGTTAGTGTGTGTGTTAGTGTGCGTTAGTTTGTGTTTGTGTGTGTATGTTAGTGTATGTTAGTGTTAGTGTGTGTTAGTATGTGGGTTAGTGTGTGTGTTTGTGTGTTAGTGTGTGTGTTAGTATGTGTTTGTGTTAGTGTGTATTTGTGTGTGTTAGTGTTTGTGTGTGTTTGTGGGTTAGTGTGTGTTAGTGTGGGTTACTGTGTGTTAGTGTTTGTGTGTTAGTGTGTTTTTGTGTGTGTTAGTGTGTGGGTTAGTGTTTGTGTGTGTGTCAGTGTGTGTGTGTTAGTGTGCATATCTATTGTGTGTGTGTGTGCATCACACATGCACGTGCACCACGTGATCTCCTCTGTAGACACGGAGTTCCCTAGCTTCAGGGTGGGTCCTTTGCATCCCATCAACCGTCCTTGGGCGAGGCAGCAGCAGGGTCCTCCTCAGCTGAGGACTGCCTTCTCACTTGCGACCCCAATCCCAGTGCCCAGTATGACCCCTTCCTGGGCACATACAGATGGACCAGCCCACCTGGCCCCCAGAATGGTCCCTGGGAATGGGTTAGAGCGGCTGCAGCCCTGCCCCATGGGACTGGGCCCCTTGCTGGATAAGACCTGGGGTATAAGTTCTGCCCCCCATGCTGGCCCAGGACAGGCAGGCTGGGCCCGAGGTGGGACTTGGGGGGGCTTCCAGCACTGACCATACCTGGCCTTCCCACAACGGTGACCGGTAACCACGTCCTGAGGCTGCACCCAGCTGGCAGTGGCCTGTGTGGACGGGAGCCTCCTGTCCATTCCTTCCCAGGGGATTCTTGGCTCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAACCGGCAGATCCCGGCGGCAGCCTCACTCATTCAGGTGCGGTGCCTGCAAGGCCCTGGTCACTGTCATTTTGGTCACTGTTATTGTTGCATCCAGCCCTCACGGCCACCTGTCAGAACCATCATTGGCCCCTGCATCAGCTTGGCTGGCCTGTGGGGCATACTCTGCTTGTGGAAGCCTTGGCTGCTGTGGTGATGGGGTGAGCACGGGGCATTGGAGCCTGTCTTCCTCCAAAGCTGCTCCCATCAAGGGCCATGCCCTGTGGGCTGGAGAGGAGGCACGG
TCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGAGCATCCCATCTCTGCATGGGGCACGCTTGTGAGTGTGCACCCACATACACAGAGCCGGGTGGTCCACTGAAAGGGCCTGGCAGTAAACAGCTTCCTGTGCACATTGTGTGTGTGGCAGGGGCATGGGGGCATGTGTGTGTCTCTTAAGGACAGTGGCGCTGCAGGGAGAGCTCCGTGTGCAGCTGTGGGAGGTAGCCTGCAAGCAGCCTCTGCAGAAGCATCCTGGCCATAAGCGAACGTGCGGTCAGGGCACTAGTGGGGCAGGGGCCTGGGTGGCGGCCAGGGCTCAGCAGAGGCCTGTCCCGCCCTGTGGCCTGGCGGCGGTGGCTGGCGTTCATCACTGTTCGTTAACGTGCTCATCGGTACAGCCTGGTTTCCCGCAATGTGGCCGCTTCTGCTACCTGAGCCTCCGAGCCTCCTGCTGTGGCAGTTCTGGGCAGTCGCGTGAGCCGTGTGCACCTGCCTCTCTGTCCGCGTGTGCGCCTGTGCACCCCTGCCCGGGGGTGGCCATGGGGCTTCTCCCCACCCTCCCTCCTCCTCAGTGGCTGGTGGAAACCACAGGGTGGCCCAGGGACCCTGGTCTCGTGGGGGCTCAGGTGGGCCGGGGTTTGTTCTTGCCTTCCATCAGAGTGTGTTAAACAGGCCTCAGGCCTTCCTGCCATCAGCACTGGGCCCATAGGGCTGGGAATCCAGTGGGGGTCTCCATGTGGTTCCCAGCTGGGGCATTCCTGGGCCTGCAAGCGGTGGCCGTCACTTGACCTTGACCAGAAGCCCCAAGCCGGTAAATGCTGTGCTGTCCTGAGTGTGGTGCCCAGAGCAGGGCTGCAAAGACCTCCCGCAGCCACAGCCATGGTCTGGGCCACCATGCCTGCTGTCCAGATGAGCCCAGGCAGGAGCCTGTGTGTCCACAGGGTGAGCTGTGCCTGAGGGCCACTCTGGGTCTCCTTGTTGGGCTCAGCGCCAGCTCCTGAAGAACCCAGCAGGCAGCCTGCACGGACCAGGCCCAGCCAGGGTAGGCTCCTACGTCCTGCAGAATGACATTTCCAGGCTCAGACTGGAATCCCCAGGAAGCAAACCTCAGATGCCAGCGCGGGGGAAAGGGTGGGGGGAGCCTTCTATTGTCCCACCACACGTCCTGGACGGATGGCTCTCCCACCAAGAAGAAGGCTTGAGCTGCATCTTGTACTCTCAGAAAAGAGGAAAATAAAACATCTGGTGCCCTGGAGTGGCGTCAGGAAGCAGCGCGTCATCCCAGCCCCTGCTCTTTGTTGACGACCAGCCTCAGTGGGAGCTCCCGGTCTCCTGGGGGCCGGCGCACAGCAACGTCGGTGGCCCAGGGGCCCAGCCTCCTGGGGACAGGCAGGCAGATGAGGCAGCCGGTGTGGGGCGAGCTCCCAGGCCCACGTTCCCAGCCAGCAGGCCTGGCCCTTCGTGGGTGCTGGGCTCCTTACATGTGCTGGTGGGACATACCTTGTGTGTGACGCCGAGAGCCTGGGAGACATGTGCCATCCCGCGGCTCTGTTCCTGGTGCTTTCGCCGAGTCACACGGGGTCGTCCTGGTGGTCAGGGTCTCTTGCCGGCCTCTCCGCTCATCAGAGTGGTGGGTTTGGGTTAGGCAGTTGGCCCTCCCGAGGCTCCAGTCCCATCCGTGGCTGACCACTGTCCCTCTCCCTGCAGGTCACAGTCACCACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGGTCGGGAAGACCATCGCCTCCTGCTTCTGTCTTTGCCATCTCCTTCTTTGCGCTCCCAGCGGTAGGTGCCCCGTGGGTGCGTTTTCCCTGGCTCCTTGGACAGCTGGGGTCCTGGGGTGGCTGCACGCCCCTCCCTGTGAGCAGACCCACTTACGTTCAGAACCAAGAGGGTGCTTCCCTTCTAGAAGGTGCTATACTCCAGAGCCCCACCTGCCCTCCCTGGGGCCCTGGATGCAGACTTCCCGTTTGCAGTCCCCACTGGGGTCCTTGCAGGCAGTGTGGGAGGCAGCCTGGAGTGGCTGTGCATGGGCGCAGTGTGGGGCAGGCCTGCTCACTCAGCCCTGGGTGGGTGGGCAATGCTGCTACCACGCCCCATGGAGGCAGAATCTTGTGCCTGGAGAGGGCACTTCCACGCTGTGGCTGGGGGGGTTTTGTTCCATGTCCTTTCCAGAAACCACAGATTGTAAGGTGATGTGTCTAGTTCACAATGCCTGTATGTGGGTGTGTGTGTGTGTGTTATGTGCGTATGTGCATAATATGTGTTTGTGTTGTGTGTGTATAATTTTATGTTACCTGTATACTATGGGTATGTGTATATGTATCACATGGGTGTGTATGTACTGTATGTGTGCGTGCATACTGTGTATACATATTGTATGTGCATATGTTGTATTTAGTATGTGTGCTGTGTTGTGTGCACATGTATGCATTATACATGTATATCAGTATGTTTGCATATGTGTATTTATGTATCTGTGTCACAGGTATGTATCCTATACATCTATGTGCGTATATGTGTGTGCACATGACATGTAGACATGTGTTAGTATGTGCTTGTGTTAGTGTTTGTGTGTTAGTGTGGGTTAGTGTATGTTTTAGTGTATGTTAGTGTGTTTGTGTGTTAGTGTGTGGGTTTGTGTTTGTGTTTCTGTGTTAGTGTGTGTGTTAGTGTGCGTTAGTTTGTGTTTGTGTGTGTATGTTAGTGTATGTTAGTGTTAGTGTGTGTTAGTATGTGGGTTAGTGTGTGTGTTTGTGTGTTAGTGTGTGTGTTAGTATGTGTTTGTGTTAGTGTGTATTTGTGTGTGTTAGTGTTTGTGTGTGTTTGTGGGTTAGTGTGTGTTAGTGTGGGTTACTGTGTGTTAGTGTTTGTGTGTTAGTGTGTTTTTGTGTGTGTTAGTGTGTGGGTTAGTGTTTGTGTGTGTGTCAGTGTGTGTGTGTTAGTGTGCATATCTATTGTGTGTGTGTGTGCATCACACATGCACGTGCACCACGTGATCTCCTCTGTAGACACGGAGTTCCCTAGCTTCAGGGTGGGTCCTTTGCATCCCATCAACCGTCCTTGGGCGAGGCAGCAGCAGGGTCCTCCTCAGCTGAGGACTGCCTTCTCACTTGCGACCCCAATCCCAGTGCCCAGTATGACCCCTTCCTGGGCACATACAGATGGACCAGCCCACCTGGCCCCCAGAATGGTCCCTGGGAATGGGTTAGAGCGGCTGCAGCCCTGCCCCATGGGACTGGGCCCCTTGCTGGATAAGACCTGGGGTATAAGTTCTGCCCCCCATGCTGGCCCAGGACAGGCAGGCTGGGCCCGAGGTGGGACTTGGGGGGGCTTCCAGCACTGACCATACCTGGCCTTCCCACAACGGTGACCGGTAACCACGTCCTGAGGCTGCACCCAGCTGGCAGTGGCCTGTGTGGACGGGAGCCTCCTGTCCATTCCTTCCCAGGGGATTCTTGGCTCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAACCGGCAGATCCCGGCGGCAGCCTCACTCATTCAGGTGCGGTGCCTGCAAGGCCCTGGTCACTGTCATTTTGGTCACTGTTATTGTTGCATCCAGCCCTCACGGCCACCTGTCAGAACCATCATTGGCCCCTGCATCAGCTTGGCTGGCCTGTGGGGCATACTCTGCTTGTGGAAGCCTTGGCTGCTGTGGTGATGGGGTGAGCACGGGGCATTGGAGCCTGTCTTCCTCCAAAGCTGCTCCCATCAAGGGCCATGCCCTGTGGGCTGGAGAGGAGGCACGGNN
pathogenic
170,746
Is the genetic variant on chromosome 11, position 2583526, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Atrial_fibrillation,_familial,_3', 'Beckwith-Wiedemann_syndrome', 'Cardiovascular_phenotype', 'Jervell_and_Lange-Nielsen_syndrome_1', 'Long_QT_syndrome', 'Long_QT_syndrome_1', 'Short_QT_syndrome_type_2']
AGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGAGCATCCCATCTCTGCATGGGGCACGCTTGTGAGTGTGCACCCACATACACAGAGCCGGGTGGTCCACTGAAAGGGCCTGGCAGTAAACAGCTTCCTGTGCACATTGTGTGTGTGGCAGGGGCATGGGGGCATGTGTGTGTCTCTTAAGGACAGTGGCGCTGCAGGGAGAGCTCCGTGTGCAGCTGTGGGAGGTAGCCTGCAAGCAGCCTCTGCAGAAGCATCCTGGCCATAAGCGAACGTGCGGTCAGGGCACTAGTGGGGCAGGGGCCTGGGTGGCGGCCAGGGCTCAGCAGAGGCCTGTCCCGCCCTGTGGCCTGGCGGCGGTGGCTGGCGTTCATCACTGTTCGTTAACGTGCTCATCGGTACAGCCTGGTTTCCCGCAATGTGGCCGCTTCTGCTACCTGAGCCTCCGAGCCTCCTGCTGTGGCAGTTCTGGGCAGTCGCGTGAGCCGTGTGCACCTGCCTCTCTGTCCGCGTGTGCGCCTGTGCACCCCTGCCCGGGGGTGGCCATGGGGCTTCTCCCCACCCTCCCTCCTCCTCAGTGGCTGGTGGAAACCACAGGGTGGCCCAGGGACCCTGGTCTCGTGGGGGCTCAGGTGGGCCGGGGTTTGTTCTTGCCTTCCATCAGAGTGTGTTAAACAGGCCTCAGGCCTTCCTGCCATCAGCACTGGGCCCATAGGGCTGGGAATCCAGTGGGGGTCTCCATGTGGTTCCCAGCTGGGGCATTCCTGGGCCTGCAAGCGGTGGCCGTCACTTGACCTTGACCAGAAGCCCCAAGCCGGTAAATGCTGTGCTGTCCTGAGTGTGGTGCCCAGAGCAGGGCTGCAAAGACCTCCCGCAGCCACAGCCATGGTCTGGGCCACCATGCCTGCTGTCCAGATGAGCCCAGGCAGGAGCCTGTGTGTCCACAGGGTGAGCTGTGCCTGAGGGCCACTCTGGGTCTCCTTGTTGGGCTCAGCGCCAGCTCCTGAAGAACCCAGCAGGCAGCCTGCACGGACCAGGCCCAGCCAGGGTAGGCTCCTACGTCCTGCAGAATGACATTTCCAGGCTCAGACTGGAATCCCCAGGAAGCAAACCTCAGATGCCAGCGCGGGGGAAAGGGTGGGGGGAGCCTTCTATTGTCCCACCACACGTCCTGGACGGATGGCTCTCCCACCAAGAAGAAGGCTTGAGCTGCATCTTGTACTCTCAGAAAAGAGGAAAATAAAACATCTGGTGCCCTGGAGTGGCGTCAGGAAGCAGCGCGTCATCCCAGCCCCTGCTCTTTGTTGACGACCAGCCTCAGTGGGAGCTCCCGGTCTCCTGGGGGCCGGCGCACAGCAACGTCGGTGGCCCAGGGGCCCAGCCTCCTGGGGACAGGCAGGCAGATGAGGCAGCCGGTGTGGGGCGAGCTCCCAGGCCCACGTTCCCAGCCAGCAGGCCTGGCCCTTCGTGGGTGCTGGGCTCCTTACATGTGCTGGTGGGACATACCTTGTGTGTGACGCCGAGAGCCTGGGAGACATGTGCCATCCCGCGGCTCTGTTCCTGGTGCTTTCGCCGAGTCACACGGGGTCGTCCTGGTGGTCAGGGTCTCTTGCCGGCCTCTCCGCTCATCAGAGTGGTGGGTTTGGGTTAGGCAGTTGGCCCTCCCGAGGCTCCAGTCCCATCCGTGGCTGACCACTGTCCCTCTCCCTGCAGGTCACAGTCACCACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGGTCGGGAAGACCATCGCCTCCTGCTTCTCTGTCTTTGCCATCTCCTTCTTTGCGCTCCCAGCGGTAGGTGCCCCGTGGGTGCGTTTTCCCTGGCTCCTTGGACAGCTGGGGTCCTGGGGTGGCTGCACGCCCCTCCCTGTGAGCAGACCCACTTACGTTCAGAACCAAGAGGGTGCTTCCCTTCTAGAAGGTGCTATACTCCAGAGCCCCACCTGCCCTCCCTGGGGCCCTGGATGCAGACTTCCCGTTTGCAGTCCCCACTGGGGTCCTTGCAGGCAGTGTGGGAGGCAGCCTGGAGTGGCTGTGCATGGGCGCAGTGTGGGGCAGGCCTGCTCACTCAGCCCTGGGTGGGTGGGCAATGCTGCTACCACGCCCCATGGAGGCAGAATCTTGTGCCTGGAGAGGGCACTTCCACGCTGTGGCTGGGGGGGTTTTGTTCCATGTCCTTTCCAGAAACCACAGATTGTAAGGTGATGTGTCTAGTTCACAATGCCTGTATGTGGGTGTGTGTGTGTGTGTTATGTGCGTATGTGCATAATATGTGTTTGTGTTGTGTGTGTATAATTTTATGTTACCTGTATACTATGGGTATGTGTATATGTATCACATGGGTGTGTATGTACTGTATGTGTGCGTGCATACTGTGTATACATATTGTATGTGCATATGTTGTATTTAGTATGTGTGCTGTGTTGTGTGCACATGTATGCATTATACATGTATATCAGTATGTTTGCATATGTGTATTTATGTATCTGTGTCACAGGTATGTATCCTATACATCTATGTGCGTATATGTGTGTGCACATGACATGTAGACATGTGTTAGTATGTGCTTGTGTTAGTGTTTGTGTGTTAGTGTGGGTTAGTGTATGTTTTAGTGTATGTTAGTGTGTTTGTGTGTTAGTGTGTGGGTTTGTGTTTGTGTTTCTGTGTTAGTGTGTGTGTTAGTGTGCGTTAGTTTGTGTTTGTGTGTGTATGTTAGTGTATGTTAGTGTTAGTGTGTGTTAGTATGTGGGTTAGTGTGTGTGTTTGTGTGTTAGTGTGTGTGTTAGTATGTGTTTGTGTTAGTGTGTATTTGTGTGTGTTAGTGTTTGTGTGTGTTTGTGGGTTAGTGTGTGTTAGTGTGGGTTACTGTGTGTTAGTGTTTGTGTGTTAGTGTGTTTTTGTGTGTGTTAGTGTGTGGGTTAGTGTTTGTGTGTGTGTCAGTGTGTGTGTGTTAGTGTGCATATCTATTGTGTGTGTGTGTGCATCACACATGCACGTGCACCACGTGATCTCCTCTGTAGACACGGAGTTCCCTAGCTTCAGGGTGGGTCCTTTGCATCCCATCAACCGTCCTTGGGCGAGGCAGCAGCAGGGTCCTCCTCAGCTGAGGACTGCCTTCTCACTTGCGACCCCAATCCCAGTGCCCAGTATGACCCCTTCCTGGGCACATACAGATGGACCAGCCCACCTGGCCCCCAGAATGGTCCCTGGGAATGGGTTAGAGCGGCTGCAGCCCTGCCCCATGGGACTGGGCCCCTTGCTGGATAAGACCTGGGGTATAAGTTCTGCCCCCCATGCTGGCCCAGGACAGGCAGGCTGGGCCCGAGGTGGGACTTGGGGGGGCTTCCAGCACTGACCATACCTGGCCTTCCCACAACGGTGACCGGTAACCACGTCCTGAGGCTGCACCCAGCTGGCAGTGGCCTGTGTGGACGGGAGCCTCCTGTCCATTCCTTCCCAGGGGATTCTTGGCTCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAACCGGCAGATCCCGGCGGCAGCCTCACTCATTCAGGTGCGGTGCCTGCAAGGCCCTGGTCACTGTCATTTTGGTCACTGTTATTGTTGCATCCAGCCCTCACGGCCACCTGTCAGAACCATCATTGGCCCCTGCATCAGCTTGGCTGGCCTGTGGGGCATACTCTGCTTGTGGAAGCCTTGGCTGCTGTGGTGATGGGGTGAGCACGGGGCATTGGAGCCTGTCTTCCTCCAAAGCTGCTCCCATCAAGGGCCATGCCCTGTGGGCTGGAGAGGAGGCACGGCCGTGGCCATGCCAGGAGT
AGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGAGCATCCCATCTCTGCATGGGGCACGCTTGTGAGTGTGCACCCACATACACAGAGCCGGGTGGTCCACTGAAAGGGCCTGGCAGTAAACAGCTTCCTGTGCACATTGTGTGTGTGGCAGGGGCATGGGGGCATGTGTGTGTCTCTTAAGGACAGTGGCGCTGCAGGGAGAGCTCCGTGTGCAGCTGTGGGAGGTAGCCTGCAAGCAGCCTCTGCAGAAGCATCCTGGCCATAAGCGAACGTGCGGTCAGGGCACTAGTGGGGCAGGGGCCTGGGTGGCGGCCAGGGCTCAGCAGAGGCCTGTCCCGCCCTGTGGCCTGGCGGCGGTGGCTGGCGTTCATCACTGTTCGTTAACGTGCTCATCGGTACAGCCTGGTTTCCCGCAATGTGGCCGCTTCTGCTACCTGAGCCTCCGAGCCTCCTGCTGTGGCAGTTCTGGGCAGTCGCGTGAGCCGTGTGCACCTGCCTCTCTGTCCGCGTGTGCGCCTGTGCACCCCTGCCCGGGGGTGGCCATGGGGCTTCTCCCCACCCTCCCTCCTCCTCAGTGGCTGGTGGAAACCACAGGGTGGCCCAGGGACCCTGGTCTCGTGGGGGCTCAGGTGGGCCGGGGTTTGTTCTTGCCTTCCATCAGAGTGTGTTAAACAGGCCTCAGGCCTTCCTGCCATCAGCACTGGGCCCATAGGGCTGGGAATCCAGTGGGGGTCTCCATGTGGTTCCCAGCTGGGGCATTCCTGGGCCTGCAAGCGGTGGCCGTCACTTGACCTTGACCAGAAGCCCCAAGCCGGTAAATGCTGTGCTGTCCTGAGTGTGGTGCCCAGAGCAGGGCTGCAAAGACCTCCCGCAGCCACAGCCATGGTCTGGGCCACCATGCCTGCTGTCCAGATGAGCCCAGGCAGGAGCCTGTGTGTCCACAGGGTGAGCTGTGCCTGAGGGCCACTCTGGGTCTCCTTGTTGGGCTCAGCGCCAGCTCCTGAAGAACCCAGCAGGCAGCCTGCACGGACCAGGCCCAGCCAGGGTAGGCTCCTACGTCCTGCAGAATGACATTTCCAGGCTCAGACTGGAATCCCCAGGAAGCAAACCTCAGATGCCAGCGCGGGGGAAAGGGTGGGGGGAGCCTTCTATTGTCCCACCACACGTCCTGGACGGATGGCTCTCCCACCAAGAAGAAGGCTTGAGCTGCATCTTGTACTCTCAGAAAAGAGGAAAATAAAACATCTGGTGCCCTGGAGTGGCGTCAGGAAGCAGCGCGTCATCCCAGCCCCTGCTCTTTGTTGACGACCAGCCTCAGTGGGAGCTCCCGGTCTCCTGGGGGCCGGCGCACAGCAACGTCGGTGGCCCAGGGGCCCAGCCTCCTGGGGACAGGCAGGCAGATGAGGCAGCCGGTGTGGGGCGAGCTCCCAGGCCCACGTTCCCAGCCAGCAGGCCTGGCCCTTCGTGGGTGCTGGGCTCCTTACATGTGCTGGTGGGACATACCTTGTGTGTGACGCCGAGAGCCTGGGAGACATGTGCCATCCCGCGGCTCTGTTCCTGGTGCTTTCGCCGAGTCACACGGGGTCGTCCTGGTGGTCAGGGTCTCTTGCCGGCCTCTCCGCTCATCAGAGTGGTGGGTTTGGGTTAGGCAGTTGGCCCTCCCGAGGCTCCAGTCCCATCCGTGGCTGACCACTGTCCCTCTCCCTGCAGGTCACAGTCACCACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGGTCGGGAAGACCATCGCCTCCTGCTTCTCTGTCTTTGCCATCTCCTTTGCGCTCCCAGCGGTAGGTGCCCCGTGGGTGCGTTTTCCCTGGCTCCTTGGACAGCTGGGGTCCTGGGGTGGCTGCACGCCCCTCCCTGTGAGCAGACCCACTTACGTTCAGAACCAAGAGGGTGCTTCCCTTCTAGAAGGTGCTATACTCCAGAGCCCCACCTGCCCTCCCTGGGGCCCTGGATGCAGACTTCCCGTTTGCAGTCCCCACTGGGGTCCTTGCAGGCAGTGTGGGAGGCAGCCTGGAGTGGCTGTGCATGGGCGCAGTGTGGGGCAGGCCTGCTCACTCAGCCCTGGGTGGGTGGGCAATGCTGCTACCACGCCCCATGGAGGCAGAATCTTGTGCCTGGAGAGGGCACTTCCACGCTGTGGCTGGGGGGGTTTTGTTCCATGTCCTTTCCAGAAACCACAGATTGTAAGGTGATGTGTCTAGTTCACAATGCCTGTATGTGGGTGTGTGTGTGTGTGTTATGTGCGTATGTGCATAATATGTGTTTGTGTTGTGTGTGTATAATTTTATGTTACCTGTATACTATGGGTATGTGTATATGTATCACATGGGTGTGTATGTACTGTATGTGTGCGTGCATACTGTGTATACATATTGTATGTGCATATGTTGTATTTAGTATGTGTGCTGTGTTGTGTGCACATGTATGCATTATACATGTATATCAGTATGTTTGCATATGTGTATTTATGTATCTGTGTCACAGGTATGTATCCTATACATCTATGTGCGTATATGTGTGTGCACATGACATGTAGACATGTGTTAGTATGTGCTTGTGTTAGTGTTTGTGTGTTAGTGTGGGTTAGTGTATGTTTTAGTGTATGTTAGTGTGTTTGTGTGTTAGTGTGTGGGTTTGTGTTTGTGTTTCTGTGTTAGTGTGTGTGTTAGTGTGCGTTAGTTTGTGTTTGTGTGTGTATGTTAGTGTATGTTAGTGTTAGTGTGTGTTAGTATGTGGGTTAGTGTGTGTGTTTGTGTGTTAGTGTGTGTGTTAGTATGTGTTTGTGTTAGTGTGTATTTGTGTGTGTTAGTGTTTGTGTGTGTTTGTGGGTTAGTGTGTGTTAGTGTGGGTTACTGTGTGTTAGTGTTTGTGTGTTAGTGTGTTTTTGTGTGTGTTAGTGTGTGGGTTAGTGTTTGTGTGTGTGTCAGTGTGTGTGTGTTAGTGTGCATATCTATTGTGTGTGTGTGTGCATCACACATGCACGTGCACCACGTGATCTCCTCTGTAGACACGGAGTTCCCTAGCTTCAGGGTGGGTCCTTTGCATCCCATCAACCGTCCTTGGGCGAGGCAGCAGCAGGGTCCTCCTCAGCTGAGGACTGCCTTCTCACTTGCGACCCCAATCCCAGTGCCCAGTATGACCCCTTCCTGGGCACATACAGATGGACCAGCCCACCTGGCCCCCAGAATGGTCCCTGGGAATGGGTTAGAGCGGCTGCAGCCCTGCCCCATGGGACTGGGCCCCTTGCTGGATAAGACCTGGGGTATAAGTTCTGCCCCCCATGCTGGCCCAGGACAGGCAGGCTGGGCCCGAGGTGGGACTTGGGGGGGCTTCCAGCACTGACCATACCTGGCCTTCCCACAACGGTGACCGGTAACCACGTCCTGAGGCTGCACCCAGCTGGCAGTGGCCTGTGTGGACGGGAGCCTCCTGTCCATTCCTTCCCAGGGGATTCTTGGCTCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAACCGGCAGATCCCGGCGGCAGCCTCACTCATTCAGGTGCGGTGCCTGCAAGGCCCTGGTCACTGTCATTTTGGTCACTGTTATTGTTGCATCCAGCCCTCACGGCCACCTGTCAGAACCATCATTGGCCCCTGCATCAGCTTGGCTGGCCTGTGGGGCATACTCTGCTTGTGGAAGCCTTGGCTGCTGTGGTGATGGGGTGAGCACGGGGCATTGGAGCCTGTCTTCCTCCAAAGCTGCTCCCATCAAGGGCCATGCCCTGTGGGCTGGAGAGGAGGCACGGCCGTGGCCATGCCAGGAGTNNN
pathogenic
170,750
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 2585299, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1). What disease(s) is it linked to if pathogenic?
pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_1']
GGGAGACATGTGCCATCCCGCGGCTCTGTTCCTGGTGCTTTCGCCGAGTCACACGGGGTCGTCCTGGTGGTCAGGGTCTCTTGCCGGCCTCTCCGCTCATCAGAGTGGTGGGTTTGGGTTAGGCAGTTGGCCCTCCCGAGGCTCCAGTCCCATCCGTGGCTGACCACTGTCCCTCTCCCTGCAGGTCACAGTCACCACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGGTCGGGAAGACCATCGCCTCCTGCTTCTCTGTCTTTGCCATCTCCTTCTTTGCGCTCCCAGCGGTAGGTGCCCCGTGGGTGCGTTTTCCCTGGCTCCTTGGACAGCTGGGGTCCTGGGGTGGCTGCACGCCCCTCCCTGTGAGCAGACCCACTTACGTTCAGAACCAAGAGGGTGCTTCCCTTCTAGAAGGTGCTATACTCCAGAGCCCCACCTGCCCTCCCTGGGGCCCTGGATGCAGACTTCCCGTTTGCAGTCCCCACTGGGGTCCTTGCAGGCAGTGTGGGAGGCAGCCTGGAGTGGCTGTGCATGGGCGCAGTGTGGGGCAGGCCTGCTCACTCAGCCCTGGGTGGGTGGGCAATGCTGCTACCACGCCCCATGGAGGCAGAATCTTGTGCCTGGAGAGGGCACTTCCACGCTGTGGCTGGGGGGGTTTTGTTCCATGTCCTTTCCAGAAACCACAGATTGTAAGGTGATGTGTCTAGTTCACAATGCCTGTATGTGGGTGTGTGTGTGTGTGTTATGTGCGTATGTGCATAATATGTGTTTGTGTTGTGTGTGTATAATTTTATGTTACCTGTATACTATGGGTATGTGTATATGTATCACATGGGTGTGTATGTACTGTATGTGTGCGTGCATACTGTGTATACATATTGTATGTGCATATGTTGTATTTAGTATGTGTGCTGTGTTGTGTGCACATGTATGCATTATACATGTATATCAGTATGTTTGCATATGTGTATTTATGTATCTGTGTCACAGGTATGTATCCTATACATCTATGTGCGTATATGTGTGTGCACATGACATGTAGACATGTGTTAGTATGTGCTTGTGTTAGTGTTTGTGTGTTAGTGTGGGTTAGTGTATGTTTTAGTGTATGTTAGTGTGTTTGTGTGTTAGTGTGTGGGTTTGTGTTTGTGTTTCTGTGTTAGTGTGTGTGTTAGTGTGCGTTAGTTTGTGTTTGTGTGTGTATGTTAGTGTATGTTAGTGTTAGTGTGTGTTAGTATGTGGGTTAGTGTGTGTGTTTGTGTGTTAGTGTGTGTGTTAGTATGTGTTTGTGTTAGTGTGTATTTGTGTGTGTTAGTGTTTGTGTGTGTTTGTGGGTTAGTGTGTGTTAGTGTGGGTTACTGTGTGTTAGTGTTTGTGTGTTAGTGTGTTTTTGTGTGTGTTAGTGTGTGGGTTAGTGTTTGTGTGTGTGTCAGTGTGTGTGTGTTAGTGTGCATATCTATTGTGTGTGTGTGTGCATCACACATGCACGTGCACCACGTGATCTCCTCTGTAGACACGGAGTTCCCTAGCTTCAGGGTGGGTCCTTTGCATCCCATCAACCGTCCTTGGGCGAGGCAGCAGCAGGGTCCTCCTCAGCTGAGGACTGCCTTCTCACTTGCGACCCCAATCCCAGTGCCCAGTATGACCCCTTCCTGGGCACATACAGATGGACCAGCCCACCTGGCCCCCAGAATGGTCCCTGGGAATGGGTTAGAGCGGCTGCAGCCCTGCCCCATGGGACTGGGCCCCTTGCTGGATAAGACCTGGGGTATAAGTTCTGCCCCCCATGCTGGCCCAGGACAGGCAGGCTGGGCCCGAGGTGGGACTTGGGGGGGCTTCCAGCACTGACCATACCTGGCCTTCCCACAACGGTGACCGGTAACCACGTCCTGAGGCTGCACCCAGCTGGCAGTGGCCTGTGTGGACGGGAGCCTCCTGTCCATTCCTTCCCAGGGGATTCTTGGCTCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAACCGGCAGATCCCGGCGGCAGCCTCACTCATTCAGGTGCGGTGCCTGCAAGGCCCTGGTCACTGTCATTTTGGTCACTGTTATTGTTGCATCCAGCCCTCACGGCCACCTGTCAGAACCATCATTGGCCCCTGCATCAGCTTGGCTGGCCTGTGGGGCATACTCTGCTTGTGGAAGCCTTGGCTGCTGTGGTGATGGGGTGAGCACGGGGCATTGGAGCCTGTCTTCCTCCAAAGCTGCTCCCATCAAGGGCCATGCCCTGTGGGCTGGAGAGGAGGCACGGCCGTGGCCATGCCAGGAGTGGACGTGGTTGGCTCTGAGGCTCCCTTGTGCTCCCATTCTCCCTCCCACTGCACAACAACCTGAGGGCTGAGTCTGGGAGTGGGGTGGCCAGGTGATTGTCCCCAAGGGAGGTAGGACCCAGCTGTGCAGTTGGTGCCTTCTGGAGGGCCTGGCATCCCTCAGGGCTCGGGAGGCCCTGGTGCCTGGAGGTGAGGACTGGCGATGGATGGCATGGGCCTCCCTCTGGGCTCACAAGGCCAGTGGGCTGGGAAAGGCAGAGCCCTGGAGCAACAGGGGCAGGAAGGTTCTGGAGGCAGGTGGGGAGGCAGGCAGTACCAAGCTCTGGGATGCTGGGCTCTGGCTCTGTCACTCCAGGCTCTCCAGGACCCACCAGAGAATGGGACTGCTCTGTTAACGTAAGCAAGGACTTGGCACAGGAGTCACTTGAGAATTGCGTCCCTGTGGGTCTCTCTTGTTGGCCACTGCAGGGCCAGGGCTGCCCTGAGGAACAGCCGCTGAGGTGCCCAGAGGGTGGGCGTTGCCGGGTTGAATGACAAGTGCCCACTGGGGATAGGGCCTCCGCCCAGTGCAGTGGCTGGGAGCACAGTGTCAGTTCCTCTGGGCACACTGGGCCTGATGTCCCCCAGGAAGGCCCAGGACCTGGGCAGCCCCCGCTGGCTGGCGTCCCCCCTGCAGTCCTCGTGAGCTCGCTGCCCCAGGCAAGGCCCAGGCTGTCAGGGGCCAGTCGCAGTCCTCCTGCACTCCTGGCTCAGCCATCGGGGGGGCTGTGTGCTCCCACCCTTAGCCTGGTTTTATGGCTTCACAGTTTCTCCTTCCTGGGAGACCATAAATCAGGCCCGTAAACCCGCCTTGGTCCCAGCATGAGCATGCTGGCCGCCCACGCCTGGCAGGGGACCACATTGGATTCCTGGTCCCACTCCCTGGGAACCACAGGTCCTTTGAAAGGGGTTCCCTCGGAAGCTGCACACACTGTGGGAGGACTGGAGTAGGGGCCCCAGGTGGCAGGTGTGCACAGGAGCAGGGCAGGGGTCATGGGGTTTGCCAGGGTTGGGGGACCACGTGGAGTGCTCAGCCTGTGTGTGTAACACTCGGGCCTTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCAT
GGGAGACATGTGCCATCCCGCGGCTCTGTTCCTGGTGCTTTCGCCGAGTCACACGGGGTCGTCCTGGTGGTCAGGGTCTCTTGCCGGCCTCTCCGCTCATCAGAGTGGTGGGTTTGGGTTAGGCAGTTGGCCCTCCCGAGGCTCCAGTCCCATCCGTGGCTGACCACTGTCCCTCTCCCTGCAGGTCACAGTCACCACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGGTCGGGAAGACCATCGCCTCCTGCTTCTCTGTCTTTGCCATCTCCTTCTTTGCGCTCCCAGCGGTAGGTGCCCCGTGGGTGCGTTTTCCCTGGCTCCTTGGACAGCTGGGGTCCTGGGGTGGCTGCACGCCCCTCCCTGTGAGCAGACCCACTTACGTTCAGAACCAAGAGGGTGCTTCCCTTCTAGAAGGTGCTATACTCCAGAGCCCCACCTGCCCTCCCTGGGGCCCTGGATGCAGACTTCCCGTTTGCAGTCCCCACTGGGGTCCTTGCAGGCAGTGTGGGAGGCAGCCTGGAGTGGCTGTGCATGGGCGCAGTGTGGGGCAGGCCTGCTCACTCAGCCCTGGGTGGGTGGGCAATGCTGCTACCACGCCCCATGGAGGCAGAATCTTGTGCCTGGAGAGGGCACTTCCACGCTGTGGCTGGGGGGGTTTTGTTCCATGTCCTTTCCAGAAACCACAGATTGTAAGGTGATGTGTCTAGTTCACAATGCCTGTATGTGGGTGTGTGTGTGTGTGTTATGTGCGTATGTGCATAATATGTGTTTGTGTTGTGTGTGTATAATTTTATGTTACCTGTATACTATGGGTATGTGTATATGTATCACATGGGTGTGTATGTACTGTATGTGTGCGTGCATACTGTGTATACATATTGTATGTGCATATGTTGTATTTAGTATGTGTGCTGTGTTGTGTGCACATGTATGCATTATACATGTATATCAGTATGTTTGCATATGTGTATTTATGTATCTGTGTCACAGGTATGTATCCTATACATCTATGTGCGTATATGTGTGTGCACATGACATGTAGACATGTGTTAGTATGTGCTTGTGTTAGTGTTTGTGTGTTAGTGTGGGTTAGTGTATGTTTTAGTGTATGTTAGTGTGTTTGTGTGTTAGTGTGTGGGTTTGTGTTTGTGTTTCTGTGTTAGTGTGTGTGTTAGTGTGCGTTAGTTTGTGTTTGTGTGTGTATGTTAGTGTATGTTAGTGTTAGTGTGTGTTAGTATGTGGGTTAGTGTGTGTGTTTGTGTGTTAGTGTGTGTGTTAGTATGTGTTTGTGTTAGTGTGTATTTGTGTGTGTTAGTGTTTGTGTGTGTTTGTGGGTTAGTGTGTGTTAGTGTGGGTTACTGTGTGTTAGTGTTTGTGTGTTAGTGTGTTTTTGTGTGTGTTAGTGTGTGGGTTAGTGTTTGTGTGTGTGTCAGTGTGTGTGTGTTAGTGTGCATATCTATTGTGTGTGTGTGTGCATCACACATGCACGTGCACCACGTGATCTCCTCTGTAGACACGGAGTTCCCTAGCTTCAGGGTGGGTCCTTTGCATCCCATCAACCGTCCTTGGGCGAGGCAGCAGCAGGGTCCTCCTCAGCTGAGGACTGCCTTCTCACTTGCGACCCCAATCCCAGTGCCCAGTATGACCCCTTCCTGGGCACATACAGATGGACCAGCCCACCTGGCCCCCAGAATGGTCCCTGGGAATGGGTTAGAGCGGCTGCAGCCCTGCCCCATGGGACTGGGCCCCTTGCTGGATAAGACCTGGGGTATAAGTTCTGCCCCCCATGCTGGCCCAGGACAGGCAGGCTGGGCCCGAGGTGGGACTTGGGGGGGCTTCCAGCACTGACCATACCTGGCCTTCCCACAACGGTGACCGGTAACCACGTCCTGAGGCTGCACCCAGCTGGCAGTGGCCTGTGTGGACGGGAGCCTCCTGTCCATTCCTTCCCAGGGGATTCTTGGCTCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAACCGGCAGATCCCGGCGGCAGCCTCACTCAGGTGCGGTGCCTGCAAGGCCCTGGTCACTGTCATTTTGGTCACTGTTATTGTTGCATCCAGCCCTCACGGCCACCTGTCAGAACCATCATTGGCCCCTGCATCAGCTTGGCTGGCCTGTGGGGCATACTCTGCTTGTGGAAGCCTTGGCTGCTGTGGTGATGGGGTGAGCACGGGGCATTGGAGCCTGTCTTCCTCCAAAGCTGCTCCCATCAAGGGCCATGCCCTGTGGGCTGGAGAGGAGGCACGGCCGTGGCCATGCCAGGAGTGGACGTGGTTGGCTCTGAGGCTCCCTTGTGCTCCCATTCTCCCTCCCACTGCACAACAACCTGAGGGCTGAGTCTGGGAGTGGGGTGGCCAGGTGATTGTCCCCAAGGGAGGTAGGACCCAGCTGTGCAGTTGGTGCCTTCTGGAGGGCCTGGCATCCCTCAGGGCTCGGGAGGCCCTGGTGCCTGGAGGTGAGGACTGGCGATGGATGGCATGGGCCTCCCTCTGGGCTCACAAGGCCAGTGGGCTGGGAAAGGCAGAGCCCTGGAGCAACAGGGGCAGGAAGGTTCTGGAGGCAGGTGGGGAGGCAGGCAGTACCAAGCTCTGGGATGCTGGGCTCTGGCTCTGTCACTCCAGGCTCTCCAGGACCCACCAGAGAATGGGACTGCTCTGTTAACGTAAGCAAGGACTTGGCACAGGAGTCACTTGAGAATTGCGTCCCTGTGGGTCTCTCTTGTTGGCCACTGCAGGGCCAGGGCTGCCCTGAGGAACAGCCGCTGAGGTGCCCAGAGGGTGGGCGTTGCCGGGTTGAATGACAAGTGCCCACTGGGGATAGGGCCTCCGCCCAGTGCAGTGGCTGGGAGCACAGTGTCAGTTCCTCTGGGCACACTGGGCCTGATGTCCCCCAGGAAGGCCCAGGACCTGGGCAGCCCCCGCTGGCTGGCGTCCCCCCTGCAGTCCTCGTGAGCTCGCTGCCCCAGGCAAGGCCCAGGCTGTCAGGGGCCAGTCGCAGTCCTCCTGCACTCCTGGCTCAGCCATCGGGGGGGCTGTGTGCTCCCACCCTTAGCCTGGTTTTATGGCTTCACAGTTTCTCCTTCCTGGGAGACCATAAATCAGGCCCGTAAACCCGCCTTGGTCCCAGCATGAGCATGCTGGCCGCCCACGCCTGGCAGGGGACCACATTGGATTCCTGGTCCCACTCCCTGGGAACCACAGGTCCTTTGAAAGGGGTTCCCTCGGAAGCTGCACACACTGTGGGAGGACTGGAGTAGGGGCCCCAGGTGGCAGGTGTGCACAGGAGCAGGGCAGGGGTCATGGGGTTTGCCAGGGTTGGGGGACCACGTGGAGTGCTCAGCCTGTGTGTGTAACACTCGGGCCTTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATNNNN
pathogenic
170,792
Gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) variant at chromosome 11, position 2587636—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_1']
CTGAGGCTCCCTTGTGCTCCCATTCTCCCTCCCACTGCACAACAACCTGAGGGCTGAGTCTGGGAGTGGGGTGGCCAGGTGATTGTCCCCAAGGGAGGTAGGACCCAGCTGTGCAGTTGGTGCCTTCTGGAGGGCCTGGCATCCCTCAGGGCTCGGGAGGCCCTGGTGCCTGGAGGTGAGGACTGGCGATGGATGGCATGGGCCTCCCTCTGGGCTCACAAGGCCAGTGGGCTGGGAAAGGCAGAGCCCTGGAGCAACAGGGGCAGGAAGGTTCTGGAGGCAGGTGGGGAGGCAGGCAGTACCAAGCTCTGGGATGCTGGGCTCTGGCTCTGTCACTCCAGGCTCTCCAGGACCCACCAGAGAATGGGACTGCTCTGTTAACGTAAGCAAGGACTTGGCACAGGAGTCACTTGAGAATTGCGTCCCTGTGGGTCTCTCTTGTTGGCCACTGCAGGGCCAGGGCTGCCCTGAGGAACAGCCGCTGAGGTGCCCAGAGGGTGGGCGTTGCCGGGTTGAATGACAAGTGCCCACTGGGGATAGGGCCTCCGCCCAGTGCAGTGGCTGGGAGCACAGTGTCAGTTCCTCTGGGCACACTGGGCCTGATGTCCCCCAGGAAGGCCCAGGACCTGGGCAGCCCCCGCTGGCTGGCGTCCCCCCTGCAGTCCTCGTGAGCTCGCTGCCCCAGGCAAGGCCCAGGCTGTCAGGGGCCAGTCGCAGTCCTCCTGCACTCCTGGCTCAGCCATCGGGGGGGCTGTGTGCTCCCACCCTTAGCCTGGTTTTATGGCTTCACAGTTTCTCCTTCCTGGGAGACCATAAATCAGGCCCGTAAACCCGCCTTGGTCCCAGCATGAGCATGCTGGCCGCCCACGCCTGGCAGGGGACCACATTGGATTCCTGGTCCCACTCCCTGGGAACCACAGGTCCTTTGAAAGGGGTTCCCTCGGAAGCTGCACACACTGTGGGAGGACTGGAGTAGGGGCCCCAGGTGGCAGGTGTGCACAGGAGCAGGGCAGGGGTCATGGGGTTTGCCAGGGTTGGGGGACCACGTGGAGTGCTCAGCCTGTGTGTGTAACACTCGGGCCTTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCAGACCGCATGGAGGTGCTATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCGGAGCCACACTCTGCTGTCACCCAGCCCCAAACCCAAGAAGTCTGTGGTGGTGAGTAGCCCACCTGCCACCAGGGCAGGGCCTTCTTGCTAGCAGGTGGGGAGGCCGTGGGGGCCGCAGCACGAGGCTGGGATCTCACCATGCATTTGGCTTGGTACAGCCTGTGTCAGGGAGTCAGCATCGTTCGGGACACTGGGCCATACACCCGATGCTAGGTTCCTGCCATCCCAATGTCCCCCGACTTGGGGGTATGTAGGACCGGTCATTCCAGGGCCAGGGCATGAGAGCTCCAGAGATAGAGCTCTGGGAGCAGGACGGGCTGGAAAGAAGGCTCTTCAGAGGGCCTCAGGGTTGGGCTTTCCACACCGGGCGCAGTGGGTGGTGAGCAGTGGGCAGGGGGCCGCGCGCAGTGGGTGGTGGGAGGGGAGCAGCAGGGGAGGGAGGTGAGGCAGGGGTGCAGCGAAGGGGGTCTGGAGGTCACAGGGCAGTGGAGTTTGGCAGGCGCTGGGCAGAAGTCTTGTGACATGGCTGGGGTCATAAGGGGTTGGGGCTGACGCTGGCATGGTTCCCCTTCCTGGCCCGTGCCCACCCCCTGTGGAGAGACCTGGCCTTCCCAGTTTCCAGCTGCCGGTGGAGCCTCCGTGCCTACTGTTCCCTGTGCTGGAATGTTCCCCCAGATTTCCACACAGCCTGCTCCCTCACTTCAGGCGCCCTCTTCATGCCCTGCTGGCCCCCAGCCTGTTCCCCCGATATGCATTCTCCCCTACTGGTCACAGCCCCTGTTACCACCTCCACTGGCACCATCTTGTACGTTTATCTGCTTCCTGCTGTCCTGTTAGCGAGGCCGTGAGCTCACAGGGCAGCACCTGGGCCAAGCCCCCCACGTGACCCCCAGCAGCCCTGCCCTGTCTCTGTGTGAAGACACTGGAGCTGGCCCCAGGCCTCAGGTCCCTGTCCGGGTGTATGTGGCGGGGGCTGGGCTCGGGGCGGCTGCACAGGCACTCTGGGGCCGGCGTAGGGCCTGGCAGACGATGTCCAGGAACCGCTAATCTGTTGTCTTGTTTTTTTTAGGTAAAGAAAAAAAAGTTCAAGCTGGACAAAGACAATGGGGTGACTCCTGGAGAGAAGATGCTCACAGTCCCCCATATCACGTGCGACCCCCCAGAAGAGCGGCGGCTGGACCACTTCTCTGTCGACGGCTATGACAGTTCTGGTGAGAACCCCTCAGGCAGTTGGGGGCCGCGGGGCCGGGAAGGTCACTGCCTTTTTTGGGAGCCCGAGCAAGCCAGTGAGTTTCTCCCTTGGGCTGTGGTCTCTGACAACGAGGTATGAACAGACAGAGGGTGGAGCTTCTAGAAACTTCTGTAAACCTTCCAGGTGCCTTCCCCTCAGAGTCTTCCCAAGGAGGAGCTGGCCACGCCTTCTGTTGCGAGAGGAAGCCTGGGCAGGTGATGGGGTGGGTCGGCTCCATCCGGCTGTACTGAGGGAAGGGTGTGTTCCTGATTCCAGCTGCCTGGCTTCCTCCCAGCCGAGCCCACGGGCTCTGGTTGGAAAGTGGCTAGGGTGACCTCTGGGCCTACTGGCAGGGACGCCAGAGGGAAGGGGTTTGGGGATGGGGCCCTGGAGGAGCAGCACCAGGCCCGGGTAAAACGTGGGGGGCCTGACGGGACAGGCCCTTCTCATGCAGCCCAGGGGCCCCGAGTCTGTGCGTGATGGTGTGGCTCGGATCTGCGTCCCTCCTCTCACCCCTGCAGCGGGGGCTGGGATGAAGCTACCTTCTGCGGGACCTGACGATTGGATGGCAGACCTGTCTAGGGTTTAGATGTCCTCCATCCCTGGTGAGGGGTTTTACCCACGCTAACTCGTAAGCGTGGCTCTTTGACAGATGTGGAGAGCGAGGCCCTAGAGGCTGGGCTCGTGTGCTCCAGCCACACGGCGGGAATACAGCAGTGCCCGGTTGTGGCTCCCACGAGTGAGGCCCTGGAGGCTGGGCCCATGTGCTTCAGCCACACGGCAGGAACACAGCAGTGTCTGGTTGTGGC
CTGAGGCTCCCTTGTGCTCCCATTCTCCCTCCCACTGCACAACAACCTGAGGGCTGAGTCTGGGAGTGGGGTGGCCAGGTGATTGTCCCCAAGGGAGGTAGGACCCAGCTGTGCAGTTGGTGCCTTCTGGAGGGCCTGGCATCCCTCAGGGCTCGGGAGGCCCTGGTGCCTGGAGGTGAGGACTGGCGATGGATGGCATGGGCCTCCCTCTGGGCTCACAAGGCCAGTGGGCTGGGAAAGGCAGAGCCCTGGAGCAACAGGGGCAGGAAGGTTCTGGAGGCAGGTGGGGAGGCAGGCAGTACCAAGCTCTGGGATGCTGGGCTCTGGCTCTGTCACTCCAGGCTCTCCAGGACCCACCAGAGAATGGGACTGCTCTGTTAACGTAAGCAAGGACTTGGCACAGGAGTCACTTGAGAATTGCGTCCCTGTGGGTCTCTCTTGTTGGCCACTGCAGGGCCAGGGCTGCCCTGAGGAACAGCCGCTGAGGTGCCCAGAGGGTGGGCGTTGCCGGGTTGAATGACAAGTGCCCACTGGGGATAGGGCCTCCGCCCAGTGCAGTGGCTGGGAGCACAGTGTCAGTTCCTCTGGGCACACTGGGCCTGATGTCCCCCAGGAAGGCCCAGGACCTGGGCAGCCCCCGCTGGCTGGCGTCCCCCCTGCAGTCCTCGTGAGCTCGCTGCCCCAGGCAAGGCCCAGGCTGTCAGGGGCCAGTCGCAGTCCTCCTGCACTCCTGGCTCAGCCATCGGGGGGGCTGTGTGCTCCCACCCTTAGCCTGGTTTTATGGCTTCACAGTTTCTCCTTCCTGGGAGACCATAAATCAGGCCCGTAAACCCGCCTTGGTCCCAGCATGAGCATGCTGGCCGCCCACGCCTGGCAGGGGACCACATTGGATTCCTGGTCCCACTCCCTGGGAACCACAGGTCCTTTGAAAGGGGTTCCCTCGGAAGCTGCACACACTGTGGGAGGACTGGAGTAGGGGCCCCAGGTGGCAGGTGTGCACAGGAGCAGGGCAGGGGTCATGGGGTTTGCCAGGGTTGGGGGACCACGTGGAGTGCTCAGCCTGTGTGTGTAACACTCGGGCCTTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCAGACCGCATGGAGGTGCTATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCCGGAGCCACACTCTGCTGTCACCCAGCCCCAAACCCAAGAAGTCTGTGGTGGTGAGTAGCCCACCTGCCACCAGGGCAGGGCCTTCTTGCTAGCAGGTGGGGAGGCCGTGGGGGCCGCAGCACGAGGCTGGGATCTCACCATGCATTTGGCTTGGTACAGCCTGTGTCAGGGAGTCAGCATCGTTCGGGACACTGGGCCATACACCCGATGCTAGGTTCCTGCCATCCCAATGTCCCCCGACTTGGGGGTATGTAGGACCGGTCATTCCAGGGCCAGGGCATGAGAGCTCCAGAGATAGAGCTCTGGGAGCAGGACGGGCTGGAAAGAAGGCTCTTCAGAGGGCCTCAGGGTTGGGCTTTCCACACCGGGCGCAGTGGGTGGTGAGCAGTGGGCAGGGGGCCGCGCGCAGTGGGTGGTGGGAGGGGAGCAGCAGGGGAGGGAGGTGAGGCAGGGGTGCAGCGAAGGGGGTCTGGAGGTCACAGGGCAGTGGAGTTTGGCAGGCGCTGGGCAGAAGTCTTGTGACATGGCTGGGGTCATAAGGGGTTGGGGCTGACGCTGGCATGGTTCCCCTTCCTGGCCCGTGCCCACCCCCTGTGGAGAGACCTGGCCTTCCCAGTTTCCAGCTGCCGGTGGAGCCTCCGTGCCTACTGTTCCCTGTGCTGGAATGTTCCCCCAGATTTCCACACAGCCTGCTCCCTCACTTCAGGCGCCCTCTTCATGCCCTGCTGGCCCCCAGCCTGTTCCCCCGATATGCATTCTCCCCTACTGGTCACAGCCCCTGTTACCACCTCCACTGGCACCATCTTGTACGTTTATCTGCTTCCTGCTGTCCTGTTAGCGAGGCCGTGAGCTCACAGGGCAGCACCTGGGCCAAGCCCCCCACGTGACCCCCAGCAGCCCTGCCCTGTCTCTGTGTGAAGACACTGGAGCTGGCCCCAGGCCTCAGGTCCCTGTCCGGGTGTATGTGGCGGGGGCTGGGCTCGGGGCGGCTGCACAGGCACTCTGGGGCCGGCGTAGGGCCTGGCAGACGATGTCCAGGAACCGCTAATCTGTTGTCTTGTTTTTTTTAGGTAAAGAAAAAAAAGTTCAAGCTGGACAAAGACAATGGGGTGACTCCTGGAGAGAAGATGCTCACAGTCCCCCATATCACGTGCGACCCCCCAGAAGAGCGGCGGCTGGACCACTTCTCTGTCGACGGCTATGACAGTTCTGGTGAGAACCCCTCAGGCAGTTGGGGGCCGCGGGGCCGGGAAGGTCACTGCCTTTTTTGGGAGCCCGAGCAAGCCAGTGAGTTTCTCCCTTGGGCTGTGGTCTCTGACAACGAGGTATGAACAGACAGAGGGTGGAGCTTCTAGAAACTTCTGTAAACCTTCCAGGTGCCTTCCCCTCAGAGTCTTCCCAAGGAGGAGCTGGCCACGCCTTCTGTTGCGAGAGGAAGCCTGGGCAGGTGATGGGGTGGGTCGGCTCCATCCGGCTGTACTGAGGGAAGGGTGTGTTCCTGATTCCAGCTGCCTGGCTTCCTCCCAGCCGAGCCCACGGGCTCTGGTTGGAAAGTGGCTAGGGTGACCTCTGGGCCTACTGGCAGGGACGCCAGAGGGAAGGGGTTTGGGGATGGGGCCCTGGAGGAGCAGCACCAGGCCCGGGTAAAACGTGGGGGGCCTGACGGGACAGGCCCTTCTCATGCAGCCCAGGGGCCCCGAGTCTGTGCGTGATGGTGTGGCTCGGATCTGCGTCCCTCCTCTCACCCCTGCAGCGGGGGCTGGGATGAAGCTACCTTCTGCGGGACCTGACGATTGGATGGCAGACCTGTCTAGGGTTTAGATGTCCTCCATCCCTGGTGAGGGGTTTTACCCACGCTAACTCGTAAGCGTGGCTCTTTGACAGATGTGGAGAGCGAGGCCCTAGAGGCTGGGCTCGTGTGCTCCAGCCACACGGCGGGAATACAGCAGTGCCCGGTTGTGGCTCCCACGAGTGAGGCCCTGGAGGCTGGGCCCATGTGCTTCAGCCACACGGCAGGAACACAGCAGTGTCTGGTTGTGG
pathogenic
170,810
Is the genetic variant on chromosome 11, position 2587679, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Long_QT_syndrome']
AACCTGAGGGCTGAGTCTGGGAGTGGGGTGGCCAGGTGATTGTCCCCAAGGGAGGTAGGACCCAGCTGTGCAGTTGGTGCCTTCTGGAGGGCCTGGCATCCCTCAGGGCTCGGGAGGCCCTGGTGCCTGGAGGTGAGGACTGGCGATGGATGGCATGGGCCTCCCTCTGGGCTCACAAGGCCAGTGGGCTGGGAAAGGCAGAGCCCTGGAGCAACAGGGGCAGGAAGGTTCTGGAGGCAGGTGGGGAGGCAGGCAGTACCAAGCTCTGGGATGCTGGGCTCTGGCTCTGTCACTCCAGGCTCTCCAGGACCCACCAGAGAATGGGACTGCTCTGTTAACGTAAGCAAGGACTTGGCACAGGAGTCACTTGAGAATTGCGTCCCTGTGGGTCTCTCTTGTTGGCCACTGCAGGGCCAGGGCTGCCCTGAGGAACAGCCGCTGAGGTGCCCAGAGGGTGGGCGTTGCCGGGTTGAATGACAAGTGCCCACTGGGGATAGGGCCTCCGCCCAGTGCAGTGGCTGGGAGCACAGTGTCAGTTCCTCTGGGCACACTGGGCCTGATGTCCCCCAGGAAGGCCCAGGACCTGGGCAGCCCCCGCTGGCTGGCGTCCCCCCTGCAGTCCTCGTGAGCTCGCTGCCCCAGGCAAGGCCCAGGCTGTCAGGGGCCAGTCGCAGTCCTCCTGCACTCCTGGCTCAGCCATCGGGGGGGCTGTGTGCTCCCACCCTTAGCCTGGTTTTATGGCTTCACAGTTTCTCCTTCCTGGGAGACCATAAATCAGGCCCGTAAACCCGCCTTGGTCCCAGCATGAGCATGCTGGCCGCCCACGCCTGGCAGGGGACCACATTGGATTCCTGGTCCCACTCCCTGGGAACCACAGGTCCTTTGAAAGGGGTTCCCTCGGAAGCTGCACACACTGTGGGAGGACTGGAGTAGGGGCCCCAGGTGGCAGGTGTGCACAGGAGCAGGGCAGGGGTCATGGGGTTTGCCAGGGTTGGGGGACCACGTGGAGTGCTCAGCCTGTGTGTGTAACACTCGGGCCTTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCAGACCGCATGGAGGTGCTATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCGGAGCCACACTCTGCTGTCACCCAGCCCCAAACCCAAGAAGTCTGTGGTGGTGAGTAGCCCACCTGCCACCAGGGCAGGGCCTTCTTGCTAGCAGGTGGGGAGGCCGTGGGGGCCGCAGCACGAGGCTGGGATCTCACCATGCATTTGGCTTGGTACAGCCTGTGTCAGGGAGTCAGCATCGTTCGGGACACTGGGCCATACACCCGATGCTAGGTTCCTGCCATCCCAATGTCCCCCGACTTGGGGGTATGTAGGACCGGTCATTCCAGGGCCAGGGCATGAGAGCTCCAGAGATAGAGCTCTGGGAGCAGGACGGGCTGGAAAGAAGGCTCTTCAGAGGGCCTCAGGGTTGGGCTTTCCACACCGGGCGCAGTGGGTGGTGAGCAGTGGGCAGGGGGCCGCGCGCAGTGGGTGGTGGGAGGGGAGCAGCAGGGGAGGGAGGTGAGGCAGGGGTGCAGCGAAGGGGGTCTGGAGGTCACAGGGCAGTGGAGTTTGGCAGGCGCTGGGCAGAAGTCTTGTGACATGGCTGGGGTCATAAGGGGTTGGGGCTGACGCTGGCATGGTTCCCCTTCCTGGCCCGTGCCCACCCCCTGTGGAGAGACCTGGCCTTCCCAGTTTCCAGCTGCCGGTGGAGCCTCCGTGCCTACTGTTCCCTGTGCTGGAATGTTCCCCCAGATTTCCACACAGCCTGCTCCCTCACTTCAGGCGCCCTCTTCATGCCCTGCTGGCCCCCAGCCTGTTCCCCCGATATGCATTCTCCCCTACTGGTCACAGCCCCTGTTACCACCTCCACTGGCACCATCTTGTACGTTTATCTGCTTCCTGCTGTCCTGTTAGCGAGGCCGTGAGCTCACAGGGCAGCACCTGGGCCAAGCCCCCCACGTGACCCCCAGCAGCCCTGCCCTGTCTCTGTGTGAAGACACTGGAGCTGGCCCCAGGCCTCAGGTCCCTGTCCGGGTGTATGTGGCGGGGGCTGGGCTCGGGGCGGCTGCACAGGCACTCTGGGGCCGGCGTAGGGCCTGGCAGACGATGTCCAGGAACCGCTAATCTGTTGTCTTGTTTTTTTTAGGTAAAGAAAAAAAAGTTCAAGCTGGACAAAGACAATGGGGTGACTCCTGGAGAGAAGATGCTCACAGTCCCCCATATCACGTGCGACCCCCCAGAAGAGCGGCGGCTGGACCACTTCTCTGTCGACGGCTATGACAGTTCTGGTGAGAACCCCTCAGGCAGTTGGGGGCCGCGGGGCCGGGAAGGTCACTGCCTTTTTTGGGAGCCCGAGCAAGCCAGTGAGTTTCTCCCTTGGGCTGTGGTCTCTGACAACGAGGTATGAACAGACAGAGGGTGGAGCTTCTAGAAACTTCTGTAAACCTTCCAGGTGCCTTCCCCTCAGAGTCTTCCCAAGGAGGAGCTGGCCACGCCTTCTGTTGCGAGAGGAAGCCTGGGCAGGTGATGGGGTGGGTCGGCTCCATCCGGCTGTACTGAGGGAAGGGTGTGTTCCTGATTCCAGCTGCCTGGCTTCCTCCCAGCCGAGCCCACGGGCTCTGGTTGGAAAGTGGCTAGGGTGACCTCTGGGCCTACTGGCAGGGACGCCAGAGGGAAGGGGTTTGGGGATGGGGCCCTGGAGGAGCAGCACCAGGCCCGGGTAAAACGTGGGGGGCCTGACGGGACAGGCCCTTCTCATGCAGCCCAGGGGCCCCGAGTCTGTGCGTGATGGTGTGGCTCGGATCTGCGTCCCTCCTCTCACCCCTGCAGCGGGGGCTGGGATGAAGCTACCTTCTGCGGGACCTGACGATTGGATGGCAGACCTGTCTAGGGTTTAGATGTCCTCCATCCCTGGTGAGGGGTTTTACCCACGCTAACTCGTAAGCGTGGCTCTTTGACAGATGTGGAGAGCGAGGCCCTAGAGGCTGGGCTCGTGTGCTCCAGCCACACGGCGGGAATACAGCAGTGCCCGGTTGTGGCTCCCACGAGTGAGGCCCTGGAGGCTGGGCCCATGTGCTTCAGCCACACGGCAGGAACACAGCAGTGTCTGGTTGTGGCCCCCCCATGCCTCCCGCCAACTTCTGCTGTTCCCAGAAGTGCA
AACCTGAGGGCTGAGTCTGGGAGTGGGGTGGCCAGGTGATTGTCCCCAAGGGAGGTAGGACCCAGCTGTGCAGTTGGTGCCTTCTGGAGGGCCTGGCATCCCTCAGGGCTCGGGAGGCCCTGGTGCCTGGAGGTGAGGACTGGCGATGGATGGCATGGGCCTCCCTCTGGGCTCACAAGGCCAGTGGGCTGGGAAAGGCAGAGCCCTGGAGCAACAGGGGCAGGAAGGTTCTGGAGGCAGGTGGGGAGGCAGGCAGTACCAAGCTCTGGGATGCTGGGCTCTGGCTCTGTCACTCCAGGCTCTCCAGGACCCACCAGAGAATGGGACTGCTCTGTTAACGTAAGCAAGGACTTGGCACAGGAGTCACTTGAGAATTGCGTCCCTGTGGGTCTCTCTTGTTGGCCACTGCAGGGCCAGGGCTGCCCTGAGGAACAGCCGCTGAGGTGCCCAGAGGGTGGGCGTTGCCGGGTTGAATGACAAGTGCCCACTGGGGATAGGGCCTCCGCCCAGTGCAGTGGCTGGGAGCACAGTGTCAGTTCCTCTGGGCACACTGGGCCTGATGTCCCCCAGGAAGGCCCAGGACCTGGGCAGCCCCCGCTGGCTGGCGTCCCCCCTGCAGTCCTCGTGAGCTCGCTGCCCCAGGCAAGGCCCAGGCTGTCAGGGGCCAGTCGCAGTCCTCCTGCACTCCTGGCTCAGCCATCGGGGGGGCTGTGTGCTCCCACCCTTAGCCTGGTTTTATGGCTTCACAGTTTCTCCTTCCTGGGAGACCATAAATCAGGCCCGTAAACCCGCCTTGGTCCCAGCATGAGCATGCTGGCCGCCCACGCCTGGCAGGGGACCACATTGGATTCCTGGTCCCACTCCCTGGGAACCACAGGTCCTTTGAAAGGGGTTCCCTCGGAAGCTGCACACACTGTGGGAGGACTGGAGTAGGGGCCCCAGGTGGCAGGTGTGCACAGGAGCAGGGCAGGGGTCATGGGGTTTGCCAGGGTTGGGGGACCACGTGGAGTGCTCAGCCTGTGTGTGTAACACTCGGGCCTTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCAGACCGCATGGAGGTGCTATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCGGAGCCACACTCTGCTGTCACCCAGCCCCAAACCCAAAAGTCTGTGGTGGTGAGTAGCCCACCTGCCACCAGGGCAGGGCCTTCTTGCTAGCAGGTGGGGAGGCCGTGGGGGCCGCAGCACGAGGCTGGGATCTCACCATGCATTTGGCTTGGTACAGCCTGTGTCAGGGAGTCAGCATCGTTCGGGACACTGGGCCATACACCCGATGCTAGGTTCCTGCCATCCCAATGTCCCCCGACTTGGGGGTATGTAGGACCGGTCATTCCAGGGCCAGGGCATGAGAGCTCCAGAGATAGAGCTCTGGGAGCAGGACGGGCTGGAAAGAAGGCTCTTCAGAGGGCCTCAGGGTTGGGCTTTCCACACCGGGCGCAGTGGGTGGTGAGCAGTGGGCAGGGGGCCGCGCGCAGTGGGTGGTGGGAGGGGAGCAGCAGGGGAGGGAGGTGAGGCAGGGGTGCAGCGAAGGGGGTCTGGAGGTCACAGGGCAGTGGAGTTTGGCAGGCGCTGGGCAGAAGTCTTGTGACATGGCTGGGGTCATAAGGGGTTGGGGCTGACGCTGGCATGGTTCCCCTTCCTGGCCCGTGCCCACCCCCTGTGGAGAGACCTGGCCTTCCCAGTTTCCAGCTGCCGGTGGAGCCTCCGTGCCTACTGTTCCCTGTGCTGGAATGTTCCCCCAGATTTCCACACAGCCTGCTCCCTCACTTCAGGCGCCCTCTTCATGCCCTGCTGGCCCCCAGCCTGTTCCCCCGATATGCATTCTCCCCTACTGGTCACAGCCCCTGTTACCACCTCCACTGGCACCATCTTGTACGTTTATCTGCTTCCTGCTGTCCTGTTAGCGAGGCCGTGAGCTCACAGGGCAGCACCTGGGCCAAGCCCCCCACGTGACCCCCAGCAGCCCTGCCCTGTCTCTGTGTGAAGACACTGGAGCTGGCCCCAGGCCTCAGGTCCCTGTCCGGGTGTATGTGGCGGGGGCTGGGCTCGGGGCGGCTGCACAGGCACTCTGGGGCCGGCGTAGGGCCTGGCAGACGATGTCCAGGAACCGCTAATCTGTTGTCTTGTTTTTTTTAGGTAAAGAAAAAAAAGTTCAAGCTGGACAAAGACAATGGGGTGACTCCTGGAGAGAAGATGCTCACAGTCCCCCATATCACGTGCGACCCCCCAGAAGAGCGGCGGCTGGACCACTTCTCTGTCGACGGCTATGACAGTTCTGGTGAGAACCCCTCAGGCAGTTGGGGGCCGCGGGGCCGGGAAGGTCACTGCCTTTTTTGGGAGCCCGAGCAAGCCAGTGAGTTTCTCCCTTGGGCTGTGGTCTCTGACAACGAGGTATGAACAGACAGAGGGTGGAGCTTCTAGAAACTTCTGTAAACCTTCCAGGTGCCTTCCCCTCAGAGTCTTCCCAAGGAGGAGCTGGCCACGCCTTCTGTTGCGAGAGGAAGCCTGGGCAGGTGATGGGGTGGGTCGGCTCCATCCGGCTGTACTGAGGGAAGGGTGTGTTCCTGATTCCAGCTGCCTGGCTTCCTCCCAGCCGAGCCCACGGGCTCTGGTTGGAAAGTGGCTAGGGTGACCTCTGGGCCTACTGGCAGGGACGCCAGAGGGAAGGGGTTTGGGGATGGGGCCCTGGAGGAGCAGCACCAGGCCCGGGTAAAACGTGGGGGGCCTGACGGGACAGGCCCTTCTCATGCAGCCCAGGGGCCCCGAGTCTGTGCGTGATGGTGTGGCTCGGATCTGCGTCCCTCCTCTCACCCCTGCAGCGGGGGCTGGGATGAAGCTACCTTCTGCGGGACCTGACGATTGGATGGCAGACCTGTCTAGGGTTTAGATGTCCTCCATCCCTGGTGAGGGGTTTTACCCACGCTAACTCGTAAGCGTGGCTCTTTGACAGATGTGGAGAGCGAGGCCCTAGAGGCTGGGCTCGTGTGCTCCAGCCACACGGCGGGAATACAGCAGTGCCCGGTTGTGGCTCCCACGAGTGAGGCCCTGGAGGCTGGGCCCATGTGCTTCAGCCACACGGCAGGAACACAGCAGTGTCTGGTTGTGGCCCCCCCATGCCTCCCGCCAACTTCTGCTGTTCCCAGAAGTGCAN
pathogenic
170,816
Does the chromosome 11 mutation at position 2587690 within gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome_1']
TGAGTCTGGGAGTGGGGTGGCCAGGTGATTGTCCCCAAGGGAGGTAGGACCCAGCTGTGCAGTTGGTGCCTTCTGGAGGGCCTGGCATCCCTCAGGGCTCGGGAGGCCCTGGTGCCTGGAGGTGAGGACTGGCGATGGATGGCATGGGCCTCCCTCTGGGCTCACAAGGCCAGTGGGCTGGGAAAGGCAGAGCCCTGGAGCAACAGGGGCAGGAAGGTTCTGGAGGCAGGTGGGGAGGCAGGCAGTACCAAGCTCTGGGATGCTGGGCTCTGGCTCTGTCACTCCAGGCTCTCCAGGACCCACCAGAGAATGGGACTGCTCTGTTAACGTAAGCAAGGACTTGGCACAGGAGTCACTTGAGAATTGCGTCCCTGTGGGTCTCTCTTGTTGGCCACTGCAGGGCCAGGGCTGCCCTGAGGAACAGCCGCTGAGGTGCCCAGAGGGTGGGCGTTGCCGGGTTGAATGACAAGTGCCCACTGGGGATAGGGCCTCCGCCCAGTGCAGTGGCTGGGAGCACAGTGTCAGTTCCTCTGGGCACACTGGGCCTGATGTCCCCCAGGAAGGCCCAGGACCTGGGCAGCCCCCGCTGGCTGGCGTCCCCCCTGCAGTCCTCGTGAGCTCGCTGCCCCAGGCAAGGCCCAGGCTGTCAGGGGCCAGTCGCAGTCCTCCTGCACTCCTGGCTCAGCCATCGGGGGGGCTGTGTGCTCCCACCCTTAGCCTGGTTTTATGGCTTCACAGTTTCTCCTTCCTGGGAGACCATAAATCAGGCCCGTAAACCCGCCTTGGTCCCAGCATGAGCATGCTGGCCGCCCACGCCTGGCAGGGGACCACATTGGATTCCTGGTCCCACTCCCTGGGAACCACAGGTCCTTTGAAAGGGGTTCCCTCGGAAGCTGCACACACTGTGGGAGGACTGGAGTAGGGGCCCCAGGTGGCAGGTGTGCACAGGAGCAGGGCAGGGGTCATGGGGTTTGCCAGGGTTGGGGGACCACGTGGAGTGCTCAGCCTGTGTGTGTAACACTCGGGCCTTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCAGACCGCATGGAGGTGCTATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCGGAGCCACACTCTGCTGTCACCCAGCCCCAAACCCAAGAAGTCTGTGGTGGTGAGTAGCCCACCTGCCACCAGGGCAGGGCCTTCTTGCTAGCAGGTGGGGAGGCCGTGGGGGCCGCAGCACGAGGCTGGGATCTCACCATGCATTTGGCTTGGTACAGCCTGTGTCAGGGAGTCAGCATCGTTCGGGACACTGGGCCATACACCCGATGCTAGGTTCCTGCCATCCCAATGTCCCCCGACTTGGGGGTATGTAGGACCGGTCATTCCAGGGCCAGGGCATGAGAGCTCCAGAGATAGAGCTCTGGGAGCAGGACGGGCTGGAAAGAAGGCTCTTCAGAGGGCCTCAGGGTTGGGCTTTCCACACCGGGCGCAGTGGGTGGTGAGCAGTGGGCAGGGGGCCGCGCGCAGTGGGTGGTGGGAGGGGAGCAGCAGGGGAGGGAGGTGAGGCAGGGGTGCAGCGAAGGGGGTCTGGAGGTCACAGGGCAGTGGAGTTTGGCAGGCGCTGGGCAGAAGTCTTGTGACATGGCTGGGGTCATAAGGGGTTGGGGCTGACGCTGGCATGGTTCCCCTTCCTGGCCCGTGCCCACCCCCTGTGGAGAGACCTGGCCTTCCCAGTTTCCAGCTGCCGGTGGAGCCTCCGTGCCTACTGTTCCCTGTGCTGGAATGTTCCCCCAGATTTCCACACAGCCTGCTCCCTCACTTCAGGCGCCCTCTTCATGCCCTGCTGGCCCCCAGCCTGTTCCCCCGATATGCATTCTCCCCTACTGGTCACAGCCCCTGTTACCACCTCCACTGGCACCATCTTGTACGTTTATCTGCTTCCTGCTGTCCTGTTAGCGAGGCCGTGAGCTCACAGGGCAGCACCTGGGCCAAGCCCCCCACGTGACCCCCAGCAGCCCTGCCCTGTCTCTGTGTGAAGACACTGGAGCTGGCCCCAGGCCTCAGGTCCCTGTCCGGGTGTATGTGGCGGGGGCTGGGCTCGGGGCGGCTGCACAGGCACTCTGGGGCCGGCGTAGGGCCTGGCAGACGATGTCCAGGAACCGCTAATCTGTTGTCTTGTTTTTTTTAGGTAAAGAAAAAAAAGTTCAAGCTGGACAAAGACAATGGGGTGACTCCTGGAGAGAAGATGCTCACAGTCCCCCATATCACGTGCGACCCCCCAGAAGAGCGGCGGCTGGACCACTTCTCTGTCGACGGCTATGACAGTTCTGGTGAGAACCCCTCAGGCAGTTGGGGGCCGCGGGGCCGGGAAGGTCACTGCCTTTTTTGGGAGCCCGAGCAAGCCAGTGAGTTTCTCCCTTGGGCTGTGGTCTCTGACAACGAGGTATGAACAGACAGAGGGTGGAGCTTCTAGAAACTTCTGTAAACCTTCCAGGTGCCTTCCCCTCAGAGTCTTCCCAAGGAGGAGCTGGCCACGCCTTCTGTTGCGAGAGGAAGCCTGGGCAGGTGATGGGGTGGGTCGGCTCCATCCGGCTGTACTGAGGGAAGGGTGTGTTCCTGATTCCAGCTGCCTGGCTTCCTCCCAGCCGAGCCCACGGGCTCTGGTTGGAAAGTGGCTAGGGTGACCTCTGGGCCTACTGGCAGGGACGCCAGAGGGAAGGGGTTTGGGGATGGGGCCCTGGAGGAGCAGCACCAGGCCCGGGTAAAACGTGGGGGGCCTGACGGGACAGGCCCTTCTCATGCAGCCCAGGGGCCCCGAGTCTGTGCGTGATGGTGTGGCTCGGATCTGCGTCCCTCCTCTCACCCCTGCAGCGGGGGCTGGGATGAAGCTACCTTCTGCGGGACCTGACGATTGGATGGCAGACCTGTCTAGGGTTTAGATGTCCTCCATCCCTGGTGAGGGGTTTTACCCACGCTAACTCGTAAGCGTGGCTCTTTGACAGATGTGGAGAGCGAGGCCCTAGAGGCTGGGCTCGTGTGCTCCAGCCACACGGCGGGAATACAGCAGTGCCCGGTTGTGGCTCCCACGAGTGAGGCCCTGGAGGCTGGGCCCATGTGCTTCAGCCACACGGCAGGAACACAGCAGTGTCTGGTTGTGGCCCCCCCATGCCTCCCGCCAACTTCTGCTGTTCCCAGAAGTGCAGCTGGCTGAGC
TGAGTCTGGGAGTGGGGTGGCCAGGTGATTGTCCCCAAGGGAGGTAGGACCCAGCTGTGCAGTTGGTGCCTTCTGGAGGGCCTGGCATCCCTCAGGGCTCGGGAGGCCCTGGTGCCTGGAGGTGAGGACTGGCGATGGATGGCATGGGCCTCCCTCTGGGCTCACAAGGCCAGTGGGCTGGGAAAGGCAGAGCCCTGGAGCAACAGGGGCAGGAAGGTTCTGGAGGCAGGTGGGGAGGCAGGCAGTACCAAGCTCTGGGATGCTGGGCTCTGGCTCTGTCACTCCAGGCTCTCCAGGACCCACCAGAGAATGGGACTGCTCTGTTAACGTAAGCAAGGACTTGGCACAGGAGTCACTTGAGAATTGCGTCCCTGTGGGTCTCTCTTGTTGGCCACTGCAGGGCCAGGGCTGCCCTGAGGAACAGCCGCTGAGGTGCCCAGAGGGTGGGCGTTGCCGGGTTGAATGACAAGTGCCCACTGGGGATAGGGCCTCCGCCCAGTGCAGTGGCTGGGAGCACAGTGTCAGTTCCTCTGGGCACACTGGGCCTGATGTCCCCCAGGAAGGCCCAGGACCTGGGCAGCCCCCGCTGGCTGGCGTCCCCCCTGCAGTCCTCGTGAGCTCGCTGCCCCAGGCAAGGCCCAGGCTGTCAGGGGCCAGTCGCAGTCCTCCTGCACTCCTGGCTCAGCCATCGGGGGGGCTGTGTGCTCCCACCCTTAGCCTGGTTTTATGGCTTCACAGTTTCTCCTTCCTGGGAGACCATAAATCAGGCCCGTAAACCCGCCTTGGTCCCAGCATGAGCATGCTGGCCGCCCACGCCTGGCAGGGGACCACATTGGATTCCTGGTCCCACTCCCTGGGAACCACAGGTCCTTTGAAAGGGGTTCCCTCGGAAGCTGCACACACTGTGGGAGGACTGGAGTAGGGGCCCCAGGTGGCAGGTGTGCACAGGAGCAGGGCAGGGGTCATGGGGTTTGCCAGGGTTGGGGGACCACGTGGAGTGCTCAGCCTGTGTGTGTAACACTCGGGCCTTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCAGACCGCATGGAGGTGCTATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCGGAGCCACACTCTGCTGTCACCCAGCCCCAAACCCAAGAAGTCTGTGGTTGGTGAGTAGCCCACCTGCCACCAGGGCAGGGCCTTCTTGCTAGCAGGTGGGGAGGCCGTGGGGGCCGCAGCACGAGGCTGGGATCTCACCATGCATTTGGCTTGGTACAGCCTGTGTCAGGGAGTCAGCATCGTTCGGGACACTGGGCCATACACCCGATGCTAGGTTCCTGCCATCCCAATGTCCCCCGACTTGGGGGTATGTAGGACCGGTCATTCCAGGGCCAGGGCATGAGAGCTCCAGAGATAGAGCTCTGGGAGCAGGACGGGCTGGAAAGAAGGCTCTTCAGAGGGCCTCAGGGTTGGGCTTTCCACACCGGGCGCAGTGGGTGGTGAGCAGTGGGCAGGGGGCCGCGCGCAGTGGGTGGTGGGAGGGGAGCAGCAGGGGAGGGAGGTGAGGCAGGGGTGCAGCGAAGGGGGTCTGGAGGTCACAGGGCAGTGGAGTTTGGCAGGCGCTGGGCAGAAGTCTTGTGACATGGCTGGGGTCATAAGGGGTTGGGGCTGACGCTGGCATGGTTCCCCTTCCTGGCCCGTGCCCACCCCCTGTGGAGAGACCTGGCCTTCCCAGTTTCCAGCTGCCGGTGGAGCCTCCGTGCCTACTGTTCCCTGTGCTGGAATGTTCCCCCAGATTTCCACACAGCCTGCTCCCTCACTTCAGGCGCCCTCTTCATGCCCTGCTGGCCCCCAGCCTGTTCCCCCGATATGCATTCTCCCCTACTGGTCACAGCCCCTGTTACCACCTCCACTGGCACCATCTTGTACGTTTATCTGCTTCCTGCTGTCCTGTTAGCGAGGCCGTGAGCTCACAGGGCAGCACCTGGGCCAAGCCCCCCACGTGACCCCCAGCAGCCCTGCCCTGTCTCTGTGTGAAGACACTGGAGCTGGCCCCAGGCCTCAGGTCCCTGTCCGGGTGTATGTGGCGGGGGCTGGGCTCGGGGCGGCTGCACAGGCACTCTGGGGCCGGCGTAGGGCCTGGCAGACGATGTCCAGGAACCGCTAATCTGTTGTCTTGTTTTTTTTAGGTAAAGAAAAAAAAGTTCAAGCTGGACAAAGACAATGGGGTGACTCCTGGAGAGAAGATGCTCACAGTCCCCCATATCACGTGCGACCCCCCAGAAGAGCGGCGGCTGGACCACTTCTCTGTCGACGGCTATGACAGTTCTGGTGAGAACCCCTCAGGCAGTTGGGGGCCGCGGGGCCGGGAAGGTCACTGCCTTTTTTGGGAGCCCGAGCAAGCCAGTGAGTTTCTCCCTTGGGCTGTGGTCTCTGACAACGAGGTATGAACAGACAGAGGGTGGAGCTTCTAGAAACTTCTGTAAACCTTCCAGGTGCCTTCCCCTCAGAGTCTTCCCAAGGAGGAGCTGGCCACGCCTTCTGTTGCGAGAGGAAGCCTGGGCAGGTGATGGGGTGGGTCGGCTCCATCCGGCTGTACTGAGGGAAGGGTGTGTTCCTGATTCCAGCTGCCTGGCTTCCTCCCAGCCGAGCCCACGGGCTCTGGTTGGAAAGTGGCTAGGGTGACCTCTGGGCCTACTGGCAGGGACGCCAGAGGGAAGGGGTTTGGGGATGGGGCCCTGGAGGAGCAGCACCAGGCCCGGGTAAAACGTGGGGGGCCTGACGGGACAGGCCCTTCTCATGCAGCCCAGGGGCCCCGAGTCTGTGCGTGATGGTGTGGCTCGGATCTGCGTCCCTCCTCTCACCCCTGCAGCGGGGGCTGGGATGAAGCTACCTTCTGCGGGACCTGACGATTGGATGGCAGACCTGTCTAGGGTTTAGATGTCCTCCATCCCTGGTGAGGGGTTTTACCCACGCTAACTCGTAAGCGTGGCTCTTTGACAGATGTGGAGAGCGAGGCCCTAGAGGCTGGGCTCGTGTGCTCCAGCCACACGGCGGGAATACAGCAGTGCCCGGTTGTGGCTCCCACGAGTGAGGCCCTGGAGGCTGGGCCCATGTGCTTCAGCCACACGGCAGGAACACAGCAGTGTCTGGTTGTGGCCCCCCCATGCCTCCCGCCAACTTCTGCTGTTCCCAGAAGTGCAGCTGGCTGAG
pathogenic
170,818
Is the chromosome 11, position 2588702 variant in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
benign
GTGTAACACTCGGGCCTTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCAGACCGCATGGAGGTGCTATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCGGAGCCACACTCTGCTGTCACCCAGCCCCAAACCCAAGAAGTCTGTGGTGGTGAGTAGCCCACCTGCCACCAGGGCAGGGCCTTCTTGCTAGCAGGTGGGGAGGCCGTGGGGGCCGCAGCACGAGGCTGGGATCTCACCATGCATTTGGCTTGGTACAGCCTGTGTCAGGGAGTCAGCATCGTTCGGGACACTGGGCCATACACCCGATGCTAGGTTCCTGCCATCCCAATGTCCCCCGACTTGGGGGTATGTAGGACCGGTCATTCCAGGGCCAGGGCATGAGAGCTCCAGAGATAGAGCTCTGGGAGCAGGACGGGCTGGAAAGAAGGCTCTTCAGAGGGCCTCAGGGTTGGGCTTTCCACACCGGGCGCAGTGGGTGGTGAGCAGTGGGCAGGGGGCCGCGCGCAGTGGGTGGTGGGAGGGGAGCAGCAGGGGAGGGAGGTGAGGCAGGGGTGCAGCGAAGGGGGTCTGGAGGTCACAGGGCAGTGGAGTTTGGCAGGCGCTGGGCAGAAGTCTTGTGACATGGCTGGGGTCATAAGGGGTTGGGGCTGACGCTGGCATGGTTCCCCTTCCTGGCCCGTGCCCACCCCCTGTGGAGAGACCTGGCCTTCCCAGTTTCCAGCTGCCGGTGGAGCCTCCGTGCCTACTGTTCCCTGTGCTGGAATGTTCCCCCAGATTTCCACACAGCCTGCTCCCTCACTTCAGGCGCCCTCTTCATGCCCTGCTGGCCCCCAGCCTGTTCCCCCGATATGCATTCTCCCCTACTGGTCACAGCCCCTGTTACCACCTCCACTGGCACCATCTTGTACGTTTATCTGCTTCCTGCTGTCCTGTTAGCGAGGCCGTGAGCTCACAGGGCAGCACCTGGGCCAAGCCCCCCACGTGACCCCCAGCAGCCCTGCCCTGTCTCTGTGTGAAGACACTGGAGCTGGCCCCAGGCCTCAGGTCCCTGTCCGGGTGTATGTGGCGGGGGCTGGGCTCGGGGCGGCTGCACAGGCACTCTGGGGCCGGCGTAGGGCCTGGCAGACGATGTCCAGGAACCGCTAATCTGTTGTCTTGTTTTTTTTAGGTAAAGAAAAAAAAGTTCAAGCTGGACAAAGACAATGGGGTGACTCCTGGAGAGAAGATGCTCACAGTCCCCCATATCACGTGCGACCCCCCAGAAGAGCGGCGGCTGGACCACTTCTCTGTCGACGGCTATGACAGTTCTGGTGAGAACCCCTCAGGCAGTTGGGGGCCGCGGGGCCGGGAAGGTCACTGCCTTTTTTGGGAGCCCGAGCAAGCCAGTGAGTTTCTCCCTTGGGCTGTGGTCTCTGACAACGAGGTATGAACAGACAGAGGGTGGAGCTTCTAGAAACTTCTGTAAACCTTCCAGGTGCCTTCCCCTCAGAGTCTTCCCAAGGAGGAGCTGGCCACGCCTTCTGTTGCGAGAGGAAGCCTGGGCAGGTGATGGGGTGGGTCGGCTCCATCCGGCTGTACTGAGGGAAGGGTGTGTTCCTGATTCCAGCTGCCTGGCTTCCTCCCAGCCGAGCCCACGGGCTCTGGTTGGAAAGTGGCTAGGGTGACCTCTGGGCCTACTGGCAGGGACGCCAGAGGGAAGGGGTTTGGGGATGGGGCCCTGGAGGAGCAGCACCAGGCCCGGGTAAAACGTGGGGGGCCTGACGGGACAGGCCCTTCTCATGCAGCCCAGGGGCCCCGAGTCTGTGCGTGATGGTGTGGCTCGGATCTGCGTCCCTCCTCTCACCCCTGCAGCGGGGGCTGGGATGAAGCTACCTTCTGCGGGACCTGACGATTGGATGGCAGACCTGTCTAGGGTTTAGATGTCCTCCATCCCTGGTGAGGGGTTTTACCCACGCTAACTCGTAAGCGTGGCTCTTTGACAGATGTGGAGAGCGAGGCCCTAGAGGCTGGGCTCGTGTGCTCCAGCCACACGGCGGGAATACAGCAGTGCCCGGTTGTGGCTCCCACGAGTGAGGCCCTGGAGGCTGGGCCCATGTGCTTCAGCCACACGGCAGGAACACAGCAGTGTCTGGTTGTGGCCCCCCCATGCCTCCCGCCAACTTCTGCTGTTCCCAGAAGTGCAGCTGGCTGAGCACAGACACAGCAGGTGACCTGTGGTGATGCCAGGGCATCAGCGCTTGGCCTCCCCACACTGCTCCAGGGCAGACCTGGCCTCCTGGCTGCATCAGGAGGCACACGTGATGCATCCGTCATCTCGGGACCAGTTTTGAGACAAACATCCTATAGGGCAGGACCGTGAACTGGGTAGCTCTACAGAGTGTGAGGGGCTGGAGACCTCCTGCCCACTGGCCACGGATGCCACGGATGCCCTTGAGAGTTAGGAGAGGTGGAAGGGACCCCACTTCTCCCTGGGAGCTCCAACTTCTCTTGCATGTGACTTCAGTGCCCACTTCTGGGGACTGTGATCCCAAACTGCCAAATTCTCTAGCAGCTCTCTTAAAACCAAATGTGAAGGATTCTGGCTTTTTCTGTCCTCTGAGCCCAGCGTGGGGTATTTGAGATAGCTGTGCTGCCACCAGGACAGGGGCGTGCACCTTGTCTTCCCAGGAGAAAACACAGCAAAGCCTGTTTGCTCCCTAGTACCTCGTGCAAAGGTGCCATCTGTGGCCCTGCTCGCTGCTTCCTCTGAGGCAGACATAGTAGTGACTGTGTTCTGATACAAAGATGGCACTTGCCCGATGCTGCACTGCAGCACCAATGCAGAGGCCCTGGCAAATGTTCGCAGAAGCCCCCGTCCCAGGGCGTGGTCCCCCTTGGAGGAAAAGGGCACCTGTTTTGAAAACACTTGGTTATCATGGTGCCAGAAAGCACTAGTTTAGGCCCCACATGAAACAGTGGCCTTGCCCTCCCAGCATGGGAGAGCCCTCATCTTCCAGGTGGTGGGGGGAGCACAGCATTTGAAGCCCACTCCCCTTTGACCACTTGCTGTTGTCCAGACAGACATCACGCACGTGGGCCTTGCATTGGTTCCTGCTTACTTTGTCTCTGCTGACCCGGTTTCTGCTCCTTGAAGTCTCAGCCCCCTTCTTCCATGATTCCAAGGCATGTCCCTCTAAGGAGGCTTGACCCCACCCTGGAGGGCCTG
GTGTAACACTCGGGCCTTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCAGACCGCATGGAGGTGCTATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCGGAGCCACACTCTGCTGTCACCCAGCCCCAAACCCAAGAAGTCTGTGGTGGTGAGTAGCCCACCTGCCACCAGGGCAGGGCCTTCTTGCTAGCAGGTGGGGAGGCCGTGGGGGCCGCAGCACGAGGCTGGGATCTCACCATGCATTTGGCTTGGTACAGCCTGTGTCAGGGAGTCAGCATCGTTCGGGACACTGGGCCATACACCCGATGCTAGGTTCCTGCCATCCCAATGTCCCCCGACTTGGGGGTATGTAGGACCGGTCATTCCAGGGCCAGGGCATGAGAGCTCCAGAGATAGAGCTCTGGGAGCAGGACGGGCTGGAAAGAAGGCTCTTCAGAGGGCCTCAGGGTTGGGCTTTCCACACCGGGCGCAGTGGGTGGTGAGCAGTGGGCAGGGGGCCGCGCGCAGTGGGTGGTGGGAGGGGAGCAGCAGGGGAGGGAGGTGAGGCAGGGGTGCAGCGAAGGGGGTCTGGAGGTCACAGGGCAGTGGAGTTTGGCAGGCGCTGGGCAGAAGTCTTGTGACATGGCTGGGGTCATAAGGGGTTGGGGCTGACGCTGGCATGGTTCCCCTTCCTGGCCCGTGCCCACCCCCTGTGGAGAGACCTGGCCTTCCCAGTTTCCAGCTGCCGGTGGAGCCTCCGTGCCTACTGTTCCCTGTGCTGGAATGTTCCCCCAGATTTCCACACAGCCTGCTCCCTCACTTCAGGCGCCCTCTTCATGCCCTGCTGGCCCCCAGCCTGTTCCCCCGATATGCATTCTCCCCTACTGGTCACAGCCCCTGTTACCACCTCCACTGGCACCATCTTGTACGTTTATCTGCTTCCTGCTGTCCTGTTAGCGAGGCCGTGAGCTCACAGGGCAGCACCTGGGCCAAGCCCCCCACGTGACCCCCAGCAGCCCTGCCCTGTCTCTGTGTGAAGACACTGGAGCTGGCCCCAGGCCTCAGGTCCCTGTCCGGGTGTATGTGGCGGGGGCTGGGCTCGGGGCGGCTGCACAGGCACTCTGGGGCCGGCGTAGGGCCTGGCAGACGATGTCCAGGAACCGCTAATCTGTTGTCTTGTTTTTTTTTAGGTAAAGAAAAAAAAGTTCAAGCTGGACAAAGACAATGGGGTGACTCCTGGAGAGAAGATGCTCACAGTCCCCCATATCACGTGCGACCCCCCAGAAGAGCGGCGGCTGGACCACTTCTCTGTCGACGGCTATGACAGTTCTGGTGAGAACCCCTCAGGCAGTTGGGGGCCGCGGGGCCGGGAAGGTCACTGCCTTTTTTGGGAGCCCGAGCAAGCCAGTGAGTTTCTCCCTTGGGCTGTGGTCTCTGACAACGAGGTATGAACAGACAGAGGGTGGAGCTTCTAGAAACTTCTGTAAACCTTCCAGGTGCCTTCCCCTCAGAGTCTTCCCAAGGAGGAGCTGGCCACGCCTTCTGTTGCGAGAGGAAGCCTGGGCAGGTGATGGGGTGGGTCGGCTCCATCCGGCTGTACTGAGGGAAGGGTGTGTTCCTGATTCCAGCTGCCTGGCTTCCTCCCAGCCGAGCCCACGGGCTCTGGTTGGAAAGTGGCTAGGGTGACCTCTGGGCCTACTGGCAGGGACGCCAGAGGGAAGGGGTTTGGGGATGGGGCCCTGGAGGAGCAGCACCAGGCCCGGGTAAAACGTGGGGGGCCTGACGGGACAGGCCCTTCTCATGCAGCCCAGGGGCCCCGAGTCTGTGCGTGATGGTGTGGCTCGGATCTGCGTCCCTCCTCTCACCCCTGCAGCGGGGGCTGGGATGAAGCTACCTTCTGCGGGACCTGACGATTGGATGGCAGACCTGTCTAGGGTTTAGATGTCCTCCATCCCTGGTGAGGGGTTTTACCCACGCTAACTCGTAAGCGTGGCTCTTTGACAGATGTGGAGAGCGAGGCCCTAGAGGCTGGGCTCGTGTGCTCCAGCCACACGGCGGGAATACAGCAGTGCCCGGTTGTGGCTCCCACGAGTGAGGCCCTGGAGGCTGGGCCCATGTGCTTCAGCCACACGGCAGGAACACAGCAGTGTCTGGTTGTGGCCCCCCCATGCCTCCCGCCAACTTCTGCTGTTCCCAGAAGTGCAGCTGGCTGAGCACAGACACAGCAGGTGACCTGTGGTGATGCCAGGGCATCAGCGCTTGGCCTCCCCACACTGCTCCAGGGCAGACCTGGCCTCCTGGCTGCATCAGGAGGCACACGTGATGCATCCGTCATCTCGGGACCAGTTTTGAGACAAACATCCTATAGGGCAGGACCGTGAACTGGGTAGCTCTACAGAGTGTGAGGGGCTGGAGACCTCCTGCCCACTGGCCACGGATGCCACGGATGCCCTTGAGAGTTAGGAGAGGTGGAAGGGACCCCACTTCTCCCTGGGAGCTCCAACTTCTCTTGCATGTGACTTCAGTGCCCACTTCTGGGGACTGTGATCCCAAACTGCCAAATTCTCTAGCAGCTCTCTTAAAACCAAATGTGAAGGATTCTGGCTTTTTCTGTCCTCTGAGCCCAGCGTGGGGTATTTGAGATAGCTGTGCTGCCACCAGGACAGGGGCGTGCACCTTGTCTTCCCAGGAGAAAACACAGCAAAGCCTGTTTGCTCCCTAGTACCTCGTGCAAAGGTGCCATCTGTGGCCCTGCTCGCTGCTTCCTCTGAGGCAGACATAGTAGTGACTGTGTTCTGATACAAAGATGGCACTTGCCCGATGCTGCACTGCAGCACCAATGCAGAGGCCCTGGCAAATGTTCGCAGAAGCCCCCGTCCCAGGGCGTGGTCCCCCTTGGAGGAAAAGGGCACCTGTTTTGAAAACACTTGGTTATCATGGTGCCAGAAAGCACTAGTTTAGGCCCCACATGAAACAGTGGCCTTGCCCTCCCAGCATGGGAGAGCCCTCATCTTCCAGGTGGTGGGGGGAGCACAGCATTTGAAGCCCACTCCCCTTTGACCACTTGCTGTTGTCCAGACAGACATCACGCACGTGGGCCTTGCATTGGTTCCTGCTTACTTTGTCTCTGCTGACCCGGTTTCTGCTCCTTGAAGTCTCAGCCCCCTTCTTCCATGATTCCAAGGCATGTCCCTCTAAGGAGGCTTGACCCCACCCTGGAGGGCCT
benign
170,826
Chromosome 11, position 2588702, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
benign
GTGTAACACTCGGGCCTTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCAGACCGCATGGAGGTGCTATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCGGAGCCACACTCTGCTGTCACCCAGCCCCAAACCCAAGAAGTCTGTGGTGGTGAGTAGCCCACCTGCCACCAGGGCAGGGCCTTCTTGCTAGCAGGTGGGGAGGCCGTGGGGGCCGCAGCACGAGGCTGGGATCTCACCATGCATTTGGCTTGGTACAGCCTGTGTCAGGGAGTCAGCATCGTTCGGGACACTGGGCCATACACCCGATGCTAGGTTCCTGCCATCCCAATGTCCCCCGACTTGGGGGTATGTAGGACCGGTCATTCCAGGGCCAGGGCATGAGAGCTCCAGAGATAGAGCTCTGGGAGCAGGACGGGCTGGAAAGAAGGCTCTTCAGAGGGCCTCAGGGTTGGGCTTTCCACACCGGGCGCAGTGGGTGGTGAGCAGTGGGCAGGGGGCCGCGCGCAGTGGGTGGTGGGAGGGGAGCAGCAGGGGAGGGAGGTGAGGCAGGGGTGCAGCGAAGGGGGTCTGGAGGTCACAGGGCAGTGGAGTTTGGCAGGCGCTGGGCAGAAGTCTTGTGACATGGCTGGGGTCATAAGGGGTTGGGGCTGACGCTGGCATGGTTCCCCTTCCTGGCCCGTGCCCACCCCCTGTGGAGAGACCTGGCCTTCCCAGTTTCCAGCTGCCGGTGGAGCCTCCGTGCCTACTGTTCCCTGTGCTGGAATGTTCCCCCAGATTTCCACACAGCCTGCTCCCTCACTTCAGGCGCCCTCTTCATGCCCTGCTGGCCCCCAGCCTGTTCCCCCGATATGCATTCTCCCCTACTGGTCACAGCCCCTGTTACCACCTCCACTGGCACCATCTTGTACGTTTATCTGCTTCCTGCTGTCCTGTTAGCGAGGCCGTGAGCTCACAGGGCAGCACCTGGGCCAAGCCCCCCACGTGACCCCCAGCAGCCCTGCCCTGTCTCTGTGTGAAGACACTGGAGCTGGCCCCAGGCCTCAGGTCCCTGTCCGGGTGTATGTGGCGGGGGCTGGGCTCGGGGCGGCTGCACAGGCACTCTGGGGCCGGCGTAGGGCCTGGCAGACGATGTCCAGGAACCGCTAATCTGTTGTCTTGTTTTTTTTAGGTAAAGAAAAAAAAGTTCAAGCTGGACAAAGACAATGGGGTGACTCCTGGAGAGAAGATGCTCACAGTCCCCCATATCACGTGCGACCCCCCAGAAGAGCGGCGGCTGGACCACTTCTCTGTCGACGGCTATGACAGTTCTGGTGAGAACCCCTCAGGCAGTTGGGGGCCGCGGGGCCGGGAAGGTCACTGCCTTTTTTGGGAGCCCGAGCAAGCCAGTGAGTTTCTCCCTTGGGCTGTGGTCTCTGACAACGAGGTATGAACAGACAGAGGGTGGAGCTTCTAGAAACTTCTGTAAACCTTCCAGGTGCCTTCCCCTCAGAGTCTTCCCAAGGAGGAGCTGGCCACGCCTTCTGTTGCGAGAGGAAGCCTGGGCAGGTGATGGGGTGGGTCGGCTCCATCCGGCTGTACTGAGGGAAGGGTGTGTTCCTGATTCCAGCTGCCTGGCTTCCTCCCAGCCGAGCCCACGGGCTCTGGTTGGAAAGTGGCTAGGGTGACCTCTGGGCCTACTGGCAGGGACGCCAGAGGGAAGGGGTTTGGGGATGGGGCCCTGGAGGAGCAGCACCAGGCCCGGGTAAAACGTGGGGGGCCTGACGGGACAGGCCCTTCTCATGCAGCCCAGGGGCCCCGAGTCTGTGCGTGATGGTGTGGCTCGGATCTGCGTCCCTCCTCTCACCCCTGCAGCGGGGGCTGGGATGAAGCTACCTTCTGCGGGACCTGACGATTGGATGGCAGACCTGTCTAGGGTTTAGATGTCCTCCATCCCTGGTGAGGGGTTTTACCCACGCTAACTCGTAAGCGTGGCTCTTTGACAGATGTGGAGAGCGAGGCCCTAGAGGCTGGGCTCGTGTGCTCCAGCCACACGGCGGGAATACAGCAGTGCCCGGTTGTGGCTCCCACGAGTGAGGCCCTGGAGGCTGGGCCCATGTGCTTCAGCCACACGGCAGGAACACAGCAGTGTCTGGTTGTGGCCCCCCCATGCCTCCCGCCAACTTCTGCTGTTCCCAGAAGTGCAGCTGGCTGAGCACAGACACAGCAGGTGACCTGTGGTGATGCCAGGGCATCAGCGCTTGGCCTCCCCACACTGCTCCAGGGCAGACCTGGCCTCCTGGCTGCATCAGGAGGCACACGTGATGCATCCGTCATCTCGGGACCAGTTTTGAGACAAACATCCTATAGGGCAGGACCGTGAACTGGGTAGCTCTACAGAGTGTGAGGGGCTGGAGACCTCCTGCCCACTGGCCACGGATGCCACGGATGCCCTTGAGAGTTAGGAGAGGTGGAAGGGACCCCACTTCTCCCTGGGAGCTCCAACTTCTCTTGCATGTGACTTCAGTGCCCACTTCTGGGGACTGTGATCCCAAACTGCCAAATTCTCTAGCAGCTCTCTTAAAACCAAATGTGAAGGATTCTGGCTTTTTCTGTCCTCTGAGCCCAGCGTGGGGTATTTGAGATAGCTGTGCTGCCACCAGGACAGGGGCGTGCACCTTGTCTTCCCAGGAGAAAACACAGCAAAGCCTGTTTGCTCCCTAGTACCTCGTGCAAAGGTGCCATCTGTGGCCCTGCTCGCTGCTTCCTCTGAGGCAGACATAGTAGTGACTGTGTTCTGATACAAAGATGGCACTTGCCCGATGCTGCACTGCAGCACCAATGCAGAGGCCCTGGCAAATGTTCGCAGAAGCCCCCGTCCCAGGGCGTGGTCCCCCTTGGAGGAAAAGGGCACCTGTTTTGAAAACACTTGGTTATCATGGTGCCAGAAAGCACTAGTTTAGGCCCCACATGAAACAGTGGCCTTGCCCTCCCAGCATGGGAGAGCCCTCATCTTCCAGGTGGTGGGGGGAGCACAGCATTTGAAGCCCACTCCCCTTTGACCACTTGCTGTTGTCCAGACAGACATCACGCACGTGGGCCTTGCATTGGTTCCTGCTTACTTTGTCTCTGCTGACCCGGTTTCTGCTCCTTGAAGTCTCAGCCCCCTTCTTCCATGATTCCAAGGCATGTCCCTCTAAGGAGGCTTGACCCCACCCTGGAGGGCCTG
GTGTAACACTCGGGCCTTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCAGACCGCATGGAGGTGCTATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCGGAGCCACACTCTGCTGTCACCCAGCCCCAAACCCAAGAAGTCTGTGGTGGTGAGTAGCCCACCTGCCACCAGGGCAGGGCCTTCTTGCTAGCAGGTGGGGAGGCCGTGGGGGCCGCAGCACGAGGCTGGGATCTCACCATGCATTTGGCTTGGTACAGCCTGTGTCAGGGAGTCAGCATCGTTCGGGACACTGGGCCATACACCCGATGCTAGGTTCCTGCCATCCCAATGTCCCCCGACTTGGGGGTATGTAGGACCGGTCATTCCAGGGCCAGGGCATGAGAGCTCCAGAGATAGAGCTCTGGGAGCAGGACGGGCTGGAAAGAAGGCTCTTCAGAGGGCCTCAGGGTTGGGCTTTCCACACCGGGCGCAGTGGGTGGTGAGCAGTGGGCAGGGGGCCGCGCGCAGTGGGTGGTGGGAGGGGAGCAGCAGGGGAGGGAGGTGAGGCAGGGGTGCAGCGAAGGGGGTCTGGAGGTCACAGGGCAGTGGAGTTTGGCAGGCGCTGGGCAGAAGTCTTGTGACATGGCTGGGGTCATAAGGGGTTGGGGCTGACGCTGGCATGGTTCCCCTTCCTGGCCCGTGCCCACCCCCTGTGGAGAGACCTGGCCTTCCCAGTTTCCAGCTGCCGGTGGAGCCTCCGTGCCTACTGTTCCCTGTGCTGGAATGTTCCCCCAGATTTCCACACAGCCTGCTCCCTCACTTCAGGCGCCCTCTTCATGCCCTGCTGGCCCCCAGCCTGTTCCCCCGATATGCATTCTCCCCTACTGGTCACAGCCCCTGTTACCACCTCCACTGGCACCATCTTGTACGTTTATCTGCTTCCTGCTGTCCTGTTAGCGAGGCCGTGAGCTCACAGGGCAGCACCTGGGCCAAGCCCCCCACGTGACCCCCAGCAGCCCTGCCCTGTCTCTGTGTGAAGACACTGGAGCTGGCCCCAGGCCTCAGGTCCCTGTCCGGGTGTATGTGGCGGGGGCTGGGCTCGGGGCGGCTGCACAGGCACTCTGGGGCCGGCGTAGGGCCTGGCAGACGATGTCCAGGAACCGCTAATCTGTTGTCTTGTTTTTTTAGGTAAAGAAAAAAAAGTTCAAGCTGGACAAAGACAATGGGGTGACTCCTGGAGAGAAGATGCTCACAGTCCCCCATATCACGTGCGACCCCCCAGAAGAGCGGCGGCTGGACCACTTCTCTGTCGACGGCTATGACAGTTCTGGTGAGAACCCCTCAGGCAGTTGGGGGCCGCGGGGCCGGGAAGGTCACTGCCTTTTTTGGGAGCCCGAGCAAGCCAGTGAGTTTCTCCCTTGGGCTGTGGTCTCTGACAACGAGGTATGAACAGACAGAGGGTGGAGCTTCTAGAAACTTCTGTAAACCTTCCAGGTGCCTTCCCCTCAGAGTCTTCCCAAGGAGGAGCTGGCCACGCCTTCTGTTGCGAGAGGAAGCCTGGGCAGGTGATGGGGTGGGTCGGCTCCATCCGGCTGTACTGAGGGAAGGGTGTGTTCCTGATTCCAGCTGCCTGGCTTCCTCCCAGCCGAGCCCACGGGCTCTGGTTGGAAAGTGGCTAGGGTGACCTCTGGGCCTACTGGCAGGGACGCCAGAGGGAAGGGGTTTGGGGATGGGGCCCTGGAGGAGCAGCACCAGGCCCGGGTAAAACGTGGGGGGCCTGACGGGACAGGCCCTTCTCATGCAGCCCAGGGGCCCCGAGTCTGTGCGTGATGGTGTGGCTCGGATCTGCGTCCCTCCTCTCACCCCTGCAGCGGGGGCTGGGATGAAGCTACCTTCTGCGGGACCTGACGATTGGATGGCAGACCTGTCTAGGGTTTAGATGTCCTCCATCCCTGGTGAGGGGTTTTACCCACGCTAACTCGTAAGCGTGGCTCTTTGACAGATGTGGAGAGCGAGGCCCTAGAGGCTGGGCTCGTGTGCTCCAGCCACACGGCGGGAATACAGCAGTGCCCGGTTGTGGCTCCCACGAGTGAGGCCCTGGAGGCTGGGCCCATGTGCTTCAGCCACACGGCAGGAACACAGCAGTGTCTGGTTGTGGCCCCCCCATGCCTCCCGCCAACTTCTGCTGTTCCCAGAAGTGCAGCTGGCTGAGCACAGACACAGCAGGTGACCTGTGGTGATGCCAGGGCATCAGCGCTTGGCCTCCCCACACTGCTCCAGGGCAGACCTGGCCTCCTGGCTGCATCAGGAGGCACACGTGATGCATCCGTCATCTCGGGACCAGTTTTGAGACAAACATCCTATAGGGCAGGACCGTGAACTGGGTAGCTCTACAGAGTGTGAGGGGCTGGAGACCTCCTGCCCACTGGCCACGGATGCCACGGATGCCCTTGAGAGTTAGGAGAGGTGGAAGGGACCCCACTTCTCCCTGGGAGCTCCAACTTCTCTTGCATGTGACTTCAGTGCCCACTTCTGGGGACTGTGATCCCAAACTGCCAAATTCTCTAGCAGCTCTCTTAAAACCAAATGTGAAGGATTCTGGCTTTTTCTGTCCTCTGAGCCCAGCGTGGGGTATTTGAGATAGCTGTGCTGCCACCAGGACAGGGGCGTGCACCTTGTCTTCCCAGGAGAAAACACAGCAAAGCCTGTTTGCTCCCTAGTACCTCGTGCAAAGGTGCCATCTGTGGCCCTGCTCGCTGCTTCCTCTGAGGCAGACATAGTAGTGACTGTGTTCTGATACAAAGATGGCACTTGCCCGATGCTGCACTGCAGCACCAATGCAGAGGCCCTGGCAAATGTTCGCAGAAGCCCCCGTCCCAGGGCGTGGTCCCCCTTGGAGGAAAAGGGCACCTGTTTTGAAAACACTTGGTTATCATGGTGCCAGAAAGCACTAGTTTAGGCCCCACATGAAACAGTGGCCTTGCCCTCCCAGCATGGGAGAGCCCTCATCTTCCAGGTGGTGGGGGGAGCACAGCATTTGAAGCCCACTCCCCTTTGACCACTTGCTGTTGTCCAGACAGACATCACGCACGTGGGCCTTGCATTGGTTCCTGCTTACTTTGTCTCTGCTGACCCGGTTTCTGCTCCTTGAAGTCTCAGCCCCCTTCTTCCATGATTCCAAGGCATGTCCCTCTAAGGAGGCTTGACCCCACCCTGGAGGGCCTGN
benign
170,828
Considering the variant on chromosome 11, location 2588718, involving gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
pathogenic; ['Atrial_fibrillation,_familial,_3', 'Beckwith-Wiedemann_syndrome', 'Cardiovascular_phenotype', 'Ear_malformation', 'Jervell_and_Lange-Nielsen_syndrome', 'Jervell_and_Lange-Nielsen_syndrome_1', 'Long_QT_syndrome', 'Long_QT_syndrome_1', 'Short_QT_syndrome_type_2']
TTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCAGACCGCATGGAGGTGCTATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCGGAGCCACACTCTGCTGTCACCCAGCCCCAAACCCAAGAAGTCTGTGGTGGTGAGTAGCCCACCTGCCACCAGGGCAGGGCCTTCTTGCTAGCAGGTGGGGAGGCCGTGGGGGCCGCAGCACGAGGCTGGGATCTCACCATGCATTTGGCTTGGTACAGCCTGTGTCAGGGAGTCAGCATCGTTCGGGACACTGGGCCATACACCCGATGCTAGGTTCCTGCCATCCCAATGTCCCCCGACTTGGGGGTATGTAGGACCGGTCATTCCAGGGCCAGGGCATGAGAGCTCCAGAGATAGAGCTCTGGGAGCAGGACGGGCTGGAAAGAAGGCTCTTCAGAGGGCCTCAGGGTTGGGCTTTCCACACCGGGCGCAGTGGGTGGTGAGCAGTGGGCAGGGGGCCGCGCGCAGTGGGTGGTGGGAGGGGAGCAGCAGGGGAGGGAGGTGAGGCAGGGGTGCAGCGAAGGGGGTCTGGAGGTCACAGGGCAGTGGAGTTTGGCAGGCGCTGGGCAGAAGTCTTGTGACATGGCTGGGGTCATAAGGGGTTGGGGCTGACGCTGGCATGGTTCCCCTTCCTGGCCCGTGCCCACCCCCTGTGGAGAGACCTGGCCTTCCCAGTTTCCAGCTGCCGGTGGAGCCTCCGTGCCTACTGTTCCCTGTGCTGGAATGTTCCCCCAGATTTCCACACAGCCTGCTCCCTCACTTCAGGCGCCCTCTTCATGCCCTGCTGGCCCCCAGCCTGTTCCCCCGATATGCATTCTCCCCTACTGGTCACAGCCCCTGTTACCACCTCCACTGGCACCATCTTGTACGTTTATCTGCTTCCTGCTGTCCTGTTAGCGAGGCCGTGAGCTCACAGGGCAGCACCTGGGCCAAGCCCCCCACGTGACCCCCAGCAGCCCTGCCCTGTCTCTGTGTGAAGACACTGGAGCTGGCCCCAGGCCTCAGGTCCCTGTCCGGGTGTATGTGGCGGGGGCTGGGCTCGGGGCGGCTGCACAGGCACTCTGGGGCCGGCGTAGGGCCTGGCAGACGATGTCCAGGAACCGCTAATCTGTTGTCTTGTTTTTTTTAGGTAAAGAAAAAAAAGTTCAAGCTGGACAAAGACAATGGGGTGACTCCTGGAGAGAAGATGCTCACAGTCCCCCATATCACGTGCGACCCCCCAGAAGAGCGGCGGCTGGACCACTTCTCTGTCGACGGCTATGACAGTTCTGGTGAGAACCCCTCAGGCAGTTGGGGGCCGCGGGGCCGGGAAGGTCACTGCCTTTTTTGGGAGCCCGAGCAAGCCAGTGAGTTTCTCCCTTGGGCTGTGGTCTCTGACAACGAGGTATGAACAGACAGAGGGTGGAGCTTCTAGAAACTTCTGTAAACCTTCCAGGTGCCTTCCCCTCAGAGTCTTCCCAAGGAGGAGCTGGCCACGCCTTCTGTTGCGAGAGGAAGCCTGGGCAGGTGATGGGGTGGGTCGGCTCCATCCGGCTGTACTGAGGGAAGGGTGTGTTCCTGATTCCAGCTGCCTGGCTTCCTCCCAGCCGAGCCCACGGGCTCTGGTTGGAAAGTGGCTAGGGTGACCTCTGGGCCTACTGGCAGGGACGCCAGAGGGAAGGGGTTTGGGGATGGGGCCCTGGAGGAGCAGCACCAGGCCCGGGTAAAACGTGGGGGGCCTGACGGGACAGGCCCTTCTCATGCAGCCCAGGGGCCCCGAGTCTGTGCGTGATGGTGTGGCTCGGATCTGCGTCCCTCCTCTCACCCCTGCAGCGGGGGCTGGGATGAAGCTACCTTCTGCGGGACCTGACGATTGGATGGCAGACCTGTCTAGGGTTTAGATGTCCTCCATCCCTGGTGAGGGGTTTTACCCACGCTAACTCGTAAGCGTGGCTCTTTGACAGATGTGGAGAGCGAGGCCCTAGAGGCTGGGCTCGTGTGCTCCAGCCACACGGCGGGAATACAGCAGTGCCCGGTTGTGGCTCCCACGAGTGAGGCCCTGGAGGCTGGGCCCATGTGCTTCAGCCACACGGCAGGAACACAGCAGTGTCTGGTTGTGGCCCCCCCATGCCTCCCGCCAACTTCTGCTGTTCCCAGAAGTGCAGCTGGCTGAGCACAGACACAGCAGGTGACCTGTGGTGATGCCAGGGCATCAGCGCTTGGCCTCCCCACACTGCTCCAGGGCAGACCTGGCCTCCTGGCTGCATCAGGAGGCACACGTGATGCATCCGTCATCTCGGGACCAGTTTTGAGACAAACATCCTATAGGGCAGGACCGTGAACTGGGTAGCTCTACAGAGTGTGAGGGGCTGGAGACCTCCTGCCCACTGGCCACGGATGCCACGGATGCCCTTGAGAGTTAGGAGAGGTGGAAGGGACCCCACTTCTCCCTGGGAGCTCCAACTTCTCTTGCATGTGACTTCAGTGCCCACTTCTGGGGACTGTGATCCCAAACTGCCAAATTCTCTAGCAGCTCTCTTAAAACCAAATGTGAAGGATTCTGGCTTTTTCTGTCCTCTGAGCCCAGCGTGGGGTATTTGAGATAGCTGTGCTGCCACCAGGACAGGGGCGTGCACCTTGTCTTCCCAGGAGAAAACACAGCAAAGCCTGTTTGCTCCCTAGTACCTCGTGCAAAGGTGCCATCTGTGGCCCTGCTCGCTGCTTCCTCTGAGGCAGACATAGTAGTGACTGTGTTCTGATACAAAGATGGCACTTGCCCGATGCTGCACTGCAGCACCAATGCAGAGGCCCTGGCAAATGTTCGCAGAAGCCCCCGTCCCAGGGCGTGGTCCCCCTTGGAGGAAAAGGGCACCTGTTTTGAAAACACTTGGTTATCATGGTGCCAGAAAGCACTAGTTTAGGCCCCACATGAAACAGTGGCCTTGCCCTCCCAGCATGGGAGAGCCCTCATCTTCCAGGTGGTGGGGGGAGCACAGCATTTGAAGCCCACTCCCCTTTGACCACTTGCTGTTGTCCAGACAGACATCACGCACGTGGGCCTTGCATTGGTTCCTGCTTACTTTGTCTCTGCTGACCCGGTTTCTGCTCCTTGAAGTCTCAGCCCCCTTCTTCCATGATTCCAAGGCATGTCCCTCTAAGGAGGCTTGACCCCACCCTGGAGGGCCTGCTCCCCACTCTCTGCC
TTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCAGACCGCATGGAGGTGCTATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCGGAGCCACACTCTGCTGTCACCCAGCCCCAAACCCAAGAAGTCTGTGGTGGTGAGTAGCCCACCTGCCACCAGGGCAGGGCCTTCTTGCTAGCAGGTGGGGAGGCCGTGGGGGCCGCAGCACGAGGCTGGGATCTCACCATGCATTTGGCTTGGTACAGCCTGTGTCAGGGAGTCAGCATCGTTCGGGACACTGGGCCATACACCCGATGCTAGGTTCCTGCCATCCCAATGTCCCCCGACTTGGGGGTATGTAGGACCGGTCATTCCAGGGCCAGGGCATGAGAGCTCCAGAGATAGAGCTCTGGGAGCAGGACGGGCTGGAAAGAAGGCTCTTCAGAGGGCCTCAGGGTTGGGCTTTCCACACCGGGCGCAGTGGGTGGTGAGCAGTGGGCAGGGGGCCGCGCGCAGTGGGTGGTGGGAGGGGAGCAGCAGGGGAGGGAGGTGAGGCAGGGGTGCAGCGAAGGGGGTCTGGAGGTCACAGGGCAGTGGAGTTTGGCAGGCGCTGGGCAGAAGTCTTGTGACATGGCTGGGGTCATAAGGGGTTGGGGCTGACGCTGGCATGGTTCCCCTTCCTGGCCCGTGCCCACCCCCTGTGGAGAGACCTGGCCTTCCCAGTTTCCAGCTGCCGGTGGAGCCTCCGTGCCTACTGTTCCCTGTGCTGGAATGTTCCCCCAGATTTCCACACAGCCTGCTCCCTCACTTCAGGCGCCCTCTTCATGCCCTGCTGGCCCCCAGCCTGTTCCCCCGATATGCATTCTCCCCTACTGGTCACAGCCCCTGTTACCACCTCCACTGGCACCATCTTGTACGTTTATCTGCTTCCTGCTGTCCTGTTAGCGAGGCCGTGAGCTCACAGGGCAGCACCTGGGCCAAGCCCCCCACGTGACCCCCAGCAGCCCTGCCCTGTCTCTGTGTGAAGACACTGGAGCTGGCCCCAGGCCTCAGGTCCCTGTCCGGGTGTATGTGGCGGGGGCTGGGCTCGGGGCGGCTGCACAGGCACTCTGGGGCCGGCGTAGGGCCTGGCAGACGATGTCCAGGAACCGCTAATCTGTTGTCTTGTTTTTTTTAGGTAAAGAAAAAAAAAGTTCAAGCTGGACAAAGACAATGGGGTGACTCCTGGAGAGAAGATGCTCACAGTCCCCCATATCACGTGCGACCCCCCAGAAGAGCGGCGGCTGGACCACTTCTCTGTCGACGGCTATGACAGTTCTGGTGAGAACCCCTCAGGCAGTTGGGGGCCGCGGGGCCGGGAAGGTCACTGCCTTTTTTGGGAGCCCGAGCAAGCCAGTGAGTTTCTCCCTTGGGCTGTGGTCTCTGACAACGAGGTATGAACAGACAGAGGGTGGAGCTTCTAGAAACTTCTGTAAACCTTCCAGGTGCCTTCCCCTCAGAGTCTTCCCAAGGAGGAGCTGGCCACGCCTTCTGTTGCGAGAGGAAGCCTGGGCAGGTGATGGGGTGGGTCGGCTCCATCCGGCTGTACTGAGGGAAGGGTGTGTTCCTGATTCCAGCTGCCTGGCTTCCTCCCAGCCGAGCCCACGGGCTCTGGTTGGAAAGTGGCTAGGGTGACCTCTGGGCCTACTGGCAGGGACGCCAGAGGGAAGGGGTTTGGGGATGGGGCCCTGGAGGAGCAGCACCAGGCCCGGGTAAAACGTGGGGGGCCTGACGGGACAGGCCCTTCTCATGCAGCCCAGGGGCCCCGAGTCTGTGCGTGATGGTGTGGCTCGGATCTGCGTCCCTCCTCTCACCCCTGCAGCGGGGGCTGGGATGAAGCTACCTTCTGCGGGACCTGACGATTGGATGGCAGACCTGTCTAGGGTTTAGATGTCCTCCATCCCTGGTGAGGGGTTTTACCCACGCTAACTCGTAAGCGTGGCTCTTTGACAGATGTGGAGAGCGAGGCCCTAGAGGCTGGGCTCGTGTGCTCCAGCCACACGGCGGGAATACAGCAGTGCCCGGTTGTGGCTCCCACGAGTGAGGCCCTGGAGGCTGGGCCCATGTGCTTCAGCCACACGGCAGGAACACAGCAGTGTCTGGTTGTGGCCCCCCCATGCCTCCCGCCAACTTCTGCTGTTCCCAGAAGTGCAGCTGGCTGAGCACAGACACAGCAGGTGACCTGTGGTGATGCCAGGGCATCAGCGCTTGGCCTCCCCACACTGCTCCAGGGCAGACCTGGCCTCCTGGCTGCATCAGGAGGCACACGTGATGCATCCGTCATCTCGGGACCAGTTTTGAGACAAACATCCTATAGGGCAGGACCGTGAACTGGGTAGCTCTACAGAGTGTGAGGGGCTGGAGACCTCCTGCCCACTGGCCACGGATGCCACGGATGCCCTTGAGAGTTAGGAGAGGTGGAAGGGACCCCACTTCTCCCTGGGAGCTCCAACTTCTCTTGCATGTGACTTCAGTGCCCACTTCTGGGGACTGTGATCCCAAACTGCCAAATTCTCTAGCAGCTCTCTTAAAACCAAATGTGAAGGATTCTGGCTTTTTCTGTCCTCTGAGCCCAGCGTGGGGTATTTGAGATAGCTGTGCTGCCACCAGGACAGGGGCGTGCACCTTGTCTTCCCAGGAGAAAACACAGCAAAGCCTGTTTGCTCCCTAGTACCTCGTGCAAAGGTGCCATCTGTGGCCCTGCTCGCTGCTTCCTCTGAGGCAGACATAGTAGTGACTGTGTTCTGATACAAAGATGGCACTTGCCCGATGCTGCACTGCAGCACCAATGCAGAGGCCCTGGCAAATGTTCGCAGAAGCCCCCGTCCCAGGGCGTGGTCCCCCTTGGAGGAAAAGGGCACCTGTTTTGAAAACACTTGGTTATCATGGTGCCAGAAAGCACTAGTTTAGGCCCCACATGAAACAGTGGCCTTGCCCTCCCAGCATGGGAGAGCCCTCATCTTCCAGGTGGTGGGGGGAGCACAGCATTTGAAGCCCACTCCCCTTTGACCACTTGCTGTTGTCCAGACAGACATCACGCACGTGGGCCTTGCATTGGTTCCTGCTTACTTTGTCTCTGCTGACCCGGTTTCTGCTCCTTGAAGTCTCAGCCCCCTTCTTCCATGATTCCAAGGCATGTCCCTCTAAGGAGGCTTGACCCCACCCTGGAGGGCCTGCTCCCCACTCTCTGC
pathogenic
170,833
Is chromosome 11, position 2588718, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_1']
TTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCAGACCGCATGGAGGTGCTATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCGGAGCCACACTCTGCTGTCACCCAGCCCCAAACCCAAGAAGTCTGTGGTGGTGAGTAGCCCACCTGCCACCAGGGCAGGGCCTTCTTGCTAGCAGGTGGGGAGGCCGTGGGGGCCGCAGCACGAGGCTGGGATCTCACCATGCATTTGGCTTGGTACAGCCTGTGTCAGGGAGTCAGCATCGTTCGGGACACTGGGCCATACACCCGATGCTAGGTTCCTGCCATCCCAATGTCCCCCGACTTGGGGGTATGTAGGACCGGTCATTCCAGGGCCAGGGCATGAGAGCTCCAGAGATAGAGCTCTGGGAGCAGGACGGGCTGGAAAGAAGGCTCTTCAGAGGGCCTCAGGGTTGGGCTTTCCACACCGGGCGCAGTGGGTGGTGAGCAGTGGGCAGGGGGCCGCGCGCAGTGGGTGGTGGGAGGGGAGCAGCAGGGGAGGGAGGTGAGGCAGGGGTGCAGCGAAGGGGGTCTGGAGGTCACAGGGCAGTGGAGTTTGGCAGGCGCTGGGCAGAAGTCTTGTGACATGGCTGGGGTCATAAGGGGTTGGGGCTGACGCTGGCATGGTTCCCCTTCCTGGCCCGTGCCCACCCCCTGTGGAGAGACCTGGCCTTCCCAGTTTCCAGCTGCCGGTGGAGCCTCCGTGCCTACTGTTCCCTGTGCTGGAATGTTCCCCCAGATTTCCACACAGCCTGCTCCCTCACTTCAGGCGCCCTCTTCATGCCCTGCTGGCCCCCAGCCTGTTCCCCCGATATGCATTCTCCCCTACTGGTCACAGCCCCTGTTACCACCTCCACTGGCACCATCTTGTACGTTTATCTGCTTCCTGCTGTCCTGTTAGCGAGGCCGTGAGCTCACAGGGCAGCACCTGGGCCAAGCCCCCCACGTGACCCCCAGCAGCCCTGCCCTGTCTCTGTGTGAAGACACTGGAGCTGGCCCCAGGCCTCAGGTCCCTGTCCGGGTGTATGTGGCGGGGGCTGGGCTCGGGGCGGCTGCACAGGCACTCTGGGGCCGGCGTAGGGCCTGGCAGACGATGTCCAGGAACCGCTAATCTGTTGTCTTGTTTTTTTTAGGTAAAGAAAAAAAAGTTCAAGCTGGACAAAGACAATGGGGTGACTCCTGGAGAGAAGATGCTCACAGTCCCCCATATCACGTGCGACCCCCCAGAAGAGCGGCGGCTGGACCACTTCTCTGTCGACGGCTATGACAGTTCTGGTGAGAACCCCTCAGGCAGTTGGGGGCCGCGGGGCCGGGAAGGTCACTGCCTTTTTTGGGAGCCCGAGCAAGCCAGTGAGTTTCTCCCTTGGGCTGTGGTCTCTGACAACGAGGTATGAACAGACAGAGGGTGGAGCTTCTAGAAACTTCTGTAAACCTTCCAGGTGCCTTCCCCTCAGAGTCTTCCCAAGGAGGAGCTGGCCACGCCTTCTGTTGCGAGAGGAAGCCTGGGCAGGTGATGGGGTGGGTCGGCTCCATCCGGCTGTACTGAGGGAAGGGTGTGTTCCTGATTCCAGCTGCCTGGCTTCCTCCCAGCCGAGCCCACGGGCTCTGGTTGGAAAGTGGCTAGGGTGACCTCTGGGCCTACTGGCAGGGACGCCAGAGGGAAGGGGTTTGGGGATGGGGCCCTGGAGGAGCAGCACCAGGCCCGGGTAAAACGTGGGGGGCCTGACGGGACAGGCCCTTCTCATGCAGCCCAGGGGCCCCGAGTCTGTGCGTGATGGTGTGGCTCGGATCTGCGTCCCTCCTCTCACCCCTGCAGCGGGGGCTGGGATGAAGCTACCTTCTGCGGGACCTGACGATTGGATGGCAGACCTGTCTAGGGTTTAGATGTCCTCCATCCCTGGTGAGGGGTTTTACCCACGCTAACTCGTAAGCGTGGCTCTTTGACAGATGTGGAGAGCGAGGCCCTAGAGGCTGGGCTCGTGTGCTCCAGCCACACGGCGGGAATACAGCAGTGCCCGGTTGTGGCTCCCACGAGTGAGGCCCTGGAGGCTGGGCCCATGTGCTTCAGCCACACGGCAGGAACACAGCAGTGTCTGGTTGTGGCCCCCCCATGCCTCCCGCCAACTTCTGCTGTTCCCAGAAGTGCAGCTGGCTGAGCACAGACACAGCAGGTGACCTGTGGTGATGCCAGGGCATCAGCGCTTGGCCTCCCCACACTGCTCCAGGGCAGACCTGGCCTCCTGGCTGCATCAGGAGGCACACGTGATGCATCCGTCATCTCGGGACCAGTTTTGAGACAAACATCCTATAGGGCAGGACCGTGAACTGGGTAGCTCTACAGAGTGTGAGGGGCTGGAGACCTCCTGCCCACTGGCCACGGATGCCACGGATGCCCTTGAGAGTTAGGAGAGGTGGAAGGGACCCCACTTCTCCCTGGGAGCTCCAACTTCTCTTGCATGTGACTTCAGTGCCCACTTCTGGGGACTGTGATCCCAAACTGCCAAATTCTCTAGCAGCTCTCTTAAAACCAAATGTGAAGGATTCTGGCTTTTTCTGTCCTCTGAGCCCAGCGTGGGGTATTTGAGATAGCTGTGCTGCCACCAGGACAGGGGCGTGCACCTTGTCTTCCCAGGAGAAAACACAGCAAAGCCTGTTTGCTCCCTAGTACCTCGTGCAAAGGTGCCATCTGTGGCCCTGCTCGCTGCTTCCTCTGAGGCAGACATAGTAGTGACTGTGTTCTGATACAAAGATGGCACTTGCCCGATGCTGCACTGCAGCACCAATGCAGAGGCCCTGGCAAATGTTCGCAGAAGCCCCCGTCCCAGGGCGTGGTCCCCCTTGGAGGAAAAGGGCACCTGTTTTGAAAACACTTGGTTATCATGGTGCCAGAAAGCACTAGTTTAGGCCCCACATGAAACAGTGGCCTTGCCCTCCCAGCATGGGAGAGCCCTCATCTTCCAGGTGGTGGGGGGAGCACAGCATTTGAAGCCCACTCCCCTTTGACCACTTGCTGTTGTCCAGACAGACATCACGCACGTGGGCCTTGCATTGGTTCCTGCTTACTTTGTCTCTGCTGACCCGGTTTCTGCTCCTTGAAGTCTCAGCCCCCTTCTTCCATGATTCCAAGGCATGTCCCTCTAAGGAGGCTTGACCCCACCCTGGAGGGCCTGCTCCCCACTCTCTGCC
TTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCAGACCGCATGGAGGTGCTATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCGGAGCCACACTCTGCTGTCACCCAGCCCCAAACCCAAGAAGTCTGTGGTGGTGAGTAGCCCACCTGCCACCAGGGCAGGGCCTTCTTGCTAGCAGGTGGGGAGGCCGTGGGGGCCGCAGCACGAGGCTGGGATCTCACCATGCATTTGGCTTGGTACAGCCTGTGTCAGGGAGTCAGCATCGTTCGGGACACTGGGCCATACACCCGATGCTAGGTTCCTGCCATCCCAATGTCCCCCGACTTGGGGGTATGTAGGACCGGTCATTCCAGGGCCAGGGCATGAGAGCTCCAGAGATAGAGCTCTGGGAGCAGGACGGGCTGGAAAGAAGGCTCTTCAGAGGGCCTCAGGGTTGGGCTTTCCACACCGGGCGCAGTGGGTGGTGAGCAGTGGGCAGGGGGCCGCGCGCAGTGGGTGGTGGGAGGGGAGCAGCAGGGGAGGGAGGTGAGGCAGGGGTGCAGCGAAGGGGGTCTGGAGGTCACAGGGCAGTGGAGTTTGGCAGGCGCTGGGCAGAAGTCTTGTGACATGGCTGGGGTCATAAGGGGTTGGGGCTGACGCTGGCATGGTTCCCCTTCCTGGCCCGTGCCCACCCCCTGTGGAGAGACCTGGCCTTCCCAGTTTCCAGCTGCCGGTGGAGCCTCCGTGCCTACTGTTCCCTGTGCTGGAATGTTCCCCCAGATTTCCACACAGCCTGCTCCCTCACTTCAGGCGCCCTCTTCATGCCCTGCTGGCCCCCAGCCTGTTCCCCCGATATGCATTCTCCCCTACTGGTCACAGCCCCTGTTACCACCTCCACTGGCACCATCTTGTACGTTTATCTGCTTCCTGCTGTCCTGTTAGCGAGGCCGTGAGCTCACAGGGCAGCACCTGGGCCAAGCCCCCCACGTGACCCCCAGCAGCCCTGCCCTGTCTCTGTGTGAAGACACTGGAGCTGGCCCCAGGCCTCAGGTCCCTGTCCGGGTGTATGTGGCGGGGGCTGGGCTCGGGGCGGCTGCACAGGCACTCTGGGGCCGGCGTAGGGCCTGGCAGACGATGTCCAGGAACCGCTAATCTGTTGTCTTGTTTTTTTTAGGTAAAGAAAAAAAGTTCAAGCTGGACAAAGACAATGGGGTGACTCCTGGAGAGAAGATGCTCACAGTCCCCCATATCACGTGCGACCCCCCAGAAGAGCGGCGGCTGGACCACTTCTCTGTCGACGGCTATGACAGTTCTGGTGAGAACCCCTCAGGCAGTTGGGGGCCGCGGGGCCGGGAAGGTCACTGCCTTTTTTGGGAGCCCGAGCAAGCCAGTGAGTTTCTCCCTTGGGCTGTGGTCTCTGACAACGAGGTATGAACAGACAGAGGGTGGAGCTTCTAGAAACTTCTGTAAACCTTCCAGGTGCCTTCCCCTCAGAGTCTTCCCAAGGAGGAGCTGGCCACGCCTTCTGTTGCGAGAGGAAGCCTGGGCAGGTGATGGGGTGGGTCGGCTCCATCCGGCTGTACTGAGGGAAGGGTGTGTTCCTGATTCCAGCTGCCTGGCTTCCTCCCAGCCGAGCCCACGGGCTCTGGTTGGAAAGTGGCTAGGGTGACCTCTGGGCCTACTGGCAGGGACGCCAGAGGGAAGGGGTTTGGGGATGGGGCCCTGGAGGAGCAGCACCAGGCCCGGGTAAAACGTGGGGGGCCTGACGGGACAGGCCCTTCTCATGCAGCCCAGGGGCCCCGAGTCTGTGCGTGATGGTGTGGCTCGGATCTGCGTCCCTCCTCTCACCCCTGCAGCGGGGGCTGGGATGAAGCTACCTTCTGCGGGACCTGACGATTGGATGGCAGACCTGTCTAGGGTTTAGATGTCCTCCATCCCTGGTGAGGGGTTTTACCCACGCTAACTCGTAAGCGTGGCTCTTTGACAGATGTGGAGAGCGAGGCCCTAGAGGCTGGGCTCGTGTGCTCCAGCCACACGGCGGGAATACAGCAGTGCCCGGTTGTGGCTCCCACGAGTGAGGCCCTGGAGGCTGGGCCCATGTGCTTCAGCCACACGGCAGGAACACAGCAGTGTCTGGTTGTGGCCCCCCCATGCCTCCCGCCAACTTCTGCTGTTCCCAGAAGTGCAGCTGGCTGAGCACAGACACAGCAGGTGACCTGTGGTGATGCCAGGGCATCAGCGCTTGGCCTCCCCACACTGCTCCAGGGCAGACCTGGCCTCCTGGCTGCATCAGGAGGCACACGTGATGCATCCGTCATCTCGGGACCAGTTTTGAGACAAACATCCTATAGGGCAGGACCGTGAACTGGGTAGCTCTACAGAGTGTGAGGGGCTGGAGACCTCCTGCCCACTGGCCACGGATGCCACGGATGCCCTTGAGAGTTAGGAGAGGTGGAAGGGACCCCACTTCTCCCTGGGAGCTCCAACTTCTCTTGCATGTGACTTCAGTGCCCACTTCTGGGGACTGTGATCCCAAACTGCCAAATTCTCTAGCAGCTCTCTTAAAACCAAATGTGAAGGATTCTGGCTTTTTCTGTCCTCTGAGCCCAGCGTGGGGTATTTGAGATAGCTGTGCTGCCACCAGGACAGGGGCGTGCACCTTGTCTTCCCAGGAGAAAACACAGCAAAGCCTGTTTGCTCCCTAGTACCTCGTGCAAAGGTGCCATCTGTGGCCCTGCTCGCTGCTTCCTCTGAGGCAGACATAGTAGTGACTGTGTTCTGATACAAAGATGGCACTTGCCCGATGCTGCACTGCAGCACCAATGCAGAGGCCCTGGCAAATGTTCGCAGAAGCCCCCGTCCCAGGGCGTGGTCCCCCTTGGAGGAAAAGGGCACCTGTTTTGAAAACACTTGGTTATCATGGTGCCAGAAAGCACTAGTTTAGGCCCCACATGAAACAGTGGCCTTGCCCTCCCAGCATGGGAGAGCCCTCATCTTCCAGGTGGTGGGGGGAGCACAGCATTTGAAGCCCACTCCCCTTTGACCACTTGCTGTTGTCCAGACAGACATCACGCACGTGGGCCTTGCATTGGTTCCTGCTTACTTTGTCTCTGCTGACCCGGTTTCTGCTCCTTGAAGTCTCAGCCCCCTTCTTCCATGATTCCAAGGCATGTCCCTCTAAGGAGGCTTGACCCCACCCTGGAGGGCCTGCTCCCCACTCTCTGCCN
pathogenic
170,834
Regarding the variant at chromosome 11 and position 2588798, affecting gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Atrial_fibrillation,_familial,_3', 'Cardiovascular_phenotype', 'Congenital_long_QT_syndrome', 'Jervell_and_Lange-Nielsen_syndrome_1', 'Long_QT_syndrome', 'Long_QT_syndrome_1', 'Short_QT_syndrome_type_2']
CTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCAGACCGCATGGAGGTGCTATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCGGAGCCACACTCTGCTGTCACCCAGCCCCAAACCCAAGAAGTCTGTGGTGGTGAGTAGCCCACCTGCCACCAGGGCAGGGCCTTCTTGCTAGCAGGTGGGGAGGCCGTGGGGGCCGCAGCACGAGGCTGGGATCTCACCATGCATTTGGCTTGGTACAGCCTGTGTCAGGGAGTCAGCATCGTTCGGGACACTGGGCCATACACCCGATGCTAGGTTCCTGCCATCCCAATGTCCCCCGACTTGGGGGTATGTAGGACCGGTCATTCCAGGGCCAGGGCATGAGAGCTCCAGAGATAGAGCTCTGGGAGCAGGACGGGCTGGAAAGAAGGCTCTTCAGAGGGCCTCAGGGTTGGGCTTTCCACACCGGGCGCAGTGGGTGGTGAGCAGTGGGCAGGGGGCCGCGCGCAGTGGGTGGTGGGAGGGGAGCAGCAGGGGAGGGAGGTGAGGCAGGGGTGCAGCGAAGGGGGTCTGGAGGTCACAGGGCAGTGGAGTTTGGCAGGCGCTGGGCAGAAGTCTTGTGACATGGCTGGGGTCATAAGGGGTTGGGGCTGACGCTGGCATGGTTCCCCTTCCTGGCCCGTGCCCACCCCCTGTGGAGAGACCTGGCCTTCCCAGTTTCCAGCTGCCGGTGGAGCCTCCGTGCCTACTGTTCCCTGTGCTGGAATGTTCCCCCAGATTTCCACACAGCCTGCTCCCTCACTTCAGGCGCCCTCTTCATGCCCTGCTGGCCCCCAGCCTGTTCCCCCGATATGCATTCTCCCCTACTGGTCACAGCCCCTGTTACCACCTCCACTGGCACCATCTTGTACGTTTATCTGCTTCCTGCTGTCCTGTTAGCGAGGCCGTGAGCTCACAGGGCAGCACCTGGGCCAAGCCCCCCACGTGACCCCCAGCAGCCCTGCCCTGTCTCTGTGTGAAGACACTGGAGCTGGCCCCAGGCCTCAGGTCCCTGTCCGGGTGTATGTGGCGGGGGCTGGGCTCGGGGCGGCTGCACAGGCACTCTGGGGCCGGCGTAGGGCCTGGCAGACGATGTCCAGGAACCGCTAATCTGTTGTCTTGTTTTTTTTAGGTAAAGAAAAAAAAGTTCAAGCTGGACAAAGACAATGGGGTGACTCCTGGAGAGAAGATGCTCACAGTCCCCCATATCACGTGCGACCCCCCAGAAGAGCGGCGGCTGGACCACTTCTCTGTCGACGGCTATGACAGTTCTGGTGAGAACCCCTCAGGCAGTTGGGGGCCGCGGGGCCGGGAAGGTCACTGCCTTTTTTGGGAGCCCGAGCAAGCCAGTGAGTTTCTCCCTTGGGCTGTGGTCTCTGACAACGAGGTATGAACAGACAGAGGGTGGAGCTTCTAGAAACTTCTGTAAACCTTCCAGGTGCCTTCCCCTCAGAGTCTTCCCAAGGAGGAGCTGGCCACGCCTTCTGTTGCGAGAGGAAGCCTGGGCAGGTGATGGGGTGGGTCGGCTCCATCCGGCTGTACTGAGGGAAGGGTGTGTTCCTGATTCCAGCTGCCTGGCTTCCTCCCAGCCGAGCCCACGGGCTCTGGTTGGAAAGTGGCTAGGGTGACCTCTGGGCCTACTGGCAGGGACGCCAGAGGGAAGGGGTTTGGGGATGGGGCCCTGGAGGAGCAGCACCAGGCCCGGGTAAAACGTGGGGGGCCTGACGGGACAGGCCCTTCTCATGCAGCCCAGGGGCCCCGAGTCTGTGCGTGATGGTGTGGCTCGGATCTGCGTCCCTCCTCTCACCCCTGCAGCGGGGGCTGGGATGAAGCTACCTTCTGCGGGACCTGACGATTGGATGGCAGACCTGTCTAGGGTTTAGATGTCCTCCATCCCTGGTGAGGGGTTTTACCCACGCTAACTCGTAAGCGTGGCTCTTTGACAGATGTGGAGAGCGAGGCCCTAGAGGCTGGGCTCGTGTGCTCCAGCCACACGGCGGGAATACAGCAGTGCCCGGTTGTGGCTCCCACGAGTGAGGCCCTGGAGGCTGGGCCCATGTGCTTCAGCCACACGGCAGGAACACAGCAGTGTCTGGTTGTGGCCCCCCCATGCCTCCCGCCAACTTCTGCTGTTCCCAGAAGTGCAGCTGGCTGAGCACAGACACAGCAGGTGACCTGTGGTGATGCCAGGGCATCAGCGCTTGGCCTCCCCACACTGCTCCAGGGCAGACCTGGCCTCCTGGCTGCATCAGGAGGCACACGTGATGCATCCGTCATCTCGGGACCAGTTTTGAGACAAACATCCTATAGGGCAGGACCGTGAACTGGGTAGCTCTACAGAGTGTGAGGGGCTGGAGACCTCCTGCCCACTGGCCACGGATGCCACGGATGCCCTTGAGAGTTAGGAGAGGTGGAAGGGACCCCACTTCTCCCTGGGAGCTCCAACTTCTCTTGCATGTGACTTCAGTGCCCACTTCTGGGGACTGTGATCCCAAACTGCCAAATTCTCTAGCAGCTCTCTTAAAACCAAATGTGAAGGATTCTGGCTTTTTCTGTCCTCTGAGCCCAGCGTGGGGTATTTGAGATAGCTGTGCTGCCACCAGGACAGGGGCGTGCACCTTGTCTTCCCAGGAGAAAACACAGCAAAGCCTGTTTGCTCCCTAGTACCTCGTGCAAAGGTGCCATCTGTGGCCCTGCTCGCTGCTTCCTCTGAGGCAGACATAGTAGTGACTGTGTTCTGATACAAAGATGGCACTTGCCCGATGCTGCACTGCAGCACCAATGCAGAGGCCCTGGCAAATGTTCGCAGAAGCCCCCGTCCCAGGGCGTGGTCCCCCTTGGAGGAAAAGGGCACCTGTTTTGAAAACACTTGGTTATCATGGTGCCAGAAAGCACTAGTTTAGGCCCCACATGAAACAGTGGCCTTGCCCTCCCAGCATGGGAGAGCCCTCATCTTCCAGGTGGTGGGGGGAGCACAGCATTTGAAGCCCACTCCCCTTTGACCACTTGCTGTTGTCCAGACAGACATCACGCACGTGGGCCTTGCATTGGTTCCTGCTTACTTTGTCTCTGCTGACCCGGTTTCTGCTCCTTGAAGTCTCAGCCCCCTTCTTCCATGATTCCAAGGCATGTCCCTCTAAGGAGGCTTGACCCCACCCTGGAGGGCCTGCTCCCCACTCTCTGCCTTCCATGCCCCATGGGAGGGCTCCATGTGGCCCAGTCCCTTGGAGGCTGGACCCCACTGTTCCGGACTCTGGGCTGTTGG
CTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCAGACCGCATGGAGGTGCTATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCGGAGCCACACTCTGCTGTCACCCAGCCCCAAACCCAAGAAGTCTGTGGTGGTGAGTAGCCCACCTGCCACCAGGGCAGGGCCTTCTTGCTAGCAGGTGGGGAGGCCGTGGGGGCCGCAGCACGAGGCTGGGATCTCACCATGCATTTGGCTTGGTACAGCCTGTGTCAGGGAGTCAGCATCGTTCGGGACACTGGGCCATACACCCGATGCTAGGTTCCTGCCATCCCAATGTCCCCCGACTTGGGGGTATGTAGGACCGGTCATTCCAGGGCCAGGGCATGAGAGCTCCAGAGATAGAGCTCTGGGAGCAGGACGGGCTGGAAAGAAGGCTCTTCAGAGGGCCTCAGGGTTGGGCTTTCCACACCGGGCGCAGTGGGTGGTGAGCAGTGGGCAGGGGGCCGCGCGCAGTGGGTGGTGGGAGGGGAGCAGCAGGGGAGGGAGGTGAGGCAGGGGTGCAGCGAAGGGGGTCTGGAGGTCACAGGGCAGTGGAGTTTGGCAGGCGCTGGGCAGAAGTCTTGTGACATGGCTGGGGTCATAAGGGGTTGGGGCTGACGCTGGCATGGTTCCCCTTCCTGGCCCGTGCCCACCCCCTGTGGAGAGACCTGGCCTTCCCAGTTTCCAGCTGCCGGTGGAGCCTCCGTGCCTACTGTTCCCTGTGCTGGAATGTTCCCCCAGATTTCCACACAGCCTGCTCCCTCACTTCAGGCGCCCTCTTCATGCCCTGCTGGCCCCCAGCCTGTTCCCCCGATATGCATTCTCCCCTACTGGTCACAGCCCCTGTTACCACCTCCACTGGCACCATCTTGTACGTTTATCTGCTTCCTGCTGTCCTGTTAGCGAGGCCGTGAGCTCACAGGGCAGCACCTGGGCCAAGCCCCCCACGTGACCCCCAGCAGCCCTGCCCTGTCTCTGTGTGAAGACACTGGAGCTGGCCCCAGGCCTCAGGTCCCTGTCCGGGTGTATGTGGCGGGGGCTGGGCTCGGGGCGGCTGCACAGGCACTCTGGGGCCGGCGTAGGGCCTGGCAGACGATGTCCAGGAACCGCTAATCTGTTGTCTTGTTTTTTTTAGGTAAAGAAAAAAAAGTTCAAGCTGGACAAAGACAATGGGGTGACTCCTGGAGAGAAGATGCTCACAGTCCCCCATATCACGTGCGACCCCCCCAGAAGAGCGGCGGCTGGACCACTTCTCTGTCGACGGCTATGACAGTTCTGGTGAGAACCCCTCAGGCAGTTGGGGGCCGCGGGGCCGGGAAGGTCACTGCCTTTTTTGGGAGCCCGAGCAAGCCAGTGAGTTTCTCCCTTGGGCTGTGGTCTCTGACAACGAGGTATGAACAGACAGAGGGTGGAGCTTCTAGAAACTTCTGTAAACCTTCCAGGTGCCTTCCCCTCAGAGTCTTCCCAAGGAGGAGCTGGCCACGCCTTCTGTTGCGAGAGGAAGCCTGGGCAGGTGATGGGGTGGGTCGGCTCCATCCGGCTGTACTGAGGGAAGGGTGTGTTCCTGATTCCAGCTGCCTGGCTTCCTCCCAGCCGAGCCCACGGGCTCTGGTTGGAAAGTGGCTAGGGTGACCTCTGGGCCTACTGGCAGGGACGCCAGAGGGAAGGGGTTTGGGGATGGGGCCCTGGAGGAGCAGCACCAGGCCCGGGTAAAACGTGGGGGGCCTGACGGGACAGGCCCTTCTCATGCAGCCCAGGGGCCCCGAGTCTGTGCGTGATGGTGTGGCTCGGATCTGCGTCCCTCCTCTCACCCCTGCAGCGGGGGCTGGGATGAAGCTACCTTCTGCGGGACCTGACGATTGGATGGCAGACCTGTCTAGGGTTTAGATGTCCTCCATCCCTGGTGAGGGGTTTTACCCACGCTAACTCGTAAGCGTGGCTCTTTGACAGATGTGGAGAGCGAGGCCCTAGAGGCTGGGCTCGTGTGCTCCAGCCACACGGCGGGAATACAGCAGTGCCCGGTTGTGGCTCCCACGAGTGAGGCCCTGGAGGCTGGGCCCATGTGCTTCAGCCACACGGCAGGAACACAGCAGTGTCTGGTTGTGGCCCCCCCATGCCTCCCGCCAACTTCTGCTGTTCCCAGAAGTGCAGCTGGCTGAGCACAGACACAGCAGGTGACCTGTGGTGATGCCAGGGCATCAGCGCTTGGCCTCCCCACACTGCTCCAGGGCAGACCTGGCCTCCTGGCTGCATCAGGAGGCACACGTGATGCATCCGTCATCTCGGGACCAGTTTTGAGACAAACATCCTATAGGGCAGGACCGTGAACTGGGTAGCTCTACAGAGTGTGAGGGGCTGGAGACCTCCTGCCCACTGGCCACGGATGCCACGGATGCCCTTGAGAGTTAGGAGAGGTGGAAGGGACCCCACTTCTCCCTGGGAGCTCCAACTTCTCTTGCATGTGACTTCAGTGCCCACTTCTGGGGACTGTGATCCCAAACTGCCAAATTCTCTAGCAGCTCTCTTAAAACCAAATGTGAAGGATTCTGGCTTTTTCTGTCCTCTGAGCCCAGCGTGGGGTATTTGAGATAGCTGTGCTGCCACCAGGACAGGGGCGTGCACCTTGTCTTCCCAGGAGAAAACACAGCAAAGCCTGTTTGCTCCCTAGTACCTCGTGCAAAGGTGCCATCTGTGGCCCTGCTCGCTGCTTCCTCTGAGGCAGACATAGTAGTGACTGTGTTCTGATACAAAGATGGCACTTGCCCGATGCTGCACTGCAGCACCAATGCAGAGGCCCTGGCAAATGTTCGCAGAAGCCCCCGTCCCAGGGCGTGGTCCCCCTTGGAGGAAAAGGGCACCTGTTTTGAAAACACTTGGTTATCATGGTGCCAGAAAGCACTAGTTTAGGCCCCACATGAAACAGTGGCCTTGCCCTCCCAGCATGGGAGAGCCCTCATCTTCCAGGTGGTGGGGGGAGCACAGCATTTGAAGCCCACTCCCCTTTGACCACTTGCTGTTGTCCAGACAGACATCACGCACGTGGGCCTTGCATTGGTTCCTGCTTACTTTGTCTCTGCTGACCCGGTTTCTGCTCCTTGAAGTCTCAGCCCCCTTCTTCCATGATTCCAAGGCATGTCCCTCTAAGGAGGCTTGACCCCACCCTGGAGGGCCTGCTCCCCACTCTCTGCCTTCCATGCCCCATGGGAGGGCTCCATGTGGCCCAGTCCCTTGGAGGCTGGACCCCACTGTTCCGGACTCTGGGCTGTTG
pathogenic
170,847
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 2588798, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1): what disease(s) if pathogenic?
pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_1']
CTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCAGACCGCATGGAGGTGCTATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCGGAGCCACACTCTGCTGTCACCCAGCCCCAAACCCAAGAAGTCTGTGGTGGTGAGTAGCCCACCTGCCACCAGGGCAGGGCCTTCTTGCTAGCAGGTGGGGAGGCCGTGGGGGCCGCAGCACGAGGCTGGGATCTCACCATGCATTTGGCTTGGTACAGCCTGTGTCAGGGAGTCAGCATCGTTCGGGACACTGGGCCATACACCCGATGCTAGGTTCCTGCCATCCCAATGTCCCCCGACTTGGGGGTATGTAGGACCGGTCATTCCAGGGCCAGGGCATGAGAGCTCCAGAGATAGAGCTCTGGGAGCAGGACGGGCTGGAAAGAAGGCTCTTCAGAGGGCCTCAGGGTTGGGCTTTCCACACCGGGCGCAGTGGGTGGTGAGCAGTGGGCAGGGGGCCGCGCGCAGTGGGTGGTGGGAGGGGAGCAGCAGGGGAGGGAGGTGAGGCAGGGGTGCAGCGAAGGGGGTCTGGAGGTCACAGGGCAGTGGAGTTTGGCAGGCGCTGGGCAGAAGTCTTGTGACATGGCTGGGGTCATAAGGGGTTGGGGCTGACGCTGGCATGGTTCCCCTTCCTGGCCCGTGCCCACCCCCTGTGGAGAGACCTGGCCTTCCCAGTTTCCAGCTGCCGGTGGAGCCTCCGTGCCTACTGTTCCCTGTGCTGGAATGTTCCCCCAGATTTCCACACAGCCTGCTCCCTCACTTCAGGCGCCCTCTTCATGCCCTGCTGGCCCCCAGCCTGTTCCCCCGATATGCATTCTCCCCTACTGGTCACAGCCCCTGTTACCACCTCCACTGGCACCATCTTGTACGTTTATCTGCTTCCTGCTGTCCTGTTAGCGAGGCCGTGAGCTCACAGGGCAGCACCTGGGCCAAGCCCCCCACGTGACCCCCAGCAGCCCTGCCCTGTCTCTGTGTGAAGACACTGGAGCTGGCCCCAGGCCTCAGGTCCCTGTCCGGGTGTATGTGGCGGGGGCTGGGCTCGGGGCGGCTGCACAGGCACTCTGGGGCCGGCGTAGGGCCTGGCAGACGATGTCCAGGAACCGCTAATCTGTTGTCTTGTTTTTTTTAGGTAAAGAAAAAAAAGTTCAAGCTGGACAAAGACAATGGGGTGACTCCTGGAGAGAAGATGCTCACAGTCCCCCATATCACGTGCGACCCCCCAGAAGAGCGGCGGCTGGACCACTTCTCTGTCGACGGCTATGACAGTTCTGGTGAGAACCCCTCAGGCAGTTGGGGGCCGCGGGGCCGGGAAGGTCACTGCCTTTTTTGGGAGCCCGAGCAAGCCAGTGAGTTTCTCCCTTGGGCTGTGGTCTCTGACAACGAGGTATGAACAGACAGAGGGTGGAGCTTCTAGAAACTTCTGTAAACCTTCCAGGTGCCTTCCCCTCAGAGTCTTCCCAAGGAGGAGCTGGCCACGCCTTCTGTTGCGAGAGGAAGCCTGGGCAGGTGATGGGGTGGGTCGGCTCCATCCGGCTGTACTGAGGGAAGGGTGTGTTCCTGATTCCAGCTGCCTGGCTTCCTCCCAGCCGAGCCCACGGGCTCTGGTTGGAAAGTGGCTAGGGTGACCTCTGGGCCTACTGGCAGGGACGCCAGAGGGAAGGGGTTTGGGGATGGGGCCCTGGAGGAGCAGCACCAGGCCCGGGTAAAACGTGGGGGGCCTGACGGGACAGGCCCTTCTCATGCAGCCCAGGGGCCCCGAGTCTGTGCGTGATGGTGTGGCTCGGATCTGCGTCCCTCCTCTCACCCCTGCAGCGGGGGCTGGGATGAAGCTACCTTCTGCGGGACCTGACGATTGGATGGCAGACCTGTCTAGGGTTTAGATGTCCTCCATCCCTGGTGAGGGGTTTTACCCACGCTAACTCGTAAGCGTGGCTCTTTGACAGATGTGGAGAGCGAGGCCCTAGAGGCTGGGCTCGTGTGCTCCAGCCACACGGCGGGAATACAGCAGTGCCCGGTTGTGGCTCCCACGAGTGAGGCCCTGGAGGCTGGGCCCATGTGCTTCAGCCACACGGCAGGAACACAGCAGTGTCTGGTTGTGGCCCCCCCATGCCTCCCGCCAACTTCTGCTGTTCCCAGAAGTGCAGCTGGCTGAGCACAGACACAGCAGGTGACCTGTGGTGATGCCAGGGCATCAGCGCTTGGCCTCCCCACACTGCTCCAGGGCAGACCTGGCCTCCTGGCTGCATCAGGAGGCACACGTGATGCATCCGTCATCTCGGGACCAGTTTTGAGACAAACATCCTATAGGGCAGGACCGTGAACTGGGTAGCTCTACAGAGTGTGAGGGGCTGGAGACCTCCTGCCCACTGGCCACGGATGCCACGGATGCCCTTGAGAGTTAGGAGAGGTGGAAGGGACCCCACTTCTCCCTGGGAGCTCCAACTTCTCTTGCATGTGACTTCAGTGCCCACTTCTGGGGACTGTGATCCCAAACTGCCAAATTCTCTAGCAGCTCTCTTAAAACCAAATGTGAAGGATTCTGGCTTTTTCTGTCCTCTGAGCCCAGCGTGGGGTATTTGAGATAGCTGTGCTGCCACCAGGACAGGGGCGTGCACCTTGTCTTCCCAGGAGAAAACACAGCAAAGCCTGTTTGCTCCCTAGTACCTCGTGCAAAGGTGCCATCTGTGGCCCTGCTCGCTGCTTCCTCTGAGGCAGACATAGTAGTGACTGTGTTCTGATACAAAGATGGCACTTGCCCGATGCTGCACTGCAGCACCAATGCAGAGGCCCTGGCAAATGTTCGCAGAAGCCCCCGTCCCAGGGCGTGGTCCCCCTTGGAGGAAAAGGGCACCTGTTTTGAAAACACTTGGTTATCATGGTGCCAGAAAGCACTAGTTTAGGCCCCACATGAAACAGTGGCCTTGCCCTCCCAGCATGGGAGAGCCCTCATCTTCCAGGTGGTGGGGGGAGCACAGCATTTGAAGCCCACTCCCCTTTGACCACTTGCTGTTGTCCAGACAGACATCACGCACGTGGGCCTTGCATTGGTTCCTGCTTACTTTGTCTCTGCTGACCCGGTTTCTGCTCCTTGAAGTCTCAGCCCCCTTCTTCCATGATTCCAAGGCATGTCCCTCTAAGGAGGCTTGACCCCACCCTGGAGGGCCTGCTCCCCACTCTCTGCCTTCCATGCCCCATGGGAGGGCTCCATGTGGCCCAGTCCCTTGGAGGCTGGACCCCACTGTTCCGGACTCTGGGCTGTTGG
CTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCAGACCGCATGGAGGTGCTATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCGGAGCCACACTCTGCTGTCACCCAGCCCCAAACCCAAGAAGTCTGTGGTGGTGAGTAGCCCACCTGCCACCAGGGCAGGGCCTTCTTGCTAGCAGGTGGGGAGGCCGTGGGGGCCGCAGCACGAGGCTGGGATCTCACCATGCATTTGGCTTGGTACAGCCTGTGTCAGGGAGTCAGCATCGTTCGGGACACTGGGCCATACACCCGATGCTAGGTTCCTGCCATCCCAATGTCCCCCGACTTGGGGGTATGTAGGACCGGTCATTCCAGGGCCAGGGCATGAGAGCTCCAGAGATAGAGCTCTGGGAGCAGGACGGGCTGGAAAGAAGGCTCTTCAGAGGGCCTCAGGGTTGGGCTTTCCACACCGGGCGCAGTGGGTGGTGAGCAGTGGGCAGGGGGCCGCGCGCAGTGGGTGGTGGGAGGGGAGCAGCAGGGGAGGGAGGTGAGGCAGGGGTGCAGCGAAGGGGGTCTGGAGGTCACAGGGCAGTGGAGTTTGGCAGGCGCTGGGCAGAAGTCTTGTGACATGGCTGGGGTCATAAGGGGTTGGGGCTGACGCTGGCATGGTTCCCCTTCCTGGCCCGTGCCCACCCCCTGTGGAGAGACCTGGCCTTCCCAGTTTCCAGCTGCCGGTGGAGCCTCCGTGCCTACTGTTCCCTGTGCTGGAATGTTCCCCCAGATTTCCACACAGCCTGCTCCCTCACTTCAGGCGCCCTCTTCATGCCCTGCTGGCCCCCAGCCTGTTCCCCCGATATGCATTCTCCCCTACTGGTCACAGCCCCTGTTACCACCTCCACTGGCACCATCTTGTACGTTTATCTGCTTCCTGCTGTCCTGTTAGCGAGGCCGTGAGCTCACAGGGCAGCACCTGGGCCAAGCCCCCCACGTGACCCCCAGCAGCCCTGCCCTGTCTCTGTGTGAAGACACTGGAGCTGGCCCCAGGCCTCAGGTCCCTGTCCGGGTGTATGTGGCGGGGGCTGGGCTCGGGGCGGCTGCACAGGCACTCTGGGGCCGGCGTAGGGCCTGGCAGACGATGTCCAGGAACCGCTAATCTGTTGTCTTGTTTTTTTTAGGTAAAGAAAAAAAAGTTCAAGCTGGACAAAGACAATGGGGTGACTCCTGGAGAGAAGATGCTCACAGTCCCCCATATCACGTGCGACCCCCAGAAGAGCGGCGGCTGGACCACTTCTCTGTCGACGGCTATGACAGTTCTGGTGAGAACCCCTCAGGCAGTTGGGGGCCGCGGGGCCGGGAAGGTCACTGCCTTTTTTGGGAGCCCGAGCAAGCCAGTGAGTTTCTCCCTTGGGCTGTGGTCTCTGACAACGAGGTATGAACAGACAGAGGGTGGAGCTTCTAGAAACTTCTGTAAACCTTCCAGGTGCCTTCCCCTCAGAGTCTTCCCAAGGAGGAGCTGGCCACGCCTTCTGTTGCGAGAGGAAGCCTGGGCAGGTGATGGGGTGGGTCGGCTCCATCCGGCTGTACTGAGGGAAGGGTGTGTTCCTGATTCCAGCTGCCTGGCTTCCTCCCAGCCGAGCCCACGGGCTCTGGTTGGAAAGTGGCTAGGGTGACCTCTGGGCCTACTGGCAGGGACGCCAGAGGGAAGGGGTTTGGGGATGGGGCCCTGGAGGAGCAGCACCAGGCCCGGGTAAAACGTGGGGGGCCTGACGGGACAGGCCCTTCTCATGCAGCCCAGGGGCCCCGAGTCTGTGCGTGATGGTGTGGCTCGGATCTGCGTCCCTCCTCTCACCCCTGCAGCGGGGGCTGGGATGAAGCTACCTTCTGCGGGACCTGACGATTGGATGGCAGACCTGTCTAGGGTTTAGATGTCCTCCATCCCTGGTGAGGGGTTTTACCCACGCTAACTCGTAAGCGTGGCTCTTTGACAGATGTGGAGAGCGAGGCCCTAGAGGCTGGGCTCGTGTGCTCCAGCCACACGGCGGGAATACAGCAGTGCCCGGTTGTGGCTCCCACGAGTGAGGCCCTGGAGGCTGGGCCCATGTGCTTCAGCCACACGGCAGGAACACAGCAGTGTCTGGTTGTGGCCCCCCCATGCCTCCCGCCAACTTCTGCTGTTCCCAGAAGTGCAGCTGGCTGAGCACAGACACAGCAGGTGACCTGTGGTGATGCCAGGGCATCAGCGCTTGGCCTCCCCACACTGCTCCAGGGCAGACCTGGCCTCCTGGCTGCATCAGGAGGCACACGTGATGCATCCGTCATCTCGGGACCAGTTTTGAGACAAACATCCTATAGGGCAGGACCGTGAACTGGGTAGCTCTACAGAGTGTGAGGGGCTGGAGACCTCCTGCCCACTGGCCACGGATGCCACGGATGCCCTTGAGAGTTAGGAGAGGTGGAAGGGACCCCACTTCTCCCTGGGAGCTCCAACTTCTCTTGCATGTGACTTCAGTGCCCACTTCTGGGGACTGTGATCCCAAACTGCCAAATTCTCTAGCAGCTCTCTTAAAACCAAATGTGAAGGATTCTGGCTTTTTCTGTCCTCTGAGCCCAGCGTGGGGTATTTGAGATAGCTGTGCTGCCACCAGGACAGGGGCGTGCACCTTGTCTTCCCAGGAGAAAACACAGCAAAGCCTGTTTGCTCCCTAGTACCTCGTGCAAAGGTGCCATCTGTGGCCCTGCTCGCTGCTTCCTCTGAGGCAGACATAGTAGTGACTGTGTTCTGATACAAAGATGGCACTTGCCCGATGCTGCACTGCAGCACCAATGCAGAGGCCCTGGCAAATGTTCGCAGAAGCCCCCGTCCCAGGGCGTGGTCCCCCTTGGAGGAAAAGGGCACCTGTTTTGAAAACACTTGGTTATCATGGTGCCAGAAAGCACTAGTTTAGGCCCCACATGAAACAGTGGCCTTGCCCTCCCAGCATGGGAGAGCCCTCATCTTCCAGGTGGTGGGGGGAGCACAGCATTTGAAGCCCACTCCCCTTTGACCACTTGCTGTTGTCCAGACAGACATCACGCACGTGGGCCTTGCATTGGTTCCTGCTTACTTTGTCTCTGCTGACCCGGTTTCTGCTCCTTGAAGTCTCAGCCCCCTTCTTCCATGATTCCAAGGCATGTCCCTCTAAGGAGGCTTGACCCCACCCTGGAGGGCCTGCTCCCCACTCTCTGCCTTCCATGCCCCATGGGAGGGCTCCATGTGGCCCAGTCCCTTGGAGGCTGGACCCCACTGTTCCGGACTCTGGGCTGTTGGN
pathogenic
170,848
Located at chromosome 11 position 2588804, the variant affecting gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['Long_QT_syndrome']
TGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCAGACCGCATGGAGGTGCTATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCGGAGCCACACTCTGCTGTCACCCAGCCCCAAACCCAAGAAGTCTGTGGTGGTGAGTAGCCCACCTGCCACCAGGGCAGGGCCTTCTTGCTAGCAGGTGGGGAGGCCGTGGGGGCCGCAGCACGAGGCTGGGATCTCACCATGCATTTGGCTTGGTACAGCCTGTGTCAGGGAGTCAGCATCGTTCGGGACACTGGGCCATACACCCGATGCTAGGTTCCTGCCATCCCAATGTCCCCCGACTTGGGGGTATGTAGGACCGGTCATTCCAGGGCCAGGGCATGAGAGCTCCAGAGATAGAGCTCTGGGAGCAGGACGGGCTGGAAAGAAGGCTCTTCAGAGGGCCTCAGGGTTGGGCTTTCCACACCGGGCGCAGTGGGTGGTGAGCAGTGGGCAGGGGGCCGCGCGCAGTGGGTGGTGGGAGGGGAGCAGCAGGGGAGGGAGGTGAGGCAGGGGTGCAGCGAAGGGGGTCTGGAGGTCACAGGGCAGTGGAGTTTGGCAGGCGCTGGGCAGAAGTCTTGTGACATGGCTGGGGTCATAAGGGGTTGGGGCTGACGCTGGCATGGTTCCCCTTCCTGGCCCGTGCCCACCCCCTGTGGAGAGACCTGGCCTTCCCAGTTTCCAGCTGCCGGTGGAGCCTCCGTGCCTACTGTTCCCTGTGCTGGAATGTTCCCCCAGATTTCCACACAGCCTGCTCCCTCACTTCAGGCGCCCTCTTCATGCCCTGCTGGCCCCCAGCCTGTTCCCCCGATATGCATTCTCCCCTACTGGTCACAGCCCCTGTTACCACCTCCACTGGCACCATCTTGTACGTTTATCTGCTTCCTGCTGTCCTGTTAGCGAGGCCGTGAGCTCACAGGGCAGCACCTGGGCCAAGCCCCCCACGTGACCCCCAGCAGCCCTGCCCTGTCTCTGTGTGAAGACACTGGAGCTGGCCCCAGGCCTCAGGTCCCTGTCCGGGTGTATGTGGCGGGGGCTGGGCTCGGGGCGGCTGCACAGGCACTCTGGGGCCGGCGTAGGGCCTGGCAGACGATGTCCAGGAACCGCTAATCTGTTGTCTTGTTTTTTTTAGGTAAAGAAAAAAAAGTTCAAGCTGGACAAAGACAATGGGGTGACTCCTGGAGAGAAGATGCTCACAGTCCCCCATATCACGTGCGACCCCCCAGAAGAGCGGCGGCTGGACCACTTCTCTGTCGACGGCTATGACAGTTCTGGTGAGAACCCCTCAGGCAGTTGGGGGCCGCGGGGCCGGGAAGGTCACTGCCTTTTTTGGGAGCCCGAGCAAGCCAGTGAGTTTCTCCCTTGGGCTGTGGTCTCTGACAACGAGGTATGAACAGACAGAGGGTGGAGCTTCTAGAAACTTCTGTAAACCTTCCAGGTGCCTTCCCCTCAGAGTCTTCCCAAGGAGGAGCTGGCCACGCCTTCTGTTGCGAGAGGAAGCCTGGGCAGGTGATGGGGTGGGTCGGCTCCATCCGGCTGTACTGAGGGAAGGGTGTGTTCCTGATTCCAGCTGCCTGGCTTCCTCCCAGCCGAGCCCACGGGCTCTGGTTGGAAAGTGGCTAGGGTGACCTCTGGGCCTACTGGCAGGGACGCCAGAGGGAAGGGGTTTGGGGATGGGGCCCTGGAGGAGCAGCACCAGGCCCGGGTAAAACGTGGGGGGCCTGACGGGACAGGCCCTTCTCATGCAGCCCAGGGGCCCCGAGTCTGTGCGTGATGGTGTGGCTCGGATCTGCGTCCCTCCTCTCACCCCTGCAGCGGGGGCTGGGATGAAGCTACCTTCTGCGGGACCTGACGATTGGATGGCAGACCTGTCTAGGGTTTAGATGTCCTCCATCCCTGGTGAGGGGTTTTACCCACGCTAACTCGTAAGCGTGGCTCTTTGACAGATGTGGAGAGCGAGGCCCTAGAGGCTGGGCTCGTGTGCTCCAGCCACACGGCGGGAATACAGCAGTGCCCGGTTGTGGCTCCCACGAGTGAGGCCCTGGAGGCTGGGCCCATGTGCTTCAGCCACACGGCAGGAACACAGCAGTGTCTGGTTGTGGCCCCCCCATGCCTCCCGCCAACTTCTGCTGTTCCCAGAAGTGCAGCTGGCTGAGCACAGACACAGCAGGTGACCTGTGGTGATGCCAGGGCATCAGCGCTTGGCCTCCCCACACTGCTCCAGGGCAGACCTGGCCTCCTGGCTGCATCAGGAGGCACACGTGATGCATCCGTCATCTCGGGACCAGTTTTGAGACAAACATCCTATAGGGCAGGACCGTGAACTGGGTAGCTCTACAGAGTGTGAGGGGCTGGAGACCTCCTGCCCACTGGCCACGGATGCCACGGATGCCCTTGAGAGTTAGGAGAGGTGGAAGGGACCCCACTTCTCCCTGGGAGCTCCAACTTCTCTTGCATGTGACTTCAGTGCCCACTTCTGGGGACTGTGATCCCAAACTGCCAAATTCTCTAGCAGCTCTCTTAAAACCAAATGTGAAGGATTCTGGCTTTTTCTGTCCTCTGAGCCCAGCGTGGGGTATTTGAGATAGCTGTGCTGCCACCAGGACAGGGGCGTGCACCTTGTCTTCCCAGGAGAAAACACAGCAAAGCCTGTTTGCTCCCTAGTACCTCGTGCAAAGGTGCCATCTGTGGCCCTGCTCGCTGCTTCCTCTGAGGCAGACATAGTAGTGACTGTGTTCTGATACAAAGATGGCACTTGCCCGATGCTGCACTGCAGCACCAATGCAGAGGCCCTGGCAAATGTTCGCAGAAGCCCCCGTCCCAGGGCGTGGTCCCCCTTGGAGGAAAAGGGCACCTGTTTTGAAAACACTTGGTTATCATGGTGCCAGAAAGCACTAGTTTAGGCCCCACATGAAACAGTGGCCTTGCCCTCCCAGCATGGGAGAGCCCTCATCTTCCAGGTGGTGGGGGGAGCACAGCATTTGAAGCCCACTCCCCTTTGACCACTTGCTGTTGTCCAGACAGACATCACGCACGTGGGCCTTGCATTGGTTCCTGCTTACTTTGTCTCTGCTGACCCGGTTTCTGCTCCTTGAAGTCTCAGCCCCCTTCTTCCATGATTCCAAGGCATGTCCCTCTAAGGAGGCTTGACCCCACCCTGGAGGGCCTGCTCCCCACTCTCTGCCTTCCATGCCCCATGGGAGGGCTCCATGTGGCCCAGTCCCTTGGAGGCTGGACCCCACTGTTCCGGACTCTGGGCTGTTGGAAGCCA
TGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCAGACCGCATGGAGGTGCTATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCGGAGCCACACTCTGCTGTCACCCAGCCCCAAACCCAAGAAGTCTGTGGTGGTGAGTAGCCCACCTGCCACCAGGGCAGGGCCTTCTTGCTAGCAGGTGGGGAGGCCGTGGGGGCCGCAGCACGAGGCTGGGATCTCACCATGCATTTGGCTTGGTACAGCCTGTGTCAGGGAGTCAGCATCGTTCGGGACACTGGGCCATACACCCGATGCTAGGTTCCTGCCATCCCAATGTCCCCCGACTTGGGGGTATGTAGGACCGGTCATTCCAGGGCCAGGGCATGAGAGCTCCAGAGATAGAGCTCTGGGAGCAGGACGGGCTGGAAAGAAGGCTCTTCAGAGGGCCTCAGGGTTGGGCTTTCCACACCGGGCGCAGTGGGTGGTGAGCAGTGGGCAGGGGGCCGCGCGCAGTGGGTGGTGGGAGGGGAGCAGCAGGGGAGGGAGGTGAGGCAGGGGTGCAGCGAAGGGGGTCTGGAGGTCACAGGGCAGTGGAGTTTGGCAGGCGCTGGGCAGAAGTCTTGTGACATGGCTGGGGTCATAAGGGGTTGGGGCTGACGCTGGCATGGTTCCCCTTCCTGGCCCGTGCCCACCCCCTGTGGAGAGACCTGGCCTTCCCAGTTTCCAGCTGCCGGTGGAGCCTCCGTGCCTACTGTTCCCTGTGCTGGAATGTTCCCCCAGATTTCCACACAGCCTGCTCCCTCACTTCAGGCGCCCTCTTCATGCCCTGCTGGCCCCCAGCCTGTTCCCCCGATATGCATTCTCCCCTACTGGTCACAGCCCCTGTTACCACCTCCACTGGCACCATCTTGTACGTTTATCTGCTTCCTGCTGTCCTGTTAGCGAGGCCGTGAGCTCACAGGGCAGCACCTGGGCCAAGCCCCCCACGTGACCCCCAGCAGCCCTGCCCTGTCTCTGTGTGAAGACACTGGAGCTGGCCCCAGGCCTCAGGTCCCTGTCCGGGTGTATGTGGCGGGGGCTGGGCTCGGGGCGGCTGCACAGGCACTCTGGGGCCGGCGTAGGGCCTGGCAGACGATGTCCAGGAACCGCTAATCTGTTGTCTTGTTTTTTTTAGGTAAAGAAAAAAAAGTTCAAGCTGGACAAAGACAATGGGGTGACTCCTGGAGAGAAGATGCTCACAGTCCCCCATATCACGTGCGACCCCCCAAGAAGAGCGGCGGCTGGACCACTTCTCTGTCGACGGCTATGACAGTTCTGGTGAGAACCCCTCAGGCAGTTGGGGGCCGCGGGGCCGGGAAGGTCACTGCCTTTTTTGGGAGCCCGAGCAAGCCAGTGAGTTTCTCCCTTGGGCTGTGGTCTCTGACAACGAGGTATGAACAGACAGAGGGTGGAGCTTCTAGAAACTTCTGTAAACCTTCCAGGTGCCTTCCCCTCAGAGTCTTCCCAAGGAGGAGCTGGCCACGCCTTCTGTTGCGAGAGGAAGCCTGGGCAGGTGATGGGGTGGGTCGGCTCCATCCGGCTGTACTGAGGGAAGGGTGTGTTCCTGATTCCAGCTGCCTGGCTTCCTCCCAGCCGAGCCCACGGGCTCTGGTTGGAAAGTGGCTAGGGTGACCTCTGGGCCTACTGGCAGGGACGCCAGAGGGAAGGGGTTTGGGGATGGGGCCCTGGAGGAGCAGCACCAGGCCCGGGTAAAACGTGGGGGGCCTGACGGGACAGGCCCTTCTCATGCAGCCCAGGGGCCCCGAGTCTGTGCGTGATGGTGTGGCTCGGATCTGCGTCCCTCCTCTCACCCCTGCAGCGGGGGCTGGGATGAAGCTACCTTCTGCGGGACCTGACGATTGGATGGCAGACCTGTCTAGGGTTTAGATGTCCTCCATCCCTGGTGAGGGGTTTTACCCACGCTAACTCGTAAGCGTGGCTCTTTGACAGATGTGGAGAGCGAGGCCCTAGAGGCTGGGCTCGTGTGCTCCAGCCACACGGCGGGAATACAGCAGTGCCCGGTTGTGGCTCCCACGAGTGAGGCCCTGGAGGCTGGGCCCATGTGCTTCAGCCACACGGCAGGAACACAGCAGTGTCTGGTTGTGGCCCCCCCATGCCTCCCGCCAACTTCTGCTGTTCCCAGAAGTGCAGCTGGCTGAGCACAGACACAGCAGGTGACCTGTGGTGATGCCAGGGCATCAGCGCTTGGCCTCCCCACACTGCTCCAGGGCAGACCTGGCCTCCTGGCTGCATCAGGAGGCACACGTGATGCATCCGTCATCTCGGGACCAGTTTTGAGACAAACATCCTATAGGGCAGGACCGTGAACTGGGTAGCTCTACAGAGTGTGAGGGGCTGGAGACCTCCTGCCCACTGGCCACGGATGCCACGGATGCCCTTGAGAGTTAGGAGAGGTGGAAGGGACCCCACTTCTCCCTGGGAGCTCCAACTTCTCTTGCATGTGACTTCAGTGCCCACTTCTGGGGACTGTGATCCCAAACTGCCAAATTCTCTAGCAGCTCTCTTAAAACCAAATGTGAAGGATTCTGGCTTTTTCTGTCCTCTGAGCCCAGCGTGGGGTATTTGAGATAGCTGTGCTGCCACCAGGACAGGGGCGTGCACCTTGTCTTCCCAGGAGAAAACACAGCAAAGCCTGTTTGCTCCCTAGTACCTCGTGCAAAGGTGCCATCTGTGGCCCTGCTCGCTGCTTCCTCTGAGGCAGACATAGTAGTGACTGTGTTCTGATACAAAGATGGCACTTGCCCGATGCTGCACTGCAGCACCAATGCAGAGGCCCTGGCAAATGTTCGCAGAAGCCCCCGTCCCAGGGCGTGGTCCCCCTTGGAGGAAAAGGGCACCTGTTTTGAAAACACTTGGTTATCATGGTGCCAGAAAGCACTAGTTTAGGCCCCACATGAAACAGTGGCCTTGCCCTCCCAGCATGGGAGAGCCCTCATCTTCCAGGTGGTGGGGGGAGCACAGCATTTGAAGCCCACTCCCCTTTGACCACTTGCTGTTGTCCAGACAGACATCACGCACGTGGGCCTTGCATTGGTTCCTGCTTACTTTGTCTCTGCTGACCCGGTTTCTGCTCCTTGAAGTCTCAGCCCCCTTCTTCCATGATTCCAAGGCATGTCCCTCTAAGGAGGCTTGACCCCACCCTGGAGGGCCTGCTCCCCACTCTCTGCCTTCCATGCCCCATGGGAGGGCTCCATGTGGCCCAGTCCCTTGGAGGCTGGACCCCACTGTTCCGGACTCTGGGCTGTTGGAAGCC
pathogenic
170,850
Gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) variant at chromosome 11, position 2588814—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
pathogenic; ['Cardiac_arrhythmia', 'Long_QT_syndrome']
GGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCAGACCGCATGGAGGTGCTATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCGGAGCCACACTCTGCTGTCACCCAGCCCCAAACCCAAGAAGTCTGTGGTGGTGAGTAGCCCACCTGCCACCAGGGCAGGGCCTTCTTGCTAGCAGGTGGGGAGGCCGTGGGGGCCGCAGCACGAGGCTGGGATCTCACCATGCATTTGGCTTGGTACAGCCTGTGTCAGGGAGTCAGCATCGTTCGGGACACTGGGCCATACACCCGATGCTAGGTTCCTGCCATCCCAATGTCCCCCGACTTGGGGGTATGTAGGACCGGTCATTCCAGGGCCAGGGCATGAGAGCTCCAGAGATAGAGCTCTGGGAGCAGGACGGGCTGGAAAGAAGGCTCTTCAGAGGGCCTCAGGGTTGGGCTTTCCACACCGGGCGCAGTGGGTGGTGAGCAGTGGGCAGGGGGCCGCGCGCAGTGGGTGGTGGGAGGGGAGCAGCAGGGGAGGGAGGTGAGGCAGGGGTGCAGCGAAGGGGGTCTGGAGGTCACAGGGCAGTGGAGTTTGGCAGGCGCTGGGCAGAAGTCTTGTGACATGGCTGGGGTCATAAGGGGTTGGGGCTGACGCTGGCATGGTTCCCCTTCCTGGCCCGTGCCCACCCCCTGTGGAGAGACCTGGCCTTCCCAGTTTCCAGCTGCCGGTGGAGCCTCCGTGCCTACTGTTCCCTGTGCTGGAATGTTCCCCCAGATTTCCACACAGCCTGCTCCCTCACTTCAGGCGCCCTCTTCATGCCCTGCTGGCCCCCAGCCTGTTCCCCCGATATGCATTCTCCCCTACTGGTCACAGCCCCTGTTACCACCTCCACTGGCACCATCTTGTACGTTTATCTGCTTCCTGCTGTCCTGTTAGCGAGGCCGTGAGCTCACAGGGCAGCACCTGGGCCAAGCCCCCCACGTGACCCCCAGCAGCCCTGCCCTGTCTCTGTGTGAAGACACTGGAGCTGGCCCCAGGCCTCAGGTCCCTGTCCGGGTGTATGTGGCGGGGGCTGGGCTCGGGGCGGCTGCACAGGCACTCTGGGGCCGGCGTAGGGCCTGGCAGACGATGTCCAGGAACCGCTAATCTGTTGTCTTGTTTTTTTTAGGTAAAGAAAAAAAAGTTCAAGCTGGACAAAGACAATGGGGTGACTCCTGGAGAGAAGATGCTCACAGTCCCCCATATCACGTGCGACCCCCCAGAAGAGCGGCGGCTGGACCACTTCTCTGTCGACGGCTATGACAGTTCTGGTGAGAACCCCTCAGGCAGTTGGGGGCCGCGGGGCCGGGAAGGTCACTGCCTTTTTTGGGAGCCCGAGCAAGCCAGTGAGTTTCTCCCTTGGGCTGTGGTCTCTGACAACGAGGTATGAACAGACAGAGGGTGGAGCTTCTAGAAACTTCTGTAAACCTTCCAGGTGCCTTCCCCTCAGAGTCTTCCCAAGGAGGAGCTGGCCACGCCTTCTGTTGCGAGAGGAAGCCTGGGCAGGTGATGGGGTGGGTCGGCTCCATCCGGCTGTACTGAGGGAAGGGTGTGTTCCTGATTCCAGCTGCCTGGCTTCCTCCCAGCCGAGCCCACGGGCTCTGGTTGGAAAGTGGCTAGGGTGACCTCTGGGCCTACTGGCAGGGACGCCAGAGGGAAGGGGTTTGGGGATGGGGCCCTGGAGGAGCAGCACCAGGCCCGGGTAAAACGTGGGGGGCCTGACGGGACAGGCCCTTCTCATGCAGCCCAGGGGCCCCGAGTCTGTGCGTGATGGTGTGGCTCGGATCTGCGTCCCTCCTCTCACCCCTGCAGCGGGGGCTGGGATGAAGCTACCTTCTGCGGGACCTGACGATTGGATGGCAGACCTGTCTAGGGTTTAGATGTCCTCCATCCCTGGTGAGGGGTTTTACCCACGCTAACTCGTAAGCGTGGCTCTTTGACAGATGTGGAGAGCGAGGCCCTAGAGGCTGGGCTCGTGTGCTCCAGCCACACGGCGGGAATACAGCAGTGCCCGGTTGTGGCTCCCACGAGTGAGGCCCTGGAGGCTGGGCCCATGTGCTTCAGCCACACGGCAGGAACACAGCAGTGTCTGGTTGTGGCCCCCCCATGCCTCCCGCCAACTTCTGCTGTTCCCAGAAGTGCAGCTGGCTGAGCACAGACACAGCAGGTGACCTGTGGTGATGCCAGGGCATCAGCGCTTGGCCTCCCCACACTGCTCCAGGGCAGACCTGGCCTCCTGGCTGCATCAGGAGGCACACGTGATGCATCCGTCATCTCGGGACCAGTTTTGAGACAAACATCCTATAGGGCAGGACCGTGAACTGGGTAGCTCTACAGAGTGTGAGGGGCTGGAGACCTCCTGCCCACTGGCCACGGATGCCACGGATGCCCTTGAGAGTTAGGAGAGGTGGAAGGGACCCCACTTCTCCCTGGGAGCTCCAACTTCTCTTGCATGTGACTTCAGTGCCCACTTCTGGGGACTGTGATCCCAAACTGCCAAATTCTCTAGCAGCTCTCTTAAAACCAAATGTGAAGGATTCTGGCTTTTTCTGTCCTCTGAGCCCAGCGTGGGGTATTTGAGATAGCTGTGCTGCCACCAGGACAGGGGCGTGCACCTTGTCTTCCCAGGAGAAAACACAGCAAAGCCTGTTTGCTCCCTAGTACCTCGTGCAAAGGTGCCATCTGTGGCCCTGCTCGCTGCTTCCTCTGAGGCAGACATAGTAGTGACTGTGTTCTGATACAAAGATGGCACTTGCCCGATGCTGCACTGCAGCACCAATGCAGAGGCCCTGGCAAATGTTCGCAGAAGCCCCCGTCCCAGGGCGTGGTCCCCCTTGGAGGAAAAGGGCACCTGTTTTGAAAACACTTGGTTATCATGGTGCCAGAAAGCACTAGTTTAGGCCCCACATGAAACAGTGGCCTTGCCCTCCCAGCATGGGAGAGCCCTCATCTTCCAGGTGGTGGGGGGAGCACAGCATTTGAAGCCCACTCCCCTTTGACCACTTGCTGTTGTCCAGACAGACATCACGCACGTGGGCCTTGCATTGGTTCCTGCTTACTTTGTCTCTGCTGACCCGGTTTCTGCTCCTTGAAGTCTCAGCCCCCTTCTTCCATGATTCCAAGGCATGTCCCTCTAAGGAGGCTTGACCCCACCCTGGAGGGCCTGCTCCCCACTCTCTGCCTTCCATGCCCCATGGGAGGGCTCCATGTGGCCCAGTCCCTTGGAGGCTGGACCCCACTGTTCCGGACTCTGGGCTGTTGGAAGCCAGGCCCTGCCT
GGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCAGACCGCATGGAGGTGCTATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCGGAGCCACACTCTGCTGTCACCCAGCCCCAAACCCAAGAAGTCTGTGGTGGTGAGTAGCCCACCTGCCACCAGGGCAGGGCCTTCTTGCTAGCAGGTGGGGAGGCCGTGGGGGCCGCAGCACGAGGCTGGGATCTCACCATGCATTTGGCTTGGTACAGCCTGTGTCAGGGAGTCAGCATCGTTCGGGACACTGGGCCATACACCCGATGCTAGGTTCCTGCCATCCCAATGTCCCCCGACTTGGGGGTATGTAGGACCGGTCATTCCAGGGCCAGGGCATGAGAGCTCCAGAGATAGAGCTCTGGGAGCAGGACGGGCTGGAAAGAAGGCTCTTCAGAGGGCCTCAGGGTTGGGCTTTCCACACCGGGCGCAGTGGGTGGTGAGCAGTGGGCAGGGGGCCGCGCGCAGTGGGTGGTGGGAGGGGAGCAGCAGGGGAGGGAGGTGAGGCAGGGGTGCAGCGAAGGGGGTCTGGAGGTCACAGGGCAGTGGAGTTTGGCAGGCGCTGGGCAGAAGTCTTGTGACATGGCTGGGGTCATAAGGGGTTGGGGCTGACGCTGGCATGGTTCCCCTTCCTGGCCCGTGCCCACCCCCTGTGGAGAGACCTGGCCTTCCCAGTTTCCAGCTGCCGGTGGAGCCTCCGTGCCTACTGTTCCCTGTGCTGGAATGTTCCCCCAGATTTCCACACAGCCTGCTCCCTCACTTCAGGCGCCCTCTTCATGCCCTGCTGGCCCCCAGCCTGTTCCCCCGATATGCATTCTCCCCTACTGGTCACAGCCCCTGTTACCACCTCCACTGGCACCATCTTGTACGTTTATCTGCTTCCTGCTGTCCTGTTAGCGAGGCCGTGAGCTCACAGGGCAGCACCTGGGCCAAGCCCCCCACGTGACCCCCAGCAGCCCTGCCCTGTCTCTGTGTGAAGACACTGGAGCTGGCCCCAGGCCTCAGGTCCCTGTCCGGGTGTATGTGGCGGGGGCTGGGCTCGGGGCGGCTGCACAGGCACTCTGGGGCCGGCGTAGGGCCTGGCAGACGATGTCCAGGAACCGCTAATCTGTTGTCTTGTTTTTTTTAGGTAAAGAAAAAAAAGTTCAAGCTGGACAAAGACAATGGGGTGACTCCTGGAGAGAAGATGCTCACAGTCCCCCATATCACGTGCGACCCCCCAGAAGAGCGGGGCTGGACCACTTCTCTGTCGACGGCTATGACAGTTCTGGTGAGAACCCCTCAGGCAGTTGGGGGCCGCGGGGCCGGGAAGGTCACTGCCTTTTTTGGGAGCCCGAGCAAGCCAGTGAGTTTCTCCCTTGGGCTGTGGTCTCTGACAACGAGGTATGAACAGACAGAGGGTGGAGCTTCTAGAAACTTCTGTAAACCTTCCAGGTGCCTTCCCCTCAGAGTCTTCCCAAGGAGGAGCTGGCCACGCCTTCTGTTGCGAGAGGAAGCCTGGGCAGGTGATGGGGTGGGTCGGCTCCATCCGGCTGTACTGAGGGAAGGGTGTGTTCCTGATTCCAGCTGCCTGGCTTCCTCCCAGCCGAGCCCACGGGCTCTGGTTGGAAAGTGGCTAGGGTGACCTCTGGGCCTACTGGCAGGGACGCCAGAGGGAAGGGGTTTGGGGATGGGGCCCTGGAGGAGCAGCACCAGGCCCGGGTAAAACGTGGGGGGCCTGACGGGACAGGCCCTTCTCATGCAGCCCAGGGGCCCCGAGTCTGTGCGTGATGGTGTGGCTCGGATCTGCGTCCCTCCTCTCACCCCTGCAGCGGGGGCTGGGATGAAGCTACCTTCTGCGGGACCTGACGATTGGATGGCAGACCTGTCTAGGGTTTAGATGTCCTCCATCCCTGGTGAGGGGTTTTACCCACGCTAACTCGTAAGCGTGGCTCTTTGACAGATGTGGAGAGCGAGGCCCTAGAGGCTGGGCTCGTGTGCTCCAGCCACACGGCGGGAATACAGCAGTGCCCGGTTGTGGCTCCCACGAGTGAGGCCCTGGAGGCTGGGCCCATGTGCTTCAGCCACACGGCAGGAACACAGCAGTGTCTGGTTGTGGCCCCCCCATGCCTCCCGCCAACTTCTGCTGTTCCCAGAAGTGCAGCTGGCTGAGCACAGACACAGCAGGTGACCTGTGGTGATGCCAGGGCATCAGCGCTTGGCCTCCCCACACTGCTCCAGGGCAGACCTGGCCTCCTGGCTGCATCAGGAGGCACACGTGATGCATCCGTCATCTCGGGACCAGTTTTGAGACAAACATCCTATAGGGCAGGACCGTGAACTGGGTAGCTCTACAGAGTGTGAGGGGCTGGAGACCTCCTGCCCACTGGCCACGGATGCCACGGATGCCCTTGAGAGTTAGGAGAGGTGGAAGGGACCCCACTTCTCCCTGGGAGCTCCAACTTCTCTTGCATGTGACTTCAGTGCCCACTTCTGGGGACTGTGATCCCAAACTGCCAAATTCTCTAGCAGCTCTCTTAAAACCAAATGTGAAGGATTCTGGCTTTTTCTGTCCTCTGAGCCCAGCGTGGGGTATTTGAGATAGCTGTGCTGCCACCAGGACAGGGGCGTGCACCTTGTCTTCCCAGGAGAAAACACAGCAAAGCCTGTTTGCTCCCTAGTACCTCGTGCAAAGGTGCCATCTGTGGCCCTGCTCGCTGCTTCCTCTGAGGCAGACATAGTAGTGACTGTGTTCTGATACAAAGATGGCACTTGCCCGATGCTGCACTGCAGCACCAATGCAGAGGCCCTGGCAAATGTTCGCAGAAGCCCCCGTCCCAGGGCGTGGTCCCCCTTGGAGGAAAAGGGCACCTGTTTTGAAAACACTTGGTTATCATGGTGCCAGAAAGCACTAGTTTAGGCCCCACATGAAACAGTGGCCTTGCCCTCCCAGCATGGGAGAGCCCTCATCTTCCAGGTGGTGGGGGGAGCACAGCATTTGAAGCCCACTCCCCTTTGACCACTTGCTGTTGTCCAGACAGACATCACGCACGTGGGCCTTGCATTGGTTCCTGCTTACTTTGTCTCTGCTGACCCGGTTTCTGCTCCTTGAAGTCTCAGCCCCCTTCTTCCATGATTCCAAGGCATGTCCCTCTAAGGAGGCTTGACCCCACCCTGGAGGGCCTGCTCCCCACTCTCTGCCTTCCATGCCCCATGGGAGGGCTCCATGTGGCCCAGTCCCTTGGAGGCTGGACCCCACTGTTCCGGACTCTGGGCTGTTGGAAGCCAGGCCCTGCCTN
pathogenic
170,852
Clinical significance of chromosome 11, position 2588815, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1): benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype']
GGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCAGACCGCATGGAGGTGCTATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCGGAGCCACACTCTGCTGTCACCCAGCCCCAAACCCAAGAAGTCTGTGGTGGTGAGTAGCCCACCTGCCACCAGGGCAGGGCCTTCTTGCTAGCAGGTGGGGAGGCCGTGGGGGCCGCAGCACGAGGCTGGGATCTCACCATGCATTTGGCTTGGTACAGCCTGTGTCAGGGAGTCAGCATCGTTCGGGACACTGGGCCATACACCCGATGCTAGGTTCCTGCCATCCCAATGTCCCCCGACTTGGGGGTATGTAGGACCGGTCATTCCAGGGCCAGGGCATGAGAGCTCCAGAGATAGAGCTCTGGGAGCAGGACGGGCTGGAAAGAAGGCTCTTCAGAGGGCCTCAGGGTTGGGCTTTCCACACCGGGCGCAGTGGGTGGTGAGCAGTGGGCAGGGGGCCGCGCGCAGTGGGTGGTGGGAGGGGAGCAGCAGGGGAGGGAGGTGAGGCAGGGGTGCAGCGAAGGGGGTCTGGAGGTCACAGGGCAGTGGAGTTTGGCAGGCGCTGGGCAGAAGTCTTGTGACATGGCTGGGGTCATAAGGGGTTGGGGCTGACGCTGGCATGGTTCCCCTTCCTGGCCCGTGCCCACCCCCTGTGGAGAGACCTGGCCTTCCCAGTTTCCAGCTGCCGGTGGAGCCTCCGTGCCTACTGTTCCCTGTGCTGGAATGTTCCCCCAGATTTCCACACAGCCTGCTCCCTCACTTCAGGCGCCCTCTTCATGCCCTGCTGGCCCCCAGCCTGTTCCCCCGATATGCATTCTCCCCTACTGGTCACAGCCCCTGTTACCACCTCCACTGGCACCATCTTGTACGTTTATCTGCTTCCTGCTGTCCTGTTAGCGAGGCCGTGAGCTCACAGGGCAGCACCTGGGCCAAGCCCCCCACGTGACCCCCAGCAGCCCTGCCCTGTCTCTGTGTGAAGACACTGGAGCTGGCCCCAGGCCTCAGGTCCCTGTCCGGGTGTATGTGGCGGGGGCTGGGCTCGGGGCGGCTGCACAGGCACTCTGGGGCCGGCGTAGGGCCTGGCAGACGATGTCCAGGAACCGCTAATCTGTTGTCTTGTTTTTTTTAGGTAAAGAAAAAAAAGTTCAAGCTGGACAAAGACAATGGGGTGACTCCTGGAGAGAAGATGCTCACAGTCCCCCATATCACGTGCGACCCCCCAGAAGAGCGGCGGCTGGACCACTTCTCTGTCGACGGCTATGACAGTTCTGGTGAGAACCCCTCAGGCAGTTGGGGGCCGCGGGGCCGGGAAGGTCACTGCCTTTTTTGGGAGCCCGAGCAAGCCAGTGAGTTTCTCCCTTGGGCTGTGGTCTCTGACAACGAGGTATGAACAGACAGAGGGTGGAGCTTCTAGAAACTTCTGTAAACCTTCCAGGTGCCTTCCCCTCAGAGTCTTCCCAAGGAGGAGCTGGCCACGCCTTCTGTTGCGAGAGGAAGCCTGGGCAGGTGATGGGGTGGGTCGGCTCCATCCGGCTGTACTGAGGGAAGGGTGTGTTCCTGATTCCAGCTGCCTGGCTTCCTCCCAGCCGAGCCCACGGGCTCTGGTTGGAAAGTGGCTAGGGTGACCTCTGGGCCTACTGGCAGGGACGCCAGAGGGAAGGGGTTTGGGGATGGGGCCCTGGAGGAGCAGCACCAGGCCCGGGTAAAACGTGGGGGGCCTGACGGGACAGGCCCTTCTCATGCAGCCCAGGGGCCCCGAGTCTGTGCGTGATGGTGTGGCTCGGATCTGCGTCCCTCCTCTCACCCCTGCAGCGGGGGCTGGGATGAAGCTACCTTCTGCGGGACCTGACGATTGGATGGCAGACCTGTCTAGGGTTTAGATGTCCTCCATCCCTGGTGAGGGGTTTTACCCACGCTAACTCGTAAGCGTGGCTCTTTGACAGATGTGGAGAGCGAGGCCCTAGAGGCTGGGCTCGTGTGCTCCAGCCACACGGCGGGAATACAGCAGTGCCCGGTTGTGGCTCCCACGAGTGAGGCCCTGGAGGCTGGGCCCATGTGCTTCAGCCACACGGCAGGAACACAGCAGTGTCTGGTTGTGGCCCCCCCATGCCTCCCGCCAACTTCTGCTGTTCCCAGAAGTGCAGCTGGCTGAGCACAGACACAGCAGGTGACCTGTGGTGATGCCAGGGCATCAGCGCTTGGCCTCCCCACACTGCTCCAGGGCAGACCTGGCCTCCTGGCTGCATCAGGAGGCACACGTGATGCATCCGTCATCTCGGGACCAGTTTTGAGACAAACATCCTATAGGGCAGGACCGTGAACTGGGTAGCTCTACAGAGTGTGAGGGGCTGGAGACCTCCTGCCCACTGGCCACGGATGCCACGGATGCCCTTGAGAGTTAGGAGAGGTGGAAGGGACCCCACTTCTCCCTGGGAGCTCCAACTTCTCTTGCATGTGACTTCAGTGCCCACTTCTGGGGACTGTGATCCCAAACTGCCAAATTCTCTAGCAGCTCTCTTAAAACCAAATGTGAAGGATTCTGGCTTTTTCTGTCCTCTGAGCCCAGCGTGGGGTATTTGAGATAGCTGTGCTGCCACCAGGACAGGGGCGTGCACCTTGTCTTCCCAGGAGAAAACACAGCAAAGCCTGTTTGCTCCCTAGTACCTCGTGCAAAGGTGCCATCTGTGGCCCTGCTCGCTGCTTCCTCTGAGGCAGACATAGTAGTGACTGTGTTCTGATACAAAGATGGCACTTGCCCGATGCTGCACTGCAGCACCAATGCAGAGGCCCTGGCAAATGTTCGCAGAAGCCCCCGTCCCAGGGCGTGGTCCCCCTTGGAGGAAAAGGGCACCTGTTTTGAAAACACTTGGTTATCATGGTGCCAGAAAGCACTAGTTTAGGCCCCACATGAAACAGTGGCCTTGCCCTCCCAGCATGGGAGAGCCCTCATCTTCCAGGTGGTGGGGGGAGCACAGCATTTGAAGCCCACTCCCCTTTGACCACTTGCTGTTGTCCAGACAGACATCACGCACGTGGGCCTTGCATTGGTTCCTGCTTACTTTGTCTCTGCTGACCCGGTTTCTGCTCCTTGAAGTCTCAGCCCCCTTCTTCCATGATTCCAAGGCATGTCCCTCTAAGGAGGCTTGACCCCACCCTGGAGGGCCTGCTCCCCACTCTCTGCCTTCCATGCCCCATGGGAGGGCTCCATGTGGCCCAGTCCCTTGGAGGCTGGACCCCACTGTTCCGGACTCTGGGCTGTTGGAAGCCAGGCCCTGCCTC
GGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCAGACCGCATGGAGGTGCTATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCGGAGCCACACTCTGCTGTCACCCAGCCCCAAACCCAAGAAGTCTGTGGTGGTGAGTAGCCCACCTGCCACCAGGGCAGGGCCTTCTTGCTAGCAGGTGGGGAGGCCGTGGGGGCCGCAGCACGAGGCTGGGATCTCACCATGCATTTGGCTTGGTACAGCCTGTGTCAGGGAGTCAGCATCGTTCGGGACACTGGGCCATACACCCGATGCTAGGTTCCTGCCATCCCAATGTCCCCCGACTTGGGGGTATGTAGGACCGGTCATTCCAGGGCCAGGGCATGAGAGCTCCAGAGATAGAGCTCTGGGAGCAGGACGGGCTGGAAAGAAGGCTCTTCAGAGGGCCTCAGGGTTGGGCTTTCCACACCGGGCGCAGTGGGTGGTGAGCAGTGGGCAGGGGGCCGCGCGCAGTGGGTGGTGGGAGGGGAGCAGCAGGGGAGGGAGGTGAGGCAGGGGTGCAGCGAAGGGGGTCTGGAGGTCACAGGGCAGTGGAGTTTGGCAGGCGCTGGGCAGAAGTCTTGTGACATGGCTGGGGTCATAAGGGGTTGGGGCTGACGCTGGCATGGTTCCCCTTCCTGGCCCGTGCCCACCCCCTGTGGAGAGACCTGGCCTTCCCAGTTTCCAGCTGCCGGTGGAGCCTCCGTGCCTACTGTTCCCTGTGCTGGAATGTTCCCCCAGATTTCCACACAGCCTGCTCCCTCACTTCAGGCGCCCTCTTCATGCCCTGCTGGCCCCCAGCCTGTTCCCCCGATATGCATTCTCCCCTACTGGTCACAGCCCCTGTTACCACCTCCACTGGCACCATCTTGTACGTTTATCTGCTTCCTGCTGTCCTGTTAGCGAGGCCGTGAGCTCACAGGGCAGCACCTGGGCCAAGCCCCCCACGTGACCCCCAGCAGCCCTGCCCTGTCTCTGTGTGAAGACACTGGAGCTGGCCCCAGGCCTCAGGTCCCTGTCCGGGTGTATGTGGCGGGGGCTGGGCTCGGGGCGGCTGCACAGGCACTCTGGGGCCGGCGTAGGGCCTGGCAGACGATGTCCAGGAACCGCTAATCTGTTGTCTTGTTTTTTTTAGGTAAAGAAAAAAAAGTTCAAGCTGGACAAAGACAATGGGGTGACTCCTGGAGAGAAGATGCTCACAGTCCCCCATATCACGTGCGACCCCCCAGAAGAGCGGCGCTGGACCACTTCTCTGTCGACGGCTATGACAGTTCTGGTGAGAACCCCTCAGGCAGTTGGGGGCCGCGGGGCCGGGAAGGTCACTGCCTTTTTTGGGAGCCCGAGCAAGCCAGTGAGTTTCTCCCTTGGGCTGTGGTCTCTGACAACGAGGTATGAACAGACAGAGGGTGGAGCTTCTAGAAACTTCTGTAAACCTTCCAGGTGCCTTCCCCTCAGAGTCTTCCCAAGGAGGAGCTGGCCACGCCTTCTGTTGCGAGAGGAAGCCTGGGCAGGTGATGGGGTGGGTCGGCTCCATCCGGCTGTACTGAGGGAAGGGTGTGTTCCTGATTCCAGCTGCCTGGCTTCCTCCCAGCCGAGCCCACGGGCTCTGGTTGGAAAGTGGCTAGGGTGACCTCTGGGCCTACTGGCAGGGACGCCAGAGGGAAGGGGTTTGGGGATGGGGCCCTGGAGGAGCAGCACCAGGCCCGGGTAAAACGTGGGGGGCCTGACGGGACAGGCCCTTCTCATGCAGCCCAGGGGCCCCGAGTCTGTGCGTGATGGTGTGGCTCGGATCTGCGTCCCTCCTCTCACCCCTGCAGCGGGGGCTGGGATGAAGCTACCTTCTGCGGGACCTGACGATTGGATGGCAGACCTGTCTAGGGTTTAGATGTCCTCCATCCCTGGTGAGGGGTTTTACCCACGCTAACTCGTAAGCGTGGCTCTTTGACAGATGTGGAGAGCGAGGCCCTAGAGGCTGGGCTCGTGTGCTCCAGCCACACGGCGGGAATACAGCAGTGCCCGGTTGTGGCTCCCACGAGTGAGGCCCTGGAGGCTGGGCCCATGTGCTTCAGCCACACGGCAGGAACACAGCAGTGTCTGGTTGTGGCCCCCCCATGCCTCCCGCCAACTTCTGCTGTTCCCAGAAGTGCAGCTGGCTGAGCACAGACACAGCAGGTGACCTGTGGTGATGCCAGGGCATCAGCGCTTGGCCTCCCCACACTGCTCCAGGGCAGACCTGGCCTCCTGGCTGCATCAGGAGGCACACGTGATGCATCCGTCATCTCGGGACCAGTTTTGAGACAAACATCCTATAGGGCAGGACCGTGAACTGGGTAGCTCTACAGAGTGTGAGGGGCTGGAGACCTCCTGCCCACTGGCCACGGATGCCACGGATGCCCTTGAGAGTTAGGAGAGGTGGAAGGGACCCCACTTCTCCCTGGGAGCTCCAACTTCTCTTGCATGTGACTTCAGTGCCCACTTCTGGGGACTGTGATCCCAAACTGCCAAATTCTCTAGCAGCTCTCTTAAAACCAAATGTGAAGGATTCTGGCTTTTTCTGTCCTCTGAGCCCAGCGTGGGGTATTTGAGATAGCTGTGCTGCCACCAGGACAGGGGCGTGCACCTTGTCTTCCCAGGAGAAAACACAGCAAAGCCTGTTTGCTCCCTAGTACCTCGTGCAAAGGTGCCATCTGTGGCCCTGCTCGCTGCTTCCTCTGAGGCAGACATAGTAGTGACTGTGTTCTGATACAAAGATGGCACTTGCCCGATGCTGCACTGCAGCACCAATGCAGAGGCCCTGGCAAATGTTCGCAGAAGCCCCCGTCCCAGGGCGTGGTCCCCCTTGGAGGAAAAGGGCACCTGTTTTGAAAACACTTGGTTATCATGGTGCCAGAAAGCACTAGTTTAGGCCCCACATGAAACAGTGGCCTTGCCCTCCCAGCATGGGAGAGCCCTCATCTTCCAGGTGGTGGGGGGAGCACAGCATTTGAAGCCCACTCCCCTTTGACCACTTGCTGTTGTCCAGACAGACATCACGCACGTGGGCCTTGCATTGGTTCCTGCTTACTTTGTCTCTGCTGACCCGGTTTCTGCTCCTTGAAGTCTCAGCCCCCTTCTTCCATGATTCCAAGGCATGTCCCTCTAAGGAGGCTTGACCCCACCCTGGAGGGCCTGCTCCCCACTCTCTGCCTTCCATGCCCCATGGGAGGGCTCCATGTGGCCCAGTCCCTTGGAGGCTGGACCCCACTGTTCCGGACTCTGGGCTGTTGGAAGCCAGGCCCTGCCTCN
pathogenic
170,853
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 2661944, gene KCNQ1. What disease(s) is it linked to if pathogenic?
benign
TTTATTGTCAAGTTGTAAGCATTCTTTATATATTCTGAGTGCAAGTCCTTGACCTGATAGGTGATATGCAAATATTCTTTCCAAGTCTGTGCTTTGTCTTTTCATTCCATTAGCAGTGTCTGTTGCACAGCAAAAGCTTTTAATTTTGATAAAGTCCAATTTGTTGATTCTTTTTCTCTTACGAGTTAAACTTTTGGTTTCGTATTTCAGAATTCACTGCCAAATCCAAGGTCCTGGAGATTTTCTCTTATGTTTTCTTCAAGATATTTTATGGTTTTATGTTTTATTTTAGATTTTTTTTCAGTAAGTTTGTATGTAGTACCCTTTAAATTTTCATTTTCTAATTGTTGATCATCTGTCCTATCAGGCATAGATACTAAATGCATTAAAACTTTTACACACATACATATGTATACATACAACACATTCAAATAGTGAAATTAGGAATAAATTTAAGAGAGAATTGTATTACGCTGATGTGGGAAAACCTTCCTTTTTTATAAAGCAAAAGATGTATCACTTTAAAAACATAAAACATTTTCTAGGATAAAAGCAACATAATTCAGGTGAAAAAACAGACTGGGGAAGCTATCTATGCCTCATATAACAAGGAGTTAATGTCTGTAATGTATAGAAAATTCCTACAAAGTGATAAGCAAAAGTGAGCAAAGGACATGAACAGGCAATTCTGCAAGAGGAAACCCAAACAGATGCCAAGCCCATAAAAGGTATTCAACACAGATGGAAATAACAGCAATGCCTCAGTTTTCATCCATGCTTGATAGTCCCTGCAAAAGGTGCTGACAACCTTCATTCGGGCTTCATTCAACACTTCATTCAGGCATGGATGTGGGAAAGCTGGGGGAGCCTGAATTGCTACAACTTCTTGGGAAAGCAATCTAGCAACATTTATTAAAATTACTAAGGACACACCCTCTCACCCTGCTCCAGTATGTCAGCTTTTAAGAATAAAGATGAATATGGCATCATAGTCTGAATAATTAAGCAGCTTAAAACTATAAGAGCCTGAATGTCCATGATATACAGAATGGTTAGCTGTGGCCAATCTAAACTGTGGACTATTATGTAATGACTAAAATAATTAAATCCATGCCTATATACCTAGAGAAAAATGAAATGAGCTTATGTTACAGAGTGACAGGAACAGAGTCACAGTGACATCCCATGTGCATAAAAGCAACTCCCACCTGGCATCTGCTGCTCGGATGAGCAGAGAGGGTGGGCTAGGGATCTAGTTGGCAGTTAACACTGATGACCTTGGGGGAGGAAAGCCATTGTGAATCTTTGAATTATTCCACTTCTCACAGATGAGTACTTAATCCTTTTGCAATAAAATATTTAAATGAAGACAAATATAAGCCAAGAGCAAATACTGATAGTGTCAACAGAGAGTGGGGAGTGATAAGGATCAGTATCCTGAGCTCCTGTGTCAAAGTTGCAGAGGTGGGCCCAGGAATCATAATGTGAAGCCAGCTGTTGGAGGGACTCCTGTGCCTCATTGGGGGTACAACTGGTTGATGTAGCATCGTGTTTTGAGGAAGGAGTTCTGTGGCTGCCCCCACCTCCCAGGCTTGCCATTCCTCATGGGTCAGAGGTCCTATCACCCCATCTTTCCTGACCCACTACTCTGTCAATGTATGAGTGTGACAATGTATGGTGGTGGGAGCTGTTGTCCCTTACCAGGCCTGTGCCTGTCACCTCTGTTTTATTCTTGACCCAAGTGTCAGTTGTGAACATGGGAAGAGGCCCAGAACCTGAGGTGGGGAGAGTCTTGGACACCTGAGCACAGCCCCAGGCACAGTTACCACTCCGAAGATGATTCACTGGCCTTTATTCTCCTCAGACACTGAGGTGTCAGGCACTTTGGGGCCATCTTAAACACCCACCCACCCCAACACCCAACTATAAAACTGATTGTCAGGGCTGGAGCTTCCAGGCACAAGCTCCACTCCTCACCTGGCCCTGGGAGCTCACAGGCCTGGCTCCACAGCACTGGCAGGTTGGGTGGGAGGCCTAACGTGCTGTCCCCACACTTTCTCCTCAGTAAGGAAGAGCCCAACACTGCTGGAAGTGAGCATGCCCCATTTCATGAGAACCAACAGCTTCGCCGAGGACCTGGACCTGGAAGGGGAGACTCTGCTGACACCCATCACCCACATCTCACAGTGAGTGCCTACATGTGCGTGAAGGGCTGGGCTGGAGGGGACTGGAGCTCAAGGAGTCAGACTTGGTGCTGGGGAAGCCTTGCTCTCTGGCCAGAGTGCTATCTACTCGCCTAGTGCCCACCACTTGCCGTCTGCCTGGCCCCAACACGGAGGCACCAGGCAAGAGAGGAGAGCAAGGGCACTTCCCACTGAGCCTGGGAACATGATCCTCTTGTTTTGACTTATGGAAAACCAGACTGATCATTTTCCACTTGTTTTCATGCTTTGAGAGTCTGAGATTGTTTTTCTCTCCCCCAGCCCCCTCCCCTGCCCCCCAAAAAAGAGACGACTTTGTTTTTTAGCATTTCCCCATGGAACCCTGGCCAAAGCCATGGGGCAGATGCCGGGTGCAGTCTGCCAGTTGCTGCTGCTGTCCTCAGGGGCTCCTTCAGGTGGAGGAAATGGCTGATTTTCCACGCCTTCCAGTTGGCCTTCCCCTGAGGCACAGCTGGCCTGGGATGCATGCCCGTCCTCCCCCGCCGTCACGGCATGGCCAGGCCAATCCCCGGTGCCCGGCCACGGTGTGATTCCCCTGCGACATGTGACTCCCCGCTGGGGTGCCCAGCGGTGACAGCCGTGCAGCGGGGTCAGTGGGGCACCCAAGTCCATTCTGGCCACAGTCCCATTCTGGCTGCTAACCCGTTGGGGATTCCCCTTGATAAATGTCTTTGTGTCAAGATCTGTGAGTGACACTCGCGGCCCTTCTGAGGGTCACTTGTGGAAACTCTCCTTCTCTCTACCAACATTTTTCTAAAGGGTGTTTTGTTCTTTGGACTCTCTGGGGGTCAGGAGGTTGTCCTGAGCCATGTGTGTCTTTGTCGTAGTGAGGCCCTGGGCCTCCTGCCTTTGCAGCCAGCCAGGTGCAAGGCCTGGCCTTGCAAATCACTGAGGAAATCGGGACCCATGGTGCTGGGGGCTGCAGGTGTAACCAGAGAACTGGCAGGGTTGGGTAGCCAGAATGAGGCCACCTCCAGGGAAGGAGTGGCTATCTTAAGGGGTAATTATGATCAGACAGGACCTGCCCACTGTCTTTCCAGGCCCCCCCAGTTCACAGAGAGGTTGGCAGTACCTCATGGTGGGTAGGGTGTGAAGAGGCTCCAAGGGAGCCAGCAGATCACTGGAAAGCAGGGGTGACTAGTCATGGACACCCTGAGAATAGGGCTCTGAGCTTCTGGGCCCCTCCTGGCTGGGTAAAAAGGCAGGAGCAGAGGTGTGAGCAGGCTGGTAGCCAGATGGGCTGCCCAGGTACAGGTCAGCACCAGAAGGCAGAATGATGGCTTACACTGTGGCCAAGGCCTGTACCAAGTCCTGGATATGATGGACCTCCAAAGTGATCAGTGTTAGTTTAGTGGCTCATGTTGTGTGCAATACAGGTGGCAGTGCCTGTATTGCCTCTTGGCTGTCCCCTCAGAGAGGGGACTGTCCCTTCTCATCCTTCTGGCTGCTTGCTTCTCCTGTTGGAGCTCTCGCTCACCTTGGTTCTCTTGGTCACGGACCAGCATCCAGACATGCAAAAAGTCCTACTGGGAGGAGAGGGCCATCACCCACAGTCCATCTAGCTGGGCAGCCAGGCCTTACCAACTCTTGGGTCTTGCAAGGCCCCTGCAGGTGAAGGTGGTGAGAGACCAGGCACTTATGTGGATCACAGCCAAACTTGCAGCTGCCCAGTAAATCACCACTATGGGGGTGAGGGCTGCCAGTGCTGGTATCAGCACATGCCAAGCTCCCTGGAGCCAGAGGTTACCCACCTGCCCAAGGGTGACCCCAAGCCAGTGTGGCTGTGTCATCTAGGACACTGGGCTGTTTCTTGTTCCACTCCAGGATGACAGGGCCTGAGAGACCTGAACATCCATCCCCAAGCTCTCTGCCCA
TTTATTGTCAAGTTGTAAGCATTCTTTATATATTCTGAGTGCAAGTCCTTGACCTGATAGGTGATATGCAAATATTCTTTCCAAGTCTGTGCTTTGTCTTTTCATTCCATTAGCAGTGTCTGTTGCACAGCAAAAGCTTTTAATTTTGATAAAGTCCAATTTGTTGATTCTTTTTCTCTTACGAGTTAAACTTTTGGTTTCGTATTTCAGAATTCACTGCCAAATCCAAGGTCCTGGAGATTTTCTCTTATGTTTTCTTCAAGATATTTTATGGTTTTATGTTTTATTTTAGATTTTTTTTCAGTAAGTTTGTATGTAGTACCCTTTAAATTTTCATTTTCTAATTGTTGATCATCTGTCCTATCAGGCATAGATACTAAATGCATTAAAACTTTTACACACATACATATGTATACATACAACACATTCAAATAGTGAAATTAGGAATAAATTTAAGAGAGAATTGTATTACGCTGATGTGGGAAAACCTTCCTTTTTTATAAAGCAAAAGATGTATCACTTTAAAAACATAAAACATTTTCTAGGATAAAAGCAACATAATTCAGGTGAAAAAACAGACTGGGGAAGCTATCTATGCCTCATATAACAAGGAGTTAATGTCTGTAATGTATAGAAAATTCCTACAAAGTGATAAGCAAAAGTGAGCAAAGGACATGAACAGGCAATTCTGCAAGAGGAAACCCAAACAGATGCCAAGCCCATAAAAGGTATTCAACACAGATGGAAATAACAGCAATGCCTCAGTTTTCATCCATGCTTGATAGTCCCTGCAAAAGGTGCTGACAACCTTCATTCGGGCTTCATTCAACACTTCATTCAGGCATGGATGTGGGAAAGCTGGGGGAGCCTGAATTGCTACAACTTCTTGGGAAAGCAATCTAGCAACATTTATTAAAATTACTAAGGACACACCCTCTCACCCTGCTCCAGTATGTCAGCTTTTAAGAATAAAGATGAATATGGCATCATAGTCTGAATAATTAAGCAGCTTAAAACTATAAGAGCCTGAATGTCCATGATATACAGAATGGTTAGCTGTGGCCAATCTAAACTGTGGACTATTATGTAATGACTAAAATAATTAAATCCATGCCTATATACCTAGAGAAAAATGAAATGAGCTTATGTTACAGAGTGACAGGAACAGAGTCACAGTGACATCCCATGTGCATAAAAGCAACTCCCACCTGGCATCTGCTGCTCGGATGAGCAGAGAGGGTGGGCTAGGGATCTAGTTGGCAGTTAACACTGATGACCTTGGGGGAGGAAAGCCATTGTGAATCTTTGAATTATTCCACTTCTCACAGATGAGTACTTAATCCTTTTGCAATAAAATATTTAAATGAAGACAAATATAAGCCAAGAGCAAATACTGATAGTGTCAACAGAGAGTGGGGAGTGATAAGGATCAGTATCCTGAGCTCCTGTGTCAAAGTTGCAGAGGTGGGCCCAGGAATCATAATGTGAAGCCAGCTGTTGGAGGGACTCCTGTGCCTCATTGGGGGTACAACTGGTTGATGTAGCATCGTGTTTTGAGGAAGGAGTTCTGTGGCTGCCCCCACCTCCCAGGCTTGCCATTCCTCATGGGTCAGAGGTCCTATCACCCCATCTTTCCTGACCCACTACTCTGTCAATGTATGAGTGTGACAATGTATGGTGGTGGGAGCTGTTGTCCCTTACCAGGCCTGTGCCTGTCACCTCTGTTTTATTCTTGACCCAAGTGTCAGTTGTGAACATGGGAAGAGGCCCAGAACCTGAGGTGGGGAGAGTCTTGGACACCTGAGCACAGCCCCAGGCACAGTTACCACTCCGAAGATGATTCACTGGCCTTTATTCTCCTCAGACACTGAGGTGTCAGGCACTTTGGGGCCATCTTAAACACCCACCCACCCCAACACCCAACTATAAAACTGATTGTCAGGGCTGGAGCTTCCAGGCACAAGCTCCACTCCTCACCTGGCCCTGGGAGCTCACAGGCCTGGCTCCACAGCACTGGCAGGTTGGGTGGGAGGCCTAACGTGCTGTCCCCACTTTCTCCTCAGTAAGGAAGAGCCCAACACTGCTGGAAGTGAGCATGCCCCATTTCATGAGAACCAACAGCTTCGCCGAGGACCTGGACCTGGAAGGGGAGACTCTGCTGACACCCATCACCCACATCTCACAGTGAGTGCCTACATGTGCGTGAAGGGCTGGGCTGGAGGGGACTGGAGCTCAAGGAGTCAGACTTGGTGCTGGGGAAGCCTTGCTCTCTGGCCAGAGTGCTATCTACTCGCCTAGTGCCCACCACTTGCCGTCTGCCTGGCCCCAACACGGAGGCACCAGGCAAGAGAGGAGAGCAAGGGCACTTCCCACTGAGCCTGGGAACATGATCCTCTTGTTTTGACTTATGGAAAACCAGACTGATCATTTTCCACTTGTTTTCATGCTTTGAGAGTCTGAGATTGTTTTTCTCTCCCCCAGCCCCCTCCCCTGCCCCCCAAAAAAGAGACGACTTTGTTTTTTAGCATTTCCCCATGGAACCCTGGCCAAAGCCATGGGGCAGATGCCGGGTGCAGTCTGCCAGTTGCTGCTGCTGTCCTCAGGGGCTCCTTCAGGTGGAGGAAATGGCTGATTTTCCACGCCTTCCAGTTGGCCTTCCCCTGAGGCACAGCTGGCCTGGGATGCATGCCCGTCCTCCCCCGCCGTCACGGCATGGCCAGGCCAATCCCCGGTGCCCGGCCACGGTGTGATTCCCCTGCGACATGTGACTCCCCGCTGGGGTGCCCAGCGGTGACAGCCGTGCAGCGGGGTCAGTGGGGCACCCAAGTCCATTCTGGCCACAGTCCCATTCTGGCTGCTAACCCGTTGGGGATTCCCCTTGATAAATGTCTTTGTGTCAAGATCTGTGAGTGACACTCGCGGCCCTTCTGAGGGTCACTTGTGGAAACTCTCCTTCTCTCTACCAACATTTTTCTAAAGGGTGTTTTGTTCTTTGGACTCTCTGGGGGTCAGGAGGTTGTCCTGAGCCATGTGTGTCTTTGTCGTAGTGAGGCCCTGGGCCTCCTGCCTTTGCAGCCAGCCAGGTGCAAGGCCTGGCCTTGCAAATCACTGAGGAAATCGGGACCCATGGTGCTGGGGGCTGCAGGTGTAACCAGAGAACTGGCAGGGTTGGGTAGCCAGAATGAGGCCACCTCCAGGGAAGGAGTGGCTATCTTAAGGGGTAATTATGATCAGACAGGACCTGCCCACTGTCTTTCCAGGCCCCCCCAGTTCACAGAGAGGTTGGCAGTACCTCATGGTGGGTAGGGTGTGAAGAGGCTCCAAGGGAGCCAGCAGATCACTGGAAAGCAGGGGTGACTAGTCATGGACACCCTGAGAATAGGGCTCTGAGCTTCTGGGCCCCTCCTGGCTGGGTAAAAAGGCAGGAGCAGAGGTGTGAGCAGGCTGGTAGCCAGATGGGCTGCCCAGGTACAGGTCAGCACCAGAAGGCAGAATGATGGCTTACACTGTGGCCAAGGCCTGTACCAAGTCCTGGATATGATGGACCTCCAAAGTGATCAGTGTTAGTTTAGTGGCTCATGTTGTGTGCAATACAGGTGGCAGTGCCTGTATTGCCTCTTGGCTGTCCCCTCAGAGAGGGGACTGTCCCTTCTCATCCTTCTGGCTGCTTGCTTCTCCTGTTGGAGCTCTCGCTCACCTTGGTTCTCTTGGTCACGGACCAGCATCCAGACATGCAAAAAGTCCTACTGGGAGGAGAGGGCCATCACCCACAGTCCATCTAGCTGGGCAGCCAGGCCTTACCAACTCTTGGGTCTTGCAAGGCCCCTGCAGGTGAAGGTGGTGAGAGACCAGGCACTTATGTGGATCACAGCCAAACTTGCAGCTGCCCAGTAAATCACCACTATGGGGGTGAGGGCTGCCAGTGCTGGTATCAGCACATGCCAAGCTCCCTGGAGCCAGAGGTTACCCACCTGCCCAAGGGTGACCCCAAGCCAGTGTGGCTGTGTCATCTAGGACACTGGGCTGTTTCTTGTTCCACTCCAGGATGACAGGGCCTGAGAGACCTGAACATCCATCCCCAAGCTCTCTGCCCANN
benign
170,870
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 2662011, gene KCNQ1. What disease(s) is it linked to if pathogenic?
pathogenic; ['Long_QT_syndrome']
GCAAATATTCTTTCCAAGTCTGTGCTTTGTCTTTTCATTCCATTAGCAGTGTCTGTTGCACAGCAAAAGCTTTTAATTTTGATAAAGTCCAATTTGTTGATTCTTTTTCTCTTACGAGTTAAACTTTTGGTTTCGTATTTCAGAATTCACTGCCAAATCCAAGGTCCTGGAGATTTTCTCTTATGTTTTCTTCAAGATATTTTATGGTTTTATGTTTTATTTTAGATTTTTTTTCAGTAAGTTTGTATGTAGTACCCTTTAAATTTTCATTTTCTAATTGTTGATCATCTGTCCTATCAGGCATAGATACTAAATGCATTAAAACTTTTACACACATACATATGTATACATACAACACATTCAAATAGTGAAATTAGGAATAAATTTAAGAGAGAATTGTATTACGCTGATGTGGGAAAACCTTCCTTTTTTATAAAGCAAAAGATGTATCACTTTAAAAACATAAAACATTTTCTAGGATAAAAGCAACATAATTCAGGTGAAAAAACAGACTGGGGAAGCTATCTATGCCTCATATAACAAGGAGTTAATGTCTGTAATGTATAGAAAATTCCTACAAAGTGATAAGCAAAAGTGAGCAAAGGACATGAACAGGCAATTCTGCAAGAGGAAACCCAAACAGATGCCAAGCCCATAAAAGGTATTCAACACAGATGGAAATAACAGCAATGCCTCAGTTTTCATCCATGCTTGATAGTCCCTGCAAAAGGTGCTGACAACCTTCATTCGGGCTTCATTCAACACTTCATTCAGGCATGGATGTGGGAAAGCTGGGGGAGCCTGAATTGCTACAACTTCTTGGGAAAGCAATCTAGCAACATTTATTAAAATTACTAAGGACACACCCTCTCACCCTGCTCCAGTATGTCAGCTTTTAAGAATAAAGATGAATATGGCATCATAGTCTGAATAATTAAGCAGCTTAAAACTATAAGAGCCTGAATGTCCATGATATACAGAATGGTTAGCTGTGGCCAATCTAAACTGTGGACTATTATGTAATGACTAAAATAATTAAATCCATGCCTATATACCTAGAGAAAAATGAAATGAGCTTATGTTACAGAGTGACAGGAACAGAGTCACAGTGACATCCCATGTGCATAAAAGCAACTCCCACCTGGCATCTGCTGCTCGGATGAGCAGAGAGGGTGGGCTAGGGATCTAGTTGGCAGTTAACACTGATGACCTTGGGGGAGGAAAGCCATTGTGAATCTTTGAATTATTCCACTTCTCACAGATGAGTACTTAATCCTTTTGCAATAAAATATTTAAATGAAGACAAATATAAGCCAAGAGCAAATACTGATAGTGTCAACAGAGAGTGGGGAGTGATAAGGATCAGTATCCTGAGCTCCTGTGTCAAAGTTGCAGAGGTGGGCCCAGGAATCATAATGTGAAGCCAGCTGTTGGAGGGACTCCTGTGCCTCATTGGGGGTACAACTGGTTGATGTAGCATCGTGTTTTGAGGAAGGAGTTCTGTGGCTGCCCCCACCTCCCAGGCTTGCCATTCCTCATGGGTCAGAGGTCCTATCACCCCATCTTTCCTGACCCACTACTCTGTCAATGTATGAGTGTGACAATGTATGGTGGTGGGAGCTGTTGTCCCTTACCAGGCCTGTGCCTGTCACCTCTGTTTTATTCTTGACCCAAGTGTCAGTTGTGAACATGGGAAGAGGCCCAGAACCTGAGGTGGGGAGAGTCTTGGACACCTGAGCACAGCCCCAGGCACAGTTACCACTCCGAAGATGATTCACTGGCCTTTATTCTCCTCAGACACTGAGGTGTCAGGCACTTTGGGGCCATCTTAAACACCCACCCACCCCAACACCCAACTATAAAACTGATTGTCAGGGCTGGAGCTTCCAGGCACAAGCTCCACTCCTCACCTGGCCCTGGGAGCTCACAGGCCTGGCTCCACAGCACTGGCAGGTTGGGTGGGAGGCCTAACGTGCTGTCCCCACACTTTCTCCTCAGTAAGGAAGAGCCCAACACTGCTGGAAGTGAGCATGCCCCATTTCATGAGAACCAACAGCTTCGCCGAGGACCTGGACCTGGAAGGGGAGACTCTGCTGACACCCATCACCCACATCTCACAGTGAGTGCCTACATGTGCGTGAAGGGCTGGGCTGGAGGGGACTGGAGCTCAAGGAGTCAGACTTGGTGCTGGGGAAGCCTTGCTCTCTGGCCAGAGTGCTATCTACTCGCCTAGTGCCCACCACTTGCCGTCTGCCTGGCCCCAACACGGAGGCACCAGGCAAGAGAGGAGAGCAAGGGCACTTCCCACTGAGCCTGGGAACATGATCCTCTTGTTTTGACTTATGGAAAACCAGACTGATCATTTTCCACTTGTTTTCATGCTTTGAGAGTCTGAGATTGTTTTTCTCTCCCCCAGCCCCCTCCCCTGCCCCCCAAAAAAGAGACGACTTTGTTTTTTAGCATTTCCCCATGGAACCCTGGCCAAAGCCATGGGGCAGATGCCGGGTGCAGTCTGCCAGTTGCTGCTGCTGTCCTCAGGGGCTCCTTCAGGTGGAGGAAATGGCTGATTTTCCACGCCTTCCAGTTGGCCTTCCCCTGAGGCACAGCTGGCCTGGGATGCATGCCCGTCCTCCCCCGCCGTCACGGCATGGCCAGGCCAATCCCCGGTGCCCGGCCACGGTGTGATTCCCCTGCGACATGTGACTCCCCGCTGGGGTGCCCAGCGGTGACAGCCGTGCAGCGGGGTCAGTGGGGCACCCAAGTCCATTCTGGCCACAGTCCCATTCTGGCTGCTAACCCGTTGGGGATTCCCCTTGATAAATGTCTTTGTGTCAAGATCTGTGAGTGACACTCGCGGCCCTTCTGAGGGTCACTTGTGGAAACTCTCCTTCTCTCTACCAACATTTTTCTAAAGGGTGTTTTGTTCTTTGGACTCTCTGGGGGTCAGGAGGTTGTCCTGAGCCATGTGTGTCTTTGTCGTAGTGAGGCCCTGGGCCTCCTGCCTTTGCAGCCAGCCAGGTGCAAGGCCTGGCCTTGCAAATCACTGAGGAAATCGGGACCCATGGTGCTGGGGGCTGCAGGTGTAACCAGAGAACTGGCAGGGTTGGGTAGCCAGAATGAGGCCACCTCCAGGGAAGGAGTGGCTATCTTAAGGGGTAATTATGATCAGACAGGACCTGCCCACTGTCTTTCCAGGCCCCCCCAGTTCACAGAGAGGTTGGCAGTACCTCATGGTGGGTAGGGTGTGAAGAGGCTCCAAGGGAGCCAGCAGATCACTGGAAAGCAGGGGTGACTAGTCATGGACACCCTGAGAATAGGGCTCTGAGCTTCTGGGCCCCTCCTGGCTGGGTAAAAAGGCAGGAGCAGAGGTGTGAGCAGGCTGGTAGCCAGATGGGCTGCCCAGGTACAGGTCAGCACCAGAAGGCAGAATGATGGCTTACACTGTGGCCAAGGCCTGTACCAAGTCCTGGATATGATGGACCTCCAAAGTGATCAGTGTTAGTTTAGTGGCTCATGTTGTGTGCAATACAGGTGGCAGTGCCTGTATTGCCTCTTGGCTGTCCCCTCAGAGAGGGGACTGTCCCTTCTCATCCTTCTGGCTGCTTGCTTCTCCTGTTGGAGCTCTCGCTCACCTTGGTTCTCTTGGTCACGGACCAGCATCCAGACATGCAAAAAGTCCTACTGGGAGGAGAGGGCCATCACCCACAGTCCATCTAGCTGGGCAGCCAGGCCTTACCAACTCTTGGGTCTTGCAAGGCCCCTGCAGGTGAAGGTGGTGAGAGACCAGGCACTTATGTGGATCACAGCCAAACTTGCAGCTGCCCAGTAAATCACCACTATGGGGGTGAGGGCTGCCAGTGCTGGTATCAGCACATGCCAAGCTCCCTGGAGCCAGAGGTTACCCACCTGCCCAAGGGTGACCCCAAGCCAGTGTGGCTGTGTCATCTAGGACACTGGGCTGTTTCTTGTTCCACTCCAGGATGACAGGGCCTGAGAGACCTGAACATCCATCCCCAAGCTCTCTGCCCACTTTGGGTCTGGCACATTACCATTCTGCAAGATCCTGCAGCCTTTTCAGGTTGGCACTCCCATGGCC
GCAAATATTCTTTCCAAGTCTGTGCTTTGTCTTTTCATTCCATTAGCAGTGTCTGTTGCACAGCAAAAGCTTTTAATTTTGATAAAGTCCAATTTGTTGATTCTTTTTCTCTTACGAGTTAAACTTTTGGTTTCGTATTTCAGAATTCACTGCCAAATCCAAGGTCCTGGAGATTTTCTCTTATGTTTTCTTCAAGATATTTTATGGTTTTATGTTTTATTTTAGATTTTTTTTCAGTAAGTTTGTATGTAGTACCCTTTAAATTTTCATTTTCTAATTGTTGATCATCTGTCCTATCAGGCATAGATACTAAATGCATTAAAACTTTTACACACATACATATGTATACATACAACACATTCAAATAGTGAAATTAGGAATAAATTTAAGAGAGAATTGTATTACGCTGATGTGGGAAAACCTTCCTTTTTTATAAAGCAAAAGATGTATCACTTTAAAAACATAAAACATTTTCTAGGATAAAAGCAACATAATTCAGGTGAAAAAACAGACTGGGGAAGCTATCTATGCCTCATATAACAAGGAGTTAATGTCTGTAATGTATAGAAAATTCCTACAAAGTGATAAGCAAAAGTGAGCAAAGGACATGAACAGGCAATTCTGCAAGAGGAAACCCAAACAGATGCCAAGCCCATAAAAGGTATTCAACACAGATGGAAATAACAGCAATGCCTCAGTTTTCATCCATGCTTGATAGTCCCTGCAAAAGGTGCTGACAACCTTCATTCGGGCTTCATTCAACACTTCATTCAGGCATGGATGTGGGAAAGCTGGGGGAGCCTGAATTGCTACAACTTCTTGGGAAAGCAATCTAGCAACATTTATTAAAATTACTAAGGACACACCCTCTCACCCTGCTCCAGTATGTCAGCTTTTAAGAATAAAGATGAATATGGCATCATAGTCTGAATAATTAAGCAGCTTAAAACTATAAGAGCCTGAATGTCCATGATATACAGAATGGTTAGCTGTGGCCAATCTAAACTGTGGACTATTATGTAATGACTAAAATAATTAAATCCATGCCTATATACCTAGAGAAAAATGAAATGAGCTTATGTTACAGAGTGACAGGAACAGAGTCACAGTGACATCCCATGTGCATAAAAGCAACTCCCACCTGGCATCTGCTGCTCGGATGAGCAGAGAGGGTGGGCTAGGGATCTAGTTGGCAGTTAACACTGATGACCTTGGGGGAGGAAAGCCATTGTGAATCTTTGAATTATTCCACTTCTCACAGATGAGTACTTAATCCTTTTGCAATAAAATATTTAAATGAAGACAAATATAAGCCAAGAGCAAATACTGATAGTGTCAACAGAGAGTGGGGAGTGATAAGGATCAGTATCCTGAGCTCCTGTGTCAAAGTTGCAGAGGTGGGCCCAGGAATCATAATGTGAAGCCAGCTGTTGGAGGGACTCCTGTGCCTCATTGGGGGTACAACTGGTTGATGTAGCATCGTGTTTTGAGGAAGGAGTTCTGTGGCTGCCCCCACCTCCCAGGCTTGCCATTCCTCATGGGTCAGAGGTCCTATCACCCCATCTTTCCTGACCCACTACTCTGTCAATGTATGAGTGTGACAATGTATGGTGGTGGGAGCTGTTGTCCCTTACCAGGCCTGTGCCTGTCACCTCTGTTTTATTCTTGACCCAAGTGTCAGTTGTGAACATGGGAAGAGGCCCAGAACCTGAGGTGGGGAGAGTCTTGGACACCTGAGCACAGCCCCAGGCACAGTTACCACTCCGAAGATGATTCACTGGCCTTTATTCTCCTCAGACACTGAGGTGTCAGGCACTTTGGGGCCATCTTAAACACCCACCCACCCCAACACCCAACTATAAAACTGATTGTCAGGGCTGGAGCTTCCAGGCACAAGCTCCACTCCTCACCTGGCCCTGGGAGCTCACAGGCCTGGCTCCACAGCACTGGCAGGTTGGGTGGGAGGCCTAACGTGCTGTCCCCACACTTTCTCCTCAGTAAGGAAGAGCCCAACACTGCTGGAAGTGAGCATGCCCCATTTCATGAGAACAACAGCTTCGCCGAGGACCTGGACCTGGAAGGGGAGACTCTGCTGACACCCATCACCCACATCTCACAGTGAGTGCCTACATGTGCGTGAAGGGCTGGGCTGGAGGGGACTGGAGCTCAAGGAGTCAGACTTGGTGCTGGGGAAGCCTTGCTCTCTGGCCAGAGTGCTATCTACTCGCCTAGTGCCCACCACTTGCCGTCTGCCTGGCCCCAACACGGAGGCACCAGGCAAGAGAGGAGAGCAAGGGCACTTCCCACTGAGCCTGGGAACATGATCCTCTTGTTTTGACTTATGGAAAACCAGACTGATCATTTTCCACTTGTTTTCATGCTTTGAGAGTCTGAGATTGTTTTTCTCTCCCCCAGCCCCCTCCCCTGCCCCCCAAAAAAGAGACGACTTTGTTTTTTAGCATTTCCCCATGGAACCCTGGCCAAAGCCATGGGGCAGATGCCGGGTGCAGTCTGCCAGTTGCTGCTGCTGTCCTCAGGGGCTCCTTCAGGTGGAGGAAATGGCTGATTTTCCACGCCTTCCAGTTGGCCTTCCCCTGAGGCACAGCTGGCCTGGGATGCATGCCCGTCCTCCCCCGCCGTCACGGCATGGCCAGGCCAATCCCCGGTGCCCGGCCACGGTGTGATTCCCCTGCGACATGTGACTCCCCGCTGGGGTGCCCAGCGGTGACAGCCGTGCAGCGGGGTCAGTGGGGCACCCAAGTCCATTCTGGCCACAGTCCCATTCTGGCTGCTAACCCGTTGGGGATTCCCCTTGATAAATGTCTTTGTGTCAAGATCTGTGAGTGACACTCGCGGCCCTTCTGAGGGTCACTTGTGGAAACTCTCCTTCTCTCTACCAACATTTTTCTAAAGGGTGTTTTGTTCTTTGGACTCTCTGGGGGTCAGGAGGTTGTCCTGAGCCATGTGTGTCTTTGTCGTAGTGAGGCCCTGGGCCTCCTGCCTTTGCAGCCAGCCAGGTGCAAGGCCTGGCCTTGCAAATCACTGAGGAAATCGGGACCCATGGTGCTGGGGGCTGCAGGTGTAACCAGAGAACTGGCAGGGTTGGGTAGCCAGAATGAGGCCACCTCCAGGGAAGGAGTGGCTATCTTAAGGGGTAATTATGATCAGACAGGACCTGCCCACTGTCTTTCCAGGCCCCCCCAGTTCACAGAGAGGTTGGCAGTACCTCATGGTGGGTAGGGTGTGAAGAGGCTCCAAGGGAGCCAGCAGATCACTGGAAAGCAGGGGTGACTAGTCATGGACACCCTGAGAATAGGGCTCTGAGCTTCTGGGCCCCTCCTGGCTGGGTAAAAAGGCAGGAGCAGAGGTGTGAGCAGGCTGGTAGCCAGATGGGCTGCCCAGGTACAGGTCAGCACCAGAAGGCAGAATGATGGCTTACACTGTGGCCAAGGCCTGTACCAAGTCCTGGATATGATGGACCTCCAAAGTGATCAGTGTTAGTTTAGTGGCTCATGTTGTGTGCAATACAGGTGGCAGTGCCTGTATTGCCTCTTGGCTGTCCCCTCAGAGAGGGGACTGTCCCTTCTCATCCTTCTGGCTGCTTGCTTCTCCTGTTGGAGCTCTCGCTCACCTTGGTTCTCTTGGTCACGGACCAGCATCCAGACATGCAAAAAGTCCTACTGGGAGGAGAGGGCCATCACCCACAGTCCATCTAGCTGGGCAGCCAGGCCTTACCAACTCTTGGGTCTTGCAAGGCCCCTGCAGGTGAAGGTGGTGAGAGACCAGGCACTTATGTGGATCACAGCCAAACTTGCAGCTGCCCAGTAAATCACCACTATGGGGGTGAGGGCTGCCAGTGCTGGTATCAGCACATGCCAAGCTCCCTGGAGCCAGAGGTTACCCACCTGCCCAAGGGTGACCCCAAGCCAGTGTGGCTGTGTCATCTAGGACACTGGGCTGTTTCTTGTTCCACTCCAGGATGACAGGGCCTGAGAGACCTGAACATCCATCCCCAAGCTCTCTGCCCACTTTGGGTCTGGCACATTACCATTCTGCAAGATCCTGCAGCCTTTTCAGGTTGGCACTCCCATGGCCN
pathogenic
170,877
Is chromosome 11, position 2662050, gene KCNQ1 variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Atrial_fibrillation,_familial,_3', 'Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Jervell_and_Lange-Nielsen_syndrome_1', 'KCNQ1-related_epilepsy', 'Long_QT_syndrome', 'Long_QT_syndrome_1', 'Short_QT_syndrome_type_2']
CCATTAGCAGTGTCTGTTGCACAGCAAAAGCTTTTAATTTTGATAAAGTCCAATTTGTTGATTCTTTTTCTCTTACGAGTTAAACTTTTGGTTTCGTATTTCAGAATTCACTGCCAAATCCAAGGTCCTGGAGATTTTCTCTTATGTTTTCTTCAAGATATTTTATGGTTTTATGTTTTATTTTAGATTTTTTTTCAGTAAGTTTGTATGTAGTACCCTTTAAATTTTCATTTTCTAATTGTTGATCATCTGTCCTATCAGGCATAGATACTAAATGCATTAAAACTTTTACACACATACATATGTATACATACAACACATTCAAATAGTGAAATTAGGAATAAATTTAAGAGAGAATTGTATTACGCTGATGTGGGAAAACCTTCCTTTTTTATAAAGCAAAAGATGTATCACTTTAAAAACATAAAACATTTTCTAGGATAAAAGCAACATAATTCAGGTGAAAAAACAGACTGGGGAAGCTATCTATGCCTCATATAACAAGGAGTTAATGTCTGTAATGTATAGAAAATTCCTACAAAGTGATAAGCAAAAGTGAGCAAAGGACATGAACAGGCAATTCTGCAAGAGGAAACCCAAACAGATGCCAAGCCCATAAAAGGTATTCAACACAGATGGAAATAACAGCAATGCCTCAGTTTTCATCCATGCTTGATAGTCCCTGCAAAAGGTGCTGACAACCTTCATTCGGGCTTCATTCAACACTTCATTCAGGCATGGATGTGGGAAAGCTGGGGGAGCCTGAATTGCTACAACTTCTTGGGAAAGCAATCTAGCAACATTTATTAAAATTACTAAGGACACACCCTCTCACCCTGCTCCAGTATGTCAGCTTTTAAGAATAAAGATGAATATGGCATCATAGTCTGAATAATTAAGCAGCTTAAAACTATAAGAGCCTGAATGTCCATGATATACAGAATGGTTAGCTGTGGCCAATCTAAACTGTGGACTATTATGTAATGACTAAAATAATTAAATCCATGCCTATATACCTAGAGAAAAATGAAATGAGCTTATGTTACAGAGTGACAGGAACAGAGTCACAGTGACATCCCATGTGCATAAAAGCAACTCCCACCTGGCATCTGCTGCTCGGATGAGCAGAGAGGGTGGGCTAGGGATCTAGTTGGCAGTTAACACTGATGACCTTGGGGGAGGAAAGCCATTGTGAATCTTTGAATTATTCCACTTCTCACAGATGAGTACTTAATCCTTTTGCAATAAAATATTTAAATGAAGACAAATATAAGCCAAGAGCAAATACTGATAGTGTCAACAGAGAGTGGGGAGTGATAAGGATCAGTATCCTGAGCTCCTGTGTCAAAGTTGCAGAGGTGGGCCCAGGAATCATAATGTGAAGCCAGCTGTTGGAGGGACTCCTGTGCCTCATTGGGGGTACAACTGGTTGATGTAGCATCGTGTTTTGAGGAAGGAGTTCTGTGGCTGCCCCCACCTCCCAGGCTTGCCATTCCTCATGGGTCAGAGGTCCTATCACCCCATCTTTCCTGACCCACTACTCTGTCAATGTATGAGTGTGACAATGTATGGTGGTGGGAGCTGTTGTCCCTTACCAGGCCTGTGCCTGTCACCTCTGTTTTATTCTTGACCCAAGTGTCAGTTGTGAACATGGGAAGAGGCCCAGAACCTGAGGTGGGGAGAGTCTTGGACACCTGAGCACAGCCCCAGGCACAGTTACCACTCCGAAGATGATTCACTGGCCTTTATTCTCCTCAGACACTGAGGTGTCAGGCACTTTGGGGCCATCTTAAACACCCACCCACCCCAACACCCAACTATAAAACTGATTGTCAGGGCTGGAGCTTCCAGGCACAAGCTCCACTCCTCACCTGGCCCTGGGAGCTCACAGGCCTGGCTCCACAGCACTGGCAGGTTGGGTGGGAGGCCTAACGTGCTGTCCCCACACTTTCTCCTCAGTAAGGAAGAGCCCAACACTGCTGGAAGTGAGCATGCCCCATTTCATGAGAACCAACAGCTTCGCCGAGGACCTGGACCTGGAAGGGGAGACTCTGCTGACACCCATCACCCACATCTCACAGTGAGTGCCTACATGTGCGTGAAGGGCTGGGCTGGAGGGGACTGGAGCTCAAGGAGTCAGACTTGGTGCTGGGGAAGCCTTGCTCTCTGGCCAGAGTGCTATCTACTCGCCTAGTGCCCACCACTTGCCGTCTGCCTGGCCCCAACACGGAGGCACCAGGCAAGAGAGGAGAGCAAGGGCACTTCCCACTGAGCCTGGGAACATGATCCTCTTGTTTTGACTTATGGAAAACCAGACTGATCATTTTCCACTTGTTTTCATGCTTTGAGAGTCTGAGATTGTTTTTCTCTCCCCCAGCCCCCTCCCCTGCCCCCCAAAAAAGAGACGACTTTGTTTTTTAGCATTTCCCCATGGAACCCTGGCCAAAGCCATGGGGCAGATGCCGGGTGCAGTCTGCCAGTTGCTGCTGCTGTCCTCAGGGGCTCCTTCAGGTGGAGGAAATGGCTGATTTTCCACGCCTTCCAGTTGGCCTTCCCCTGAGGCACAGCTGGCCTGGGATGCATGCCCGTCCTCCCCCGCCGTCACGGCATGGCCAGGCCAATCCCCGGTGCCCGGCCACGGTGTGATTCCCCTGCGACATGTGACTCCCCGCTGGGGTGCCCAGCGGTGACAGCCGTGCAGCGGGGTCAGTGGGGCACCCAAGTCCATTCTGGCCACAGTCCCATTCTGGCTGCTAACCCGTTGGGGATTCCCCTTGATAAATGTCTTTGTGTCAAGATCTGTGAGTGACACTCGCGGCCCTTCTGAGGGTCACTTGTGGAAACTCTCCTTCTCTCTACCAACATTTTTCTAAAGGGTGTTTTGTTCTTTGGACTCTCTGGGGGTCAGGAGGTTGTCCTGAGCCATGTGTGTCTTTGTCGTAGTGAGGCCCTGGGCCTCCTGCCTTTGCAGCCAGCCAGGTGCAAGGCCTGGCCTTGCAAATCACTGAGGAAATCGGGACCCATGGTGCTGGGGGCTGCAGGTGTAACCAGAGAACTGGCAGGGTTGGGTAGCCAGAATGAGGCCACCTCCAGGGAAGGAGTGGCTATCTTAAGGGGTAATTATGATCAGACAGGACCTGCCCACTGTCTTTCCAGGCCCCCCCAGTTCACAGAGAGGTTGGCAGTACCTCATGGTGGGTAGGGTGTGAAGAGGCTCCAAGGGAGCCAGCAGATCACTGGAAAGCAGGGGTGACTAGTCATGGACACCCTGAGAATAGGGCTCTGAGCTTCTGGGCCCCTCCTGGCTGGGTAAAAAGGCAGGAGCAGAGGTGTGAGCAGGCTGGTAGCCAGATGGGCTGCCCAGGTACAGGTCAGCACCAGAAGGCAGAATGATGGCTTACACTGTGGCCAAGGCCTGTACCAAGTCCTGGATATGATGGACCTCCAAAGTGATCAGTGTTAGTTTAGTGGCTCATGTTGTGTGCAATACAGGTGGCAGTGCCTGTATTGCCTCTTGGCTGTCCCCTCAGAGAGGGGACTGTCCCTTCTCATCCTTCTGGCTGCTTGCTTCTCCTGTTGGAGCTCTCGCTCACCTTGGTTCTCTTGGTCACGGACCAGCATCCAGACATGCAAAAAGTCCTACTGGGAGGAGAGGGCCATCACCCACAGTCCATCTAGCTGGGCAGCCAGGCCTTACCAACTCTTGGGTCTTGCAAGGCCCCTGCAGGTGAAGGTGGTGAGAGACCAGGCACTTATGTGGATCACAGCCAAACTTGCAGCTGCCCAGTAAATCACCACTATGGGGGTGAGGGCTGCCAGTGCTGGTATCAGCACATGCCAAGCTCCCTGGAGCCAGAGGTTACCCACCTGCCCAAGGGTGACCCCAAGCCAGTGTGGCTGTGTCATCTAGGACACTGGGCTGTTTCTTGTTCCACTCCAGGATGACAGGGCCTGAGAGACCTGAACATCCATCCCCAAGCTCTCTGCCCACTTTGGGTCTGGCACATTACCATTCTGCAAGATCCTGCAGCCTTTTCAGGTTGGCACTCCCATGGCCTCCAGTGATAAGTGGGCCCAGGCAGGTCAGAGACTCCAG
CCATTAGCAGTGTCTGTTGCACAGCAAAAGCTTTTAATTTTGATAAAGTCCAATTTGTTGATTCTTTTTCTCTTACGAGTTAAACTTTTGGTTTCGTATTTCAGAATTCACTGCCAAATCCAAGGTCCTGGAGATTTTCTCTTATGTTTTCTTCAAGATATTTTATGGTTTTATGTTTTATTTTAGATTTTTTTTCAGTAAGTTTGTATGTAGTACCCTTTAAATTTTCATTTTCTAATTGTTGATCATCTGTCCTATCAGGCATAGATACTAAATGCATTAAAACTTTTACACACATACATATGTATACATACAACACATTCAAATAGTGAAATTAGGAATAAATTTAAGAGAGAATTGTATTACGCTGATGTGGGAAAACCTTCCTTTTTTATAAAGCAAAAGATGTATCACTTTAAAAACATAAAACATTTTCTAGGATAAAAGCAACATAATTCAGGTGAAAAAACAGACTGGGGAAGCTATCTATGCCTCATATAACAAGGAGTTAATGTCTGTAATGTATAGAAAATTCCTACAAAGTGATAAGCAAAAGTGAGCAAAGGACATGAACAGGCAATTCTGCAAGAGGAAACCCAAACAGATGCCAAGCCCATAAAAGGTATTCAACACAGATGGAAATAACAGCAATGCCTCAGTTTTCATCCATGCTTGATAGTCCCTGCAAAAGGTGCTGACAACCTTCATTCGGGCTTCATTCAACACTTCATTCAGGCATGGATGTGGGAAAGCTGGGGGAGCCTGAATTGCTACAACTTCTTGGGAAAGCAATCTAGCAACATTTATTAAAATTACTAAGGACACACCCTCTCACCCTGCTCCAGTATGTCAGCTTTTAAGAATAAAGATGAATATGGCATCATAGTCTGAATAATTAAGCAGCTTAAAACTATAAGAGCCTGAATGTCCATGATATACAGAATGGTTAGCTGTGGCCAATCTAAACTGTGGACTATTATGTAATGACTAAAATAATTAAATCCATGCCTATATACCTAGAGAAAAATGAAATGAGCTTATGTTACAGAGTGACAGGAACAGAGTCACAGTGACATCCCATGTGCATAAAAGCAACTCCCACCTGGCATCTGCTGCTCGGATGAGCAGAGAGGGTGGGCTAGGGATCTAGTTGGCAGTTAACACTGATGACCTTGGGGGAGGAAAGCCATTGTGAATCTTTGAATTATTCCACTTCTCACAGATGAGTACTTAATCCTTTTGCAATAAAATATTTAAATGAAGACAAATATAAGCCAAGAGCAAATACTGATAGTGTCAACAGAGAGTGGGGAGTGATAAGGATCAGTATCCTGAGCTCCTGTGTCAAAGTTGCAGAGGTGGGCCCAGGAATCATAATGTGAAGCCAGCTGTTGGAGGGACTCCTGTGCCTCATTGGGGGTACAACTGGTTGATGTAGCATCGTGTTTTGAGGAAGGAGTTCTGTGGCTGCCCCCACCTCCCAGGCTTGCCATTCCTCATGGGTCAGAGGTCCTATCACCCCATCTTTCCTGACCCACTACTCTGTCAATGTATGAGTGTGACAATGTATGGTGGTGGGAGCTGTTGTCCCTTACCAGGCCTGTGCCTGTCACCTCTGTTTTATTCTTGACCCAAGTGTCAGTTGTGAACATGGGAAGAGGCCCAGAACCTGAGGTGGGGAGAGTCTTGGACACCTGAGCACAGCCCCAGGCACAGTTACCACTCCGAAGATGATTCACTGGCCTTTATTCTCCTCAGACACTGAGGTGTCAGGCACTTTGGGGCCATCTTAAACACCCACCCACCCCAACACCCAACTATAAAACTGATTGTCAGGGCTGGAGCTTCCAGGCACAAGCTCCACTCCTCACCTGGCCCTGGGAGCTCACAGGCCTGGCTCCACAGCACTGGCAGGTTGGGTGGGAGGCCTAACGTGCTGTCCCCACACTTTCTCCTCAGTAAGGAAGAGCCCAACACTGCTGGAAGTGAGCATGCCCCATTTCATGAGAACCAACAGCTTCGCCGAGGACCTGGACCTGGAAGGGGAGACTGCTGACACCCATCACCCACATCTCACAGTGAGTGCCTACATGTGCGTGAAGGGCTGGGCTGGAGGGGACTGGAGCTCAAGGAGTCAGACTTGGTGCTGGGGAAGCCTTGCTCTCTGGCCAGAGTGCTATCTACTCGCCTAGTGCCCACCACTTGCCGTCTGCCTGGCCCCAACACGGAGGCACCAGGCAAGAGAGGAGAGCAAGGGCACTTCCCACTGAGCCTGGGAACATGATCCTCTTGTTTTGACTTATGGAAAACCAGACTGATCATTTTCCACTTGTTTTCATGCTTTGAGAGTCTGAGATTGTTTTTCTCTCCCCCAGCCCCCTCCCCTGCCCCCCAAAAAAGAGACGACTTTGTTTTTTAGCATTTCCCCATGGAACCCTGGCCAAAGCCATGGGGCAGATGCCGGGTGCAGTCTGCCAGTTGCTGCTGCTGTCCTCAGGGGCTCCTTCAGGTGGAGGAAATGGCTGATTTTCCACGCCTTCCAGTTGGCCTTCCCCTGAGGCACAGCTGGCCTGGGATGCATGCCCGTCCTCCCCCGCCGTCACGGCATGGCCAGGCCAATCCCCGGTGCCCGGCCACGGTGTGATTCCCCTGCGACATGTGACTCCCCGCTGGGGTGCCCAGCGGTGACAGCCGTGCAGCGGGGTCAGTGGGGCACCCAAGTCCATTCTGGCCACAGTCCCATTCTGGCTGCTAACCCGTTGGGGATTCCCCTTGATAAATGTCTTTGTGTCAAGATCTGTGAGTGACACTCGCGGCCCTTCTGAGGGTCACTTGTGGAAACTCTCCTTCTCTCTACCAACATTTTTCTAAAGGGTGTTTTGTTCTTTGGACTCTCTGGGGGTCAGGAGGTTGTCCTGAGCCATGTGTGTCTTTGTCGTAGTGAGGCCCTGGGCCTCCTGCCTTTGCAGCCAGCCAGGTGCAAGGCCTGGCCTTGCAAATCACTGAGGAAATCGGGACCCATGGTGCTGGGGGCTGCAGGTGTAACCAGAGAACTGGCAGGGTTGGGTAGCCAGAATGAGGCCACCTCCAGGGAAGGAGTGGCTATCTTAAGGGGTAATTATGATCAGACAGGACCTGCCCACTGTCTTTCCAGGCCCCCCCAGTTCACAGAGAGGTTGGCAGTACCTCATGGTGGGTAGGGTGTGAAGAGGCTCCAAGGGAGCCAGCAGATCACTGGAAAGCAGGGGTGACTAGTCATGGACACCCTGAGAATAGGGCTCTGAGCTTCTGGGCCCCTCCTGGCTGGGTAAAAAGGCAGGAGCAGAGGTGTGAGCAGGCTGGTAGCCAGATGGGCTGCCCAGGTACAGGTCAGCACCAGAAGGCAGAATGATGGCTTACACTGTGGCCAAGGCCTGTACCAAGTCCTGGATATGATGGACCTCCAAAGTGATCAGTGTTAGTTTAGTGGCTCATGTTGTGTGCAATACAGGTGGCAGTGCCTGTATTGCCTCTTGGCTGTCCCCTCAGAGAGGGGACTGTCCCTTCTCATCCTTCTGGCTGCTTGCTTCTCCTGTTGGAGCTCTCGCTCACCTTGGTTCTCTTGGTCACGGACCAGCATCCAGACATGCAAAAAGTCCTACTGGGAGGAGAGGGCCATCACCCACAGTCCATCTAGCTGGGCAGCCAGGCCTTACCAACTCTTGGGTCTTGCAAGGCCCCTGCAGGTGAAGGTGGTGAGAGACCAGGCACTTATGTGGATCACAGCCAAACTTGCAGCTGCCCAGTAAATCACCACTATGGGGGTGAGGGCTGCCAGTGCTGGTATCAGCACATGCCAAGCTCCCTGGAGCCAGAGGTTACCCACCTGCCCAAGGGTGACCCCAAGCCAGTGTGGCTGTGTCATCTAGGACACTGGGCTGTTTCTTGTTCCACTCCAGGATGACAGGGCCTGAGAGACCTGAACATCCATCCCCAAGCTCTCTGCCCACTTTGGGTCTGGCACATTACCATTCTGCAAGATCCTGCAGCCTTTTCAGGTTGGCACTCCCATGGCCTCCAGTGATAAGTGGGCCCAGGCAGGTCAGAGACTCCAGNN
pathogenic
170,884
Classify the chromosome 11 variant at position 2768841 affecting gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) as benign or pathogenic. If pathogenic, which disease(s) is associated?
pathogenic; ['Long_QT_syndrome']
ATTGATATGACATTACCTATTTCTTAGTCCTTATTTCTGTATCAGTTACCTATTGTTGCGTAGCAAACTAGACCTAAATTTAGTGGCTTCAAATATTTTCTTTGGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTTGGAGGCCAAGGCGGACAGATCATGAGGTCAAGAGATCAACACCATCCTAGCCAACATGATCAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGCACCTGCTACTCAGGAGGCTGAGGCAGAAAAATCACTTGAACCCGGGAGGCGGAGGCTGCAGTGAGCCGAGGTTGTGCCACTGCACTCCAGCCTGGCAATAGAGCGAGACTCCATCTATATGTGTGTGTGTGTGTGTATTTTTTTTTTTCTTTGCTTAGCTAGGAGGTTGGACTTGGTTCAGCTAGGAGGTTGTTCTGTTGGTGCTGGCTGTTAGCTGAGGCCTCTCTCTTCTCCATGTGGCCTCTCTAATCAGCAAGCTTGTTTGCAGGGCCACATTCCAAAAGGACATGAATTATATACCGTGTACATTCCCCAGTACTCTTTCATCAGTGAAGTCACAAGGTGACCCCAAATTCAAGTAATAGGAAAACAGACTCCATCTCTTAATGGAAGGAGCTGCAAGTATTTAAGGCTGTTGGAAGTACCACACCTTTAGATCTGTATGATCTCTCTTTTCCCTTGCCTTTTAGTCTTTCGTGTATAAAATTGTAGATGCTCGAGGGTATTATCTCCCTACAGATAATTTTATTTTCTTCTGCCACGCGCAAAGCACCTTACTCCAGTAGGGGATTGAGAGAGGTGGGGTTAATGTGATGGAAAGTTGGCATTGCTTAGTTTCTGGGGCTGCCTTCTAGATAGCTTCTAAACCCCAAAGCTTCTCTCCACAGTGCCATGCGTCTACTGAGTACTCTGCTTAGCTTTTACCCCTTCAGCAACTGCTTTTTGCTCAGTTTCTGTGATTCTCACCCACCCGTGTGGCTTAGGAATTCACAAGTGTTTCCAGAGGAAGTTGTGTGAAAGGTGGCTAGAGGACCAGAATCTTTTTCCCTCGTGTCCTGGCTGTCCTGTGGCCCTGGACTCCACATTTTTATCACTAGCCCACTGGGCCCCCACCCTGTTGGGTGTCAGTGCTCCCCAAACTGACAAGTGCCCTGAGGAGGAAACGCTCGGATGCAGGCGCAGCTCAGTTCATTTCCTTTCTATGTGGGATCCTCACCTTCTATGTCTTTCTTGGTCTCCAAAGCCTCACACAGCTGTTCCTTGCTGTTGGCATCACTTAGTCTCGCAGTCCCTGGTGTTTCCATCAGGAAAGTCAGGCAGGCGTTAGCTTCACTGCCAGGAGGGAATCTCCTGTGGCCTCCATGGCGCTGTGTTTTCTTCCAGTCTTTTTTCTATGCACAGACACATCATCCCCTTTGTTTCCTTTTGTGATGCTGTTTCTAAAAGGATCTTTATTTCTAGAAGAAACTTTAGGAGGCAAAAACAGCGCAGCCCCCTTAACAGAGTGGCTCTGGTGGCAACTTTCCCTTGTTAATTTGTCCTGTAGCCCCTACTTTCCCAAGCGCTTGCTGTTTGTGGGGCTACAGGACACAGCAGCTGAAAGGGGCTGTGGGCATCGCCAGCATGTACCCTCTTATCCCATTTGCTGACAAGGATCCTGAAGGCCCAAGCATAGAAAGAAGTTGCTATGGCTGCCATGTGTCAGCAGCATAGCCATGGCCAACTCAGGGCCCTGACTCCTACCTGACCCCCTTCTGAATGACACTCAAGGTAAGGGTCCCCTTCCCACTCACAGATGAGGTGAAACATTTCACCTTGAAAAGCCTCTTGCCCCCAGCCTCCCCTCGAGCCCACACTGGGACATGGCCTAAGTATCTCCATCCCATGGAGTTGAACACTCTCCTTGTTTCTGGAAGGATCCAGTCTGCGTGCTCCTCAGGCAGTGCAGGGGCAGTGAGGGGATGACCAGCACAGGGTGGCCACTCACAATCTCCTCTCCTCTCTCCACTGCAGGCTGCGGGAACACCATCGGGCCACCATTAAGGTCATTCGACGCATGCAGTACTTTGTGGCCAAGAAGAAATTCCAGGTAAGCCCTGTGCTGAGCCTTCCTGCCCTCAGCCTGCCCCTCGCAGCCTGATGCAGCTGCCCACACCTCTCCTGGGTTCTCTCCTGCCCATAGTGGAGGGTGTCAAGGCCTCCGCCCCCAAGCCACACAGGCAGGCCTATCTGAGACCTGACAGTGCCTACCCCACCGAACCCCAGACAGCAGGCCCCTCAGAGGACCTATCCTTGGAGGCCCGGCCTGGAACCAGGGACACATGCAGTGTCTTCTTCACCAAGTAGAAGGCAGCAGCCGTGTAGCTCACTCAGTCCTCCCGTGGGGTGGGTCGTGCAAGGCAGCATTAGTGAGAGATGTGAGGGTGACATCAGAATGACTCAGAGATGGTGCGGAGCCTGCCCTGAGTCACCAAGCTGGGAAGGCAGGTCCCCCAGACCCCCCAGCCCTGTCCTCCACTGGCTCAGTGCTCTCATTCCCTGCTCCTCCACCCTCTGTGAGTTGGGAGGATGGAGGGAGGCTGGGCCCTGCTCTGTAAGAGGTGGGGTCCCCTTGGCCAGGTGAGGCTGGAGCTCCAGGGCTTCCATAAGCTGCCCTAACTTCTCCAGGGGCATGTCCCCCCTACAGAAGCCCCTTAGAGCCCCCAGAGTCCATGCCCCGCAGAGAATGCCATTGATGGCAGGCATGTCTCCCCTCCTGCCTTGGGGACATTCCTCGGATGAAGGCGGTGGTGGGGGGTACTGAGTCCTGGCTTGGAAATACATGTGTAGGTGTGGGAACCCCGTATCCTCTGTGGTGGGTGATCCAGAAGGCAAAAATCACAAAGCAGGGAAGGCTGGGGGGTGACTTGCCTGAGTCCCTTGGAGCGGGGGGCGTGTGACGTGCTTGAGTGAGTGCGTGTCTGCAGGAGCAGGGCAGGGTGGGGCTTCTGAGCTGGGGGCCCCTGGCACCTCAGCCACAGCCTCACCAGTCATAAGGCACAGCCCAGGAAGGCTCAGCAATGTCCGCCGACCACCAGGACCCACAGTCGGTGGCATCCCAGCCCACCAAGACTTATCCTGGAGCCACTGAGCTCCCTGCTAGGGTCTGGTCAGGGCTTATGGGGGCCTTTGTCAAGAGGTCGTTGGGTCGGGCTGGGAAGATCATCTTGACTTCAGGAGCCTGAGATGAGCCAAGATAATGCACAGCCCATCCAGACGGACTGACAGTGGCATTCAAGTCTGGTCCCCCTGCAGCCATGTCTTTCACACCAGGCCACACCTTCCACTCCAGGCCCCAGGATTGACACAGGCCCGCCCACAGTCTCCTTGGTGGAGCCCCCACCCATCTGGGCCCTGGAGCCACCTCAGCCTCCAGACTTCACAGGGCGGTCTGGGTGCAGACCCTGGCACAGGCAGCCCTGGGCAAGTTCTTCCCCAGCTGTGAGGGGAATGAGAGCCTAAGGGTTTGGCATAAGATCATATGCACGTGCCTCACCCGGGCCTTGCCCCCAGCAACCCCAGGCCAGCACCCGCTAGGCTCGTCGTCACTCTGAGCCCCAAGAGCAGCCCTCGGCCAGGCCCTTGCCAAGAGCAGTATGCGGGCCCTCGTTCTGGCCACCGGGCCACCATCTCCAGGGGGGTTTCGCATGCACAGCCCTCCCACAGTGGTGTTTCTCAGCTGGCCCTCCCACCTGCATCCCCCCAGGGAAGGGGGTGGTTCATGACTCAACTGAACCAAGTTGTGTCAAAGCTCCCAGCAGTGCCTGGGACCTCTTGCAGTCAAAATAAAAGCCATGGCAAATGCCACTGCTGGCCAGTGCCCGGAGATCTGCCTGGCATGTTCTAGGGGAGATCTGACAGCCCCTGTGGACCAGGGTGTCTCCATTCTGGGACCGTCTCCTCTCTCTGGTGCTGGCATGGAGGGCCTTGCTGGAGCAGGGAGCTCACTCGGGGGCAATGGAAGAGAGAGGCCAGCCTCCTGGCAGCACCAGTGCTCTCCCAGACAGGGAAGGGGCTGC
ATTGATATGACATTACCTATTTCTTAGTCCTTATTTCTGTATCAGTTACCTATTGTTGCGTAGCAAACTAGACCTAAATTTAGTGGCTTCAAATATTTTCTTTGGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTTGGAGGCCAAGGCGGACAGATCATGAGGTCAAGAGATCAACACCATCCTAGCCAACATGATCAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGCACCTGCTACTCAGGAGGCTGAGGCAGAAAAATCACTTGAACCCGGGAGGCGGAGGCTGCAGTGAGCCGAGGTTGTGCCACTGCACTCCAGCCTGGCAATAGAGCGAGACTCCATCTATATGTGTGTGTGTGTGTGTATTTTTTTTTTTCTTTGCTTAGCTAGGAGGTTGGACTTGGTTCAGCTAGGAGGTTGTTCTGTTGGTGCTGGCTGTTAGCTGAGGCCTCTCTCTTCTCCATGTGGCCTCTCTAATCAGCAAGCTTGTTTGCAGGGCCACATTCCAAAAGGACATGAATTATATACCGTGTACATTCCCCAGTACTCTTTCATCAGTGAAGTCACAAGGTGACCCCAAATTCAAGTAATAGGAAAACAGACTCCATCTCTTAATGGAAGGAGCTGCAAGTATTTAAGGCTGTTGGAAGTACCACACCTTTAGATCTGTATGATCTCTCTTTTCCCTTGCCTTTTAGTCTTTCGTGTATAAAATTGTAGATGCTCGAGGGTATTATCTCCCTACAGATAATTTTATTTTCTTCTGCCACGCGCAAAGCACCTTACTCCAGTAGGGGATTGAGAGAGGTGGGGTTAATGTGATGGAAAGTTGGCATTGCTTAGTTTCTGGGGCTGCCTTCTAGATAGCTTCTAAACCCCAAAGCTTCTCTCCACAGTGCCATGCGTCTACTGAGTACTCTGCTTAGCTTTTACCCCTTCAGCAACTGCTTTTTGCTCAGTTTCTGTGATTCTCACCCACCCGTGTGGCTTAGGAATTCACAAGTGTTTCCAGAGGAAGTTGTGTGAAAGGTGGCTAGAGGACCAGAATCTTTTTCCCTCGTGTCCTGGCTGTCCTGTGGCCCTGGACTCCACATTTTTATCACTAGCCCACTGGGCCCCCACCCTGTTGGGTGTCAGTGCTCCCCAAACTGACAAGTGCCCTGAGGAGGAAACGCTCGGATGCAGGCGCAGCTCAGTTCATTTCCTTTCTATGTGGGATCCTCACCTTCTATGTCTTTCTTGGTCTCCAAAGCCTCACACAGCTGTTCCTTGCTGTTGGCATCACTTAGTCTCGCAGTCCCTGGTGTTTCCATCAGGAAAGTCAGGCAGGCGTTAGCTTCACTGCCAGGAGGGAATCTCCTGTGGCCTCCATGGCGCTGTGTTTTCTTCCAGTCTTTTTTCTATGCACAGACACATCATCCCCTTTGTTTCCTTTTGTGATGCTGTTTCTAAAAGGATCTTTATTTCTAGAAGAAACTTTAGGAGGCAAAAACAGCGCAGCCCCCTTAACAGAGTGGCTCTGGTGGCAACTTTCCCTTGTTAATTTGTCCTGTAGCCCCTACTTTCCCAAGCGCTTGCTGTTTGTGGGGCTACAGGACACAGCAGCTGAAAGGGGCTGTGGGCATCGCCAGCATGTACCCTCTTATCCCATTTGCTGACAAGGATCCTGAAGGCCCAAGCATAGAAAGAAGTTGCTATGGCTGCCATGTGTCAGCAGCATAGCCATGGCCAACTCAGGGCCCTGACTCCTACCTGACCCCCTTCTGAATGACACTCAAGGTAAGGGTCCCCTTCCCACTCACAGATGAGGTGAAACATTTCACCTTGAAAAGCCTCTTGCCCCCAGCCTCCCCTCGAGCCCACACTGGGACATGGCCTAAGTATCTCCATCCCATGGAGTTGAACACTCTCCTTGTTTCTGGAAGGATCCAGTCTGCGTGCTCCTCAGGCAGTGCAGGGGCAGTGAGGGGATGACCAGCACAGGGTGGCCACTCACAATCTCCTCTCCTCTCTCCACTGCGCTGCGGGAACACCATCGGGCCACCATTAAGGTCATTCGACGCATGCAGTACTTTGTGGCCAAGAAGAAATTCCAGGTAAGCCCTGTGCTGAGCCTTCCTGCCCTCAGCCTGCCCCTCGCAGCCTGATGCAGCTGCCCACACCTCTCCTGGGTTCTCTCCTGCCCATAGTGGAGGGTGTCAAGGCCTCCGCCCCCAAGCCACACAGGCAGGCCTATCTGAGACCTGACAGTGCCTACCCCACCGAACCCCAGACAGCAGGCCCCTCAGAGGACCTATCCTTGGAGGCCCGGCCTGGAACCAGGGACACATGCAGTGTCTTCTTCACCAAGTAGAAGGCAGCAGCCGTGTAGCTCACTCAGTCCTCCCGTGGGGTGGGTCGTGCAAGGCAGCATTAGTGAGAGATGTGAGGGTGACATCAGAATGACTCAGAGATGGTGCGGAGCCTGCCCTGAGTCACCAAGCTGGGAAGGCAGGTCCCCCAGACCCCCCAGCCCTGTCCTCCACTGGCTCAGTGCTCTCATTCCCTGCTCCTCCACCCTCTGTGAGTTGGGAGGATGGAGGGAGGCTGGGCCCTGCTCTGTAAGAGGTGGGGTCCCCTTGGCCAGGTGAGGCTGGAGCTCCAGGGCTTCCATAAGCTGCCCTAACTTCTCCAGGGGCATGTCCCCCCTACAGAAGCCCCTTAGAGCCCCCAGAGTCCATGCCCCGCAGAGAATGCCATTGATGGCAGGCATGTCTCCCCTCCTGCCTTGGGGACATTCCTCGGATGAAGGCGGTGGTGGGGGGTACTGAGTCCTGGCTTGGAAATACATGTGTAGGTGTGGGAACCCCGTATCCTCTGTGGTGGGTGATCCAGAAGGCAAAAATCACAAAGCAGGGAAGGCTGGGGGGTGACTTGCCTGAGTCCCTTGGAGCGGGGGGCGTGTGACGTGCTTGAGTGAGTGCGTGTCTGCAGGAGCAGGGCAGGGTGGGGCTTCTGAGCTGGGGGCCCCTGGCACCTCAGCCACAGCCTCACCAGTCATAAGGCACAGCCCAGGAAGGCTCAGCAATGTCCGCCGACCACCAGGACCCACAGTCGGTGGCATCCCAGCCCACCAAGACTTATCCTGGAGCCACTGAGCTCCCTGCTAGGGTCTGGTCAGGGCTTATGGGGGCCTTTGTCAAGAGGTCGTTGGGTCGGGCTGGGAAGATCATCTTGACTTCAGGAGCCTGAGATGAGCCAAGATAATGCACAGCCCATCCAGACGGACTGACAGTGGCATTCAAGTCTGGTCCCCCTGCAGCCATGTCTTTCACACCAGGCCACACCTTCCACTCCAGGCCCCAGGATTGACACAGGCCCGCCCACAGTCTCCTTGGTGGAGCCCCCACCCATCTGGGCCCTGGAGCCACCTCAGCCTCCAGACTTCACAGGGCGGTCTGGGTGCAGACCCTGGCACAGGCAGCCCTGGGCAAGTTCTTCCCCAGCTGTGAGGGGAATGAGAGCCTAAGGGTTTGGCATAAGATCATATGCACGTGCCTCACCCGGGCCTTGCCCCCAGCAACCCCAGGCCAGCACCCGCTAGGCTCGTCGTCACTCTGAGCCCCAAGAGCAGCCCTCGGCCAGGCCCTTGCCAAGAGCAGTATGCGGGCCCTCGTTCTGGCCACCGGGCCACCATCTCCAGGGGGGTTTCGCATGCACAGCCCTCCCACAGTGGTGTTTCTCAGCTGGCCCTCCCACCTGCATCCCCCCAGGGAAGGGGGTGGTTCATGACTCAACTGAACCAAGTTGTGTCAAAGCTCCCAGCAGTGCCTGGGACCTCTTGCAGTCAAAATAAAAGCCATGGCAAATGCCACTGCTGGCCAGTGCCCGGAGATCTGCCTGGCATGTTCTAGGGGAGATCTGACAGCCCCTGTGGACCAGGGTGTCTCCATTCTGGGACCGTCTCCTCTCTCTGGTGCTGGCATGGAGGGCCTTGCTGGAGCAGGGAGCTCACTCGGGGGCAATGGAAGAGAGAGGCCAGCCTCCTGGCAGCACCAGTGCTCTCCCAGACAGGGAAGGGGCTGCNN
pathogenic
170,898
Does the chromosome 11 mutation at position 2776027 within gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome']
AGCATCCCATCTTATAGAAGACAGAGACAGGGTTCAGCATCCCATCTTACAGAAAAGAGAATTAAGACTCAACATCCCATTTCATAGAAGAGAACTCAGTATCTCCATCTTATAGGAAGGAGAAACAGGGCTCAGCATCCCCTTTTACGGAAGAGAGAGACAGGGCTCAGCATTTTATCTTACAGAAGAGAGAAGAAGGACTTAGCATTCCCATATTACAGGAGAAACTGAGACCTGAGGATGTTATTACTAGCCTGTACATAAGTACGGTTTTTACGGGCCAGAGGGTCTGCCTAGAGTCCAACCCCATGCCTGCCTCTATCACAGTTCTTGGTGTGTCATTTCTGGGCAATGCCGGCGATCCTGGTGCCCAGTGTGGCCCCAGGAGCAGCAGGCCCTTCCTTCCATGGGGCACAGCTGTGTTGTGAGGACACGGGCCCCATCCCAGCCCTCCTGATCTCAGGATCTCCCGTTCAGGGCCCAGAGAGTGGCTAGTGTTGCCAGTGAGGGCCCTACCTGCTTGTGTCAGGTGGAAGAGGAACCCCCTGAACTTCTGAGGCCCAGCCTTTGGTAGGGAGGAGGTCTCTGCCCTGTCTTGGGATTCCTGGGGTCCAAAACAATGTTGGGCGGGCTGTAAGAACTCCACCAAGCCTCCGGCATTGGTGGCAGAACCCCTGGGCATGTCAGAAGTGTGTCTAGAGCTGAAAGTGGGTACATGGAGACCTGACCTCAGGGTCTCCCCATCTGGGAACTTGCTGCTTCCCAGGGTAGAAGTGGCTGCATCCTCAGATTAAGGTCACCCTGGTCTCAGGAGTAGGACCCCAAAGAGAGGTAGCAGGTGGGCAGGGAGGGCATGTTCCCAGACCCAGCCCGGGCCCTCAACGGTACCTGAGCTTCCTCCTTTCTCATCCTGGGCCTCAATTGCCTCCCTCTGACTTGGGCTGGCCCTGCCCCACCCCTCCCCACCAAGCCGCTTGGCTCGTCTCTTGGGCCTTGCAAATTCCCCAGCAAAAGGCAGGAAAGCCACTAGCTCAGTGCTAAGGTGGCTATTTGAGCACTAATGATGACTACCCTGGGCCTCACCCGGTCACCCAGTGGCCTCTCGGGATAGAGGCAGTCTGTTGTCCTATGTGCTGGCTTGCCTGCAGGGCCAAGGCCTTCCTAGGCCATCAAACCCCTGCTCAGCCTGGCTGCTCCACCTGAGTGAGGCCCTTGGGAGCAAGGCCACAAATGTGGCTTGGGGTTTCCTGATATCATGAGATGCTTTGTTTTCTCTGTTGTGGTTTCAAGATGTCACCTGAGTCCCACTTATAGGCTTAGAGCTGGCAACAAGCCTGGGAGCCCTGGGGTCCCCTGCCCTGCCTCACATGGCCCCAGCCCCACTGTGGGAGCCCAAGCAGATGCTCGTCACCCACAGCAAGTGCTGCAGGCTAAGGCCGTCATCTGGGGCCACCCCTGCTGCCTGGCACAAACTGCCAGGAACGATGCAGAGGAGACCCGCTCCCTACCCTGAGGACAGTGGCGGCTGCAGCCAGTGAGCATGTCAAGGGTCAGTCTGGGGCCCAGGTAGGTAGTGGGCATGCAGAGCTGTGCCTCCTGGTCAGTGCCTGGCACTGTGCTGCTCCTTGACCCCTTGGGGGGGCCAGCTCTTCCTGAAGCCATTGAGAACCAGAACTGGTAGCCTGGGGTGGTGGGGGGTGGAAGGGAGGAGACAGCAGGCCCCTGCCGGTGAGTAGACAGGAAGCTGGGACCCAGAGAGGCCGAGCTGATGGCCCAGGACTACCCAGAGACCCATGGCCAAGCTGATGGGGACAAGCTTCGCTACTGTGCACGCTTGGAACCAGGCTTATGCCATCACCACATAGGCGAGCTCCCAGGTCTTCACAAGCCTCCCGAGGGCAGACACTGTCACTGCCTGCACTTTGAGCCACATGGCTGGGGCACAGGGAGGAGAAGTGATGCGTGTCTTTTTGTCCCGCAGCAAGCGCGGAAGCCTTACGATGTGCGGGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCCGCCCGGATCTGAGATGATGGGGGAATTGGGGTAGGGGAGGCGCGTAGGGGAGGCAAACACCCGCCTCCGTCCCTGCTCAGGTAGCAACACCAGCTTCACACTCCCCACAACTTCAGGACACTCGGCAGCCAGCCCACCCGCCTTCCCTGTCACCTCTGAGCAAGGGGCCAGGCCCAGCCCTGGGAAGACACTGCCTGGTGCCAGGCCCCACCGCACGGGTCTCCCCCAGACTGGCCTGGAGCTGGAGACCCTGACTGTGGGGAGCTAATGTGTTCCCATGGAGCTAGCACCATCCTCCCGGGCCTGCACAGACTCAGAGCAGCTGTGCCTCCGAGATGGGCTCGCCTGGGAACTAGCTCCGTGTGTTACAGGGCATGGCTGGGAGCCCGTGTCCATCCTGGCCACAGGCGAGGGGTCAGGCTGCCTTGCCCATGGCTGATCCACTGCCTCCCACTCCTACCCCCAGGGAGGAAGTCTGAGAGGCAGCCCACCGACTCCCCCTTTCCGAGATCCCTGCTCAGCCCCCTCGGGAGCATGGCCCTCTGGGGGGTTGGGAGTGACCTGGCAGGCCTTAGGGTCGGGGGTGTCCCCAGAGTGGGTGGACAGTCCACTGTCTTGCCGGGCACGTCAAGCTGTCTGTCCCACAGACGACAGTGCATCTGCGCAGTGCCAGGGCCAGGTGTGAACTGGTGTCTGTGTCCTTCTCTCCAGGCTGGACCAGTCCATTGGGAAGCCCTCACTGTTCATCTCCGTCTCAGGTGGGTTTCTGTGTCAGTTACTCTGGGCCCAGCAGCCTGCAATGGACTCTCCCGCACCTCTGCCCTCCTGGCTCTCCCCATGATGTCAGAATGGGCCATTGCACCTCCAAAGTGCATGACATGAAATGAAAGCCAGGGAGTAAGGGGAGGTAGACCCCACCCTTAGCAAAGTGGCTCCAAAGTACATTTTACAAAGGAATATTCAGGTTTCATAAGAACCTACCTGGGTCCCTTTAAATTCCAGGGCGTTGAGGTTAGGCTCTAGGTGTGGAAACATGAACCCAGGGCAACTTTGCAGAAGGGGGTGATCCTGGGGTGGGGTTTGGGTGGGGTGAGCTGCCAGCCCAGAATTCAAGAGACTATGGGTGGGGGCCTTGCAGGGCTCAAGTTGAGAGGGACAGAAGCACCTGGCTGCAGCCTGGGGGCTGGTTTTCTGGCTCCTTGACCAAATTCCTTGGGTCCCCTGGACACGGGGCTGTGAGTCATTCCGGGGAATGACAGGGAAAAGGCACATTCCCTGGGGTTTCCCTAGCCCAGATGCAAACAGCAGCCACGGCTCATAGTGTGGGCTGGTGTAACGGAGCAGCGGAATGGCTGTGCCCCCAGCCTGGAGTCAGGCCTGTGTCGCCCTGGGAGTGGAATGGCATGGGCTTGCACAGCTGGCAGTGTGGCCAGCTTAGGCAGCCCCCTAGGGCTCTCAGAGGTCAGAGGTGGAGAGCGTGGAGCAGGATGGAGCCCAGGTCCCCAGCTGCAGCCATGCCCGGCCACCGTACCACCCCTGGTATTTTTGTCATAGCATGCTTTTTAAAAATGTCCTAGTAGGTTTAGGCATTTTGACTCTCAGCTACCTCCCCCAGCCCTACCACCCCACTTCCCAAGCCCAGCTGGGGTCCCCGGCCCACCCCAGCACTTGGCCCTGATTTGGGTGTTTTATCCCCCATAGAAAAGAGCAAGGATCGCGGCAGCAACACGATCGGCGCCCGCCTGAACCGAGTAGAAGACAAGGTAGGCTCACGCGCCGGCCTGCGGTGGTTCTGGTTAG
AGCATCCCATCTTATAGAAGACAGAGACAGGGTTCAGCATCCCATCTTACAGAAAAGAGAATTAAGACTCAACATCCCATTTCATAGAAGAGAACTCAGTATCTCCATCTTATAGGAAGGAGAAACAGGGCTCAGCATCCCCTTTTACGGAAGAGAGAGACAGGGCTCAGCATTTTATCTTACAGAAGAGAGAAGAAGGACTTAGCATTCCCATATTACAGGAGAAACTGAGACCTGAGGATGTTATTACTAGCCTGTACATAAGTACGGTTTTTACGGGCCAGAGGGTCTGCCTAGAGTCCAACCCCATGCCTGCCTCTATCACAGTTCTTGGTGTGTCATTTCTGGGCAATGCCGGCGATCCTGGTGCCCAGTGTGGCCCCAGGAGCAGCAGGCCCTTCCTTCCATGGGGCACAGCTGTGTTGTGAGGACACGGGCCCCATCCCAGCCCTCCTGATCTCAGGATCTCCCGTTCAGGGCCCAGAGAGTGGCTAGTGTTGCCAGTGAGGGCCCTACCTGCTTGTGTCAGGTGGAAGAGGAACCCCCTGAACTTCTGAGGCCCAGCCTTTGGTAGGGAGGAGGTCTCTGCCCTGTCTTGGGATTCCTGGGGTCCAAAACAATGTTGGGCGGGCTGTAAGAACTCCACCAAGCCTCCGGCATTGGTGGCAGAACCCCTGGGCATGTCAGAAGTGTGTCTAGAGCTGAAAGTGGGTACATGGAGACCTGACCTCAGGGTCTCCCCATCTGGGAACTTGCTGCTTCCCAGGGTAGAAGTGGCTGCATCCTCAGATTAAGGTCACCCTGGTCTCAGGAGTAGGACCCCAAAGAGAGGTAGCAGGTGGGCAGGGAGGGCATGTTCCCAGACCCAGCCCGGGCCCTCAACGGTACCTGAGCTTCCTCCTTTCTCATCCTGGGCCTCAATTGCCTCCCTCTGACTTGGGCTGGCCCTGCCCCACCCCTCCCCACCAAGCCGCTTGGCTCGTCTCTTGGGCCTTGCAAATTCCCCAGCAAAAGGCAGGAAAGCCACTAGCTCAGTGCTAAGGTGGCTATTTGAGCACTAATGATGACTACCCTGGGCCTCACCCGGTCACCCAGTGGCCTCTCGGGATAGAGGCAGTCTGTTGTCCTATGTGCTGGCTTGCCTGCAGGGCCAAGGCCTTCCTAGGCCATCAAACCCCTGCTCAGCCTGGCTGCTCCACCTGAGTGAGGCCCTTGGGAGCAAGGCCACAAATGTGGCTTGGGGTTTCCTGATATCATGAGATGCTTTGTTTTCTCTGTTGTGGTTTCAAGATGTCACCTGAGTCCCACTTATAGGCTTAGAGCTGGCAACAAGCCTGGGAGCCCTGGGGTCCCCTGCCCTGCCTCACATGGCCCCAGCCCCACTGTGGGAGCCCAAGCAGATGCTCGTCACCCACAGCAAGTGCTGCAGGCTAAGGCCGTCATCTGGGGCCACCCCTGCTGCCTGGCACAAACTGCCAGGAACGATGCAGAGGAGACCCGCTCCCTACCCTGAGGACAGTGGCGGCTGCAGCCAGTGAGCATGTCAAGGGTCAGTCTGGGGCCCAGGTAGGTAGTGGGCATGCAGAGCTGTGCCTCCTGGTCAGTGCCTGGCACTGTGCTGCTCCTTGACCCCTTGGGGGGGCCAGCTCTTCCTGAAGCCATTGAGAACCAGAACTGGTAGCCTGGGGTGGTGGGGGGTGGAAGGGAGGAGACAGCAGGCCCCTGCCGGTGAGTAGACAGGAAGCTGGGACCCAGAGAGGCCGAGCTGATGGCCCAGGACTACCCAGAGACCCATGGCCAAGCTGATGGGGACAAGCTTCGCTACTGTGCACGCTTGGAACCAGGCTTATGCCATCACCACATAGGCGAGCTCCCAGGTCTTCACAAGCCTCCCGAGGGCAGACACTGTCACTGCCTGCACTTTGAGCCACATGGCTGGGGCACAGGGAGGAGAAGTGATGCGTGTCTTTTTGTCCCGCAGCAAGCGCGGAAGCCTTACGATGTGCGGGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCCGCCCGGATCTGAGATGATGGGGGAATTGGGGTAGGGGAGGCGCGTAGGGGAGGCAAACACCCGCCTCCGTCCCTGCTCAGGTAGCAACACCAGCTTCACACTCCCCACAACTTCAGGACACTCGGCAGCCAGCCCACCCGCCTTCCCTGTCACCTCTGAGCAAGGGGCCAGGCCCAGCCCTGGGAAGACACTGCCTGGTGCCAGGCCCCACCGCACGGGTCTCCCCCAGACTGGCCTGGAGCTGGAGACCCTGACTGTGGGGAGCTAATGTGTTCCCATGGAGCTAGCACCATCCTCCCGGGCCTGCACAGACTCAGAGCAGCTGTGCCTCCGAGATGGGCTCGCCTGGGAACTAGCTCCGTGTGTTACAGGGCATGGCTGGGAGCCCGTGTCCATCCTGGCCACAGGCGAGGGGTCAGGCTGCCTTGCCCATGGCTGATCCACTGCCTCCCACTCCTACCCCCAGGGAGGAAGTCTGAGAGGCAGCCCACCGACTCCCCCTTTCCGAGATCCCTGCTCAGCCCCCTCGGGAGCATGGCCCTCTGGGGGGTTGGGAGTGACCTGGCAGGCCTTAGGGTCGGGGGTGTCCCCAGAGTGGGTGGACAGTCCACTGTCTTGCCGGGCACGTCAAGCTGTCTGTCCCACAGACGACAGTGCATCTGCGCAGTGCCAGGGCCAGGTGTGAACTGGTGTCTGTGTCCTTCTCTCCAGGCTGGACCAGTCCATTGGGAAGCCCTCACTGTTCATCTCCGTCTCAGGTGGGTTTCTGTGTCAGTTACTCTGGGCCCAGCAGCCTGCAATGGACTCTCCCGCACCTCTGCCCTCCTGGCTCTCCCCATGATGTCAGAATGGGCCATTGCACCTCCAAAGTGCATGACATGAAATGAAAGCCAGGGAGTAAGGGGAGGTAGACCCCACCCTTAGCAAAGTGGCTCCAAAGTACATTTTACAAAGGAATATTCAGGTTTCATAAGAACCTACCTGGGTCCCTTTAAATTCCAGGGCGTTGAGGTTAGGCTCTAGGTGTGGAAACATGAACCCAGGGCAACTTTGCAGAAGGGGGTGATCCTGGGGTGGGGTTTGGGTGGGGTGAGCTGCCAGCCCAGAATTCAAGAGACTATGGGTGGGGGCCTTGCAGGGCTCAAGTTGAGAGGGACAGAAGCACCTGGCTGCAGCCTGGGGGCTGGTTTTCTGGCTCCTTGACCAAATTCCTTGGGTCCCCTGGACACGGGGCTGTGAGTCATTCCGGGGAATGACAGGGAAAAGGCACATTCCCTGGGGTTTCCCTAGCCCAGATGCAAACAGCAGCCACGGCTCATAGTGTGGGCTGGTGTAACGGAGCAGCGGAATGGCTGTGCCCCCAGCCTGGAGTCAGGCCTGTGTCGCCCTGGGAGTGGAATGGCATGGGCTTGCACAGCTGGCAGTGTGGCCAGCTTAGGCAGCCCCCTAGGGCTCTCAGAGGTCAGAGGTGGAGAGCGTGGAGCAGGATGGAGCCCAGGTCCCCAGCTGCAGCCATGCCCGGCCACCGTACCACCCCTGGTATTTTTGTCATAGCATGCTTTTTAAAAATGTCCTAGTAGGTTTAGGCATTTTGACTCTCAGCTACCTCCCCCAGCCCTACCACCCCACTTCCCAAGCCCAGCTGGGGTCCCCGGCCCACCCCAGCACTTGGCCCTGATTTGGGTGTTTTATCCCCCATAGAAAAGAGCAAGGATCGCGGCAGCAACACGATCGGCGCCCGCCTGAACCGAGTAGAAGACAAGGTAGGCTCACGCGCCGGCCTGCGGTGGTTCTGGTTAGN
pathogenic
170,925
A genetic alteration at chromosome 11, position 2776984, in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Congenital_long_QT_syndrome', 'Long_QT_syndrome']
CCTCCCCACCAAGCCGCTTGGCTCGTCTCTTGGGCCTTGCAAATTCCCCAGCAAAAGGCAGGAAAGCCACTAGCTCAGTGCTAAGGTGGCTATTTGAGCACTAATGATGACTACCCTGGGCCTCACCCGGTCACCCAGTGGCCTCTCGGGATAGAGGCAGTCTGTTGTCCTATGTGCTGGCTTGCCTGCAGGGCCAAGGCCTTCCTAGGCCATCAAACCCCTGCTCAGCCTGGCTGCTCCACCTGAGTGAGGCCCTTGGGAGCAAGGCCACAAATGTGGCTTGGGGTTTCCTGATATCATGAGATGCTTTGTTTTCTCTGTTGTGGTTTCAAGATGTCACCTGAGTCCCACTTATAGGCTTAGAGCTGGCAACAAGCCTGGGAGCCCTGGGGTCCCCTGCCCTGCCTCACATGGCCCCAGCCCCACTGTGGGAGCCCAAGCAGATGCTCGTCACCCACAGCAAGTGCTGCAGGCTAAGGCCGTCATCTGGGGCCACCCCTGCTGCCTGGCACAAACTGCCAGGAACGATGCAGAGGAGACCCGCTCCCTACCCTGAGGACAGTGGCGGCTGCAGCCAGTGAGCATGTCAAGGGTCAGTCTGGGGCCCAGGTAGGTAGTGGGCATGCAGAGCTGTGCCTCCTGGTCAGTGCCTGGCACTGTGCTGCTCCTTGACCCCTTGGGGGGGCCAGCTCTTCCTGAAGCCATTGAGAACCAGAACTGGTAGCCTGGGGTGGTGGGGGGTGGAAGGGAGGAGACAGCAGGCCCCTGCCGGTGAGTAGACAGGAAGCTGGGACCCAGAGAGGCCGAGCTGATGGCCCAGGACTACCCAGAGACCCATGGCCAAGCTGATGGGGACAAGCTTCGCTACTGTGCACGCTTGGAACCAGGCTTATGCCATCACCACATAGGCGAGCTCCCAGGTCTTCACAAGCCTCCCGAGGGCAGACACTGTCACTGCCTGCACTTTGAGCCACATGGCTGGGGCACAGGGAGGAGAAGTGATGCGTGTCTTTTTGTCCCGCAGCAAGCGCGGAAGCCTTACGATGTGCGGGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCCGCCCGGATCTGAGATGATGGGGGAATTGGGGTAGGGGAGGCGCGTAGGGGAGGCAAACACCCGCCTCCGTCCCTGCTCAGGTAGCAACACCAGCTTCACACTCCCCACAACTTCAGGACACTCGGCAGCCAGCCCACCCGCCTTCCCTGTCACCTCTGAGCAAGGGGCCAGGCCCAGCCCTGGGAAGACACTGCCTGGTGCCAGGCCCCACCGCACGGGTCTCCCCCAGACTGGCCTGGAGCTGGAGACCCTGACTGTGGGGAGCTAATGTGTTCCCATGGAGCTAGCACCATCCTCCCGGGCCTGCACAGACTCAGAGCAGCTGTGCCTCCGAGATGGGCTCGCCTGGGAACTAGCTCCGTGTGTTACAGGGCATGGCTGGGAGCCCGTGTCCATCCTGGCCACAGGCGAGGGGTCAGGCTGCCTTGCCCATGGCTGATCCACTGCCTCCCACTCCTACCCCCAGGGAGGAAGTCTGAGAGGCAGCCCACCGACTCCCCCTTTCCGAGATCCCTGCTCAGCCCCCTCGGGAGCATGGCCCTCTGGGGGGTTGGGAGTGACCTGGCAGGCCTTAGGGTCGGGGGTGTCCCCAGAGTGGGTGGACAGTCCACTGTCTTGCCGGGCACGTCAAGCTGTCTGTCCCACAGACGACAGTGCATCTGCGCAGTGCCAGGGCCAGGTGTGAACTGGTGTCTGTGTCCTTCTCTCCAGGCTGGACCAGTCCATTGGGAAGCCCTCACTGTTCATCTCCGTCTCAGGTGGGTTTCTGTGTCAGTTACTCTGGGCCCAGCAGCCTGCAATGGACTCTCCCGCACCTCTGCCCTCCTGGCTCTCCCCATGATGTCAGAATGGGCCATTGCACCTCCAAAGTGCATGACATGAAATGAAAGCCAGGGAGTAAGGGGAGGTAGACCCCACCCTTAGCAAAGTGGCTCCAAAGTACATTTTACAAAGGAATATTCAGGTTTCATAAGAACCTACCTGGGTCCCTTTAAATTCCAGGGCGTTGAGGTTAGGCTCTAGGTGTGGAAACATGAACCCAGGGCAACTTTGCAGAAGGGGGTGATCCTGGGGTGGGGTTTGGGTGGGGTGAGCTGCCAGCCCAGAATTCAAGAGACTATGGGTGGGGGCCTTGCAGGGCTCAAGTTGAGAGGGACAGAAGCACCTGGCTGCAGCCTGGGGGCTGGTTTTCTGGCTCCTTGACCAAATTCCTTGGGTCCCCTGGACACGGGGCTGTGAGTCATTCCGGGGAATGACAGGGAAAAGGCACATTCCCTGGGGTTTCCCTAGCCCAGATGCAAACAGCAGCCACGGCTCATAGTGTGGGCTGGTGTAACGGAGCAGCGGAATGGCTGTGCCCCCAGCCTGGAGTCAGGCCTGTGTCGCCCTGGGAGTGGAATGGCATGGGCTTGCACAGCTGGCAGTGTGGCCAGCTTAGGCAGCCCCCTAGGGCTCTCAGAGGTCAGAGGTGGAGAGCGTGGAGCAGGATGGAGCCCAGGTCCCCAGCTGCAGCCATGCCCGGCCACCGTACCACCCCTGGTATTTTTGTCATAGCATGCTTTTTAAAAATGTCCTAGTAGGTTTAGGCATTTTGACTCTCAGCTACCTCCCCCAGCCCTACCACCCCACTTCCCAAGCCCAGCTGGGGTCCCCGGCCCACCCCAGCACTTGGCCCTGATTTGGGTGTTTTATCCCCCATAGAAAAGAGCAAGGATCGCGGCAGCAACACGATCGGCGCCCGCCTGAACCGAGTAGAAGACAAGGTAGGCTCACGCGCCGGCCTGCGGTGGTTCTGGTTAGCGTCCTGGGGCCAGCAGGCACCTCCCTGTGGTCTGCGTGTGAACGTGAAGCTCCTGCAGGCCTCCCCACCTTCCCGCCAGTGCCTACTGCAGCCTGCCCAGCAACTCCCAAGAGGGGCCCAGGCCCACTGCCCACCTGGCGGGGCATTGGTCCCCCATGGAAGGAGCCAGGCCAGGCTGGTTTCTCATCCTCTGACAAGTGGCGTCTTTACTGGCAGGTGGCACCAAGTGCCCCCTCCCCCCAGCTCTTTCCCGCTGCCTCTCGTAGTCTGCTTTGTGCTCTGCGAGCCTCCTGGCTGTGTCCTGAGTGGAGGGTGGCAGAAGCTGGCCTCACATCCCAGCCTTCTCCTGGGCCCAGCTGTCTGGGGCCTCCACTTGGGGCCGGCCGAGGGCTCAGGGAGGTGCAGGGCCCAGCTGGGATGGGTTCATGGGAAGAGAGGCATCTTCTGTTCACCCCGAACCCACCAGGCCCCCACTCCCCACCAGGCTCTGTGCCCATCACTCGGTCCCTCAGGCCGGAGCCTCTCCCCCAGGCACCCTGGGAGCTGCCGGGGGATCTGGGCGGTGGGAGGGCCTTTCTCGGGCCCATGGCTGAGCCCACCACTGCCCTTTGAAGTCTCTGTGGTTTGAAGCGGGCTGTTATCTTGCCGAACAGCAAGTCCGTCTACATGGACTTTATCTGAAAGTAGCTGAGAGGCTAAAAATAGAGGAGTTTCAGTTGGGCAGGGAGTGCGTCTGCCGCCCGGTTTCCCTGGCAACGCCTGGCTCTGGCCTGCTTCCATCTCGGCTGCAGCCGGGCAGGCGGGGCAGGCACAGCCCGGCCCAGGCTCCTGCTCCTGCCCCACCCGTCCTGGCCCCCAGGACCTGCAGCGTCACCCTCTCCCCACCTGGCACCATCTGCCCATGGCCTGGGGCGGCCGTGGGGCCCTGAGACCAGCAAATTGGGTCATGCAGAAAG
CCTCCCCACCAAGCCGCTTGGCTCGTCTCTTGGGCCTTGCAAATTCCCCAGCAAAAGGCAGGAAAGCCACTAGCTCAGTGCTAAGGTGGCTATTTGAGCACTAATGATGACTACCCTGGGCCTCACCCGGTCACCCAGTGGCCTCTCGGGATAGAGGCAGTCTGTTGTCCTATGTGCTGGCTTGCCTGCAGGGCCAAGGCCTTCCTAGGCCATCAAACCCCTGCTCAGCCTGGCTGCTCCACCTGAGTGAGGCCCTTGGGAGCAAGGCCACAAATGTGGCTTGGGGTTTCCTGATATCATGAGATGCTTTGTTTTCTCTGTTGTGGTTTCAAGATGTCACCTGAGTCCCACTTATAGGCTTAGAGCTGGCAACAAGCCTGGGAGCCCTGGGGTCCCCTGCCCTGCCTCACATGGCCCCAGCCCCACTGTGGGAGCCCAAGCAGATGCTCGTCACCCACAGCAAGTGCTGCAGGCTAAGGCCGTCATCTGGGGCCACCCCTGCTGCCTGGCACAAACTGCCAGGAACGATGCAGAGGAGACCCGCTCCCTACCCTGAGGACAGTGGCGGCTGCAGCCAGTGAGCATGTCAAGGGTCAGTCTGGGGCCCAGGTAGGTAGTGGGCATGCAGAGCTGTGCCTCCTGGTCAGTGCCTGGCACTGTGCTGCTCCTTGACCCCTTGGGGGGGCCAGCTCTTCCTGAAGCCATTGAGAACCAGAACTGGTAGCCTGGGGTGGTGGGGGGTGGAAGGGAGGAGACAGCAGGCCCCTGCCGGTGAGTAGACAGGAAGCTGGGACCCAGAGAGGCCGAGCTGATGGCCCAGGACTACCCAGAGACCCATGGCCAAGCTGATGGGGACAAGCTTCGCTACTGTGCACGCTTGGAACCAGGCTTATGCCATCACCACATAGGCGAGCTCCCAGGTCTTCACAAGCCTCCCGAGGGCAGACACTGTCACTGCCTGCACTTTGAGCCACATGGCTGGGGCACAGGGAGGAGAAGTGATGCGTGTCTTTTTGTCCCGCAGCAAGCGCGGAAGCCTTACGATGTGCGGGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCCGCCCGGATCTGAGATGATGGGGGAATTGGGGTAGGGGAGGCGCGTAGGGGAGGCAAACACCCGCCTCCGTCCCTGCTCAGGTAGCAACACCAGCTTCACACTCCCCACAACTTCAGGACACTCGGCAGCCAGCCCACCCGCCTTCCCTGTCACCTCTGAGCAAGGGGCCAGGCCCAGCCCTGGGAAGACACTGCCTGGTGCCAGGCCCCACCGCACGGGTCTCCCCCAGACTGGCCTGGAGCTGGAGACCCTGACTGTGGGGAGCTAATGTGTTCCCATGGAGCTAGCACCATCCTCCCGGGCCTGCACAGACTCAGAGCAGCTGTGCCTCCGAGATGGGCTCGCCTGGGAACTAGCTCCGTGTGTTACAGGGCATGGCTGGGAGCCCGTGTCCATCCTGGCCACAGGCGAGGGGTCAGGCTGCCTTGCCCATGGCTGATCCACTGCCTCCCACTCCTACCCCCAGGGAGGAAGTCTGAGAGGCAGCCCACCGACTCCCCCTTTCCGAGATCCCTGCTCAGCCCCCTCGGGAGCATGGCCCTCTGGGGGGTTGGGAGTGACCTGGCAGGCCTTAGGGTCGGGGGTGTCCCCAGAGTGGGTGGACAGTCCACTGTCTTGCCGGGCACGTCAAGCTGTCTGTCCCACAGACGACAGTGCATCTGCGCAGTGCCAGGGCCAGGTGTGAACTGGTGTCTGTGTCCTTCTCTCCAGCTGGACCAGTCCATTGGGAAGCCCTCACTGTTCATCTCCGTCTCAGGTGGGTTTCTGTGTCAGTTACTCTGGGCCCAGCAGCCTGCAATGGACTCTCCCGCACCTCTGCCCTCCTGGCTCTCCCCATGATGTCAGAATGGGCCATTGCACCTCCAAAGTGCATGACATGAAATGAAAGCCAGGGAGTAAGGGGAGGTAGACCCCACCCTTAGCAAAGTGGCTCCAAAGTACATTTTACAAAGGAATATTCAGGTTTCATAAGAACCTACCTGGGTCCCTTTAAATTCCAGGGCGTTGAGGTTAGGCTCTAGGTGTGGAAACATGAACCCAGGGCAACTTTGCAGAAGGGGGTGATCCTGGGGTGGGGTTTGGGTGGGGTGAGCTGCCAGCCCAGAATTCAAGAGACTATGGGTGGGGGCCTTGCAGGGCTCAAGTTGAGAGGGACAGAAGCACCTGGCTGCAGCCTGGGGGCTGGTTTTCTGGCTCCTTGACCAAATTCCTTGGGTCCCCTGGACACGGGGCTGTGAGTCATTCCGGGGAATGACAGGGAAAAGGCACATTCCCTGGGGTTTCCCTAGCCCAGATGCAAACAGCAGCCACGGCTCATAGTGTGGGCTGGTGTAACGGAGCAGCGGAATGGCTGTGCCCCCAGCCTGGAGTCAGGCCTGTGTCGCCCTGGGAGTGGAATGGCATGGGCTTGCACAGCTGGCAGTGTGGCCAGCTTAGGCAGCCCCCTAGGGCTCTCAGAGGTCAGAGGTGGAGAGCGTGGAGCAGGATGGAGCCCAGGTCCCCAGCTGCAGCCATGCCCGGCCACCGTACCACCCCTGGTATTTTTGTCATAGCATGCTTTTTAAAAATGTCCTAGTAGGTTTAGGCATTTTGACTCTCAGCTACCTCCCCCAGCCCTACCACCCCACTTCCCAAGCCCAGCTGGGGTCCCCGGCCCACCCCAGCACTTGGCCCTGATTTGGGTGTTTTATCCCCCATAGAAAAGAGCAAGGATCGCGGCAGCAACACGATCGGCGCCCGCCTGAACCGAGTAGAAGACAAGGTAGGCTCACGCGCCGGCCTGCGGTGGTTCTGGTTAGCGTCCTGGGGCCAGCAGGCACCTCCCTGTGGTCTGCGTGTGAACGTGAAGCTCCTGCAGGCCTCCCCACCTTCCCGCCAGTGCCTACTGCAGCCTGCCCAGCAACTCCCAAGAGGGGCCCAGGCCCACTGCCCACCTGGCGGGGCATTGGTCCCCCATGGAAGGAGCCAGGCCAGGCTGGTTTCTCATCCTCTGACAAGTGGCGTCTTTACTGGCAGGTGGCACCAAGTGCCCCCTCCCCCCAGCTCTTTCCCGCTGCCTCTCGTAGTCTGCTTTGTGCTCTGCGAGCCTCCTGGCTGTGTCCTGAGTGGAGGGTGGCAGAAGCTGGCCTCACATCCCAGCCTTCTCCTGGGCCCAGCTGTCTGGGGCCTCCACTTGGGGCCGGCCGAGGGCTCAGGGAGGTGCAGGGCCCAGCTGGGATGGGTTCATGGGAAGAGAGGCATCTTCTGTTCACCCCGAACCCACCAGGCCCCCACTCCCCACCAGGCTCTGTGCCCATCACTCGGTCCCTCAGGCCGGAGCCTCTCCCCCAGGCACCCTGGGAGCTGCCGGGGGATCTGGGCGGTGGGAGGGCCTTTCTCGGGCCCATGGCTGAGCCCACCACTGCCCTTTGAAGTCTCTGTGGTTTGAAGCGGGCTGTTATCTTGCCGAACAGCAAGTCCGTCTACATGGACTTTATCTGAAAGTAGCTGAGAGGCTAAAAATAGAGGAGTTTCAGTTGGGCAGGGAGTGCGTCTGCCGCCCGGTTTCCCTGGCAACGCCTGGCTCTGGCCTGCTTCCATCTCGGCTGCAGCCGGGCAGGCGGGGCAGGCACAGCCCGGCCCAGGCTCCTGCTCCTGCCCCACCCGTCCTGGCCCCCAGGACCTGCAGCGTCACCCTCTCCCCACCTGGCACCATCTGCCCATGGCCTGGGGCGGCCGTGGGGCCCTGAGACCAGCAAATTGGGTCATGCAGAAAGN
pathogenic
170,938
Is the variant located on chromosome 11 at position 2777007, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), benign or pathogenic? If pathogenic, specify the disease(s) linked.
pathogenic; ['Long_QT_syndrome', 'Long_QT_syndrome_1']
CGTCTCTTGGGCCTTGCAAATTCCCCAGCAAAAGGCAGGAAAGCCACTAGCTCAGTGCTAAGGTGGCTATTTGAGCACTAATGATGACTACCCTGGGCCTCACCCGGTCACCCAGTGGCCTCTCGGGATAGAGGCAGTCTGTTGTCCTATGTGCTGGCTTGCCTGCAGGGCCAAGGCCTTCCTAGGCCATCAAACCCCTGCTCAGCCTGGCTGCTCCACCTGAGTGAGGCCCTTGGGAGCAAGGCCACAAATGTGGCTTGGGGTTTCCTGATATCATGAGATGCTTTGTTTTCTCTGTTGTGGTTTCAAGATGTCACCTGAGTCCCACTTATAGGCTTAGAGCTGGCAACAAGCCTGGGAGCCCTGGGGTCCCCTGCCCTGCCTCACATGGCCCCAGCCCCACTGTGGGAGCCCAAGCAGATGCTCGTCACCCACAGCAAGTGCTGCAGGCTAAGGCCGTCATCTGGGGCCACCCCTGCTGCCTGGCACAAACTGCCAGGAACGATGCAGAGGAGACCCGCTCCCTACCCTGAGGACAGTGGCGGCTGCAGCCAGTGAGCATGTCAAGGGTCAGTCTGGGGCCCAGGTAGGTAGTGGGCATGCAGAGCTGTGCCTCCTGGTCAGTGCCTGGCACTGTGCTGCTCCTTGACCCCTTGGGGGGGCCAGCTCTTCCTGAAGCCATTGAGAACCAGAACTGGTAGCCTGGGGTGGTGGGGGGTGGAAGGGAGGAGACAGCAGGCCCCTGCCGGTGAGTAGACAGGAAGCTGGGACCCAGAGAGGCCGAGCTGATGGCCCAGGACTACCCAGAGACCCATGGCCAAGCTGATGGGGACAAGCTTCGCTACTGTGCACGCTTGGAACCAGGCTTATGCCATCACCACATAGGCGAGCTCCCAGGTCTTCACAAGCCTCCCGAGGGCAGACACTGTCACTGCCTGCACTTTGAGCCACATGGCTGGGGCACAGGGAGGAGAAGTGATGCGTGTCTTTTTGTCCCGCAGCAAGCGCGGAAGCCTTACGATGTGCGGGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCCGCCCGGATCTGAGATGATGGGGGAATTGGGGTAGGGGAGGCGCGTAGGGGAGGCAAACACCCGCCTCCGTCCCTGCTCAGGTAGCAACACCAGCTTCACACTCCCCACAACTTCAGGACACTCGGCAGCCAGCCCACCCGCCTTCCCTGTCACCTCTGAGCAAGGGGCCAGGCCCAGCCCTGGGAAGACACTGCCTGGTGCCAGGCCCCACCGCACGGGTCTCCCCCAGACTGGCCTGGAGCTGGAGACCCTGACTGTGGGGAGCTAATGTGTTCCCATGGAGCTAGCACCATCCTCCCGGGCCTGCACAGACTCAGAGCAGCTGTGCCTCCGAGATGGGCTCGCCTGGGAACTAGCTCCGTGTGTTACAGGGCATGGCTGGGAGCCCGTGTCCATCCTGGCCACAGGCGAGGGGTCAGGCTGCCTTGCCCATGGCTGATCCACTGCCTCCCACTCCTACCCCCAGGGAGGAAGTCTGAGAGGCAGCCCACCGACTCCCCCTTTCCGAGATCCCTGCTCAGCCCCCTCGGGAGCATGGCCCTCTGGGGGGTTGGGAGTGACCTGGCAGGCCTTAGGGTCGGGGGTGTCCCCAGAGTGGGTGGACAGTCCACTGTCTTGCCGGGCACGTCAAGCTGTCTGTCCCACAGACGACAGTGCATCTGCGCAGTGCCAGGGCCAGGTGTGAACTGGTGTCTGTGTCCTTCTCTCCAGGCTGGACCAGTCCATTGGGAAGCCCTCACTGTTCATCTCCGTCTCAGGTGGGTTTCTGTGTCAGTTACTCTGGGCCCAGCAGCCTGCAATGGACTCTCCCGCACCTCTGCCCTCCTGGCTCTCCCCATGATGTCAGAATGGGCCATTGCACCTCCAAAGTGCATGACATGAAATGAAAGCCAGGGAGTAAGGGGAGGTAGACCCCACCCTTAGCAAAGTGGCTCCAAAGTACATTTTACAAAGGAATATTCAGGTTTCATAAGAACCTACCTGGGTCCCTTTAAATTCCAGGGCGTTGAGGTTAGGCTCTAGGTGTGGAAACATGAACCCAGGGCAACTTTGCAGAAGGGGGTGATCCTGGGGTGGGGTTTGGGTGGGGTGAGCTGCCAGCCCAGAATTCAAGAGACTATGGGTGGGGGCCTTGCAGGGCTCAAGTTGAGAGGGACAGAAGCACCTGGCTGCAGCCTGGGGGCTGGTTTTCTGGCTCCTTGACCAAATTCCTTGGGTCCCCTGGACACGGGGCTGTGAGTCATTCCGGGGAATGACAGGGAAAAGGCACATTCCCTGGGGTTTCCCTAGCCCAGATGCAAACAGCAGCCACGGCTCATAGTGTGGGCTGGTGTAACGGAGCAGCGGAATGGCTGTGCCCCCAGCCTGGAGTCAGGCCTGTGTCGCCCTGGGAGTGGAATGGCATGGGCTTGCACAGCTGGCAGTGTGGCCAGCTTAGGCAGCCCCCTAGGGCTCTCAGAGGTCAGAGGTGGAGAGCGTGGAGCAGGATGGAGCCCAGGTCCCCAGCTGCAGCCATGCCCGGCCACCGTACCACCCCTGGTATTTTTGTCATAGCATGCTTTTTAAAAATGTCCTAGTAGGTTTAGGCATTTTGACTCTCAGCTACCTCCCCCAGCCCTACCACCCCACTTCCCAAGCCCAGCTGGGGTCCCCGGCCCACCCCAGCACTTGGCCCTGATTTGGGTGTTTTATCCCCCATAGAAAAGAGCAAGGATCGCGGCAGCAACACGATCGGCGCCCGCCTGAACCGAGTAGAAGACAAGGTAGGCTCACGCGCCGGCCTGCGGTGGTTCTGGTTAGCGTCCTGGGGCCAGCAGGCACCTCCCTGTGGTCTGCGTGTGAACGTGAAGCTCCTGCAGGCCTCCCCACCTTCCCGCCAGTGCCTACTGCAGCCTGCCCAGCAACTCCCAAGAGGGGCCCAGGCCCACTGCCCACCTGGCGGGGCATTGGTCCCCCATGGAAGGAGCCAGGCCAGGCTGGTTTCTCATCCTCTGACAAGTGGCGTCTTTACTGGCAGGTGGCACCAAGTGCCCCCTCCCCCCAGCTCTTTCCCGCTGCCTCTCGTAGTCTGCTTTGTGCTCTGCGAGCCTCCTGGCTGTGTCCTGAGTGGAGGGTGGCAGAAGCTGGCCTCACATCCCAGCCTTCTCCTGGGCCCAGCTGTCTGGGGCCTCCACTTGGGGCCGGCCGAGGGCTCAGGGAGGTGCAGGGCCCAGCTGGGATGGGTTCATGGGAAGAGAGGCATCTTCTGTTCACCCCGAACCCACCAGGCCCCCACTCCCCACCAGGCTCTGTGCCCATCACTCGGTCCCTCAGGCCGGAGCCTCTCCCCCAGGCACCCTGGGAGCTGCCGGGGGATCTGGGCGGTGGGAGGGCCTTTCTCGGGCCCATGGCTGAGCCCACCACTGCCCTTTGAAGTCTCTGTGGTTTGAAGCGGGCTGTTATCTTGCCGAACAGCAAGTCCGTCTACATGGACTTTATCTGAAAGTAGCTGAGAGGCTAAAAATAGAGGAGTTTCAGTTGGGCAGGGAGTGCGTCTGCCGCCCGGTTTCCCTGGCAACGCCTGGCTCTGGCCTGCTTCCATCTCGGCTGCAGCCGGGCAGGCGGGGCAGGCACAGCCCGGCCCAGGCTCCTGCTCCTGCCCCACCCGTCCTGGCCCCCAGGACCTGCAGCGTCACCCTCTCCCCACCTGGCACCATCTGCCCATGGCCTGGGGCGGCCGTGGGGCCCTGAGACCAGCAAATTGGGTCATGCAGAAAGAGCGAAGGCTGGTGTTCAGGTGC
CGTCTCTTGGGCCTTGCAAATTCCCCAGCAAAAGGCAGGAAAGCCACTAGCTCAGTGCTAAGGTGGCTATTTGAGCACTAATGATGACTACCCTGGGCCTCACCCGGTCACCCAGTGGCCTCTCGGGATAGAGGCAGTCTGTTGTCCTATGTGCTGGCTTGCCTGCAGGGCCAAGGCCTTCCTAGGCCATCAAACCCCTGCTCAGCCTGGCTGCTCCACCTGAGTGAGGCCCTTGGGAGCAAGGCCACAAATGTGGCTTGGGGTTTCCTGATATCATGAGATGCTTTGTTTTCTCTGTTGTGGTTTCAAGATGTCACCTGAGTCCCACTTATAGGCTTAGAGCTGGCAACAAGCCTGGGAGCCCTGGGGTCCCCTGCCCTGCCTCACATGGCCCCAGCCCCACTGTGGGAGCCCAAGCAGATGCTCGTCACCCACAGCAAGTGCTGCAGGCTAAGGCCGTCATCTGGGGCCACCCCTGCTGCCTGGCACAAACTGCCAGGAACGATGCAGAGGAGACCCGCTCCCTACCCTGAGGACAGTGGCGGCTGCAGCCAGTGAGCATGTCAAGGGTCAGTCTGGGGCCCAGGTAGGTAGTGGGCATGCAGAGCTGTGCCTCCTGGTCAGTGCCTGGCACTGTGCTGCTCCTTGACCCCTTGGGGGGGCCAGCTCTTCCTGAAGCCATTGAGAACCAGAACTGGTAGCCTGGGGTGGTGGGGGGTGGAAGGGAGGAGACAGCAGGCCCCTGCCGGTGAGTAGACAGGAAGCTGGGACCCAGAGAGGCCGAGCTGATGGCCCAGGACTACCCAGAGACCCATGGCCAAGCTGATGGGGACAAGCTTCGCTACTGTGCACGCTTGGAACCAGGCTTATGCCATCACCACATAGGCGAGCTCCCAGGTCTTCACAAGCCTCCCGAGGGCAGACACTGTCACTGCCTGCACTTTGAGCCACATGGCTGGGGCACAGGGAGGAGAAGTGATGCGTGTCTTTTTGTCCCGCAGCAAGCGCGGAAGCCTTACGATGTGCGGGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCCGCCCGGATCTGAGATGATGGGGGAATTGGGGTAGGGGAGGCGCGTAGGGGAGGCAAACACCCGCCTCCGTCCCTGCTCAGGTAGCAACACCAGCTTCACACTCCCCACAACTTCAGGACACTCGGCAGCCAGCCCACCCGCCTTCCCTGTCACCTCTGAGCAAGGGGCCAGGCCCAGCCCTGGGAAGACACTGCCTGGTGCCAGGCCCCACCGCACGGGTCTCCCCCAGACTGGCCTGGAGCTGGAGACCCTGACTGTGGGGAGCTAATGTGTTCCCATGGAGCTAGCACCATCCTCCCGGGCCTGCACAGACTCAGAGCAGCTGTGCCTCCGAGATGGGCTCGCCTGGGAACTAGCTCCGTGTGTTACAGGGCATGGCTGGGAGCCCGTGTCCATCCTGGCCACAGGCGAGGGGTCAGGCTGCCTTGCCCATGGCTGATCCACTGCCTCCCACTCCTACCCCCAGGGAGGAAGTCTGAGAGGCAGCCCACCGACTCCCCCTTTCCGAGATCCCTGCTCAGCCCCCTCGGGAGCATGGCCCTCTGGGGGGTTGGGAGTGACCTGGCAGGCCTTAGGGTCGGGGGTGTCCCCAGAGTGGGTGGACAGTCCACTGTCTTGCCGGGCACGTCAAGCTGTCTGTCCCACAGACGACAGTGCATCTGCGCAGTGCCAGGGCCAGGTGTGAACTGGTGTCTGTGTCCTTCTCTCCAGGCTGGACCAGTCCATTGGGAAGCCTCACTGTTCATCTCCGTCTCAGGTGGGTTTCTGTGTCAGTTACTCTGGGCCCAGCAGCCTGCAATGGACTCTCCCGCACCTCTGCCCTCCTGGCTCTCCCCATGATGTCAGAATGGGCCATTGCACCTCCAAAGTGCATGACATGAAATGAAAGCCAGGGAGTAAGGGGAGGTAGACCCCACCCTTAGCAAAGTGGCTCCAAAGTACATTTTACAAAGGAATATTCAGGTTTCATAAGAACCTACCTGGGTCCCTTTAAATTCCAGGGCGTTGAGGTTAGGCTCTAGGTGTGGAAACATGAACCCAGGGCAACTTTGCAGAAGGGGGTGATCCTGGGGTGGGGTTTGGGTGGGGTGAGCTGCCAGCCCAGAATTCAAGAGACTATGGGTGGGGGCCTTGCAGGGCTCAAGTTGAGAGGGACAGAAGCACCTGGCTGCAGCCTGGGGGCTGGTTTTCTGGCTCCTTGACCAAATTCCTTGGGTCCCCTGGACACGGGGCTGTGAGTCATTCCGGGGAATGACAGGGAAAAGGCACATTCCCTGGGGTTTCCCTAGCCCAGATGCAAACAGCAGCCACGGCTCATAGTGTGGGCTGGTGTAACGGAGCAGCGGAATGGCTGTGCCCCCAGCCTGGAGTCAGGCCTGTGTCGCCCTGGGAGTGGAATGGCATGGGCTTGCACAGCTGGCAGTGTGGCCAGCTTAGGCAGCCCCCTAGGGCTCTCAGAGGTCAGAGGTGGAGAGCGTGGAGCAGGATGGAGCCCAGGTCCCCAGCTGCAGCCATGCCCGGCCACCGTACCACCCCTGGTATTTTTGTCATAGCATGCTTTTTAAAAATGTCCTAGTAGGTTTAGGCATTTTGACTCTCAGCTACCTCCCCCAGCCCTACCACCCCACTTCCCAAGCCCAGCTGGGGTCCCCGGCCCACCCCAGCACTTGGCCCTGATTTGGGTGTTTTATCCCCCATAGAAAAGAGCAAGGATCGCGGCAGCAACACGATCGGCGCCCGCCTGAACCGAGTAGAAGACAAGGTAGGCTCACGCGCCGGCCTGCGGTGGTTCTGGTTAGCGTCCTGGGGCCAGCAGGCACCTCCCTGTGGTCTGCGTGTGAACGTGAAGCTCCTGCAGGCCTCCCCACCTTCCCGCCAGTGCCTACTGCAGCCTGCCCAGCAACTCCCAAGAGGGGCCCAGGCCCACTGCCCACCTGGCGGGGCATTGGTCCCCCATGGAAGGAGCCAGGCCAGGCTGGTTTCTCATCCTCTGACAAGTGGCGTCTTTACTGGCAGGTGGCACCAAGTGCCCCCTCCCCCCAGCTCTTTCCCGCTGCCTCTCGTAGTCTGCTTTGTGCTCTGCGAGCCTCCTGGCTGTGTCCTGAGTGGAGGGTGGCAGAAGCTGGCCTCACATCCCAGCCTTCTCCTGGGCCCAGCTGTCTGGGGCCTCCACTTGGGGCCGGCCGAGGGCTCAGGGAGGTGCAGGGCCCAGCTGGGATGGGTTCATGGGAAGAGAGGCATCTTCTGTTCACCCCGAACCCACCAGGCCCCCACTCCCCACCAGGCTCTGTGCCCATCACTCGGTCCCTCAGGCCGGAGCCTCTCCCCCAGGCACCCTGGGAGCTGCCGGGGGATCTGGGCGGTGGGAGGGCCTTTCTCGGGCCCATGGCTGAGCCCACCACTGCCCTTTGAAGTCTCTGTGGTTTGAAGCGGGCTGTTATCTTGCCGAACAGCAAGTCCGTCTACATGGACTTTATCTGAAAGTAGCTGAGAGGCTAAAAATAGAGGAGTTTCAGTTGGGCAGGGAGTGCGTCTGCCGCCCGGTTTCCCTGGCAACGCCTGGCTCTGGCCTGCTTCCATCTCGGCTGCAGCCGGGCAGGCGGGGCAGGCACAGCCCGGCCCAGGCTCCTGCTCCTGCCCCACCCGTCCTGGCCCCCAGGACCTGCAGCGTCACCCTCTCCCCACCTGGCACCATCTGCCCATGGCCTGGGGCGGCCGTGGGGCCCTGAGACCAGCAAATTGGGTCATGCAGAAAGAGCGAAGGCTGGTGTTCAGGTGCN
pathogenic
170,948
Gene mutation in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) at chromosome 11, position 2777020—is it benign or pathogenic? If pathogenic, specify the disease(s).
pathogenic; ['Cardiac_arrhythmia', 'Long_QT_syndrome']
TTGCAAATTCCCCAGCAAAAGGCAGGAAAGCCACTAGCTCAGTGCTAAGGTGGCTATTTGAGCACTAATGATGACTACCCTGGGCCTCACCCGGTCACCCAGTGGCCTCTCGGGATAGAGGCAGTCTGTTGTCCTATGTGCTGGCTTGCCTGCAGGGCCAAGGCCTTCCTAGGCCATCAAACCCCTGCTCAGCCTGGCTGCTCCACCTGAGTGAGGCCCTTGGGAGCAAGGCCACAAATGTGGCTTGGGGTTTCCTGATATCATGAGATGCTTTGTTTTCTCTGTTGTGGTTTCAAGATGTCACCTGAGTCCCACTTATAGGCTTAGAGCTGGCAACAAGCCTGGGAGCCCTGGGGTCCCCTGCCCTGCCTCACATGGCCCCAGCCCCACTGTGGGAGCCCAAGCAGATGCTCGTCACCCACAGCAAGTGCTGCAGGCTAAGGCCGTCATCTGGGGCCACCCCTGCTGCCTGGCACAAACTGCCAGGAACGATGCAGAGGAGACCCGCTCCCTACCCTGAGGACAGTGGCGGCTGCAGCCAGTGAGCATGTCAAGGGTCAGTCTGGGGCCCAGGTAGGTAGTGGGCATGCAGAGCTGTGCCTCCTGGTCAGTGCCTGGCACTGTGCTGCTCCTTGACCCCTTGGGGGGGCCAGCTCTTCCTGAAGCCATTGAGAACCAGAACTGGTAGCCTGGGGTGGTGGGGGGTGGAAGGGAGGAGACAGCAGGCCCCTGCCGGTGAGTAGACAGGAAGCTGGGACCCAGAGAGGCCGAGCTGATGGCCCAGGACTACCCAGAGACCCATGGCCAAGCTGATGGGGACAAGCTTCGCTACTGTGCACGCTTGGAACCAGGCTTATGCCATCACCACATAGGCGAGCTCCCAGGTCTTCACAAGCCTCCCGAGGGCAGACACTGTCACTGCCTGCACTTTGAGCCACATGGCTGGGGCACAGGGAGGAGAAGTGATGCGTGTCTTTTTGTCCCGCAGCAAGCGCGGAAGCCTTACGATGTGCGGGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCCGCCCGGATCTGAGATGATGGGGGAATTGGGGTAGGGGAGGCGCGTAGGGGAGGCAAACACCCGCCTCCGTCCCTGCTCAGGTAGCAACACCAGCTTCACACTCCCCACAACTTCAGGACACTCGGCAGCCAGCCCACCCGCCTTCCCTGTCACCTCTGAGCAAGGGGCCAGGCCCAGCCCTGGGAAGACACTGCCTGGTGCCAGGCCCCACCGCACGGGTCTCCCCCAGACTGGCCTGGAGCTGGAGACCCTGACTGTGGGGAGCTAATGTGTTCCCATGGAGCTAGCACCATCCTCCCGGGCCTGCACAGACTCAGAGCAGCTGTGCCTCCGAGATGGGCTCGCCTGGGAACTAGCTCCGTGTGTTACAGGGCATGGCTGGGAGCCCGTGTCCATCCTGGCCACAGGCGAGGGGTCAGGCTGCCTTGCCCATGGCTGATCCACTGCCTCCCACTCCTACCCCCAGGGAGGAAGTCTGAGAGGCAGCCCACCGACTCCCCCTTTCCGAGATCCCTGCTCAGCCCCCTCGGGAGCATGGCCCTCTGGGGGGTTGGGAGTGACCTGGCAGGCCTTAGGGTCGGGGGTGTCCCCAGAGTGGGTGGACAGTCCACTGTCTTGCCGGGCACGTCAAGCTGTCTGTCCCACAGACGACAGTGCATCTGCGCAGTGCCAGGGCCAGGTGTGAACTGGTGTCTGTGTCCTTCTCTCCAGGCTGGACCAGTCCATTGGGAAGCCCTCACTGTTCATCTCCGTCTCAGGTGGGTTTCTGTGTCAGTTACTCTGGGCCCAGCAGCCTGCAATGGACTCTCCCGCACCTCTGCCCTCCTGGCTCTCCCCATGATGTCAGAATGGGCCATTGCACCTCCAAAGTGCATGACATGAAATGAAAGCCAGGGAGTAAGGGGAGGTAGACCCCACCCTTAGCAAAGTGGCTCCAAAGTACATTTTACAAAGGAATATTCAGGTTTCATAAGAACCTACCTGGGTCCCTTTAAATTCCAGGGCGTTGAGGTTAGGCTCTAGGTGTGGAAACATGAACCCAGGGCAACTTTGCAGAAGGGGGTGATCCTGGGGTGGGGTTTGGGTGGGGTGAGCTGCCAGCCCAGAATTCAAGAGACTATGGGTGGGGGCCTTGCAGGGCTCAAGTTGAGAGGGACAGAAGCACCTGGCTGCAGCCTGGGGGCTGGTTTTCTGGCTCCTTGACCAAATTCCTTGGGTCCCCTGGACACGGGGCTGTGAGTCATTCCGGGGAATGACAGGGAAAAGGCACATTCCCTGGGGTTTCCCTAGCCCAGATGCAAACAGCAGCCACGGCTCATAGTGTGGGCTGGTGTAACGGAGCAGCGGAATGGCTGTGCCCCCAGCCTGGAGTCAGGCCTGTGTCGCCCTGGGAGTGGAATGGCATGGGCTTGCACAGCTGGCAGTGTGGCCAGCTTAGGCAGCCCCCTAGGGCTCTCAGAGGTCAGAGGTGGAGAGCGTGGAGCAGGATGGAGCCCAGGTCCCCAGCTGCAGCCATGCCCGGCCACCGTACCACCCCTGGTATTTTTGTCATAGCATGCTTTTTAAAAATGTCCTAGTAGGTTTAGGCATTTTGACTCTCAGCTACCTCCCCCAGCCCTACCACCCCACTTCCCAAGCCCAGCTGGGGTCCCCGGCCCACCCCAGCACTTGGCCCTGATTTGGGTGTTTTATCCCCCATAGAAAAGAGCAAGGATCGCGGCAGCAACACGATCGGCGCCCGCCTGAACCGAGTAGAAGACAAGGTAGGCTCACGCGCCGGCCTGCGGTGGTTCTGGTTAGCGTCCTGGGGCCAGCAGGCACCTCCCTGTGGTCTGCGTGTGAACGTGAAGCTCCTGCAGGCCTCCCCACCTTCCCGCCAGTGCCTACTGCAGCCTGCCCAGCAACTCCCAAGAGGGGCCCAGGCCCACTGCCCACCTGGCGGGGCATTGGTCCCCCATGGAAGGAGCCAGGCCAGGCTGGTTTCTCATCCTCTGACAAGTGGCGTCTTTACTGGCAGGTGGCACCAAGTGCCCCCTCCCCCCAGCTCTTTCCCGCTGCCTCTCGTAGTCTGCTTTGTGCTCTGCGAGCCTCCTGGCTGTGTCCTGAGTGGAGGGTGGCAGAAGCTGGCCTCACATCCCAGCCTTCTCCTGGGCCCAGCTGTCTGGGGCCTCCACTTGGGGCCGGCCGAGGGCTCAGGGAGGTGCAGGGCCCAGCTGGGATGGGTTCATGGGAAGAGAGGCATCTTCTGTTCACCCCGAACCCACCAGGCCCCCACTCCCCACCAGGCTCTGTGCCCATCACTCGGTCCCTCAGGCCGGAGCCTCTCCCCCAGGCACCCTGGGAGCTGCCGGGGGATCTGGGCGGTGGGAGGGCCTTTCTCGGGCCCATGGCTGAGCCCACCACTGCCCTTTGAAGTCTCTGTGGTTTGAAGCGGGCTGTTATCTTGCCGAACAGCAAGTCCGTCTACATGGACTTTATCTGAAAGTAGCTGAGAGGCTAAAAATAGAGGAGTTTCAGTTGGGCAGGGAGTGCGTCTGCCGCCCGGTTTCCCTGGCAACGCCTGGCTCTGGCCTGCTTCCATCTCGGCTGCAGCCGGGCAGGCGGGGCAGGCACAGCCCGGCCCAGGCTCCTGCTCCTGCCCCACCCGTCCTGGCCCCCAGGACCTGCAGCGTCACCCTCTCCCCACCTGGCACCATCTGCCCATGGCCTGGGGCGGCCGTGGGGCCCTGAGACCAGCAAATTGGGTCATGCAGAAAGAGCGAAGGCTGGTGTTCAGGTGCCTGGCCCCATGGG
TTGCAAATTCCCCAGCAAAAGGCAGGAAAGCCACTAGCTCAGTGCTAAGGTGGCTATTTGAGCACTAATGATGACTACCCTGGGCCTCACCCGGTCACCCAGTGGCCTCTCGGGATAGAGGCAGTCTGTTGTCCTATGTGCTGGCTTGCCTGCAGGGCCAAGGCCTTCCTAGGCCATCAAACCCCTGCTCAGCCTGGCTGCTCCACCTGAGTGAGGCCCTTGGGAGCAAGGCCACAAATGTGGCTTGGGGTTTCCTGATATCATGAGATGCTTTGTTTTCTCTGTTGTGGTTTCAAGATGTCACCTGAGTCCCACTTATAGGCTTAGAGCTGGCAACAAGCCTGGGAGCCCTGGGGTCCCCTGCCCTGCCTCACATGGCCCCAGCCCCACTGTGGGAGCCCAAGCAGATGCTCGTCACCCACAGCAAGTGCTGCAGGCTAAGGCCGTCATCTGGGGCCACCCCTGCTGCCTGGCACAAACTGCCAGGAACGATGCAGAGGAGACCCGCTCCCTACCCTGAGGACAGTGGCGGCTGCAGCCAGTGAGCATGTCAAGGGTCAGTCTGGGGCCCAGGTAGGTAGTGGGCATGCAGAGCTGTGCCTCCTGGTCAGTGCCTGGCACTGTGCTGCTCCTTGACCCCTTGGGGGGGCCAGCTCTTCCTGAAGCCATTGAGAACCAGAACTGGTAGCCTGGGGTGGTGGGGGGTGGAAGGGAGGAGACAGCAGGCCCCTGCCGGTGAGTAGACAGGAAGCTGGGACCCAGAGAGGCCGAGCTGATGGCCCAGGACTACCCAGAGACCCATGGCCAAGCTGATGGGGACAAGCTTCGCTACTGTGCACGCTTGGAACCAGGCTTATGCCATCACCACATAGGCGAGCTCCCAGGTCTTCACAAGCCTCCCGAGGGCAGACACTGTCACTGCCTGCACTTTGAGCCACATGGCTGGGGCACAGGGAGGAGAAGTGATGCGTGTCTTTTTGTCCCGCAGCAAGCGCGGAAGCCTTACGATGTGCGGGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCCGCCCGGATCTGAGATGATGGGGGAATTGGGGTAGGGGAGGCGCGTAGGGGAGGCAAACACCCGCCTCCGTCCCTGCTCAGGTAGCAACACCAGCTTCACACTCCCCACAACTTCAGGACACTCGGCAGCCAGCCCACCCGCCTTCCCTGTCACCTCTGAGCAAGGGGCCAGGCCCAGCCCTGGGAAGACACTGCCTGGTGCCAGGCCCCACCGCACGGGTCTCCCCCAGACTGGCCTGGAGCTGGAGACCCTGACTGTGGGGAGCTAATGTGTTCCCATGGAGCTAGCACCATCCTCCCGGGCCTGCACAGACTCAGAGCAGCTGTGCCTCCGAGATGGGCTCGCCTGGGAACTAGCTCCGTGTGTTACAGGGCATGGCTGGGAGCCCGTGTCCATCCTGGCCACAGGCGAGGGGTCAGGCTGCCTTGCCCATGGCTGATCCACTGCCTCCCACTCCTACCCCCAGGGAGGAAGTCTGAGAGGCAGCCCACCGACTCCCCCTTTCCGAGATCCCTGCTCAGCCCCCTCGGGAGCATGGCCCTCTGGGGGGTTGGGAGTGACCTGGCAGGCCTTAGGGTCGGGGGTGTCCCCAGAGTGGGTGGACAGTCCACTGTCTTGCCGGGCACGTCAAGCTGTCTGTCCCACAGACGACAGTGCATCTGCGCAGTGCCAGGGCCAGGTGTGAACTGGTGTCTGTGTCCTTCTCTCCAGGCTGGACCAGTCCATTGGGAAGCCCTCACTGTTCACTCCGTCTCAGGTGGGTTTCTGTGTCAGTTACTCTGGGCCCAGCAGCCTGCAATGGACTCTCCCGCACCTCTGCCCTCCTGGCTCTCCCCATGATGTCAGAATGGGCCATTGCACCTCCAAAGTGCATGACATGAAATGAAAGCCAGGGAGTAAGGGGAGGTAGACCCCACCCTTAGCAAAGTGGCTCCAAAGTACATTTTACAAAGGAATATTCAGGTTTCATAAGAACCTACCTGGGTCCCTTTAAATTCCAGGGCGTTGAGGTTAGGCTCTAGGTGTGGAAACATGAACCCAGGGCAACTTTGCAGAAGGGGGTGATCCTGGGGTGGGGTTTGGGTGGGGTGAGCTGCCAGCCCAGAATTCAAGAGACTATGGGTGGGGGCCTTGCAGGGCTCAAGTTGAGAGGGACAGAAGCACCTGGCTGCAGCCTGGGGGCTGGTTTTCTGGCTCCTTGACCAAATTCCTTGGGTCCCCTGGACACGGGGCTGTGAGTCATTCCGGGGAATGACAGGGAAAAGGCACATTCCCTGGGGTTTCCCTAGCCCAGATGCAAACAGCAGCCACGGCTCATAGTGTGGGCTGGTGTAACGGAGCAGCGGAATGGCTGTGCCCCCAGCCTGGAGTCAGGCCTGTGTCGCCCTGGGAGTGGAATGGCATGGGCTTGCACAGCTGGCAGTGTGGCCAGCTTAGGCAGCCCCCTAGGGCTCTCAGAGGTCAGAGGTGGAGAGCGTGGAGCAGGATGGAGCCCAGGTCCCCAGCTGCAGCCATGCCCGGCCACCGTACCACCCCTGGTATTTTTGTCATAGCATGCTTTTTAAAAATGTCCTAGTAGGTTTAGGCATTTTGACTCTCAGCTACCTCCCCCAGCCCTACCACCCCACTTCCCAAGCCCAGCTGGGGTCCCCGGCCCACCCCAGCACTTGGCCCTGATTTGGGTGTTTTATCCCCCATAGAAAAGAGCAAGGATCGCGGCAGCAACACGATCGGCGCCCGCCTGAACCGAGTAGAAGACAAGGTAGGCTCACGCGCCGGCCTGCGGTGGTTCTGGTTAGCGTCCTGGGGCCAGCAGGCACCTCCCTGTGGTCTGCGTGTGAACGTGAAGCTCCTGCAGGCCTCCCCACCTTCCCGCCAGTGCCTACTGCAGCCTGCCCAGCAACTCCCAAGAGGGGCCCAGGCCCACTGCCCACCTGGCGGGGCATTGGTCCCCCATGGAAGGAGCCAGGCCAGGCTGGTTTCTCATCCTCTGACAAGTGGCGTCTTTACTGGCAGGTGGCACCAAGTGCCCCCTCCCCCCAGCTCTTTCCCGCTGCCTCTCGTAGTCTGCTTTGTGCTCTGCGAGCCTCCTGGCTGTGTCCTGAGTGGAGGGTGGCAGAAGCTGGCCTCACATCCCAGCCTTCTCCTGGGCCCAGCTGTCTGGGGCCTCCACTTGGGGCCGGCCGAGGGCTCAGGGAGGTGCAGGGCCCAGCTGGGATGGGTTCATGGGAAGAGAGGCATCTTCTGTTCACCCCGAACCCACCAGGCCCCCACTCCCCACCAGGCTCTGTGCCCATCACTCGGTCCCTCAGGCCGGAGCCTCTCCCCCAGGCACCCTGGGAGCTGCCGGGGGATCTGGGCGGTGGGAGGGCCTTTCTCGGGCCCATGGCTGAGCCCACCACTGCCCTTTGAAGTCTCTGTGGTTTGAAGCGGGCTGTTATCTTGCCGAACAGCAAGTCCGTCTACATGGACTTTATCTGAAAGTAGCTGAGAGGCTAAAAATAGAGGAGTTTCAGTTGGGCAGGGAGTGCGTCTGCCGCCCGGTTTCCCTGGCAACGCCTGGCTCTGGCCTGCTTCCATCTCGGCTGCAGCCGGGCAGGCGGGGCAGGCACAGCCCGGCCCAGGCTCCTGCTCCTGCCCCACCCGTCCTGGCCCCCAGGACCTGCAGCGTCACCCTCTCCCCACCTGGCACCATCTGCCCATGGCCTGGGGCGGCCGTGGGGCCCTGAGACCAGCAAATTGGGTCATGCAGAAAGAGCGAAGGCTGGTGTTCAGGTGCCTGGCCCCATGGGN
pathogenic
170,953
A genetic variant on chromosome 11, position 2778034, affects the gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Long_QT_syndrome']
GGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCCGCCCGGATCTGAGATGATGGGGGAATTGGGGTAGGGGAGGCGCGTAGGGGAGGCAAACACCCGCCTCCGTCCCTGCTCAGGTAGCAACACCAGCTTCACACTCCCCACAACTTCAGGACACTCGGCAGCCAGCCCACCCGCCTTCCCTGTCACCTCTGAGCAAGGGGCCAGGCCCAGCCCTGGGAAGACACTGCCTGGTGCCAGGCCCCACCGCACGGGTCTCCCCCAGACTGGCCTGGAGCTGGAGACCCTGACTGTGGGGAGCTAATGTGTTCCCATGGAGCTAGCACCATCCTCCCGGGCCTGCACAGACTCAGAGCAGCTGTGCCTCCGAGATGGGCTCGCCTGGGAACTAGCTCCGTGTGTTACAGGGCATGGCTGGGAGCCCGTGTCCATCCTGGCCACAGGCGAGGGGTCAGGCTGCCTTGCCCATGGCTGATCCACTGCCTCCCACTCCTACCCCCAGGGAGGAAGTCTGAGAGGCAGCCCACCGACTCCCCCTTTCCGAGATCCCTGCTCAGCCCCCTCGGGAGCATGGCCCTCTGGGGGGTTGGGAGTGACCTGGCAGGCCTTAGGGTCGGGGGTGTCCCCAGAGTGGGTGGACAGTCCACTGTCTTGCCGGGCACGTCAAGCTGTCTGTCCCACAGACGACAGTGCATCTGCGCAGTGCCAGGGCCAGGTGTGAACTGGTGTCTGTGTCCTTCTCTCCAGGCTGGACCAGTCCATTGGGAAGCCCTCACTGTTCATCTCCGTCTCAGGTGGGTTTCTGTGTCAGTTACTCTGGGCCCAGCAGCCTGCAATGGACTCTCCCGCACCTCTGCCCTCCTGGCTCTCCCCATGATGTCAGAATGGGCCATTGCACCTCCAAAGTGCATGACATGAAATGAAAGCCAGGGAGTAAGGGGAGGTAGACCCCACCCTTAGCAAAGTGGCTCCAAAGTACATTTTACAAAGGAATATTCAGGTTTCATAAGAACCTACCTGGGTCCCTTTAAATTCCAGGGCGTTGAGGTTAGGCTCTAGGTGTGGAAACATGAACCCAGGGCAACTTTGCAGAAGGGGGTGATCCTGGGGTGGGGTTTGGGTGGGGTGAGCTGCCAGCCCAGAATTCAAGAGACTATGGGTGGGGGCCTTGCAGGGCTCAAGTTGAGAGGGACAGAAGCACCTGGCTGCAGCCTGGGGGCTGGTTTTCTGGCTCCTTGACCAAATTCCTTGGGTCCCCTGGACACGGGGCTGTGAGTCATTCCGGGGAATGACAGGGAAAAGGCACATTCCCTGGGGTTTCCCTAGCCCAGATGCAAACAGCAGCCACGGCTCATAGTGTGGGCTGGTGTAACGGAGCAGCGGAATGGCTGTGCCCCCAGCCTGGAGTCAGGCCTGTGTCGCCCTGGGAGTGGAATGGCATGGGCTTGCACAGCTGGCAGTGTGGCCAGCTTAGGCAGCCCCCTAGGGCTCTCAGAGGTCAGAGGTGGAGAGCGTGGAGCAGGATGGAGCCCAGGTCCCCAGCTGCAGCCATGCCCGGCCACCGTACCACCCCTGGTATTTTTGTCATAGCATGCTTTTTAAAAATGTCCTAGTAGGTTTAGGCATTTTGACTCTCAGCTACCTCCCCCAGCCCTACCACCCCACTTCCCAAGCCCAGCTGGGGTCCCCGGCCCACCCCAGCACTTGGCCCTGATTTGGGTGTTTTATCCCCCATAGAAAAGAGCAAGGATCGCGGCAGCAACACGATCGGCGCCCGCCTGAACCGAGTAGAAGACAAGGTAGGCTCACGCGCCGGCCTGCGGTGGTTCTGGTTAGCGTCCTGGGGCCAGCAGGCACCTCCCTGTGGTCTGCGTGTGAACGTGAAGCTCCTGCAGGCCTCCCCACCTTCCCGCCAGTGCCTACTGCAGCCTGCCCAGCAACTCCCAAGAGGGGCCCAGGCCCACTGCCCACCTGGCGGGGCATTGGTCCCCCATGGAAGGAGCCAGGCCAGGCTGGTTTCTCATCCTCTGACAAGTGGCGTCTTTACTGGCAGGTGGCACCAAGTGCCCCCTCCCCCCAGCTCTTTCCCGCTGCCTCTCGTAGTCTGCTTTGTGCTCTGCGAGCCTCCTGGCTGTGTCCTGAGTGGAGGGTGGCAGAAGCTGGCCTCACATCCCAGCCTTCTCCTGGGCCCAGCTGTCTGGGGCCTCCACTTGGGGCCGGCCGAGGGCTCAGGGAGGTGCAGGGCCCAGCTGGGATGGGTTCATGGGAAGAGAGGCATCTTCTGTTCACCCCGAACCCACCAGGCCCCCACTCCCCACCAGGCTCTGTGCCCATCACTCGGTCCCTCAGGCCGGAGCCTCTCCCCCAGGCACCCTGGGAGCTGCCGGGGGATCTGGGCGGTGGGAGGGCCTTTCTCGGGCCCATGGCTGAGCCCACCACTGCCCTTTGAAGTCTCTGTGGTTTGAAGCGGGCTGTTATCTTGCCGAACAGCAAGTCCGTCTACATGGACTTTATCTGAAAGTAGCTGAGAGGCTAAAAATAGAGGAGTTTCAGTTGGGCAGGGAGTGCGTCTGCCGCCCGGTTTCCCTGGCAACGCCTGGCTCTGGCCTGCTTCCATCTCGGCTGCAGCCGGGCAGGCGGGGCAGGCACAGCCCGGCCCAGGCTCCTGCTCCTGCCCCACCCGTCCTGGCCCCCAGGACCTGCAGCGTCACCCTCTCCCCACCTGGCACCATCTGCCCATGGCCTGGGGCGGCCGTGGGGCCCTGAGACCAGCAAATTGGGTCATGCAGAAAGAGCGAAGGCTGGTGTTCAGGTGCCTGGCCCCATGGGGCTGTGTGACCACAGTACCCTGAGTCCCATGGGCCTGGCCACCCTCTGTCAGCACAGACCTGAGCAGGGCTGGTGCAGACCTTTGCCAGGCAGATGGCCCAGTGGGAGATAGCGCCCATCTGGCAGGACAGGAAGCAAGACCCGGGAGAGGTCAGCTCACAGGATTGGCAAGCTCAGAGGCCCAGAAGCCTTGGCCTCTCTGCTGCCCGGGGAACACGGTGTTTCCCTGGCTTTCTCTTTGCGCAAGGGCTGGGTGACTCCTGGCTGGCACACCCAGTACAGCAGGGCCGGGTACCCTGTGTTGTTGGCATGGCCAGGAGTTTCTAGACATCAAGGAAAGCCGTGGTAGAGACAGGGAGTGGCACCCAGTTCCCCAGCCTCCACTCCTGCTTCCATCTCGGCTGCAGCCAGGCAGGCGGGGCGTGAACATCCCTGACGTGCAGGAGTGTCGGTGGCCCTTTCTGGACAGCACAGGCTGGGGACAGCCCCCGCCTTTCCCCGCCACTCCCTGCCAAGCTCTGGTTCCATTGCCTACACTACTGTCCCAGACCTTTCTTACGGCTCTGCCCCTGCTCCATGGGACAGGCCACCCTCTAAGCCCAGACCTGGAGTCTGGCATCCTGCGGGGGTGATGGTGGGTGGCAGACAGGGCCTCCTGAAGTGCAATGGCCCCTTCCTGACGTGCACAGCAGCCGTCCAGCAGCCTGCTGGGGCCTGGGAACAAGGACACAGTCCTCAGTCAGCCAAGGTCGGTGTGGGGGCCTGCAGAGGGGCCAGCGCTGGCCTTGAAGGCACAAAATTATGCACCCAATTTCTTCACATCTGAGCAACAAAGGGAAGCATTTTCCGGAGTCCCTGATCCCTAGGGCAAGGTTTAAGAACAAGGCTGGGGCCACATCCTGGTGCCCTGTCAGGCTCTGAGCCGGGGCCACGAGGATTCTGGTAGATTCTGCATGCACAGCCCTGGTGGGCCCTGGCTCCCTGCCATTACATTCGAGTCCTCTGCCTGGGGTC
GGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCCGCCCGGATCTGAGATGATGGGGGAATTGGGGTAGGGGAGGCGCGTAGGGGAGGCAAACACCCGCCTCCGTCCCTGCTCAGGTAGCAACACCAGCTTCACACTCCCCACAACTTCAGGACACTCGGCAGCCAGCCCACCCGCCTTCCCTGTCACCTCTGAGCAAGGGGCCAGGCCCAGCCCTGGGAAGACACTGCCTGGTGCCAGGCCCCACCGCACGGGTCTCCCCCAGACTGGCCTGGAGCTGGAGACCCTGACTGTGGGGAGCTAATGTGTTCCCATGGAGCTAGCACCATCCTCCCGGGCCTGCACAGACTCAGAGCAGCTGTGCCTCCGAGATGGGCTCGCCTGGGAACTAGCTCCGTGTGTTACAGGGCATGGCTGGGAGCCCGTGTCCATCCTGGCCACAGGCGAGGGGTCAGGCTGCCTTGCCCATGGCTGATCCACTGCCTCCCACTCCTACCCCCAGGGAGGAAGTCTGAGAGGCAGCCCACCGACTCCCCCTTTCCGAGATCCCTGCTCAGCCCCCTCGGGAGCATGGCCCTCTGGGGGGTTGGGAGTGACCTGGCAGGCCTTAGGGTCGGGGGTGTCCCCAGAGTGGGTGGACAGTCCACTGTCTTGCCGGGCACGTCAAGCTGTCTGTCCCACAGACGACAGTGCATCTGCGCAGTGCCAGGGCCAGGTGTGAACTGGTGTCTGTGTCCTTCTCTCCAGGCTGGACCAGTCCATTGGGAAGCCCTCACTGTTCATCTCCGTCTCAGGTGGGTTTCTGTGTCAGTTACTCTGGGCCCAGCAGCCTGCAATGGACTCTCCCGCACCTCTGCCCTCCTGGCTCTCCCCATGATGTCAGAATGGGCCATTGCACCTCCAAAGTGCATGACATGAAATGAAAGCCAGGGAGTAAGGGGAGGTAGACCCCACCCTTAGCAAAGTGGCTCCAAAGTACATTTTACAAAGGAATATTCAGGTTTCATAAGAACCTACCTGGGTCCCTTTAAATTCCAGGGCGTTGAGGTTAGGCTCTAGGTGTGGAAACATGAACCCAGGGCAACTTTGCAGAAGGGGGTGATCCTGGGGTGGGGTTTGGGTGGGGTGAGCTGCCAGCCCAGAATTCAAGAGACTATGGGTGGGGGCCTTGCAGGGCTCAAGTTGAGAGGGACAGAAGCACCTGGCTGCAGCCTGGGGGCTGGTTTTCTGGCTCCTTGACCAAATTCCTTGGGTCCCCTGGACACGGGGCTGTGAGTCATTCCGGGGAATGACAGGGAAAAGGCACATTCCCTGGGGTTTCCCTAGCCCAGATGCAAACAGCAGCCACGGCTCATAGTGTGGGCTGGTGTAACGGAGCAGCGGAATGGCTGTGCCCCCAGCCTGGAGTCAGGCCTGTGTCGCCCTGGGAGTGGAATGGCATGGGCTTGCACAGCTGGCAGTGTGGCCAGCTTAGGCAGCCCCCTAGGGCTCTCAGAGGTCAGAGGTGGAGAGCGTGGAGCAGGATGGAGCCCAGGTCCCCAGCTGCAGCCATGCCCGGCCACCGTACCACCCCTGGTATTTTTGTCATAGCATGCTTTTTAAAAATGTCCTAGTAGGTTTAGGCATTTTGACTCTCAGCTACCTCCCCCAGCCCTACCACCCCACTTCCCAAGCCCAGCTGGGGTCCCCGGCCCACCCCAGCACTTGGCCCTGATTTGGGTGTTTTATCCCCCATAGAAAAGAGCAAGGATCGCGGCAGCAACACGATCGGCGCCCGCCTGAACCGAGTAGAAGACGGTAGGCTCACGCGCCGGCCTGCGGTGGTTCTGGTTAGCGTCCTGGGGCCAGCAGGCACCTCCCTGTGGTCTGCGTGTGAACGTGAAGCTCCTGCAGGCCTCCCCACCTTCCCGCCAGTGCCTACTGCAGCCTGCCCAGCAACTCCCAAGAGGGGCCCAGGCCCACTGCCCACCTGGCGGGGCATTGGTCCCCCATGGAAGGAGCCAGGCCAGGCTGGTTTCTCATCCTCTGACAAGTGGCGTCTTTACTGGCAGGTGGCACCAAGTGCCCCCTCCCCCCAGCTCTTTCCCGCTGCCTCTCGTAGTCTGCTTTGTGCTCTGCGAGCCTCCTGGCTGTGTCCTGAGTGGAGGGTGGCAGAAGCTGGCCTCACATCCCAGCCTTCTCCTGGGCCCAGCTGTCTGGGGCCTCCACTTGGGGCCGGCCGAGGGCTCAGGGAGGTGCAGGGCCCAGCTGGGATGGGTTCATGGGAAGAGAGGCATCTTCTGTTCACCCCGAACCCACCAGGCCCCCACTCCCCACCAGGCTCTGTGCCCATCACTCGGTCCCTCAGGCCGGAGCCTCTCCCCCAGGCACCCTGGGAGCTGCCGGGGGATCTGGGCGGTGGGAGGGCCTTTCTCGGGCCCATGGCTGAGCCCACCACTGCCCTTTGAAGTCTCTGTGGTTTGAAGCGGGCTGTTATCTTGCCGAACAGCAAGTCCGTCTACATGGACTTTATCTGAAAGTAGCTGAGAGGCTAAAAATAGAGGAGTTTCAGTTGGGCAGGGAGTGCGTCTGCCGCCCGGTTTCCCTGGCAACGCCTGGCTCTGGCCTGCTTCCATCTCGGCTGCAGCCGGGCAGGCGGGGCAGGCACAGCCCGGCCCAGGCTCCTGCTCCTGCCCCACCCGTCCTGGCCCCCAGGACCTGCAGCGTCACCCTCTCCCCACCTGGCACCATCTGCCCATGGCCTGGGGCGGCCGTGGGGCCCTGAGACCAGCAAATTGGGTCATGCAGAAAGAGCGAAGGCTGGTGTTCAGGTGCCTGGCCCCATGGGGCTGTGTGACCACAGTACCCTGAGTCCCATGGGCCTGGCCACCCTCTGTCAGCACAGACCTGAGCAGGGCTGGTGCAGACCTTTGCCAGGCAGATGGCCCAGTGGGAGATAGCGCCCATCTGGCAGGACAGGAAGCAAGACCCGGGAGAGGTCAGCTCACAGGATTGGCAAGCTCAGAGGCCCAGAAGCCTTGGCCTCTCTGCTGCCCGGGGAACACGGTGTTTCCCTGGCTTTCTCTTTGCGCAAGGGCTGGGTGACTCCTGGCTGGCACACCCAGTACAGCAGGGCCGGGTACCCTGTGTTGTTGGCATGGCCAGGAGTTTCTAGACATCAAGGAAAGCCGTGGTAGAGACAGGGAGTGGCACCCAGTTCCCCAGCCTCCACTCCTGCTTCCATCTCGGCTGCAGCCAGGCAGGCGGGGCGTGAACATCCCTGACGTGCAGGAGTGTCGGTGGCCCTTTCTGGACAGCACAGGCTGGGGACAGCCCCCGCCTTTCCCCGCCACTCCCTGCCAAGCTCTGGTTCCATTGCCTACACTACTGTCCCAGACCTTTCTTACGGCTCTGCCCCTGCTCCATGGGACAGGCCACCCTCTAAGCCCAGACCTGGAGTCTGGCATCCTGCGGGGGTGATGGTGGGTGGCAGACAGGGCCTCCTGAAGTGCAATGGCCCCTTCCTGACGTGCACAGCAGCCGTCCAGCAGCCTGCTGGGGCCTGGGAACAAGGACACAGTCCTCAGTCAGCCAAGGTCGGTGTGGGGGCCTGCAGAGGGGCCAGCGCTGGCCTTGAAGGCACAAAATTATGCACCCAATTTCTTCACATCTGAGCAACAAAGGGAAGCATTTTCCGGAGTCCCTGATCCCTAGGGCAAGGTTTAAGAACAAGGCTGGGGCCACATCCTGGTGCCCTGTCAGGCTCTGAGCCGGGGCCACGAGGATTCTGGTAGATTCTGCATGCACAGCCCTGGTGGGCCCTGGCTCCCTGCCATTACATTCGAGTCCTCTGCCTGGGGTCNN
pathogenic
170,979
Evaluate the clinical significance of the mutation at chromosome 11, position 2847842 in gene KCNQ1: benign or pathogenic? What disease(s) does a pathogenic variant suggest?
pathogenic; ['Long_QT_syndrome']
TGGAGGCTGCCCACCTAGCCCTCTAGACAGACGCTCGGCCCCACTCAGGCAGGCGCCCCCCTCTCATCTCAGCCTCTCACAGCACCCTGTTGGCCGCCTCTTCCTTAGCCTGCTCAGCCTCCGTGGTAGGTGCTGTGGGTGACGACCACAGCACCCAGCCTTTGAAGCTGGCCCGGGTCCACCCAGACCCTAGCAAACTGGTTGCTCCCTCTCTGGCCATCCCGGGGCTTGTGCCCACGTCACCCAGCAGCATCTTCCCTGGGGTTGTCTCACCCGCACAGAACCCAGCCCTGGCCCACACCTCACCCCAAGCCTATCCGGCTGGATCAGCAGTGGGGCCGGGCGCATGAGGGACCAGGCCCGCCCGGCGCAGCCTAGGGTGCAGACCCCTGGAGTGCACGGCCAGGTGGACCGGGCCAGCTCCCGCCTGCTGCCTGTGCTTAGGGCCAGTGGTTGACGTTGCTGTGGCTGAGTCATCTTCGTGCCTCTCTCTGGAGCCATACGTTTCCCTGAAGCAGCTCTGCTGTTCAGCCCTTATCGCGTGCTGATCTGTTTGCCCCTCCCCCACCACTTCTAGGTCTTTCCAGGCCTCCAGGTACCCACGGTGGGGGAGGGTCTACTTCATTCTCCACAGAGCACGCTGAGGGGCTCTCCTGCAAGAACACCGCAGGCTGAAGGACCAGCCCTGTCTCCTGTGGCCACCAACAGAGCTGTGCGCCCTCCCCGAACCCTCACTCATGCTAGGGCCCCCAGGTCCAACCTCCTAGGGAGAGGGGTCCCCAACCTGGACTCCCTCACCTGCCCTAGTCTGCCCCTGGGGTTGGCCCTGCTCCACCCAGCACCTGCTCTGAGGGTGCCAGGGTGCCGGCCTGCCGGCCAGGGCCTTCCAGTCTCCCCATCAAGGCTGGATGGCCACTTCCCACCCGGGGCGGGCTCCAGCCTCATTCCCCAGCGGTGCTGTCCTTCCAAGGAGCTCTCAGATCACCTGGCTGTCCACTCGTTTGGGGCTTCTCTGCTGCCTCCGCAGCACTGCGAGGCCTCTGATCACCTACTCTCTGTGCTGGGTGCATTTCGGGTTCTGTCCTGCCTTGACCTCCCTGCCAGCTTTGCAGGGCAGCCACCCTGGCACATAGCTCACTGCAGAACCAGCCCCTGAGAAGGTGGAGGCCACATGGCTAGCCAGAGGGCACGCTCTAGGGCACTGCTCTGACCACAGAATGTGGGTGCAGATGGTGTCTGGGAAAATAGTGGTGTCCCCGCTAGGTTAAAGACATGGCATAATGGTTCCTGGGGGATGACAAAAAAACCCACCCCCACCCCCTTGCAGAAAGCATCACAGAGGCACAAGCCCTGTGCCCTGCAAGCCCCTCCTGGAAGTGGCCCAGCAGGGGCATCCCCTGCACACCCAGGCAAAGCCCAAGCCCTCTGCCTCCTCAACCACCCCAGGCCCTGCCCATGAGCCAGCCTTGCTGAACTCTGCCCTCTGTCCAGTTCTCCTCCAGACACAGTAGACATAGCCCCCAGCCTTTCTTGACCCTTAACCCAAATGTCCCCAAGCCTGGCCTCAAGAAGCCAAAGGCTGCCGCAAACCCAAATATTTCAGGTCCGGGTCCCTGGTGCAGACCCTGCCATGCGGGGATGTGGCACAGAAGGCCGGCCAGCCTGGGGAGCAGAGAAGGAGGAGAGGAGAGCTCCTGGCCCTGAGCCTGAATGCCTGTGGACACATATAGGGACTCCCAGCACGCACGGGATGGACTCCAATCGGCACACATGCACATTCCTTGCACACACACAGGCGCGACCGAGGGCCTTGCAGACATAGGGTGCACACGTGCGTGCCGCCTGCATACAGCATGCACTTGCAGAGACGGTTGGCACCTTCCCTTCTCTGGCCCCAAACCTGGGCCCTGAGGCTGTCTGCACACCTGGGTGCTTCCCACCACTGACTCTCTCGTCTGCCTTTGTCCCCGCAGGTGACGCAGCTGGACCAGAGGCTGGCACTCATCACCGACATGCTTCACCAGCTGCTCTCCTTGCACGGTGGCAGCACCCCCGGCAGCGGCGGCCCCCCCAGAGAGGGCGGGGCCCACATCACCCAGCCCTGCGGCAGTGGCGGCTCCGTCGACCCTGAGCTCTTCCTGCCCAGCAACACCCTGCCCACCTACGAGCAGCTGACCGTGCCCAGGAGGGGCCCCGATGAGGGGTCCTGAGGAGGGGATGGGGCTGGGGGATGGGCCTGAGTGAGAGGGGAGGCCAAGAGTGGCCCCACCTGGCCCTCTCTGAAGGAGGCCACCTCCTAAAAGGCCCAGAGAGAAGAGCCCCACTCTCAGAGGCCCCAATACCCCATGGACCATGCTGTCTGGCACAGCCTGCACTTGGGGGCTCAGCAAGGCCACCTCTTCCTGGCCGGTGTGGGGGCCCCGTCTCAGGTCTGAGTTGTTACCCCAAGCGCCCTGGCCCCCACATGGTGATGTTGACATCACTGGCATGGTGGTTGGGACCCAGTGGCAGGGCACAGGGCCTGGCCCATGTATGGCCAGGAAGTAGCACAGGCTGAGTGCAGGCCCACCCTGCTTGGCCCAGGGGGCTTCCTGAGGGGAGACAGAGCAACCCCTGGACCCCAGCCTCAAATCCAGGACCCTGCCAGGCACAGGCAGGGCAGGACCAGCCCACGCTGACTACAGGGCCGCCGGCAATAAAAGCCCAGGAGCCCATTTGGAGGGCCTGGGCCTGGCTCCCTCACTCTCAGGAAATGCTGACCCATGGGCAGGAGACTGTGGAGACTGCTCCTGAGCCCCCAGCTTCCAGCAGGAGGGACAGTCTCACCATTTCCCCAGGGCACGTGGTTGAGTGGGGGGAACGCCCACTTCCCTGGGTTAGACTGCCAGCTCTTCCTAGCTGGAGAGGAGCCCTGCCTCTCCGCCCCTGAGCCCACTGTGCGTGGGGCTCCCGCCTCCAACCCCTCGCCCAGTCCCAGCAGCCAGCCAAACACACAGAAGGGGACTGCCACCTCCCCTTGCCAGCTGCTGAGCCGCAGAGAAGTGACGGTTCCTACACAGGACAGGGGTTCCTTCTGGGCATTACATCGCATAGAAATCAATAATTTGTGGTGATTTGGATCTGTGTTTTAATGAGTTTCACAGTGTGATTTTGATTATTAATTGTGCAAGCTTTTCCTAATAAACGTGGAGAATCACAGGCTGGGCTGGGCACTGCTCTCACCTTGGTTCCTGGGGCATCCATGGGGTCTCTCACAGACAGGACCCCTGCAGTTCCCCTGGAAGCAGTGCCCAGGTGGCTGTGGAATAGGAACGCTATGTCCGTGTACTGAGGAGTAGGTCAGGGTTCAGAGGGGCTGCAAGATGCCATCGAAGGCTCTAGCTTAGCGACGTCGCTCCTGTTCTGGGCCCTGGGCTGGCCCTGGCCATGAAGTGCAGTCACAGTGTGGTCACTGCCTGTCTTCCAGCAGACTCTATGCCCTTGCGGCAGATGGGCTCTGTCTGGGCCTCTCTGTCTGCCCCTCCCAGGCCAGGGTGGCCCTTCATCAAGGACCCACATGCTCCACTCTGGGAGCAGGCCCCACCCAGGCCCATTCCCCAGGATGCCAAGGGCTAAACTCTGGAGGGGTTGTGGTGCAAGGAAGGCCTGGGGCCCCTGAGGCTCCCATATGCTCACCCCTGGCCTCCTCCGGGCCTCTATTTCCCCATTGGTAACACGATGCTCCCTTAGCCTGTCCAGTTCTCTGAGTGGGACAGAGGGGCCACCACCCTGCTCGCCCTGACCCTGTTCCTGCAGCTTTCTGTGAGGCCCGCCTCTCCTAAGGTGGAAAGAGTGCCTCACTCTCGGCACAGACACACTCAACCGGGGCAGGTGCATCTGCTGTGCCCCCACCTCAGCTATTGGACCGTTTCTCAGTCCTTCAGGACTGCAGCCGCCTTCTGTCCTCTTTCCAGAGCCCATCCCGAAGTCTCAGGATATGAGGGCTTGGGGCATCTGAGATATCAAGGATGGGGCTGTCCTGAGTCCACTGGGGGCAGGAGGCGGCCAGCAGCAGGTGGCAGGGACAGGGGCCCCAGGTTTCTGTGTGGAGTAGGGG
TGGAGGCTGCCCACCTAGCCCTCTAGACAGACGCTCGGCCCCACTCAGGCAGGCGCCCCCCTCTCATCTCAGCCTCTCACAGCACCCTGTTGGCCGCCTCTTCCTTAGCCTGCTCAGCCTCCGTGGTAGGTGCTGTGGGTGACGACCACAGCACCCAGCCTTTGAAGCTGGCCCGGGTCCACCCAGACCCTAGCAAACTGGTTGCTCCCTCTCTGGCCATCCCGGGGCTTGTGCCCACGTCACCCAGCAGCATCTTCCCTGGGGTTGTCTCACCCGCACAGAACCCAGCCCTGGCCCACACCTCACCCCAAGCCTATCCGGCTGGATCAGCAGTGGGGCCGGGCGCATGAGGGACCAGGCCCGCCCGGCGCAGCCTAGGGTGCAGACCCCTGGAGTGCACGGCCAGGTGGACCGGGCCAGCTCCCGCCTGCTGCCTGTGCTTAGGGCCAGTGGTTGACGTTGCTGTGGCTGAGTCATCTTCGTGCCTCTCTCTGGAGCCATACGTTTCCCTGAAGCAGCTCTGCTGTTCAGCCCTTATCGCGTGCTGATCTGTTTGCCCCTCCCCCACCACTTCTAGGTCTTTCCAGGCCTCCAGGTACCCACGGTGGGGGAGGGTCTACTTCATTCTCCACAGAGCACGCTGAGGGGCTCTCCTGCAAGAACACCGCAGGCTGAAGGACCAGCCCTGTCTCCTGTGGCCACCAACAGAGCTGTGCGCCCTCCCCGAACCCTCACTCATGCTAGGGCCCCCAGGTCCAACCTCCTAGGGAGAGGGGTCCCCAACCTGGACTCCCTCACCTGCCCTAGTCTGCCCCTGGGGTTGGCCCTGCTCCACCCAGCACCTGCTCTGAGGGTGCCAGGGTGCCGGCCTGCCGGCCAGGGCCTTCCAGTCTCCCCATCAAGGCTGGATGGCCACTTCCCACCCGGGGCGGGCTCCAGCCTCATTCCCCAGCGGTGCTGTCCTTCCAAGGAGCTCTCAGATCACCTGGCTGTCCACTCGTTTGGGGCTTCTCTGCTGCCTCCGCAGCACTGCGAGGCCTCTGATCACCTACTCTCTGTGCTGGGTGCATTTCGGGTTCTGTCCTGCCTTGACCTCCCTGCCAGCTTTGCAGGGCAGCCACCCTGGCACATAGCTCACTGCAGAACCAGCCCCTGAGAAGGTGGAGGCCACATGGCTAGCCAGAGGGCACGCTCTAGGGCACTGCTCTGACCACAGAATGTGGGTGCAGATGGTGTCTGGGAAAATAGTGGTGTCCCCGCTAGGTTAAAGACATGGCATAATGGTTCCTGGGGGATGACAAAAAAACCCACCCCCACCCCCTTGCAGAAAGCATCACAGAGGCACAAGCCCTGTGCCCTGCAAGCCCCTCCTGGAAGTGGCCCAGCAGGGGCATCCCCTGCACACCCAGGCAAAGCCCAAGCCCTCTGCCTCCTCAACCACCCCAGGCCCTGCCCATGAGCCAGCCTTGCTGAACTCTGCCCTCTGTCCAGTTCTCCTCCAGACACAGTAGACATAGCCCCCAGCCTTTCTTGACCCTTAACCCAAATGTCCCCAAGCCTGGCCTCAAGAAGCCAAAGGCTGCCGCAAACCCAAATATTTCAGGTCCGGGTCCCTGGTGCAGACCCTGCCATGCGGGGATGTGGCACAGAAGGCCGGCCAGCCTGGGGAGCAGAGAAGGAGGAGAGGAGAGCTCCTGGCCCTGAGCCTGAATGCCTGTGGACACATATAGGGACTCCCAGCACGCACGGGATGGACTCCAATCGGCACACATGCACATTCCTTGCACACACACAGGCGCGACCGAGGGCCTTGCAGACATAGGGTGCACACGTGCGTGCCGCCTGCATACAGCATGCACTTGCAGAGACGGTTGGCACCTTCCCTTCTCTGGCCCCAAACCTGGGCCCTGAGGCTGTCTGCACACCTGGGTGCTTCCCACCACTGACTCTCTCGTCTGCCTTTGTCCCCGCAGGTGACGCAGCTGGACCAGAGGCTGGCACTCATCACCGACATGCTTCACCAGCTGCTCTCCTTGCACGGTGGCAGCACCCCCCGGCAGCGGCGGCCCCCCCAGAGAGGGCGGGGCCCACATCACCCAGCCCTGCGGCAGTGGCGGCTCCGTCGACCCTGAGCTCTTCCTGCCCAGCAACACCCTGCCCACCTACGAGCAGCTGACCGTGCCCAGGAGGGGCCCCGATGAGGGGTCCTGAGGAGGGGATGGGGCTGGGGGATGGGCCTGAGTGAGAGGGGAGGCCAAGAGTGGCCCCACCTGGCCCTCTCTGAAGGAGGCCACCTCCTAAAAGGCCCAGAGAGAAGAGCCCCACTCTCAGAGGCCCCAATACCCCATGGACCATGCTGTCTGGCACAGCCTGCACTTGGGGGCTCAGCAAGGCCACCTCTTCCTGGCCGGTGTGGGGGCCCCGTCTCAGGTCTGAGTTGTTACCCCAAGCGCCCTGGCCCCCACATGGTGATGTTGACATCACTGGCATGGTGGTTGGGACCCAGTGGCAGGGCACAGGGCCTGGCCCATGTATGGCCAGGAAGTAGCACAGGCTGAGTGCAGGCCCACCCTGCTTGGCCCAGGGGGCTTCCTGAGGGGAGACAGAGCAACCCCTGGACCCCAGCCTCAAATCCAGGACCCTGCCAGGCACAGGCAGGGCAGGACCAGCCCACGCTGACTACAGGGCCGCCGGCAATAAAAGCCCAGGAGCCCATTTGGAGGGCCTGGGCCTGGCTCCCTCACTCTCAGGAAATGCTGACCCATGGGCAGGAGACTGTGGAGACTGCTCCTGAGCCCCCAGCTTCCAGCAGGAGGGACAGTCTCACCATTTCCCCAGGGCACGTGGTTGAGTGGGGGGAACGCCCACTTCCCTGGGTTAGACTGCCAGCTCTTCCTAGCTGGAGAGGAGCCCTGCCTCTCCGCCCCTGAGCCCACTGTGCGTGGGGCTCCCGCCTCCAACCCCTCGCCCAGTCCCAGCAGCCAGCCAAACACACAGAAGGGGACTGCCACCTCCCCTTGCCAGCTGCTGAGCCGCAGAGAAGTGACGGTTCCTACACAGGACAGGGGTTCCTTCTGGGCATTACATCGCATAGAAATCAATAATTTGTGGTGATTTGGATCTGTGTTTTAATGAGTTTCACAGTGTGATTTTGATTATTAATTGTGCAAGCTTTTCCTAATAAACGTGGAGAATCACAGGCTGGGCTGGGCACTGCTCTCACCTTGGTTCCTGGGGCATCCATGGGGTCTCTCACAGACAGGACCCCTGCAGTTCCCCTGGAAGCAGTGCCCAGGTGGCTGTGGAATAGGAACGCTATGTCCGTGTACTGAGGAGTAGGTCAGGGTTCAGAGGGGCTGCAAGATGCCATCGAAGGCTCTAGCTTAGCGACGTCGCTCCTGTTCTGGGCCCTGGGCTGGCCCTGGCCATGAAGTGCAGTCACAGTGTGGTCACTGCCTGTCTTCCAGCAGACTCTATGCCCTTGCGGCAGATGGGCTCTGTCTGGGCCTCTCTGTCTGCCCCTCCCAGGCCAGGGTGGCCCTTCATCAAGGACCCACATGCTCCACTCTGGGAGCAGGCCCCACCCAGGCCCATTCCCCAGGATGCCAAGGGCTAAACTCTGGAGGGGTTGTGGTGCAAGGAAGGCCTGGGGCCCCTGAGGCTCCCATATGCTCACCCCTGGCCTCCTCCGGGCCTCTATTTCCCCATTGGTAACACGATGCTCCCTTAGCCTGTCCAGTTCTCTGAGTGGGACAGAGGGGCCACCACCCTGCTCGCCCTGACCCTGTTCCTGCAGCTTTCTGTGAGGCCCGCCTCTCCTAAGGTGGAAAGAGTGCCTCACTCTCGGCACAGACACACTCAACCGGGGCAGGTGCATCTGCTGTGCCCCCACCTCAGCTATTGGACCGTTTCTCAGTCCTTCAGGACTGCAGCCGCCTTCTGTCCTCTTTCCAGAGCCCATCCCGAAGTCTCAGGATATGAGGGCTTGGGGCATCTGAGATATCAAGGATGGGGCTGTCCTGAGTCCACTGGGGGCAGGAGGCGGCCAGCAGCAGGTGGCAGGGACAGGGGCCCCAGGTTTCTGTGTGGAGTAGGG
pathogenic
170,996
The chromosome 11, position 2847858 genetic variant in gene KCNQ1: benign or pathogenic? If pathogenic, indicate disease(s).
pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Congenital_long_QT_syndrome', 'Long_QT_syndrome', 'Long_QT_syndrome_1']
AGCCCTCTAGACAGACGCTCGGCCCCACTCAGGCAGGCGCCCCCCTCTCATCTCAGCCTCTCACAGCACCCTGTTGGCCGCCTCTTCCTTAGCCTGCTCAGCCTCCGTGGTAGGTGCTGTGGGTGACGACCACAGCACCCAGCCTTTGAAGCTGGCCCGGGTCCACCCAGACCCTAGCAAACTGGTTGCTCCCTCTCTGGCCATCCCGGGGCTTGTGCCCACGTCACCCAGCAGCATCTTCCCTGGGGTTGTCTCACCCGCACAGAACCCAGCCCTGGCCCACACCTCACCCCAAGCCTATCCGGCTGGATCAGCAGTGGGGCCGGGCGCATGAGGGACCAGGCCCGCCCGGCGCAGCCTAGGGTGCAGACCCCTGGAGTGCACGGCCAGGTGGACCGGGCCAGCTCCCGCCTGCTGCCTGTGCTTAGGGCCAGTGGTTGACGTTGCTGTGGCTGAGTCATCTTCGTGCCTCTCTCTGGAGCCATACGTTTCCCTGAAGCAGCTCTGCTGTTCAGCCCTTATCGCGTGCTGATCTGTTTGCCCCTCCCCCACCACTTCTAGGTCTTTCCAGGCCTCCAGGTACCCACGGTGGGGGAGGGTCTACTTCATTCTCCACAGAGCACGCTGAGGGGCTCTCCTGCAAGAACACCGCAGGCTGAAGGACCAGCCCTGTCTCCTGTGGCCACCAACAGAGCTGTGCGCCCTCCCCGAACCCTCACTCATGCTAGGGCCCCCAGGTCCAACCTCCTAGGGAGAGGGGTCCCCAACCTGGACTCCCTCACCTGCCCTAGTCTGCCCCTGGGGTTGGCCCTGCTCCACCCAGCACCTGCTCTGAGGGTGCCAGGGTGCCGGCCTGCCGGCCAGGGCCTTCCAGTCTCCCCATCAAGGCTGGATGGCCACTTCCCACCCGGGGCGGGCTCCAGCCTCATTCCCCAGCGGTGCTGTCCTTCCAAGGAGCTCTCAGATCACCTGGCTGTCCACTCGTTTGGGGCTTCTCTGCTGCCTCCGCAGCACTGCGAGGCCTCTGATCACCTACTCTCTGTGCTGGGTGCATTTCGGGTTCTGTCCTGCCTTGACCTCCCTGCCAGCTTTGCAGGGCAGCCACCCTGGCACATAGCTCACTGCAGAACCAGCCCCTGAGAAGGTGGAGGCCACATGGCTAGCCAGAGGGCACGCTCTAGGGCACTGCTCTGACCACAGAATGTGGGTGCAGATGGTGTCTGGGAAAATAGTGGTGTCCCCGCTAGGTTAAAGACATGGCATAATGGTTCCTGGGGGATGACAAAAAAACCCACCCCCACCCCCTTGCAGAAAGCATCACAGAGGCACAAGCCCTGTGCCCTGCAAGCCCCTCCTGGAAGTGGCCCAGCAGGGGCATCCCCTGCACACCCAGGCAAAGCCCAAGCCCTCTGCCTCCTCAACCACCCCAGGCCCTGCCCATGAGCCAGCCTTGCTGAACTCTGCCCTCTGTCCAGTTCTCCTCCAGACACAGTAGACATAGCCCCCAGCCTTTCTTGACCCTTAACCCAAATGTCCCCAAGCCTGGCCTCAAGAAGCCAAAGGCTGCCGCAAACCCAAATATTTCAGGTCCGGGTCCCTGGTGCAGACCCTGCCATGCGGGGATGTGGCACAGAAGGCCGGCCAGCCTGGGGAGCAGAGAAGGAGGAGAGGAGAGCTCCTGGCCCTGAGCCTGAATGCCTGTGGACACATATAGGGACTCCCAGCACGCACGGGATGGACTCCAATCGGCACACATGCACATTCCTTGCACACACACAGGCGCGACCGAGGGCCTTGCAGACATAGGGTGCACACGTGCGTGCCGCCTGCATACAGCATGCACTTGCAGAGACGGTTGGCACCTTCCCTTCTCTGGCCCCAAACCTGGGCCCTGAGGCTGTCTGCACACCTGGGTGCTTCCCACCACTGACTCTCTCGTCTGCCTTTGTCCCCGCAGGTGACGCAGCTGGACCAGAGGCTGGCACTCATCACCGACATGCTTCACCAGCTGCTCTCCTTGCACGGTGGCAGCACCCCCGGCAGCGGCGGCCCCCCCAGAGAGGGCGGGGCCCACATCACCCAGCCCTGCGGCAGTGGCGGCTCCGTCGACCCTGAGCTCTTCCTGCCCAGCAACACCCTGCCCACCTACGAGCAGCTGACCGTGCCCAGGAGGGGCCCCGATGAGGGGTCCTGAGGAGGGGATGGGGCTGGGGGATGGGCCTGAGTGAGAGGGGAGGCCAAGAGTGGCCCCACCTGGCCCTCTCTGAAGGAGGCCACCTCCTAAAAGGCCCAGAGAGAAGAGCCCCACTCTCAGAGGCCCCAATACCCCATGGACCATGCTGTCTGGCACAGCCTGCACTTGGGGGCTCAGCAAGGCCACCTCTTCCTGGCCGGTGTGGGGGCCCCGTCTCAGGTCTGAGTTGTTACCCCAAGCGCCCTGGCCCCCACATGGTGATGTTGACATCACTGGCATGGTGGTTGGGACCCAGTGGCAGGGCACAGGGCCTGGCCCATGTATGGCCAGGAAGTAGCACAGGCTGAGTGCAGGCCCACCCTGCTTGGCCCAGGGGGCTTCCTGAGGGGAGACAGAGCAACCCCTGGACCCCAGCCTCAAATCCAGGACCCTGCCAGGCACAGGCAGGGCAGGACCAGCCCACGCTGACTACAGGGCCGCCGGCAATAAAAGCCCAGGAGCCCATTTGGAGGGCCTGGGCCTGGCTCCCTCACTCTCAGGAAATGCTGACCCATGGGCAGGAGACTGTGGAGACTGCTCCTGAGCCCCCAGCTTCCAGCAGGAGGGACAGTCTCACCATTTCCCCAGGGCACGTGGTTGAGTGGGGGGAACGCCCACTTCCCTGGGTTAGACTGCCAGCTCTTCCTAGCTGGAGAGGAGCCCTGCCTCTCCGCCCCTGAGCCCACTGTGCGTGGGGCTCCCGCCTCCAACCCCTCGCCCAGTCCCAGCAGCCAGCCAAACACACAGAAGGGGACTGCCACCTCCCCTTGCCAGCTGCTGAGCCGCAGAGAAGTGACGGTTCCTACACAGGACAGGGGTTCCTTCTGGGCATTACATCGCATAGAAATCAATAATTTGTGGTGATTTGGATCTGTGTTTTAATGAGTTTCACAGTGTGATTTTGATTATTAATTGTGCAAGCTTTTCCTAATAAACGTGGAGAATCACAGGCTGGGCTGGGCACTGCTCTCACCTTGGTTCCTGGGGCATCCATGGGGTCTCTCACAGACAGGACCCCTGCAGTTCCCCTGGAAGCAGTGCCCAGGTGGCTGTGGAATAGGAACGCTATGTCCGTGTACTGAGGAGTAGGTCAGGGTTCAGAGGGGCTGCAAGATGCCATCGAAGGCTCTAGCTTAGCGACGTCGCTCCTGTTCTGGGCCCTGGGCTGGCCCTGGCCATGAAGTGCAGTCACAGTGTGGTCACTGCCTGTCTTCCAGCAGACTCTATGCCCTTGCGGCAGATGGGCTCTGTCTGGGCCTCTCTGTCTGCCCCTCCCAGGCCAGGGTGGCCCTTCATCAAGGACCCACATGCTCCACTCTGGGAGCAGGCCCCACCCAGGCCCATTCCCCAGGATGCCAAGGGCTAAACTCTGGAGGGGTTGTGGTGCAAGGAAGGCCTGGGGCCCCTGAGGCTCCCATATGCTCACCCCTGGCCTCCTCCGGGCCTCTATTTCCCCATTGGTAACACGATGCTCCCTTAGCCTGTCCAGTTCTCTGAGTGGGACAGAGGGGCCACCACCCTGCTCGCCCTGACCCTGTTCCTGCAGCTTTCTGTGAGGCCCGCCTCTCCTAAGGTGGAAAGAGTGCCTCACTCTCGGCACAGACACACTCAACCGGGGCAGGTGCATCTGCTGTGCCCCCACCTCAGCTATTGGACCGTTTCTCAGTCCTTCAGGACTGCAGCCGCCTTCTGTCCTCTTTCCAGAGCCCATCCCGAAGTCTCAGGATATGAGGGCTTGGGGCATCTGAGATATCAAGGATGGGGCTGTCCTGAGTCCACTGGGGGCAGGAGGCGGCCAGCAGCAGGTGGCAGGGACAGGGGCCCCAGGTTTCTGTGTGGAGTAGGGGTGGAAGCCCTTGTTAG
AGCCCTCTAGACAGACGCTCGGCCCCACTCAGGCAGGCGCCCCCCTCTCATCTCAGCCTCTCACAGCACCCTGTTGGCCGCCTCTTCCTTAGCCTGCTCAGCCTCCGTGGTAGGTGCTGTGGGTGACGACCACAGCACCCAGCCTTTGAAGCTGGCCCGGGTCCACCCAGACCCTAGCAAACTGGTTGCTCCCTCTCTGGCCATCCCGGGGCTTGTGCCCACGTCACCCAGCAGCATCTTCCCTGGGGTTGTCTCACCCGCACAGAACCCAGCCCTGGCCCACACCTCACCCCAAGCCTATCCGGCTGGATCAGCAGTGGGGCCGGGCGCATGAGGGACCAGGCCCGCCCGGCGCAGCCTAGGGTGCAGACCCCTGGAGTGCACGGCCAGGTGGACCGGGCCAGCTCCCGCCTGCTGCCTGTGCTTAGGGCCAGTGGTTGACGTTGCTGTGGCTGAGTCATCTTCGTGCCTCTCTCTGGAGCCATACGTTTCCCTGAAGCAGCTCTGCTGTTCAGCCCTTATCGCGTGCTGATCTGTTTGCCCCTCCCCCACCACTTCTAGGTCTTTCCAGGCCTCCAGGTACCCACGGTGGGGGAGGGTCTACTTCATTCTCCACAGAGCACGCTGAGGGGCTCTCCTGCAAGAACACCGCAGGCTGAAGGACCAGCCCTGTCTCCTGTGGCCACCAACAGAGCTGTGCGCCCTCCCCGAACCCTCACTCATGCTAGGGCCCCCAGGTCCAACCTCCTAGGGAGAGGGGTCCCCAACCTGGACTCCCTCACCTGCCCTAGTCTGCCCCTGGGGTTGGCCCTGCTCCACCCAGCACCTGCTCTGAGGGTGCCAGGGTGCCGGCCTGCCGGCCAGGGCCTTCCAGTCTCCCCATCAAGGCTGGATGGCCACTTCCCACCCGGGGCGGGCTCCAGCCTCATTCCCCAGCGGTGCTGTCCTTCCAAGGAGCTCTCAGATCACCTGGCTGTCCACTCGTTTGGGGCTTCTCTGCTGCCTCCGCAGCACTGCGAGGCCTCTGATCACCTACTCTCTGTGCTGGGTGCATTTCGGGTTCTGTCCTGCCTTGACCTCCCTGCCAGCTTTGCAGGGCAGCCACCCTGGCACATAGCTCACTGCAGAACCAGCCCCTGAGAAGGTGGAGGCCACATGGCTAGCCAGAGGGCACGCTCTAGGGCACTGCTCTGACCACAGAATGTGGGTGCAGATGGTGTCTGGGAAAATAGTGGTGTCCCCGCTAGGTTAAAGACATGGCATAATGGTTCCTGGGGGATGACAAAAAAACCCACCCCCACCCCCTTGCAGAAAGCATCACAGAGGCACAAGCCCTGTGCCCTGCAAGCCCCTCCTGGAAGTGGCCCAGCAGGGGCATCCCCTGCACACCCAGGCAAAGCCCAAGCCCTCTGCCTCCTCAACCACCCCAGGCCCTGCCCATGAGCCAGCCTTGCTGAACTCTGCCCTCTGTCCAGTTCTCCTCCAGACACAGTAGACATAGCCCCCAGCCTTTCTTGACCCTTAACCCAAATGTCCCCAAGCCTGGCCTCAAGAAGCCAAAGGCTGCCGCAAACCCAAATATTTCAGGTCCGGGTCCCTGGTGCAGACCCTGCCATGCGGGGATGTGGCACAGAAGGCCGGCCAGCCTGGGGAGCAGAGAAGGAGGAGAGGAGAGCTCCTGGCCCTGAGCCTGAATGCCTGTGGACACATATAGGGACTCCCAGCACGCACGGGATGGACTCCAATCGGCACACATGCACATTCCTTGCACACACACAGGCGCGACCGAGGGCCTTGCAGACATAGGGTGCACACGTGCGTGCCGCCTGCATACAGCATGCACTTGCAGAGACGGTTGGCACCTTCCCTTCTCTGGCCCCAAACCTGGGCCCTGAGGCTGTCTGCACACCTGGGTGCTTCCCACCACTGACTCTCTCGTCTGCCTTTGTCCCCGCAGGTGACGCAGCTGGACCAGAGGCTGGCACTCATCACCGACATGCTTCACCAGCTGCTCTCCTTGCACGGTGGCAGCACCCCCGGCAGCGGCGGCCCCCCCCAGAGAGGGCGGGGCCCACATCACCCAGCCCTGCGGCAGTGGCGGCTCCGTCGACCCTGAGCTCTTCCTGCCCAGCAACACCCTGCCCACCTACGAGCAGCTGACCGTGCCCAGGAGGGGCCCCGATGAGGGGTCCTGAGGAGGGGATGGGGCTGGGGGATGGGCCTGAGTGAGAGGGGAGGCCAAGAGTGGCCCCACCTGGCCCTCTCTGAAGGAGGCCACCTCCTAAAAGGCCCAGAGAGAAGAGCCCCACTCTCAGAGGCCCCAATACCCCATGGACCATGCTGTCTGGCACAGCCTGCACTTGGGGGCTCAGCAAGGCCACCTCTTCCTGGCCGGTGTGGGGGCCCCGTCTCAGGTCTGAGTTGTTACCCCAAGCGCCCTGGCCCCCACATGGTGATGTTGACATCACTGGCATGGTGGTTGGGACCCAGTGGCAGGGCACAGGGCCTGGCCCATGTATGGCCAGGAAGTAGCACAGGCTGAGTGCAGGCCCACCCTGCTTGGCCCAGGGGGCTTCCTGAGGGGAGACAGAGCAACCCCTGGACCCCAGCCTCAAATCCAGGACCCTGCCAGGCACAGGCAGGGCAGGACCAGCCCACGCTGACTACAGGGCCGCCGGCAATAAAAGCCCAGGAGCCCATTTGGAGGGCCTGGGCCTGGCTCCCTCACTCTCAGGAAATGCTGACCCATGGGCAGGAGACTGTGGAGACTGCTCCTGAGCCCCCAGCTTCCAGCAGGAGGGACAGTCTCACCATTTCCCCAGGGCACGTGGTTGAGTGGGGGGAACGCCCACTTCCCTGGGTTAGACTGCCAGCTCTTCCTAGCTGGAGAGGAGCCCTGCCTCTCCGCCCCTGAGCCCACTGTGCGTGGGGCTCCCGCCTCCAACCCCTCGCCCAGTCCCAGCAGCCAGCCAAACACACAGAAGGGGACTGCCACCTCCCCTTGCCAGCTGCTGAGCCGCAGAGAAGTGACGGTTCCTACACAGGACAGGGGTTCCTTCTGGGCATTACATCGCATAGAAATCAATAATTTGTGGTGATTTGGATCTGTGTTTTAATGAGTTTCACAGTGTGATTTTGATTATTAATTGTGCAAGCTTTTCCTAATAAACGTGGAGAATCACAGGCTGGGCTGGGCACTGCTCTCACCTTGGTTCCTGGGGCATCCATGGGGTCTCTCACAGACAGGACCCCTGCAGTTCCCCTGGAAGCAGTGCCCAGGTGGCTGTGGAATAGGAACGCTATGTCCGTGTACTGAGGAGTAGGTCAGGGTTCAGAGGGGCTGCAAGATGCCATCGAAGGCTCTAGCTTAGCGACGTCGCTCCTGTTCTGGGCCCTGGGCTGGCCCTGGCCATGAAGTGCAGTCACAGTGTGGTCACTGCCTGTCTTCCAGCAGACTCTATGCCCTTGCGGCAGATGGGCTCTGTCTGGGCCTCTCTGTCTGCCCCTCCCAGGCCAGGGTGGCCCTTCATCAAGGACCCACATGCTCCACTCTGGGAGCAGGCCCCACCCAGGCCCATTCCCCAGGATGCCAAGGGCTAAACTCTGGAGGGGTTGTGGTGCAAGGAAGGCCTGGGGCCCCTGAGGCTCCCATATGCTCACCCCTGGCCTCCTCCGGGCCTCTATTTCCCCATTGGTAACACGATGCTCCCTTAGCCTGTCCAGTTCTCTGAGTGGGACAGAGGGGCCACCACCCTGCTCGCCCTGACCCTGTTCCTGCAGCTTTCTGTGAGGCCCGCCTCTCCTAAGGTGGAAAGAGTGCCTCACTCTCGGCACAGACACACTCAACCGGGGCAGGTGCATCTGCTGTGCCCCCACCTCAGCTATTGGACCGTTTCTCAGTCCTTCAGGACTGCAGCCGCCTTCTGTCCTCTTTCCAGAGCCCATCCCGAAGTCTCAGGATATGAGGGCTTGGGGCATCTGAGATATCAAGGATGGGGCTGTCCTGAGTCCACTGGGGGCAGGAGGCGGCCAGCAGCAGGTGGCAGGGACAGGGGCCCCAGGTTTCTGTGTGGAGTAGGGGTGGAAGCCCTTGTTA
pathogenic
171,001
Evaluate if the mutation on chromosome 11 at position 2847858 in KCNQ1 is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['Cardiac_arrhythmia', 'Long_QT_syndrome', 'Long_QT_syndrome_1']
AGCCCTCTAGACAGACGCTCGGCCCCACTCAGGCAGGCGCCCCCCTCTCATCTCAGCCTCTCACAGCACCCTGTTGGCCGCCTCTTCCTTAGCCTGCTCAGCCTCCGTGGTAGGTGCTGTGGGTGACGACCACAGCACCCAGCCTTTGAAGCTGGCCCGGGTCCACCCAGACCCTAGCAAACTGGTTGCTCCCTCTCTGGCCATCCCGGGGCTTGTGCCCACGTCACCCAGCAGCATCTTCCCTGGGGTTGTCTCACCCGCACAGAACCCAGCCCTGGCCCACACCTCACCCCAAGCCTATCCGGCTGGATCAGCAGTGGGGCCGGGCGCATGAGGGACCAGGCCCGCCCGGCGCAGCCTAGGGTGCAGACCCCTGGAGTGCACGGCCAGGTGGACCGGGCCAGCTCCCGCCTGCTGCCTGTGCTTAGGGCCAGTGGTTGACGTTGCTGTGGCTGAGTCATCTTCGTGCCTCTCTCTGGAGCCATACGTTTCCCTGAAGCAGCTCTGCTGTTCAGCCCTTATCGCGTGCTGATCTGTTTGCCCCTCCCCCACCACTTCTAGGTCTTTCCAGGCCTCCAGGTACCCACGGTGGGGGAGGGTCTACTTCATTCTCCACAGAGCACGCTGAGGGGCTCTCCTGCAAGAACACCGCAGGCTGAAGGACCAGCCCTGTCTCCTGTGGCCACCAACAGAGCTGTGCGCCCTCCCCGAACCCTCACTCATGCTAGGGCCCCCAGGTCCAACCTCCTAGGGAGAGGGGTCCCCAACCTGGACTCCCTCACCTGCCCTAGTCTGCCCCTGGGGTTGGCCCTGCTCCACCCAGCACCTGCTCTGAGGGTGCCAGGGTGCCGGCCTGCCGGCCAGGGCCTTCCAGTCTCCCCATCAAGGCTGGATGGCCACTTCCCACCCGGGGCGGGCTCCAGCCTCATTCCCCAGCGGTGCTGTCCTTCCAAGGAGCTCTCAGATCACCTGGCTGTCCACTCGTTTGGGGCTTCTCTGCTGCCTCCGCAGCACTGCGAGGCCTCTGATCACCTACTCTCTGTGCTGGGTGCATTTCGGGTTCTGTCCTGCCTTGACCTCCCTGCCAGCTTTGCAGGGCAGCCACCCTGGCACATAGCTCACTGCAGAACCAGCCCCTGAGAAGGTGGAGGCCACATGGCTAGCCAGAGGGCACGCTCTAGGGCACTGCTCTGACCACAGAATGTGGGTGCAGATGGTGTCTGGGAAAATAGTGGTGTCCCCGCTAGGTTAAAGACATGGCATAATGGTTCCTGGGGGATGACAAAAAAACCCACCCCCACCCCCTTGCAGAAAGCATCACAGAGGCACAAGCCCTGTGCCCTGCAAGCCCCTCCTGGAAGTGGCCCAGCAGGGGCATCCCCTGCACACCCAGGCAAAGCCCAAGCCCTCTGCCTCCTCAACCACCCCAGGCCCTGCCCATGAGCCAGCCTTGCTGAACTCTGCCCTCTGTCCAGTTCTCCTCCAGACACAGTAGACATAGCCCCCAGCCTTTCTTGACCCTTAACCCAAATGTCCCCAAGCCTGGCCTCAAGAAGCCAAAGGCTGCCGCAAACCCAAATATTTCAGGTCCGGGTCCCTGGTGCAGACCCTGCCATGCGGGGATGTGGCACAGAAGGCCGGCCAGCCTGGGGAGCAGAGAAGGAGGAGAGGAGAGCTCCTGGCCCTGAGCCTGAATGCCTGTGGACACATATAGGGACTCCCAGCACGCACGGGATGGACTCCAATCGGCACACATGCACATTCCTTGCACACACACAGGCGCGACCGAGGGCCTTGCAGACATAGGGTGCACACGTGCGTGCCGCCTGCATACAGCATGCACTTGCAGAGACGGTTGGCACCTTCCCTTCTCTGGCCCCAAACCTGGGCCCTGAGGCTGTCTGCACACCTGGGTGCTTCCCACCACTGACTCTCTCGTCTGCCTTTGTCCCCGCAGGTGACGCAGCTGGACCAGAGGCTGGCACTCATCACCGACATGCTTCACCAGCTGCTCTCCTTGCACGGTGGCAGCACCCCCGGCAGCGGCGGCCCCCCCAGAGAGGGCGGGGCCCACATCACCCAGCCCTGCGGCAGTGGCGGCTCCGTCGACCCTGAGCTCTTCCTGCCCAGCAACACCCTGCCCACCTACGAGCAGCTGACCGTGCCCAGGAGGGGCCCCGATGAGGGGTCCTGAGGAGGGGATGGGGCTGGGGGATGGGCCTGAGTGAGAGGGGAGGCCAAGAGTGGCCCCACCTGGCCCTCTCTGAAGGAGGCCACCTCCTAAAAGGCCCAGAGAGAAGAGCCCCACTCTCAGAGGCCCCAATACCCCATGGACCATGCTGTCTGGCACAGCCTGCACTTGGGGGCTCAGCAAGGCCACCTCTTCCTGGCCGGTGTGGGGGCCCCGTCTCAGGTCTGAGTTGTTACCCCAAGCGCCCTGGCCCCCACATGGTGATGTTGACATCACTGGCATGGTGGTTGGGACCCAGTGGCAGGGCACAGGGCCTGGCCCATGTATGGCCAGGAAGTAGCACAGGCTGAGTGCAGGCCCACCCTGCTTGGCCCAGGGGGCTTCCTGAGGGGAGACAGAGCAACCCCTGGACCCCAGCCTCAAATCCAGGACCCTGCCAGGCACAGGCAGGGCAGGACCAGCCCACGCTGACTACAGGGCCGCCGGCAATAAAAGCCCAGGAGCCCATTTGGAGGGCCTGGGCCTGGCTCCCTCACTCTCAGGAAATGCTGACCCATGGGCAGGAGACTGTGGAGACTGCTCCTGAGCCCCCAGCTTCCAGCAGGAGGGACAGTCTCACCATTTCCCCAGGGCACGTGGTTGAGTGGGGGGAACGCCCACTTCCCTGGGTTAGACTGCCAGCTCTTCCTAGCTGGAGAGGAGCCCTGCCTCTCCGCCCCTGAGCCCACTGTGCGTGGGGCTCCCGCCTCCAACCCCTCGCCCAGTCCCAGCAGCCAGCCAAACACACAGAAGGGGACTGCCACCTCCCCTTGCCAGCTGCTGAGCCGCAGAGAAGTGACGGTTCCTACACAGGACAGGGGTTCCTTCTGGGCATTACATCGCATAGAAATCAATAATTTGTGGTGATTTGGATCTGTGTTTTAATGAGTTTCACAGTGTGATTTTGATTATTAATTGTGCAAGCTTTTCCTAATAAACGTGGAGAATCACAGGCTGGGCTGGGCACTGCTCTCACCTTGGTTCCTGGGGCATCCATGGGGTCTCTCACAGACAGGACCCCTGCAGTTCCCCTGGAAGCAGTGCCCAGGTGGCTGTGGAATAGGAACGCTATGTCCGTGTACTGAGGAGTAGGTCAGGGTTCAGAGGGGCTGCAAGATGCCATCGAAGGCTCTAGCTTAGCGACGTCGCTCCTGTTCTGGGCCCTGGGCTGGCCCTGGCCATGAAGTGCAGTCACAGTGTGGTCACTGCCTGTCTTCCAGCAGACTCTATGCCCTTGCGGCAGATGGGCTCTGTCTGGGCCTCTCTGTCTGCCCCTCCCAGGCCAGGGTGGCCCTTCATCAAGGACCCACATGCTCCACTCTGGGAGCAGGCCCCACCCAGGCCCATTCCCCAGGATGCCAAGGGCTAAACTCTGGAGGGGTTGTGGTGCAAGGAAGGCCTGGGGCCCCTGAGGCTCCCATATGCTCACCCCTGGCCTCCTCCGGGCCTCTATTTCCCCATTGGTAACACGATGCTCCCTTAGCCTGTCCAGTTCTCTGAGTGGGACAGAGGGGCCACCACCCTGCTCGCCCTGACCCTGTTCCTGCAGCTTTCTGTGAGGCCCGCCTCTCCTAAGGTGGAAAGAGTGCCTCACTCTCGGCACAGACACACTCAACCGGGGCAGGTGCATCTGCTGTGCCCCCACCTCAGCTATTGGACCGTTTCTCAGTCCTTCAGGACTGCAGCCGCCTTCTGTCCTCTTTCCAGAGCCCATCCCGAAGTCTCAGGATATGAGGGCTTGGGGCATCTGAGATATCAAGGATGGGGCTGTCCTGAGTCCACTGGGGGCAGGAGGCGGCCAGCAGCAGGTGGCAGGGACAGGGGCCCCAGGTTTCTGTGTGGAGTAGGGGTGGAAGCCCTTGTTAG
AGCCCTCTAGACAGACGCTCGGCCCCACTCAGGCAGGCGCCCCCCTCTCATCTCAGCCTCTCACAGCACCCTGTTGGCCGCCTCTTCCTTAGCCTGCTCAGCCTCCGTGGTAGGTGCTGTGGGTGACGACCACAGCACCCAGCCTTTGAAGCTGGCCCGGGTCCACCCAGACCCTAGCAAACTGGTTGCTCCCTCTCTGGCCATCCCGGGGCTTGTGCCCACGTCACCCAGCAGCATCTTCCCTGGGGTTGTCTCACCCGCACAGAACCCAGCCCTGGCCCACACCTCACCCCAAGCCTATCCGGCTGGATCAGCAGTGGGGCCGGGCGCATGAGGGACCAGGCCCGCCCGGCGCAGCCTAGGGTGCAGACCCCTGGAGTGCACGGCCAGGTGGACCGGGCCAGCTCCCGCCTGCTGCCTGTGCTTAGGGCCAGTGGTTGACGTTGCTGTGGCTGAGTCATCTTCGTGCCTCTCTCTGGAGCCATACGTTTCCCTGAAGCAGCTCTGCTGTTCAGCCCTTATCGCGTGCTGATCTGTTTGCCCCTCCCCCACCACTTCTAGGTCTTTCCAGGCCTCCAGGTACCCACGGTGGGGGAGGGTCTACTTCATTCTCCACAGAGCACGCTGAGGGGCTCTCCTGCAAGAACACCGCAGGCTGAAGGACCAGCCCTGTCTCCTGTGGCCACCAACAGAGCTGTGCGCCCTCCCCGAACCCTCACTCATGCTAGGGCCCCCAGGTCCAACCTCCTAGGGAGAGGGGTCCCCAACCTGGACTCCCTCACCTGCCCTAGTCTGCCCCTGGGGTTGGCCCTGCTCCACCCAGCACCTGCTCTGAGGGTGCCAGGGTGCCGGCCTGCCGGCCAGGGCCTTCCAGTCTCCCCATCAAGGCTGGATGGCCACTTCCCACCCGGGGCGGGCTCCAGCCTCATTCCCCAGCGGTGCTGTCCTTCCAAGGAGCTCTCAGATCACCTGGCTGTCCACTCGTTTGGGGCTTCTCTGCTGCCTCCGCAGCACTGCGAGGCCTCTGATCACCTACTCTCTGTGCTGGGTGCATTTCGGGTTCTGTCCTGCCTTGACCTCCCTGCCAGCTTTGCAGGGCAGCCACCCTGGCACATAGCTCACTGCAGAACCAGCCCCTGAGAAGGTGGAGGCCACATGGCTAGCCAGAGGGCACGCTCTAGGGCACTGCTCTGACCACAGAATGTGGGTGCAGATGGTGTCTGGGAAAATAGTGGTGTCCCCGCTAGGTTAAAGACATGGCATAATGGTTCCTGGGGGATGACAAAAAAACCCACCCCCACCCCCTTGCAGAAAGCATCACAGAGGCACAAGCCCTGTGCCCTGCAAGCCCCTCCTGGAAGTGGCCCAGCAGGGGCATCCCCTGCACACCCAGGCAAAGCCCAAGCCCTCTGCCTCCTCAACCACCCCAGGCCCTGCCCATGAGCCAGCCTTGCTGAACTCTGCCCTCTGTCCAGTTCTCCTCCAGACACAGTAGACATAGCCCCCAGCCTTTCTTGACCCTTAACCCAAATGTCCCCAAGCCTGGCCTCAAGAAGCCAAAGGCTGCCGCAAACCCAAATATTTCAGGTCCGGGTCCCTGGTGCAGACCCTGCCATGCGGGGATGTGGCACAGAAGGCCGGCCAGCCTGGGGAGCAGAGAAGGAGGAGAGGAGAGCTCCTGGCCCTGAGCCTGAATGCCTGTGGACACATATAGGGACTCCCAGCACGCACGGGATGGACTCCAATCGGCACACATGCACATTCCTTGCACACACACAGGCGCGACCGAGGGCCTTGCAGACATAGGGTGCACACGTGCGTGCCGCCTGCATACAGCATGCACTTGCAGAGACGGTTGGCACCTTCCCTTCTCTGGCCCCAAACCTGGGCCCTGAGGCTGTCTGCACACCTGGGTGCTTCCCACCACTGACTCTCTCGTCTGCCTTTGTCCCCGCAGGTGACGCAGCTGGACCAGAGGCTGGCACTCATCACCGACATGCTTCACCAGCTGCTCTCCTTGCACGGTGGCAGCACCCCCGGCAGCGGCGGCCCCCCAGAGAGGGCGGGGCCCACATCACCCAGCCCTGCGGCAGTGGCGGCTCCGTCGACCCTGAGCTCTTCCTGCCCAGCAACACCCTGCCCACCTACGAGCAGCTGACCGTGCCCAGGAGGGGCCCCGATGAGGGGTCCTGAGGAGGGGATGGGGCTGGGGGATGGGCCTGAGTGAGAGGGGAGGCCAAGAGTGGCCCCACCTGGCCCTCTCTGAAGGAGGCCACCTCCTAAAAGGCCCAGAGAGAAGAGCCCCACTCTCAGAGGCCCCAATACCCCATGGACCATGCTGTCTGGCACAGCCTGCACTTGGGGGCTCAGCAAGGCCACCTCTTCCTGGCCGGTGTGGGGGCCCCGTCTCAGGTCTGAGTTGTTACCCCAAGCGCCCTGGCCCCCACATGGTGATGTTGACATCACTGGCATGGTGGTTGGGACCCAGTGGCAGGGCACAGGGCCTGGCCCATGTATGGCCAGGAAGTAGCACAGGCTGAGTGCAGGCCCACCCTGCTTGGCCCAGGGGGCTTCCTGAGGGGAGACAGAGCAACCCCTGGACCCCAGCCTCAAATCCAGGACCCTGCCAGGCACAGGCAGGGCAGGACCAGCCCACGCTGACTACAGGGCCGCCGGCAATAAAAGCCCAGGAGCCCATTTGGAGGGCCTGGGCCTGGCTCCCTCACTCTCAGGAAATGCTGACCCATGGGCAGGAGACTGTGGAGACTGCTCCTGAGCCCCCAGCTTCCAGCAGGAGGGACAGTCTCACCATTTCCCCAGGGCACGTGGTTGAGTGGGGGGAACGCCCACTTCCCTGGGTTAGACTGCCAGCTCTTCCTAGCTGGAGAGGAGCCCTGCCTCTCCGCCCCTGAGCCCACTGTGCGTGGGGCTCCCGCCTCCAACCCCTCGCCCAGTCCCAGCAGCCAGCCAAACACACAGAAGGGGACTGCCACCTCCCCTTGCCAGCTGCTGAGCCGCAGAGAAGTGACGGTTCCTACACAGGACAGGGGTTCCTTCTGGGCATTACATCGCATAGAAATCAATAATTTGTGGTGATTTGGATCTGTGTTTTAATGAGTTTCACAGTGTGATTTTGATTATTAATTGTGCAAGCTTTTCCTAATAAACGTGGAGAATCACAGGCTGGGCTGGGCACTGCTCTCACCTTGGTTCCTGGGGCATCCATGGGGTCTCTCACAGACAGGACCCCTGCAGTTCCCCTGGAAGCAGTGCCCAGGTGGCTGTGGAATAGGAACGCTATGTCCGTGTACTGAGGAGTAGGTCAGGGTTCAGAGGGGCTGCAAGATGCCATCGAAGGCTCTAGCTTAGCGACGTCGCTCCTGTTCTGGGCCCTGGGCTGGCCCTGGCCATGAAGTGCAGTCACAGTGTGGTCACTGCCTGTCTTCCAGCAGACTCTATGCCCTTGCGGCAGATGGGCTCTGTCTGGGCCTCTCTGTCTGCCCCTCCCAGGCCAGGGTGGCCCTTCATCAAGGACCCACATGCTCCACTCTGGGAGCAGGCCCCACCCAGGCCCATTCCCCAGGATGCCAAGGGCTAAACTCTGGAGGGGTTGTGGTGCAAGGAAGGCCTGGGGCCCCTGAGGCTCCCATATGCTCACCCCTGGCCTCCTCCGGGCCTCTATTTCCCCATTGGTAACACGATGCTCCCTTAGCCTGTCCAGTTCTCTGAGTGGGACAGAGGGGCCACCACCCTGCTCGCCCTGACCCTGTTCCTGCAGCTTTCTGTGAGGCCCGCCTCTCCTAAGGTGGAAAGAGTGCCTCACTCTCGGCACAGACACACTCAACCGGGGCAGGTGCATCTGCTGTGCCCCCACCTCAGCTATTGGACCGTTTCTCAGTCCTTCAGGACTGCAGCCGCCTTCTGTCCTCTTTCCAGAGCCCATCCCGAAGTCTCAGGATATGAGGGCTTGGGGCATCTGAGATATCAAGGATGGGGCTGTCCTGAGTCCACTGGGGGCAGGAGGCGGCCAGCAGCAGGTGGCAGGGACAGGGGCCCCAGGTTTCTGTGTGGAGTAGGGGTGGAAGCCCTTGTTAGN
pathogenic
171,002
Gene mutation in KCNQ1 at chromosome 11, position 2847862—is it benign or pathogenic? If pathogenic, specify the disease(s).
pathogenic; ['Atrial_fibrillation,_familial,_3', 'Beckwith-Wiedemann_syndrome', 'Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Jervell_and_Lange-Nielsen_syndrome_1', 'KCNQ1-related_disorder', 'Long_QT_syndrome', 'Long_QT_syndrome_1', 'Short_QT_syndrome_type_2']
CTCTAGACAGACGCTCGGCCCCACTCAGGCAGGCGCCCCCCTCTCATCTCAGCCTCTCACAGCACCCTGTTGGCCGCCTCTTCCTTAGCCTGCTCAGCCTCCGTGGTAGGTGCTGTGGGTGACGACCACAGCACCCAGCCTTTGAAGCTGGCCCGGGTCCACCCAGACCCTAGCAAACTGGTTGCTCCCTCTCTGGCCATCCCGGGGCTTGTGCCCACGTCACCCAGCAGCATCTTCCCTGGGGTTGTCTCACCCGCACAGAACCCAGCCCTGGCCCACACCTCACCCCAAGCCTATCCGGCTGGATCAGCAGTGGGGCCGGGCGCATGAGGGACCAGGCCCGCCCGGCGCAGCCTAGGGTGCAGACCCCTGGAGTGCACGGCCAGGTGGACCGGGCCAGCTCCCGCCTGCTGCCTGTGCTTAGGGCCAGTGGTTGACGTTGCTGTGGCTGAGTCATCTTCGTGCCTCTCTCTGGAGCCATACGTTTCCCTGAAGCAGCTCTGCTGTTCAGCCCTTATCGCGTGCTGATCTGTTTGCCCCTCCCCCACCACTTCTAGGTCTTTCCAGGCCTCCAGGTACCCACGGTGGGGGAGGGTCTACTTCATTCTCCACAGAGCACGCTGAGGGGCTCTCCTGCAAGAACACCGCAGGCTGAAGGACCAGCCCTGTCTCCTGTGGCCACCAACAGAGCTGTGCGCCCTCCCCGAACCCTCACTCATGCTAGGGCCCCCAGGTCCAACCTCCTAGGGAGAGGGGTCCCCAACCTGGACTCCCTCACCTGCCCTAGTCTGCCCCTGGGGTTGGCCCTGCTCCACCCAGCACCTGCTCTGAGGGTGCCAGGGTGCCGGCCTGCCGGCCAGGGCCTTCCAGTCTCCCCATCAAGGCTGGATGGCCACTTCCCACCCGGGGCGGGCTCCAGCCTCATTCCCCAGCGGTGCTGTCCTTCCAAGGAGCTCTCAGATCACCTGGCTGTCCACTCGTTTGGGGCTTCTCTGCTGCCTCCGCAGCACTGCGAGGCCTCTGATCACCTACTCTCTGTGCTGGGTGCATTTCGGGTTCTGTCCTGCCTTGACCTCCCTGCCAGCTTTGCAGGGCAGCCACCCTGGCACATAGCTCACTGCAGAACCAGCCCCTGAGAAGGTGGAGGCCACATGGCTAGCCAGAGGGCACGCTCTAGGGCACTGCTCTGACCACAGAATGTGGGTGCAGATGGTGTCTGGGAAAATAGTGGTGTCCCCGCTAGGTTAAAGACATGGCATAATGGTTCCTGGGGGATGACAAAAAAACCCACCCCCACCCCCTTGCAGAAAGCATCACAGAGGCACAAGCCCTGTGCCCTGCAAGCCCCTCCTGGAAGTGGCCCAGCAGGGGCATCCCCTGCACACCCAGGCAAAGCCCAAGCCCTCTGCCTCCTCAACCACCCCAGGCCCTGCCCATGAGCCAGCCTTGCTGAACTCTGCCCTCTGTCCAGTTCTCCTCCAGACACAGTAGACATAGCCCCCAGCCTTTCTTGACCCTTAACCCAAATGTCCCCAAGCCTGGCCTCAAGAAGCCAAAGGCTGCCGCAAACCCAAATATTTCAGGTCCGGGTCCCTGGTGCAGACCCTGCCATGCGGGGATGTGGCACAGAAGGCCGGCCAGCCTGGGGAGCAGAGAAGGAGGAGAGGAGAGCTCCTGGCCCTGAGCCTGAATGCCTGTGGACACATATAGGGACTCCCAGCACGCACGGGATGGACTCCAATCGGCACACATGCACATTCCTTGCACACACACAGGCGCGACCGAGGGCCTTGCAGACATAGGGTGCACACGTGCGTGCCGCCTGCATACAGCATGCACTTGCAGAGACGGTTGGCACCTTCCCTTCTCTGGCCCCAAACCTGGGCCCTGAGGCTGTCTGCACACCTGGGTGCTTCCCACCACTGACTCTCTCGTCTGCCTTTGTCCCCGCAGGTGACGCAGCTGGACCAGAGGCTGGCACTCATCACCGACATGCTTCACCAGCTGCTCTCCTTGCACGGTGGCAGCACCCCCGGCAGCGGCGGCCCCCCCAGAGAGGGCGGGGCCCACATCACCCAGCCCTGCGGCAGTGGCGGCTCCGTCGACCCTGAGCTCTTCCTGCCCAGCAACACCCTGCCCACCTACGAGCAGCTGACCGTGCCCAGGAGGGGCCCCGATGAGGGGTCCTGAGGAGGGGATGGGGCTGGGGGATGGGCCTGAGTGAGAGGGGAGGCCAAGAGTGGCCCCACCTGGCCCTCTCTGAAGGAGGCCACCTCCTAAAAGGCCCAGAGAGAAGAGCCCCACTCTCAGAGGCCCCAATACCCCATGGACCATGCTGTCTGGCACAGCCTGCACTTGGGGGCTCAGCAAGGCCACCTCTTCCTGGCCGGTGTGGGGGCCCCGTCTCAGGTCTGAGTTGTTACCCCAAGCGCCCTGGCCCCCACATGGTGATGTTGACATCACTGGCATGGTGGTTGGGACCCAGTGGCAGGGCACAGGGCCTGGCCCATGTATGGCCAGGAAGTAGCACAGGCTGAGTGCAGGCCCACCCTGCTTGGCCCAGGGGGCTTCCTGAGGGGAGACAGAGCAACCCCTGGACCCCAGCCTCAAATCCAGGACCCTGCCAGGCACAGGCAGGGCAGGACCAGCCCACGCTGACTACAGGGCCGCCGGCAATAAAAGCCCAGGAGCCCATTTGGAGGGCCTGGGCCTGGCTCCCTCACTCTCAGGAAATGCTGACCCATGGGCAGGAGACTGTGGAGACTGCTCCTGAGCCCCCAGCTTCCAGCAGGAGGGACAGTCTCACCATTTCCCCAGGGCACGTGGTTGAGTGGGGGGAACGCCCACTTCCCTGGGTTAGACTGCCAGCTCTTCCTAGCTGGAGAGGAGCCCTGCCTCTCCGCCCCTGAGCCCACTGTGCGTGGGGCTCCCGCCTCCAACCCCTCGCCCAGTCCCAGCAGCCAGCCAAACACACAGAAGGGGACTGCCACCTCCCCTTGCCAGCTGCTGAGCCGCAGAGAAGTGACGGTTCCTACACAGGACAGGGGTTCCTTCTGGGCATTACATCGCATAGAAATCAATAATTTGTGGTGATTTGGATCTGTGTTTTAATGAGTTTCACAGTGTGATTTTGATTATTAATTGTGCAAGCTTTTCCTAATAAACGTGGAGAATCACAGGCTGGGCTGGGCACTGCTCTCACCTTGGTTCCTGGGGCATCCATGGGGTCTCTCACAGACAGGACCCCTGCAGTTCCCCTGGAAGCAGTGCCCAGGTGGCTGTGGAATAGGAACGCTATGTCCGTGTACTGAGGAGTAGGTCAGGGTTCAGAGGGGCTGCAAGATGCCATCGAAGGCTCTAGCTTAGCGACGTCGCTCCTGTTCTGGGCCCTGGGCTGGCCCTGGCCATGAAGTGCAGTCACAGTGTGGTCACTGCCTGTCTTCCAGCAGACTCTATGCCCTTGCGGCAGATGGGCTCTGTCTGGGCCTCTCTGTCTGCCCCTCCCAGGCCAGGGTGGCCCTTCATCAAGGACCCACATGCTCCACTCTGGGAGCAGGCCCCACCCAGGCCCATTCCCCAGGATGCCAAGGGCTAAACTCTGGAGGGGTTGTGGTGCAAGGAAGGCCTGGGGCCCCTGAGGCTCCCATATGCTCACCCCTGGCCTCCTCCGGGCCTCTATTTCCCCATTGGTAACACGATGCTCCCTTAGCCTGTCCAGTTCTCTGAGTGGGACAGAGGGGCCACCACCCTGCTCGCCCTGACCCTGTTCCTGCAGCTTTCTGTGAGGCCCGCCTCTCCTAAGGTGGAAAGAGTGCCTCACTCTCGGCACAGACACACTCAACCGGGGCAGGTGCATCTGCTGTGCCCCCACCTCAGCTATTGGACCGTTTCTCAGTCCTTCAGGACTGCAGCCGCCTTCTGTCCTCTTTCCAGAGCCCATCCCGAAGTCTCAGGATATGAGGGCTTGGGGCATCTGAGATATCAAGGATGGGGCTGTCCTGAGTCCACTGGGGGCAGGAGGCGGCCAGCAGCAGGTGGCAGGGACAGGGGCCCCAGGTTTCTGTGTGGAGTAGGGGTGGAAGCCCTTGTTAGAGGG
CTCTAGACAGACGCTCGGCCCCACTCAGGCAGGCGCCCCCCTCTCATCTCAGCCTCTCACAGCACCCTGTTGGCCGCCTCTTCCTTAGCCTGCTCAGCCTCCGTGGTAGGTGCTGTGGGTGACGACCACAGCACCCAGCCTTTGAAGCTGGCCCGGGTCCACCCAGACCCTAGCAAACTGGTTGCTCCCTCTCTGGCCATCCCGGGGCTTGTGCCCACGTCACCCAGCAGCATCTTCCCTGGGGTTGTCTCACCCGCACAGAACCCAGCCCTGGCCCACACCTCACCCCAAGCCTATCCGGCTGGATCAGCAGTGGGGCCGGGCGCATGAGGGACCAGGCCCGCCCGGCGCAGCCTAGGGTGCAGACCCCTGGAGTGCACGGCCAGGTGGACCGGGCCAGCTCCCGCCTGCTGCCTGTGCTTAGGGCCAGTGGTTGACGTTGCTGTGGCTGAGTCATCTTCGTGCCTCTCTCTGGAGCCATACGTTTCCCTGAAGCAGCTCTGCTGTTCAGCCCTTATCGCGTGCTGATCTGTTTGCCCCTCCCCCACCACTTCTAGGTCTTTCCAGGCCTCCAGGTACCCACGGTGGGGGAGGGTCTACTTCATTCTCCACAGAGCACGCTGAGGGGCTCTCCTGCAAGAACACCGCAGGCTGAAGGACCAGCCCTGTCTCCTGTGGCCACCAACAGAGCTGTGCGCCCTCCCCGAACCCTCACTCATGCTAGGGCCCCCAGGTCCAACCTCCTAGGGAGAGGGGTCCCCAACCTGGACTCCCTCACCTGCCCTAGTCTGCCCCTGGGGTTGGCCCTGCTCCACCCAGCACCTGCTCTGAGGGTGCCAGGGTGCCGGCCTGCCGGCCAGGGCCTTCCAGTCTCCCCATCAAGGCTGGATGGCCACTTCCCACCCGGGGCGGGCTCCAGCCTCATTCCCCAGCGGTGCTGTCCTTCCAAGGAGCTCTCAGATCACCTGGCTGTCCACTCGTTTGGGGCTTCTCTGCTGCCTCCGCAGCACTGCGAGGCCTCTGATCACCTACTCTCTGTGCTGGGTGCATTTCGGGTTCTGTCCTGCCTTGACCTCCCTGCCAGCTTTGCAGGGCAGCCACCCTGGCACATAGCTCACTGCAGAACCAGCCCCTGAGAAGGTGGAGGCCACATGGCTAGCCAGAGGGCACGCTCTAGGGCACTGCTCTGACCACAGAATGTGGGTGCAGATGGTGTCTGGGAAAATAGTGGTGTCCCCGCTAGGTTAAAGACATGGCATAATGGTTCCTGGGGGATGACAAAAAAACCCACCCCCACCCCCTTGCAGAAAGCATCACAGAGGCACAAGCCCTGTGCCCTGCAAGCCCCTCCTGGAAGTGGCCCAGCAGGGGCATCCCCTGCACACCCAGGCAAAGCCCAAGCCCTCTGCCTCCTCAACCACCCCAGGCCCTGCCCATGAGCCAGCCTTGCTGAACTCTGCCCTCTGTCCAGTTCTCCTCCAGACACAGTAGACATAGCCCCCAGCCTTTCTTGACCCTTAACCCAAATGTCCCCAAGCCTGGCCTCAAGAAGCCAAAGGCTGCCGCAAACCCAAATATTTCAGGTCCGGGTCCCTGGTGCAGACCCTGCCATGCGGGGATGTGGCACAGAAGGCCGGCCAGCCTGGGGAGCAGAGAAGGAGGAGAGGAGAGCTCCTGGCCCTGAGCCTGAATGCCTGTGGACACATATAGGGACTCCCAGCACGCACGGGATGGACTCCAATCGGCACACATGCACATTCCTTGCACACACACAGGCGCGACCGAGGGCCTTGCAGACATAGGGTGCACACGTGCGTGCCGCCTGCATACAGCATGCACTTGCAGAGACGGTTGGCACCTTCCCTTCTCTGGCCCCAAACCTGGGCCCTGAGGCTGTCTGCACACCTGGGTGCTTCCCACCACTGACTCTCTCGTCTGCCTTTGTCCCCGCAGGTGACGCAGCTGGACCAGAGGCTGGCACTCATCACCGACATGCTTCACCAGCTGCTCTCCTTGCACGGTGGCAGCACCCCCGGCAGCGGCGGCCCCCATCACCCAGCCCTGCGGCAGTGGCGGCTCCGTCGACCCTGAGCTCTTCCTGCCCAGCAACACCCTGCCCACCTACGAGCAGCTGACCGTGCCCAGGAGGGGCCCCGATGAGGGGTCCTGAGGAGGGGATGGGGCTGGGGGATGGGCCTGAGTGAGAGGGGAGGCCAAGAGTGGCCCCACCTGGCCCTCTCTGAAGGAGGCCACCTCCTAAAAGGCCCAGAGAGAAGAGCCCCACTCTCAGAGGCCCCAATACCCCATGGACCATGCTGTCTGGCACAGCCTGCACTTGGGGGCTCAGCAAGGCCACCTCTTCCTGGCCGGTGTGGGGGCCCCGTCTCAGGTCTGAGTTGTTACCCCAAGCGCCCTGGCCCCCACATGGTGATGTTGACATCACTGGCATGGTGGTTGGGACCCAGTGGCAGGGCACAGGGCCTGGCCCATGTATGGCCAGGAAGTAGCACAGGCTGAGTGCAGGCCCACCCTGCTTGGCCCAGGGGGCTTCCTGAGGGGAGACAGAGCAACCCCTGGACCCCAGCCTCAAATCCAGGACCCTGCCAGGCACAGGCAGGGCAGGACCAGCCCACGCTGACTACAGGGCCGCCGGCAATAAAAGCCCAGGAGCCCATTTGGAGGGCCTGGGCCTGGCTCCCTCACTCTCAGGAAATGCTGACCCATGGGCAGGAGACTGTGGAGACTGCTCCTGAGCCCCCAGCTTCCAGCAGGAGGGACAGTCTCACCATTTCCCCAGGGCACGTGGTTGAGTGGGGGGAACGCCCACTTCCCTGGGTTAGACTGCCAGCTCTTCCTAGCTGGAGAGGAGCCCTGCCTCTCCGCCCCTGAGCCCACTGTGCGTGGGGCTCCCGCCTCCAACCCCTCGCCCAGTCCCAGCAGCCAGCCAAACACACAGAAGGGGACTGCCACCTCCCCTTGCCAGCTGCTGAGCCGCAGAGAAGTGACGGTTCCTACACAGGACAGGGGTTCCTTCTGGGCATTACATCGCATAGAAATCAATAATTTGTGGTGATTTGGATCTGTGTTTTAATGAGTTTCACAGTGTGATTTTGATTATTAATTGTGCAAGCTTTTCCTAATAAACGTGGAGAATCACAGGCTGGGCTGGGCACTGCTCTCACCTTGGTTCCTGGGGCATCCATGGGGTCTCTCACAGACAGGACCCCTGCAGTTCCCCTGGAAGCAGTGCCCAGGTGGCTGTGGAATAGGAACGCTATGTCCGTGTACTGAGGAGTAGGTCAGGGTTCAGAGGGGCTGCAAGATGCCATCGAAGGCTCTAGCTTAGCGACGTCGCTCCTGTTCTGGGCCCTGGGCTGGCCCTGGCCATGAAGTGCAGTCACAGTGTGGTCACTGCCTGTCTTCCAGCAGACTCTATGCCCTTGCGGCAGATGGGCTCTGTCTGGGCCTCTCTGTCTGCCCCTCCCAGGCCAGGGTGGCCCTTCATCAAGGACCCACATGCTCCACTCTGGGAGCAGGCCCCACCCAGGCCCATTCCCCAGGATGCCAAGGGCTAAACTCTGGAGGGGTTGTGGTGCAAGGAAGGCCTGGGGCCCCTGAGGCTCCCATATGCTCACCCCTGGCCTCCTCCGGGCCTCTATTTCCCCATTGGTAACACGATGCTCCCTTAGCCTGTCCAGTTCTCTGAGTGGGACAGAGGGGCCACCACCCTGCTCGCCCTGACCCTGTTCCTGCAGCTTTCTGTGAGGCCCGCCTCTCCTAAGGTGGAAAGAGTGCCTCACTCTCGGCACAGACACACTCAACCGGGGCAGGTGCATCTGCTGTGCCCCCACCTCAGCTATTGGACCGTTTCTCAGTCCTTCAGGACTGCAGCCGCCTTCTGTCCTCTTTCCAGAGCCCATCCCGAAGTCTCAGGATATGAGGGCTTGGGGCATCTGAGATATCAAGGATGGGGCTGTCCTGAGTCCACTGGGGGCAGGAGGCGGCCAGCAGCAGGTGGCAGGGACAGGGGCCCCAGGTTTCTGTGTGGAGTAGGGGTGGAAGCCCTTGTTAGAGGGNNNNNNNNNNNNNNNNNNNN
pathogenic
171,004
The genetic variant at chromosome 11, position 2847865, affecting gene KCNQ1: benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Long_QT_syndrome']
TAGACAGACGCTCGGCCCCACTCAGGCAGGCGCCCCCCTCTCATCTCAGCCTCTCACAGCACCCTGTTGGCCGCCTCTTCCTTAGCCTGCTCAGCCTCCGTGGTAGGTGCTGTGGGTGACGACCACAGCACCCAGCCTTTGAAGCTGGCCCGGGTCCACCCAGACCCTAGCAAACTGGTTGCTCCCTCTCTGGCCATCCCGGGGCTTGTGCCCACGTCACCCAGCAGCATCTTCCCTGGGGTTGTCTCACCCGCACAGAACCCAGCCCTGGCCCACACCTCACCCCAAGCCTATCCGGCTGGATCAGCAGTGGGGCCGGGCGCATGAGGGACCAGGCCCGCCCGGCGCAGCCTAGGGTGCAGACCCCTGGAGTGCACGGCCAGGTGGACCGGGCCAGCTCCCGCCTGCTGCCTGTGCTTAGGGCCAGTGGTTGACGTTGCTGTGGCTGAGTCATCTTCGTGCCTCTCTCTGGAGCCATACGTTTCCCTGAAGCAGCTCTGCTGTTCAGCCCTTATCGCGTGCTGATCTGTTTGCCCCTCCCCCACCACTTCTAGGTCTTTCCAGGCCTCCAGGTACCCACGGTGGGGGAGGGTCTACTTCATTCTCCACAGAGCACGCTGAGGGGCTCTCCTGCAAGAACACCGCAGGCTGAAGGACCAGCCCTGTCTCCTGTGGCCACCAACAGAGCTGTGCGCCCTCCCCGAACCCTCACTCATGCTAGGGCCCCCAGGTCCAACCTCCTAGGGAGAGGGGTCCCCAACCTGGACTCCCTCACCTGCCCTAGTCTGCCCCTGGGGTTGGCCCTGCTCCACCCAGCACCTGCTCTGAGGGTGCCAGGGTGCCGGCCTGCCGGCCAGGGCCTTCCAGTCTCCCCATCAAGGCTGGATGGCCACTTCCCACCCGGGGCGGGCTCCAGCCTCATTCCCCAGCGGTGCTGTCCTTCCAAGGAGCTCTCAGATCACCTGGCTGTCCACTCGTTTGGGGCTTCTCTGCTGCCTCCGCAGCACTGCGAGGCCTCTGATCACCTACTCTCTGTGCTGGGTGCATTTCGGGTTCTGTCCTGCCTTGACCTCCCTGCCAGCTTTGCAGGGCAGCCACCCTGGCACATAGCTCACTGCAGAACCAGCCCCTGAGAAGGTGGAGGCCACATGGCTAGCCAGAGGGCACGCTCTAGGGCACTGCTCTGACCACAGAATGTGGGTGCAGATGGTGTCTGGGAAAATAGTGGTGTCCCCGCTAGGTTAAAGACATGGCATAATGGTTCCTGGGGGATGACAAAAAAACCCACCCCCACCCCCTTGCAGAAAGCATCACAGAGGCACAAGCCCTGTGCCCTGCAAGCCCCTCCTGGAAGTGGCCCAGCAGGGGCATCCCCTGCACACCCAGGCAAAGCCCAAGCCCTCTGCCTCCTCAACCACCCCAGGCCCTGCCCATGAGCCAGCCTTGCTGAACTCTGCCCTCTGTCCAGTTCTCCTCCAGACACAGTAGACATAGCCCCCAGCCTTTCTTGACCCTTAACCCAAATGTCCCCAAGCCTGGCCTCAAGAAGCCAAAGGCTGCCGCAAACCCAAATATTTCAGGTCCGGGTCCCTGGTGCAGACCCTGCCATGCGGGGATGTGGCACAGAAGGCCGGCCAGCCTGGGGAGCAGAGAAGGAGGAGAGGAGAGCTCCTGGCCCTGAGCCTGAATGCCTGTGGACACATATAGGGACTCCCAGCACGCACGGGATGGACTCCAATCGGCACACATGCACATTCCTTGCACACACACAGGCGCGACCGAGGGCCTTGCAGACATAGGGTGCACACGTGCGTGCCGCCTGCATACAGCATGCACTTGCAGAGACGGTTGGCACCTTCCCTTCTCTGGCCCCAAACCTGGGCCCTGAGGCTGTCTGCACACCTGGGTGCTTCCCACCACTGACTCTCTCGTCTGCCTTTGTCCCCGCAGGTGACGCAGCTGGACCAGAGGCTGGCACTCATCACCGACATGCTTCACCAGCTGCTCTCCTTGCACGGTGGCAGCACCCCCGGCAGCGGCGGCCCCCCCAGAGAGGGCGGGGCCCACATCACCCAGCCCTGCGGCAGTGGCGGCTCCGTCGACCCTGAGCTCTTCCTGCCCAGCAACACCCTGCCCACCTACGAGCAGCTGACCGTGCCCAGGAGGGGCCCCGATGAGGGGTCCTGAGGAGGGGATGGGGCTGGGGGATGGGCCTGAGTGAGAGGGGAGGCCAAGAGTGGCCCCACCTGGCCCTCTCTGAAGGAGGCCACCTCCTAAAAGGCCCAGAGAGAAGAGCCCCACTCTCAGAGGCCCCAATACCCCATGGACCATGCTGTCTGGCACAGCCTGCACTTGGGGGCTCAGCAAGGCCACCTCTTCCTGGCCGGTGTGGGGGCCCCGTCTCAGGTCTGAGTTGTTACCCCAAGCGCCCTGGCCCCCACATGGTGATGTTGACATCACTGGCATGGTGGTTGGGACCCAGTGGCAGGGCACAGGGCCTGGCCCATGTATGGCCAGGAAGTAGCACAGGCTGAGTGCAGGCCCACCCTGCTTGGCCCAGGGGGCTTCCTGAGGGGAGACAGAGCAACCCCTGGACCCCAGCCTCAAATCCAGGACCCTGCCAGGCACAGGCAGGGCAGGACCAGCCCACGCTGACTACAGGGCCGCCGGCAATAAAAGCCCAGGAGCCCATTTGGAGGGCCTGGGCCTGGCTCCCTCACTCTCAGGAAATGCTGACCCATGGGCAGGAGACTGTGGAGACTGCTCCTGAGCCCCCAGCTTCCAGCAGGAGGGACAGTCTCACCATTTCCCCAGGGCACGTGGTTGAGTGGGGGGAACGCCCACTTCCCTGGGTTAGACTGCCAGCTCTTCCTAGCTGGAGAGGAGCCCTGCCTCTCCGCCCCTGAGCCCACTGTGCGTGGGGCTCCCGCCTCCAACCCCTCGCCCAGTCCCAGCAGCCAGCCAAACACACAGAAGGGGACTGCCACCTCCCCTTGCCAGCTGCTGAGCCGCAGAGAAGTGACGGTTCCTACACAGGACAGGGGTTCCTTCTGGGCATTACATCGCATAGAAATCAATAATTTGTGGTGATTTGGATCTGTGTTTTAATGAGTTTCACAGTGTGATTTTGATTATTAATTGTGCAAGCTTTTCCTAATAAACGTGGAGAATCACAGGCTGGGCTGGGCACTGCTCTCACCTTGGTTCCTGGGGCATCCATGGGGTCTCTCACAGACAGGACCCCTGCAGTTCCCCTGGAAGCAGTGCCCAGGTGGCTGTGGAATAGGAACGCTATGTCCGTGTACTGAGGAGTAGGTCAGGGTTCAGAGGGGCTGCAAGATGCCATCGAAGGCTCTAGCTTAGCGACGTCGCTCCTGTTCTGGGCCCTGGGCTGGCCCTGGCCATGAAGTGCAGTCACAGTGTGGTCACTGCCTGTCTTCCAGCAGACTCTATGCCCTTGCGGCAGATGGGCTCTGTCTGGGCCTCTCTGTCTGCCCCTCCCAGGCCAGGGTGGCCCTTCATCAAGGACCCACATGCTCCACTCTGGGAGCAGGCCCCACCCAGGCCCATTCCCCAGGATGCCAAGGGCTAAACTCTGGAGGGGTTGTGGTGCAAGGAAGGCCTGGGGCCCCTGAGGCTCCCATATGCTCACCCCTGGCCTCCTCCGGGCCTCTATTTCCCCATTGGTAACACGATGCTCCCTTAGCCTGTCCAGTTCTCTGAGTGGGACAGAGGGGCCACCACCCTGCTCGCCCTGACCCTGTTCCTGCAGCTTTCTGTGAGGCCCGCCTCTCCTAAGGTGGAAAGAGTGCCTCACTCTCGGCACAGACACACTCAACCGGGGCAGGTGCATCTGCTGTGCCCCCACCTCAGCTATTGGACCGTTTCTCAGTCCTTCAGGACTGCAGCCGCCTTCTGTCCTCTTTCCAGAGCCCATCCCGAAGTCTCAGGATATGAGGGCTTGGGGCATCTGAGATATCAAGGATGGGGCTGTCCTGAGTCCACTGGGGGCAGGAGGCGGCCAGCAGCAGGTGGCAGGGACAGGGGCCCCAGGTTTCTGTGTGGAGTAGGGGTGGAAGCCCTTGTTAGAGGGAAA
TAGACAGACGCTCGGCCCCACTCAGGCAGGCGCCCCCCTCTCATCTCAGCCTCTCACAGCACCCTGTTGGCCGCCTCTTCCTTAGCCTGCTCAGCCTCCGTGGTAGGTGCTGTGGGTGACGACCACAGCACCCAGCCTTTGAAGCTGGCCCGGGTCCACCCAGACCCTAGCAAACTGGTTGCTCCCTCTCTGGCCATCCCGGGGCTTGTGCCCACGTCACCCAGCAGCATCTTCCCTGGGGTTGTCTCACCCGCACAGAACCCAGCCCTGGCCCACACCTCACCCCAAGCCTATCCGGCTGGATCAGCAGTGGGGCCGGGCGCATGAGGGACCAGGCCCGCCCGGCGCAGCCTAGGGTGCAGACCCCTGGAGTGCACGGCCAGGTGGACCGGGCCAGCTCCCGCCTGCTGCCTGTGCTTAGGGCCAGTGGTTGACGTTGCTGTGGCTGAGTCATCTTCGTGCCTCTCTCTGGAGCCATACGTTTCCCTGAAGCAGCTCTGCTGTTCAGCCCTTATCGCGTGCTGATCTGTTTGCCCCTCCCCCACCACTTCTAGGTCTTTCCAGGCCTCCAGGTACCCACGGTGGGGGAGGGTCTACTTCATTCTCCACAGAGCACGCTGAGGGGCTCTCCTGCAAGAACACCGCAGGCTGAAGGACCAGCCCTGTCTCCTGTGGCCACCAACAGAGCTGTGCGCCCTCCCCGAACCCTCACTCATGCTAGGGCCCCCAGGTCCAACCTCCTAGGGAGAGGGGTCCCCAACCTGGACTCCCTCACCTGCCCTAGTCTGCCCCTGGGGTTGGCCCTGCTCCACCCAGCACCTGCTCTGAGGGTGCCAGGGTGCCGGCCTGCCGGCCAGGGCCTTCCAGTCTCCCCATCAAGGCTGGATGGCCACTTCCCACCCGGGGCGGGCTCCAGCCTCATTCCCCAGCGGTGCTGTCCTTCCAAGGAGCTCTCAGATCACCTGGCTGTCCACTCGTTTGGGGCTTCTCTGCTGCCTCCGCAGCACTGCGAGGCCTCTGATCACCTACTCTCTGTGCTGGGTGCATTTCGGGTTCTGTCCTGCCTTGACCTCCCTGCCAGCTTTGCAGGGCAGCCACCCTGGCACATAGCTCACTGCAGAACCAGCCCCTGAGAAGGTGGAGGCCACATGGCTAGCCAGAGGGCACGCTCTAGGGCACTGCTCTGACCACAGAATGTGGGTGCAGATGGTGTCTGGGAAAATAGTGGTGTCCCCGCTAGGTTAAAGACATGGCATAATGGTTCCTGGGGGATGACAAAAAAACCCACCCCCACCCCCTTGCAGAAAGCATCACAGAGGCACAAGCCCTGTGCCCTGCAAGCCCCTCCTGGAAGTGGCCCAGCAGGGGCATCCCCTGCACACCCAGGCAAAGCCCAAGCCCTCTGCCTCCTCAACCACCCCAGGCCCTGCCCATGAGCCAGCCTTGCTGAACTCTGCCCTCTGTCCAGTTCTCCTCCAGACACAGTAGACATAGCCCCCAGCCTTTCTTGACCCTTAACCCAAATGTCCCCAAGCCTGGCCTCAAGAAGCCAAAGGCTGCCGCAAACCCAAATATTTCAGGTCCGGGTCCCTGGTGCAGACCCTGCCATGCGGGGATGTGGCACAGAAGGCCGGCCAGCCTGGGGAGCAGAGAAGGAGGAGAGGAGAGCTCCTGGCCCTGAGCCTGAATGCCTGTGGACACATATAGGGACTCCCAGCACGCACGGGATGGACTCCAATCGGCACACATGCACATTCCTTGCACACACACAGGCGCGACCGAGGGCCTTGCAGACATAGGGTGCACACGTGCGTGCCGCCTGCATACAGCATGCACTTGCAGAGACGGTTGGCACCTTCCCTTCTCTGGCCCCAAACCTGGGCCCTGAGGCTGTCTGCACACCTGGGTGCTTCCCACCACTGACTCTCTCGTCTGCCTTTGTCCCCGCAGGTGACGCAGCTGGACCAGAGGCTGGCACTCATCACCGACATGCTTCACCAGCTGCTCTCCTTGCACGGTGGCAGCACCCCCGGCAGCGGCGGCCCCCCCAAGAGAGGGCGGGGCCCACATCACCCAGCCCTGCGGCAGTGGCGGCTCCGTCGACCCTGAGCTCTTCCTGCCCAGCAACACCCTGCCCACCTACGAGCAGCTGACCGTGCCCAGGAGGGGCCCCGATGAGGGGTCCTGAGGAGGGGATGGGGCTGGGGGATGGGCCTGAGTGAGAGGGGAGGCCAAGAGTGGCCCCACCTGGCCCTCTCTGAAGGAGGCCACCTCCTAAAAGGCCCAGAGAGAAGAGCCCCACTCTCAGAGGCCCCAATACCCCATGGACCATGCTGTCTGGCACAGCCTGCACTTGGGGGCTCAGCAAGGCCACCTCTTCCTGGCCGGTGTGGGGGCCCCGTCTCAGGTCTGAGTTGTTACCCCAAGCGCCCTGGCCCCCACATGGTGATGTTGACATCACTGGCATGGTGGTTGGGACCCAGTGGCAGGGCACAGGGCCTGGCCCATGTATGGCCAGGAAGTAGCACAGGCTGAGTGCAGGCCCACCCTGCTTGGCCCAGGGGGCTTCCTGAGGGGAGACAGAGCAACCCCTGGACCCCAGCCTCAAATCCAGGACCCTGCCAGGCACAGGCAGGGCAGGACCAGCCCACGCTGACTACAGGGCCGCCGGCAATAAAAGCCCAGGAGCCCATTTGGAGGGCCTGGGCCTGGCTCCCTCACTCTCAGGAAATGCTGACCCATGGGCAGGAGACTGTGGAGACTGCTCCTGAGCCCCCAGCTTCCAGCAGGAGGGACAGTCTCACCATTTCCCCAGGGCACGTGGTTGAGTGGGGGGAACGCCCACTTCCCTGGGTTAGACTGCCAGCTCTTCCTAGCTGGAGAGGAGCCCTGCCTCTCCGCCCCTGAGCCCACTGTGCGTGGGGCTCCCGCCTCCAACCCCTCGCCCAGTCCCAGCAGCCAGCCAAACACACAGAAGGGGACTGCCACCTCCCCTTGCCAGCTGCTGAGCCGCAGAGAAGTGACGGTTCCTACACAGGACAGGGGTTCCTTCTGGGCATTACATCGCATAGAAATCAATAATTTGTGGTGATTTGGATCTGTGTTTTAATGAGTTTCACAGTGTGATTTTGATTATTAATTGTGCAAGCTTTTCCTAATAAACGTGGAGAATCACAGGCTGGGCTGGGCACTGCTCTCACCTTGGTTCCTGGGGCATCCATGGGGTCTCTCACAGACAGGACCCCTGCAGTTCCCCTGGAAGCAGTGCCCAGGTGGCTGTGGAATAGGAACGCTATGTCCGTGTACTGAGGAGTAGGTCAGGGTTCAGAGGGGCTGCAAGATGCCATCGAAGGCTCTAGCTTAGCGACGTCGCTCCTGTTCTGGGCCCTGGGCTGGCCCTGGCCATGAAGTGCAGTCACAGTGTGGTCACTGCCTGTCTTCCAGCAGACTCTATGCCCTTGCGGCAGATGGGCTCTGTCTGGGCCTCTCTGTCTGCCCCTCCCAGGCCAGGGTGGCCCTTCATCAAGGACCCACATGCTCCACTCTGGGAGCAGGCCCCACCCAGGCCCATTCCCCAGGATGCCAAGGGCTAAACTCTGGAGGGGTTGTGGTGCAAGGAAGGCCTGGGGCCCCTGAGGCTCCCATATGCTCACCCCTGGCCTCCTCCGGGCCTCTATTTCCCCATTGGTAACACGATGCTCCCTTAGCCTGTCCAGTTCTCTGAGTGGGACAGAGGGGCCACCACCCTGCTCGCCCTGACCCTGTTCCTGCAGCTTTCTGTGAGGCCCGCCTCTCCTAAGGTGGAAAGAGTGCCTCACTCTCGGCACAGACACACTCAACCGGGGCAGGTGCATCTGCTGTGCCCCCACCTCAGCTATTGGACCGTTTCTCAGTCCTTCAGGACTGCAGCCGCCTTCTGTCCTCTTTCCAGAGCCCATCCCGAAGTCTCAGGATATGAGGGCTTGGGGCATCTGAGATATCAAGGATGGGGCTGTCCTGAGTCCACTGGGGGCAGGAGGCGGCCAGCAGCAGGTGGCAGGGACAGGGGCCCCAGGTTTCTGTGTGGAGTAGGGGTGGAAGCCCTTGTTAGAGGGAA
pathogenic
171,005
Is chromosome 11, position 2848375, gene KCNQ1 variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
benign
CTTATCGCGTGCTGATCTGTTTGCCCCTCCCCCACCACTTCTAGGTCTTTCCAGGCCTCCAGGTACCCACGGTGGGGGAGGGTCTACTTCATTCTCCACAGAGCACGCTGAGGGGCTCTCCTGCAAGAACACCGCAGGCTGAAGGACCAGCCCTGTCTCCTGTGGCCACCAACAGAGCTGTGCGCCCTCCCCGAACCCTCACTCATGCTAGGGCCCCCAGGTCCAACCTCCTAGGGAGAGGGGTCCCCAACCTGGACTCCCTCACCTGCCCTAGTCTGCCCCTGGGGTTGGCCCTGCTCCACCCAGCACCTGCTCTGAGGGTGCCAGGGTGCCGGCCTGCCGGCCAGGGCCTTCCAGTCTCCCCATCAAGGCTGGATGGCCACTTCCCACCCGGGGCGGGCTCCAGCCTCATTCCCCAGCGGTGCTGTCCTTCCAAGGAGCTCTCAGATCACCTGGCTGTCCACTCGTTTGGGGCTTCTCTGCTGCCTCCGCAGCACTGCGAGGCCTCTGATCACCTACTCTCTGTGCTGGGTGCATTTCGGGTTCTGTCCTGCCTTGACCTCCCTGCCAGCTTTGCAGGGCAGCCACCCTGGCACATAGCTCACTGCAGAACCAGCCCCTGAGAAGGTGGAGGCCACATGGCTAGCCAGAGGGCACGCTCTAGGGCACTGCTCTGACCACAGAATGTGGGTGCAGATGGTGTCTGGGAAAATAGTGGTGTCCCCGCTAGGTTAAAGACATGGCATAATGGTTCCTGGGGGATGACAAAAAAACCCACCCCCACCCCCTTGCAGAAAGCATCACAGAGGCACAAGCCCTGTGCCCTGCAAGCCCCTCCTGGAAGTGGCCCAGCAGGGGCATCCCCTGCACACCCAGGCAAAGCCCAAGCCCTCTGCCTCCTCAACCACCCCAGGCCCTGCCCATGAGCCAGCCTTGCTGAACTCTGCCCTCTGTCCAGTTCTCCTCCAGACACAGTAGACATAGCCCCCAGCCTTTCTTGACCCTTAACCCAAATGTCCCCAAGCCTGGCCTCAAGAAGCCAAAGGCTGCCGCAAACCCAAATATTTCAGGTCCGGGTCCCTGGTGCAGACCCTGCCATGCGGGGATGTGGCACAGAAGGCCGGCCAGCCTGGGGAGCAGAGAAGGAGGAGAGGAGAGCTCCTGGCCCTGAGCCTGAATGCCTGTGGACACATATAGGGACTCCCAGCACGCACGGGATGGACTCCAATCGGCACACATGCACATTCCTTGCACACACACAGGCGCGACCGAGGGCCTTGCAGACATAGGGTGCACACGTGCGTGCCGCCTGCATACAGCATGCACTTGCAGAGACGGTTGGCACCTTCCCTTCTCTGGCCCCAAACCTGGGCCCTGAGGCTGTCTGCACACCTGGGTGCTTCCCACCACTGACTCTCTCGTCTGCCTTTGTCCCCGCAGGTGACGCAGCTGGACCAGAGGCTGGCACTCATCACCGACATGCTTCACCAGCTGCTCTCCTTGCACGGTGGCAGCACCCCCGGCAGCGGCGGCCCCCCCAGAGAGGGCGGGGCCCACATCACCCAGCCCTGCGGCAGTGGCGGCTCCGTCGACCCTGAGCTCTTCCTGCCCAGCAACACCCTGCCCACCTACGAGCAGCTGACCGTGCCCAGGAGGGGCCCCGATGAGGGGTCCTGAGGAGGGGATGGGGCTGGGGGATGGGCCTGAGTGAGAGGGGAGGCCAAGAGTGGCCCCACCTGGCCCTCTCTGAAGGAGGCCACCTCCTAAAAGGCCCAGAGAGAAGAGCCCCACTCTCAGAGGCCCCAATACCCCATGGACCATGCTGTCTGGCACAGCCTGCACTTGGGGGCTCAGCAAGGCCACCTCTTCCTGGCCGGTGTGGGGGCCCCGTCTCAGGTCTGAGTTGTTACCCCAAGCGCCCTGGCCCCCACATGGTGATGTTGACATCACTGGCATGGTGGTTGGGACCCAGTGGCAGGGCACAGGGCCTGGCCCATGTATGGCCAGGAAGTAGCACAGGCTGAGTGCAGGCCCACCCTGCTTGGCCCAGGGGGCTTCCTGAGGGGAGACAGAGCAACCCCTGGACCCCAGCCTCAAATCCAGGACCCTGCCAGGCACAGGCAGGGCAGGACCAGCCCACGCTGACTACAGGGCCGCCGGCAATAAAAGCCCAGGAGCCCATTTGGAGGGCCTGGGCCTGGCTCCCTCACTCTCAGGAAATGCTGACCCATGGGCAGGAGACTGTGGAGACTGCTCCTGAGCCCCCAGCTTCCAGCAGGAGGGACAGTCTCACCATTTCCCCAGGGCACGTGGTTGAGTGGGGGGAACGCCCACTTCCCTGGGTTAGACTGCCAGCTCTTCCTAGCTGGAGAGGAGCCCTGCCTCTCCGCCCCTGAGCCCACTGTGCGTGGGGCTCCCGCCTCCAACCCCTCGCCCAGTCCCAGCAGCCAGCCAAACACACAGAAGGGGACTGCCACCTCCCCTTGCCAGCTGCTGAGCCGCAGAGAAGTGACGGTTCCTACACAGGACAGGGGTTCCTTCTGGGCATTACATCGCATAGAAATCAATAATTTGTGGTGATTTGGATCTGTGTTTTAATGAGTTTCACAGTGTGATTTTGATTATTAATTGTGCAAGCTTTTCCTAATAAACGTGGAGAATCACAGGCTGGGCTGGGCACTGCTCTCACCTTGGTTCCTGGGGCATCCATGGGGTCTCTCACAGACAGGACCCCTGCAGTTCCCCTGGAAGCAGTGCCCAGGTGGCTGTGGAATAGGAACGCTATGTCCGTGTACTGAGGAGTAGGTCAGGGTTCAGAGGGGCTGCAAGATGCCATCGAAGGCTCTAGCTTAGCGACGTCGCTCCTGTTCTGGGCCCTGGGCTGGCCCTGGCCATGAAGTGCAGTCACAGTGTGGTCACTGCCTGTCTTCCAGCAGACTCTATGCCCTTGCGGCAGATGGGCTCTGTCTGGGCCTCTCTGTCTGCCCCTCCCAGGCCAGGGTGGCCCTTCATCAAGGACCCACATGCTCCACTCTGGGAGCAGGCCCCACCCAGGCCCATTCCCCAGGATGCCAAGGGCTAAACTCTGGAGGGGTTGTGGTGCAAGGAAGGCCTGGGGCCCCTGAGGCTCCCATATGCTCACCCCTGGCCTCCTCCGGGCCTCTATTTCCCCATTGGTAACACGATGCTCCCTTAGCCTGTCCAGTTCTCTGAGTGGGACAGAGGGGCCACCACCCTGCTCGCCCTGACCCTGTTCCTGCAGCTTTCTGTGAGGCCCGCCTCTCCTAAGGTGGAAAGAGTGCCTCACTCTCGGCACAGACACACTCAACCGGGGCAGGTGCATCTGCTGTGCCCCCACCTCAGCTATTGGACCGTTTCTCAGTCCTTCAGGACTGCAGCCGCCTTCTGTCCTCTTTCCAGAGCCCATCCCGAAGTCTCAGGATATGAGGGCTTGGGGCATCTGAGATATCAAGGATGGGGCTGTCCTGAGTCCACTGGGGGCAGGAGGCGGCCAGCAGCAGGTGGCAGGGACAGGGGCCCCAGGTTTCTGTGTGGAGTAGGGGTGGAAGCCCTTGTTAGAGGGAAAGGCCCTGGGTCCCACCTGGTGCCAAGCCCACTGGGCCCGTGCCCCCAACCCATGGGTCTTGGCATCTGGCCTGGCCAGCACTGACCGGGATGGACGAGGTGGAGGGGCAGCACGGGGCTTCCCAGGCTTCCCTGGCCTGCACCCCTCCGGGAGGAGCGGGAGCAGCAGTTACTGAAAGGCAGGAACTGTTGTTTCCTTGTTGGGTAAATATTTGTGGAAACCCGGGGATGCCGGCCGGAAAGCAGGGCCCTCCACAGCGCCCAGGCCCCCCAGCCCCGGCCGCCCACCCCGGGACCCTGGCCCACAGGGAGCTCCGTGGGGCCGCCCATCTGGGCCGGGCGCGGCCCCGGCACCCAGCCCGCCTTGTTGTCCATATTATGGACTGCGCACAAAGTGCCCGAGGACTCCTCTCCTGGACGGGCCATTGCAGCCCTCTCGGGTGTGAAATGCAATTTACCTGAAATAAAGCCCAATTATGGAATTAGCTAATTAAAGCCATGGCGGAGGCTG
CTTATCGCGTGCTGATCTGTTTGCCCCTCCCCCACCACTTCTAGGTCTTTCCAGGCCTCCAGGTACCCACGGTGGGGGAGGGTCTACTTCATTCTCCACAGAGCACGCTGAGGGGCTCTCCTGCAAGAACACCGCAGGCTGAAGGACCAGCCCTGTCTCCTGTGGCCACCAACAGAGCTGTGCGCCCTCCCCGAACCCTCACTCATGCTAGGGCCCCCAGGTCCAACCTCCTAGGGAGAGGGGTCCCCAACCTGGACTCCCTCACCTGCCCTAGTCTGCCCCTGGGGTTGGCCCTGCTCCACCCAGCACCTGCTCTGAGGGTGCCAGGGTGCCGGCCTGCCGGCCAGGGCCTTCCAGTCTCCCCATCAAGGCTGGATGGCCACTTCCCACCCGGGGCGGGCTCCAGCCTCATTCCCCAGCGGTGCTGTCCTTCCAAGGAGCTCTCAGATCACCTGGCTGTCCACTCGTTTGGGGCTTCTCTGCTGCCTCCGCAGCACTGCGAGGCCTCTGATCACCTACTCTCTGTGCTGGGTGCATTTCGGGTTCTGTCCTGCCTTGACCTCCCTGCCAGCTTTGCAGGGCAGCCACCCTGGCACATAGCTCACTGCAGAACCAGCCCCTGAGAAGGTGGAGGCCACATGGCTAGCCAGAGGGCACGCTCTAGGGCACTGCTCTGACCACAGAATGTGGGTGCAGATGGTGTCTGGGAAAATAGTGGTGTCCCCGCTAGGTTAAAGACATGGCATAATGGTTCCTGGGGGATGACAAAAAAACCCACCCCCACCCCCTTGCAGAAAGCATCACAGAGGCACAAGCCCTGTGCCCTGCAAGCCCCTCCTGGAAGTGGCCCAGCAGGGGCATCCCCTGCACACCCAGGCAAAGCCCAAGCCCTCTGCCTCCTCAACCACCCCAGGCCCTGCCCATGAGCCAGCCTTGCTGAACTCTGCCCTCTGTCCAGTTCTCCTCCAGACACAGTAGACATAGCCCCCAGCCTTTCTTGACCCTTAACCCAAATGTCCCCAAGCCTGGCCTCAAGAAGCCAAAGGCTGCCGCAAACCCAAATATTTCAGGTCCGGGTCCCTGGTGCAGACCCTGCCATGCGGGGATGTGGCACAGAAGGCCGGCCAGCCTGGGGAGCAGAGAAGGAGGAGAGGAGAGCTCCTGGCCCTGAGCCTGAATGCCTGTGGACACATATAGGGACTCCCAGCACGCACGGGATGGACTCCAATCGGCACACATGCACATTCCTTGCACACACACAGGCGCGACCGAGGGCCTTGCAGACATAGGGTGCACACGTGCGTGCCGCCTGCATACAGCATGCACTTGCAGAGACGGTTGGCACCTTCCCTTCTCTGGCCCCAAACCTGGGCCCTGAGGCTGTCTGCACACCTGGGTGCTTCCCACCACTGACTCTCTCGTCTGCCTTTGTCCCCGCAGGTGACGCAGCTGGACCAGAGGCTGGCACTCATCACCGACATGCTTCACCAGCTGCTCTCCTTGCACGGTGGCAGCACCCCCGGCAGCGGCGGCCCCCCCAGAGAGGGCGGGGCCCACATCACCCAGCCCTGCGGCAGTGGCGGCTCCGTCGACCCTGAGCTCTTCCTGCCCAGCAACACCCTGCCCACCTACGAGCAGCTGACCGTGCCCAGGAGGGGCCCCGATGAGGGGTCCTGAGGAGGGGATGGGGCTGGGGGATGGGCCTGAGTGAGAGGGGAGGCCAAGAGTGGCCCCACCTGGCCCTCTCTGAAGGAGGCCACCTCCTAAAAGGCCCAGAGAGAAGAGCCCCACTCTCAGAGGCCCCAATACCCCATGGACCATGCTGTCTGGCACAGCCTGCACTTGGGGGCTCAGCAAGGCCACCTCTTCCTGGCCGGTGTGGGGGCCCCGTCTCAGGTCTGAGTTGTTACCCCAAGCGCCCTGGCCCCCACATGGTGATGTTGACATCACTGGCATGGTGGTTGGGACCCAGTGGCAGGGCACAGGGCCTGGCCCATGTATGGCCAGGAAGTAGCACAGGCTGAGTGCAGGCCCACCCTGCTTGGCCCAGGGGCTTCCTGAGGGGAGACAGAGCAACCCCTGGACCCCAGCCTCAAATCCAGGACCCTGCCAGGCACAGGCAGGGCAGGACCAGCCCACGCTGACTACAGGGCCGCCGGCAATAAAAGCCCAGGAGCCCATTTGGAGGGCCTGGGCCTGGCTCCCTCACTCTCAGGAAATGCTGACCCATGGGCAGGAGACTGTGGAGACTGCTCCTGAGCCCCCAGCTTCCAGCAGGAGGGACAGTCTCACCATTTCCCCAGGGCACGTGGTTGAGTGGGGGGAACGCCCACTTCCCTGGGTTAGACTGCCAGCTCTTCCTAGCTGGAGAGGAGCCCTGCCTCTCCGCCCCTGAGCCCACTGTGCGTGGGGCTCCCGCCTCCAACCCCTCGCCCAGTCCCAGCAGCCAGCCAAACACACAGAAGGGGACTGCCACCTCCCCTTGCCAGCTGCTGAGCCGCAGAGAAGTGACGGTTCCTACACAGGACAGGGGTTCCTTCTGGGCATTACATCGCATAGAAATCAATAATTTGTGGTGATTTGGATCTGTGTTTTAATGAGTTTCACAGTGTGATTTTGATTATTAATTGTGCAAGCTTTTCCTAATAAACGTGGAGAATCACAGGCTGGGCTGGGCACTGCTCTCACCTTGGTTCCTGGGGCATCCATGGGGTCTCTCACAGACAGGACCCCTGCAGTTCCCCTGGAAGCAGTGCCCAGGTGGCTGTGGAATAGGAACGCTATGTCCGTGTACTGAGGAGTAGGTCAGGGTTCAGAGGGGCTGCAAGATGCCATCGAAGGCTCTAGCTTAGCGACGTCGCTCCTGTTCTGGGCCCTGGGCTGGCCCTGGCCATGAAGTGCAGTCACAGTGTGGTCACTGCCTGTCTTCCAGCAGACTCTATGCCCTTGCGGCAGATGGGCTCTGTCTGGGCCTCTCTGTCTGCCCCTCCCAGGCCAGGGTGGCCCTTCATCAAGGACCCACATGCTCCACTCTGGGAGCAGGCCCCACCCAGGCCCATTCCCCAGGATGCCAAGGGCTAAACTCTGGAGGGGTTGTGGTGCAAGGAAGGCCTGGGGCCCCTGAGGCTCCCATATGCTCACCCCTGGCCTCCTCCGGGCCTCTATTTCCCCATTGGTAACACGATGCTCCCTTAGCCTGTCCAGTTCTCTGAGTGGGACAGAGGGGCCACCACCCTGCTCGCCCTGACCCTGTTCCTGCAGCTTTCTGTGAGGCCCGCCTCTCCTAAGGTGGAAAGAGTGCCTCACTCTCGGCACAGACACACTCAACCGGGGCAGGTGCATCTGCTGTGCCCCCACCTCAGCTATTGGACCGTTTCTCAGTCCTTCAGGACTGCAGCCGCCTTCTGTCCTCTTTCCAGAGCCCATCCCGAAGTCTCAGGATATGAGGGCTTGGGGCATCTGAGATATCAAGGATGGGGCTGTCCTGAGTCCACTGGGGGCAGGAGGCGGCCAGCAGCAGGTGGCAGGGACAGGGGCCCCAGGTTTCTGTGTGGAGTAGGGGTGGAAGCCCTTGTTAGAGGGAAAGGCCCTGGGTCCCACCTGGTGCCAAGCCCACTGGGCCCGTGCCCCCAACCCATGGGTCTTGGCATCTGGCCTGGCCAGCACTGACCGGGATGGACGAGGTGGAGGGGCAGCACGGGGCTTCCCAGGCTTCCCTGGCCTGCACCCCTCCGGGAGGAGCGGGAGCAGCAGTTACTGAAAGGCAGGAACTGTTGTTTCCTTGTTGGGTAAATATTTGTGGAAACCCGGGGATGCCGGCCGGAAAGCAGGGCCCTCCACAGCGCCCAGGCCCCCCAGCCCCGGCCGCCCACCCCGGGACCCTGGCCCACAGGGAGCTCCGTGGGGCCGCCCATCTGGGCCGGGCGCGGCCCCGGCACCCAGCCCGCCTTGTTGTCCATATTATGGACTGCGCACAAAGTGCCCGAGGACTCCTCTCCTGGACGGGCCATTGCAGCCCTCTCGGGTGTGAAATGCAATTTACCTGAAATAAAGCCCAATTATGGAATTAGCTAATTAAAGCCATGGCGGAGGCTGN
benign
171,028
A genetic alteration at chromosome 11, position 2883974, in gene CDKN1C (cyclin dependent kinase inhibitor 1C)—benign or pathogenic? If pathogenic, which disease(s) is involved?
benign
CTGCCACCCTCCTTTATCTCAGAAGGGAAAAGGCTTTGTCCTCCTCACACAGGTGAATGTGGAGGTTTCTCCCCTGTGGGAGAGGTTGGAAGGCCGAAGCCAGGTCTACATGGGTCTGGTCCCTCATTACCGTCAGCTGAGGGTCCCTGTTGCTGAGCCGAAGCAGCGAGACCTGCCACTCTCAGGTCCCGGGGGCATTTCCCGGAGTCTGGCCCCAGCTGGGCCTCGAGGCCAGGCCCATCACCCTCCCCGCCCAGCCCTTCCAGGCAGCTGGGGGGAGCTCAGTTAATTACATGTCTAAATACATCTCGACCATCTCAAGTTGAGCCCCCCTTTGTCCCTGCCCCCGGTGGAGGTGGGAGGAGGAAGTCAGCAACTGTCACGTAGGGCCCCGTAAGGGTCCACCAGTTCTTTTCTTCTCCCAGCCCAAGGCACCAGCAAAAATACTGCTAGCCGTTCTGTTTTTGCTATTTTACATCACCCTTTCCATTGTAAGCCATAATTTTCAGAGGTTTATAGGTCAGCTATTAAAATAATAAACGTCTCTTTTACTAAGAGGGAGCGCTTTGAAACTCGGGGCTGGTAGGGTGGACAGTGGGGGCGCACAGGGGTGCACTCAGCCTCGACTTCTTCCACCAAAGCCTGGTTATCAGAAGCCACCCCTCCCCATGTCCTCCTGATTCCAGGGCACCTCCCCCTTGTGCTCCCATTTCTGCCTCCCCTCAGAGGCTTCGAGGCTGCCCCTCCTCCACTGCAGGTGTGACTAGACCTTGAACACTTTGAGTGTCTTGTGGCAAGACCTAGGGAGACCCTGGCCCACAAAAACAGGAGACCCTGGTGCAAGGCCTGAAGAAGTCTGGAGGACTGGCTGTGTCTTGGTGGAGCCCTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCG
CTGCCACCCTCCTTTATCTCAGAAGGGAAAAGGCTTTGTCCTCCTCACACAGGTGAATGTGGAGGTTTCTCCCCTGTGGGAGAGGTTGGAAGGCCGAAGCCAGGTCTACATGGGTCTGGTCCCTCATTACCGTCAGCTGAGGGTCCCTGTTGCTGAGCCGAAGCAGCGAGACCTGCCACTCTCAGGTCCCGGGGGCATTTCCCGGAGTCTGGCCCCAGCTGGGCCTCGAGGCCAGGCCCATCACCCTCCCCGCCCAGCCCTTCCAGGCAGCTGGGGGGAGCTCAGTTAATTACATGTCTAAATACATCTCGACCATCTCAAGTTGAGCCCCCCTTTGTCCCTGCCCCCGGTGGAGGTGGGAGGAGGAAGTCAGCAACTGTCACGTAGGGCCCCGTAAGGGTCCACCAGTTCTTTTCTTCTCCCAGCCCAAGGCACCAGCAAAAATACTGCTAGCCGTTCTGTTTTTGCTATTTTACATCACCCTTTCCATTGTAAGCCATAATTTTCAGAGGTTTATAGGTCAGCTATTAAAATAATAAACGTCTCTTTTACTAAGAGGGAGCGCTTTGAAACTCGGGGCTGGTAGGGTGGACAGTGGGGGCGCACAGGGGTGCACTCAGCCTCGACTTCTTCCACCAAAGCCTGGTTATCAGAAGCCACCCCTCCCCATGTCCTCCTGATTCCAGGGCACCTCCCCCTTGTGCTCCCATTTCTGCCTCCCCTCAGAGGCTTCGAGGCTGCCCCTCCTCCACTGCAGGTGTGACTAGACCTTGAACACTTTGAGTGTCTTGTGGCAAGACCTAGGGAGACCCTGGCCCACAAAAACAGGAGACCCTGGTGCAAGGCCTGAAGAAGTCTGGAGGACTGGCTGTGTCTTGGTGGAGCCCTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGC
benign
171,038
Chromosome 11, position 2884840, gene CDKN1C (cyclin dependent kinase inhibitor 1C): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
benign
GGCTGTGTCTTGGTGGAGCCCTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACG
GGCTGTGTCTTGGTGGAGCCCTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACA
benign
171,054
Variant at chromosome position 2884840, chromosome 11, gene CDKN1C (cyclin dependent kinase inhibitor 1C): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
benign
GGCTGTGTCTTGGTGGAGCCCTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACG
GGCTGTGTCTTGGTGGAGCCCTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACA
benign
171,055
Variant in CDKN1C (cyclin dependent kinase inhibitor 1C), chromosome 11, position 2884840—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
benign
GGCTGTGTCTTGGTGGAGCCCTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACG
GGCTGTGTCTTGGTGGAGCCCTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
benign
171,056
Gene CDKN1C (cyclin dependent kinase inhibitor 1C) variant at chromosome position 2884857 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
benign
GCCCTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCA
GCCCTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCCGGTGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCC
benign
171,057
Chromosome 11, position 2884860, gene CDKN1C (cyclin dependent kinase inhibitor 1C): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
benign
CTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGC
CTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACG
benign
171,058
A genetic alteration at chromosome 11, position 2884860, in gene CDKN1C (cyclin dependent kinase inhibitor 1C)—benign or pathogenic? If pathogenic, which disease(s) is involved?
benign
CTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGC
CTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCNNNNNN
benign
171,059
The mutation in gene CDKN1C (cyclin dependent kinase inhibitor 1C) at chromosome 11, position 2884860—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
benign
CTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGC
CTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCNNNNNNNNNNNN
benign
171,060
A mutation at chromosome position 2884872 on chromosome 11 in gene CDKN1C (cyclin dependent kinase inhibitor 1C): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
benign
CTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGA
CTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGANNNNNNNNNNNNNNNNNN
benign
171,062
For chromosome 11, position 2884878, gene CDKN1C (cyclin dependent kinase inhibitor 1C): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
benign
CTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGAGACCAT
CTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACC
benign
171,063
Is the variant located on chromosome 11 at position 2884878, gene CDKN1C (cyclin dependent kinase inhibitor 1C), benign or pathogenic? If pathogenic, specify the disease(s) linked.
benign
CTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGAGACCAT
CTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGAGACCATNNNNNNNNNNNN
benign
171,064
The mutation impacting CDKN1C (cyclin dependent kinase inhibitor 1C) on chromosome 11 at position 2884884: benign or pathogenic? Name the associated disease(s) if pathogenic.
benign
GCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGAGACCATTATTTC
GCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGAGACCATTATTTCNNNNNN
benign
171,066
Clinically, how would you classify the variant at chromosome 11, position 2884887, gene CDKN1C (cyclin dependent kinase inhibitor 1C): benign or pathogenic? If pathogenic, specify the associated illness(es).
benign
TCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGAGACCATTATTTCCTG
TCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGAGACCATTATTTCCTGNNNNNNNNNNNNNNNNNNNNNNNN
benign
171,067
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 2884890, gene CDKN1C (cyclin dependent kinase inhibitor 1C): what disease(s) if pathogenic?
benign
TCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGAGACCATTATTTCCTGCTG
TCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGAGACCATTATTTC
benign
171,070
Gene CDKN1C (cyclin dependent kinase inhibitor 1C) variant at chromosome position 2884893 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
benign
AACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGAGACCATTATTTCCTGCTGCCT
AACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGAGACCATTATTTCCTGCTGCCTNNNNNNNNNNNNNNNNNN
benign
171,072
Gene mutation in CDKN1C (cyclin dependent kinase inhibitor 1C) at chromosome 11, position 2884929—is it benign or pathogenic? If pathogenic, specify the disease(s).
benign
GCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGAGACCATTATTTCCTGCTGCCTCCCTTTTGGCCCACCTACCATGAGGCAGGGAGCCCC
GCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGAGACCATTATTTCCTGCTGCCTCCCTTTTGGCCCACCTACCATGAGGCAGGGAGCCCCNNNNNNNNNNNNNNNNNN
benign
171,076
For chromosome 11, position 2884935, gene CDKN1C (cyclin dependent kinase inhibitor 1C): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
benign
GGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGAGACCATTATTTCCTGCTGCCTCCCTTTTGGCCCACCTACCATGAGGCAGGGAGCCCCCTCCTC
GGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGAGACCATTATTTCCTGCTGCCTCCCTTTTGGCCCACCTACCATGAGGCAGGGAGCCCCCTCCTCNNNNNN
benign
171,078
Evaluate this variant at chromosome 11, position 2884935, gene CDKN1C (cyclin dependent kinase inhibitor 1C): benign or pathogenic? If pathogenic, what are the disease connection(s)?
benign
GGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGAGACCATTATTTCCTGCTGCCTCCCTTTTGGCCCACCTACCATGAGGCAGGGAGCCCCCTCCTC
GGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGAGACCATTATTTCCTGCTGCCTCCCTTTTGGCCCACCTACCATGAGGCAGGGAGCCCCCTCCTCNNNNNNNNNNNN
benign
171,079
Does the variant on chromosome 11 at location 2884966 affecting gene CDKN1C (cyclin dependent kinase inhibitor 1C) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
benign
GCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGAGACCATTATTTCCTGCTGCCTCCCTTTTGGCCCACCTACCATGAGGCAGGGAGCCCCCTCCTCAAACCAGGAGCCTCCCAGATCGGGATGGGGA
GCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGAGACCATTATTTCCTGCTGCCTCCCTTTTGGCCCACCTACCATGAGGCAGGGAGCCCCCTCCTCAAACCAGGAGCCTCCCAGA
benign
171,083
Does the chromosome 11 mutation at position 2884966 within gene CDKN1C (cyclin dependent kinase inhibitor 1C) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
benign
GCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGAGACCATTATTTCCTGCTGCCTCCCTTTTGGCCCACCTACCATGAGGCAGGGAGCCCCCTCCTCAAACCAGGAGCCTCCCAGATCGGGATGGGGA
GCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGAGACCATTATTTCCTGCTGCCTCCCTTTTGGCCCACCTACCATGAGGCAGGGAGCCCCCTCCTCAAACCAGGAGCCTCCCAGATCGGGATGGGGANNNNNNNNNNNN
benign
171,084
A genetic variant on chromosome 11, position 2884990, affects the gene CDKN1C (cyclin dependent kinase inhibitor 1C). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
benign
CCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGAGACCATTATTTCCTGCTGCCTCCCTTTTGGCCCACCTACCATGAGGCAGGGAGCCCCCTCCTCAAACCAGGAGCCTCCCAGATCGGGATGGGGACTGTCAGACACCTGTTGGAGGGTC
CCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGAGACCATTATTTCCTGCTGCCTCCCTTTTGGCCCACCTACCATGAGGCAGGGAGCCCCCTCCTCAAACCAGGAGCCTCCCAGATCGGGATGGGGACTGTCAGACACCTGTTGGAGGGTCNNNNNN
benign
171,085
Regarding the variant at chromosome 11 and position 2885046, affecting gene CDKN1C (cyclin dependent kinase inhibitor 1C): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Beckwith-Wiedemann_syndrome', 'IMAGe_syndrome']
GTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGAGACCATTATTTCCTGCTGCCTCCCTTTTGGCCCACCTACCATGAGGCAGGGAGCCCCCTCCTCAAACCAGGAGCCTCCCAGATCGGGATGGGGACTGTCAGACACCTGTTGGAGGGTCCAGCAGCCCATGAGATCTAAGCCCCTATCTCAGGTGAGCCTGTGAGCCAGCAGAGA
GTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGAGACCATTATTTCCTGCTGCCTCCCTTTTGGCCCACCTACCATGAGGCAGGGAGCCCCCTCCTCAAACCAGGAGCCTCCCAGATCGGGATGGGGACTGTCAGACACCTGTTGGAGGGTCCAGCAGCCCATGAGATCTAAGCCCCTATCTCAGGTGAGCCTGTGAGCCAGCAGAGAN
pathogenic
171,088
Clinical classification of chromosome 11, position 2885068, gene CDKN1C (cyclin dependent kinase inhibitor 1C): benign or pathogenic? Disease(s) if pathogenic?
pathogenic; ['Beckwith-Wiedemann_syndrome']
CAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACCGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGAGACCATTATTTCCTGCTGCCTCCCTTTTGGCCCACCTACCATGAGGCAGGGAGCCCCCTCCTCAAACCAGGAGCCTCCCAGATCGGGATGGGGACTGTCAGACACCTGTTGGAGGGTCCAGCAGCCCATGAGATCTAAGCCCCTATCTCAGGTGAGCCTGTGAGCCAGCAGAGAGACCTCTGGGAGGGAGGGAAGG
CAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATAATAAGAGAGACAGCGAAAGCGCGAAGAGACTGCAAGCTAGATGGGCATGTATGGCAGCTACAGCTTGTGAGTGACCCCCTTCCCCAGAGTCCGCGATGAAAATAAAGTTACACTTGTCAATAACCAGATGTGGGAGATGGAGAGTGCCTTTGGCATAACCAATAACCGAGCTAGTGCGTGGCAGAGCGGTCCACGCCTGGACATAAATAGAAAATATAAGTTAGTATAACTTTAAAAACTTTTTGTACAAATATACATGGTTTTTTTATTTTTTCCTTTTTTTTTTCTTTTTTCTTTTTTTTGCACTGAGTTTCAGCAGAGATTAAACATTTTATATAAATGACTCTTAAAGCTTTACACCTTGGGACCAGTGTACCTTCTCGTGCAGAATACATTTAGATATAAAAAGACGTTATTAATACATTGCACAGTTTTCAAAATTTAAAAACAAAACCGAACGCTGCTCTGCGGCAGCCGCCGCCGGTTGCTGCTACATGAACGGTCCCAGCCGAGGCCCAGCGCCCTTCCAACGTCCGCTGCCCCGGCAGGTTCCCTCGGGGCTCTTTGGGCTCTAAACTGCGAGGAGAGGGGCGGTCAGCAAAGCCGGCGGGGACCCGGCGGGTCGGCCCTCCGCGCCCCCCCAGGTGCGCTGTACTCACTTGGCTCACCGCAGCCTCTTGCGCGGGGTCTGCTCCACCGAGCCCACGCCAGGGGCGGCGCTTGGAGAGGGACACGGCGCGGGGACATCGCCCGACGACTTCTCAGGCGCTGATCTCTTGCGCTTGGCGAAGAAATCTGCGGGCGACAGCGCGCGCGGCCGGTCAGGGCGGGGCCGGCCCGGAGACCCGAGAGGGGGCCGGGAGAGGGCGCGGGGCGCGGGCCGGCCGGGGTGGGGGCGCCGTCCCCGCCCGCGCCGAGGTCCGCGGCGGGTCAGCTTTGTTTACGTCGCCGCGCAATGTGCTGTGTAAGCATTTCCCCTTGTCCCGCGGCCAAGCCCCCCGGGGCCGCCGCCGCGCTTAACCCCCTCCACGCCGTGCTCACGGCGCCCGGCCGCGCCCGGGGAGGGGCTCCCGCGGCCGGGGGCGAAAACTGCGCTCCCGGGGGGTCGCGGCCGGGATTCAGCCTCCCACCCCGCCCGCGCGAAGCCGCTGGAGGGCACAACAACGGGGCGGGGAGGGGGGTAAGGGCGCAGCCGCGCCCTGAGCGCTGCGGGCCCTTTAATGCCACGGGAGGAGGCGGGAACCCAGCGAGGCCCCCGAGGGCTGGGGGGACCGGCCGGCCGGACAAAGCGGGGCCGGGCCGGGCCGGGGCGGGGCCGTGCGGGGCTCACCGGAGATCAGAGGCCCGGACAGCTTCTTGATCGCCGCGCCGTTGGCGCTGGCGGCCGCGGTGCCGGCCGCGGGACGTCCCGAAATCCCCGAGTGCAGCTGGTCAGCGAGAGGCTCCTGGCCGCGCTGCCCCTGGTTCGCGCCCTGCTCGGCGCTCTCTTGAGGCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCCGGGGCCGGGGCTGGAGCCAGGACCGGGACTGGGGGCGGGGTGGACGCCGGGGCCGGGACGGGACACTAGGCAGCTGCTCCGGCGCCTCCTCGAGGCCGTCGAGGGACTCAGCGGCCGGCTCGAGGGGCGGGCTGACAGCCACCGCGACCGCGACGGGCCGCGGCGCCAGCAGCAGGCGGCAGCGCCCCACCTGCACCGTCTCGCGGTAGAACGCGGGCACCGAGTCGCTGTCCACTTCGGTCCACTGCAGGCGTCCAGGGCCCCGCAGCGGCATGTCCTGCTGGAAGTCGTAATCCCAGCGGTTCTGGTCCTCGGCGTTCAGCTCGGCCAGGCGGGCCTGCAGCTCGCGGCTCAGCTCCTCGTGGTCCACCGGCCCGAAGAGGCTGCGGCAGGCGCTGGTGCGCACTAGTACTGGGAAGGTCCCACGGGCGACAAGACGCTCCATCGTGGATGTGCTGCGGAGGGACGCGTCGGACATGGCCCGGGGCTGCGCAAACGCGGGCAGCGAGAGAGGAGAGGACAGCGAGAAGAAGGGGAAAGGAGAGGAGGAGAGGGCGGAGGCCGGGCGCAAGGGAGACCCCGCGCCGCCCGACTCTGCGTGTGCGAGGGACGCGGCGGCTACCTGGCTGTCCGGTGGTGGACTCTTCTGCGTCGGGTTCGCCTGTCTCGTCCGGACGGCAGCCGCGCCCCCTCGATGCCTGCTGGCTAGCTCGCTCGCTCAGGCCTGGCCGGCACCCCTCGAGCACAGCGCACTTGGCCTGTGGAACGCCCAGCCCGCCTGCGCCCCCTTTATACGCGCGGGCCCCACCCCCGTGCGCGCGGGCCCGGCCGCGATTAGCATAATGTAGTATTTTCAGTTTCAACAACACCACGGCGATTGGCGGCCGCCCCGCTGCCCCGCCCCGCCGCGGCCCGGCCCCCGCGCACCGCCCATTGGCCGCGCGCACACCCACCGGGGGCGGGGCGGGGCGCGCGGCCGGGGCGCGCGGCTGATTGGCGGCCGCGGGGCGAGCGCGCTGTAGCAGGGGAAGGGGGCGGTGAGCGGGGCGGGGGCGGGAGTTAAAGGGCGCTGCGGGCGGTAACGTGACACCGCGACGCCCGCCCCCTCGCCCCATCCCCCCTGCAACACTCCCCCACCCCCCCGGCTCCCGCCCCCCGCCGGCTCCTTTGTCTGCAGGCGGGGGCCTCAGCCCAGCGCGGCAGGGGCCGGCTCCTGGCGGGTCCGGTGTCCGGCCAGGCCCAACTCGACCCCGGCCCGGTCCGGACCCCGGCGCCCAGCTCCGTCCCGCGCTCGCCCGTGGGCCTCCTGCGCCAGCTGACGAGGCTTGGACCCGCCGCTGCCAGCTCGGCCCTGGCCTGCGCCGGATGGGGTCTTCGGCTGCCCCCGCGCGGCCTGCTGCTGCTGGGCTGGTGTCCCTTCGAGGGCTCCGCGCGCCTGGAGCCCTCACACACCTGCTGGCCCTAAGGCCCTCGAGTCGGGAGGGGGGACAGGGGTCAGCTCCACTCTTTCCCCGAGGGACCATGTGTGGGACACCTTGAGAGACTCCCACCAGCCCCCTGGAGCTGGAGTCTGAAGCCGCTATCTGCGGAGGCCCACCCTGCCCAGTAGATGGAACAGGGGCTGAGCCCATCATGTCACTGTCGGGGGTCCCAGCCCTTCTCAGCCTTGGGCCAGACCACTCCAGCCCCGGGATCTGCCTGTCCAGGCTGGCTGGAAGCTGTTGTACTGGGTAAAAGTGAAAGATCTGCCCGAGGTCATAGGGGAAGGGGCTGTGAAGGACCATGCCCCTCCCCCGCCTGCAGCCCTTCCTGGTACAGACCTCGGTCGTGCGCGCACGCACACACACACACACACACACACGCACGCACACACACGGTGCTTCACCCCAGCCAGGCCAGACCAAAAGAGACCATTATTTCCTGCTGCCTCCCTTTTGGCCCACCTACCATGAGGCAGGGAGCCCCCTCCTCAAACCAGGAGCCTCCCAGATCGGGATGGGGACTGTCAGACACCTGTTGGAGGGTCCAGCAGCCCATGAGATCTAAGCCCCTATCTCAGGTGAGCCTGTGAGCCAGCAGAGAGACCTCTGGGAGGGAGGGAAGGN
pathogenic
171,089
Variant chromosome 11, position 5225483, gene HBB: benign or pathogenic? Disease(s)?
pathogenic; ['Beta-plus-thalassemia', 'beta_Thalassemia']
GGCCAGGCCCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGTGGCCGAGGCAGGCGGATCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGTTCATCAATTCTGCCATAAATGGCAGGATTTTCTTCTTTTTAATTTTTTTATTTTCCTATTTTTAATTTTTTGTTTGTTATTGAATCATCTGTGTTTCTTATATATTTTGGATATTAACCAAAATATTTAAGAAATATTTGGTTTGCAAATATGCCATTTCATGGTTCACCTTTCATTTGTTCATTGTTTTGTTTTTTGTGTGGAAATTTTTTAGTTTGATGTAGCCTCACTTCTTTATTTTTCCTTTTGTTGCCTTTGCTTCTCATATCAAATTCAAAAAACGGCTGCAACGTGAATATTAGAATTTTCTTCTTTTGATTTCTTTAAAAATTTTTATGGTTTTAGGTCTTAGTTTAATTCTTTAACCCATTCAAATTTATTTTTGTTTATGGTGTAAGACAAGGGTCTGATTTCATTTCATTTTGAGGGTTTCACCCTCTCATATAATAAAATTCTTCTATATACCCTTCTATCATCACTTATTACTGATTATATGCCTTGATTTCAGAATCTTGCCAACTAGATTCAGAATTTGACTGGGAGAGAGGACAAGGACCACTTGAGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAA
GGCCAGGCCCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGTGGCCGAGGCAGGCGGATCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGTTCATCAATTCTGCCATAAATGGCAGGATTTTCTTCTTTTTAATTTTTTTATTTTCCTATTTTTAATTTTTTGTTTGTTATTGAATCATCTGTGTTTCTTATATATTTTGGATATTAACCAAAATATTTAAGAAATATTTGGTTTGCAAATATGCCATTTCATGGTTCACCTTTCATTTGTTCATTGTTTTGTTTTTTGTGTGGAAATTTTTTAGTTTGATGTAGCCTCACTTCTTTATTTTTCCTTTTGTTGCCTTTGCTTCTCATATCAAATTCAAAAAACGGCTGCAACGTGAATATTAGAATTTTCTTCTTTTGATTTCTTTAAAAATTTTTATGGTTTTAGGTCTTAGTTTAATTCTTTAACCCATTCAAATTTATTTTTGTTTATGGTGTAAGACAAGGGTCTGATTTCATTTCATTTTGAGGGTTTCACCCTCTCATATAATAAAATTCTTCTATATACCCTTCTATCATCACTTATTACTGATTATATGCCTTGATTTCAGAATCTTGCCAACTAGATTCAGAATTTGACTGGGAGAGAGGACAAGGACCACTTGAGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAANNNNN
pathogenic
171,230
The mutation in gene HBB at chromosome 11, position 5225486—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['beta_Thalassemia']
CAGGCCCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGTGGCCGAGGCAGGCGGATCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGTTCATCAATTCTGCCATAAATGGCAGGATTTTCTTCTTTTTAATTTTTTTATTTTCCTATTTTTAATTTTTTGTTTGTTATTGAATCATCTGTGTTTCTTATATATTTTGGATATTAACCAAAATATTTAAGAAATATTTGGTTTGCAAATATGCCATTTCATGGTTCACCTTTCATTTGTTCATTGTTTTGTTTTTTGTGTGGAAATTTTTTAGTTTGATGTAGCCTCACTTCTTTATTTTTCCTTTTGTTGCCTTTGCTTCTCATATCAAATTCAAAAAACGGCTGCAACGTGAATATTAGAATTTTCTTCTTTTGATTTCTTTAAAAATTTTTATGGTTTTAGGTCTTAGTTTAATTCTTTAACCCATTCAAATTTATTTTTGTTTATGGTGTAAGACAAGGGTCTGATTTCATTTCATTTTGAGGGTTTCACCCTCTCATATAATAAAATTCTTCTATATACCCTTCTATCATCACTTATTACTGATTATATGCCTTGATTTCAGAATCTTGCCAACTAGATTCAGAATTTGACTGGGAGAGAGGACAAGGACCACTTGAGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTC
CAGGCCCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGTGGCCGAGGCAGGCGGATCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGTTCATCAATTCTGCCATAAATGGCAGGATTTTCTTCTTTTTAATTTTTTTATTTTCCTATTTTTAATTTTTTGTTTGTTATTGAATCATCTGTGTTTCTTATATATTTTGGATATTAACCAAAATATTTAAGAAATATTTGGTTTGCAAATATGCCATTTCATGGTTCACCTTTCATTTGTTCATTGTTTTGTTTTTTGTGTGGAAATTTTTTAGTTTGATGTAGCCTCACTTCTTTATTTTTCCTTTTGTTGCCTTTGCTTCTCATATCAAATTCAAAAAACGGCTGCAACGTGAATATTAGAATTTTCTTCTTTTGATTTCTTTAAAAATTTTTATGGTTTTAGGTCTTAGTTTAATTCTTTAACCCATTCAAATTTATTTTTGTTTATGGTGTAAGACAAGGGTCTGATTTCATTTCATTTTGAGGGTTTCACCCTCTCATATAATAAAATTCTTCTATATACCCTTCTATCATCACTTATTACTGATTATATGCCTTGATTTCAGAATCTTGCCAACTAGATTCAGAATTTGACTGGGAGAGAGGACAAGGACCACTTGAGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCNN
pathogenic
171,232
For chromosome 11, position 5225645, gene HBB: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['beta_Thalassemia']
CAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGTTCATCAATTCTGCCATAAATGGCAGGATTTTCTTCTTTTTAATTTTTTTATTTTCCTATTTTTAATTTTTTGTTTGTTATTGAATCATCTGTGTTTCTTATATATTTTGGATATTAACCAAAATATTTAAGAAATATTTGGTTTGCAAATATGCCATTTCATGGTTCACCTTTCATTTGTTCATTGTTTTGTTTTTTGTGTGGAAATTTTTTAGTTTGATGTAGCCTCACTTCTTTATTTTTCCTTTTGTTGCCTTTGCTTCTCATATCAAATTCAAAAAACGGCTGCAACGTGAATATTAGAATTTTCTTCTTTTGATTTCTTTAAAAATTTTTATGGTTTTAGGTCTTAGTTTAATTCTTTAACCCATTCAAATTTATTTTTGTTTATGGTGTAAGACAAGGGTCTGATTTCATTTCATTTTGAGGGTTTCACCCTCTCATATAATAAAATTCTTCTATATACCCTTCTATCATCACTTATTACTGATTATATGCCTTGATTTCAGAATCTTGCCAACTAGATTCAGAATTTGACTGGGAGAGAGGACAAGGACCACTTGAGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAA
CAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGTTCATCAATTCTGCCATAAATGGCAGGATTTTCTTCTTTTTAATTTTTTTATTTTCCTATTTTTAATTTTTTGTTTGTTATTGAATCATCTGTGTTTCTTATATATTTTGGATATTAACCAAAATATTTAAGAAATATTTGGTTTGCAAATATGCCATTTCATGGTTCACCTTTCATTTGTTCATTGTTTTGTTTTTTGTGTGGAAATTTTTTAGTTTGATGTAGCCTCACTTCTTTATTTTTCCTTTTGTTGCCTTTGCTTCTCATATCAAATTCAAAAAACGGCTGCAACGTGAATATTAGAATTTTCTTCTTTTGATTTCTTTAAAAATTTTTATGGTTTTAGGTCTTAGTTTAATTCTTTAACCCATTCAAATTTATTTTTGTTTATGGTGTAAGACAAGGGTCTGATTTCATTTCATTTTGAGGGTTTCACCCTCTCATATAATAAAATTCTTCTATATACCCTTCTATCATCACTTATTACTGATTATATGCCTTGATTTCAGAATCTTGCCAACTAGATTCAGAATTTGACTGGGAGAGAGGACAAGGACCACTTGAGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAANNNNNNNNNNNNNNNNN
pathogenic
171,243
Regarding the variant found on chromosome 11 at position 5225663 in gene HBB: is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['beta_Thalassemia', 'likely other unspecified diseases']
CCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGTTCATCAATTCTGCCATAAATGGCAGGATTTTCTTCTTTTTAATTTTTTTATTTTCCTATTTTTAATTTTTTGTTTGTTATTGAATCATCTGTGTTTCTTATATATTTTGGATATTAACCAAAATATTTAAGAAATATTTGGTTTGCAAATATGCCATTTCATGGTTCACCTTTCATTTGTTCATTGTTTTGTTTTTTGTGTGGAAATTTTTTAGTTTGATGTAGCCTCACTTCTTTATTTTTCCTTTTGTTGCCTTTGCTTCTCATATCAAATTCAAAAAACGGCTGCAACGTGAATATTAGAATTTTCTTCTTTTGATTTCTTTAAAAATTTTTATGGTTTTAGGTCTTAGTTTAATTCTTTAACCCATTCAAATTTATTTTTGTTTATGGTGTAAGACAAGGGTCTGATTTCATTTCATTTTGAGGGTTTCACCCTCTCATATAATAAAATTCTTCTATATACCCTTCTATCATCACTTATTACTGATTATATGCCTTGATTTCAGAATCTTGCCAACTAGATTCAGAATTTGACTGGGAGAGAGGACAAGGACCACTTGAGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAAT
CCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGTTCATCAATTCTGCCATAAATGGCAGGATTTTCTTCTTTTTAATTTTTTTATTTTCCTATTTTTAATTTTTTGTTTGTTATTGAATCATCTGTGTTTCTTATATATTTTGGATATTAACCAAAATATTTAAGAAATATTTGGTTTGCAAATATGCCATTTCATGGTTCACCTTTCATTTGTTCATTGTTTTGTTTTTTGTGTGGAAATTTTTTAGTTTGATGTAGCCTCACTTCTTTATTTTTCCTTTTGTTGCCTTTGCTTCTCATATCAAATTCAAAAAACGGCTGCAACGTGAATATTAGAATTTTCTTCTTTTGATTTCTTTAAAAATTTTTATGGTTTTAGGTCTTAGTTTAATTCTTTAACCCATTCAAATTTATTTTTGTTTATGGTGTAAGACAAGGGTCTGATTTCATTTCATTTTGAGGGTTTCACCCTCTCATATAATAAAATTCTTCTATATACCCTTCTATCATCACTTATTACTGATTATATGCCTTGATTTCAGAATCTTGCCAACTAGATTCAGAATTTGACTGGGAGAGAGGACAAGGACCACTTGAGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATNNNNNNNN
pathogenic
171,246
Evaluate if the mutation on chromosome 11 at position 5225718 in HBB is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['Beta-thalassemia_HBB/LCRB', 'Beta_zero_thalassemia', 'Dominant_beta-thalassemia', 'Erythrocytosis,_familial,_6', 'Hb_SS_disease', 'Heinz_body_anemia', 'Hereditary_persistence_of_fetal_hemoglobin', 'METHEMOGLOBINEMIA,_BETA_TYPE', 'Malaria,_susceptibility_to', 'beta_Thalassemia']
CAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGTTCATCAATTCTGCCATAAATGGCAGGATTTTCTTCTTTTTAATTTTTTTATTTTCCTATTTTTAATTTTTTGTTTGTTATTGAATCATCTGTGTTTCTTATATATTTTGGATATTAACCAAAATATTTAAGAAATATTTGGTTTGCAAATATGCCATTTCATGGTTCACCTTTCATTTGTTCATTGTTTTGTTTTTTGTGTGGAAATTTTTTAGTTTGATGTAGCCTCACTTCTTTATTTTTCCTTTTGTTGCCTTTGCTTCTCATATCAAATTCAAAAAACGGCTGCAACGTGAATATTAGAATTTTCTTCTTTTGATTTCTTTAAAAATTTTTATGGTTTTAGGTCTTAGTTTAATTCTTTAACCCATTCAAATTTATTTTTGTTTATGGTGTAAGACAAGGGTCTGATTTCATTTCATTTTGAGGGTTTCACCCTCTCATATAATAAAATTCTTCTATATACCCTTCTATCATCACTTATTACTGATTATATGCCTTGATTTCAGAATCTTGCCAACTAGATTCAGAATTTGACTGGGAGAGAGGACAAGGACCACTTGAGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGA
CAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGTTCATCAATTCTGCCATAAATGGCAGGATTTTCTTCTTTTTAATTTTTTTATTTTCCTATTTTTAATTTTTTGTTTGTTATTGAATCATCTGTGTTTCTTATATATTTTGGATATTAACCAAAATATTTAAGAAATATTTGGTTTGCAAATATGCCATTTCATGGTTCACCTTTCATTTGTTCATTGTTTTGTTTTTTGTGTGGAAATTTTTTAGTTTGATGTAGCCTCACTTCTTTATTTTTCCTTTTGTTGCCTTTGCTTCTCATATCAAATTCAAAAAACGGCTGCAACGTGAATATTAGAATTTTCTTCTTTTGATTTCTTTAAAAATTTTTATGGTTTTAGGTCTTAGTTTAATTCTTTAACCCATTCAAATTTATTTTTGTTTATGGTGTAAGACAAGGGTCTGATTTCATTTCATTTTGAGGGTTTCACCCTCTCATATAATAAAATTCTTCTATATACCCTTCTATCATCACTTATTACTGATTATATGCCTTGATTTCAGAATCTTGCCAACTAGATTCAGAATTTGACTGGGAGAGAGGACAAGGACCACTTGAGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGG
pathogenic
171,258
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 5225767, gene HBB: what disease(s) if pathogenic?
benign
GCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGTTCATCAATTCTGCCATAAATGGCAGGATTTTCTTCTTTTTAATTTTTTTATTTTCCTATTTTTAATTTTTTGTTTGTTATTGAATCATCTGTGTTTCTTATATATTTTGGATATTAACCAAAATATTTAAGAAATATTTGGTTTGCAAATATGCCATTTCATGGTTCACCTTTCATTTGTTCATTGTTTTGTTTTTTGTGTGGAAATTTTTTAGTTTGATGTAGCCTCACTTCTTTATTTTTCCTTTTGTTGCCTTTGCTTCTCATATCAAATTCAAAAAACGGCTGCAACGTGAATATTAGAATTTTCTTCTTTTGATTTCTTTAAAAATTTTTATGGTTTTAGGTCTTAGTTTAATTCTTTAACCCATTCAAATTTATTTTTGTTTATGGTGTAAGACAAGGGTCTGATTTCATTTCATTTTGAGGGTTTCACCCTCTCATATAATAAAATTCTTCTATATACCCTTCTATCATCACTTATTACTGATTATATGCCTTGATTTCAGAATCTTGCCAACTAGATTCAGAATTTGACTGGGAGAGAGGACAAGGACCACTTGAGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAA
GCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGTTCATCAATTCTGCCATAAATGGCAGGATTTTCTTCTTTTTAATTTTTTTATTTTCCTATTTTTAATTTTTTGTTTGTTATTGAATCATCTGTGTTTCTTATATATTTTGGATATTAACCAAAATATTTAAGAAATATTTGGTTTGCAAATATGCCATTTCATGGTTCACCTTTCATTTGTTCATTGTTTTGTTTTTTGTGTGGAAATTTTTTAGTTTGATGTAGCCTCACTTCTTTATTTTTCCTTTTGTTGCCTTTGCTTCTCATATCAAATTCAAAAAACGGCTGCAACGTGAATATTAGAATTTTCTTCTTTTGATTTCTTTAAAAATTTTTATGGTTTTAGGTCTTAGTTTAATTCTTTAACCCATTCAAATTTATTTTTGTTTATGGTGTAAGACAAGGGTCTGATTTCATTTCATTTTGAGGGTTTCACCCTCTCATATAATAAAATTCTTCTATATACCCTTCTATCATCACTTATTACTGATTATATGCCTTGATTTCAGAATCTTGCCAACTAGATTCAGAATTTGACTGGGAGAGAGGACAAGGACCACTTGAGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAAN
benign
171,269
A mutation at chromosome position 5225824 on chromosome 11 in gene HBB: benign or pathogenic? If pathogenic, which disease(s) is it linked to?
benign
ATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGTTCATCAATTCTGCCATAAATGGCAGGATTTTCTTCTTTTTAATTTTTTTATTTTCCTATTTTTAATTTTTTGTTTGTTATTGAATCATCTGTGTTTCTTATATATTTTGGATATTAACCAAAATATTTAAGAAATATTTGGTTTGCAAATATGCCATTTCATGGTTCACCTTTCATTTGTTCATTGTTTTGTTTTTTGTGTGGAAATTTTTTAGTTTGATGTAGCCTCACTTCTTTATTTTTCCTTTTGTTGCCTTTGCTTCTCATATCAAATTCAAAAAACGGCTGCAACGTGAATATTAGAATTTTCTTCTTTTGATTTCTTTAAAAATTTTTATGGTTTTAGGTCTTAGTTTAATTCTTTAACCCATTCAAATTTATTTTTGTTTATGGTGTAAGACAAGGGTCTGATTTCATTTCATTTTGAGGGTTTCACCCTCTCATATAATAAAATTCTTCTATATACCCTTCTATCATCACTTATTACTGATTATATGCCTTGATTTCAGAATCTTGCCAACTAGATTCAGAATTTGACTGGGAGAGAGGACAAGGACCACTTGAGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTG
ATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGTTCATCAATTCTGCCATAAATGGCAGGATTTTCTTCTTTTTAATTTTTTTATTTTCCTATTTTTAATTTTTTGTTTGTTATTGAATCATCTGTGTTTCTTATATATTTTGGATATTAACCAAAATATTTAAGAAATATTTGGTTTGCAAATATGCCATTTCATGGTTCACCTTTCATTTGTTCATTGTTTTGTTTTTTGTGTGGAAATTTTTTAGTTTGATGTAGCCTCACTTCTTTATTTTTCCTTTTGTTGCCTTTGCTTCTCATATCAAATTCAAAAAACGGCTGCAACGTGAATATTAGAATTTTCTTCTTTTGATTTCTTTAAAAATTTTTATGGTTTTAGGTCTTAGTTTAATTCTTTAACCCATTCAAATTTATTTTTGTTTATGGTGTAAGACAAGGGTCTGATTTCATTTCATTTTGAGGGTTTCACCCTCTCATATAATAAAATTCTTCTATATACCCTTCTATCATCACTTATTACTGATTATATGCCTTGATTTCAGAATCTTGCCAACTAGATTCAGAATTTGACTGGGAGAGAGGACAAGGACCACTTGAGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGN
benign
171,277
Is the chromosome 11, position 5225881 variant in HBB clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
benign
TTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGTTCATCAATTCTGCCATAAATGGCAGGATTTTCTTCTTTTTAATTTTTTTATTTTCCTATTTTTAATTTTTTGTTTGTTATTGAATCATCTGTGTTTCTTATATATTTTGGATATTAACCAAAATATTTAAGAAATATTTGGTTTGCAAATATGCCATTTCATGGTTCACCTTTCATTTGTTCATTGTTTTGTTTTTTGTGTGGAAATTTTTTAGTTTGATGTAGCCTCACTTCTTTATTTTTCCTTTTGTTGCCTTTGCTTCTCATATCAAATTCAAAAAACGGCTGCAACGTGAATATTAGAATTTTCTTCTTTTGATTTCTTTAAAAATTTTTATGGTTTTAGGTCTTAGTTTAATTCTTTAACCCATTCAAATTTATTTTTGTTTATGGTGTAAGACAAGGGTCTGATTTCATTTCATTTTGAGGGTTTCACCCTCTCATATAATAAAATTCTTCTATATACCCTTCTATCATCACTTATTACTGATTATATGCCTTGATTTCAGAATCTTGCCAACTAGATTCAGAATTTGACTGGGAGAGAGGACAAGGACCACTTGAGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAG
TTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGTTCATCAATTCTGCCATAAATGGCAGGATTTTCTTCTTTTTAATTTTTTTATTTTCCTATTTTTAATTTTTTGTTTGTTATTGAATCATCTGTGTTTCTTATATATTTTGGATATTAACCAAAATATTTAAGAAATATTTGGTTTGCAAATATGCCATTTCATGGTTCACCTTTCATTTGTTCATTGTTTTGTTTTTTGTGTGGAAATTTTTTAGTTTGATGTAGCCTCACTTCTTTATTTTTCCTTTTGTTGCCTTTGCTTCTCATATCAAATTCAAAAAACGGCTGCAACGTGAATATTAGAATTTTCTTCTTTTGATTTCTTTAAAAATTTTTATGGTTTTAGGTCTTAGTTTAATTCTTTAACCCATTCAAATTTATTTTTGTTTATGGTGTAAGACAAGGGTCTGATTTCATTTCATTTTGAGGGTTTCACCCTCTCATATAATAAAATTCTTCTATATACCCTTCTATCATCACTTATTACTGATTATATGCCTTGATTTCAGAATCTTGCCAACTAGATTCAGAATTTGACTGGGAGAGAGGACAAGGACCACTTGAGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCC
benign
171,289
Located at chromosome 11 position 5226017, the variant affecting gene HBB—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
benign
TTTTACATCCTCCAGGTTCATCAATTCTGCCATAAATGGCAGGATTTTCTTCTTTTTAATTTTTTTATTTTCCTATTTTTAATTTTTTGTTTGTTATTGAATCATCTGTGTTTCTTATATATTTTGGATATTAACCAAAATATTTAAGAAATATTTGGTTTGCAAATATGCCATTTCATGGTTCACCTTTCATTTGTTCATTGTTTTGTTTTTTGTGTGGAAATTTTTTAGTTTGATGTAGCCTCACTTCTTTATTTTTCCTTTTGTTGCCTTTGCTTCTCATATCAAATTCAAAAAACGGCTGCAACGTGAATATTAGAATTTTCTTCTTTTGATTTCTTTAAAAATTTTTATGGTTTTAGGTCTTAGTTTAATTCTTTAACCCATTCAAATTTATTTTTGTTTATGGTGTAAGACAAGGGTCTGATTTCATTTCATTTTGAGGGTTTCACCCTCTCATATAATAAAATTCTTCTATATACCCTTCTATCATCACTTATTACTGATTATATGCCTTGATTTCAGAATCTTGCCAACTAGATTCAGAATTTGACTGGGAGAGAGGACAAGGACCACTTGAGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTC
TTTTACATCCTCCAGGTTCATCAATTCTGCCATAAATGGCAGGATTTTCTTCTTTTTAATTTTTTTATTTTCCTATTTTTAATTTTTTGTTTGTTATTGAATCATCTGTGTTTCTTATATATTTTGGATATTAACCAAAATATTTAAGAAATATTTGGTTTGCAAATATGCCATTTCATGGTTCACCTTTCATTTGTTCATTGTTTTGTTTTTTGTGTGGAAATTTTTTAGTTTGATGTAGCCTCACTTCTTTATTTTTCCTTTTGTTGCCTTTGCTTCTCATATCAAATTCAAAAAACGGCTGCAACGTGAATATTAGAATTTTCTTCTTTTGATTTCTTTAAAAATTTTTATGGTTTTAGGTCTTAGTTTAATTCTTTAACCCATTCAAATTTATTTTTGTTTATGGTGTAAGACAAGGGTCTGATTTCATTTCATTTTGAGGGTTTCACCCTCTCATATAATAAAATTCTTCTATATACCCTTCTATCATCACTTATTACTGATTATATGCCTTGATTTCAGAATCTTGCCAACTAGATTCAGAATTTGACTGGGAGAGAGGACAAGGACCACTTGAGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCN
benign
171,300
Chromosome 11, position 5226493, gene HBB: benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
benign
ATATACCCTTCTATCATCACTTATTACTGATTATATGCCTTGATTTCAGAATCTTGCCAACTAGATTCAGAATTTGACTGGGAGAGAGGACAAGGACCACTTGAGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTT
ATATACCCTTCTATCATCACTTATTACTGATTATATGCCTTGATTTCAGAATCTTGCCAACTAGATTCAGAATTTGACTGGGAGAGAGGACAAGGACCACTTGAGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTNN
benign
171,301
Considering the genetic mutation at chromosome 11, position 5226574, impacting HBB: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['beta_Thalassemia']
GAGAGAGGACAAGGACCACTTGAGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATA
GAGAGAGGACAAGGACCACTTGAGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCCCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAN
pathogenic
171,309
Variant chromosome 11, position 5226596, gene HBB: benign or pathogenic? Disease(s)?
pathogenic; ['Hemoglobinopathy', 'beta_Thalassemia']
AGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTC
AGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTT
pathogenic
171,314
A genetic variant at chromosome 11, position 5226604, affecting gene HBB—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
pathogenic; ['beta_Thalassemia']
ATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTC
ATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGT
pathogenic
171,317
Is the genetic mutation found on chromosome 11 at position 5226640, within the gene HBB, considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Beta-thalassemia_HBB/LCRB', 'beta_Thalassemia']
TATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACT
TATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTN
pathogenic
171,322
Clinical significance of chromosome 11, position 5226656, gene HBB: benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Beta-plus-thalassemia', 'beta_Thalassemia', 'likely other unspecified diseases']
TGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACAC
TGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACN
pathogenic
171,325
Evaluate this variant at chromosome 11, position 5226657, gene HBB: benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Beta-thalassemia_HBB/LCRB', 'beta_Thalassemia']
GAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACA
GAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACANN
pathogenic
171,326
Considering the variant on chromosome 11, location 5226661, involving gene HBB, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
pathogenic; ['Beta_zero_thalassemia', 'beta_Thalassemia']
TTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCA
TTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGACCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAN
pathogenic
171,327
The chromosome 11, position 5226665 genetic variant in gene HBB: benign or pathogenic? If pathogenic, indicate disease(s).
pathogenic; ['beta_Thalassemia']
GGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAA
GGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAN
pathogenic
171,328
Regarding the variant found on chromosome 11 at position 5226667 in gene HBB: is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic
TGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGT
TGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGA
pathogenic
171,329
Considering the genetic mutation at chromosome 11, position 5226674, impacting HBB: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Beta-thalassemia_HBB/LCRB', 'Beta_zero_thalassemia', 'Dominant_beta-thalassemia', 'Erythrocytosis,_familial,_6', 'Hb_SS_disease', 'Heinz_body_anemia', 'Hereditary_persistence_of_fetal_hemoglobin', 'Inborn_genetic_diseases', 'METHEMOGLOBINEMIA,_BETA_TYPE', 'Malaria,_susceptibility_to', 'beta_Thalassemia']
TGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGT
TGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGG
pathogenic
171,330
Evaluate if the mutation on chromosome 11 at position 5226682 in HBB is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['beta_Thalassemia']
CTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTAT
CTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATN
pathogenic
171,331
A mutation at chromosome position 5226687 on chromosome 11 in gene HBB: benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Beta-thalassemia_HBB/LCRB', 'Dominant_beta-thalassemia', 'Erythrocytosis,_familial,_6', 'Hb_SS_disease', 'Heinz_body_anemia', 'Hereditary_persistence_of_fetal_hemoglobin', 'METHEMOGLOBINEMIA,_BETA_TYPE', 'Malaria,_susceptibility_to', 'alpha_Thalassemia', 'beta_Thalassemia']
CTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTA
CTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTANN
pathogenic
171,335
Is chromosome 11, position 5226715, gene HBB variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Hemoglobinopathy', 'beta_Thalassemia']
AAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCC
AAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCN
pathogenic
171,340
Chromosome 11, position 5226729, gene HBB: benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
pathogenic
GGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATA
GGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAN
pathogenic
171,344
A genetic alteration at chromosome 11, position 5226736, in gene HBB—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Hemoglobinopathy', 'beta_Thalassemia']
AGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAA
AGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAN
pathogenic
171,345
Evaluate if the mutation on chromosome 11 at position 5226745 in HBB is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['beta_Thalassemia']
CTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAA
CTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGG
pathogenic
171,346
Is the genetic change at chromosome 11, position 5226748, within gene HBB benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['beta_Thalassemia']
ATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAAT
ATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATTCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAA
pathogenic
171,347
Gene HBB variant at chromosome position 5226753 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Beta-thalassemia_HBB/LCRB', 'Dominant_beta-thalassemia', 'Hemoglobinopathy', 'beta_Thalassemia']
TTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAG
TTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGN
pathogenic
171,349
Clinically, how would you classify the variant at chromosome 11, position 5226756, gene HBB: benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Beta-thalassemia_HBB/LCRB', 'Beta_zero_thalassemia', 'Dominant_beta-thalassemia', 'Erythrocytosis,_familial,_6', 'Hb_SS_disease', 'Heinz_body_anemia', 'Hereditary_persistence_of_fetal_hemoglobin', 'METHEMOGLOBINEMIA,_BETA_TYPE', 'Malaria,_susceptibility_to', 'beta_Thalassemia']
CTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTAT
CTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATN
pathogenic
171,350
Clinical significance of chromosome 11, position 5226762, gene HBB: benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Beta-thalassemia_HBB/LCRB', 'Beta_zero_thalassemia', 'Dominant_beta-thalassemia', 'Erythrocytosis,_familial,_6', 'Fetal_hemoglobin_quantitative_trait_locus_1', 'HBB-related_disorder', 'Hb_SS_disease', 'Heinz_body_anemia', 'Hereditary_persistence_of_fetal_hemoglobin', 'Inborn_genetic_diseases', 'METHEMOGLOBINEMIA,_BETA_TYPE', 'Malaria,_susceptibility_to', 'alpha_Thalassemia', 'beta_Thalassemia']
GCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTT
GCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTNNNN
pathogenic
171,352
The chromosome 11, position 5226765 genetic variant in gene HBB: benign or pathogenic? If pathogenic, indicate disease(s).
pathogenic; ['beta_Thalassemia']
AATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTT
AATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTN
pathogenic
171,355